Late infantile amaurotic idiocy with multilamellar cytosomes: An electron microscopic study

A 5-year-old boy with onset of seizures at 3 10/12 years of age and progressive dementia, ataxia, visual loss, macular dystrophy, and myoclonus was studied by light and electron microscopy of cerebral biopsy material. Histopathologic examination showed a nonspecific “lipidosis.” Abnormal cytoplasmic...

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Bibliographic Details
Published inThe Journal of pediatrics Vol. 75; no. 2; pp. 253 - 264
Main Authors Elfenbein, I. Bruce, Cantor, Harvey E.
Format Journal Article
LanguageEnglish
Published United States Mosby, Inc 01.08.1969
Subjects
Blood Vessels - pathology
Cerebral Cortex - pathology
Child, Preschool
Cytosol
Histocytochemistry
Humans
Lipidoses - pathology
Lipids - analysis
Lysosomes
Macrophages
Male
Microscopy, Electron
Neuroglia
Neurons
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Summary:A 5-year-old boy with onset of seizures at 3 10/12 years of age and progressive dementia, ataxia, visual loss, macular dystrophy, and myoclonus was studied by light and electron microscopy of cerebral biopsy material. Histopathologic examination showed a nonspecific “lipidosis.” Abnormal cytoplasmic inclusions, termed multilamellar cytosome(s) (MLC), were found in neurons, astrocytes, vascular cells, and macrophages. MLC were tentatively identified as lysosomes. Reported cases showing MLC were reviewed and compared with cases having lipofuscin storage. An empiric classification based on age at onset and type of ultrastructural inclusions is suggested: late infantile amaurotic idiocy with multilamellar cytosomes.
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ISSN:0022-3476
1097-6833
DOI:10.1016/S0022-3476(69)80396-3