Takashima S, Houdou S, Kamei J, Hasegawa M, Mito T, Suzuki Y, Maeda K
Division of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry, Kodaira.
No To Hattatsu. 1992 Mar;24(2):186-93.
Neuropathology of peroxisomal disorders showed polymicrogyria in the cerebral and cerebellar cortices, neuronal heterotopia in the cerebral white matter, dysplasia of the inferior olivary nucleus and subependymal cyst in 6 cases of Zellweger syndrome (ZS), and diffuse loss of myelin sheath and mild polymicrogyria in a case of neonatal adrenoleukodystrophy. Developmental immunohistochemistry of catalase, acyl-CoA oxidase and ketoacyl-CoA thiolase revealed that positive reaction appears with neuronal and glial maturation. Diffuse dysmyelination may be related to maldevelopment of oligodendroglia, and migration disorder to abnormality of endothelial cells or radial glia, because both cells were positively stained in fetuses of 20 weeks of gestation and endothelial cells were rarely stained in ZS.
6例脑肝肾综合征（ZS）患者的大脑和小脑皮质出现多小脑回，大脑白质存在神经元异位，下橄榄核发育异常以及室管膜下囊肿；1例新生儿肾上腺脑白质营养不良患者出现弥漫性髓鞘脱失和轻度多小脑回。过氧化氢酶、酰基辅酶A氧化酶和酮酰辅酶A硫解酶的发育免疫组化显示，阳性反应随神经元和神经胶质细胞成熟而出现。弥漫性脱髓鞘可能与少突胶质细胞发育不良有关，而迁移障碍与内皮细胞或放射状胶质细胞异常有关，因为在妊娠20周的胎儿中这两种细胞均呈阳性染色，而在脑肝肾综合征中内皮细胞很少被染色。
