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

Expert Opinion :
Diagnosis of Wilson’s disease is challenging. More than 500 distinct mutations have been described in the Wilson gene, from which 380 have a confirmed role in the pathogenesis of the disease2. Thus gene analysis is usually not feasible to make a diagnosis of Wilson’s disease. Usually a combination of various laboratory parameters is necessary to firmly establish the diagnosis. As per European Association for Study of Liver Diseases (EASL) guidelines, Wilson’s disease can be diagnosed normally on the basis of combination of low ceruloplasmin (<1gm/L) and presence of kayser – Fleischer ring (K-F ring). As per the Scoring system developed at the 8th International Meeting on Wilson’s disease, Leipzig 2001; this child has a score of 4. Thus the diagnosis of Wilson's disease is established.
Answer Discussion :
Dimitra Lianou
wilson disease
15 Days ago
Wilson disease
16 Days ago

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