Alström syndrome and cecal volvulus in 2 siblings

Am J Med Sci. 2009 May;337(5):383-5. doi: 10.1097/MAJ.0b013e3181926594.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Abnormalities, Multiple / therapy
  • Adult
  • Blindness / diagnosis
  • Blindness / genetics*
  • Cardiomyopathy, Dilated / diagnosis
  • Cardiomyopathy, Dilated / genetics*
  • Family Health
  • Female
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Intestinal Volvulus / diagnosis*
  • Intestinal Volvulus / pathology*
  • Intestinal Volvulus / therapy
  • Lung Diseases / diagnosis
  • Lung Diseases / genetics
  • Male
  • Mutation / genetics
  • Renal Insufficiency / diagnosis
  • Renal Insufficiency / genetics
  • Syndrome*
  • Treatment Outcome