Autosomal recessive form of connatal Pelizaeus‐Merzbacher disease

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.