Question
A 1½ years old boy had fever with elevated liver enzyme sin January 2009. He continued to have persistently elevated liver enzymes and was referred in May 2009 for further management. There was no jaundice. On examination, he had no significant abnormality and no organomegaly. His Hepatitis A IgM, HBsAg, Hepatitis E ELISA and Hepatitis C antibody were negative. His ANA, anti smooth muscle antibody, anti LKM were negative. Serum alpha fetoprotein and urine aminoacidogram were normal. Liver biopsy copper content was 11.3 µg, gm though 24 hrs urine copper was 132.3. He continued to have elevated liver enzymes and at 4½ years of age, he presented with difficulty to get up from sitting position. On examination, he had calf hypertrophy with Gower’s sign positive. His CPK was 15,560 IU, L and EMG showed primary myopathy.