title: Histopathologic and biochemical analysis of classic Pelizaeus-Merzbacher disease.
abstract: An autopsy study of an 11-year-old boy with the classic type of Pelizaeus-Merzbacher disease is presented. He developed normally until 5 years of age when he began to deteriorate with scanning speech and gait abnormality. Auditory brainstem responses were normally preserved. At the age of 11 years, 8 months, he died of pneumonia while in a vegetative state. The neuropathologic findings suggested a typical classic type of Pelizaeus-Merzbacher disease and biochemical analysis of cerebral white matter demonstrated a decreased ratio of long-chain fatty acids (greater than or equal to C19) to short- and medium-chain fatty acids (less than C19). These findings suggested defective myelin synthesis as the etiology of Pelizaeus-Merzbacher disease; comprehensive classifications of the disease are expected to include both pathologic and biochemical parameters.
authors.affiliation: Department of Pediatrics; Nippon-Kokan Fukuyama Hospital, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Iyoda
authors.forename: J
authors.initials: J
authors.lastname: Tanaka
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Y
authors.initials: Y
authors.lastname: Nagao
authors.forename: S
authors.initials: S
authors.lastname: Ohtahara
mesh_terms: D002648:Child; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D050356:Lipid Metabolism; D008297:Male