ALSTROM Syndrome (Cases Presentation and Review of Literature)
Ayda khalfan Al-Ali, Abdulaziz Al-Kaabi*
Alström syndrome is a rare autosomal recessive disorder characterized by atypical retinal pigmentary degeneration, sensorineural hearing loss, obesity, on insulin dependent diabetes mellitus, and chronic nephropathy. The diagnosis is based on clinical, biological, and genetics criteria (autosomal recessive disorder on chromosome 2). Aim is to present multiple members of the same family showing same systemic and ocular manifestations. All are variants of a rare Syndrome. We want to emphasize that the diagnosis of alstrom's syndrome is often difficult, because not all cardinal features appear initially. Methods include Three siblings, two sisters and one brother, are described. They had complete ophthalmic examination with electrophysiology and fundus photography. They also underwent general and metabolic examination and genetic study.
A diagnosis of AS should be considered in infantile cone and rod retinal dystrophy, particularly if the weight a above the 90th percentile or if there is infantile cardiomyopathy. Early diagnosis may lead to better survival of affected children in special institute and genetic counseling in the case of later pregnancies
