Alström Syndrome with Portal Hypertension.

J Assoc Physicians India

Professor and Head of the Department, Department of Gastroenterology, Topiwala National Medical College and BYL Nair Ch Hospital, Mumbai, Maharashtra.

Published: October 2016

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Alstrom syndrome is an autosomal recessive multisystem disorder caused by mutation in ALMS1 (2p13). Very few cases of same are reported so far of same. We report a case of Alstrom syndrome (AS) who presented with type II diabetes mellitus and portal hypertension. Unilateral anorchia with hypergonadotropic hypogonadism is another unique feature of our case.

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