Autosomal recessive form of connatal Pelizaeus-Merzbacher disease.
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.
Begleiter
M L
ML
Division of Genetics, Children's Mercy Hospital, Kansas City, Missouri 64108.
Harris
D J
DJ
D002675:Child, Preschool; D002875:Chromosomes; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D012729:Sex Chromosome Aberrations