New Alström Syndrome Phenotypes Based on the Evaluation of 182 Cases

Abstract

Alström syndrome (Online Mendelian Inheritance in Man [OMIM] 203800) is a rare (approximately 300 cases known) autosomal recessively inherited disorder that affects multiple organ systems.^1-3 Patients develop early retinal pigmentary degeneration that leads to blindness and sensorineural hearing deficits. Metabolic disturbances begin in childhood and include severe insulin resistance; hyperinsulinemia; type 2 diabetes mellitus, truncal obesity; hypogonadism in males; hypertriglyceridemia; hypothyroidism; accelerated skeletal maturity that results in short stature, scoliosis, or kyphosis; and low growth hormone levels. Multiple organ failure, including dilated cardiomyopathy (DCM) and congestive heart failure (CHF), and hepatic or renal failure may occur. Clinical expression, onset, rate of progression, and severity of most of the features are variable, even within sibships.⁴ Delayed diagnosis and misdiagnosis are common, making estimates of the incidence of Alström syndrome difficult.⁵