SGD B.

8 / LT Day
12

[NEUROSCIENCE] Congenital Disorder | Surgical As ect

Scenario (Study guide page 72) 1. What is your assessment for this patient? Assessment: Patient is a baby (female, 6 months), weakness of four limbs since birth. Has a big lump on lumbal area. Her mother has measles on one month. The patient is suspected neural tube defect (NT ) spina bifida aperta type meningomyelocele. Need further investigation and diagnostic procedure to support the diagnosis (ma e appropriate assessment) !i e u!trasonography" #$%" urodynamic" amniocentesis and neuro!ogic e&amination. 'ut" in this case (e can ma e the diagnosis )ust on anamnesis and physica! e&amination ((ritten in the case). #eningomye!oce!e is usua!!y apparent in specific sign: !ump in !um*osacra! area" paresis+p!egi on !im*s" incontinense" decrease of tonus and ref!e&. 2. What is your diagnosis? ,he *a*y is suffered neural tube defect! spina bifida aperta type meningomyelocele (myelomeningocele) . %t is esta*!ished from the c!inica! apparent ((ea ness of a!! !im*s" *ig !ump on !um*a! area). -. What is your p!an in managing this patient? Surgery to repair the defect (!"elo!eningocele re air is surgery to repair birth defects of the spine and spinal membranes) is usua!!y recommended at an ear!y age. 'efore surgery" the infant must *e hand!ed carefu!!y to reduce damage to the e&posed spina! cord. ,his may inc!ude specia! care and positioning" protective devices" and changes in the methods of hand!ing" feeding" and *athing. "ntibiotics may *e used to treat or prevent infections such as meningitis or urinary tract infections. #ost chi!dren (i!! re.uire lifelong treatment for pro*!ems that resu!t from damage to the spina! cord and spina! nerves. ,his inc!udes:

#ate$ precaution %entle downward pressure o&er the bladder may he!p drain the *!adder. %n severe cases" drainage tu*es (catheters) may *e needed. 'o(e! training programs and a high fi*er diet may improve *o(e! function. 'rthopedic or physical therapy may *e needed to treat muscu!os e!eta! symptoms. (rologic consultation is essentia!. Neurological !osses are treated according to the type and severity of function !oss.

)ollow*up e$aminations genera!!y continue throughout the chi!d/s !ife. ,hese are done to chec the chi!d/s deve!opmenta! !eve! and to treat any inte!!ectua!" neuro!ogica!" or physica! pro*!ems.

Neuroscience and Neurological Disorder| Medical Faculty dayana

ni!ersity 2"12

SGD B.8

SGD B.8 / LT Day

12

[NEUROSCIENCE] Congenital Disorder | Surgical As ect

0isiting nurses" socia! services" support groups" and !oca! agencies can pro&ide emotional support and assist (ith the care of a chi!d (ith a mye!omeningoce!e (ho has significant pro*!ems or !imitations.

1earning ,as 1. 2enera! features of norma! neurodeve!opment Neuru!ation is the formation of the neura! tu*e from the ectoderm of the em*ryo. %t fo!!o(s gastru!ation in a!! verte*rates. 3uring gastru!ation ce!!s migrate to the interior of em*ryo" forming three germ !ayers4 the endoderm (the deepest !ayer)" mesoderm and ectoderm (the surface !ayer)4from (hich a!! tissues and organs (i!! arise. %n a simp!ified (ay" it can *e said that the ectoderm gives rise to s in and nervous system" the endoderm to the guts and the mesoderm to the rest of the organs. After gastru!ation the notochord4a f!e&i*!e" rod5shaped *ody that runs a!ong the *ac of the em*ryo4has *een formed from the mesoderm. 3uring the third (ee of gestation the notochord sends signa!s to the over!ying ectoderm" inducing it to *ecome neuroectoderm. ,his resu!ts in a strip of neurona! stem ce!!s that runs a!ong the *ac of the fetus. ,his strip is ca!!ed the neura! p!ate" and is the origin of the entire nervous system. ,he neura! p!ate fo!ds out(ards to form the neura! groove. 'eginning in the future nec region" the neura! fo!ds of this groove c!ose to create the neura! tu*e (this form of neuru!ation is ca!!ed primary neura!ation). ,he anterior (front) part of the neura! tu*e is ca!!ed the *asa! p!ate6 the posterior (rear) part is ca!!ed the a!ar p!ate. ,he ho!!o( interior is ca!!ed the neura! cana!. 'y the end of the fourth (ee of gestation" the open ends of the neura! tu*e (the neuropores) c!ose off ,he spina! cord forms from the !o(er part of the neura! tu*e. ,he (a!! of the neura! tu*e consists of neuroepithe!ia! ce!!s" (hich differentiate into neuro*!asts" forming the mant!e !ayer (the gray matter). Nerve fi*ers emerge from these neuro*!asts to form the margina! !ayer (the (hite matter). ,he ventra! part of the mant!e !ayer (the *asa! p!ates) forms the motor areas of the spina! cord" (hi!st the dorsa! part (the a!ar p!ates) forms the sensory areas. 'et(een the *asa! and a!ar p!ates is an intermediate !ayer that contains neurons of the autonomic nervous system 1ate in the fourth (ee " the superior part of the neura! tu*e f!e&es at the !eve! of the future mid*rain4the mesencepha!on. A*ove the mesencepha!on is the prosencepha!on (future fore*rain) and *eneath it is the rhom*encepha!on (future hind*rain). ,he optica! vesic!e ((hich (i!! eventua!!y *ecome the optic nerve" retina and iris) forms at the *asa! p!ate of the prosencepha!on.

