Wolfram syndrome
Evidence of a diffuse neurodegenerative disease by magnetic resonance imaging
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Abstract
Wolfram syndrome is an autosomal recessive disorder beginning in childhood that consists of four cardinal features: optic atrophy, diabetes mellitus, diabetes insipidus, and neurosensory hearing loss. Aside from these features, the clinical picture is highly variable and may include other neurologic abnormalities such as ataxia, nystagmus, mental retardation, and seizures. We present two unrelated patients with Wolfram syndrome, both of whom had the four cardinal features and several other neurologic abnormalities. MRIs showed widespread atrophie changes throughout the brain, some of which correlated with the major neurologic features of the syndrome.
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