Alström syndrome and cecal volvulus in 2 siblings.
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.
Khoo
Eric Y H
EY
School of Biomedical Sciences, University of Nottingham, Nottingham, United Kingdom. ekhoo@doctors.org.uk
Risley
James
J
Zaitoun
Abed M
AM
El-Sheikh
Mohamed
M
Paisey
Richard B
RB
Acheson
Austin G
AG
Mansell
Peter
P
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D000328:Adult; D001766:Blindness / Q000175:diagnosis / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics*; D005192:Family Health; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D045822:Intestinal Volvulus / Q000175:diagnosis* / Q000473:pathology* / Q000628:therapy; D008171:Lung Diseases / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D051437:Renal Insufficiency / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D016896:Treatment Outcome