Diagnostic Dilemma


Author: Pediatric Oncall
A 9 years old boy born of non-consanguineous marriage presented with jaundice since 20 days. His older brother had also died due to jaundice. On examination, he had icterus with firm hepatosplenomegaly. In view of firm hepatomegaly, an underlying chronic liver disease was suspected though presentation was that of acute hepatitis. Investigations showed:
• Bilirubin = 14.3 mg/dl (direct = 4.6 mg/dl), SGOT = 210 IU/L, SGPT = 39 IU/L, total proteins = 7.6 gm/dl, albumin = 2.5 gm/dl.
• Both prothrombin time & partial thromboplastin time = prolonged
• HBsAg, Anti hepatitis C, HIV = Negative
• S.ceruloplasmin = Low (8.5 mg/dl)
• 24 hours urine copper = 676.16 mg/dl
• Ophthalmology = No KF ring
• ANA, Anti LKM = Negative, Anti smooth muscle Antibody = weakly positive
• USG Abdomen = Splenomegaly with hepatomegaly (coarse echotexture) with collaterals periportal. The child subsequently went into hepatic encephalopathy and died.
• Liver biopsy = Not done

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