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.