2. 1.5 months, male, born of non consanguineous
marriage, 1st by birth order, birth weight 2.9kg,
with h/o:
•Yellowish discoloration of eyes and skin since
3days
•Abdominal distension with increased frequency
of stools since 2days
•Fever since 1day
3. ON ENQUIRY:
Child apparently alright 3 days back when he
developed;
• Yellowish discoloration of skin and eyes with
high colored urine
• No clay colored stools.
• Abdominal distension progressively increasing
leading to respiratory distress.
• Stool frequency 9-12 episodes of green
stools/day
4. • One episode of malena.
• H/o fever, low to moderate grade for one day
• No h/o prolonged neonatal jaundice,
• No h/o seizures,
• No h/o refusal to feed or decreased urinary
output.
Birth h/o: Uneventful
Development h/o : Normal
Family & Past history: Not significant
5. GENERAL EXAMINATION
Drowsy, afebrile;
HR=124/min, pulses well felt;
RR=58/min, subcostal retractions+;
SPO2=98 on room air
BP= 74/46 mmHg, HGT -30 mg/dl
Anthropometry: Weight -4.2 kg,10th centile,
Length -52cms, 5th centile.
Icterus+++,Pallor+,
No dysmorphic features.
No cataracts.
No skin changes.
7. IMPRESSION
Hyperacute liver failure unlikely due to infection
alone;
D/D:
• In born error of metabolism precipitated by an
infection.
• TORCH Infection – but no h/o antenatal illness or
prematurity or IUGR, Normal at birth, until 3
days before admission
8. INITIAL MANAGEMENT
• O2 by hood
• I.V Fluids to maintain Euglycemia
• Blood Cultures collected
• 1st dose antibiotics given
• Inj Vit K i.v
14. On 9th day—
Child developed increasing respiratory distress,
Persistent hypoglycemia on GDR of 14,
Intubated & ventilated..
Child succumbed to his disease.
15. CONCLUSION
1.5 mnths old infant with
• Hyperacute liver failure
• Direct hyperbilirubinemia
• Persistent hypoglycemia inspite of high GDR.
• Metabolic Acidosis
• Urine Thin Layer Chromatography - Galactose+,
• Total Galactose High,
• GALT Enzyme level Low.
• Diagnosed as GALACTOSEMIA