2. 7tio!ogy neura! tu*e defect

Neuroscience and Neurological Disorder| Medical Faculty dayana ni!ersity 2"12

SGD B.8

SGD B.8 / LT Day

12

[NEUROSCIENCE] Congenital Disorder | Surgical As ect

8hromosoma! a*norma!ities (trisomy 1-" 19" 21) a!so have *een associated (ith N,3s. 7nvironmenta! factors (decrease of fo!ic acid) have *een imp!icated in the pathogenesis of N,3s. N,3s

-. :athogenesis of neura! tu*e defect #aterna! fo!ic acid deficiency is an environmenta! factor strong!y associated (ith neura! tu*e defects. Serum from (omen (ith pregnancy comp!icated *y a neura! tu*e defect may contain autoanti*odies that *ind fo!ate receptors and *!oc the ce!!u!ar upta e of fo!ate. ;. :ossi*!e treatment of the symptom ,oo appropriate fo!ic acid supp!ements *efore and during pregnancy" N,3s cou!d *e reduced *y c!ose to 7< percent. ,he symptom is variety" according to the severity of neura! tu*e defects.

<. :rognosis of the disease ,he prognosis for neura! tu*e defects varies significant!y from one case to the ne&t. Whether a chi!d (i!! do (e!! or not and (hether a fetus (i!! survive to *ecome a chi!d depends on the type of defect that occurs and ho( severe it is. ,here are many types of neura! tu*e defect" prognosis factors" and other e!ements to consider. %n genera!" the prognosis is re!ative!y grim for most patients. ,hose (ho survive to *irth and !ive more than a fe( days (i!! !i e!y face serious motor s i!! issues and physica! deve!opment issues. A!! in a!!" the actua! prognosis (i!! vary from one condition to the ne&t. Prognosis for +e&ere Neural Tube ,efects Anencepha!y" %niencepha!y" and =ydranencepha!y are the most dangerous of the neura! tu*e defects that you (i!! find. ,hese are very severe ma!formations that occur ear!y on and the fetus (i!! rare!y ma e it to *irth. %n the event that *irth occurs" most (i!! *e sti!!*orn. ,he infants (ho are a!ive at *irth (i!! genera!!y on!y !ive for a matter of hours (ith these conditions. As such" treatment is focused more on !o(ering the mother>s ris and supportive or symptomatic treatment at the time of *irth" if necessary. %n the case of these defects" the mother>s !ife can a!so *e )eopardi?ed. Some professiona!s (i!! discuss vo!untary termination at this point *ecause of the poor prognosis and the ris invo!ved (ith the mother>s !ife. Prognosis for -ild and -oderate Neural Tube ,efects 8onditions that are mi!der !i e Spina 'ifida" 8hiari #a!formation" and other neura! tu*e defects that aren>t severe (i!! have a much *etter prognosis. %n some cases" chi!dren can !ive for years (ithout incident" and even have a rich" fu!! !ife. Some impaired motor s i!!s and deve!opmenta! disa*i!ities (i!! resu!t from the defect" *ut this shou!d not cause serious issues in dai!y !ife. %nfants (ho deve!op these conditions typica!!y !ive to *irth and (e!! *eyond" and can have successfu! treatment of their condition so that they can !ive a fu!! !ife. @f
Neuroscience and Neurological Disorder| Medical Faculty dayana ni!ersity 2"12

SGD B.8

SGD B.8 / LT Day

12

[NEUROSCIENCE] Congenital Disorder | Surgical As ect

course" it varies from one condition to the ne&t" *ut these defects have a much !o(er ris of death than the severe defects !isted a*ove.

Neuroscience and Neurological Disorder| Medical Faculty dayana

ni!ersity 2"12

SGD B.8