Abstract
Large hyaline (colloid) inclusions were found, chiefly in the anterior horn cells of a micrencephalic, retarded 5-year-old girl born to related parents. Electron-microscopy showed that the inclusions were protein-filled dilatations of the rough-surfaced endoplasmic reticulum. The relationship of the pathological findings to the clinical state is not clear, and may even be coincidental, but it is suggested that this may represent a storage disease of the neuronal endoplasmic reticulum inherited as an autosomal recessive trait.
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