1. INFANT WITH ACUTE LIVER FAILURE

2. 1.5 months, male, born of non consanguineous marriage, 1 st 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,10 th centile, Length -52cms, 5 th centile. Icterus+++,Pallor+, No dysmorphic features. No cataracts. No skin changes.

6. SYSTEMIC EXAMINATION P/A : Distended, dilated abdominal veins, umbilical hernia+, Liver 2cm, span 8 cm, firm, sharp margins, nontender. Spleen 3 cm,firm. Fluid thrill + RS : Air entry b/l equal CVS : S1S2 normal. CNS : Drowsy, tone, reflexes normal.

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 1 st dose antibiotics given Inj Vit K i.v

9. Day1Day 2Day 3Day 4Day 5Day 6 Hb(g/dL)6.85.57.65.17.37.0 TLC(/cumm)22,20026,50014,8003,6006,5005,900 Plt(/cumm)2.4L2.18 L1.3 L40,00038,00025,000 s.Bili T/D(mg/dl) 38/1432/2324/6.123/4.517.2/5.717.6/3.6 SGOT(IU/L)3062181709491105 SGPT(IU/L)94144100444240 s.Alb(g/dl)3.22.42.62.7 PT/PTT78.7/>2 mins52.5/>2mins RBS30131281426062 ABG (pH/Hco3/ pCO2) 7.46/13.5/18.6 Met Acidosis +Resp Alk 7.5/ 14.5/ 18.1 NH3 (micromol/l) 108188134 LDH(IU/L)2263 U.Red subsTrace2+3+ CRPNR

10. FURTHER MANAGEMENT For Fulminant hepatic failure Started i.v NAC, i.v L-ornithine, L-aspartate, GDR(glucose delivery rate) increased, PRBC Transfusion, FFP Transfusion. Sensorium deteriorated with worsening LFTs, Hypoglycemia inspite of increasing GDR. Shifted to IPCU

11. Day1Day 2Day 3Day 4Day 5Day 6 Hb(g/dL)6.85.57.65.17.37.0 TLC(/cumm)22,20026,50014,8003,6006,5005,900 Plt(/cumm)2.4L2.18 L1.3 L40,00038,00025,000 s.Bili T/D(mg/dl) 38/1432/2324/6.123/4.517.2/5.717.6/3.6 SGOT(IU/L)3062181709491105 SGPT(IU/L)94144100444240 s.Alb(g/dl)3.22.42.62.7 PT/PTT78.7/>2 mins52.5/>2mins RBS30131281426062 ABG (pH/Hco3/ pCO2) 7.46/13.5/18.6 Met Acidosis +Resp Alk 7.5/ 14.5/ 18.1 NH3 (micromol/l) 108188134 LDH(IU/L)2263 U.Red subsTrace2+3+ CRPNR

12. INVESTIGATIONS FOR ETIOLOGICAL DIAGNOSIS SEPSIS  CRP Negative,Blood Cultures negative. TORCH Titres  Negative HLH(Hemophagocytic Lympho Histiocytosis )  normal ferritin, bone marrow- no hemophagocytes.

13. Ctd.. IEM: TYROSINEMIA  AFP 400ng/ml (normal) GALACTOSEMIA  Urine Thin Layer Chromatography galactose+, Total Galactose High, GALT Enzyme level Low.

14. On 9 th 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