MRI of Wolfram syndrome (DIDMOAD)

Neuroradiology. 1999 Oct;41(10):729-31. doi: 10.1007/s002340050832.

Abstract

Wolfram syndrome (DIDMOAD) is a rare diffuse neurodegenerative disorder characterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and a wide variety of abnormalities of the central nervous system, urinary tract and endocrine glands. It may be familial or sporadic. Reported features on MRI of the brain are absence of the physiological high signal of the posterior lobe of the pituitary, shrinkage of optic nerves, chiasm and tracts, atrophy of the hypothalamic region, brain stem, cerebellum, and cerebral cortex. We report a 12-year-old girl with a 5-year history without brain stem, cerebellar or cerebral atrophy. MRI showed an unusual feature: a focus of high signal on PD- and T2-weighted images in the right substantia nigra. This is consistent with previously reported neuropathological post-mortem studies, but has never been reported in vivo.

Publication types

  • Case Reports

MeSH terms

  • Atrophy
  • Brain Stem / abnormalities
  • Brain Stem / pathology*
  • Cerebral Cortex / abnormalities
  • Cerebral Cortex / pathology*
  • Child
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Wolfram Syndrome / diagnosis*