Resumo

PUERTAS-BORDALLO, D. et al. Alström Hallgren syndrome. Arch Soc Esp Oftalmol [online]. 2007, vol.82, n.10, pp.649-652. ISSN 0365-6691.

Introduction: Alstrom-Hallgren syndrome is an inherited condition in which the transmission of a double dose of a mutated gene leads to specific clinical findings. To the present time there has been only one gene detected which leads to this syndrome, the ALMS1 gene. Mutation of this gene leads to progressive blindness due to photoreceptor dystrophy, progressive sensorineural hearing loss, insulin resistant diabetes, morbid obesity and cardiologic abnormalities. Clinical Case: We present the case of a four-year-old male who, after a cardiopulmonary shutdown in the fourth month of life, was diagnosed with a dilated cardiomyopathy. Nystagmus and photophobia followed, and, after ophthalmologic exploration and an electroretinogram, the results were consistent with Alström syndrome. The appropriate genetic studies were then performed. Discussion: The diagnosis in this case was considered basically because of its uncommon clinical features, and the fact a multidisciplinary approach was used in its evaluation. We were only able to confirm the diagnosis by molecular biology techniques, with this resulting in the correct diagnosis in 25-40% of cases. Treatment is symptomatic and the prognosis extremely variable.

Palavras-chave : Photoreceptor dystrophy; Diabetes Mellitus; Cardiomyopathy; Obesity; ALSM1.

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