Wolfram`s Syndrome

• Autor(a) principal: Lopes, Alexandra
• Data de Publicação: 2006
• Outros Autores: Azinhais, Paulo, Coucelo, João, Miraldo, Manuel
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://revista.spmi.pt/index.php/rpmi/article/view/1631
• topic: Síndroma de Wolfram; DIDMOAD; doença neurodegenerativa progressiva; Wolfram`s syndrome; DIDMOAD; Progressive Neurodegenerative Disease

Wolfram`s syndrome is a rare genetic disease with autossomal recessive transmission or linked with mithocondrial DNA, characterized by the association of diabetes mellitus and optical atrophy. Other classical manifestations of the disease are central diabetes insipidus and neurosensorial deafness. This is a progressive and degenerative disease with a mean life survival of 35 years.The authors report the case of a patient with Wolfram`s syndrome manifested by the onset during childhood of diabetes mellitus, central diabetes insipidus, optical atrophy and subsequently neurosensorial deafness. A review of the genetic knowledge, epidemiology, clinical manifestations, diagnostic methods and follow-up of this disease is made and the lack of specific treatment at present is highlighted.