Wilson disease with hepatic presentation in an eight-month-old boy

Abstract

Wilson disease is an autosomal recessive disorder of copper metabolism that can cause fatal neurological and hepatic disease if not diagnosed and treated. The youngest child with normal liver function reported so far is an 8-mo-old Japanese boy with low ceruloplasmin levels, and the youngest child with elevated aminotransferase ever reported so far is a 9-mo-old Korean boy with confirmed by genetic testing. Here we report an 8-mo-old Chinese boy presented with elevated liver enzymes, and low serum ceruloplasmin level. Genetic analysis of ATP7B gene detected two heterozygous disease causing mutations (c.2621C>T/p.A874V and c.3809A>G/p.N1270S), and parental origins were determined. Persistent elevation of serum aminotransferase in this infant was normalized after zinc therapy. To our best knowledge, this is the youngest patient with elevated liver enzymes ever reported worldwide. We hope that this will raise awareness among pediatricians, leading to earlier diagnosis, timely treatment, and better clinical outcome.

Keywords: ATP7B; Copper; Hepatic presentation; Infant; Wilson disease; Zinc.

Figure 1

ATP7B gene sequencing detected two heterozygous mutations (p.A874V and p.N1270S) that have been reported to cause Wilson disease in the Wilson Disease Mutation Database (http://www.wilsondisease.med.ualberta.ca/database.asp), and predicted to be disease causing by Mutation Taster (http://www.mutationtaster.org).