Assessment of Neuroradiological Features of Wolfram Syndrome (DIDMOD)

The WOLFRAM syndrome is a rare hereditary neurodegenerative disorder described for the first time in 1938 as the coexistence of a diabetes mellitus and optic atrophy to which join frequently a diabetes insipidus and a bilateral deafness. Here we report cranial MRI findings in a 20 year old patient who presented with diabetes mellitus, decreased visual loss since 3 years with progressive loss of hearing since 6 months. We reviewed the brain MR images to determine the frequency and characteristics of common neuroradiologic findings. Imaging findings include absence of the normal high signal of the neurohypophysis, atrophy of visual pathways, the brainstem, cerebellum and cerebral cortex and abnormal signal changes in pons.