Wilson disease is an autosomal-recessive disorder with copper accumulation and deposition in different organs. Disturbances in liver function and basal ganglia lead to hepatic and extrapyramidal motor symptoms. Age of onset ranges from 5 to 40 years of age. Wilson disease should be ruled out by measuring serum ceruloplasmin levels, and 24-hour urinary copper levels. We report a case of a 30 yea...

We describe a 17-year-old girl with haemolytic anaemia as presentation of Wilson disease. The diagnosis was based on the findings of < 20 mg/dl ceruloplasmin serum level, Kayser-Fleischer ring and Coombs-negative haemolytic anaemia. Genetic testing revealed the presence of the H1069Q heterozygous mutation. The patient was treated with Zinc acetate monotherapy, with good response, maintened afte...

The authors describe unusual MR findings in three patients with Wilson disease, eg, white matter changes in the base of the pons, and speculate whether the changes are caused by Wilson disease or by concomitant disease, and whether the pontine lesions they observed are primary or related to lesions located more rostrally.

Wilson disease is an autosomal recessive inherited disorder of hepatic copper metabolism resulting in the accumulation of copper in many organs and tissues. The defective gene is located on the long arm of chromosome 13 and codes for a transmembrane copper-transporting ATPase, ATP7B. The general incidence of the condition is 1:30,000 (1). Type 1 neurofibromatosis (NF-1) is one of the most commo...