Wolfram`s Syndrome
Keywords:
Wolfram`s syndrome, DIDMOAD, Progressive Neurodegenerative DiseaseAbstract
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.
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