1. INFANT
WITH
ACUTE LIVER FAILURE

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.

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
• 1st dose antibiotics given
• Inj Vit K i.v

9. Day1 Day 2 Day 3 Day 4 Day 5 Day 6
Hb(g/dL) 6.8 5.5 7.6 5.1 7.3 7.0
TLC(/cumm 22,200 26,500 14,800 3,600 6,500 5,900
)
Plt(/cumm) 2.4L 2.18 L 1.3 L 40,000 38,000 25,000
s.Bili 38/14 32/23 24/6.1 23/4.5 17.2/5.7 17.6/3.6
T/D(mg/dl)
SGOT(IU/L) 306 218 170 94 91 105
SGPT(IU/L) 94 144 100 44 42 40
s.Alb(g/dl) 3.2 2.4 2.6 2.7
PT/PTT 78.7/>2 mins 52.5/>2mins
RBS 30 131 28 142 60 62
ABG 7.46/13.5/18. 7.5/
(pH/Hco3/ 6 14.5/
pCO2) Met Acidosis 18.1
+Resp Alk
NH3 108 188 134
(micromol/l)
LDH(IU/L) 2263
U.Red subs Trace 2+ 3+

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. Day1 Day 2 Day 3 Day 4 Day 5 Day 6
Hb(g/dL) 6.8 5.5 7.6 5.1 7.3 7.0
TLC(/cumm 22,200 26,500 14,800 3,600 6,500 5,900
)
Plt(/cumm) 2.4L 2.18 L 1.3 L 40,000 38,000 25,000
s.Bili 38/14 32/23 24/6.1 23/4.5 17.2/5.7 17.6/3.6
T/D(mg/dl)
SGOT(IU/L) 306 218 170 94 91 105
SGPT(IU/L) 94 144 100 44 42 40
s.Alb(g/dl) 3.2 2.4 2.6 2.7
PT/PTT 78.7/>2 mins 52.5/>2mins
RBS 30 131 28 142 60 62
ABG 7.46/13.5/18. 7.5/
(pH/Hco3/ 6 14.5/
pCO2) Met Acidosis 18.1
+Resp Alk
NH3 108 188 134
(micromol/l)
LDH(IU/L) 2263
U.Red subs Trace 2+ 3+

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 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