Alström Syndrome: first case reported in Argentina
Abstract
Alström Syndrome is a rare autosomal recessive inherited disorder (approximately 450 cases known worldwide) characterized by multiorgan involvement. The clinical features include: retinal pigmentary degeneration, obesity during childhood, bilateral neurosensorial hearing impairment, hyperinsulinemia, insuline resistance and Non Insuline Dependent Diabetes Mellitus, dislipemia, hepaticdysfunction, chronic obstructive pulmonary disease, dilated cardiomyopathy and renal failure. We present here a 21 years old female, whose genetic tests have shown normalkaryotype (46 xx) and mutation analysis is underway. This is the first case reported in Argentina, and the first,to our knowledge, presenting with nephrocalcinosis.References
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