Case Presentation
Case Presentation
Case Presentation
ILLNESS IN
CRETINISM
-By Dr. Gurpreet Singh
CASE-1
4 months old female baby admitted on 20/02/15
with complaints of:
On Admission
Child had an episode of apparent life
Examination
Child was lethargic
present
Crepitations present bilaterally ; more on
right side
X-RAY
Course in PICU
Supplemental oxygen was changed to high flow
contd
Child clinically improved with
No fever
ALTE with features of upper airway
DIAGNOSIS
Congenital hypothyroidism
with Upper airway
obstruction with Post
Obstructive Pulmonary
Edema - I(POPE- I)
obstruction
II : after the relief of chronic upper airway
obstruction
ETIOLOGY
Type I
Type II
Postextubation laryngospasm
Posttonsillectomy
/adenoidectomy
Epiglottitis
Croup
Choanal stenosis
Strangulation
Hanging
Endotracheal tube obstruction
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
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)]
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
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
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.
contd
Renal parameters , hyponatremia and
RESPIRATORY AND
VENTILATORY ISSUES
Baby was intubated on 11/3 i/v/o poor respiratory
efforts /hypoventilation.
Baby was weaned gradually from ventilatory
contd
Bronchoscopic evaluation reveals
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
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