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Revista Clínica de Medicina de Familia

On-line version ISSN 2386-8201Print version ISSN 1699-695X

Abstract

ESTEBAN BUENO, Gema; RUANO GARCIA, Mónica; GRANDES VELASCO, Sonia  and  VILLAR GOMEZ DE LAS HERAS, Karina. A family with Wolfram syndrome. Rev Clin Med Fam [online]. 2013, vol.6, n.1, pp.54-57. ISSN 2386-8201.  http://dx.doi.org/10.4321/S1699-695X2013000100011.

Wolfram syndrome or DIDMOAD is a complex condition whose main components are diabetes mellitus, diabetes insipidus, optic atrophy and deafness. Other problems are also associated with varying frequency. It is a pathology which is considered to be rare due to its low prevalence and psycho-social repercussions. It occurs during childhood and is degenerative and progressive. It is generally associated with autosomal recessive transmission. As an example of this syndrome, we report the case of a family of three affected siblings.

Keywords : Wolfram syndrome; Optic atrophy; Diabetes Mellitus; Rare diseases.

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