Characteristic findings of alstrom syndrome with a case report

Fatma Silan, Savas Gur, Laliz Esin Kadioglu, Sinem Atik Yalcintepe, Kubilay Ukinc, Ahmet Uludag, Ozturk Ozdemir

Children’s Health and Diseases Department, School of Medicine, Canakkale on Sekiz Mart University, Canakkale, Turkey.
Endocrinology Department, School of Medicine, Canakkale on Sekiz Mart University, Canakkale, Turkey.
Internal Medicine Department, School of Medicine, Canakkale on Sekiz Mart University, Canakkale, Turkey.
Medical Genetics Department, School of Medicine, Canakkale on Sekiz Mart University, Canakkale, Turkey.

DOI: 10.4236/ojcd.2013.33014                

Abstract

Alstrom Syndrome is an autosomal recessive genetic disorder affecting multiple systems. The characteristic features of this syndrome are obesity, type 2 diabetes mellitus, rod-cone dystrophy, hearing loss. Developmental delay, nistagmus, dilated cardiomyopathy, hypertension, recurrent pulmonary infections, short stature, hepatic and renal failure endocrine abnormalities are other clinical features of this syndrome. Here we report on a case with Alstrom Syndrome at the age of thirteen. He was referred to medical genetics clinic from endocrinology where he has been watched because of obesity, type 2 diaibetes mellitus and hypogonadism. His parents were first degree relatives. He was also 95% blind and had hearing loss. When we looked up these findings with a clinical diagnosis we thought about Alstrom Syndrome. It is a rare disease and difficult to make differential diagnosis with other similar syndromes, therefore this case will be a good example of Alstrom Syndrome for the literature.

Keywords

Alstrom Syndrome; Obesity; Hearing Loss

Conflicts of Interest

The authors declare no conflicts of interest.

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