S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010 DO NOT DISTRIBUTE - 1 -

Textbooks
: Nelson Essentials of Pedia trics, Pediatric Secre ts, Fir st Aid f or Pedia tr ic Cler kship
-- ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ---
-- -Common Proble ms in Ped iatric s
Pre ve ntative : I mmuniza tions, N or mal Gr owth and De ve lopme ntCough: URI, Asthma , Pne umonia , Br onc hiolitis,
Allergic RhinitisFe ver : Common Vir al Illnesse s, UT I, Occult Bac tere mia, Me ningitis, Fe br ile SeizuresS ore Thr oa t:
Gr oup A Be ta -He mol ytic Stre ptoc occa l Phar yngitis, Mononucle osisE ar Pain: O titis Media , Otitis Exter naAbdomina l
Pa in: Ga str oe nter itis, UT I, P ID , Func tional Abdomina l PainDer ma titis: Atopic Der ma titis, Vira l Exa nthe ms, Impetigo,
Monilial and Tinea Infec tions, ScabiesHeart Mur murs: Innoc ent Mur murs, Septal DefectsDe velopmental:
De velopmenta l De la y, Failure to Thr ive He ma tology: Sic kle Cell D isea se, Thala sse mias Nephr ology: UT I,
Ne phr otic /Ne phr itic S yndr omes, Pr ote inur iaChr onic : Allergies, Asth ma , Ce rebra l Palsy, Cystic Fibr osis,
D iabe te s Mellitus, Seizure Disor der s
-- ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ---
-- -Procedures:
NEJM Vide os In Clinica l Me dicine: http://www.nej m.org/ multimedia/vide osinclinica lme dic ine
-- ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ --
-- --

How To Succeed Fir st Aid For The Pe diatr ics C ler kship (Ste ad, Stead , & Kau f man)
Be On Time
: Most wa rds tea ms be gin r ounding around 8a m. Give your se lf a t least 15 minutes per pa tient f or pre-r ounding to learn
about e ve nts that occ urre d over night or lab/ima ging results.
Dress In A Professional Manner
: Re ga rdless of what the atte nding we ars. A short white coat should be wor n ove r your pr ofessional dress clothe s
unless it is disc oura ged.
Act In A Pleasant Manner
: The me dical rotation is often difficult, stre ssful, and tiring. S mooth out your exper ience b y being nice to be ar ound.
S mile a lot and learn e ver yones na me. Dont be afraid to a sk how your residentswee kend wa s. If you do
not understa nd or disa gr ee with a trea tme nt plan or dia gnosis, do not c halle nge . Instea d,sa y I m sorr y, I dont quite
under stand, c ould you please expla in... Show kindness and compassion towa rd your pa tients. Ne ve r partic ipate in
ca llous ta lk about pa tients.
Take Responsibility
: Know ever ything there is to know about your pa tients: their histor y, test re sults, details abouttheir me dica l pr oble m,
and pr ognosis. Kee p your intern or re sident inf or me d of ne w de ve lop me nts tha t the y mi ghtnot be aware of , and ask
the m for an y update s you mi ght not be a ware of. Assist the tea m in de veloping a pla n;spea k to radiology, c onsulta nts,
and fa mil y. Never give ba d ne ws to pa tients or fa mil y me mber s without theassista nce of your super vising re sident
or a tte nding.
Respect Patients Rights
:
1) All pa tients ha ve the right to ha ve the ir per sonal me dica l inf or mation ke pt pr iva te . This mea ns do not disc uss
the pa tients inf or ma tion with fa mil y me mber s without that patie nts consent, and do not disc uss an y patie nt in
ha llwa ys, ele vators, or cafe terias.2) All pa tients ha ve the right to refuse trea tme nt. This mea ns the y can refuse
treatment b y a spec if ic individua l ( you, the me dical student) or of a spec if ic t ype ( no na soga str ic tube ). Patie nts can
e ve n refuse life -sa ving trea tme nt. The onl y exce ptions to this rule are if the pa tient is dee me d to not ha ve the capac it y
to ma ke decisions or understa nd situations, in which ca se a hea lth care pr ox y should be sought, or if the pa tient is
suicidal or homicida l.3) All patie nts should be inf or med of the right to see k adva nced direc tives on admission. Of te n,
this is done b y the admissions staff, in a bookle t. If your pa tient is chr onically ill or has a life -threate ning illness,
address the subjec t of adva nced direc tives with the a ssista nce of your a tte nding.
More Tips
: Voluntee r, be a tea m pla ye r, be hone st, and ke ep pa tient inf or ma tion handy.
Present In An Organized Manner
: T his is a [age] ye ar old [gender] with a histor y of [ maj or/per tine nt histor y suc has asthma , pre matur it y, etc . or
otherwise hea lthy] who presented on [da te] with [ maj or symptoms, suc h as c ough,fe ver, and chills], and wa s f ound
to ha ve [wor king dia gnosis]. [Tests done] showe d [re sults] . Yester da y/ over nightthe patie nt [state impor ta nt changes,
ne w pla n, ne w tests, ne w me dica tions] . This morning the pa tient feels [sta te the patie nts words] , and the physical
exa m is significant for [sta te maj or findings]. Pla n is [state pla n].
On Outpatient
: The a mbula tor y pa rt of the pe diatr ic s r otation c onsists of ma inl y two par ts: focused histor ie s and physicals f or acute
pr oble ms and well-child visits. U sua ll y, you will see the pa tient f irst, to ta ke the histor y and dothe ph ysica l exa m. It
is impor ta nt to str ike a balance be twee n obtaining a thor ough exa m and not upse tting the childso much tha t
the a tte nding wont be able to rechec k an y per tine nt par ts of it. For acute case s, prese nt the pa tientdistinc tl y,
inc luding an appr opr ia te diffe rential dia gnosis and plan. In this sec tion, be sure to include possiblee tiol ogies, such as
specific bacte ria , as we ll as a spec if ic treatment (e.g., a pa rtic ula r antibiotic , dose, and cour se of treatment) . For
pre se nta tion of well-child visits, c ove r all the ba ses, but f ocus on the patie nts c oncerns and your findings. There are
specific issues to discuss de pending on the a ge of the child. Past histor y and de velopment isimpor tant, but so is
anticipa tor y guidance pre vention and expectations f or wha t is to come . The goa l is to be bothefficie nt and thor ough.
-- ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ---
-- -

Top 100 Secrets Pe diatr ic Secrets (4th, Polin & Dit mar)
1) Methods to increa se compliance b y adolescents with me dical regimens inc lude the following: simplif ying
there gimen, ma king the pa tient re sponsible, discussing potential side effec ts, using praise libera ll y, and educating
the pa tient.2) A pe lvic exa mina tion is not require d bef ore prescribing or al contrace ptive s f or teena gers without r isk
fac tor s.Appr opriate screening f or sexually tra nsmitte d disea ses and possible cervical d ysplasia can be sc heduled,
butde la ying ora l c ontrace ption unnece ssaril y increases the risk of pre gna nc y.3) E mergenc y c ontrace ption should be
discussed with all sexuall y active adolesce nts; 90% of tee na ge pre gna nciesare unintended.4) Teena ge rs with atte ntion
def ic it hyperactivit y disorder (ADHD ) and c onduct disorder s are a t high risk f or substance abuse disor der s. Substa nce
abuse is of te n associate d with comorbid ps ychia tr ic disorders.5) Ca lluses ove r the metacarpophalangeal j oints of the
index and/or middle finger s (Russe ll sign) ma y indicate repe titive tra uma fr om self -induced a tte mpts at vomiting in
pa tients with ea ting disorder s.6) Apprec ia ting tha t AD HD is a chr onic c ondition (like asthma or diabe tes) is usef ul for
ma na ge me nt strate gies,f ollow up, and ongoing patie nt/parental educa tion and involve me nt.7) Although colic is
c ommon and re solve s sponta ne ously by 3 months, do not undere stimate the ph ysica l and psyc hologica l impac t of the
c ondition on a famil y.8) Bilingua l childre n de ve lop speec h mile stone s nor mall y; two- langua ge households should not
be pre sumed as acause of speech de la y.9) Most a mbl yopia is unila tera l; vision te sting solel y with both e ye s open
is ina dequate .10) Conge nitally missing or misshape n tee th can be ma r ker s f or he reditar y s yndr ome s.11) S ync ope in a
deaf child should lea d one to suspec t pr olonga tion of the QT wa ve on the electr ocar diogr a m.12) Bounding pulse s in
an infa nt with c ongestive hear t failure should cause one to c onsider a large patie nt duc tusar ter iosus.13) If a br uit is
hear d over the anter ior fonta nel in a ne wborn with c onge stive hear t failure, suspec t a s yste micar ter iove nous
f istula .14) The chief complaint in a child with c ongestive heart failure ma y be nonspec if ic abdomina l pain.15)
D iastolic mur mur s are ne ve r innoce nt and de ser ve f urther cardiac e va lua tion.16) Pa tie nts with at ypica l Ka wasa ki
disease ( doc ume nted b y cor onar y arter y abnor ma lities de spite not f ulf illingc la ssic cr ite ria ) are usua ll y younge r (<1
ye ar old) and most commonl y lac k cer vica l adenopa th y and extre mit ychanges.17) Ne ona tes with midline lumbosacra l
lesions (e.g., sacral pits, h yper tr ic hosis, lipoma s) should ha ve scree ningima ging of the spine perf or me d to searc h for
occ ult spina l dysra phis m.18) He mangioma s in the "bear d distribution" ma y be assoc ia te d with interna l airwa y
he mangiomas.19) Infantile acne nece ssita te s an endocrine wor kup to rule out prec oc ious puber ty.20) If a
child de velops psor ia sis f or the f ir st time or ha s a flare of existing disease, look for stre ptoc oc cal phar yn gitis.21)
L ook for assoc ia ted autoimmune th yr oiditis in children who pre sent with a fa mily histor y of thyr oid disea se
andexte nsive a lopecia area ta or vitiligo.22) Most cardiac arrests in childr en are sec onda r y to respirator y arrest.
T heref ore, ear ly rec ognition of respirator ydistre ss and fa ilure in children is cr ucia l.23) Beca use childre n are muc h
more ela stic tha n adults, be ware of inter nal inj uries af ter tra uma ; the se can oc cur without obvious skeleta l injur ie s.24)
Be cause children ge t c olde r faster than adults as the result of a higher ra tio of body surface area to body mass, besure
tha t hypother mia is not c ompounding he modyna mic instabilit y in a pe diatr ic trauma patie nt in shoc k.25) H ypotension
and excessive f luid restriction should be avoided at a ll c osts in the child in shoc k with se vere hea dinjur y because such
a patie nt is highl y sensitive to sec ondar y brain injur y fr om hyp ote nsion.26) The most common f inding upon the
exa mina tion of a child's genita lia after suspec ted se xua l abuse is a nor malexa mina tion.

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010 DO NOT DISTRIBUTE - 3 -27) Beca use the size of a nor mal hymenal
opening in a pre puber tal child can va r y signif icantl y, the qua lity andsmoothness of the contour s of the hymenal
opening, inc luding tear s and scarring, are mor e sensitive indicators of se xua l abuse .28) Palpation f or an enla rge d
or nodular th yr oid is one of the most ove rlooked par ts of the pe diatric physicalexa mina tion in a ll a ge gr oups.29)
Be cause 20-40% of solitar y thyr oid nodules in adolesce nts are malignant, an expedited e va luation is nee ded if anodule
is disc ove red.30) Unless a blood sugar le ve l is chec ke d, the dia gnosis of ne w-onse t diabe tic ke toac idosis can be
de la ye d beca usea bdominal pain can mimic appendicitis, and h ype r ve ntilation can mi mic pne umonia .31) Be wa re of
s yndr ome of ina ppr opria te antidiur etic hor mone secretion and possible cerebra l ede ma if a nor ma l or low sodium le vel
be gins to fa ll with f luid re ple nish me nt dur ing the trea tme nt of dia betic ketoac idosis.32) Aca nthosis nigr icans is found
in 90% of youth dia gnose d with t ype 2 diabe tes.33) Gr owth hor mone de fic ie nc y pre se nt during the f ir st yea r of life
is assoc ia te d with h ypogl yc e mia ; afte r the a ge of 5 yea rs, it is assoc ia ted with shor t sta ture.34) Fecal soiling
is assoc ia te d with se vere functiona l c onstipa tion.35) More tha n 40% of infa nts re gurgita te effor tlessl y more tha n
once a da y.36) Na soga str ic la va ge is a simple me thod f or diffe rentiating upper gastr ointe stina l bleeding fr om
lower gastr ointe stina l bleeding.37) Conjugate d hyper bilirubine mia in any child is abnor mal and de ser ves f urther
inve stigation.38) P ote ntia l long-ter m c omplica tions of pediatric inf la mma tor y bowe l disease include chr onic gr owth
fa ilure ,abscesse s, f istula s, nephr olithiasis, and toxic me ga c olon.39) Bilious emesis in a ne wbor n represe nts a sign of
potential obstr uction and is a true gastr ointe stinal emergenc y.40) In patie nts with D own s yndr ome and beha viora l
pr oble ms, do not over look hearing loss (both sensor ineural andc onductive ); it oc cur s in up to two thirds of pa tients
with this c ondition, and it can be a possible contributor to thoset ype s of pr oble ms.41) Fluor escence in situ
h ybr idization ( FISH) is indica ted f or the rapid dia gnosis of trisomies 13 and 18 and multiple syndr ome s in childre n
with modera te to se vere menta l reta rda tion and apparentl y nor ma l chr omos ome s( subtelome ric FISH pr obes) .42) Three
or more minor malf or ma tions should ra ise concer n about the pre se nce of a maj or ma lf or ma tion.43) The dia gnosis of
fe tal a lc ohol syndr ome is pr oble ma tic in infants because facia l gr owth and de ve lop me nt canmodif y pre viousl y
dia gnostic features ove r a 4- to 6-ye ar pe riod.44) D iabe tes me llitus is the most common te ratogenic state ; insulin-
de pendent diabe tic mothers ha ve infa nts with aneight-f old increa se in struc tural anoma lie s.45) An infa nt with
nons yndr omic sensor ineural hea ring loss should be tested f or muta tions in the connexin 26 gene.Muta tions in that
gene contr ibute to a t least about 50% of autosomal recessive hear ing loss and about 10-20% of a ll pre lingua l hear ing
loss.46) In childre n <12 ye ar s old, the lowe r limit of nor ma l f or the me an c or puscular volume (MCV) can be
esti ma te das 70 + ( the child's age in yea rs)/mm3. For a patie nt tha t is mor e tha n 12 yea rs old, the lowe r li mit f or a
nor ma l MCV is 82/mm3.47) In the setting of mic r oc ytosis, an ele vate d red blood ce ll distr ibution width inde x sugge sts a
dia gnosis of ir ondeficie nc y ra the r tha n thala sse mia .48) Af ter ir on supple me ntation f or ir on-def icienc y ane mia , the
re tic uloc yte count should double in 1-2 we e ks, andhe moglobin should increase by 1 gm/dL in 2-4 we e ks. The most
c ommon reason f or persistence of ir on deficie nc yane mia is poor compliance with supple menta tion.49) Childre n with
e le va ted lead le vels are at increa sed r isk f or ir on deficie nc y ane mia because lea d compe titive lyinhibits the absorption
of ir on.50) Chr onic transf usion therap y to reduce sic kle he mogl obin le ve ls to 30-40% of the total lower s the
like lihood of str oke.51) Beca use 30% of pa tients with he mophilia ha ve no fa mily histor y of the disorder, clinica l
suspicion is impor ta ntin the presence of exce ssive and fre que nt ecch ymose s.52) Ma r ke d neutr openia (<500/mm3
absolute ne utr ophil count) in a pre viousl y hea lth y child often he ralds the onse tof over whe lming sepsis.53) The
de ter mina tion of immunoglobulin G subclass conce ntrations is mea ningle ss in childre n who are less than 4 ye ars
old.54) Neutr ophil de fic ie nc y should be c onside red in a ne wbor n with a dela yed separa tion of the umbilica l c or d
( >3wee ks) .

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010 DO NOT DISTRIBUTE - 1 -

Textbooks
: Nelson Essentials of Pedia trics, Pediatric Secre ts, Fir st Aid f or Pedia tr ic Cler kship
-- ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ---
-- -Common Proble ms in Ped iatric s
Pre ve ntative : I mmuniza tions, N or mal Gr owth and De ve lopme ntCough: URI, Asthma , Pne umonia , Br onc hiolitis,
Allergic RhinitisFe ver : Common Vir al Illnesse s, UT I, Occult Bac tere mia, Me ningitis, Fe br ile SeizuresS ore Thr oa t:
Gr oup A Be ta -He mol ytic Stre ptoc occa l Phar yngitis, Mononucle osisE ar Pain: O titis Media , Otitis Exter naAbdomina l
Pa in: Ga str oe nter itis, UT I, P ID , Func tional Abdomina l PainDer ma titis: Atopic Der ma titis, Vira l Exa nthe ms, Impetigo,
Monilial and Tinea Infec tions, ScabiesHeart Mur murs: Innoc ent Mur murs, Septal DefectsDe velopmental:
De velopmenta l De la y, Failure to Thr ive He ma tology: Sic kle Cell D isea se, Thala sse mias Nephr ology: UT I,
Ne phr otic /Ne phr itic S yndr omes, Pr ote inur iaChr onic : Allergies, Asth ma , Ce rebra l Palsy, Cystic Fibr osis,
D iabe te s Mellitus, Seizure Disor der s
-- ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ---
-- -Procedures:
NEJM Vide os In Clinica l Me dicine: http://www.nej m.org/ multimedia/vide osinclinica lme dic ine
-- ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ --
-- --

How To Succeed Fir st Aid For The Pe diatr ics C ler kship (Ste ad, Stead , & Kau f man)
Be On Time
: Most wa rds tea ms be gin r ounding around 8a m. Give your se lf a t least 15 minutes per pa tient f or pre-r ounding to learn
about e ve nts that occ urre d over night or lab/ima ging results.
Dress In A Professional Manner
: Re ga rdless of what the atte nding we ars. A short white coat should be wor n ove r your pr ofessional dress clothe s
unless it is disc oura ged.
Act In A Pleasant Manner
: The me dical rotation is often difficult, stre ssful, and tiring. S mooth out your exper ience b y being nice to be ar ound.
S mile a lot and learn e ver yones na me. Dont be afraid to a sk how your residentswee kend wa s. If you do
not understa nd or disa gr ee with a trea tme nt plan or dia gnosis, do not c halle nge . Instea d,sa y I m sorr y, I dont quite
under stand, c ould you please expla in... Show kindness and compassion towa rd your pa tients. Ne ve r partic ipate in
ca llous ta lk about pa tients.
Take Responsibility
: Know ever ything there is to know about your pa tients: their histor y, test re sults, details abouttheir me dica l pr oble m,
and pr ognosis. Kee p your intern or re sident inf or me d of ne w de ve lop me nts tha t the y mi ghtnot be aware of , and ask
the m for an y update s you mi ght not be a ware of. Assist the tea m in de veloping a pla n;spea k to radiology, c onsulta nts,
and fa mil y. Never give ba d ne ws to pa tients or fa mil y me mber s without theassista nce of your super vising re sident
or a tte nding.
Respect Patients Rights
:
1) All pa tients ha ve the right to ha ve the ir per sonal me dica l inf or mation ke pt pr iva te . This mea ns do not disc uss
the pa tients inf or ma tion with fa mil y me mber s without that patie nts consent, and do not disc uss an y patie nt
inhallwa ys, ele vators, or cafeter ias.2) All pa tients ha ve the r ight to ref use treatment. This me ans the y can refuse
treatment b y a spec if ic individua l ( you,the medica l stude nt) or of a specific type (no nasogastric tube) . Patients can
e ve n refuse life -sa ving trea tme nt. The only exceptions to this rule are if the patie nt is dee med to not ha ve the capacity
to ma ke decisions or understa ndsitua tions, in whic h case a health care pr ox y should be sought, or if the patie nt is
suicidal or homicida l.3) All patie nts should be inf or med of the right to see k adva nced direc tives on admission. Of te n,
this is done b y theadmissions sta ff, in a booklet. If your patie nt is chr onica ll y ill or ha s a lif e-threa tening illne ss,
address the subjec t of adva nced direc tives with the a ssista nce of your a tte nding.
More Tips
: Voluntee r, be a tea m pla ye r, be hone st, and ke ep pa tient inf or ma tion handy.
Present In An Organized Manner
: T his is a [age] ye ar old [gender] with a histor y of [ maj or/per tine nt histor y suc has asthma , pre matur it y, etc . or
otherwise hea lthy] who presented on [da te] with [ maj or symptoms, suc h as c ough,fe ver, and chills], and wa s f ound
to ha ve [wor king dia gnosis]. [Tests done] showe d [re sults] . Yester da y/ over nightthe patie nt [state impor ta nt changes,
ne w pla n, ne w tests, ne w me dica tions] . This morning the pa tient feels [sta te the patie nts words] , and the physical
exa m is significant for [sta te maj or findings]. Pla n is [state pla n].
On Outpatient
: The a mbula tor y pa rt of the pe diatr ic s r otation c onsists of ma inl y two par ts: focused histor ie s and physicals f or acute
pr oble ms and well-child visits. U sua ll y, you will see the pa tient f irst, to ta ke the histor y and dothe ph ysica l exa m. It
is impor ta nt to str ike a balance be twee n obtaining a thor ough exa m and not upse tting the childso much tha t
the a tte nding wont be able to rechec k an y per tine nt par ts of it. For acute case s, prese nt the pa tientdistinc tl y,
inc luding an appr opr ia te diffe rential dia gnosis and plan. In this sec tion, be sure to include possiblee tiol ogies, such as
specific bacte ria , as we ll as a spec if ic treatment (e.g., a pa rtic ula r antibiotic , dose, and cour se of

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010 DO NOT DISTRIBUTE - 2 -treatment) . For pre se nta tion of well-child
visits, c ove r all the base s, but f oc us on the pa tients concer ns and your f indings. There are spec ific issues to discuss
de pending on the a ge of the child. Past histor y and de velopment isimpor tant, but so is anticipa tor y guidance
pre vention and expectations f or wha t is to come . The goa l is to be bothefficie nt and thor ough.
-- ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ---
-- -

Top 100 Secrets Pe diatr ic Secrets (4th, Polin & Dit mar)
1) Methods to increa se compliance b y adolescents with me dical regimens inc lude the following: simplif ying
there gimen, ma king the pa tient re sponsible, discussing potential side effec ts, using praise libera ll y, and educating
the pa tient.2) A pe lvic exa mina tion is not require d bef ore prescribing or al contrace ptive s f or teena gers without r isk
fac tor s.Appr opriate screening f or sexually tra nsmitte d disea ses and possible cervical d ysplasia can be sc heduled,
butde la ying ora l c ontrace ption unnece ssaril y increases the risk of pre gna nc y.3) E mergenc y c ontrace ption should be
discussed with all sexuall y active adolesce nts; 90% of tee na ge pre gna nciesare unintended.4) Teena ge rs with atte ntion
def ic it hyperactivit y disorder (ADHD ) and c onduct disorder s are a t high risk f or substance abuse disor der s. Substa nce
abuse is of te n associate d with comorbid ps ychia tr ic disorders.5) Ca lluses ove r the metacarpophalangeal j oints of the
index and/or middle finger s (Russe ll sign) ma y indicate repe titive tra uma fr om self -induced a tte mpts at vomiting in
pa tients with ea ting disorder s.6) Apprec ia ting tha t AD HD is a chr onic c ondition (like asthma or diabe tes) is usef ul for
ma na ge me nt strate gies,f ollow up, and ongoing patie nt/parental educa tion and involve me nt.7) Although colic is
c ommon and re solve s sponta ne ously by 3 months, do not undere stimate the ph ysica l and psyc hologica l impac t of the
c ondition on a famil y.8) Bilingua l childre n de ve lop speec h mile stone s nor mall y; two- langua ge households should not
be pre sumed as acause of speech de la y.9) Most a mbl yopia is unila tera l; vision te sting solel y with both e ye s open
is ina dequate .10) Conge nitally missing or misshape n tee th can be ma r ker s f or he reditar y s yndr ome s.11) S ync ope in a
deaf child should lea d one to suspec t pr olonga tion of the QT wa ve on the electr ocar diogr a m.12) Bounding pulse s in
an infa nt with c ongestive hear t failure should cause one to c onsider a large patie nt duc tusar ter iosus.13) If a br uit is
hear d over the anter ior fonta nel in a ne wborn with c onge stive hear t failure, suspec t a s yste micar ter iove nous
f istula .14) The chief complaint in a child with c ongestive heart failure ma y be nonspec if ic abdomina l pain.15)
D iastolic mur mur s are ne ve r innoce nt and de ser ve f urther cardiac e va lua tion.16) Pa tie nts with at ypica l Ka wasa ki
disease ( doc ume nted b y cor onar y arter y abnor ma lities de spite not f ulf illingc la ssic cr ite ria ) are usua ll y younge r (<1
ye ar old) and most commonl y lac k cer vica l adenopa th y and extre mit ychanges.17) Ne ona tes with midline lumbosacra l
lesions (e.g., sacral pits, h yper tr ic hosis, lipoma s) should ha ve scree ningima ging of the spine perf or me d to searc h for
occ ult spina l dysra phis m.18) He mangioma s in the "bear d distribution" ma y be assoc ia te d with interna l airwa y
he mangiomas.19) Infantile acne nece ssita te s an endocrine wor kup to rule out prec oc ious puber ty.20) If a
child de velops psor ia sis f or the f ir st time or ha s a flare of existing disease, look for stre ptoc oc cal phar yn gitis.21)
L ook for assoc ia ted autoimmune th yr oiditis in children who pre sent with a fa mily histor y of thyr oid disea se
andexte nsive a lopecia area ta or vitiligo.22) Most cardiac arrests in childr en are sec onda r y to respirator y arrest.
T heref ore, ear ly rec ognition of respirator ydistre ss and fa ilure in children is cr ucia l.23) Beca use childre n are muc h
more ela stic tha n adults, be ware of inter nal inj uries af ter tra uma ; the se can oc cur without obvious skeleta l injur ie s.24)
Be cause children ge t c olde r faster than adults as the result of a higher ra tio of body surface area to body mass, besure
tha t hypother mia is not c ompounding he modyna mic instabilit y in a pe diatr ic trauma patie nt in shoc k.25) H ypotension
and excessive f luid restriction should be avoided at a ll c osts in the child in shoc k with se vere hea dinjur y because such
a patie nt is highl y sensitive to sec ondar y brain injur y fr om hyp ote nsion.26) The most common f inding upon the
exa mina tion of a child's genita lia after suspec ted se xua l abuse is a nor malexa mina tion.

