Abstract

Alström syndrome (AS) is a rare complex disorder with an autosomal recessive inheritance pattern and is associated with multiorgan dysfunction. Mutation of the ALMS1 gene, located on chromosome 2p13 has been identified as the cause of AS. The primary cause of mortality in AS is dilated cardiomyopathy and renal failure in affected young and older patients respectively. Here, we report a case of AS in a 13-year-old boy with characteristic features of this rare ciliopathy at our diabetic clinic. He is of Indian origin born to consanguineous parents. His symptoms began at three months of age as visual disturbances. At age 10, he was diagnosed with diabetes and was started on insulin. After further evaluation, truncal obesity, acanthosis nigricans, diminished vision, and mild to moderate sensorineural hearing loss were noted. Based on these clinical criteria he was diagnosed with Alstrom syndrome. Molecular genetic testing was not performed due to financial constraints. No family history of AS was reported. The rarity of the disease with its complexities involving multiple organs may pose difficulty in diagnosis resulting in significant morbidity in affected cases. There is no specific treatment but, only symptomatic management tailored to the individual patient. A coordinated effort by a team of specialists is essential in managing this orphan disease. Our aim is to share the diagnostic guidance in the early detection of such cases to provide better treatment and quality of life.