Skip Navigation LinksHome > May 2009 - Volume 337 - Issue 5 > Alstrom Syndrome and Cecal Volvulus in 2 Siblings.
American Journal of the Medical Sciences:
doi: 10.1097/MAJ.0b013e3181926594
Case Report

Alstrom Syndrome and Cecal Volvulus in 2 Siblings.

Khoo, Eric Y. H. MBChB, MRCP; Risley, James MBBS; Zaitoun, Abed M. MD, PhD, FRCPath; El-Sheikh, Mohamed FRCS; Paisey, Richard B. MD, FRCP; Acheson, Austin G. MB, ChB, FRCS; Mansell, Peter MA, PhD, DM, FRCP

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Alström syndrome (ALMS1, MIM 203800) is a rare, autosomal recessively inherited monogenic condition caused by mutations in the ALMS1 gene located on the short arm of chromosome 2. ALMS1 is a multisystem condition characterized by childhood onset of blindness, dilated cardiomyopathy, sensorineural hearing loss, renal failure, fibrotic lung disease, and metabolic abnormalities, including hypertriglyceridemia, liver steatosis, insulin resistance, type 2 diabetes mellitus, and obesity. We describe 2 siblings with ALMS who presented with the potentially life-threatening condition of acute cecal volvulus, an association not previously reported. Cecal volvulus may, therefore, represent a significant new feature of the Alström syndrome.

© Copyright 2009 Southern Society for Clinical Investigation


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