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010 DO NOT DISTRIBUTE - 3 -27) Beca use the size of a nor mal hymenal
opening in a pre puber tal child can va r y signif icantl y, the qua lity andsmoothness of the contour s of the hymenal
opening, inc luding tear s and scarring, are mor e sensitive indicators of se xua l abuse .28) Palpation f or an enla rge d
or nodular th yr oid is one of the most ove rlooked par ts of the pe diatric physicalexa mina tion in a ll a ge gr oups.29)
Be cause 20-40% of solitar y thyr oid nodules in adolesce nts are malignant, an expedited e va luation is nee ded if anodule
is disc ove red.30) Unless a blood sugar le ve l is chec ke d, the dia gnosis of ne w-onse t diabe tic ke toac idosis can be
de la ye d beca usea bdominal pain can mimic appendicitis, and h ype r ve ntilation can mi mic pne umonia .31) Be wa re of
s yndr ome of ina ppr opria te antidiur etic hor mone secretion and possible cerebra l ede ma if a nor ma l or low sodium le vel
be gins to fa ll with f luid re ple nish me nt dur ing the trea tme nt of dia betic ketoac idosis.32) Aca nthosis nigr icans is found
in 90% of youth dia gnose d with t ype 2 diabe tes.33) Gr owth hor mone de fic ie nc y pre se nt during the f ir st yea r of life
is assoc ia te d with h ypogl yc e mia ; afte r the a ge of 5 yea rs, it is assoc ia ted with shor t sta ture.34) Fecal soiling
is assoc ia te d with se vere functiona l c onstipa tion.35) More tha n 40% of infa nts re gurgita te effor tlessl y more tha n
once a da y.36) Na soga str ic la va ge is a simple me thod f or diffe rentiating upper gastr ointe stina l bleeding fr om
lower gastr ointe stina l bleeding.37) Conjugate d hyper bilirubine mia in any child is abnor mal and de ser ves f urther
inve stigation.38) P ote ntia l long-ter m c omplica tions of pediatric inf la mma tor y bowe l disease include chr onic gr owth
fa ilure ,abscesse s, f istula s, nephr olithiasis, and toxic me ga c olon.39) Bilious emesis in a ne wbor n represe nts a sign of
potential obstr uction and is a true gastr ointe stinal emergenc y.40) In patie nts with D own s yndr ome and beha viora l
pr oble ms, do not over look hearing loss (both sensor ineural andc onductive ); it oc cur s in up to two thirds of pa tients
with this c ondition, and it can be a possible contributor to thoset ype s of pr oble ms.41) Fluor escence in situ
h ybr idization ( FISH) is indica ted f or the rapid dia gnosis of trisomies 13 and 18 and multiple syndr ome s in childre n
with modera te to se vere menta l reta rda tion and apparentl y nor ma l chr omos ome s( subtelome ric FISH pr obes) .42) Three
or more minor malf or ma tions should ra ise concer n about the pre se nce of a maj or ma lf or ma tion.43) The dia gnosis of
fe tal a lc ohol syndr ome is pr oble ma tic in infants because facia l gr owth and de ve lop me nt canmodif y pre viousl y
dia gnostic features ove r a 4- to 6-ye ar pe riod.44) D iabe tes me llitus is the most common te ratogenic state ; insulin-
de pendent diabe tic mothers ha ve infa nts with aneight-f old increa se in struc tural anoma lie s.45) An infa nt with
nons yndr omic sensor ineural hea ring loss should be tested f or muta tions in the connexin 26 gene.Muta tions in that
gene contr ibute to a t least about 50% of autosomal recessive hear ing loss and about 10-20% of a ll pre lingua l hear ing
loss.46) In childre n <12 ye ar s old, the lowe r limit of nor ma l f or the me an c or puscular volume (MCV) can be
esti ma te das 70 + ( the child's age in yea rs)/mm3. For a patie nt tha t is mor e tha n 12 yea rs old, the lowe r li mit f or a
nor ma l MCV is 82/mm3.47) In the setting of mic r oc ytosis, an ele vate d red blood ce ll distr ibution width inde x sugge sts a
dia gnosis of ir ondeficie nc y ra the r tha n thala sse mia .48) Af ter ir on supple me ntation f or ir on-def icienc y ane mia , the
re tic uloc yte count should double in 1-2 we e ks, andhe moglobin should increase by 1 gm/dL in 2-4 we e ks. The most
c ommon reason f or persistence of ir on deficie nc yane mia is poor compliance with supple menta tion.49) Childre n with
e le va ted lead le vels are at increa sed r isk f or ir on deficie nc y ane mia because lea d compe titive lyinhibits the absorption
of ir on.50) Chr onic transf usion therap y to reduce sic kle he mogl obin le ve ls to 30-40% of the total lower s the
like lihood of str oke.51) Beca use 30% of pa tients with he mophilia ha ve no fa mily histor y of the disorder, clinica l
suspicion is impor ta ntin the presence of exce ssive and fre que nt ecch ymose s.52) Ma r ke d neutr openia (<500/mm3
absolute ne utr ophil count) in a pre viousl y hea lth y child often he ralds the onse tof over whe lming sepsis.53) The
de ter mina tion of immunoglobulin G subclass conce ntrations is mea ningle ss in childre n who are less than 4 ye ars
old.54) Neutr ophil de fic ie nc y should be c onside red in a ne wbor n with a dela yed separa tion of the umbilica l c or d
( >3wee ks) .

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010 DO NOT DISTRIBUTE - 4 -55) Clinica l features of autoimmunit y do not
exc lude the dia gnosis of a primar y immunodef icienc y.56) A ma le child with a live r abscess should be considere d to
ha ve chr onic gr anuloma tous disease until it is pr ovenothe rwise .57) The most c ommon conge nital infec tion is
c yt ome ga lovir us, whic h in some la rge sc reening studies occ urs in upto 1.3% of ne wbor ns, a lthough most of the se
infa nts re main asymptoma tic .58) Up to 25% of infants <28 da ys old with bac terial sepsis and positive blood culture s
will ha ve culture -conf ir medmeningitis.59) Er ythe ma tous pa pules with a pale center (" doughnut lesions" ) located on
the har d and sof t pa lates are pathognomonic for streptoc occa l phar yngitis.60) The red ma n s yndr ome, which is a
c omplica tion of va nc omyc in administr ation, can usually be avoided b yslowing the ra te of dr ug inf usion or b y
pre medica ting with diphe nh ydr a mine.61) A pe techia l-pur pur ic ra sh in a gl ove -and-stoc king distribution should raise
the possibility of infection with par vovir us B19.62) Perinatal a sphyxia acc ounts f or le ss than 15% of cases of cerebra l
pa ls y.63) Beca use pr ima r y and sec ondar y apnea are indistinguisha ble in ne wbor ns, the initia l clinica l response should
be identical in the delive r y room.64) H ype rbilir ubine mia is generally not an indica tion for the cessation of breast-
feeding but ra the r for increasing itsfre que nc y.65) Sepsis is in the differe ntia l dia gnosis of virtua ll y ever y ne ona ta l
sign and symptom.66) Br east feeding lower s the risks of necr otiz ing enter oc olitis and nosoc omia l sepsis.67) Ten
perce nt of febr ile infants with documente d urinar y trac t infections ha ve nor mal urina lyses; this e mpha size sthe
impor ta nce of obta ining a urine culture if clinica l risk fac tor s are present.68) Vigor ous correction of constipation ha s
bee n shown to diminish both enure sis and the frequenc y of urinar y trac tinf ections.69) Chr omosomal and
endocr inologic evaluation should be done if te ste s are bila tera ll y unde scended andnonpalpa ble or one or two testicle s
are undescended with hypospadias prese nt.70) In pa tients with acute re nal fa ilure , the me asure me nt of ur inar y indice s
(urine sodium c oncentration, fractiona le xcretion of sodiu m, ur ine spec if ic gr a vit y, and os molality) should be done
bef ore initia ting any thera py to helpdistinguish be twee n prerena l, renal, and postr ena l etiologies.71) The two most
pr oductive facets of pa tient e va lua tion to explain rena l disea se as a possible cause of s ympt omsare as f ollows: (1) the
me asure me nt of blood pre ssure and (2) the exa mina tion of the f irst morning void af ter the bladder is emptied of urine
stor ed ove rnight ( whe n a specimen is most like ly to be conce ntrate d).72) The most common cause of per sistent
se iz ures is an ina dequate serum antiepileptic le ve l.73) Antiepileptic dr ugs in table t and capsule f or m pr oduce
less va riation in blood c oncentra tions tha n liquid prepa rations, par ticular ly suspensions, do.74) Re sist polyphar ma c y:
three or more me dications ha ve not been shown to impr ove seiz ure c ontr ol as compare dwith one or two drugs, and side
effects and complia nce bec ome much more pr oble matic .75) The dia gnosis of cere bral palsy is rare ly ma de at <1 ye ar
old because neur ologic findings in infa nc y are subjectto significa nt change.76) Migr aine hea dache s are usually
bilateral in childre n but unila tera l (75%) in adults.77) Seiz ures with fe ve r in pa tients older than 6 ye ar s of a ge should
not be considere d febr ile seizure s.78) Childr en with fe ver and neutr ope nia must continue to rece ive br oad-spectrum
antibiotic s until de finitive signs of ma rr ow recover y are doc ume nted, typically with the prese nce of a pe riphera l
monoc yt osis and an absolutene utr ophil count >200/mm3 and r ising.79) E mpiric antif ungal a ge nts are administere d to
childre n with neutr ope nia who re main febr ile or de ve lop ne wfe ver within 3 to 7 da ys of star ting br oa d-spec tr um
antibiotic s because the risk of inva sive fungal infec tion inc rease swith the duration and depth of neutr ope nia .80) Af ter
a ge and white blood cell count, earl y response to thera py is the most important pr ognostic fea ture for children with
acute l ymphoblastic le uke mia.81) Leuke mia s and lymphoma s that ha ve a high pr olifera tion and cell turnover rate
(e.g., Bur kitt's l ymphoma, T-ce lllymphobla stic leuke mia) place pa tients at the highest risk of complications fr om
tumor l ysis s yndr ome .82) E ight y perce nt or mor e of patie nts who pre sent with acute lymphoblastic le uke mia ha ve a
nor mochr omic,nor moc ytic ane mia with re tic uloc ytopenia.83) Be cause it changes mor e quic kly as infla mma tion
cha nge s, C-reac tive pr otein is better tha n sedime nta tion ratef or monitoring the response to therap y in patie nts with
oste omye litis.

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010 DO NOT DISTRIBUTE - 5 -84) Pse udopara lysis (with decrease d ar m or
le g move ment) with no syste mic illness ma y be a pre se nting sign in aninfa nt with oste omye litis.85) Bac k pain is
a typica l f or sc oliosis and ma y point to another dia gnosis.86) Consider ma gne tic resona nce ima ging f or pa tients with
sc oliosis and the less common left-sided thorac ic cur ves because 5-7% of these pa tients can ha ve intraspina l
abnor malitie s (e.g., hydr omelia).87) A plain x-ra y is unrelia ble in the dia gnosis of de ve lop me ntal dyspla sia of the
hip in infa nts less than 6 months of age because ossif ication of the fe mora l hea d is inc omple te.88) O lde r children with
unexplained unila tera l def or mities (e .g., pe s cavus) of an extre mit y should ha ve screeningma gnetic re sonance ima ging
to e va lua te f or intra spina l disease .89) Asthma rarel y causes c lubbing in children. Consider othe r diseases, partic ularl y
c ystic fibr osis.90) Most childre n with rec urrent pneumonia or persistent right middle lobe ate lec tasis ha ve asthma . But
a ll tha twheezes is not a sthma .91) H ome pea k flow monitor ing is most he lpful in those asthma tic pa tients with ve r y
labile disease or poor symptomrec ognition.92) A nor ma l respira tor y ra te str ongl y argues a ga inst a bacte ria l
pneumonia.93) U pper lobe pne umonia s with radia tion of pa in to the nec k can cause meningis mus and mi mic
appendicitis; lower lobe pne umonia s can present with abdominal pa in.94) Na sal pol yps or rectal pr ola pse in childre n
sugge sts c ystic f ibr osis.95) The three most common causes of ana ph yla xis in pe diatric hospitals and e mergenc y
de partments are la te x, f ood,and drugs. Suspec ted a lle rgie s to she llfish, peanuts, and nuts wa rrant a prescription for an
epinephrine pen beca use of the increased r isk of future ana ph yla xis.96) U p to 10% of nor ma l, health y childre n ma y
ha ve low-le ve l (1:10) positive - antinuc lear antibody (AN A) te stingthat will re ma in positive. Without c linical or
laborator y features of disea se, it is of no signif ica nce.97) The da il y spiking fe ve rs of s yste mic juve nile rhe uma toid
ar thr itis can prece de the de ve lop me nt of ar thr itis b ywee ks to months.98) Antistreptolysin O antibodie s are positive in
onl y 80% of patie nts with acute rheumatic fever. Test f or anti-DNase B antibodies to increase the like lihood to mor e
tha n 95% when dia gnosing a rece nt gr oup A be ta-he mol ytic infection.99) Beca use up to 10% of patie nts can ha ve
as ympt oma tic Bor relia burgdorfe ri infec tion and beca use bothi mmunogl obulin M and immunoglobulin G antibodies to
B. burgdor fer i can per sist f or 10-20 ye ar s, the dia gnosis of Lyme disease in older children and adole scents can
be tric ky in pa tients with a typical c linical pre se nta tions.100) Abdomina l pa in ( mimic king an acute abdome n) and
ar thr itis can fre que ntly precede the rash in Henoc h-Schnle in pur pura disease and thus conf use the dia gnosis.
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Kap lan Vide os (2001) Ne onat ology w ith Dr. Edu ardo Pino,
MD- ----- ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------
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Newborn Skin
* Ne wborn infant at bir th is noted to ha ve acr oc yanosis, a hear t rate of 140, gr ima ces to stimula tion, and is ac tive with
a lust y cr y. Wha t is he r AP GAR sc ore? * AP GAR sc or e 0: no heart rate , no re spirations, no muscle tone, no refle x
irrita bilit y (e .g. bulb suc tion), blue bod y.* AP GAR sc ore 1: H R < 100, wea k cr y, some extre mit y f lexion, some refle x
motion, pink bod y blue extre mities.* AP GAR sc or e 2: H R > 100, vigor ous cr y, ar ms/le gs fle xed, refle x
cr y/withdra wa l, pink a ll ove r.* Virginia Apgar, an anesthesiologist, de ve lope d the APGAR sc ore. U seful tool f or
immedia te assessme nt of thec hild. It is not use d for la ter in life , onl y at birth. U sef ul f or dete r mining pr ogr ession of
re suscita tion.* AP GAR is f or appeara nce, pulse , gri ma ce, activit y, and re spira tions.* Sc or e 0 to 3 a t one minute
requires resusc itation. Do not wait f or one minute though. 4 can be poor a lso.* Poor sc ore at 5 minute s doe s not
pre dict subse que nt cerebral pals y. Poor sc ore a t 20 minute s predic ts higher morbidit y and mor ta lit y.* Sc ore 8 to 10 is
good. Sc ore s 5 to 7 are fa ir. Ne wborn is any child under the a ge of 28 da ys.* Ne wborn infants has a blue -gr a y
pigmented le sion on the sacra l area. It is clearl y de marca ted and doe s not fadeinto the surr ounding skin. Wha t is the
most like l y dia gnosis? Answer is Mongolian spot. The y are mor e commonlysee n in dar k-skinne d races. Up to 5% of
Cauca sian ne wborns will ha ve it.* D iffe rential dia gnosis inc lude s child abuse , so document Mongolian spots to
pre vent subse que nt issue s. Bruiseswill fade into surr ounding skin; in tha t case c onsider child abuse . Mongolia n spots
can occ ur on an y par t of the bod y, typically see n on the buttoc ks or sacral area. The y fa de in months to a yea r.*
Mongolian spots caused b y heighte ned receptor response to me la noc yte stimula ting hor mone .

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010 DO NOT DISTRIBUTE - 6 -* Er ythe ma toxicum is ver y common in
ne wbor ns and should be differentiated fr om sta ph yloc oc cal sca lded skins yndr ome (SSSS). Er ythe ma toxicum doe s not
appear in the f irst da y of life , usually shows in 2-3 da ys. It ischarac ter ized b y er ythe matous ma cule s that can bec ome
blister s or pustule s. It is migr ator y, such that the ne xt da ythe re ma y be c learing in some spots and ne w er ythe ma in
other spots.* Pustules of er ythe ma toxic um ne ona tor um (red ra sh of the ne wbor n) , if sc rape d, will c onta in ma ny
e osinophils.* Sta ph yloc occa l sca lded skin ma y be pre sent in the f irst da y of life , ma y prese nt with pustules, skin will
star t to peel off. If you scra p it, it will f or m a blister like a bur n (Nikolsky sign) . Pustule s will be full of neutr ophils.*
SSS babie s will be ill, toxic in appeara nce, can ha ve se psis.* Treat er ythe ma toxic um with rea ssura nce of the
pare nts.* Sebace ous gland hyper pla sia looks like lots of little whitehea ds, in areas tha t are more oil y like nose .
Treatment isto lea ve the m alone.* Milia c omes in fine -white ( miliaria cr ysta llina) and red ( milia ria rubra) . Benign.*
E bste in pear ls are commonl y seen in the mouth ( muc ous me mbra nes) along the midline, just a collec tion of stratif ie d
epithe lium and tends to go awa y. D o not conf use with torus pa la tinus, an actual de f or mit y of the hard pa la te where it
cur ves down. That is per mane nt and can be c ove red b y muc ous me mbrane , cause no issue s.* Cutis mar mor ata looks
like cobblestone blood-ve sse ls. Ca n oc cur when the ba by is c old. It is sec ondar y tova somot or instabilit y. As the y ge t
older, it ge ts better. Cutis ma r mora ta te langiecta sia conge nita doe s not go awa y asthe child ge ts older. Cutis
ma r mora ta some ti me s see n in Down syndr ome .* Ne onata l acne (acne ne ona tor um) is a he ightene d receptor re sponse to
c irculating e str oge ns. U sua ll y shows ar ounda we e k to two we e ks. Goe s a wa y, no nee d to treat with acne me dica tions.*
Ne wborn has a f lat salmon-colore d lesion on the gla bella , which bec ome s dar ker red when he cr ies. Wha t is the best
c ourse of mana ge ment? This is a salmon pa tc h, also known a s ne vus f la mmeus. Best cour se of mana ge ment
isrea ssura nce of pare nts. This goe s a wa y a s the child ge ts older. Ne vus simplex is a lso known a s stor k bite . * Salmon
pa tc h seen ove r the e ye lids, br idge of the nose, and bac k of the nec k. Also known as a stor k bite ( on thenec k) or
angel kisses ( on the fore head/nose).* Nevus f la mmeus divided into sa lmon patch ( goe s a wa y) and port-wine sta in
(does not go a wa y, he mangioma ,a ssociated with Sturge-Weber s yndr ome. 50% of babies are born with salmon pa tch.
Facial lesions tend to go a wa y,nec k le sions ma y sta y but are covere d with ha ir.* Ca pillar y he ma ngioma, also known as
stra wberr y he mangioma usuall y star ts as fla t mac ula r lesion. Ma y ge t la rge r dur ing f irst fe w months of a ge , raise d
lesion. After fir st yea r of life , the y tend to re gr ess slowl y. In genera l, there isno nee d to go cut the m out a s this results
in bleeding since the y are a collec tion of blood ve ssels. No need to do laser trea tme nt either. Onl y do trea tme nt if the
lesion is over a vital struc ture.* Ba by pre sents with capillar y he mangioma on the skin and stridor. Think about
subglotic he ma ngioma.* As capillar y he mangiomas ge t bette r, the y start to tur n bluish and ge t boggy like an abscess.*
Ne vus sebace ous (ne vus of Ja dassohn) is pre sent at bir th. It is sa lmon fle sh y c olor ed and there will be no hair gr owth
c oming thr ough the lesion. The y are only seen on the scalp. Treatme nt is to follow until adole scent a ge andthen
re move . There is some minor risk of ma ligna nc y, so re move after child is no longe r gr owing.* Caf -au-la it are light-
br own in c olor (c offee with milk) and also known as gir affe spots. The y ma y or ma y not be assoc ia te d with
under lying diseases (ne ur ofibr oma tosis, Mc Cune Albright s yndr ome , Von H ipple Lindau).* Harle quin ba by will ha ve
redder skin close r to the gr ound/gr a vit y. This is due to vasomot or insta bilit y.
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Birth Traum a
* Cephalhe ma toma is a c ollection of f luid unde rnea th the bone . Must be diffe rentiate d fr om caput he matoma .
Ace pha lhe matoma is a subper iosteal blee d, since it is benea th the bone it is limite d by the bone , thus it will not
cr ossthe suture lines. A caput is a sca lp swe lling so it does cr oss suture lines.* Cephalhe ma toma s te nd to get wor se
ove r a fe w da ys and can ta ke we e ks to months to re solve. As the resolve , youca n feel the volca no r im or cra ter, whic h
is the edge of the cepha lhe matoma. Even if the y are bila tera l, the y will notcr oss the suture line so you should be able
to feel a gr oove in be twee n the he ma toma s.* Ca put he matoma s sta rts to ge t better as soon as the bab y is delive red.*
D ifferential dia gnosis of a cepha lhe matoma includes a depre ssed skull fracture .* Subcutane ous fat nec r osis is a type
of bir th inj ur y. Assoc iate d with birth tra uma or forceps use. Will be f ir mr ubber y nodule s, can be seen an ywhe re like
chee ks, buttoc ks, bac k, extre mities.* Brac hia l pa lsie s oc cur with stre tc hing of the brac hial ple xus, suc h as f orce ps or
ar m pulling.* Er b-Duche nne pa ls y involve s C5-C6 and ar m will be interna ll y rota te d, wrist f lexe d, waite r s tip or
sec retsmoke r. Ipsila tera l he mi-diaphra gma tic paral ysis me ans C4 is also affec te d.

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010 DO NOT DISTRIBUTE - 5 -84) Pse udopara lysis (with decrease d ar m or
le g move ment) with no syste mic illness ma y be a pre se nting sign in aninfa nt with oste omye litis.85) Bac k pain is
a typica l f or sc oliosis and ma y point to another dia gnosis.86) Consider ma gne tic resona nce ima ging f or pa tients with
sc oliosis and the less common left-sided thorac ic cur ves because 5-7% of these pa tients can ha ve intraspina l
abnor malitie s (e.g., hydr omelia).87) A plain x-ra y is unrelia ble in the dia gnosis of de ve lop me ntal dyspla sia of the
hip in infa nts less than 6 months of age because ossif ication of the fe mora l hea d is inc omple te.88) O lde r children with
unexplained unila tera l def or mities (e .g., pe s cavus) of an extre mit y should ha ve screeningma gnetic re sonance ima ging
to e va lua te f or intra spina l disease .89) Asthma rarel y causes c lubbing in children. Consider othe r diseases, partic ularl y
c ystic fibr osis.90) Most childre n with rec urrent pneumonia or persistent right middle lobe ate lec tasis ha ve asthma . But
a ll tha twheezes is not a sthma .91) H ome pea k flow monitor ing is most he lpful in those asthma tic pa tients with ve r y
labile disease or poor symptomrec ognition.92) A nor ma l respira tor y ra te str ongl y argues a ga inst a bacte ria l
pneumonia.93) U pper lobe pne umonia s with radia tion of pa in to the nec k can cause meningis mus and mi mic
appendicitis; lower lobe pne umonia s can present with abdominal pa in.94) Na sal pol yps or rectal pr ola pse in childre n
sugge sts c ystic f ibr osis.95) The three most common causes of ana ph yla xis in pe diatric hospitals and e mergenc y
de partments are la te x, f ood,and drugs. Suspec ted a lle rgie s to she llfish, peanuts, and nuts wa rrant a prescription for an
epinephrine pen beca use of the increased r isk of future ana ph yla xis.96) U p to 10% of nor ma l, health y childre n ma y
ha ve low-le ve l (1:10) positive - antinuc lear antibody (AN A) te stingthat will re ma in positive. Without c linical or
laborator y features of disea se, it is of no signif ica nce.97) The da il y spiking fe ve rs of s yste mic juve nile rhe uma toid
ar thr itis can prece de the de ve lop me nt of ar thr itis b ywee ks to months.98) Antistreptolysin O antibodie s are positive in
onl y 80% of patie nts with acute rheumatic fever. Test f or anti-DNase B antibodies to increase the like lihood to mor e
tha n 95% when dia gnosing a rece nt gr oup A be ta-he mol ytic infection.99) Beca use up to 10% of patie nts can ha ve
as ympt oma tic Bor relia burgdorfe ri infec tion and beca use bothi mmunogl obulin M and immunoglobulin G antibodies to
B. burgdor fer i can per sist f or 10-20 ye ar s, the dia gnosis of Lyme disease in older children and adole scents can
be tric ky in pa tients with a typical c linical pre se nta tions.100) Abdomina l pa in ( mimic king an acute abdome n) and
ar thr itis can fre que ntly precede the rash in Henoc h-Schnle in pur pura disease and thus conf use the dia gnosis.
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Kap lan Vide os (2001) Ne onat ology w ith Dr. Edu ardo Pino,
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Newborn Skin
 * Ne wborn infant at bir th is noted to ha ve acr oc yanosis, a hear t rate of 140, gr ima ces to stimula tion, and is ac tive with
a lust y cr y. Wha t is he r AP GAR sc ore? * AP GAR sc or e 0: no heart rate , no re spirations, no muscle tone, no refle x
irrita bilit y (e .g. bulb suc tion), blue bod y.* AP GAR sc ore 1: H R < 100, wea k cr y, some extre mit y f lexion, some refle x
motion, pink bod y blue extre mities.* AP GAR sc or e 2: H R > 100, vigor ous cr y, ar ms/le gs fle xed, refle x
cr y/withdra wa l, pink a ll ove r.* Virginia Apgar, an anesthesiologist, de ve lope d the APGAR sc ore. U seful tool f or
immedia te assessme nt of thec hild. It is not use d for la ter in life , onl y at birth. U sef ul f or dete r mining pr ogr ession of
re suscita tion.* AP GAR is f or appeara nce, pulse , gri ma ce, activit y, and re spira tions.* Sc or e 0 to 3 a t one minute
requires resusc itation. Do not wait f or one minute though. 4 can be poor a lso.* Poor sc ore at 5 minute s doe s not
pre dict subse que nt cerebral pals y. Poor sc ore a t 20 minute s predic ts higher morbidit y and mor ta lit y.* Sc ore 8 to 10 is
good. Sc ore s 5 to 7 are fa ir. Ne wborn is any child under the a ge of 28 da ys.* Ne wborn infants has a blue -gr a y
pigmented le sion on the sacra l area. It is clearl y de marca ted and doe s not fadeinto the surr ounding skin. Wha t is the
most like l y dia gnosis? Answer is Mongolian spot. The y are mor e commonlysee n in dar k-skinne d races. Up to 5% of
Cauca sian ne wborns will ha ve it.* D iffe rential dia gnosis inc lude s child abuse , so document Mongolian spots to
pre vent subse que nt issue s. Bruiseswill fade into surr ounding skin; in tha t case c onsider child abuse . Mongolia n spots
can occ ur on an y par t of the bod y, typically see n on the buttoc ks or sacral area. The y fa de in months to a yea r.*
Mongolian spots caused b y heighte ned receptor response to me la noc yte stimula ting hor mone .

