CRITICAL

ILLNESS IN
CRETINISM
-By Dr. Gurpreet Singh

CASE-1
4 months old female baby admitted on 20/02/15
with complaints of:

Single episode of unconsciousness 5 days back

Single episode of epistaxsis 5 days back
Difficulty in breathing since 4-5 days
No h/o fever , vomiting
h/o lethargy, constipation since birth
h/o developmental delay

On Admission
Child had an episode of apparent life

threatening event(ALTE) in ER i.e.

bradycardia requiring CPR for few seconds
preceded by excessive crying.
Child also had blood tinged frothy secretions

from nose and mouth during the episode.

Child was stabilized and supplemental
oxygen was started

Examination
Child was lethargic

Facial puffines; depressed nasal bridge;

large tongue; short neck, Cold peripheries,

Umbilical hernia present
RR 50/min, Nasal flaring present, Use of

accessory muscles present

Suprasternal and intercostal retractions

present
Crepitations present bilaterally ; more on
right side

X-RAY

Course in PICU
Supplemental oxygen was changed to high flow

nasal canula (HFNC)

VBG was 7.27/51.8/92.3/23.1
Echocardiogram was normal
Lab Investigations revealed macrocytic anaemia
with Hb of 6.6 ; blood transfusion was done.
Thyroid profile done on 21/02 revealed TSH of
629 and T4 of 0.6 suggestive of Congenital
Hypothyroidism
Child was started on thyroxine

contd
Child clinically improved with

increased activity and resolution of

respiratory symptoms
Facial puffiness also reduced
Child was weaned from HFNC with
subsequent tapering of oxygen and
thereafter feeds started

No fever
ALTE with features of upper airway

obstruction and frothy secretions

precipitated by excessive crying
Chest X-ray suggestive of pulmonary
edema
High pCO2
No cardiac abnormalities
These features were suggestive of-

Post obstructive pulmonary edema

DIAGNOSIS
Congenital hypothyroidism
with Upper airway
obstruction with Post
Obstructive Pulmonary
Edema - I(POPE- I)

Post-obstructive pulmonary edema

Incidence : 0.05-0.1 % in anasthetic practices
Upper airway obstruction requiring urgent

intubation or tracheostomy : 11-12%

Types :
I : immediately after onset of acute airway

obstruction
II : after the relief of chronic upper airway
obstruction

ETIOLOGY
Type I

Type II

Postextubation laryngospasm

Posttonsillectomy
/adenoidectomy

Epiglottitis

Post removal of upper airway

tumor

Croup

Choanal stenosis

Foreign body, Choking

Hypertrophic redundant uvula

Strangulation
Hanging
Endotracheal tube obstruction

Mechanism of Negative Pressure Pulmonary Edema

8

Fluid
Fluidfrom
fromthe
the
interstitial
interstitial
space
spacefloods
floods
into
the
alveoli
into the alveoli

An
Anupper
upperairway
airway
obstruction
obstruction
occurs
occurs

AAdisruption
disruptionin
in
the
alveolar
the alveolar
membrane
membrane
junction
junctionoccurs
occurs
6

The
Thepatient
patient
continues
continuestrying
trying
to
toinhale
inhale
against
againstthe
the
obstruction
obstruction
3

Pressure
Pressurein
inthe
the
pulmonary
pulmonary
capillary
capillarybed
bed
increases
increases
4

5
Cardiac
Cardiacoutput
output
decreases
decreases

Venous
Venousreturn
return
to
tothe
theheart
heart
increases
increases

AAhigh
highdegree
degree
of
ofnegative
negative
intra-thoracic
intra-thoracic
pressure
pressure
develops
develops

Development of NPPE

NPPE Type II
Obstructing lesion produces modest level of PEEP

and increases end expiratory lung volume .

Relief of obstruction removes the PEEP and
returns lung volumes and pressures to normal.
Interstitial fluid transudation and pulmonary
edema.

Differential diagnosis :
Aspiration pneumonitis,
Iatrogenic volume overload
cardiogenic pulmonary edema
neurogenic pulmonary edema

Case series :
1) Respiratory medicine 2008 :14 adult patients
with POPE following extubation ( Laryngospam)
2) Chest 1988 : 167 had acute and 9 with chronic
obstruction. 20 developed POPE [croup, epiglottitis,
postextubation subglottic edema (16)surgical relief of
chronic obstruction (4)]

3) 53 pediatric patients undergoing adeno

tonsillectomy 5 patients developed POPE

CASE -2
3 month old female baby was admitted
on 10/3/15 with c/oFailure to thrive and lethargy since
birth
Difficulty in breathing with fast
breathing for 2-3 days
Decreased urine output for 2-3 days
No h/o fever, cyanosis, vomitting

contd
Baby was a 36 weeks preterm with

birth weight of 2.8 kgs

h/o delayed crying and NICU

admission for 2 days

h/o poor weight gain, lethargy ,

hoarse cry, episodes of choking on

feeding , hypotonia, constipation
present since birth
TSH done at day 3 of life was normal

EXAMINATION
On admission baby wasLethargic, conscious,
Facial puffiness, microcephaly, pallor, large
tongue, retrognathia, umbilical hernia was
present
RR 30/ min, stridor, b/l crepitations, subcostal
and intercostal retractions present
Treated initially with oxygen by hood, i.v.
antibiotics and i.v. fluids.
Ionotropic support was started for hypotension.

