WILSONS’ DISEASE: VARIOUS SHAPES OF ONE DISEASE

Objective: to find out the various clinical and biochemical presentations of patients with wilsons’ disease. methodology: this descriptive case series study was conducted in department of medicine and pediatrics at liaquat university hospital hyderabad/ jamshoro from july 2005 to october 2008.it included 24 consecutive patients below 35 years of age who presented with hepatic manifestations and/ or neuropsychiatric manifestations and or family history suggesting features of wilsons’ disease. patients with hepatitis b and c and those with history taking antipsychotic drugs were excluded from the study. patients data was included in a well designed performa. blood complete picture, liver function test with serum ceruloplasmin, 24 hour urinary copper, serum copper were sent. quantitative data such as age, hemoglobin etc were expressed as mean with ± sd and quantitative variables such as sex, movement disorders, hepatic involvement etc were expressed as frequency and percentage. results: this study included 24 cases 15(62.5%) male and 9 (37.5%) female with mean age 11.8±3.5 years. jaundice was found to be the most prevalent feature whereas stiffness of whole body was the most prevalent feature in central nervous system .kayser-fleischer rings were positive on slit lamp examination in 17 of 24(70.8%) patients .the mean hemoglobin level were 9.45±3.29g/dl,bilirubin1.9± 3.13 mg/dl,inr1.34±.35, serum copper 63.68 ±18.68ug/dl, cerulopasmin0.136±0.075g/l. the diagnosis of wilsons’ disease was made on sternlieb’s criteria in 70.8% of cases. conclusion: the wilsons’ disease is rare but important cause of chronic liver disease. it needs high degree of suspicion because it can involve various organs and early treatment can have good outcome.