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010 DO NOT DISTRIBUTE - 6 -* Er ythe ma toxicum is ver y common in
ne wbor ns and should be differentiated fr om sta ph yloc oc cal sca lded skins yndr ome (SSSS). Er ythe ma toxicum doe s not
appear in the f irst da y of life , usually shows in 2-3 da ys. It ischarac ter ized b y er ythe matous ma cule s that can bec ome
blister s or pustule s. It is migr ator y, such that the ne xt da ythe re ma y be c learing in some spots and ne w er ythe ma in
other spots.* Pustules of er ythe ma toxic um ne ona tor um (red ra sh of the ne wbor n) , if sc rape d, will c onta in ma ny
e osinophils.* Sta ph yloc occa l sca lded skin ma y be pre sent in the f irst da y of life , ma y prese nt with pustules, skin will
star t to peel off. If you scra p it, it will f or m a blister like a bur n (Nikolsky sign) . Pustule s will be full of neutr ophils.*
SSS babie s will be ill, toxic in appeara nce, can ha ve se psis.* Treat er ythe ma toxic um with rea ssura nce of the
pare nts.* Sebace ous gland hyper pla sia looks like lots of little whitehea ds, in areas tha t are more oil y like nose .
Treatment isto lea ve the m alone.* Milia c omes in fine -white ( miliaria cr ysta llina) and red ( milia ria rubra) . Benign.*
E bste in pear ls are commonl y seen in the mouth ( muc ous me mbra nes) along the midline, just a collec tion of stratif ie d
epithe lium and tends to go awa y. D o not conf use with torus pa la tinus, an actual de f or mit y of the hard pa la te where it
cur ves down. That is per mane nt and can be c ove red b y muc ous me mbrane , cause no issue s.* Cutis mar mor ata looks
like cobblestone blood-ve sse ls. Ca n oc cur when the ba by is c old. It is sec ondar y tova somot or instabilit y. As the y ge t
older, it ge ts better. Cutis ma r mora ta te langiecta sia conge nita doe s not go awa y asthe child ge ts older. Cutis
ma r mora ta some ti me s see n in Down syndr ome .* Ne onata l acne (acne ne ona tor um) is a he ightene d receptor re sponse to
c irculating e str oge ns. U sua ll y shows ar ounda we e k to two we e ks. Goe s a wa y, no nee d to treat with acne me dica tions.*
Ne wborn has a f lat salmon-colore d lesion on the gla bella , which bec ome s dar ker red when he cr ies. Wha t is the best
c ourse of mana ge ment? This is a salmon pa tc h, also known a s ne vus f la mmeus. Best cour se of mana ge ment
isrea ssura nce of pare nts. This goe s a wa y a s the child ge ts older. Ne vus simplex is a lso known a s stor k bite . * Salmon
pa tc h seen ove r the e ye lids, br idge of the nose, and bac k of the nec k. Also known as a stor k bite ( on thenec k) or
angel kisses ( on the fore head/nose).* Nevus f la mmeus divided into sa lmon patch ( goe s a wa y) and port-wine sta in
(does not go a wa y, he mangioma ,a ssociated with Sturge-Weber s yndr ome. 50% of babies are born with salmon pa tch.
Facial lesions tend to go a wa y,nec k le sions ma y sta y but are covere d with ha ir.* Ca pillar y he ma ngioma, also known as
stra wberr y he mangioma usuall y star ts as fla t mac ula r lesion. Ma y ge t la rge r dur ing f irst fe w months of a ge , raise d
lesion. After fir st yea r of life , the y tend to re gr ess slowl y. In genera l, there isno nee d to go cut the m out a s this results
in bleeding since the y are a collec tion of blood ve ssels. No need to do laser trea tme nt either. Onl y do trea tme nt if the
lesion is over a vital struc ture.* Ba by pre sents with capillar y he mangioma on the skin and stridor. Think about
subglotic he ma ngioma.* As capillar y he mangiomas ge t bette r, the y start to tur n bluish and ge t boggy like an abscess.*
Ne vus sebace ous (ne vus of Ja dassohn) is pre sent at bir th. It is sa lmon fle sh y c olor ed and there will be no hair gr owth
c oming thr ough the lesion. The y are only seen on the scalp. Treatme nt is to follow until adole scent a ge andthen
re move . There is some minor risk of ma ligna nc y, so re move after child is no longe r gr owing.* Caf -au-la it are light-
br own in c olor (c offee with milk) and also known as gir affe spots. The y ma y or ma y not be assoc ia te d with
under lying diseases (ne ur ofibr oma tosis, Mc Cune Albright s yndr ome , Von H ipple Lindau).* Harle quin ba by will ha ve
redder skin close r to the gr ound/gr a vit y. This is due to vasomot or insta bilit y.
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Birth Traum a
* Cephalhe ma toma is a c ollection of f luid unde rnea th the bone . Must be diffe rentiate d fr om caput he matoma .
Ace pha lhe matoma is a subper iosteal blee d, since it is benea th the bone it is limite d by the bone , thus it will not
cr ossthe suture lines. A caput is a sca lp swe lling so it does cr oss suture lines.* Cephalhe ma toma s te nd to get wor se
ove r a fe w da ys and can ta ke we e ks to months to re solve. As the resolve , youca n feel the volca no r im or cra ter, whic h
is the edge of the cepha lhe matoma. Even if the y are bila tera l, the y will notcr oss the suture line so you should be able
to feel a gr oove in be twee n the he ma toma s.* Ca put he matoma s sta rts to ge t better as soon as the bab y is delive red.*
D ifferential dia gnosis of a cepha lhe matoma includes a depre ssed skull fracture .* Subcutane ous fat nec r osis is a type
of bir th inj ur y. Assoc iate d with birth tra uma or forceps use. Will be f ir mr ubber y nodule s, can be seen an ywhe re like
chee ks, buttoc ks, bac k, extre mities.* Brac hia l pa lsie s oc cur with stre tc hing of the brac hial ple xus, suc h as f orce ps or
ar m pulling.* Er b-Duche nne pa ls y involve s C5-C6 and ar m will be interna ll y rota te d, wrist f lexe d, waite r s tip or
sec retsmoke r. Ipsila tera l he mi-diaphra gma tic paral ysis me ans C4 is also affec te d.
S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010 DO NOT DISTRIBUTE - 7 -* Klumpke pa ls y involves C8-T 1 and
ha nd will ha ve finger s fle xed, c la w ha nd. If sympa the tic fibe rs of T1 areaffected the child ma y ha ve a H or ner
s yndr ome. H or ner is anhidr osis, ptosis, myosis. Horner is a gu y whosef or ehea d is dr y, cant see the sky, and has a
small e ye .* Fac ia l palsy will ha ve no ipsilate ral move ment with cr ying. These pa lsies tend to be fa irl y mild and
re solve.* Cla vicle is the most c ommonl y frac ture s bone during de liver y. Ba bies tend to be large f or gestationa l age,
such a swhe n the mother has ge stationa l diabe te s. Shoulder dystocia during de liver y pre disposes to frac ture. Bab y ma y
notmove the ir ar m well or has an as ymme tr ic Mor o response or mother notice s a lump (callous a lread y f or ming) .
For the most par t, the se fix the mse lve s, no nee d to splint in a f igure -of -e ight. Ma y feel crepitus on affecte d side .*
Subc onjunctiva l he mor rha ges are te mpora r y. You see blood in the e ye, due to birth pre ssure .
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Con genital An omalies
* Coloboma is a defect in the ir is, ma y look like a ke yhole, also known as la tc h ke y e ye . Ca n ha ve a coloboma
of the e yelid, chor oid, or retina .* Aniridia is lac k of ir is, usua ll y bilateral. Bab y will not ha ve a colore d part of the
e ye. Anir idia plus he mi- hypertr ophy is associated with Wilms tumor.* Congenita l catarac t will ha ve no red-reflex on
the affecte d side . E ye appears cloud y, there is an opacity in the lens.Bab y ma y be born with catarac t or be de veloping
it due to some thing like ga lac tose mia.* White refle x implies re tinoblastoma until pr oven other wise . Red ref lex and be
red or or ange or ta n.* Pre-aur icular skin ta gs are generally a nor ma l va riant. There is a slightl y higher a ssociation
with clef t lip/palate .* Pre -auricular dimple or pit is a nor mal va riant. There is a slightly higher association with
hear ing abnor malitie s.* Micr otia is gr ossl y ma lf or me d missha pen ears. Much higher association with rena l
abnor malitie s (e.g. P otter).* Macr oglosia is huge tongue , can obstruc t the air wa y and cause feeding difficultie s. Can
be see n in D owns yndr ome, Bec kwith-Wie de mann S yndr ome , or a nor mal va riant.* Ankyloglossia also known as
tongue tie at the bottom of the tongue. Generally no nee d to inter vene . Do not snipthe a ttac hme nt as there is an
ar ter y tha t runs thr ough this area . If ba by can ge t tongue to edge of gums ( most can) the y will be able to nur se we ll
and spea k we ll.* Br anc hia l cle ft c ysts are generall y unila teral and can bec ome infec ted, dra in, require antibiotic s, and
some time snee d to be c losed or re move d.* Congenita l tor tic ollis also known as wr y nec k is ba lling- up
of ster noc le idoma stoid. Child will kee p its hea d tothe side . You ma y be able to feel a knot on that side of the nec k.
Treat with pa ssive range of motion, moving hea d toopposite side . Some tortic ollis pa tients ma y ha ve a he mi- ve rte bra
in the nec k assoc ia te d with cer tain s yndr omes.* Brea st hyper tr oph y is due to he ightene d response of receptor s to
c irculating hor mones. It goe s awa y as the bab yge ts older. There ma y e ve n be disc harge fr om the breast.*
Supernume rar y nipple s (polythe lia) will be anywhere along the ma mmar y milk lines. There is an assoc ia tionwith
rena l and cardiova sc ular anoma lie s. Most pe ople with pol ythe lia do not ha ve pr oble ms though.* P oland syndr ome is
absence of the pec tor alis musc le with a ma stia on tha t side, can ha ve rib def or mities, we bbedf inger s, and radial ne r ve
apla sia .* Pec tus exca va tum a lso known as f unnel chest and pectus carinatum also known as pige ons chest . These
arenor ma l va riants and should be lef t alone . Ver y rarel y do the y cause cardiac pr oble ms, suc h as cor pulmona le
fr om pec tus exca vatum. Most c ommon reason f or ha ving the m f ixe d is cosmetic.* Pol yc ystic kidne y is the most
c ommonl y pa lpa te d ma ss in the abdomen of a ne onate. Next most c ommon is likel ya large bladder, ma ybe sec ondar y to
poster ior urethra l valve s.* U mbilica l her nia s are commonly seen. This is inc omple te closure of the fa scia umbilical
r ing. O ld sc hool mythwas to put a la rge coin on it and ta pe it down. Treatme nt is to lea ve it alone . Af ter about a yea r,
the y will ha vec lose d either wa y (coin ta ping or lea ving it a lone). Near ly a ll c lose by a ge 5.* O mphaloce le is due
to e mbr yol ogic de ve lopme nt. Inte stine s come out in-uter o, do 270-de gree flip, and come bac k in. In ompha loc ele , the
intestine s did not come bac k in. There is a sac -cele with this def or mit y. This is a midlinedefec t and is a surgical
e merge nc y. Gene rall y, this is dia gnosed on ultra sound so the surgica l tea m is ready at birth.* Ga str osc hisis doe s not
ha ve a sac . This is usua ll y to the right of the umbilic us. Since it is not c onta ined, there is a muc h highe r risk f or
volvulus and malr ota tion. More like ly to ha ve isc he mia . Surgica l e me rge nc y.* Impe rf ora te anus can occ ur. Ne ver
ta ke a ne wborns te mpe rature with a rec tal ther mome ter as this could pe rf ora te the anus. S ymptoms include no
defeca tion within the fir st 24 hour s of lif e.* Epispadia s is urethra l mea tus opening on the dorsum of the penis.
H ypospadia s is on the ventra l side. Right belowthe tip of the glans is a f ir st-de gree, a long the sha ft is a sec ond-
de gree, and at the base of the shaf t is third-de gr eeh ypospadia s. U sua ll y there is a hoode d prepuce seen in h ypospa dia s
or isola te d chor dee . H ypospa dia s is acontra indication f or circ umc ision a s all the tissue will be nee ded f or the repa ir.

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010 DO NOT DISTRIBUTE - 8 -* Retractile te stic le mea ns there is an active
cre master ic ref lex, where te stic le slide s up with touching or c oldte mpe rature . Unde scended testicle me ans it is not
pa lpable or is palpa ble in the inguina l canal but cannot be br oughtdown. If it is undesce nde d at one yea r of a ge , it has
to be surgically br ought down as there is a higher r isk of ma ligna nc y and will bec ome atr ophic.* Ebste in pearls can
a lso oc cur on the penis; an ywhere with muc ous me mbrane s.* H ydr oce le suspected with enlarged sc r otum. Can be
transilluminate d. Her nias reduce, h ydr oce les do not.* S yndact yl y is whe n finge rs do not se parate in de velopment. X -
ra y to de ter mine if 1 or 2 finger s. If 2 f ingers,surger y ma y be c onside red.* P ol yda ct yl y is extra f inger s. If there is a
well de ve loped bone with vascular suppl y, c onsider lea ving finger. If no bone pre se nt in extra finge r or just a stalk,
tie -off with a suture and it will auto- amputate .* Amniotic band oc cur s whe n there is a little tear in the a mnion in-uter o
and the bab y ge ts its f inger thr ough. Whenthe a mnion heals up, it c ompresse s and crea tes a band. Could cause
phoc ome lia where entire ar m is def or med.
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Neon atal Screenin g Tests
* O ne-month old fair-ha ire d fair-skinned ba by prese nts with pr ojec tile vomiting of 4-da ys duration. Physical
exa mre veals a bab y with ecze ma and a must y (mous y) odor. Which screening te st would most like ly be abnor ma l?
T his ba by prese nts similar to p yloric stenosis. This is phe nyl ke tonuria (PKU) .* Maj or three for scree ning are P KU ,
ga lac tose mia , hyp oth yr oidism. Some place s will te st for maple syr up urinedisease or sic kle cell ane mia .* P KU is
a defect in the h ydr ox yla tion of phen yla lanine to t yr osine . It is autosoma l rece ssive . Wha t are the chance stha t this
fa mily will ha ve another affecte d child? Answe r is 1 in 4. Occurs in about 1:10,000 live bir ths.* In PKU, ba bie s are
nor ma l a t birth. Mental retar dation is the most c ommon ma nife station. Commonl y see n in fair-ha ire d, fa ir-skinne d,
blue-e yed popula tion. Ra sh looking like atopic der ma titis or eczema ma y be present.* Screening te st f or PKU is
be st done at 48-72 hours after star ting to ta ke in pr otein.* If positive PKU screening te st, the n do blood le ve ls of
phen yla la nine (high) and tyr osine (nor ma l le ve ls).* Treatment f or PKU is die tar y, low phen yla la nine f or mula and then
low phen yla la nine diet. Avoid things likea sparta me ( sugar substitute) , which is c ommon in die t dr inks.* Complica tions
inc lude menta l reta rda tion, micr ocephal y, and conge nital heart disea se.* Ga lac tose mia is a defec t in ga lactose-1-
phosphate-uridyltra nsfe rase . Patients are unable to metabolize ga lac toseand the le ve ls will accumulate in the kidne y,
live r, and brain. It is autosomal recessive.* Dua rte var ia nt of ga lactose mia is as ymptoma tic , no c linical signif icance .*
Ba bies will ha ve a va riet y of s ympt oms including vomiting, jaundice, h ypogl yc e mia , seizure s, ca taracts
(due togalactitol in le ns), enlarged liver or spleen, ga in weight poor l y, high risk of E . coli se psis.* Trea tme nt is to
e limina te galactose fr om the die t. One of the few contra indications to breast feeding, should use soy for mula . Although
the y are treate d, ba bies tend not to do as well, ma y ha ve de velopmental de la y or speec h andlear ning pr oble ms.
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Mate rnal D iabete s
* You are called to see a 9.5lb newborn infant who is jitter y. Ph ysica l exa m re vea ls a la rge ple thoric (red,
rudd y) ba by who is tre mulous. A mur mur is heard. Blood suga r is low. This is a bab y bor n to a mother with diabe te s or
whode ve loped gestationa l diabe tes.* Ba bie s te nd to be macr osomic ( big bab y). Ba bie s te nd to de ve lop h ypogl yce mia
beca use the y ha ve highc ircula ting le ve ls of sugar in-uter o so the bab y over pr oduces insulin. Once bor n, the increa se d
insulin and lac k of materna l suga r leads to hypogl yce mia. Insulin w or ks as a gr owth hor mone , so not onl y is the ba by
ge tting lots of calorie s it is hor mona ll y enha nced in size.* Since the y are large f or gestationa l age, the y can ge t bir th
trauma such as br oken cla vic le or shoulder d ystoc ia.* Along with hypogl yce mia, the y can ge t h ypoc alce mia
and hypoma gne se mia . Some time s the y will ha ve re spira tor ydistress s yndr ome beca use insulin can bloc k surfac tant
pr oduction.* Infants of diabe tic mothers are at higher r isk for h yper tr ophic cardiomyopa th y. In ge nera l, the y will ge t
be tter over ti me , b y about 6 months of age.* Infa nts can ge t hyperbilirubine mia and polyc ythe mia . At highe r risk
f or other c ongenita l anomalies like ve ntr ic ular se ptal de fects, atrial septal defects, and transposition of the gr eat
ar teries. At higher risk f or lumbosacra l agene sisa nd spec ifically sma ll or laz y le ft c olon, which can appear
like Hir sc hsprung or me c onium ileus.* Trea tme nt is to c ontr ol mother s blood sugar while fetus is in-uter o. After birth
monitor the ba bies and trea th ypoglyc e mia until the y adj ust their insulin le vels.* Complications inc lude diabe te s
and obe sit y de velopment as childr en.

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010 DO NOT DISTRIBUTE - 9 -

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Size For Ge stational Age
* Most scale s to dete r mine if child is appr opriate for age include a ph ysica l sca le and ne ur oma turation sca le .* Ba llar d
sca le (D ubowitz is another) , looks a t muscular ma turit y, posture , skin, la nugo, pla ntar crease s, breastde velopment, ear
stiffne ss, genita lia, etc .. Repea t exa m 24 hour s la te r, helps c ompensate for things like depre ssantme dications ta ken b y
mother. Pre mature ba bies will ha ve flopp y ear s because stiff car tila ge has not de ve lope d.* Small f or ge sta tional a ge
does not matter if ba by is pre -ter m, ter m, or post-ter m. Onl y sa ys if the size isappr opriate f or that par ticular
gestationa l age.* Shiny skin in a bab y implies little subcuta ne ous tissue , so there was not enough ti me to de velop the
tissue .* Labia maj ora being wide and not cover ing la bia minor a is also a sign of pre ma turit y.* As ma le ge ts to ter m,
sc r otum gets dar ke r, mor e wr inkles, and teste s de scend into scr otu m.* Lots of lanugo hair implie s pre -ter m.* Fle xion
a both hips and knee s is a good sign. Ar m fle xion as well. Lust y cr y is good.* Most ba bies star t to peel at two-wee ks
of a ge . N o nee d to put lotion on it, lea ve skin alone. A post-ter m bab y ma yha ve peeling a t birth and longer na ils.*
Ter m infa nt we ights 4lbs a t birth. Ph ysica l exa m re vea ls a small infa nt with a dispr opor tiona ll y la rge head. The mother
ha s a histor y of smoking dur ing pre gna nc y (r isk of pre ma turit y, IU GR) . This ba by is small for ge sta tionala ge ,
intrauter ine gr owth restr iction ( IU GR) . S ma ll f or gestationa l age is below the third perce ntile f or tha t
par ticular gestationa l age.* S ymme tr ic mea ns the ba by is the sa me pr opor tions. As ymme tr ic is whe n the head is bigge r
tha n the bod y, these babie s ha ve a better pr ognosis. It implies that the bra in has bee n spared.* IU GR is assoc ia ted
with an y factors tha t decrea se oxygenation to fetus including chr omosome s, TORCH infections, c ongenita l anoma lies,
irradia tion, insulin def icienc y. Place ntal fac tor s inc lude sma ll placenta , infracted place nta , partia l abr uption, twin to
twin transf usion. Mate rna l factors inc lude toxe mia of pre gnanc y, h ype rte nsion, ma lnutr ition, tobacc o use , narc otic use,
a lc ohol use .* Ba llar d sc oring helps to de ter mine gestationa l age, the n we ight and plot out bab y.* IU GR ba bies are at
higher r isk of c old stre ss (not enough fa t) and h ypogl yc e mia (no gl yc ogen store s) .* S ma ll f or gestationa l age (SGA)
ba bies at r isk f or pol yc ythe mia beca use the y ha ve more h ypoxia and pr oduce mor e he moglobin and cells.
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Neon atal Drug Withdrawal
* A two da y old infant is notice d to ha ve cour se jitters and is ve r y irr itable , with a high-pitche d cr y. A low gra defe ver
is reported as well as diarrhea . Ma terna l histor y is positive f or her oin use .* Moms will sa y as soon as I hear d I was
pre gna nt I quit doing drugs. D o not be lie ve the m, drug test.* Most c ommon elicit drugs that a ba by goe s thr ough
withdrawal fr om are na rc otics and cocaine .* You can urine dr ug screen the bab y as well.* Her oin ha s a shor te r half -
life tha n me tha done so the ba bie s will withdra w sooner. Heroin a couple of da ys,metha done a c ouple of wee ks.*
H yperac tivit y, irr itabilit y, fe ve r, diarrhea (c lassic) , fussy bab y, inc onsolable , alwa ys suc king, think withdrawal.*
Phe nobarbital ta ke s a couple of we e ks for withdra wal s ympt oms.* Trea tme nt is put child in long acing narc otics (e.g.
me thadone) and slowly we an ba by. Mini mize sti mulus,swa ddle ba by, wr ap up bab y the y like to be held tightly
and close ly.* Complications of ne ona ta l drug withdra wal is low bir th weights, higher risk f or anomalies, highe r risk
f or sudde ninfa nt dea th syndr ome , and higher risk f or mother s c omplications of dr ug use (e.g. he patitis, HIV) .
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Re spiratory D ise ase s
* Shortl y afte r birth, a 33 wee k ge sta tion infant de ve lops tac hypnea , nasa l fla ring, grunting, and require s
intubation.Che st radiogr aph shows a haz y gr ound-gla ss appeara nce of the lungs. Suspect respira tor y distress s yndr ome
( RDS) .T his is sec ondar y to surfac ta nt def ic ienc y, seen almost exclusivel y in pre ter m ba bie s.* Surfac ta nt decrea se s
surface tension, pre venting alve oli fr om c ollapsing. S o lac k of surfac ta nt causes alve oli toc olla pse leading to
a telec ta sis. The atelecta sis leads to the gr ound-glass haz ine ss.* Blood ga se s will be poor due to ventilation-perf usion
mis ma tc h caused b y the a telec ta sis.* Valsa lva ma ne uver increa ses pressure in the che st and he lps to ke ep a lve oli open.
When child needs to let out theair to brea th in, the y will grunt.* U sua ll y it ta kes about three da ys f or child to ge t
be tter. One of the first signs of impr ove ment is diere sis. N o rea ldia gnostic test f or RDS , more of a c linical dia gnosis
with he lp fr om the x-ra y. Aside from the poor ly de ma rcated

