Three new cases of Alström syndrome.
OBJECTIVE
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).


CONCLUSIONS
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.
Department of Ophthalmology, Hôpital Nord, chemin des Bourellys, 13015 Marseille, France.
Corinne
C
Benso
Eve
E
Hadjadj
John
J
Conrath
Danièle
D
Denis
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009765:Obesity / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome