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Case Reports
. 2009 Feb 15;149A(4):666-8.
doi: 10.1002/ajmg.a.32730.

Caloric restriction in Alström syndrome prevents hyperinsulinemia

Ni-Chung Lee  1 , Jan D Marshall, Gayle B Collin, Jürgen K Naggert, Yin-Hsiu Chien, Wen-Yu Tsai, Wuh-Liang Hwu
Affiliations
Case Reports

Caloric restriction in Alström syndrome prevents hyperinsulinemia

Ni-Chung Lee et al. Am J Med Genet A. .

Abstract

Alström syndrome (AS; OMIM 203800) is an autosomal recessive disorder characterized by cone-rod dystrophy, dilated cardiomyopathy, sensorineural hearing impairment, developmental delay, and most case had both childhood-onset obesity and hyperinsulinemia. Currently, the pathogenesis of this disease is not clear. Here we report on an 18-month-old boy with Alström syndrome. He had obesity but with normal insulin and glucose levels. Molecular analysis of the ALMS1 gene revealed a 19 base pair homozygous deletion 11116_11134del in exon 16. His body mass index decreased from 25.0 to 20.7 after calorie restriction for 9 months, and his insulin and glucose levels remained normal. Finding in this case suggests that hyperinsulinemia is a secondary event in Alström syndrome, and early-commenced treatment prevents hyperinsulinemia.

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