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010 DO NOT DISTRIBUTE - 7 -* Klumpke pa ls y involves C8-T 1 and
ha nd will ha ve finger s fle xed, c la w ha nd. If sympa the tic fibe rs of T1 areaffected the child ma y ha ve a H or ner
s yndr ome. H or ner is anhidr osis, ptosis, myosis. Horner is a gu y whosef or ehea d is dr y, cant see the sky, and has a
small e ye .* Fac ia l palsy will ha ve no ipsilate ral move ment with cr ying. These pa lsies tend to be fa irl y mild and
re solve.* Cla vicle is the most c ommonl y frac ture s bone during de liver y. Ba bies tend to be large f or gestationa l age,
such a swhe n the mother has ge stationa l diabe te s. Shoulder dystocia during de liver y pre disposes to frac ture. Bab y ma y
notmove the ir ar m well or has an as ymme tr ic Mor o response or mother notice s a lump (callous a lread y f or ming) .
For the most par t, the se fix the mse lve s, no nee d to splint in a f igure -of -e ight. Ma y feel crepitus on affecte d side .*
Subc onjunctiva l he mor rha ges are te mpora r y. You see blood in the e ye, due to birth pre ssure .
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Con genital An omalies
* Coloboma is a defect in the ir is, ma y look like a ke yhole, also known as la tc h ke y e ye . Ca n ha ve a coloboma
of the e yelid, chor oid, or retina .* Aniridia is lac k of ir is, usua ll y bilateral. Bab y will not ha ve a colore d part of the
e ye. Anir idia plus he mi- hypertr ophy is associated with Wilms tumor.* Congenita l catarac t will ha ve no red-reflex on
the affecte d side . E ye appears cloud y, there is an opacity in the lens.Bab y ma y be born with catarac t or be de veloping
it due to some thing like ga lac tose mia.* White refle x implies re tinoblastoma until pr oven other wise . Red ref lex and be
red or or ange or ta n.* Pre-aur icular skin ta gs are generally a nor ma l va riant. There is a slightl y higher a ssociation
with clef t lip/palate .* Pre -auricular dimple or pit is a nor mal va riant. There is a slightly higher association with
hear ing abnor malitie s.* Micr otia is gr ossl y ma lf or me d missha pen ears. Much higher association with rena l
abnor malitie s (e.g. P otter).* Macr oglosia is huge tongue , can obstruc t the air wa y and cause feeding difficultie s. Can
be see n in D owns yndr ome, Bec kwith-Wie de mann S yndr ome , or a nor mal va riant.* Ankyloglossia also known as
tongue tie at the bottom of the tongue. Generally no nee d to inter vene . Do not snipthe a ttac hme nt as there is an
ar ter y tha t runs thr ough this area . If ba by can ge t tongue to edge of gums ( most can) the y will be able to nur se we ll
and spea k we ll.* Br anc hia l cle ft c ysts are generall y unila teral and can bec ome infec ted, dra in, require antibiotic s, and
some time snee d to be c losed or re move d.* Congenita l tor tic ollis also known as wr y nec k is ba lling- up
of ster noc le idoma stoid. Child will kee p its hea d tothe side . You ma y be able to feel a knot on that side of the nec k.
Treat with pa ssive range of motion, moving hea d toopposite side . Some tortic ollis pa tients ma y ha ve a he mi- ve rte bra
in the nec k assoc ia te d with cer tain s yndr omes.* Brea st hyper tr oph y is due to he ightene d response of receptor s to
c irculating hor mones. It goe s awa y as the bab yge ts older. There ma y e ve n be disc harge fr om the breast.*
Supernume rar y nipple s (polythe lia) will be anywhere along the ma mmar y milk lines. There is an assoc ia tionwith
rena l and cardiova sc ular anoma lie s. Most pe ople with pol ythe lia do not ha ve pr oble ms though.* P oland syndr ome is
absence of the pec tor alis musc le with a ma stia on tha t side, can ha ve rib def or mities, we bbedf inger s, and radial ne r ve
apla sia .* Pec tus exca va tum a lso known as f unnel chest and pectus carinatum also known as pige ons chest . These
arenor ma l va riants and should be lef t alone . Ver y rarel y do the y cause cardiac pr oble ms, suc h as cor pulmona le
fr om pec tus exca vatum. Most c ommon reason f or ha ving the m f ixe d is cosmetic.* Pol yc ystic kidne y is the most
c ommonl y pa lpa te d ma ss in the abdomen of a ne onate. Next most c ommon is likel ya large bladder, ma ybe sec ondar y to
poster ior urethra l valve s.* U mbilica l her nia s are commonly seen. This is inc omple te closure of the fa scia umbilical
r ing. O ld sc hool mythwas to put a la rge coin on it and ta pe it down. Treatme nt is to lea ve it alone . Af ter about a yea r,
the y will ha vec lose d either wa y (coin ta ping or lea ving it a lone). Near ly a ll c lose by a ge 5.* O mphaloce le is due
to e mbr yol ogic de ve lopme nt. Inte stine s come out in-uter o, do 270-de gree flip, and come bac k in. In ompha loc ele , the
intestine s did not come bac k in. There is a sac -cele with this def or mit y. This is a midlinedefec t and is a surgical
e merge nc y. Gene rall y, this is dia gnosed on ultra sound so the surgica l tea m is ready at birth.* Ga str osc hisis doe s not
ha ve a sac . This is usua ll y to the right of the umbilic us. Since it is not c onta ined, there is a muc h highe r risk f or
volvulus and malr ota tion. More like ly to ha ve isc he mia . Surgica l e me rge nc y.* Impe rf ora te anus can occ ur. Ne ver
ta ke a ne wborns te mpe rature with a rec tal ther mome ter as this could pe rf ora te the anus. S ymptoms include no
defeca tion within the fir st 24 hour s of lif e.* Epispadia s is urethra l mea tus opening on the dorsum of the penis.
H ypospadia s is on the ventra l side. Right belowthe tip of the glans is a f ir st-de gree, a long the sha ft is a sec ond-
de gree, and at the base of the shaf t is third-de gr eeh ypospadia s. U sua ll y there is a hoode d prepuce seen in h ypospa dia s
or isola te d chor dee . H ypospa dia s is acontra indication f or circ umc ision a s all the tissue will be nee ded f or the repa ir.
S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010 DO NOT DISTRIBUTE - 8 -* Retractile te stic le mea ns there is an active
cre master ic ref lex, where te stic le slide s up with touching or c oldte mpe rature . Unde scended testicle me ans it is not
pa lpable or is palpa ble in the inguina l canal but cannot be br oughtdown. If it is undesce nde d at one yea r of a ge , it has
to be surgically br ought down as there is a higher r isk of ma ligna nc y and will bec ome atr ophic.* Ebste in pearls can
a lso oc cur on the penis; an ywhere with muc ous me mbrane s.* H ydr oce le suspected with enlarged sc r otum. Can be
transilluminate d. Her nias reduce, h ydr oce les do not.* S yndact yl y is whe n finge rs do not se parate in de velopment. X -
ra y to de ter mine if 1 or 2 finger s. If 2 f ingers,surger y ma y be c onside red.* P ol yda ct yl y is extra f inger s. If there is a
well de ve loped bone with vascular suppl y, c onsider lea ving finger. If no bone pre se nt in extra finge r or just a stalk,
tie -off with a suture and it will auto- amputate .* Amniotic band oc cur s whe n there is a little tear in the a mnion in-uter o
and the bab y ge ts its f inger thr ough. Whenthe a mnion heals up, it c ompresse s and crea tes a band. Could cause
phoc ome lia where entire ar m is def or med.
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Neon atal Screenin g Tests
* O ne-month old fair-ha ire d fair-skinned ba by prese nts with pr ojec tile vomiting of 4-da ys duration. Physical
exa mre veals a bab y with ecze ma and a must y (mous y) odor. Which screening te st would most like ly be abnor ma l?
T his ba by prese nts similar to p yloric stenosis. This is phe nyl ke tonuria (PKU) .* Maj or three for scree ning are P KU ,
ga lac tose mia , hyp oth yr oidism. Some place s will te st for maple syr up urinedisease or sic kle cell ane mia .* P KU is
a defect in the h ydr ox yla tion of phen yla lanine to t yr osine . It is autosoma l rece ssive . Wha t are the chance stha t this
fa mily will ha ve another affecte d child? Answe r is 1 in 4. Occurs in about 1:10,000 live bir ths.* In PKU, ba bie s are
nor ma l a t birth. Mental retar dation is the most c ommon ma nife station. Commonl y see n in fair-ha ire d, fa ir-skinne d,
blue-e yed popula tion. Ra sh looking like atopic der ma titis or eczema ma y be present.* Screening te st f or PKU is
be st done at 48-72 hours after star ting to ta ke in pr otein.* If positive PKU screening te st, the n do blood le ve ls of
phen yla la nine (high) and tyr osine (nor ma l le ve ls).* Treatment f or PKU is die tar y, low phen yla la nine f or mula and then
low phen yla la nine diet. Avoid things likea sparta me ( sugar substitute) , which is c ommon in die t dr inks.* Complica tions
inc lude menta l reta rda tion, micr ocephal y, and conge nital heart disea se.* Ga lac tose mia is a defec t in ga lactose-1-
phosphate-uridyltra nsfe rase . Patients are unable to metabolize ga lac toseand the le ve ls will accumulate in the kidne y,
live r, and brain. It is autosomal recessive.* Dua rte var ia nt of ga lactose mia is as ymptoma tic , no c linical signif icance .*
Ba bies will ha ve a va riet y of s ympt oms including vomiting, jaundice, h ypogl yc e mia , seizure s, ca taracts
(due togalactitol in le ns), enlarged liver or spleen, ga in weight poor l y, high risk of E . coli se psis.* Trea tme nt is to
e limina te galactose fr om the die t. One of the few contra indications to breast feeding, should use soy for mula . Although
the y are treate d, ba bies tend not to do as well, ma y ha ve de velopmental de la y or speec h andlear ning pr oble ms.
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Mate rnal D iabete s
* You are called to see a 9.5lb newborn infant who is jitter y. Ph ysica l exa m re vea ls a la rge ple thoric (red,
rudd y) ba by who is tre mulous. A mur mur is heard. Blood suga r is low. This is a bab y bor n to a mother with diabe te s or
whode ve loped gestationa l diabe tes.* Ba bie s te nd to be macr osomic ( big bab y). Ba bie s te nd to de ve lop h ypogl yce mia
beca use the y ha ve highc ircula ting le ve ls of sugar in-uter o so the bab y over pr oduces insulin. Once bor n, the increa se d
insulin and lac k of materna l suga r leads to hypogl yce mia. Insulin w or ks as a gr owth hor mone , so not onl y is the ba by
ge tting lots of calorie s it is hor mona ll y enha nced in size.* Since the y are large f or gestationa l age, the y can ge t bir th
trauma such as br oken cla vic le or shoulder d ystoc ia.* Along with hypogl yce mia, the y can ge t h ypoc alce mia
and hypoma gne se mia . Some time s the y will ha ve re spira tor ydistress s yndr ome beca use insulin can bloc k surfac tant
pr oduction.* Infants of diabe tic mothers are at higher r isk for h yper tr ophic cardiomyopa th y. In ge nera l, the y will ge t
be tter over ti me , b y about 6 months of age.* Infa nts can ge t hyperbilirubine mia and polyc ythe mia . At highe r risk
f or other c ongenita l anomalies like ve ntr ic ular se ptal de fects, atrial septal defects, and transposition of the gr eat
ar teries. At higher risk f or lumbosacra l agene sisa nd spec ifically sma ll or laz y le ft c olon, which can appear
like Hir sc hsprung or me c onium ileus.* Trea tme nt is to c ontr ol mother s blood sugar while fetus is in-uter o. After birth
monitor the ba bies and trea th ypoglyc e mia until the y adj ust their insulin le vels.* Complications inc lude diabe te s
and obe sit y de velopment as childr en.

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010 DO NOT DISTRIBUTE - 9 -

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Size For Ge stational Age
* Most scale s to dete r mine if child is appr opriate for age include a ph ysica l sca le and ne ur oma turation sca le .* Ba llar d
sca le (D ubowitz is another) , looks a t muscular ma turit y, posture , skin, la nugo, pla ntar crease s, breastde velopment, ear
stiffne ss, genita lia, etc .. Repea t exa m 24 hour s la te r, helps c ompensate for things like depre ssantme dications ta ken b y
mother. Pre mature ba bies will ha ve flopp y ear s because stiff car tila ge has not de ve lope d.* Small f or ge sta tional a ge
does not matter if ba by is pre -ter m, ter m, or post-ter m. Onl y sa ys if the size isappr opriate f or that par ticular
gestationa l age.* Shiny skin in a bab y implies little subcuta ne ous tissue , so there was not enough ti me to de velop the
tissue .* Labia maj ora being wide and not cover ing la bia minor a is also a sign of pre ma turit y.* As ma le ge ts to ter m,
sc r otum gets dar ke r, mor e wr inkles, and teste s de scend into scr otu m.* Lots of lanugo hair implie s pre -ter m.* Fle xion
a both hips and knee s is a good sign. Ar m fle xion as well. Lust y cr y is good.* Most ba bies star t to peel at two-wee ks
of a ge . N o nee d to put lotion on it, lea ve skin alone. A post-ter m bab y ma yha ve peeling a t birth and longer na ils.*
Ter m infa nt we ights 4lbs a t birth. Ph ysica l exa m re vea ls a small infa nt with a dispr opor tiona ll y la rge head. The mother
ha s a histor y of smoking dur ing pre gna nc y (r isk of pre ma turit y, IU GR) . This ba by is small for ge sta tionala ge ,
intrauter ine gr owth restr iction ( IU GR) . S ma ll f or gestationa l age is below the third perce ntile f or tha t
par ticular gestationa l age.* S ymme tr ic mea ns the ba by is the sa me pr opor tions. As ymme tr ic is whe n the head is bigge r
tha n the bod y, these babie s ha ve a better pr ognosis. It implies that the bra in has bee n spared.* IU GR is assoc ia ted
with an y factors tha t decrea se oxygenation to fetus including chr omosome s, TORCH infections, c ongenita l anoma lies,
irradia tion, insulin def icienc y. Place ntal fac tor s inc lude sma ll placenta , infracted place nta , partia l abr uption, twin to
twin transf usion. Mate rna l factors inc lude toxe mia of pre gnanc y, h ype rte nsion, ma lnutr ition, tobacc o use , narc otic use,
a lc ohol use .* Ba llar d sc oring helps to de ter mine gestationa l age, the n we ight and plot out bab y.* IU GR ba bies are at
higher r isk of c old stre ss (not enough fa t) and h ypogl yc e mia (no gl yc ogen store s) .* S ma ll f or gestationa l age (SGA)
ba bies at r isk f or pol yc ythe mia beca use the y ha ve more h ypoxia and pr oduce mor e he moglobin and cells.
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Neon atal Drug Withdrawal
* A two da y old infant is notice d to ha ve cour se jitters and is ve r y irr itable , with a high-pitche d cr y. A low gra defe ver
is reported as well as diarrhea . Ma terna l histor y is positive f or her oin use .* Moms will sa y as soon as I hear d I was
pre gna nt I quit doing drugs. D o not be lie ve the m, drug test.* Most c ommon elicit drugs that a ba by goe s thr ough
withdrawal fr om are na rc otics and cocaine .* You can urine dr ug screen the bab y as well.* Her oin ha s a shor te r half -
life tha n me tha done so the ba bie s will withdra w sooner. Heroin a couple of da ys,metha done a c ouple of wee ks.*
H yperac tivit y, irr itabilit y, fe ve r, diarrhea (c lassic) , fussy bab y, inc onsolable , alwa ys suc king, think withdrawal.*
Phe nobarbital ta ke s a couple of we e ks for withdra wal s ympt oms.* Trea tme nt is put child in long acing narc otics (e.g.
me thadone) and slowly we an ba by. Mini mize sti mulus,swa ddle ba by, wr ap up bab y the y like to be held tightly
and close ly.* Complications of ne ona ta l drug withdra wal is low bir th weights, higher risk f or anomalies, highe r risk
f or sudde ninfa nt dea th syndr ome , and higher risk f or mother s c omplications of dr ug use (e.g. he patitis, HIV) .
-- ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ------ ---
-- -
Re spiratory D ise ase s
* Shortl y afte r birth, a 33 wee k ge sta tion infant de ve lops tac hypnea , nasa l fla ring, grunting, and require s
intubation.Che st radiogr aph shows a haz y gr ound-gla ss appeara nce of the lungs. Suspect respira tor y distress s yndr ome
( RDS) .T his is sec ondar y to surfac ta nt def ic ienc y, seen almost exclusivel y in pre ter m ba bie s.* Surfac ta nt decrea se s
surface tension, pre venting alve oli fr om c ollapsing. S o lac k of surfac ta nt causes alve oli toc olla pse leading to
a telec ta sis. The atelecta sis leads to the gr ound-glass haz ine ss.* Blood ga se s will be poor due to ventilation-perf usion
mis ma tc h caused b y the a telec ta sis.* Valsa lva ma ne uver increa ses pressure in the che st and he lps to ke ep a lve oli open.
When child needs to let out theair to brea th in, the y will grunt.* U sua ll y it ta kes about three da ys f or child to ge t
be tter. One of the first signs of impr ove ment is diere sis. N o rea ldia gnostic test f or RDS , more of a c linical dia gnosis
with he lp fr om the x-ra y. Aside from the poor ly de ma rcated

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 10 -hea rt border and haz ine ss, there ma y
be a ir br onchogr a ms.* Treatment of RDS star ts with pre ve ntion, ge tting bab y to ter m and gi ving mother ste r oids to
he lp ma ture the babie s lungs. Can treat newborn with surfac ta nt, ve ntilate if neede d, give f luids if neede d, antibiotics
if neede d.* Complica tions inc lude pne umothor ax, plugging, intra ventr icular he mor rha ges, se psis, pulmonar y
interstitiale mphyse ma, chr onic lung disease ( br onchopulmonar y dyspla sia) .* Transient tac hypnea of the ne wbor n
(TT N) , similar to RDS s ympt oms but with a ter m bab y. Assoc ia ted with arapid sec ond sta ge of la bor or Cesa rean
sec tion as ba by does not ge t the bir th squeeze tha t he lps pr oduction of surfactant. Ba by will ha ve tac hypnea, ma y
require a little oxygen, fa irl y clea r x-ra y, te nds to go awa y in a few da ys.* Mec onium aspiration s yndr ome
ha s symptoms of respira tor y distress but with histor y of mec onium- staineda mniotic f luid. Seen in ter m babie s.
Rupture me mbrane s with me c onium is a c lue , me c onium under the bab ysf ingerna ils or around the umbilicus is
another clue. CXR is typical of aspira tion pne umonia . Mec onium is like thic k pudding, suppose dl y ster ile but can
cause pne umonitis and air-trapping if it get into the lungs.* Air-trapping in the lungs lea ds to h ypoxia . This causes
vasodila tion ever ywhe re in the body except the lungs. Inthe lungs, h ypoxia causes vasoc onstriction, lea ding to
shunting. In ne wbor n, the shunting goe s thr ough a pa tentduc tus ar teriosus or f ora men ovale. This cause s mor e
de oxygenated blood to go out into the bod y, causing more hypoxia , fur the r va soc onstr ic ting the pulmona r y vesse ls,
whic h can cause pe rsiste nt feta l circ ulation or pr ima r y pulmonar y hypertension of the newbor n.* Treatme nt f or
me c oniu m aspira tion is to pre vent it with good suc tioning of the or ophar ynx once the hea d isdelive re d. Ne w
rec omme ndations is not to intubate ba bies and suc tion the m unless the y are ha ving se verere spira tor y pr oble ms with
c yanosis. Pre ve ntion of h ypoxia includes good ve ntilator mana ge ment, pulmonar yva sodila tor s such a s nitr ic oxide,
and sometime s extrac orporeal me mbra ne oxygenation (E CMO) .* D iaphra gmatic hernia and choa nal a tresia are
unc ommon cause s of re spira tor y distre ss.* With respira tor y s ympt oms, alwa ys think about the heart and worr y about
me ta bolic acidosis, hypogl yce mia,hypothe r mia . Others inc lude he morr ha ge , ede ma , dr ugs, twin-twin tra nsfusion,
and hyper visc osit y.* D iaphra gma tic he rnia symptoms are child with respirator y distre ss, sca phoid abdome n (f lat
or sunken), bowelsounds in the che st, x-ra y showing ga stric air bubble or bowe l above the diaphra gm.* Treatment f or
dia phra gma tic her nia in infa nt is surgical. Once surger y is completed, pr oble m is that the affecte dside (almost alwa ys
left) is not ve r y we ll de ve lope d, pulmonar y hypoplasia . Shif t of thor acic contents to thec ontra lateral side (right) leads
to poor de velopment of tha t lung as well.
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Jaun dice In The Newborn
* Indirect bilirubin is 11.2, direc t is 0.4, physical exa m is unre ma r ka ble except visible jaundice.* Ne onata l jaundice
occ urs when indir ect bilirubin is deposite d in the skin. H yperbilir ubine mia is physiol ogic or pa thologic . Bilirubin is
de scr ibe d as c onj uga te d (direct) or unc onj uga ted ( indirect).* Physiologic jaundice is high unc onj uga ted.* Major
sour ce of bilir ubin is he moglobin, also myoglobin and c yt oc home -oxidase s yste m.* Infants who are h ypoxic in-uter o
will ma ke more he moglobin, so whe n bor n the y ma y ha ve he moglobins if 18 or 19, higher circulating re d blood cell
volume s, shor ter la sting red cells ( 60-90 da ys) . As these RBCs die off there is aload of he moglobin relea se d, imma ture
live r cannot handle this so it ge ts store d in the skin.* Ph ysiologic jaundice is jaundice tha t doe s not pre se nt in the
f irst da y of life , doe s not go high ( max 12.9-15) , pea ksar ound the 3-5 da y mar k, goe s awa y about 7-10 da ys. Preter m
ba bies are given 10-14 da ys to resolve ph ysiologic jaundice. N o trea tme nt neede d* Br east milk jaundice usua ll y
pre se nts b y one -we e k of a ge , non-e ste rif ie d fatty ac ids displace the bilirubin fr om thealbumin molec ule leading to
ye llow bab y, no treatment neede d.* Babie s with conj uga ted h ype rbilir ubine mia and cla y-c olor ed acholic
stools, suspec t biliar y atre sia.* Wor k-up jaundice b y ge tting bilir ubin le vel with c onj uga te d and unc onjugate d,
he moglobin, and blood t ype of both ba by and mother.* Photothera py is good f or unc onjugate d hyper bilirubine mia,
photoisomer ize s it to a f or m tha t is easier tome ta bolize. D o not put a ba by with direct (conj uga ted) hyperbilirubine mia
under light thera py or the y will ge t br onze bab y s yndr ome.* E xcha nge tra nsfusions can be use d if child is still
he molyz ing after light therap y, usua ll y for Rh inc ompa tibilit y.* ABO inc ompa tibilit y is mor e common tha n Rh, but it
is milder. Rh inc ompa tibility is pre ve nta ble by gi vingmother Rh immune globulin (RhoGAM) .* Ge netic disorder s
causing jaundice inc lude spher oc yt osis, G6P D, p yr uva te kinase defect, he moglobinopathies(thalasse mia s) ,
ga lac tose mia .* G6PD usua ll y pre se nts la ter, once exposed to oxidiz ing a ge nt, fa va bea ns, antimalar ials, dapsone, moth
ba lls.