X- RAY

Lab investigations revealed :

Initial VBG - 7.21/43.3/65/22.9
Initial BUN/creatinine 38.5/3.9
CBC-Hb 10.3 ,TLC-3070 , platelet-1.87 lakhs
S.Elctrolytes- Na+ - 123, K+-5.0, Cl- -98
Thyroid profile done on 11/3/15 revealed TSH

772 /T4 -0.85 and S,Cortisol of 1250.

Creatine Phosphokinase(CPK) was 2166
units/l and urinary myoglobin was absent

ECHO showed 2 small ASDs with left to right

shunt
USG abdomen and USG cranium -normal
Baby became drowsy with worsening
respiratory efforts and ABG showed
7.19/62.8/70.9/23.3
Baby was intubated and ventilatory support
was started.

Renal dysfunction was attributed to

hypothyroid state leading to reversible

elevation of creatinine , reduced GFR
and RPF, decreased excretion of free
water and hyponatremia.
Increased CPK was thought as a result
of hypothyroid myopathy
Thyroxine was started i/v/o high TSH

and clinical features.

contd
Renal parameters , hyponatremia and

urine output improved with supportive care

and thyroxine subsitution.
BUN/Creatinine on 18/3/15 8.6/0.9
Baby became active , alert with increased
muscle tone and activity and CPK reduced
to 213.
Baby was weaned from ionotropes on
16/3/15

RESPIRATORY AND
VENTILATORY ISSUES
Baby was intubated on 11/3 i/v/o poor respiratory

efforts /hypoventilation.
Baby was weaned gradually from ventilatory

support to High Flow Nasal Cannula (HFNC) on 13/3

Baby was re-intubated on 14/3 due to

hypoventilation/apnea during sleep and

persistently increasing pCO 2 values on

sequential blood gas analysis.

contd
Bronchoscopic evaluation reveals

pharyngeal wall edema with no airway

obstruction.
Subsequent extubation efforts failed as
baby had high pCO2 values on pressure
support/CPAP mode and T-piece ventilation.
Central Hypoventilation /apnea during sleep

persists in otherwise active alert baby.

DIAGNOSIS
Congenital Hypothyroidism
with Renal dysfunction
with Myopathy with
Central hypoventilation

Congenital hypothyroidism
with central Hypoventilation
Brain dev 2010 Apr;32(4):332-7: polysomnographic evaluation
of infants aged 1.5 to 18 months diagnosed with congenital
hypothyroidism was done which revealed high proportion of
infants (43%) displaying central apnea in different degrees as
well as hypopnea . These features were seen predominantly
in female subjects between the age of 4-8 months.
Pediatric Research(1999)45, 301A301A; a 5 day old child
was reported as a case of central alveolar hypoventiation
with congenital hypothyroidism. Child had frequent episodes
of desaturation and bradypnea, frequency of which reduced
with thyroxine supplementation . Moreover the improvement
of the hypoventilation paralleled by a decrease of TSH and
increase of T4

Central Alveolar Hypoventilation

Syndromes
Congenital CausesCongenital Central Hypoventilation

Syndrome(CCHS)
CCHS is inherited in anautosomal dominant
manner. Most individuals with CCHS are
heterozygous for ade novoPHOX2Bpathogenic
variant.
Associated withneurocristopathy or developmental
anomaly of the neural crest,neural crest tumors,
and autonomic nervous system (ANS).

Contd.
Clinical features include usually adequate ventilation

when awake hypoventilation during sleep more

prominently in NREM sleep
Function of central chemoreceptors are impaired
with blunted response to hypoxemia and hypercarbia.
Treatment modalities include ventilatory support with
mechanical ventilator via a tracheostomy, NIV
ventilation , diaphragmatic pacing.
Later-onset CCHS (LO-CCHS) is a milder varint of
CCHS with presentation of hypoventilation in later
infancy and childhood.

Rapid-onset obesity hypothalamic dysfunction

and autonomic dysregulation(ROHHAD)

presents withhypothalamic dysfunction, and
autonomic abnormalities and alveolar
hypoventilation
Myelomeningicele with Arnol Chiari
Malformation type II also presents with central
hypoventilation secondarily to brainstem
herniation.
Obesity hypoventilation syndrome (OHS) is a
syndrome of central hypoventilation during
wakefulness that is seen in obese patients with
sleep disordered breathing.

Traumatic, ischemic, tumors and inflammatory

injuries in the brainstem region can result in

acquired central hypoventilation.