RT Journal Article
SR Electronic
T1 Wolfram syndrome
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 1220
OP 1220
DO 10.1212/WNL.42.6.1220
VO 42
IS 6
A1 Rando, Thomas A.
A1 Horton, Jonathan C.
A1 Layzer, Robert B.
YR 1992
UL http://n.neurology.org/content/42/6/1220.abstract
AB 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.