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 11 -* Jaundice can come
fr om extra vasc ular blood such as pe tec hiae , he ma toma , pulmonar y or cerebra l he mor rha ges,and swa llowe d blood.
E xa mple would be facia l bruising dur ing a diffic ult de liver y, like face to pubis prese ntation.* Ja undice can come from
pol yc ythe ma suc h as ma ter nal-fe tal transf usion, twin-to- twin-tra nsfusion, or place nta ltransf usion (c or d str ipping
towar d bab y).* Mec hanica l obstruc tions can cause jaundice , suc h as atre sia, ste nosis, Hir schsprung, mec onium ile us,
me c oniu m plug syndr ome .* Unde r-secretion jaundice with Gilbert syndr ome , Crigler-Najjar syndr ome .* Other
jaundice cause s are TORCH infections, hepa titis, pre matur it y, infants of diabe tic mothers.* In twin-to- twin-
transf usion, larger ba by ha s higher risk f or jaundice and highe r risk f or pr oble ms.* Photothera py can cause some
diarr hea, but tha ts a lright cause the yr e removing the bilirubin.* D ouble volu me s transf usions help to
re move circ ula ting antibodies, re move bilirubin, and increase he mogl obin.* Er ythr obla stosis feta lis (hydr ops feta lis)
occ urs with he molysis in-uter o, low he moglobin high output failure,ca using ana sarca and dea th.
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Neon atal Sepsis
* A 3wee k old infa nt prese nts with ir rita bilit y, poor feeding, te mperature of 102F, and gr unting. Physical exa mr e vea ls
a bulging f ontane lle and de la ye d capillar y ref lex.* Sepsis is a syste mic re sponse to infection. Divided in ne wbor ns
into ear ly onse t and late onset. Ear ly onset iswithin the fir st 7 da ys of life . La te onset is 8-28da ys of lif e.* Neona ta l
se psis risk factors inc lude ma ter nal infec tion, pre ma turit y, pr olonged rupture of me mbra nes.* Most common bac ter ial
cause of ne ona tal sepsis is gr oup B stre p (G BS ). E . coli and lister ia are distant sec ond andthir d. Initial choice of
antibiotic s cover s all three.* Vira l causes of ne onata l se psis include her pes simplex and ente r ovir uses.* S igns
and symptoms are non-spec if ic , gr unting, fussiness, poor feeding, tac hypnea , respira tor y distress, apnea .* Ne wborns
do not alwa ys ha ve fe ver. Some time s the y will present with hypothe r mia or te mperature instabilit y.* Ne ona tes with
f ontane ls usually do not prese nt with nucha l r igidit y as the pressure can go to the fonta nelle ,causing it to
be fuller /bulging.* Wor k-up include s CBC, lumbar puncture to rule out me ningitis, blood cultur e, ur ine culture, skin
lesion culture ,che st x-ra y to rule out pneumonia.* Treatment is antibiotic s (a mpic illin + 3r d ge nera tion
cephalospor in) , fluid mana ge ment, attention to de ta ils.* Antibiotic choice could also be a mpicillin + a minogl yc oside.
Worr y with aminogl yc oside about nephr otoxicitya nd ototoxicit y. Follow a minogl yc oside le ve ls and do hearing scree ns
later on.* Penicillin or a mpicillin gi ve n to mother at least 4 hours prior to delive r y will reduce the r isk of ne onatal
se psisfr om gr oup B streptoc occ us.* D ifferential inc lude s respira tor y diseases, metabolic disease s, intracra nial
he mor rha ge, TORCH infec tions.
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Tran splacental Infec tion s
* TORCH : Toxoplasmosis, O ther ( syphilis, va ricella) , Rube lla, C ytome ga lovirus, Herpe s si mplex virus.* Majorit y of
TORCH infections oc cur when mothe r is in the first or sec ond tr ime ster.* Toxopla smosis is transmitted b y inge sting
underc ooke d or raw infec te d me at. It is also f ound in cat feces,infec tion transmitte d from handling used kitt y litter.*
Toxopla smosis can be mild in the adult, but the pr oble m is when the bab y catc hes it via the mother.* Signs
inc lude intrac ranial calcifications, 40% infection ra te if during 1st or 2nd trimester, IU GR, mic r oce pha l y,spa stic it y,
se iz ures, blindne ss, retinitis, hepa tosplenome ga l y (HS M).* Dia gnosis is via isolation fr om place nta or cord blood,
TORCH IgM tite rs, IgM ELIS A. Toxopla smosisimmunosorbent a gglutination a ssa y can be use d.* Treatment of toxo
during pre gnanc y is spira myc in or p yr ime tha mine + sulf ona mide . Postnata l (ba by) trea tme nt is pyr imetha mine +
sulfadiaz ine + leuc ovor in f or six months. Leuc ovor in decreased the pr oble ms with bone marr owsuppr ession seen in
chr onic sulfa drug use . Ster oids for choriore tinitis.* C ytome ga lovirus ( CMV) is the most common c ongenita l, 40%
transmission to ba by.* S ymptoms include SGA, pe tec hiae , HSM, thr omboc yt ope nia , direct hyperbiliribune mia.*
Culture ur ine, blood, CS F, thr oat, placenta. L ook for periventr ic ular calc ifications (in brain) .* CMV
causes chor ior etinitis as we ll. Ca lcifica tion ar ound periventr ic ula r area. V in CMV and ve ntricular.* No trea tme nt
f or CMV, usua ll y ba bies do not do we ll, ge t mental re tarda tion, micr oce pha ly, liver pr oble ms.* Var ice lla (chic kenpox)
is divided into ne ona tal (delive re d within a wee k bef ore or af ter mater nal disease onset)a nd c ongenita l.

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 12 -* Ne ona tal trea ted with var ice lla zoster
immune globulin (V ZIg), if the mother de velops the disea se 5 da ys bef ore to2 da ys af ter delive r y. Give ac yclovir as
well. This is more se rious beca use the mother ha s not de velope d antibodies.* Congenita l va ricella assoc ia te d with
limb-h ypopla sia , scar ing, mic r oce pha ly, chor ior etinitis. Give ac yc lovir.* Rubella ha s an 80% tra nsfer rate if mother is
infec ted in f irst trimester.* Rubella clinica ll y cause s me nta l reta rda tion, micr ocephal y, hea rt defec ts (PD A, pulmonar y
ste nosis) , catarac ts,H SM, thr omboc yt ope nia , def tne ss, blue berr y muffin bab y.* Blue berr y muffin due to pur puric
lesions from thr omboc yt ope nia , add jaundice and it looks like the muffin.* D ia gnose via IgM titer s f or rubella .
Pre ve ntion is to immunize mother prior to pre gna nc y. An yone born af ter 1957should receive a sec ond MMR
vacc ination.* Herpe s simple x is acquired dur ing passa ge thr ough the bir th canal. C-sec tion not 100% f or pre venting
HSV.* Primar y disea se is whe n the mothe r ge ts the disea se f or the first ti me , so no antibodie s, thus lots of
transmission tothe ba by. With recurre nt ge nital her pes the re is low transmission ra tes.* Deliver y can be va ginal
if culture is ne ga tive and no lesions seen. D o C-sec tion if an y lesions or P ROM.* Loc al HSV is pre sent at 5-14 da ys
on skin, e yes, mouth (SEM). D isse mina ted HS V pre sents at 5-7 da ys with pne umonia , shoc k, hepa titis. CNS HSV
pre se nts at 3-4 we e ks with letha rgy, se iz ures, insta bilit y.* If the CSF ta p come s bac k c lean but HSV s ymptoms, the
tap is not clea n. Think HSV.* SEM ( loca l) HSV ha s about a 95% chance of nor mal de ve lopme nt. Disse minate d is about
60%. CNS is about35%, with only 5% if se iz ures prese nt. Mortalit y is high with disse mina ted e spec ially with
pneumonitis.* Treatment of HSV is with ac yc lovir.* S yphilis is divide d into earl y (first 2 ye ar s of life ) or la te
ma nifesta tions.* S ymptoms of earl y syphilis are fe ve r, ane mia , FT T, mac ulopa pular ra sh, snuffle s (runn y nose) ,
HS M.* If you re suspecting s yphilis and ba by ha s gliste ning snuffle s below nose, thats not booge rs, thats tre pone ms,
you be tter put on a glove . That ll be hard to expla in, how you got s yphilis fr om a ba by.* Late sta ge manifesta tions
inc lude periostitis, sa ber (shape d) shins, Hutchinson ( notche d) tee th, sa ddle nose,rha gade s (linea r scars at angle of
mouth), Clutton joints ( symme tr ic j oint swelling), Jarisc h-Her xhe ime r reaction( fe ver and rash with penicillin,
s yste mic reaction to tre pone ms be ing kille d).* Dia gnosis with RP R and FTA-ABS. Dar k f ield mic r osc opy can be done
too.
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G astrointestinal
* A ne wbor n is note d to ha ve choking and ga gging with its f ir st fee d, then de velops re spira tor y distre ss. Che st x-
ra yshows an aspiration pneumonia and a feeding tube coile d in the esopha gus. This is a trac he oe sopha geal
f istula (T E F) . There are va rious kinds, most c ommon is esopha gus into a blind pouc h and a fistula into the trac hea
dista ll y.* TEF assoc ia te d with prena tal histor y of polyh ydr a mnios.* Dia gnosis is clinica l. Treatme nt is surgica l
repa ir.* Look f or other abnor malitie s, such a s conge nital hea rt disease suc h as a PD A, va sc ular rings, c oa rcta tion.
L ook for ve rtebra l anoma lies, ana l-rec tal anoma lie s, renal issues. Mainl y look at the hear t.* D ouble -bubble sign seen
in duodena l atre sia. H istor y will be bilious vomiting. H igher assoc iation with D owns yndr ome .* Hirsc hspr ung disease
(a lso called c ongenita l a ga nglionic me gac olon) should be suspec te d in an y ne wborn that ha snot passe d stool in
the f irst 24-48 hours. Also c onsider imperf or ate anus, mec onium plug, and mec onium ile us. On bar ium ene ma, the
enlarged area is nor ma l. The thing area is where the pr oble m is, stool bac ks up pr oximall y.* Gold sta nda rd (be st test)
f or dia gnosis f or H irschspr ung disea se is colon biopsy looking f or aganglionic area.* Necr otiz ing enter oc olitis (NEC)
is the most c ommon me dica l and surgical GI emergenc y of the ne wbor n. Look f or a histor y of a pre ter m infant
and perina tal asphyxia (low AP GAR sc ore s) . As bab y ge ts fed, the y get bloody stoolsor starts to ge t distended,
lethargic.* Most appr opr ia te te st is an abdominal film, looking f or pne uma tosis inte stina lis. Pneumatosis intestina lis
is air inside the bowel wa ll (not just in the bowel lumen). Air inside the bowe l wall implies NE C.* Trea tme nt for NE C
is bowel rest, antibiotic s, and sometime s surger y to re move par ts of bowe l if it ge ts necr otic.
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Neon atal Seizu re s
* In the ne wbor n intensive care unit (NICU) , a ne wbor n is note d to ha ve suc king move ments, tongue thrusting,
and brief apne ic spells. The blood counts and che mistries are nor ma l.* Ne onatal seiz ures do not genera ll y pre sents
with tonic /clonic se iz ures like the y do in older adults.* Ca use s of ne ona ta l seizure s include hypoxic isc he mic
ence pha lopa th y ( most c ommon) . Se izure s typica ll y pre senta t 12-24 hours af ter birth.* Intra ventr icular he mor rha ge
usua ll y prese nts with se izures af ter 24hours. Think respirator y distress s yndr ome or pre matur ity as cause of
intra ve ntricular he morr ha ge.* With intra ventr icular he mor rha ge, ma y see bulging f onta nelle or blood y spina l that tha t
does not clot. Clottingwould imply a traumatic tap, not clotting would imply intra ventr ic ula r he mor rha ge .* U ltrasound
or CT scan of head f or dia gnosis.* In se izure s, alwa ys chec k metabolic cause s. Alwa ys chec k a blood sugar.
H ypogl yce mia can cause seizure s and isea sily correc ta ble . H ypoca lce mia can a lso cause seiz ures.* Foc al seiz ures
pre se nt with rh ythmic twitching, usually of the face and extre mities. Multif oca l clonic involves ma ny musc le gr oups.
Tonic ( stiff) and clonic (jerking) .* Subtle seizure s pre sent with tongue thrusting and apneic spe lls. This is more
c ommon in newbor ns than sa y atonic -clonic seizure .* D ia gnostic tests for se iz ures inc lude blood suga r, elec tr olyte s,
EE G, CT or ultra sound of hea d, lumbar punc ture.

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Teratogens
* Any fe ma le of childbea ring a ge who is going to go on isotr etinoin f or the ir acne must ge t a pre gnanc y te st and to be
told not to ge t pre gna nt. Can cause facia l and ear anoma lies, conge nital heart disea se.* Phen ytoin can
cause characteristic facie s, h ypopla stic na ils, Cupids bow mouth.* Tha lidomide cause s li mb abnor malitie s.*
Tetrac ycline causes ena mel hyper pla sia and teeth disc olora tion.
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Newborn Re su scitation
* You are called to attend the delive r y of a 22 yo G1P0. She has bee n f ollowed in the pre natal c linic and all
culture sare ne gative . The pa tient is ter m and mec onium is visualize d.* Newborns past medical histor y is the moms
histor y. Ask about medications the mother is ta king. Ask how man y ba bies are being bor n.* Re suscita tion in
the ne ona te includes twin ge sta tion, pre ma turit y, and me c onium.* In childre n who nee d resusc itation, it is usually
caused b y accidents or illne sse s par ticular ly respira tor y disease .T he maj or ity of code s in children are re spira tor y in
na ture, ensure air wa y mana ge ment.* 1996 JAMA article Car diopulmonar y Re susc itation on Tele vision - Mirac les
and Misinf or mation por tra yssuccessf ul re suscita tion in the ma j or it y of ca ses. This t ype of inf or mation can lead the
general public to belie veresuscita tion is far more succe ssful than it rea ll y is ( maj ority die if resusc itation effor ts are
nee ded) .* H ypote nsion is a bad sign. This implie s compensa tor y mec hanis ms (e.g. ca techola mine s) ha ve been used
up.* In childre n, the younge r you are the faster your hear t ra te and re spira tor y rate .* Treatme nt is ABC: air wa y,
brea thing, circ ulation. Temperature is impor ta nt a lso.* Air wa y: is the airwa y pa te nt? D o I nee d to intuba te? *
Br eathing: are the retrac tions, grunting, na sal flar ing? * Cir culation: hear t rate? Bl ood pressure? Skin c olor? Ur ine
output? Capilla r y ref ill? * Newbor n intubation bla de is 0 or 1 (Miller ). Endotrac heal tube (ETT ) about size 3. ETT =
(a ge + 16) / 4. Inc hildren under 8-ye ar s of a ge , it is recommende d that an uncuffe d ETT be use d.* D o not do Heimlich
ma ne uver on children unde r age 1, do bac k sla ps. N o blind finger sweeps on an ybod y.
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Kap lan Vide os (2001) Grow th & Develop men t w ith Dr. Eduard o Pin o,
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Breastfeedin g
* A nursing mother a sks if her 3 month old ba by requires an y vita min supple me ntation. Answe r is no. What
aboutf luoride , vita min D , ir on? N ot ye t.* Age 0-12 months is 100kca l/kg/da y, 2.5-3gm/kg/da y pr otein.* Age 1-7 yea rs
is 75-90kca l/kg/da y, 1.5-2.5gm/kg/da y pr otein.* Age 7-12 ye ar s is 60-75kca l/kg/da y, 1.5-2.5gm/kg/da y pr otein.* Age
12+ ye ar s is 30-60kca l/kg/da y, 1-1.5gm/kg/da y pr otein.* Br east is best, human breast milk is the be st a bab y
can ha ve. Rec omme nded that it be use d exclusive l y f or up tosix months. Brea st milk plus bab y foods up to a ye ar of
a ge . Af ter 1 ye ar, tend to go off brea st milk to whole milk.* Adva nta ge s of brea st milk include conve nience ( pre-
mixed, right te mpera ture) , no ster iliza tion require d, ma te rna l-infa nt bonding, less frequent hospita lizations, possible
increa se in IQ , optima l absorption of nutrie nts/vita mins/tracee le ments, possible pr otection fr om alle rge n exposure ,
much le ss obesity risk.* Br east milk ha s IgA, lac toglobulins, ma te rna l macr opha ge s. Less risk of U RIs and otitis
me dia.* Brea st feeding is not a c ontraceptive me thod ( myth). It does allow mother to return to prec once ption weight
fa ste r as mother is losing an additional 500 ca lor ies a da y by nursing. Ute rus regre sse s to nor mal size faster
( ox yt oc in) .* Par t of ne wborn care is administe ring vita min K (1mg IM) to pre vent he mor rha gic disease of
the ne wbor n.Vita min K is ma de in the gut with the he lp of bacte ria , which ne wbor ns do no ha ve .* Vita min K is pre sent
is brea st milk. Fluoride is rec omme nded af ter 6 months of a ge . Fluoride is a lso recommende dif you are using read y-to-
feed f or mula. If you are mixing f or mula with water, you ha ve to know wha t the loca l water supply conta ins (fluor ide
or not). Vita min D to bab y only if mother does not ha ve ade qua te vita min D inta ke ,exa mple w ould be culture s that are
full y clothed and do not ge t enough sun exposure for vita min D c onver sion. Ir onf ortified f oods given at 4-6 months
of a ge .* Fe w c ontra indications to brea st fee ding, such as active TB, s yphilis, H IV, va ricella , ga lac tose mia, he rpe s if
ac tivelesions on the brea st.* Dr ug affecting brea stfeeding include atr opine , antic oa gulants (hepar in safe) , antith yr oid
dr ugs, antime tabolites,ca thar tics (except se nna) , dihydr ota ch yster ol, iodides, narc otics, radioac tive prepara tions,
br omides, ergot,te trac yc lines, metr onidaz ole, antine opla stic s, a lka loids, chlora mphenic ol, c yclosporin, nic otine ,
a lc ohol, ster oids,diure tics, ora l contrace ptive s, nalidixic acid, sulf ona mides, lithium, reser pine , diphe nylh yda ntoin,
bar bitura tes.* Absolute drug contra indications to breastfee ding inc lude antine oplastic s (che mo), alkaloids,
chlor a mphe nic ol,c yclosporin, nic otine , alc ohol, lithium, ra diophar ma ceuticals ( iodine), a tr opine .* Re la tive
dr ug c ontraindica tions to brea stfee ding inc lude seizure me dications, neur ole ptic s, seda tives,
tranquilize rs,me tr onidaz ole, tetrac ycline , sulfa , ster oids.* Ma stitis is not a c ontraindica tion to nur sing. Br eastfee ding
during ma stitis he lps mother rec over quic ker. Mother can ta ke antibiotic and still nur se.

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Formula Fee din g
* For mula fee ding is used a s a substitute or as a supple me nt. A maj ority of f or mula s are cows milk ba se d and
areadj uste d to be a s close to brea st milk as possible.* Common f or mula is 20 calories per ounce .* H uma n milk is
1.2g/dL pr otein (7% calor ie s) , 4g/dL fat (54% calories) , 6.8g/d L carbohydra te s (40% calor ie s) .* S oy for mula is
1.5g/dL pr otein (9% ca lor ies), 3.8g/dL fa t (50% calor ie s) , 6.9g/dL carboh ydra tes (41% ca lor ie s).* Wh ole milk is
3.3g/dL pr otein (20% calorie s) , 3.7g/dL fat (50% calories), 4.9g/d L carbohydr ate s (30% calories) .* Whole c ows milk
is good for ba by c ows or an yone over 1 yea r of a ge . Higher r isk for alle rgie s, GI blood loss,and ane mia if started
ear ly. Ir on is not absorbed well and the y get GI blood loss.* 13mo c ome s in with a he mogl obin of 6. Mother ha s been
using cows milk since 4mo. Thats the cause.* Whole cows mil k has a high solute load on the kidne y. 87mE q/mL in
huma n, 227mE q/ mL in cows.* Vita min D is recommende d if the f or mula does not ha ve it, but just ge t out in the sun
and you ll be f ine .* G oa ts milk must be supple mente d with folic ac id.* If poor ir on inta ke, f oods conta in ir on and are
star te d at 6 we e ks.* Solids should be intr oduced at about 4-6 months of a ge . Bab y can hold its head up, suc k-swallow
me cha nism is bette r, lowe r risk of allergies. Star t a ne w solid one at a ti me , one per wee k to deter mine if the y like it
and allergies.* A mother sta te s tha t her infa nt is ha ving episode s of inc onsola ble cr ying ever y night f or the pa st 5
nights. Hedra ws his le gs up and his abdomen bec omes rigid. The episodes re solve a s quic kly as the y c ome on and the
re st of the da y he acts nor ma ll y. N o dia gnostic tests f or c olic.* Usually colic star ts about 3 wee ks of age and lasts to 3
months of age, no one rea ll y under stands it, cra mping thingtha t happens, babies cr y then swa llow air and ge t more
cra mping, pa ss ga s, dra w the ir le gs up.* Gene rall y, rh ythmic motions he lp for c olic. Patting the bab y, bounc ing the
ba by, car r ide s. S ometime s you can useanti- ga s medications like simethic one . Typica ll y occ urs at the sa me time
of night.* Differe ntia l f or c olic include s intussusception, her nias, strangula ted ha ir (e .g. mother s hair ar ound toe ).* A
3 yo boy is see n f or chr onic illne ss. He appea rs ede matous and apathe tic with thin ha ir. Gene ralize d der ma titis isnoted.
Spar se ha ir and decrease d musc le tone is noted. This is kwashior kor, pr otein-ca lor ie ma lnutrition.* Vita min
def ic ienc ie s are of te n assoc ia ted with kwashior kor. Usuall y it occ urs af ter the y wea n from the breast because the y
arent ge tting the nutr ition the y need, seen in poor societie s.* Ede ma is due to pr ote in loss, thus loss of onc otic
pre ssure in abdome n. Decreased ser um albumin, dec rease d bloodgluc ose, dec rease d essential a mino ac ids. Mortality
can reach 30-40% .* Treatme nt of kwashior kor is slow feeding, replacing quic kly can ma ke things w or se, plus give
vita mins.* Vita min A def ic ienc y causes night blindness. Thia min def ic ienc y lea ds to ber i ber i. Niac in def ic ienc y lea ds
to pe lla gra .* N o hone y is rec omme nded in the first ye ar of lif e due to risk of infantile botulism.* Botulism pre sents
as a desce nding para lysis (ver sus Guilla in-Ba rre whic h is asce nding).
* Inf antile botulism is due to the spore s the mse lve s. In adults, botulis m is due to the toxin.
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G rowth, D isorde rs of Heigh t, & Disorde rs of Weight
* A fa ther is c oncerne d that the ir 13 yo son is short. The child ha s been ver y hea lth y, is below the 5th pe rcentile
f or height and has bee n his whole life. Ph ysica l exa m is nor mal. Father is 6 3, mothe r is 510. Father was a
late bloome r mea ning gr owth spurt wa s la ter tha n usual.* Gr owth is an increa se in size, f or m, and biologic
ma turation.* Gr owth cha rt shows length until the y are old enough to stand, then it is he ight.* 2 standard de viations
above 50th perce ntile is 97th perce ntile (high nor mal).* 2 standar d de viations be low 50th perce ntile is 3r d percentile
( low nor ma l).* A child tha t is shor t most of the ir ear ly ye ar s than ends up in the nor ma l ra nge is c onstitutiona l gr owth
de la y.* Child tha t is just below the minimal for nor ma l he ight but is following the cur ve . Fa ther is 56 , mother 5 1.
T heta llest pe rson in the fa mil y is 5 7. This is fa milia l shor t sta ture.* A child tha t is 50th pe rcentile f or se ve ral ye ar s
tha n dr ops to be low 3rd pe rcentile is w or risome . This c ould be a pituitar y tumor, craniophar yngioma , Tur ner
s yndr ome, or other cause s of fa lling off the gr owth cur ve.* Pathologic shor t sta ture and c onstitutional shor t sta ture
both star t with child in nor ma l ra nge f or he ight.Constitutiona l will eventually reach adult height, pathologic will fa ll
off. Past fa mil y me mber histor y is impor ta nt.* Ph ysica l exa m ma y be helpf ul if a s yndr ome is involved. Any fe ma le
with shor t sta ture should be e va luate d f or Tur ner syndr ome (e.g. kar yot ype) .* La bs could inc lude CBC, urinal ysis
(chr onic re nal disease ), LFTs, T FTs (h ypothyr oid), gr owth hor mone.* Wrist f ilms can tell you bone age. If patie nt is
12yo and shor t, bone age is 9yo, you know there is room f or the pa tient to gr ow still.* If you suspect pituitar y tumor,
craniophar yngi oma, do a skull film looking f or an enlarged sella turc ica .* Trea tme nt is to c or rect the under lying
disease . Gr owth hor mone will he lp some patie nts.* D ifferential inc lude s hypopituitar is m, de privational dwarfism,
Tur ner, h ypoth yr oidis m, chr onic disea se .* Maj ority of patie nts who are ta ll are nor ma l. D oubtful tha t any N BA
ba ske tball pla ye r has Marfan s yndr ome .* Cause s of increase d height inc lude obe sit y, gr owth hor mone exce ss
( giga ntism, acrome gal y) , andr oge n exce ss (talla s childre n, shor t as adults) , hypoth yr oidism, homoc ystinur ia , cerebra l
gi ga ntism (S otos s yndr ome) , Bec kwith- Wie de mann syndr ome, Wea ver-S mith s yndr ome, Klinefelter s yndr ome .*
D isorders of we ight include fa ilure to thrive and obe sit y.* A bab y we ighs 16lbs a t 1 yea r of age. H is bir th we ight wa s
8lbs. Parents sta te that the ba by fee ds well. Physicalexa m re vea ls a ba by with little subc utane ous fat, long dir ty
f ingerna ils, impetigo, and a flat oc ciput.* Failure to thrive (FT T ) me ans you are not gaining weight appr opriatel y or
losing your rate of weight ga in.* FT T causes inc lude ma lnutrition, malabsor ption (infection, celiac disea se, chr onic
diarr hea) , allergie s, immune def icienc ies, chr onic disea ses.* Ba b y should double their birth weight in about 4-5
months. By 1yo, the y should ha ve tripled their birth weight.* I mpe tigo, f lat occ iput, and long dirt y finger nails implie s
the ba by is not being ta ke n care of. Bab y is not be ingcleane d or cared f or, oc ciput is f lat beca use bab y is just la ying
the ir on its bac k a ll da y long.* H ospitaliza tion ma y be necessar y to document how man y ca lor ie s the y are ge tting,
to teach the parents to do ita ppr opr ia te ly, to ge t the fa mil y the re sources the y need to feed the ba by.* In childre n who
do not gain weight after these me asure s, c onsider a swear chloride test f or c ystic fibr osis ( CF).* Obe sit y is a
generalize d over-accumulation of fa t, generally due to ove reating without exerc ise . Mother ma y givethe ba by a bottle
e ver y time it crie s, so it gets use to mor e calories. Gr andma ma y sa y a fat bab y is a health y ba by. * Trea tme nt is die t
and exercise .* There are some syndr ome s associate d with being ove r we ight and obese, but the y are rare . Exception
to the rule.* Risk fac tor s are parenta l obe sit y, fa mily inactivity (T.V., vide o ga me s) , feeding in response to any cr ying,
toomuch fr uit juice in f ir st yea r of life, and some s yndr ome s.* Childre n present not only fat, but possibly with
increa sed he ight. Boys ma y ha ve increase d fat tissue in the ma mma r y region (looks like gyne c oma stia) , abdominal
str iae , pubic fa t pad in boys ma ke s it look like a micr ope nis.* Bod y mass index ( BMI) cur ve over 95% or ove r 30.*
Complications include risk of adult obesit y (with h ype rte nsion, hypergl yce mia, str oke , MI) , cardiova scular pr oble ms,
slipped capital epiph ysis, sleep apnea.* Differe ntia l include s endocr ine and ge ne tic cause s, rarel y.
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Flu ids & Electroly te s
* 7 yo is admitte d to the hospital f or an elec tive tonsillec tomy. The surge on has aske d the pe diatr ic ian to kee p the

