Association of Wilson disease with neurofibromatosis.

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 common genetic disorders, with dominant autosomal inheritance, with a frequency estimated at 1:3,000 liveborns (2). The defect has been mapped to chromosome 17q. Among the clinical characteristics, visceral involvement is uncommon and hepatobiliary involvement is even more unusual (3). We present a rare case of the association of these two different genetic diseases.