Three new cases of Alström syndrome

Abstract

Purpose: To report three further cases of Alström syndrome and to present a review of the literature.

Methods: Three siblings, two brothers and a sister, are described. They had complete ophthalmologic examination with retinography and fluoroscein angiography. They also underwent general and metabolic examination and genetic study.

Results: Alström syndrome is a rare autosomal recessive disorder characterized by atypical retinal pigmentary degeneration, sensorineural hearing loss, obesity, non-insulin-dependent diabetes mellitus, and chronic nephropathy. The diagnosis is based on clinical, biologic (hyperglycemia with hyperinsulinism), and genetic criteria (autosomal recessive disorder on chromosome 2).

Conclusion: Blindness, hearing loss, complications of diabetes, and renal failure confirm the gravity of this syndrome. The prognosis regarding survival is correlated with the severity of renal failure.