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 18 -Pare nts state tha t as an infa nt he had a
de la ye d social smile and was not ve r y pla yful or interac tive.* Autism is a de velopmental disorder, usually a pr oble m
with socia l re lations. Also ha ve ve rbal and non-ver ba lc ommunication def ic its, unusual response s to the envir onment.*
Autism is usually pic ked up pr ior to 30 months of a ge .* Clinica l features inc lude fa ilure to attach as an infa nt,
de la ye d or absent social smile, fa ilure to antic ipate inte raction ( will not reac h out ar ms if you go to pic k the m up),
tend to ha ve repetitive move ments, ma y ha ve a needf or c onsta nc y, ma y ha ve ve rba l or non-ver bal c ommunication
de la y, outbur sts of ange r, ma y hur t se lf or others.* N o cure for autism, trea tme nt consists of small educationa l gr oups
and sometime s phar ma c othera py.* Pr ognosis f or autism is ver y poor.* Aspe rger is a subset of autism, mor e
c ommunicative , appear mor e awa re, do not ha ve the langua ge impa ir me ntsthat are see n in autis m. H owe ver, the y do
ha ve soc ia l impa ir ments, do ha ve repetitive be ha vior s, and ha ve obsessionintere sts and constanc y.* Rett s yndr ome
onl y see n in females, X-linked domina nt (ME CP 2 ge ne) , nor mal until 1yo the n losing mile stone sor de la y. Head stops
gr owing. Will ha ve ha nd-wr inging move ments and sighing sounds.
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Kap lan Vide os (2001) Ped iatric Poisonin g w ith Dr. Edu ardo Pino,
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Poison ing: Ove rview
* P oisoning is the 4th most c ommon cause of inj ur y in childr en. Occurs most of ten under 5 yo (when child can be ginto
walk) and in tee na ge ye ar s (intentional or non-accidenta l) .* An y poisoning ove r age 5 is most like ly non-acc ide nta l,
things like suic ide, child abuse , inte ntiona l injur y.* Maj or it y of poisonings oc cur in the home , most like l y in the home
and bathr oom.* Antic ipa tor y guida nce is invol ve d here , seatbe lts, car seats (star te d at birth) , poisons on higher
shelves.* Poisonings oc cur when nor ma l r outine is disr upte d, such a s fa mil y vaca tion, visiting gra ndma (house not
child pr oof ed) , after a home move.* Child sa fet y caps are good for pre vention of poisoning, but can gi ve you a fa lse
se nse of sec urit y. Just beca use ithas a child safe ty cap doe s not mea n the child cannot ge t into it. The child is like a
little burglar, if you give the me nough time the y can ge t into things. Idea is to slow the m down so the y ge t tired and do
some thing else, or so youca tch the m in the ac t.* All poisons should be pr oper ly labe led. If you mix a na me -bra nd
c leaner into a squirt bottle and the child drinks it, you ma y not know what is in the bottle if it is not labe led.* Kee p
poisons and me dications in a high up and loc ke d cabine t.* D o not ta ke medications in fr ont of childre n. This sends the
me ssa ge tha t if mom and da d do this the n the childshould too. Exa mple would be little girl presents with gynec oma stia
and sa ys she wa nts to be like mommy. Thisc hild took moms me nopa use hor mones (e str oge n) .* D ispose of me dications
pr ope rl y, do not flush medications unle ss a medica tion inser t specifica ll y sa ys to do so. If no instructions are gi ve n,
re move me dica tions fr om bottle and mix with undesira ble tra sh (e.g. use d coffee gr oundsor kitty litter ). This he lps
kee p anima ls (fa mil y pe t) and children out. Place in a lea k-pr oof ba g to pre ve nt lea ka ge .* Alwa ys ha ve the poison
c ontr ol number at home and in something that will be carrie d with the ba by, suc h as adiape r ba g. National U.S.
number is 1-800-222-1222.* Man y pha r mac ie s no longer carr y syr up of ipecac (emetic ) and there is contr over sy about
home activated charc oal.Best ma na ge me nt is call poison contr ol and go to ED .* If inha led poison, re move child
fr om sour ce. If absorbed thr ough skin, re move clothing and wash child off.* If poison swa llowed, go to hospital. If
poison in e ye, flush e ye with water f or 15 minutes.* In ED , mana ge ment is A BCs, quic k histor y (e.g. how man y pills,
how long ago), fast f oc used exa m.* Poisoning should be adde d to the differe ntia l anyti me the re is a bizarre
c onste llation of s ympt oms.* Pre ve ntion of absor ption can be done by causing e me sis (rare ly use d), gastric la va ge
(be st in fir st hours af ter ingestion) , activa te d charc oa l, cathar tics (polye th ylene gl yc ol or other medica tions to speed
GI transit) , diure sis ma yhe lp with certa in inge stions.* E me sis and ga str ic la va ge are not indica ted f or corr osive s as
the y will ma ke things wor se.* Do not do induce e mesis or do ga stric la va ge if pa tient ha s reduce d ga g ref le x or is
c omatose.* Ac tivated cha rc oa l has few c ontraindica tions, but do not give if you just ga ve an e me tic as activated
charc oal ma ya bsorb the emetic leading to poor e me sis. Aga in, e me tics rarel y use d.* Ac tivated cha rc oa l not he lpful f or
c yanide s, me ta ls, sodium, pota ssium, chlor ide, acids, ba ses.* Cathar tics decrea se GI absor ption. Ma gne sium catha rtic s
should not be use d if the pa tient is in re nal fa ilure .* D iure sis and dial ysis are options a s we ll. These are usually last
ditch me asures.

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 19 -* P oisoning trea tme nt of choice is
suppor tive . There are few antidotes, so mana ge ABCs.
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Poison ing: Ac etaminophen
* 3 yo was pla ying doc tor with his 4yo sister. The sister told him tha t he wa s ver y ill and pre scr ibe d 25ace ta minophen
tablet, whic h the child inge sted. Anothe r case would be a 16yo who ta ke s a bottle of ace ta minophe nta blets afte r an
argument with her pa rents or brea king up with he r boyf riend. He patotoxic it y is w or se in adults.E ither wa y, we nee d to
ma na ge the se patie nts.* Ace ta minophen is used f or analgesia and as an anti-p yr etic . Me tabolis m is ma inl y via live r.*
Toxic dose in childre n under 12yo is 150mg/kg. It is a lso impor tant to know if the pill is extended re lease.* Sta ge I
ace ta minophe n toxicity is fir st 24h after inge stion. Patie nts ha ve na usea, vomiting, diaphor esis. This is a good ti me to
ge t live r func tion te sts beca use the y will be nor mal.* Tests to ge t are liver enz yme s (tra nsa mina se s), c oa gula tion
studies, bilir ubin, and albumin.* If patie nt is a girl in childbear ing ye ar s (12 to 52) , ge t a pre gna nc y test.* Sta ge II
ace ta minophe n toxicity is 24-72h after inge stion and pa tient is starting to look better. Howe ve r, if the pa tient is going
to ha ve liver pr oble ms, this is when youll see changes in LFTs and c oa gula tion studie s.* Sta ge III aceta minophe n
toxic it y is 72-94h af ter inge stion and patie nt will ha ve a pea k in LFTs. This is when you know if the live r will recover
or ge t much w or se .* S ta ge IV aceta minophe n toxicity is whe n the live r is recover ing.* Majorit y of childre n will not
ha ve liver pr oble ms. H owe ver, aceta minophe n toxicity is the numbe r one cause of live r tra nsplant in the U.S.*
Ma na ge ment a lso include or der ing an aceta minophen le vel. Ace ta minophen te nds to pea k a t 4 hours.* Antidote
f or aceta minophen is N-ace tylc ysteine (N AC) . Rumac k nomogra m will he lp you dete r mine if we shouldgive N AC. If
le ve l is above the top line (pr obably he patotoxicity area), give N AC. If le ve l is between the twonomogra m line s, this
is possible he patotoxic it y, give N AC.* Wh y not gi ve to e ver ybod y? There is a loa ding dose the n a dose ever y 4 hour s
f or 16x (17 total doses). Genera ll ythe patie nt will not drink it because it ta stes lousy and smells like r otten e ggs so is
gi ve n via NG tube .* Once you star t giving N AC, it doe s not ma tter wha t the aceta minophen le vel is. The le vel will
dr op and will notc hange ma na ge me nt, kee p giving NAC regar dle ss of any subse que nt aceta minophe n le vel.* Activa te d
charc oal is give n not onl y f or aceta minophe n here but in case the patie nt took other poisons a long withthe medication
(e.g. anti-de pre ssa nt me dica tions) .* If ace ta minophe n le ve l grea ter than 150, trea t pa tient with NAC. N AC best gi ve n
within 8 hour s of inge stion.
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Poison ing: Alc oh ol
* A high sc hool se nior arr ive s in the E me rge nc y De partment (ED) immobilize d on a bac kboar d with cer vica l
spinec ollar in place after a mot or vehicle acc ide nt. The patie nt was a re strained pa ssenger in the bac ksea t pa ssenger-
side.He sta te s that he and the 5 other tee ns in the car had just left the par ty when the ir car wa s str uc k. The sme ll
of a lc ohol is present on physical exa m, the patie nt ha s no histor y of diabe tes, and no br oken liquor bottle s were
f oundin the car or tr unk at the scene of the acc ide nt.* O ne drink is 12oz can bee r, 9oz glass wine , 1.5oz liquor shot.*
Alc ohol use is seen of te n in adolesce nce. Ne gative ly affec ts the pa rachute ref lex. Joking aside , it not only can lea dto
ne gative outc omes f or the tee n but f or others (e .g. car acc ide nt) and their fa milie s.* Fac tor s affecting intoxica tion
inc lude a mount of a lc ohol ingested, patie nt size , if f ood was ingeste d, and tole rance .* Most sta tes cutoff intoxication
f or driving at BAC 0.08. T his is le gally dr unk regardle ss of effect due to tolerance .* Fr om 50-150mg/d L there are
affects, inc oordina tion, blurred vision, slowe d reac tion time. BAC 150-300 give svisual impa ir ment, sta gge ring, and
slurre d speec h. BAC 300-500 pr oduce s stupor, hypogl yce mia, c oma . BAC over 500 is fa tal if patie nt has no
tolerance .* Any coma tose pa tient should get an alc ohol le ve l dra wn as we ll as blood gluc ose.* N o specific antidote,
onl y suppor tive treatment. Trea t me tabolic acidosis and hypogl yce mia.* Michae lisMe nten kine tics for alc ohol is zer o
order. Zer o-order dr ugs are PEA: phe nytoin, ethanol, aspirin.* Zer o or der kinetic s mea ns alc ohol will be constantl y
me ta bolized a t the sa me ra te regardle ss of other fac tor s.* Ac tivated cha rc oa l can be use d in case the y got
into an ything else, but not too he lpf ul for the alc ohol.* If high blood a lc ohol le vels and nothing is helping,
the n consider dia lysis.
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Poison ing: Am phe tam ines
* The guidance c ounse lor refers a 10th gr ade stude nt to the school nurse for we ight loss, insomnia, and depre ssion.*
A mpheta mines are stimulants so why is he depressed? Be cause hes c oming down off of the m.

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 20 -* Pa tie nts will ha ve either acute
or chr onic toxic it y. Acute toxic it y includes diarr hea, pa lpita tions, arrh ythmia s,sync ope , hyper pyre xia, h yper reflexia,
se iz ures, c oma .* Chr onic toxicity due to tolerance includes re stle ssne ss, ner vousness, depre ssion, insomnia, suicidal
be ha vior,we ight loss. D ia gnosis is via ur ine drug scree n (UDS) will show a mpheta mine s f or up to 1-3 da ys
andme tha mpheta mine s f or up to 3-5 da ys.* For acute intoxication, supportive therap y with ABCs, cooling bla nke t
f or hyper ther mia, seda tion if nee ded.
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Poison ing: Salicylates
* A tee na ge gir l is br ought by a mbula nce to the E D because her mother f ound her ingesting a bottle of aspir in.
T he patie nt sta te s that she wants to die as her boyf riend has dec ided to date some one else .* Aspir in is use d as
an ana lge sic, anti- infla mma tor y, and antip yre tic. O the r me dica tions with sa lic ylate in the minc lude bismuth
subsa lic ylate (Pepto- Bismol) and me th yl sa lic yla te (O il of Wintergr een) .* Salic yla te s are the most common cause of
dr ug poisoning in the U nite d States.* 80yo woma n prese nts with increasing bac k pain. Has been ta king her pain
me dication more and mor e of ten ove r the past we e k. Daughter asks about her moms ringing in the ear. The pa tient
interr upts to sa y Its just cause I mge tting old. Think sa lic yla te poisoning, not just in pe diatric s.* Salic yla te s
unc ouple oxidative phosphor yla tion, increa se me ta bolic rate, cause tac hypnea , tac hycar dia, fe ve r, andhypogl yce mia.
You tr y to put these s ympt oms toge ther thinking, Well wha t infec tion can cause this? * By inhibiting the Kre b c yc le,
you ge t me ta bolic acidosis, liver da ma ge , c oa gulation pr oble ms (plate le ts).* Presenta tion inc lude s vomiting,
h ype rpnea, fe ve r, letha rgy, me ntal conf usion all see n in mild. Se izure s, c oma,respirator y colla pse seen in
se vere inge stions. H yper ve ntila tion, de hydration, bleeding disor de rs, seizure s, comaseen in chr onic inge stion. Tinnitus
is a common s ympt om assoc ia te d with salic yla te le vel over 30mg/dL.* Sta ge I sa lic ylate toxicity la st about 12h
and involve s re spira tor y alkalosis, losing pota ssiu m and bicarb in ur ine.T his sta ge is 12h in adolesce nt but ma y not
be see n in a small child. It can mimic diabe tic ke toac idosis.* Sta ge II salic yla te toxic it y inc ludes paradoxical
ac iduria , 12-24h af ter ingestion in adole scent. Ma y be sooner inthe younger child.* S ta ge III sa lic yla te toxic it y
inc ludes me ta bolic acidosis, deh ydr ation, hypoka le mia. This sta ge occ urs ear lier ininfant, later in adolescent (> 24h) .*
White count, he matocr it, and plate le ts ma y be increa sed. BUN and crea tinine ma y be increase d* Labs can be a ll ove r
the place , hyperna tre mia, h ypoka le mia or hyper ka le mia, h ype rglyc e mia or h ypogl yc e mia ,A BG showing me ta bolic
ac idosis with re spira tor y c ompe nsation in children. In adole scents, ABG will showre spira tor y a lka losis a lone.* Done
nomogr a m is f or salic yla te over dose. U sing the D one nomogra m, you can deter mine how ba d the ingestionca n be, e ve n
though there is no antidote .* Ferr ic chlor ide te st is done b y putting a dr op of ur ine on a ferr ic chlor ide table t. If tablet
cha nge s color, you knowthere is aspirin in the syste m. It doe s not sa y how muc h (qua ntita tive) , just qualitative .
O bta in blood aspir in le ve l.* Trea tme nt is supportive care. Gastr ic dec onta mination if soon enough. Ma y atte mpt to
cha nge ur ine pH by giving bicarbona te IV, whic h would spee d excretion of aspir in. Severe case s ma y need
he modial ysis.
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Poison ing: Carbon Monoxide
* 5 yo is br ought to the ED for a f irst time se izure. The child was pre viously we ll. The fathe r state s the child
wastr a ve ling across c ountr y in an older model ve hic le whe n the seiz ure occ urred. The child wa s slee ping on the car
of the vehic le and there were 5 adults smoking tobacc o a t the time of the e ve nt. On physical exa mina tion, the
childa ppear s dr ows y. Pulse oximetr y reads 97% .* Ca rbon monoxide is c olor less and odor le ss. Can c ome fr om a bad
car, not necessar il y a car running in a gara ge,man y times because the CO is see ping into the car.* CO will bind
he moglobin a 250x be tter than ox yge n does. Ox ygen is thus displace d giving carboxyhe moglobin.* CO
(car box yhe mogl obin) le ve l of 0-10% has no symptoms. S moker s te nd to ha ve 3-5% a s base line .* CO le vel of 12-20%
gi ve s hea dache s, 21-30% give s wor se hea dache s and irrita bilit y, 31-40% give s se vere headac he, lethargy, na usea ,
vomiting, 41-50% give s c onfusion, s ync ope, tac hyca rdia, tach ypnea, 51-60% can causec oma and seiz ures, 61-70%
gi ve s h yper te nsion and respira tor y fa ilure , > 70% is fa tal.* Che rr y red blood on A BG ma y be see n, cherr y red skin is
ver y rare ly see n.* PO2 will be lousy even with red blood.* Acidosis will be seen on ABG.* Treatment is to re move
pa tient fr om the source (re place ca r, f ix house) , put on 100% ox ygen, se vere case s ge th yper baric oxygen. Ha lf life
fr om 240mins to 47mins with 100% oxygen, down to 22mins with h ype rbar ic .

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 36 -* Ma y be as ymptomatic as infants.
More c ommon in adolesce nts, flu-like symptoms f or a c ouple of wee ks.* Ph ysica l exa m can be phar yngitis (ver y bad
looking) ,* Up to 1/3 of pa tients can ha ve a positive strep sc reen. If you treated this with pe nic illin and the y br oke out
in arash, think about mononuc le osis. This is an a mpicillin (and a moxicillin) rash and is prec ipitated about 99%
of the time, vir tuall y dia gnostic .* He lpful te st is C BC with at ypica l l ymphoc yte s (D owne y cells). Mono spot te st
(he ter ophile antibody te st) is for sc reening. With acute infection, heter ophile antibodies are pr oduced. Can a lso do
E BV titer s.* Treatment is suppor tive care, avoid penicillin dr ugs (ra sh reac tion) . Avoid contact sports f or 2-3 wee ks to
a llowf or the splee n to reduce in size ( pre ve nting rupture ).* DDx includes gr oup A be ta -he mol ytic strep infec tion.*
Can get high WBC c ount with thr omboc yt ope nia , consider leuke mia .
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Inf luenza Viru s & Aden ovirus
* 14yo is seen b y his physician beca use of fe ver, hea dache s, mya lgia, chills, and c ough.* E ver y ye ar this is a wa ve of
inf lue nza, vacc ines de veloped ba sed on yea rl y ser ot ypes.* Types A and B are responsible f or epide mic s.* O lder
childre n pre sent like adults with typica l symptoms. Ca n ge t flushed face, mya lgia, cough, chills for 2-5 da ys,na sal
c ongestion and cough f or 4-10 da ys. Younger childr en do not ge t as muc h influe nza, but can ha ve symptomsof
lar yngotr ache itis or br onc hiolitis or upper re spira tor y infections.* D ia gnosis fr om na sal swa b or nasophar ynge al
washe s, can do immunofluore scence antibodie s.* Treatment is a ma ntadine and rimanta dine f or serious case s, usually
dont help muc h. Antivirals ha ve to be give nve r y earl y and usua ll y b y the time the pa tient ge ts to the doc tor it is too
late .* Inf luenza treatment is generall y suppor tive.* Wor r y about sec ondar y bacte ria l infec tions. Hard to diffe rentiate
f lu fr om other vir al infec tions.* With ade novir us, pa tient pre se nts with fever, sore thr oat, and c onjunctivitis. U sua ll y
see n in the spr ing andsummer. Incubation per iod is 2-14 da ys. Can cause diarrhea . Look f or phar yngitis, rhinitis,
c onjunctivitis.* Can do nasa l washe s for ade novir us, can do fluore scence antibodie s and cultur es.* Adenovirus
treatment is suppor tive .
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Hand- Foot-Mou th Dise ase ( Coxsackie A Viru s)
* 2 yo prese nts with a ve sicular ra sh in his mouth and on his pa lms and sole s. Mother sta te s he has a rash on
his buttoc ks.* With ha nd, f oot, and mouth disea se there are bliste rs on an er ythe matous ba se . Le sions can be
an ywhere.* Incubation pe riod is 4-6 da ys, usually in the summer and fa ll. Epide mics in 3-ye ar c yc le s.* Dia gnosis is
c linical. Treatment is suppor tive care.
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Pin worm ( Ente robiasis)
* A mother br ings her 4 yo child to the ph ysic ia n with a histor y of ana l itc hing. The patie nt attends da yc are
and youa re told the childs fa vor ite ac tivity is pla ying in the sa ndbox.* Enter obiasis is the most common pa rasitic
infec tion of childre n in te mperate clima te s.* Wor ms are white and at most 1c m in length.* Will ha ve noc turna l anal
pr ur itus. Fe ma le w or ms go to anal re gion and la y eggs usuall y at night. Child willc onstantl y re -infec t beca use the
sc ratc h their butts ( stic k eggs) and touch their faces, eat with hands, etc .* D ia gnosis is via mic r osc opic exa mination
of w or ms or e ggs. Can get stool for ova and parasite s.* Ca n ge t e ggs from a ta pe te st (Scotc h ta pe test) . Put ta pe on
childs anus prior to be d, re move tape in the mor ninga nd exa mine under the mic r osc ope f or e ggs. Ma y be able to
see w or ms at night in anal ca vit y.* Complications include exc or iations fr om sc ratc hing.* Can ge t a massive
infe station with pinwor ms in the appe ndix.* Almost a ll pa rasites cause e osinophilia. E nter obia sis is an exce ption, no
e osinophilia.* Treatment is f or infecte d/symptomatic individuals but consider f or whole fa mil y. Ma y need to repeat
the treatment. Trea tme nt with be nzimidaz ole compounds like a lbe ndaz ole and mebendaz ole.
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Roundworm (Asc aris Lumbric oides)
* Inf ant is br ought in beca use the mothe r found a wor m in the dia per.* Ascar is is found in war m clima te s, tra nsmitte d
fr om soil when using human feces as a fertilizer. Feca l ora l.* La r va are inge sted and the y pe netrate the intestina l wa ll.
T he y w or k their wa y up to the lungs via c ircula tion. The n

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 37 -the y brea k thr ough lung tissues, whic h
can cause he moptysis and L ffle r (Loeffler) syndr ome. The wor ms the ncra wl up the trac he obr onc hia l tree, you c ough
to c lear thr oa t, and swa llow. N ow the adults are living in your GItrac t. The y do not attach, just swim a ga inst the
per istaltic wa ve.* Childre n can ha ve c olic ky abdominal pain, bile -sta ined e me sis, pulmonar y ascar iasis (c ough, blood-
sta ine dsputu m, pulmonar y eosinophilia).* Best test is stool studie s f or ova and pa rasites. Ma y see the wor m in
nose /mouth or in stool.* Treatment is a lbe ndaz ole , pyr antel pa moa te, or mebendaz ole . Pipe razine bette r for inte stina l
obstr uction.
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Scabie s (Sarcopte s Scabe ii)
* Mother brings her 3 childre n to you because the y ha ve a pr uritic ra sh that has bee n present for the past three months.
Mother sta te s tha t she and he r husba nd ha ve a simila r rash tha t be ga n in the webs of the f ingers. The itchinghas sprea d
to the wr ist, e lbows, and axilla .* Childre n ge t it more than adults. In older childre n and adults it doe s not affect the
face. U sua ll y nec k down.* Ha llmar k sign is itchine ss. Burr ow is charac ter istic le sion as mite digs unde r skin, more
c ommon in adults than inc hildren and can be see n in webs of f ingers or toe s.* Inf ants prese nt with ra sh, ma y
be vesicular like atopic der ma titis. Unlike l y tha t 3 kids ge t a topic de r ma titis at the sa me time, muc h mor e like ly tha t
the y ha ve sca bies.* Childre n ma y not ge t bur r ows but ge t vesic le s, pustules, scabs. Ma y affect face in infants.*
D ia gnosis is c linical, but can scra pe the skin at a vesicle and look under a micr osc ope for e ggs or mite.* Trea tme nt is
per methr in or linda ne cream, c ove r entire bod y and ke ep on over night. D o not use lindane in smallchildre n due to
ne ur otoxicit y. Childre n under 6mo can use a sulfur petr olatum mixtur e. Trea t ever ybod y. Ca n give antipr ur itic s too,
like antihista mines.* Complica tions inc lude impe tigo or sec ondar y skin infections due to persistent scra tc hing.
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Lice (Pe diculosis)
* The sc hool nur se refers a f irst gra de child to you because of nits in the childs hair.* Lice are obligate parasite s
of the huma n. The y affec t bod y, head, pubic.* Risk factors inc lude poor h ygiene. Pubic lice is transmitted via se xua l
c ontact. Bod y louse hardly ever y seen inchildre n. Most common is head lice .* Ha llmar k sign is itchiness. Exa m will
show nits (e ggs) and possibl y louse . The lice like to sta y c lose to the sca lp,so if a nit is at the end of long ha ir it
me ans you ve ha d it f or a ve r y long time , like l y an e mpt y e gg.* Treatment is per methr in f or body lice, a lso kills
the nits. Petr olatum (petr oleum jelly) for e yelashe s.
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Hookworm (Nec ator Americ anus, Ancy lostom a Duodenale)
* 5 yo prese nts with complaints of anore xia, abdomina l pain, and diarr hea. The pa tient is note d to ha ve a ye llow-gree n
pa llor.* H ookw or m is a he lminth and can cause blood loss. H ookwor m attac hes ( unlike ascar is) and can suc k blood, up
tohalf a mL per da y per or ga nism.* H ookwor ms f ound in war m moist soil especia ll y in rural area s. Wea r shoes. The y
pe netrate thr ough the skin or can be inge sted. E ve ntua ll y attac h to the wall of the intestine .* Can ha ve itch a t
pe netration site. Can ha ve abdominal pa in or fullness with la rge r infections, diarr hea.* Yellow-gr een pa llor is known
as chlor osis, gree n sic kness, this is h ypoc hr omic ane mia .* Be st te st is stool f or ova and parasites.* Treatment is
me be ndaz ole or a lbe ndaz ole .
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O ther P arasite s
* Recta l pr olapse seen in Trichuris tric hiura ( whipw or m) .* Cuta ne ous lar va mi gra ns ( CLM) see n in Anc ylostoma
braz iliense, cree ping eruption . Fr om dog stool. Ca usesinte nse itc hing but is self li miting.
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Fungal Infections: Topical
* Ne wborn is note d to ha ve white pla que s on his bucca l muc osa that are diffic ult to re move .* Oral thr ush is cause d by
candida . The y look like mil k curds, but will not scra pe off.* Ca ndidia sis can affec t the diaper area with er ythe ma and
sa te llite le sions.* Scraping candida plaques with KOH prep will show hyphae on mic r osc ope .* Candida oc cur s in
infa nts beca use the y like a dar k, wa r m, moist place ( mouth, diaper area) . Ca n also occ ur in the

