A practice guidelines on wilson's disease. Hepatology 2003;37:1475-92
- Roberts EA, Schilsky ML
- Available from: http://onlinelibrary.wiley.com…
Wilson disease is a rare autosomal recessive hereditary disorder of copper metabolism. It is characterized by excessive deposition of copper in the liver, brain, and other tissues due to mutation in the Wilson disease protein (ATP7B) gene which leads to impaired copper metabolism. We report a case of eighteen-year-old male patient, who presented at the Out-Patient Department of Medicine Unit 1, Abbasi Shaheed Hospital. He presented with history of ataxia for 2 years along with abnormal spastic hand movements and difficulty in speech for the same time period. These symptoms remained static till 12 months but later progressed with multiple episodes of fall after which he was bedridden. On further investigation, eye examination on slit lamp showed Kayser-Fleischer ring, low total leukocyte count and ceruloplasmin level of 0.03 g/L. Ultrasound results showed hyperechoic hepatic parenchyma with no mass or abscess. This case is notable to emphasize the diagnostic value of ceruloplasmin for early diagnosis and to prevent chronic psychosis along with neurological symptoms. We aim to review the clinical presentation, diagnostic modalities and current treatment and also to highlight the treatment trials underway for Wilsons disease in adult patients.