The reflection of histology in MR imaging of Pelizaeus-Merzbacher disease

AJNR Am J Neuroradiol. 1989 Jan-Feb;10(1):99-103.

Abstract

Pelizaeus-Merzbacher disease is a rare disease of infants and young children in which there is an arrest of myelination of the CNS. The cause of the disorder is unknown. Three cases are reported, representing the connatal and classical forms of the disease. The MR images obtained of these children are compared with histologic findings as reported in the literature. In the connatal form a complete absence of myelin in the brain is demonstrated. In the classical form an arrest of myelination in an early stage of development is shown in combination with progressive abnormalities of the unmyelinated white matter and possibly a slow degradation of some myelin. MR imaging appears to be a unique diagnostic method for assessing the degree of hypomyelination, the core of Pelizaeus-Merzbacher disease, and for contributing to the understanding of the underlying pathology of this disorder.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Child
  • Diffuse Cerebral Sclerosis of Schilder / diagnosis*
  • Diffuse Cerebral Sclerosis of Schilder / pathology
  • Humans
  • Infant
  • Magnetic Resonance Imaging*
  • Male
  • Myelin Sheath / pathology