Question
A 1 year 8 months old boy born of non consanguineous marriage presented with abdominal distension for a month and jaundice for 15 days. On examination, he had hepatosplenomegaly with firm hepatomegaly and a leafy border. There were no other signs of liver cell failure. Investigations showed:
• Bilirubin = 0.6 mg, dl, SGOT = 1235 IU, L, SGPT = 235 IU, L, GGTP = 640 IU, L,
Albumin = 3 gm, dl, Alkaline phosphatase = 607 IU, L.
• HBsAg, HIV, Hepatitis C – Negative
• ANA, Anti LKM, Anti smooth muscle antibody = Normal
• Plasma aminoacidogram, urine aminoacidogram = Normal
• USG Abdomen = hepatosplenomegaly. No portal hypertension.
• Ophthalmological examination = Normal
• Liver biopsy = micronodular cirrhosis with mallory hyaline disease and copper stain positive suggestive of Indian childhood cirrhosis.
• Serum copper = 243 µg, dl {Normal = 80–190}
• S. ceruloplasmin = 378 mg, dl {Normal = 30-65}
• 24 hours urine copper = 269.82
• Bone marrow = No storage cells.