Wilson’s disease is a rare inherited autosomal recessive inborn error of copper metabolism characterised by toxic accumulation of copper in liver, brain, cornea and other tissues.
Materials and Methods The study was performed during January 2000 to January 2008. Children with chronic liver disease, and/or speech, gait disturbances, recent deterioration of school performance and siblings of proven cases of Wilson’s disease were included. Detailed clinical history, physical and neurological examination, serum ceruloplasmin <20 mg%, positive KF ring, increased 24-h urinary copper excretion (>100 mg/24 h), liver biopsy, dry liver copper quantitation were done.
Results 15 cases of Wilson’s disease were diagnosed between 5 and 18 years of age. 53.3% were between 10 and 14 years. The male to female ratio was 4 : 1. Hepatic manifestation alone was seen in 55% of cases (chronic liver disease). Neurological manifestation alone was seen in 26% (speech disturbance in 75%). Hepato and neurological manifestations were seen in 20%. Renal manifestations were observed in 13%. Liver biopsy showed cirrhosis in 75% and chronic hepatitis in 25%.
Conclusion Wilson’s disease most commonly presented between 10 and 12 years with male preponderence and predominantly hepatic manifestations. All the patients were treated with trientine and/or zinc acetate (elemental zinc 75–150 mg/day), dietary advice. The symptomatic treatment for dystonia, dyskinesia and seizures was given as and when required. The absence of family history and relative lack of previous hepatic involvement may lead to the delay in diagnosis. Early diagnosis is important, well-timed treatment can solve both hepatic and neurological signs.
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