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Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-55648

RESUMO

Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized iron accumulation in the brain, and it is caused by mutations of the C2orf37 gene. We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. We examined the index patient presenting with movement disorders and mental retardation and then searched for similar cases in her family, which identified a sister with similar signs. We performed a genetic study that confirmed the diagnosis and revealed a c.436delC mutation of the C2orf37 gene. Therefore, WSS is an important consideration in patients presenting with movement disorders and intellectual disability. A high consanguinity contributes to the clustering of such rare autosomal recessive syndromes.


Assuntos
Alopecia , Encéfalo , Consanguinidade , Diabetes Mellitus , Diagnóstico , Distonia , Humanos , Hipogonadismo , Deficiência Intelectual , Ferro , Transtornos dos Movimentos , Doenças Neurodegenerativas , Fenótipo , Irmãos
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