A Rare Syndromic Report of a Young Patient with Type 2 Diabetes Mellitus: Alstrom Syndrome

Abstract

Alström syndrome is a rare multi-system congenital disorder with varied phenotypic presentations, including obesity, early-onset blindness, hearing loss, and various cardiac and renal manifestations. We discuss a case of a young male who presented with Type 2 Diabetes Mellitus (T2DM) and dyslipidemia, with a history of blindness and hearing loss since childhood. His family history was significant, with three prior sibling deaths. Genetic evaluation confirmed the diagnosis of Alström syndrome. He did not have obesity or any cardiovascular complications. The rest of the systemic examination and blood work were normal. This case is noteworthy as it represents one of the few variants of Alström syndrome without obesity. Early diagnosis and management are crucial for these patients to prevent avoidable complications and improve their quality of life.