Histopathologic and biochemical analysis of classic Pelizaeus-Merzbacher disease.
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.
Iyoda
K
K
Department of Pediatrics; Nippon-Kokan Fukuyama Hospital, Japan.
Tanaka
J
J
Suzuki
Y
Y
Nagao
Y
Y
Ohtahara
S
S
D002648:Child; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D050356:Lipid Metabolism; D008297:Male