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Analyzing Wilson's Disease

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Wilson’s disease is a well-known leading cause of chronic liver disease in children. However it may remain undiagnosed in a resource limited setting for a long period. We describe a six year male child diagnosed Wilson’s disease with extreme elevation of liver enzymes which is not reported earlier. The diagnosis was also baffling because of inconsistency of other laboratory parameters.

Introduction
Wilson disease is one of the common metabolic liver disorders prevailing worldwide. The diagnosis is always difficult in children [1]. It is also a chronic liver disease for which effective therapy is available therefore, early diagnosis is crucial. However because of its varied range of clinical manifestation, at times the diagnosis is clinically challenging. Early …show more content…

The diagnosis is further complicated when investigations does not support the condition.

Patient and observation
A six year male child presented with chief complaints of yellow discoloration of eyes and associated history of passing high coloured urine for three months. It was associated with nausea, diffuse abdominal pain and decreased appetite. There was no history of irritability, change in behaviour or altered sleep pattern and no bleeding from any site. He had not received blood transfusion any time in the past. There was no similar illness any of the family members. The child was admitted to a private institution for a two week period, but as there was no improvement, he was referred to our institute. At admission, he was afebrile and vitals were stable. General physical examination revealed mild pallor and severe jaundice. Gastrointestinal systemic examination revealed moderate hepatomegaly along with an enlarged left lobe of liver. There were no other clinical features suggestive of chronic liver disease. Investigations revealed a total serum bilirubin of 15.6mg/dl with conjugated fraction of 13.40mg/dl.

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