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 38 -immunoc ompr omise d and in pa tients
ta king ster oids.* Ha ve patie nt r inse their mouth and spit or swallow to help pre ve nt or al thrush.* Candidiasis can be
pa inful. D ia gnosis is c linical but can do KOH prep.* Topical nystatin use d, swish and swa llow . Ora l fluc onaz ole can
be used. Topical nystatin for diaper area.* School nur se refer s a stude nt to you beca use of an annular rash with sca ling
and central c learing. O ther me mbersof the childs fa mily ha ve simila r lesions. This is tinea c or por is.* Tinea corporis
affects the skin but exc ludes the pa lms, sole s, and gr oin.* Tinea cause b y Tric hophyton rubrum, Trichoph yt on
tonsurans, Tric hophyt on inter digita le and/or Tric hoph yton me nta gr oph ytes, Mic r ospor um canis, and Epider moph yton
f locc osu m.* Usually a rash, not a lot of itching. Annular lesion, ring shape d, calle d r ing wor m but not a wor m.*
D ia gnosis is c linical, can do KOH prep. Tinea c or por is usua ll y does not fluore sce with Wood la mp, mic r osporumwill
f luoresce on Wood la mp.* Treatment is topica l.* DDx is pit yr ia sis r osea (he rald patch on tr unk), seborrhe ic
der matitis, psor ia sis, gra nuloma annulare .* Child is br ought to the c linic by his mother because he has patc hes of hair
loss a s we ll as knots in the bac k of thesca lp. This is tinea capitus.* Tinea capitus is mor e commonly seen in H ispanics
and Afr ica n Ame ricans.* Tinea capitus caused b y tr ic hophyton and micr ospor um. Micr ospor um fluor esce s.* Usually
br ought in because of ha ir loss, alopec ia. Ma y be blac k dot tinea , blac k dot ha ir loss, where the hair is br oke n off
r ight a t the scalp so it looks like blac k dots.* Ke rion is a boggy gra nulomatous reac tion to the tinea capitus, not
a sec onda r y infec tion, treat with ster oids.* Treatment is with or al gr ise ofulvin. Treat ringwor m topicall y, but if on
sca lp must trea t ora ll y.
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Fungal Infections: System ic
 * 14yo living in the southwe st pre sents with fe ver, hea dache , ma laise, che st pain, a rash, and tibia l
er ythe ma nodosum.* San Joaquin Valle y fe ver is caused b y Coc cidioide s immitis, f ound in the soil in the southwest
( AZ, TX).* Inhala tion is the mode of tra nsmission, inc uba tion is 10-16 da ys.* Blood gr oup type B are a t highe r risk
f or disse mination.* U sua ll y prese nts with flu-like symptoms, che st pain, and mac ulopa pular ra sh. Er ythe ma nodosu m
can be see n.* Lung exa m is usuall y clear but CX R is abnor mal, pleural effusions.* D ia gnosis is via sputum
exa mina tion with culture.* Primar y disea se is self-limiting, no nee d to trea t. Treat with amphoter icin B if se ve re
disease . Treat c occ idioide sme ningitis with f luc onaz ole.* DDx includes T B. Complica tions inc lude meningitis.* 10yo
who ha d been exploring caves (spe lunking) with his frie nds pre sents to the physician with flu-like s ympt oms.
T hink histopla smosis.* H istoplasmosis can cause acute pulmonar y infec tion, chr onic pulmonar y infection,
disse mina te d disea se.* Transmitted fr om soil with nitrates that is hea vil y c onta mina te d with bir d or ba t dr oppings.*
L ook for a histor y of being in ca ve s or under /ar ound br idges (e.g. star ling-blac kbird r oosts) .* Common in Mississippi,
Missouri, Ohio r ive r va lle ys.* Inhalation transmission. Maj or ity ha ve f lu-like s ymptoms. Chr onic disease
is oppor tunistic. D isse minated disease seen in immunoc ompr omised and infa nts ( immuno-na ve ).*
Fe ve r, sple nome ga l y, thr omboc ytopenia with syste mic disease.* In non-H IV pa tients who are immunoc ompr omised you
can see fe ve rs, we ight loss, inter stitial pulmonar y disease,ulcer s, me ningitis.* In H IV positive patie nts, disse minated
disease is fe ve r, we ight loss, skin rashe s, lympha denopa th y, me ningitis.* Ac ute pulmona r y disease will ha ve ne ga tive
sputum cultur es. Ca n do skin te sting, similar to T B, f or histopla sma .* Radioimmunoa ssa y is the be st testing for
disse mina te d disea se.* Treatment if mild is suppor tive, self -limited. Use a mphote ricin B f or disse minate d disea se .
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Kap lan Vide os (2001) Ped iatric I mmu nology w ith Dr. Edu ardo Pino,
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Immunology: Allergic Rhinitis
* 8 yo pa tient c ome s to the physician beca use of a runn y nose, sneezing, and mouth brea thing. The mother states
tha tthe pa tient ge ts the symptoms ever y spr ing whe n the lilac s start to bloom. E xa m is positive f or allergic shiners,
c lear

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 51 -* O lde r children will ha ve shortne ss
of brea th, can ha ve dyspnea on exer tion.* Orthopnea, ede ma, noctur nal dyspnea are unc ommon in children. So not the
sa me as with adults.* Physical exa m will show tach ycar dia ( know nor ma l rate s f or kids) .* Height and weight are
a lwa ys he lpf ul. Se vere c ongenita l hear t disea se kids are usuall y small, ma y ha ve FT T.* On exa m, alwa ys palpa te
upper and lowe r extre mity pulses. Should get upper and lower extre mit y BP s. A dela y in pulses should ma ke
you suspicious f or coarctation.* Exa m ma y be helpf ul b y de monstra ting crac kles on auscultation. This is indicative of
pulmonar y ede ma and left-sided hear t failure. He patome gal y is indica tive of r ight-sided hear t failure.* With
c ongenita l hear t disea se , can ge t c yanosis and clubbing beca use of persistent chr onic hyp oxia.* Mur murs can
be hear d. Gra de I mur mur is diffic ult to hear, the cardiologist mur mur. Gra de II is faint but can behear d with
bac kgr ound r oom noise. Gra de III is louder tha n II but no associated thr ill, ma y be heard when ba by iscr ying for
exa mple . Gr ade IV-V I ha s an assoc ia ted thr ill, feels like a ca t purr ing if you ve fe lt tha t. Gra de V ha sthr ill tha t can be
hear d if ste thosc ope is touching chest wall at an angle . Gra de VI is thr ill hea rd with stethosc ope justa bove (not
touching) the chest wall.* D ia gnostic tests include che st x-ra ys ( size of heart, lung fie ld f low, rib notc hing, position
of a or ta and pulmonar ytrunk), electr ocar diogr a m (right axis de viation, left ve ntricular h ype rtr oph y, right ventric ular
h ype rtr oph y, bundle bra nch bloc ks), MRI (double a or tic arch) , cardiac cathe ter ization, angiogra ph y, exerc ise te sting.*
T he test of choice f or most of the se c ongenita l defec ts is an echocardiogra m.* D iffe rential c lubbing, toe ha s clubbing
but the ha nd does not, think longstanding pate nt duc tus arte riosus.* If you see gr oss malf or ma tion of the upper
extre mitie s, think about associate d cardiac defec ts ( AS D, VS D).* In uter o, oxygenation occ ur s at the placenta. Right
side of the heart doe s a lot of pumping. Lungs are a high-re sistance low -f low f ield. Communication be twee n atria via
f or a me n ova le and between pulmonar y arte r y and aortica rch via duc tus ar teriosus.* Whe n c or d is cla mpe d and ba by
ta ke s a brea th, we be gin to c onver t to adult c irculation. Fora men ova le starts toclose, ductus arter iosus star ts to close
as re sponse to oxygen te nsion (ta kes a c ouple of da ys) .* In certa in heart de fects, we can kee p the duc tus ope n to our
advanta ge. S ymptoms ma y not appear until the ductus be gins to close . These are ducta l de pendent le sions.
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Cardiovascular: Innocen t Mu rmurs
* 5 yo ma le is see n for r outine ph ysica l exa mina tion. Parents voice no c oncer ns. Weight and he ight are at 75% .
Vitalsigns are nor ma l. Physical exa m is re mar ka ble for a soft musica l gr ade II/V I mur mur best hear d at the lef t
lower ster nal bor der.* I mportant note s here are that the kid ma de it to age 5, so pr oba bl y not a bad mur mur. Weight
and height are fine,vita l signs are nor ma l. S o pr oba bl y an innocent mur mur (e .g. func tional mur mur, f low mur mur ).*
Pa thoph ysiology is simply hearing flow thr ough a nor ma l hea rt, no holes, no va lvular disea se .* Most innocent
mur mur s hear d between a ge s 2 and 7 yea rs.* More tha n 30% of childr en ma y ha ve an innoce nt mur mur heard a t some
point in their live s.* Innoc ent mur mur s usua ll y hear d on r outine physical exa m, ma ybe mor e like ly when there
is increa sed car diac output suc h as with fe ve r, infec tion, ne r vous.* Rare ly can you sa y a lwa ys or ne ver in medicine.
But, an innoce nt mur mur is ne ver in diastole . There are pathologic mur mur s in systole. An y diastolic mur mur
is pa thologic .* Innoc ent mur mur s are not grea ter than II/V I gra de.* Typical sound is sof t vibrator y musical mur mur.
Hear d best at left lowe r to mid-sterna l border.* Wha t is the ne xt ste p? Answe r is reassura nce. D o not do an echo or
an y other te sts. Rea ssure pa rents.* DD x include s pulmonar y flow mur mur (f or m of innoc ent flow mur mur, highe r
pitche d, blowing, hear d in ear lys ystole, heard a t lef t paraste rna l bor der) , ve nous hum (hea rd in nec k or anter ior chest,
s ystolic and diastolic , goesa wa y when you c ompress a jugular ve in).
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Cardiovascular: Congen ital He art D ise ase
* Congenita l hear t disea se oc curs in about 0.5-0.8 per 100 live births. Lesions occ ur earl y on about 15-80 da ys
of gestation. Dia gnosis is usually made earl y on in life . Over ha lf of pa tients dia gnose d b y 1mo of a ge .* Mur mur s ma y
not be heard initia ll y. Mur murs are onl y hear d whe n the re is flow thr ough a defec t. The onl y timethe re is flow thr ough
a defect is if there is a differe nt in pre ssure s. Whe n ba bies are born, the ir pulmona r y vascular re sistance tends to be
high still. So you ma y not hear a mur mur. Whe n the resista nce dr ops so tha t flow cha nge s,then you ll hear d mur murs.*
S o it isnt that an ASD was missed until 3-4mo of a ge or tha t the bab y de ve loped the AS D at that point. The ba by

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 52 -was bor n with the defect but it wa s not
hear d until 3-4mo because that is whe n the pressures changed enough f or thef low to be heard acr oss the defect.* 30%
of pa tients with c ongenita l hear t disease ha ve other ana tomical abnor ma lities (e.g. limbs, TE fistula).* Conge nital
hear t defec ts are most commonl y idiopathic. O the r cause s include c ongenita l rubella , feta l alc oholsyndr ome, ma terna l
lithiu m use , Noonan s yndr ome , D own s yndr ome, and so on.* Mur mur s are split into stenotic and shunting. S tenotic
divided into a or tic stenosis, pulmonic ste nosis, coarctationof the aorta. Shunting divide d into right- to-lef t (c yanotic) ,
left-to- right (ac ya notic ), mixing-le sions.* C yanotic-lesions are the 5Ts and a P: Tricuspid a tresia , Tetralogy of Fallot,
Transposition of the gr eat ve ssels,Trunc us arter iosus ( mixing lesion) , Tota l anomalous pulmonar y venous re tur n
( ma ybe), Pulmonic stenosis.* For c ya notic hea rt disease , think the 5 Ts and 1 P. Could toss in h ypopla stic left heart.
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Cardiovascular: Ven tricu lar Septal Defec t ( VSD)
* 3mo child prese nts with poor feeding, poor we ight gain, and tach ypnea. Ph ysica l exa m reveals a
har sh pansystolic3/6 mur mur at the lef t lower ster nal bor der. Hepa tome ga l y is f ound.* Pans ystolic implie s you will
not hear S1 and S2 well. S ounds like gr ind pause gr ind pause grind pause.* VSD is the most c ommon conge nital heart
defec t. One of the reasons that it is so common is beca use it is f ound inassoc ia tion with other hear t defec ts.* VSD is
a lef t-to-right shunt, ac yanotic shunt. LV beats, pushing some blood out a or ta and some into the RV.* Prese nta tion
de pends on the size of the shunt. Ma y not hea r a lot of mur mur initia ll y when the pulmonar y va sc ular resista nce is
high and there is not a lot of shunting. Large de fects allow for a lot of shunting.* If you ha ve persistent high flow
fr om left-to- right, there is more flow to the lungs. The pulmonar y va sc ula ture willhyper tr oph y to he lp limit the
a mount of flow to the lungs. This will cause re modeling, eventually pulmonar yva scular resistance increase and
pulmonar y h yper te nsion. When pulmonar y h ype rte nsion gets high enough, theshunt will change right- to-lef t, turning
the ac yanotic disea se to a c yanotic disea se (Eise nme nge r complex) .* S mall defec ts are usua ll y asymptoma tic .* VS D
mur mur is usuall y har sh holos ystolic/pa ns ystolic mur mur.* Large defec ts can lead to hear t failure, ma nifeste d by
d yspnea, poor feeding, poor we ight gain, tac hypnea ,sweating while the y feed.* CXR for VS D will show an enlarge d
hear t. If sma ll defec t, w ont see muc h.* Elec tr ocar diogra m will show lef t ve ntr icular h ype rtr ophy (LVH). Large
defec ts will show bive ntricular h ype rtr oph y (LVH + RVH) .* Be st te st is echocar diogr a m. Echo will show defec t( s) .*
S mall defec ts will resolve on their own, usua ll y in 1-2 ye ar s.* Treatment inc ludes antibiotic pr oph ylaxis f or dental or
surgical pr oce dure s to pre vent endocarditis.* Medical ma na ge me nt is to ma na ge heart failure , diure tics, digitalis,
e ve ntua ll y surgical c losur e +/- patc h.* Eise nme nger s yndr ome ge nera ll y cannot be c or recte d once there is r ight-to- left
shunting. Definitive surgica ltrea tme nt is a hear t-lung tra nspla nt. 10 yea r post- transpla nt sur vival rate is ar ound 25%.
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Cardiovascular: Atrial Septal Defect ( ASD)
* In ASD, most blood goe s fr om LA to LV but some ge ts into RA due to lower pre ssure .* ASD oc curs an ywhere along
the atr ia l se ptum. Most c ommon is ostium sec undum defec t. Most asymptoma tic .* Ca n ha ve some exercise intolera nce
as the y ge t older.* Mur mur is systolic, wide f ixe d-split of S2.* N or ma lly you ge t an S2 split with a deep breath. Whe n
you brea th in you ge t a decrease in intra thoracic pressureand a little bit of extra blood ge ts suc ke d from syste mic
venous c ircula tion into the RA. S o there is a little bit more blood to the RV to pulmonar y tr unk, me aning it ta kes a
little bit longe r f or the pulmonar y va lve to close .* With AS D, you hear the mur mur in s ystole because there is
increa sed pulmona r y blood f low.* Fixe d S2 in ASD oc curs beca use there is a lwa ys mor e blood re tur ning to the RA
(fr om the defec t c oming thr oughLA), mor e blood to RV, and mor e blood out pulmonar y tr unk thus la ter closure of the
pulmonic valve.* Most pa tients do not ha ve pr oble ms, some exercise intolera nce later in lif e.* CX R can show enla rge d
RA and enlarged RV, depe nding on how big the shunt it.* E CG c ould show RA enlarge me nt and RA conduc tion dela y.*
T he best te st is an echocar diogr a m.* Treatment is surgic al c or rection. Can be done transva sc ular (fe mor al) or ope n
hear t with patch closure .* In genera l, ASDs do not c lose on their own.* Not a high flow le sion so no maj or risk of
endocar ditis, pr ophylaxis not reall y nee ded.

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 53 -* Complica tions include heart failure
(3rd deca de of life) , dysrh ythmias, valvular insuffic ie nc y.* Most childre n are f ixe d by about 4-5 yea rs of age so the y
do not ha ve to miss school.
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Cardiovascular: Patent Ductu s Arteriosu s (PD A)
* In PD A, blood goe s out aorta the n thr ough duc tus bac k into the lungs, left-to- right shunt.* PD A mor e common in
girls. Associated with conge nital rube lla. Common in pre ma ture infants.* Pre ma ture infa nts tend to re spond better
to me dical ma na ge me nt than ter m infa nts with PDA.* PDA c ould be he lpf ul with other defects to he lp b ypa ss flow. RV
outflow tract obstr uction w ould nor ma lly befa tal, but a PDA w ould a llow f or mixing of blood.* S ma ll PDAs usually
do not cause pr oble ms. La rge PDAs can cause pr oble ms simila r to large VSD .* With PD A, can ha ve wide pulse
pre ssure . Instead of 120/80, c ould get 120/40.* Physical exa m will show bounding pulse s on the pa lms and sole s
of the f oot in pre mies.* Some ti me s there is a hea ve .* Typical mur mur is a mac hiner y or to- and-fr o mur mur. Hear d
in s ystole and diastole . S ome times in infa nts you willonly hear a s ystolic ejec tion mur mur.* CXR shows pr omine nt
pulmonar y arte r y due to increa se d flow, increased pulmonar y va scular mar kings due toincreased f low, heart size ma y
be nor ma l or slightl y enla rge d.* Best test is echocardiogra m.* S ome PDAs can close sponta ne ously in pre ma ture
ba bies. The y re spond to indome thac in.* Be st medication to close the PDA is indome thac in. D oe s not wor k as well with
ter m ba bies.* With ter m ba bies, do surgical closure (liga tion) with a r ib incision f or entr y, so not open hear t surger y.
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Cardiovascular: En doc ardial Cu shion Defec ts
* E ndocardia l cushion defect is a c ommon AV cana l, an ASD and VSD . E ve n thr ough lef t-to-right, the y
bec ome c yanotic because of increased flow to the lungs, pulmonar y hypertension, then E ise nme nge r syndr ome.*
E ndocardia l cushions are where the valve s c ome fr om and the septum. So AS D, VSD, and clef t mitr al va lve .*
E ndocardia l cushion defects more c ommon in D own s yndr ome, tr isomy 21. Since there is a huge flow to the lungs,
the se patie nts will go into heart failure ver y easil y ( 1-3mo of age). N ow youre stuc k, you ha ve to wait f or thechild to
be big enough so the surge r y is fea sible, but ma ny ti me s the kid cant ge t big enough due to illne ss.* Pa tie nts will
ha ve heart failure early in infa nc y, hepa tome ga ly indicative of r ight sided fa ilure , and FT T.* CXR shows increase d
pulmonar y blood f low. Will ha ve pulmona r y h yper te nsion so can de ve lop E ise nme nger.* E xa m can show a thr ill. S2
will be wide ly split because of increase d pulmonar y blood flow. D iastolic mur mur canocc ur due to mitral va lve
insufficienc y.* Be st te st is echocar diogr a m. CXR will show enlarged hea rt. ECG will show LAD, biventr ic ula r
h ype rtr oph y, RVc onduction de la y. Color f low Doppler with echo will show blood shunting at both le vels, atr ium and
ventric le s.* Treatment is me dical ma na ge me nt of hear t failure until surger y. Surge r y is pa tching AS D and VS D
the n fixing thec lef t mitr al va lve if possible . Technica ll y that is easy to do, the pr oble m is post-operative l y beca use
now you ha veno pop-off valve, right side of the heart is not use to pumping against high pre ssure s, if high pulmonar y
h ype rte nsionthe r ight side of the hear t can fail.* Just beca use you hea r a mur mur doesnt me an jump to the echo. Do a
CXR and E CG f irst, the n echo.* Fetal echocar diogra ph y is not a scree ning test. It is for dia gnosis.
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Cardiovascular: Coarctation Of The Aorta
* Coarc ta tion of the a or ta is a constriction of the a or ta that can occ ur at an y point but most commonly (98%)
occ urs just be low the or igin of the lef t subc la via n. Majorit y ha ve some ducta l-type tissue.* 9da y old is br ought to the
ED beca use of diffic ulty feeding and ha ving pr oble ms brea thing. Physical exa m re vea lsBP of 150/100 in ar m, bab y is
tach ypneic , retrac ting, with poor capillar y ref ill.* Ne xt test is lower limb pre ssure s. Lower extre mitie s show BP
50/30. Bab y ha s c oarc ta tion until pr oven other wise .* Wha t is the ne xt ste p in ma na ge me nt? Give pr osta gla ndin to kee p
the ductus ope n, The c oarc ta tion has ducta ltissue in it and ke eping it open will he lp ge t f or ward f low to the rest of the
bod y.* Coa rcta tion mor e common in boys, increa sed inc ide nce in Turne r syndr ome (with bic uspid a or tic valve a lso).*
Coarc ta tion can be missed in the ne wborn because the duc tus is still open dur ing exa m in the nurser y. When theductus
c loses is when you get pr oble ms, which is why you re-open the ductus until you can f ix it.* Patie nts can pre sents with
hear t fa ilure , me tabolic acidosis, and lower bod y h ypoper fusion, hyp ote nsion in thelower extre mitie s, h ype rte nsion in
the upper extre mitie s, differe nces in blood pre ssure be twee n ar ms possible( pr obably coarctation ar ound the lef t
subc la via n) , ma y hea r a mur mur.

