Alstrom syndrome – a diagnosis revisited

Abstract

Carl Henry Alstrom first described the syndrome in 1959.¹ It is a rare autosomal recessive, single gene, multi system disorder characterised by early onset retinal (progressive cone rod) dystrophy with profound visual loss, childhood obesity with insulin resistance, hyperinsulinaemia and diabetes, sensorineural hearing loss, dilated cardiomyopathy as well as progressive renal and hepatic dysfunction. We present a case of Alstrom syndrome diagnosed in a 34 year old male subject followed by a brief review of its clinical presentation