Autosomal recessive form of connatal Pelizaeus-Merzbacher disease

Am J Med Genet. 1989 Jul;33(3):311-3. doi: 10.1002/ajmg.1320330305.

Abstract

We report on a brother and sister with the connatal form of Pelizaeus-Merzbacher disease. This rare degenerative disease of white matter is reported to be transmitted as an X-linked recessive with an occasional affected female. Some authors have suggested that an autosomal recessive form exists. When this family is analyzed with other families in the literature, both X-linked and autosomal recessive inheritance must be considered.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child, Preschool
  • Chromosomes
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Diffuse Cerebral Sclerosis of Schilder / pathology
  • Female
  • Genes, Recessive*
  • Humans
  • Infant
  • Male
  • Sex Chromosome Aberrations*