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 76 -* P seudo-seizure s can occ ur with or
without a true se iz ure disor der. EEG will be nor ma l.* M yoc lonic epile ps y c onsists of br ief c ontractions and loss
of body tone , tend to fall/slump for war d.* Benign myoc lonus of infanc y is whe n the ba by jer ks as it is fa lling aslee p.
T his goe s a wa y by 2 yo, no issue s.
Partial Seizu re s
* Type s are simple pa rtia l se izure s, complex par tial seiz ure s, and benign f oca l se izures.* Simple pa rtia l se izure s are
about 10-20 sec onds in dura tion. Can be c onfuse d with motor tics but cannot be suppre ssed like a motor tic .* Comple x
par tial seizure s are associate d with auras.* EEG in complex par tial seizure shows te mpor al spikes.* Benign
f oca l (r ola ndic) se iz ures can be associated with hallucina tions (e.g auditor y). Re solve by adole sce nce.
Cere bral Palsy ( CP)
* Cerebra l pa ls y is a disor der of impa ire d mot or functioning and posture.* Onset is ear ly, bef or e birth, a t bir th,
or during fir st yea r of life . This is a non-pr ogr essive disorder.* Maj or it y of patie nts ha ve r igidity and spastic it y.
Subtle f inding c ould be a heal-c or d contrac ture with ra ised f oot.* 1.5-5 per 1000 live bir ths is the incidence
of cerebral pa ls y. No specific e tiology.* Risk fac tor s are intra ute rine bleeding, infec tions, conge nital ma lf or mations,
intracra nia l he mor rha ges, ne onatalhypogl yce mia, ker nicte rus, bir th a sphyxia ( low AP GAR is an unc ommon cause) .*
CP characterize d by the motor de fic its, such as spastic diple gia , spastic qua driple gia , spa stic he miple gia , etc .* Most
f or ms of CP are h ype rtonic , but extrap yra mida l f or m is charac terized b y hypot onia.* Patients ma y ha ve h yper tonicity
and spa sticity suc h that the y cannot c ontr ol their own secretions. The y cannotc oor dinate the motor move ments, so
higher r isk of aspiration and GE reflux.* N o dia gnostic te st. D ia gnosis is c linical.* G oa l of thera py is to he lp pa tients
achie ve ma ximum pote ntia l. Patients ma y ha ve seizure disorder s, me ntalreta rda tion, and de ve lop me ntal dela y.
H owe ve r, patie nts ma y be mista ke nl y thought to be me ntally retar ded beca usethe y ha ve speech pr oble ms due to the
r igidit y; there are pe ople in c olle ge with cerebra l pa ls y.* Trea tme nt can involve musc le rela xants, physical thera py,
anticholinergics to dr y secre tions, se izure treatments,or thotics or bracing to pre vent c ontr actions, te ndon c or d
re lease s, heal c or d relea se surger y, club f oot surge r y.
 Progressive Men tal Retardation
* In CP, the insult has a lread y oc curred and thus it is a non-pr ogre ssive disor der.* Type s of pr ogre ssive are acquired
and inher ited me ta bolic.* Acquired inc ludes me ningitis, ver y fre que nt seiz ures with h ypoxia , chr onic drug over dose ,
lead poisoning, vita mindef ic ienc ie s, infec tions, ps ychosoc ia l depr iva tion.* Here ditar y include s de genera tive disease s
with f oca l manife stations such as Friedre ic h Ataxia.* Fr ie dre ich Ata xia is an a lpha toc opher ol transfer pr otein defec t,
vita min E deficie nc y, autosomal recessive,generally ata xia pre se nts bef ore 10 yo, charac ter ized b y explosive d ysa rthr ic
speech and nysta gmus.* Friedre ic h Ataxia exa m ma y show ata xia , absent deep tendon refle xes, lowe r extre mities mor e
involved, loss of vibra tion and position sense, high arche d f ood (pe s ca vus) , ha mmer toe s, kyphosc oliosis.* Dia gnosis
is made clinica ll y. There is no treatment.* Lesch-N yhan is a ssocia te d with self mutilation, biting at their lips
and finger s. X-linke d disor der of pur ine metabolis m, accumula te ur ic acid.* Le sc h-N yha n kids will be alright a t
bir th the n ha ve a dela y in mot or de ve lopme nt. Ca n ha ve chore oa the tosis move ments, spa sticit y, ps ychomot or
re tarda tion, gouty arthritis due to ur ic acid. Gout is really the onl y thing youc an treat so give the se patie nts
a llopurinol.* D ia gnosis ma de with d ystonia and self-mutila tion. Def initive dia gnosis is ana lyz ing for hypoxanthine -
guanine phosphoribos yltr ansfera se (HGP RT).* Treatment is allopur inol f or rena l c omplications, beha vior modif ication
( good luc k) , restra ints, possibly re movethe teeth to pre ve nt recurre nt mutila tion, tr y to reduce anxiet y and stabilize
mood.* Wilson disease (he patolenticular de gene ration) is a copper metabolism pr oble m, Ke yser-Fle ishe r rings in the
e ye s,autosomal recessive, basa l ganglia de ge neration, increase d copper de posits in brain, liver, kidne y, c or nea, and
lowser um c opper. Fa mily histor y like l y pre sent.* Wilson disease usually has live r pr oble ms f irst bef ore the brain.
Pa tie nts ma y ha ve tre mor s, dr ooling, fixed smile.Childr en will pre sent with liver dysfunction and hepa tome ga l y. L ook
f or Ke yse r-Fle isher r ings.* Testing involves ceruloplasmin le vels and finding low ser um copper, then f inding
increa sed urine copper afte r pe nicilla mine is given.* Ima ging is CT of the bra in and/or MRI of the brain.* Trea tme nt
is to reduce copper inta ke and increa se secre tion of copper b y giving penic illa mine (che la tion).

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 77 -* Fulmina nt live r involve me nt can
pr ogr ess to cirr hosis, ma y need live r tra nsplant.* Me tachr oma tic leukod ystr ophy (MLD ) is autosoma l recessive,
def ic ienc y in ar ylsulfatase A activit y, can assa y viachorionic villus sa mpling to look f or ar ylsulfata se A def icienc y
pre -na tal.* MLD test is metachr oma tic sta ining f ound on cre syl violet.* MLD t ype s are la te infa ntile, juvenile, and
adult. La te infa ntile t ype ha s gait distur bance and hypot onia. Juve nileusua ll y a t 5-10yo, pe rsona lit y cha nge s, doing
w or se in sc hool.* Kra bbe disease (globoid ce ll leukod ystr ophy) is a disor de r of mye lin destr uction, autosoma l
rece ssive , def icienc yin galactocere br osida se, s ympt oms appear earl y in fir st few months of life.* Kr abbe disea se kids
are ve r y irr itable ( crabby ), inc onsolable , feeding issues, seizure s, opisthot onus posturing.* Adr ena l le ukodystr oph y
is x-linke d rece ssive , s ymptoms at 5-15 yo, worsening sc hool pe rf or mance, be ha vior pr oble ms, gait abnor ma lities.*
Muc opol ysacc har idosis (Hunter, Hurle r, San Filippo), Hur ler and San Filippo are autosoma l recessive . H unter isX -
linked recessive. Look f or c oar se facie s, upturne d/a nte ver ted nose, gener ous e ye br ows, shor t br oad nec k,u mbilica l
her nia, viscer ome ga l y, shor t stubb y f ingers, shor t sta ture , kyphosc oliosis.* Muc opol ysacc har idosis can ha ve
cardiomyopathy and me ntal retar dation.* Muc opolysa cchar idosis is a c ongenita l disease of gr a y- matter with
viscer ome ga l y.* Pediatr ic ian exa mine s a 5yo gir l with ha nd wringing move me nt and autistic beha vior. This is Rett
s yndr ome.* Rett s yndr ome f ound in gir ls, usually onse t is 1yo whe n the y star t losing mile stone s. There is
an acquiredmicr oce pha l y. Look f or pur posef ul move ment, specifically hand wr inging. Autistic beha vior with socia l
withdrawal.* No dia gnostic test f or Rett although a mmonia le ve ls can be high.* Treatme nt is supportive care f or Rett,
gi ve anti-convulsants for se iz ures.* Rett kids de velop genera lized tonic -clonic seizure s and die in adole scence to thir d
deca de usuall y fr om a sudde ncardiac arr hythmia.* Tay Sachs is a gangliosidosis, assoc ia te d with cere bral de gene ration
sec ondar y to l ysos oma l stor a ge of a ga nglioside , autosoma l recessive, c ommon in Ashke naz i Je ws (1 in 30 carr ier
ra te).* Tay Sachs babie s are fine until about 6mo, then the y sta rt missing milestones. De ve lop seizure s,
h ypotonia , blindness. Retinal exa m shows cherr y-red spot in the ma cula . No trea tme nt.
Hy droceph alu s
* 2mo infa nt is note d to ha ve a hea d circ umf erence grea ter tha n the 95% ile. At birth the child wa s 50%ile f or
hea dcircumfere nce and ha s gr own since, while his bod y ha d not gr own a s we ll. E xa m re veals a large f ontane lle, wide -
spaced sutur es, dila ted scalp ve ins, and cracked pot sound on hea d percussion (Mace we n sign, h ydr ocephalus).*
H ydr ocephalus can oc cur a s a re sult of impa ire d circ ula tion and absor ption of the CSF, or b y increase d pr oductionof
CSF. Types are obstruc tive ( non-c ommunica ting) and non-obstr uctive (c ommunica ting) .* Obstruc tive h ydr oce pha lus is
usua ll y cause d by an obstr uction in the ve ntr ic ular s yste m. Usually an abnor ma lity of the aque duc t and a le sion in the
f ourth ventricle .* N on-obstruc tive usua ll y results sec ondar y to me ningitis, subarachnoid blee d, loss of subarachnoid
villi.* Pre sentation de pends on a ge and how quic kly the f luid accumulate s. S low mi ght pre se nt as a kid with a big
hea d,where fa st mi ght pre sent with vomiting and papillede ma.* Infa nts will ha ve accelera ted hea d gr owth, wide
open bulging fonte nelle s, dilated sca lp ve ins, Sunse t sign where ba bys e ye s are alwa ys looking down due to increase d
ICP.* Older childre n ma y ha ve irrita bilit y, le tha rgy, poor appe tite , vomiting, headac hes, can ha ve Mace wen sign.* CT
sca n would show grea tl y enla rge d ve ntr ic les, at the expe nse of brain.* Ar nold- Chiar i ma lf or ma tion should
be suspec ted in a kid with fore -shortene d oc ciput.* Ar nold-Chiar i type I is not assoc ia ted with h ydr ocephalus and
s ympt oms oc cur at adole scence , obstruc tion atca uda l por tion of the f or th ve ntricle . Rec urre nt hea dache s, nec k pa in.*
Arnold-Chiari type II, see n with spina l d ysr aphisms ( spina bif ida), pr ogr essive h ydr oce pha lus, mye l omeningoce le.*
Da nd y-Walke r malf or ma tion is a c ystic expa nsion of the f ourth ve ntr ic le, f or m of hydr oc ephalus. Will ha ve
a pr omine nt oc ciput ( ve rsus shor te ned occ iput in Ar nold- Chiar i) . CT shows h ydr oce pha lus with huge four th
ventric le .* Can do an ultra sound in infants place d on f ontane lle. But best te st is CT sca n.* Therap y depe nds on
cause of hydr oc ephalus.* Medica l trea tme nt include s acetaz ola mide and fur ose mide.* Surgical shunt ma y be
nee ded fr om brain to abdomen, per itoneum will reabsor b the fluid.* Shunt complications include bac ter ial infections
( think Sta ph yloc occ us epider midis) .
An terior Horn Ce ll Disease
* Pedia tricia n exa mines an infant who is on the exa m table in a fr og- le g position with subdia phra gma tic retractionsand
absent te ndon ref le xes.

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 78 -* Spinal muscular a tr ophy (SMA)
t ype I is ca lle d Wer dnig- Hoffman disea se.* Werdnig- Hoff ma n is a de gene rative disea se of the mot or neur ons, atr oph y
of anter ior hor n cells in the spina l cordand mot or nuc le i in the bra inste m. S o a tr ophy of motor ner ve r oots and
muscle s.* Werdnig- H offma n is autosoma l recessive. So odds of a sec ond child being affec ted are 1 in 4. Onset bef or e
2 yo.L ook for flopp y bab y, fr og-le g posture, fa scic ulations spec if ica ll y in the tongue. Tendon stre tc h refle xes are
absent,childre n ha ve nor ma l inte llige nce , disea se is unif or mly fata l.* E lectr omyogra m of Wer dnig-H offman will show
f ibr illation. Crea tine kina se will be nor ma l or high. Musc le biops y shows de ner vation. Nerve biopsy shows
slow conduc tion.* N o medical treatment to stop pr ogre ssion of the disease. Most die fr om respirator y failure,
aspiration, pne umonia .* S MA t ype III is called Kugelbe rg-Welander disease is a juve nile f or m.* 9 yo child pre se nts to
the pe diatr ic ian beca use of musc le pain and wea kne ss in the lower extre mitie s. The pa rentsstate tha t the child
is ref using to wa lk. The pa tient wa s seen appr oximatel y 10 da ys a go with ga str oe nter itis.* Guilla in-Ba rr s yndr ome
( GBS) generally oc curs with a preceding infec tion (e.g. ca mp ylobacter jejuni,myc opla sma ). There is an asce nding
para lysis, pol yne ur opa th y, any a ge affec te d.* GBS is gra dua l onse t and can la st da ys to wee ks. Ca n affec t musc les of
re spira tion so intubation ma y be nee ded.* Tendon refle xes are lost ear ly, wea kne ss ma y pr ogr ess to respirator y
muscle s, need to do a spinal tap (e le va ted pr otein, nor ma l gluc ose , white c ount is < 10).* Ner ve c onduction studies
show reduce d conduc tion and slowe d sensor y ner ve conduc tion.* Patients usually obser ved f or symptoms, ve ntilator
nee ded if respira tor y c ompr omise.* IV Ig ma y be use d, some use ste r oids, some use immunosuppre ssive drugs
or pla sma phe resis.* Ge nera ll y spontane ous recover y in 2-3 wee ks. Ma inta in suppor tive care.
He reditary Neuropathy & Muscular Dystrophy
* Teena ger pre se nts to the clinic with cla w ha nds and stor k-like lowe r extre mities.* Charc ot-Marie -Tooth disea se is
the most c ommon ge ne tic neur opathy, per oneal musc ula r atr oph y, autosoma ldominant affec ting all ge nera tions,
s ympt oms in late childhood or earl y adole scence .* CMT s ympt oms include ga it disturba nces, clumsine ss with tripping
ove r own feet, pectus exca va tum b y teena ge yea rs, tre mor s, sensor y loss in a stoc king-glove distr ibution.* Per onea l
and tibia l ner ve s are the most frequentl y affecte d, muscle wa sting of lowe r le gs ( stor k like appearance) ,claw hands,
and ner ve s can be pa lpate d.* Decrease d se nsor y and mot or ner ve conduc tion. Test is a sural ne r ve biops y, showing
onion-bulb f or mationar ound the axons ca lle d inter stitia l hyper tr ophic ne ur opath y.* Definitive ge ne tic dia gnosis is via
blood testing.* Treatment is brace with or thotics, ner ve conduc tion studie s, no cure or good trea tme nt.* 3yo boy
is br ought to the pediatricia n because the patie nt is c lums y. Acc or ding to the boys parents he is ha vingdifficult y
c limbing sta ir s and fre que ntly falls. Exa m shows h ype rtr oph y of the ca lve s with pr oxima l atr oph y.* Duche nne
muscular d ystr oph y (D MD) is the most c ommon hereditar y neur omuscular disease , x-linked recessive,30% are ne w
mutations, f ir st sign ma y be poor hea d contr ol (head la g) .* Pse udo- hypertr ophy of the calve s is due to fa tt y
inf iltr ation. Mild if an y dela y in earl y gr oss mot or skills. Gowe r sign is seen b y 3yo where the child cra wls up on
the mse lve s due to limb- gir dle wea kne ss, ma y ha ve Trende le nburgga it or duc k- wa ddle whe n the y walk, patie nts will
e ve ntua ll y lose ambulation, de ve lop poor coughing and phar yngea l we a kness, car diomyopath y, unif or ml y fa tal dying
fr om re spira tor y insufficie nc y or infec tions.* Treatment is suppor tive.* D ia gnosis is ma de b y musc le biops y.
Suspic ion with exa m and fa mil y histor y, blood test shows grea tl y e le va tedcrea tine kinase ( CK) . Ma y ge t a histor y
of ma ligna nt h ype rther mia .* 5 yo goes for surger y to ge t tubes put in his ears. After induction of ane sthe sia, the
pa tient de velops malignanth ype rther mia. CK is hugel y ele vate d. Fur ther te sting da ys la ter re vea ls Duche nne muscular
d ystr oph y.* Dea th usually oc cur s by age 18 fr om re spira tor y pr oble ms, rarel y hear t pr oble ms.* Be c ker muscular
d ystr oph y is a juve nile f or m of DMD , cour se is slowe r, pse udohyper tr oph y, cardiac and ner voussyste m involve me nt,
less common tha n DMD .
Neurocutaneou s Syndrome s
* 6 yo prese nts to the pedia tricia n f or r outine evalua tion. The child is note d to ha ve 10 caf-au-la it lesions as well
asa xillar y frec kling. This is von Rec klinghausen (ne ur ofibr oma tosis).* Neur ofibr oma tosis (N F) is autosomal
dominant, there are spontane ous muta tions. For ms are N F1 and N F2.* NF pa tients are high r isk for ne ur ologic
c omplica tions as well as malignant ne oplasms.* Caf -au-lait spots should be counte d. For NF1, nee d 5+ spots >
5mm in size pre-puber ta l or at least 6 spots >15mm post-puber tal. There ma y be axilla r y or inguina l frec kling. Lisch
nodules are f ound in the e ye, onl y seen on

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 84 -* S yste mic thera py is indica te d if there
is se vere acne or not responding to topicals. Dr ug of choice is te trac yc line,tell pa tient to avoid pre gnanc y.* Next step
is hor monal thera py, suc h as anti-andr oge n like spir onolactone. Last ste p is syste mic isotr etinoin, and you ha ve to
ge t a pre gnanc y te st prior to star ting the rap y. Ma y need pa tient to sign an agree me nt about pre gnanc y.*
Cor tic oster oids can he lp as we ll as der mal abra sion.* Complica tions of acne inc lude scar ing, sec ondar y
infec tion/infla mmation from popping zits, medica tion effec ts.
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Kap lan Vide os (2001) C ongen it al Malf or mat ion w ith D r. Eduard o
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Bec kwith- Wie demann Syndrome ( BWS )

* Be c kwith-Wiede ma nn s yndr ome ( BWS) occ ur s in about 1 in 14,000 live births. Charac ter ize d by mac r osomia
andaccelerate d osse ous matur ation. Ma y ha ve menta l def ic ienc y, mild to mode rate .* Ph ysica l exa m will show
ma cr oglosia , which can obstr uct the a ir wa y and cause feeding pr oble ms.* Exa m shows large fonta nelle and possibl y a
linear fissure in the ear lobe.* BWS ba bie s are at r isk f or h ypogl yc e mia , oc cur s in 1/3 to 1/2 of patie nts.* Can ha ve
organome ga l y of the pancrea s and kidne y, can ha ve an omphalocele.* Neona te will ha ve apnea and c ya nosis with
feeding pr oble ms due to large tongue . Treatment f or the macr oglosia iswait for the child to ge t older and the mouth
will gr ow ar ound the tongue.* BWS ba bies are at higher r isk for Wilms tumors and he patobla stoma s.* Treatment
inc ludes screening rena l ultr asounds ever y six months until 6 yo.
Potter Syndrome
* P otter syndr ome ba bie s ha ve characte ristic facies with sma ll chin, sma ll nose , low-se t ear, and no kidne ys.* P otter
s yndr ome ba bies ha ve bila tera l rena l agene sis tha t is inc ompa tible with life .* The y die fr om re spira tor y insufficie nc y
due to poor l y de velope d lungs. The y c ould not ur ina te in-ute r o, so le ssa mniotic fluid which he lps with lung
de velopment.* Potter s yndr ome a ssocia te d with a histor y of oligohydr a mnios, die fr om pulmonar y hypoplasia .* P otter
fac ies is h ype rte lor ism (wide spaced e yes), epica nthic f old, low-set ma lf or me d ear s, micr ognathia, f lat nose.* Pier re
Robin se que nce is a part of some s yndr ome s or ma y be an isola te d finding. Assoc ia ted with se vere micr ogna thia .
H ypoplasia of the ma ndibular area, pushing tongue bac k and pre venting closure of the pala ta l shelf sothe y ma y ha ve a
c left sof t pa la te associated with the pr oble m.* P ierre Robin sequence assoc ia te d with gl ossoptosis ( tongue stic ks out a
little), re lative ma cr oglosia.* Patients ma y re quire trac he ostomy until the airwa y reac hes the pr oper size to not be a
pr oble m.* Pier re Robin s yndr ome can be a feature of other s yndr ome s like Edwa rd or Stic kle r syndr ome
(autosoma ldomina nt with ar thr itis and oc ular pr oble ms).* With Pierre Robin se que nce, think about a irwa y pr oble ms.
Fetal Alcoh ol Syndrome ( FAS )
* Alc ohol is the most c ommon tera toge n to whic h the fe tus will be exposed.* The a mount of a lc ohol neede d to ge t
teratogenic effec ts is unknown.* Feta l alc ohol syndr ome associated with pre - and post-na ta l gr owth def icienc y, mental
re tarda tion, a ve ra ge IQ of 63 partic ularl y in full syndr ome , irr itabilit y, hyperac tive as childr en, fine motor
d ysf unction.* Ph ysica l findings include micr ocephal y, short palpebral f issures, maxillar y hypoplasia, shor t
nose , smooth philtrum, thin uppe r lip, mic r ogna thia .* FAS assoc ia ted with cardiac anoma lie s, usua ll y septal defects.
Ma y ha ve ptosis, c left lip, tetr ology of Fa llot.* Appear as fa ilure to thr ive beca use the y ha ve thin adipose tissue.*
S ymptoms de pend on how much the mother dra nk dur ing pre gnanc y.* FAS with 2 drinks per da y results in a smaller
bir th size .* FAS with 4-6 drinks per da y results in subtle physical findings.* FAS with 8-10 dr inks per da y re sults in
se vere fe tal a lc ohol syndr ome .* There is no treatment f or FAS .
Down Syndrome
* Trisomy 21 is the most c ommon f or m of c ongenita l malf or ma tion, 1 in 660 bir ths.* Signs include hypot onia,
pr otruding tongue, shor t sta ture, a wkwa rd ga it, h ype rflexible j oints, diasta sis of therectus musc le, me ntal retar dation,
f or eshor te ned AP dia meter of the hea d, upslanting palpe bral fissure s.* D own charac teristics inc lude s epica ntha l f olds,
mongoloid sla nt to e yes, slightl y pr otruding tongue, simia n crea se(10% of nor ma l popula tion has this), wide
space between f irst and sec ond toes (sa nda l toe s) , charac ter istic der ma togl yphic f ingerprint patter n, clinodact yl y ( short
cur ved inwa rd 5th finger) , low-set ear s sometime s.

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 85 -* E ye s can show Brushfield spots in
the per ipher y of the ir is. Ca n ha ve h ypopla stic teeth.* Car diac abnor ma litie s include endocardia l cushion
defec ts, ASD s, VSDs.* Can ha ve ve r y dr y skin and can ha ve cutis ma r mora ta (like mottled skin) .* Pubic hair is f ine ,
soft, spar se, and straight.* Ma y ha ve seizure s, strabismus. Re me mber duodena l atresia .* D own childre n at higher
r isk for ma lignanc ie s, inc luding leuke mia and th yr oid disea se .
Edward Syndrome
* Trisomy 18 ha ve a pr omine nt oc ciput (c ompared with fla t occ iput in D owns) .* Will ha ve we a k or feeble activit y, a
wea k cr y, gr owth def ic ienc y, me ntal retar dation, low-set ear.* Ha nds will ha ve ove rlapping finger s (4th ove r 5th, 3rd
ove r 2nd) and hypoplastic nails.* Ca n ha ve ha mme r toe s and roc ke r bottom feet.* Cardiac defec ts inc lude ASD s,
VSD s, PD A.* U p to 10% sur vive to one ye ar of a ge .
Marf an Syndrome
* Ma rfan charac ter istica ll y is ver y ta ll patie nt with long f ingers (arachnodac tyl y) , long limbs,
muscle h ypotonia ,kyphosis or sc oliosis, le ns disloca tions or lens subluxations ( ma y we ar really thic k e ye glasse s) .*
T hese pa tients are a t higher risk f or dissecting a or tic aneur ys ms. Ca use d by a defect in f ibr illin ge ne .* Ma y
ha ve he mive rtebra , sc oliosis. Ar e of nor mal inte lligence. Autosomal domina nt.
Turner Syndrome
* L ook for pitting lymphe de ma in a ne wborn. This will go a wa y.* Turner pa tients all ha ve shor t sta ture, so think
about Tur ner with any shor t sta ture fe ma le for e va lua tion.* Signs include wide -spaced nipples ( shield che st), multiple
ne vi, low poster ior hairline (webbed nec k, pter ygiumc olli), cubitus va lgus (cannot stra ighten ar m), h ypogona dism.*
Risk for aortic coarcta tion, bic uspid a or tic va lve, hor seshoe kidne y, ma y ha ve blue sclera.* Treatment is estr ogen
replace ment whe n the y ge t to the right age.
Prune Belly Syndrome
* Prune bell y s yndr ome is c ongenita l absence of the abdominal muscles.* H igher risk for rena l abnor ma lities,
volvulus, constipa tion, unde scended testes, 95% are ma le s.
Eh ler-Dan los Syndrome ( EDS)
* E hle r-Danlos syndr ome is autosoma l domina nt, ma y ha ve ver y stre tch y skin. Autos oma l recessive in t ype VI.* This
is a colla gen def ic ienc y, h ype rextensible j oints, velve ty skin, fr iable easil y br uising skin, poor healing.* Avoid
surger y on EDS pa tients as much as possible. Risk of uter ine tear s. Mitra l va lve pr ola pse oc cur s.
Peutz- Jeghe r Syndrome
* H yper pigme nte d lesions see n in ora l muc osa , goes awa y with ti me . Associated with multiple pol yps.* Autosomal
dominant, high ra te of sponta ne ous mutation.* Lesions on lips and muc ous me mbrane s. Polyps f ound in the jejunum,
na sopha r ynx, and bladder.* Polyps usua ll y do not tur n ma ligna nt. Patie nts can ha ve f inger clubbing.
Klinefelte r Syndrome
 * Pa tie nts ha ve hypogonadism, slender, tall, eunuchoid ha bitus.* Patie nts ha ve gyne c oma stia . Will ha ve low IQ and
be ha vior pr oble ms.
Fragile X Syndrome
* Fra gile X is the most c ommon cause of inher ited mental re tar dation.* Signs are big ears, big hea d, big testicle s
( or chidome gal y) , and me nta l retar dation.
Ataxia Telangiec tasia Syndrome
* Ata xia telangiec ta sia s yndr ome is autosoma l rece ssive . Ata xia be gins shortl y af ter the y can walk.* Telangiecta se s
appear at about 3-6yo. Will be wheelc hair bound by a ge 10.* Proble m with upper respirator y pr oble ms and immune
def ic ienc ie s. H igher risk for malignanc y.* There is a taxia, chore oa thetosis, dr ooling, ma sk- like fac ies.
Prade r- Willi Syndrome
* Prade r-Willi s yndr ome is 3 H s and an O . H ypome ntia, h ypotonia , hypogonadism, obe sit y. These childre n ha ve
a pr oble m with le ptin and will a lwa ys be hungr y, parents ma y need to loc k the cabine ts and refrigera tor.* Pa terna l
de le tion of chr omosome 15, impr inting defec t si milar to Angel ma n s yndr ome.
Waardenbu rg Syndrome
* Waar denburg ha s la tera l displace me nt of the inner canthus, se ve re bila tera l def tne ss, par tial albinism.* Ma y
de scr ibe pa rtia l albinism as a white f oreloc k, white hair in the middle with the rest of the hair blac k.* This is
autosoma l dominant, dont forget hear ing loss.

S tudy N ote s Pediatr ic s Ja mes La mberg28Jul2010D O NOT D IST RIBUT E - 86