Alstrom Syndrome: A Case Report

Abstract

Alstrom Syndrome was first described by Carl Henry Alstrom in 1959. The key features include childhood onset obesity, congenital retinal dystrophy leading to blindness, sensori-neural deafness. The associated endocrinologic aspects are early onset type 2 Diabetes Mellitus, hyperinsulinemia, hypertriglyceridemia. Mutations in the ALMS1 gene have been found to be causative for AS.The normal protein is present at very low levels in most tissues. The mutation results in a non-functional protein, explaining the various signs and symptoms of Alstrom's. Here we report on a case with Alstrom Syndrome at the age of 28 years. She came with the complaints of generalised swelling of the body, breathlessness, decreased urine output with a significant past history of visual and hearing impairment, diabetes, hypertension, and recurrent urinary tract infections. Awareness of Alstrom Syndrome is lacking despite the complexity and lethality of this disorder. Thus Alstrom Syndrome can be thought of as a rare genetic disorder with several feature similar to metabolic syndrome. It is a rare disease and difficult to make differential diagnosis with other similar syndromes, therefore this case will be a good example of Alstrom Syndrome for the literature.