Structural and chemical alterations in the cerebral maldevelopment of fetal cerebro-hepato-renal (Zellweger) syndrome.
The cerebra of four abortuses (estimated gestational age 14-22 weeks), diagnosed as cerebro-hepato-renal (Zellweger) syndrome in utero, were examined morphologically with light microscopic, immunocytochemical and ultrastructural techniques and biochemically with gas liquid chromatographic assays for cholesterol ester fatty acids and plasmalogens. Centrosylvian architectonic abnormalities consisting, in part, of thin cortical plates and broad subcortical heterotopic zones were found in all abortuses. Astrocytes, neuroblasts, immature neurons and radial glia contained abnormal pleomorphic cytosomes, presumably of variable lipid composition. The same areas exhibited increases in cholesterol ester very long chain fatty acids and decreased plasmalogens. A pathogenetic hypothesis, proposing that regional tissue constraints act in concert with a peroxisomal-derived biochemical abnormality to impede centrosylvian neuronal migration, is discussed.
Powers
J M
JM
Department of Pathology, Medical University of South Carolina, Charleston.
Tummons
R C
RC
Caviness
V S
VS
Moser
A B
AB
Moser
H W
HW
D000326:Adrenoleukodystrophy / Q000473:pathology; D001253:Astrocytes / Q000473:pathology; D001921:Brain / Q000002:abnormalities / Q000196:embryology* / Q000473:pathology; D001923:Brain Chemistry; D002788:Cholesterol Esters / Q000032:analysis; D002849:Chromatography, Gas; D003593:Cytoplasm / Q000032:analysis; D005227:Fatty Acids / Q000032:analysis; D005865:Gestational Age; D006801:Humans; D007150:Immunohistochemistry; D008854:Microscopy, Electron; D009457:Neuroglia / Q000473:pathology; D009474:Neurons / Q000473:pathology; D010955:Plasmalogens / Q000032:analysis; D015211:Zellweger Syndrome / Q000473:pathology*
D002788:Cholesterol Esters; D005227:Fatty Acids; D010955:Plasmalogens