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.