Wilson's disease: a patient undiagnosed for 18 years

CM Mak, S Tam, ST Fan, CL Liu, CW Lam
Division of Clinical Biochemistry, University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong

Wilson’s disease, an autosomal recessive disorder of copper metabolism, is the most common inherited hepatic disease in Hong Kong. Diagnosis is based on the presence of Kayser-Fleischer rings, typical neurological symptoms, and/or a low serum ceruloplasmin concentration (<0.20 g/L). Early detection and treatment protect patients and their presymptomatic siblings from devastating organ damage. The diagnosis of Wilson’s disease may nonetheless be overlooked if only established clinical and laboratory tests are used as diagnostic criteria. We report diagnosis of the disorder using genetic analysis of ATP7B in a presymptomatic sibling who escaped diagnosis during family screening 18 years previously. The patient was 11 months old when family screening was performed following diagnosis of Wilson’s disease in an elder sister. The boy was considered to be unaffected on the basis of laboratory results in the expected range: serum copper level, 4.6 micromol/L; serum ceruloplasmin level, 0.16 g/L; and 24-hour urinary copper excretion, 0.14 micromol/day. Molecular analysis of ATP7B was performed; it revealed that the two siblings shared the same compound heterozygous mutations (G943D and 2299delC). We recommend that molecular diagnosis is the only definitive means of diagnosing Wilson’s disease in children younger than 1 year.

Hong Kong Med J 2006;12:154-8

Key words: Adenosinetriphosphatase/genetics; Ceruloplasmin; Copper/metabolism; Hepatolenticular degeneration; Liver diseases