Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association

• Main Authors: Ahmed Al Sarkhy, Saeed Hassan, Mona Alasmi, Asaad Muhammed Assiri, Fowzan S. Alkuraya
• Format: Article
• Language: English
• Published: King Faisal Specialist Hospital and Research Centre 2014-01-01
• Series: Annals of Saudi Medicine
• Online Access: https://www.annsaudimed.net/doi/full/10.5144/0256-4947.2014.81

Prader–Willi syndrome (PWS) is a rare genetic disorder caused by deletion or unexpression of the chromosome 15 (q 11-13). Symptomatologies include hypotonia, hyperphagia, cognitive impairment, and characteristic dysmorphic profile. Here, we report a 4-year-old boy with PWS who presented with complications of congenital hepatic fibrosis. The uniparental heterodisomy makes it unlikely that the hepatic fibrosis was caused by unmasking of a recessive mutation on the maternal chromosome 15 although we cannot exclude the possibility of a recessively inherited mutation elsewhere given the parental consanguinity. This is the first report of congenital hepatic fibrosis in PWS.