L. Školnik
Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

B. Kosmač
Služba za kardiologijo, Pediatrična klinika, Univerzitetni Klinični center Ljubljana, Ljubljana, Slovenija

S. Vesel
Služba za kardiologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

P. Kotnik
Klinični oddelek za endokrinologijo, diabetes in presnovne bolezni, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Abstract

Alström syndrome, a very rare hereditary autosomal recessive disease, is presented. It is caused by a mutation in the ALMS1 gene, encoding the protein involved in the development of primary cilia and hence the syndrome is classied as a ciliopathy. It is a multisystemic disease. The key features are early obesity, cone-rod retinal dystrophy leading to juvenile blindness, sensorineural hearing loss, dilated cardiomyopathy, early insulin resistance and type 2 diabetes mellitus. Additional features may include endocrinopathies and renal and liver disease.The case of an 11-year-old girl, diagnosed with dilated cardiomyopathy, is presented. The suspected clinical diagnosis of Alström syndrome was nally conrmed by the determination of a mutation in the ALMS1 gene.

Key words: Alström syndrome, syndromic obesity, dilated cardiomyopathy, insulin resistance, ALMS1 gene.