Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome

Abstract

Wolfram syndrome is a rare neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD). A wide spectrum of abnormalities of the central nervous system, urinary tract and endocrine glands is also observed. We report cranial MRI findings in a 32-year-old female patient with Wolfram syndrome. In addition to the classical features, including absence of the normal high signal of the neurohypophysis, atrophy of visual pathways, the brainstem, cerebellum and cerebral cortex, we observed bilateral hyperintensity on proton density- and T2- weighted images related to the optic radiations in the periventricular white matter of the temporal and parieto-occipital lobes, which may reflect gliosis pathologically.

Primary diagnosis of Wolfram syndrome in an adult patient — Case report and description of a novel pathogenic mutation

“…The MR imaging data obtained in this patient provide an insight into the neurodegenerative processes causative of WS. In line with previous findings [7][8][9][10][11] we found severe atrophy of the brainstem, cerebellum, optic nerve and optic chiasm. In addition we recognized atrophy of the corpus callosum and the caudate head which had not been reported in WS patients before.…”

Wolfram Syndrome: Case Report and Review of the Literature

“…Reported MRI findings included atrophy of the cerebellum, brainstem, and cerebral hemispheres with a dilated ventricular system and prominent cortical sulci (17). Pakdemirli et al (18) showed typical MRI findings, including absence of high signal of the neurohypophysis, thinning of left optic nerve, optic chiasm and tracts, and atrophy of the brain stem, vermis, and cerebral cortex. Cranial MRI of our case revealed thinning of the optic nerve and thinning and localized atrophy of optic chiasm and optic tracts.…”

Neurologic features and genotype‐phenotype correlation in Wolfram syndrome

“…17 Symmetrical periventricular white-matter lesions, limited to the area of the optic radiation and corresponding to global involvement of the optic pathway, have already been reported. 19 In our cohort, abnormalities of white matter were noted in 4 adult patients (30%, n ¼ 4/13). In 2 cases, periventricular white-matter hyperintensities corresponded to the features previously described (see Fig 3D) but 2 patients had diffuse leukoencephalopathy that has never been reported in WS (see Fig 3E).…”