MRI of Wolfram syndrome (DIDMOAD)

Wolfram syndrome (DIDMOAD) is a rare diffuse neurodegenerative disorder cha racterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafnes s, and a wide variety of abnormalities of the central nervous system, urina ry tract and endocrine glands. It may be familial or sporadic. Reported fea tures on MRI of the brain are absence of the physiological high signal of t he posterior lobe of the pituitary, shrinkage of optic nerves, chiasm and t racts, atrophy of the hypothalamic region, brain stem, cerebellum, and cere bral cortex. We report a 12-year-old girl with a 5-year history without bra in stem, cerebellar or cerebral atrophy. MRI showed an unusual feature: a f ocus of high signal on PD- and T2-weighted images in the right substantia n igra. This is consistent with previously reported neuropathological post-mo rtem studies, but has never been reported in vivo.