Alstrom syndrome: Case report of a rare genetic disease with potentially lethal complications

摘要

Alstrom syndrome (AS) is a rare autosomal recessive genetic disorder characterized by multiorgan dysfunction. We report a 20-year-old obese Saudi male who presented with congestive heart failure. However, he also demonstrated cone-rod retinal dystrophy, type 2 diabetes mellitus, bilateral sensori-neural hearing loss and short stature, fulfilling the clinical criteria for AS. Subsequent genetic analysis revealed homozygous mutation in the ALMS1 gene responsible for AS. DCM manifests in approximately two-thirds of individuals with AS at some stage during their lives and is a major cause of morbidity and mortality.