Published online Aug 7, 2015. doi: 10.3748/wjg.v21.i29.8981
Peer-review started: January 10, 2015
First decision: February 10, 2015
Revised: March 26, 2015
Accepted: June 16, 2015
Article in press: June 16, 2015
Published online: August 7, 2015
Processing time: 210 Days and 17.5 Hours
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.
Core tip: Wilson disease is rarely diagnosed during infancy. The youngest child with normal liver function reported so far is an 8-mo-old Japanese boy, and the youngest child with liver function abnormality is a 9-mo-old Korean boy. Here we report an 8-mo-old Chinese boy presented with elevated liver enzymes, and low serum ceruloplasmin level. Diagnosis of Wilson disease was confirmed with ATP7B gene sequencing of the index case, and parental origins of disease causing mutations were outlined. To our best knowledge, this is the youngest patient with elevated liver enzymes ever reported worldwide.