Year 2019 / Volume 111 / Number 4
Case Report
Alagille syndrome: an uncommon cause of intrahepatic cholestasis in adults

323-326

DOI: 10.17235/reed.2019.5679/2018

Wei Zhang, Xinyan Zhao, Jian Huang, Xiaojuan Ou, Jidong Jia,

Abstract
Alagille syndrome (ALGS) is an autosomal-dominant multisystem disorder caused by mutations in Jagged 1 (JAG1) or NOTCH2. The penetrance is low but highly variable. It is almost exclusively diagnosed in children with cholestasis and, more rarely, in their adult relatives. Here, we report the case of a patient diagnosed with ALGS in adulthood. The patient was a 28-year-old male who presented with characteristic facial features, an eye abnormality, chronic cholestasis with bile duct paucity on liver biopsy, atrial defects and stenosis of the left internal carotid artery. A novel frameshift mutation, c.2087_2088insAAAAATGG (p. W697Kfs*49), in JAG1 was identified. To our knowledge, this is the first case of ALGS diagnosed in adulthood in China. ALGS should be considered as a differential diagnosis for intrahepatic cholestasis in adult patients with a wide variety of clinical manifestations, including cardiac disease, skeletal abnormalities, ocular abnormalities and characteristic facial features.
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References
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Zhang W, Zhao X, Huang J, Ou X, Jia J. Alagille syndrome: an uncommon cause of intrahepatic cholestasis in adults. 5679/2018


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Publication history

Received: 25/04/2018

Accepted: 13/11/2018

Online First: 11/02/2019

Published: 04/04/2019

Article revision time: 200 days

Article Online First time: 292 days

Article editing time: 344 days


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