Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome

Neuropathological examination of three males with cerebro-hepato-renal (Zellweger) syndrome (CHRS) revealed selective neuronal lipidosis and neuroaxonal dystrophy of the dorsal nucleus of Clarke and lateral cuneate nucleus. This lipidotic alteration was visualized as perikaryal or axonal enlargement...

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Bibliographic Details
Published inActa neuropathologica Vol. 73; no. 4; p. 333
Main Authors Powers, J M, Tummons, R C, Moser, A B, Moser, H W, Huff, D S, Kelley, R I
Format Journal Article
LanguageEnglish
Published Germany 1987
Subjects
Adrenoleukodystrophy - pathology
Axons - pathology
Brain - pathology
Brain Diseases - congenital
Brain Diseases - embryology
Cell Movement
Humans
Infant
Infant, Newborn
Kidney Diseases - congenital
Lipidoses - pathology
Liver Diseases - congenital
Male
Microscopy, Electron
Syndrome
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Summary:Neuropathological examination of three males with cerebro-hepato-renal (Zellweger) syndrome (CHRS) revealed selective neuronal lipidosis and neuroaxonal dystrophy of the dorsal nucleus of Clarke and lateral cuneate nucleus. This lipidotic alteration was visualized as perikaryal or axonal enlargements with cytoplasmic striations. With the light microscope, the striated material was birefringent and resistant to traditional lipid stains; ultrastructurally, it was composed of lipid clefts, lamellae and lamellar-lipid profiles; biochemically, the affected region contained large amounts of cholesterol esterified to very long-chain fatty acids, both saturated and monounsaturated. This metabolic lesion, though localized to specific sensory neurons, suggests that a more generalized defect in neuronal fatty acid metabolism may be operative in CHRS.
ISSN:0001-6322
DOI:10.1007/BF00688256