Magnetic resonance imaging in Pelizaeus-Merzbacher disease

Neuroradiology. 1987;29(4):403-5. doi: 10.1007/BF00348925.

Abstract

Pelizaeus-Merzbacher's disease is a progressive encephalopathy with demyelination of the cerebral white matter. The diagnosis can not be made on clinical or biological grounds: pathological investigation is necessary to confirm tigroid demyelination. CT scanning failed to visualize this type of anomaly but detection is now possible with the advent of magnetic resonance imaging (MRI). The authors studied the case of a boy who, at the age of 8 presented with symptoms characteristic of the disease: rotatory nystagmus, progressive encephalopathy, and inherited X-linked recessive traits. Magnetic resonance imaging revealed a high signal in the supra- tentorial white matter and the usual contrast was inverted. The authors believe that MRI can make an important contribution to the diagnosis of the disease.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Child
  • Diffuse Cerebral Sclerosis of Schilder / diagnosis*
  • Diffuse Cerebral Sclerosis of Schilder / genetics
  • Humans
  • Magnetic Resonance Spectroscopy*
  • Male
  • Pedigree