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Canadian Journal of Gastroenterology
Volume 26, Issue 6, Pages 330-332
http://dx.doi.org/10.1155/2012/176543
Original Article

Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum

Meghan Amson,1 Esther Lamoureux,2 Nir Hilzenrat,3 and Marc Tischkowitz1,4

1Department of Medical Genetics, Jewish General Hospital, Canada
2Department of Pathology, Jewish General Hospital, Canada
3Division of Gastroenterology, Department of Medicine, Jewish General Hospital, Canada
4McGill Program in Cancer Genetics, Departments of Oncology and Human Genetics, Lady Davis Research Institute, McGill University, Montreal, Quebec, Canada

Received 23 May 2011; Accepted 14 August 2011

Copyright © 2012 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

The authors describe two siblings, each with a different, rare genetic condition that affects liver function. The index case, the 18-year-old asymptomatic brother of a young man recently diagnosed with Wilson disease, presented for Wilson disease screening and was also found to have abnormal liver function suggestive of cholestasis. However, ceruloplasmin level, 24 h urine copper concentration and liver synthetic function were normal. Further hepatic investigations and genetic mutation analysis were performed, ultimately leading to a diagnosis of Alagille syndrome. He was treated with ursodiol, which resulted in normalization of his liver function tests. Subsequently, he was found to be a carrier for a mutation in the Wilson disease gene, ATP7B. In the present report, the potential implications of being a heterozygote for Wilson disease in the context of Alagille syndrome are discussed. Also stressed is that care must be exercised by the clinician when diagnosing family members who may present with two different disorders closely mimicking one another.