EARLY LESION OF PELIZAEUShyphen;MERZBACHER DISEASEELECTRON MICROSCOPIC AND BIOCHEMICAL STUDY

摘要

Ultrastructural and biochemical studies on the cerebral biopsy of a 3-month-old male with a clinical diagnosis of Pelizaeus-Merzbacher disease revealed normal myelin sheaths but characteristic alterations in the oligodendrocytes. They displayed unique vacuoles with concentric lamellae in the perikarya and numerous myelin balls in the terminal processes. Very few macrophages containing non-specific sudanophilic lipids were encountered. Cerebroside concentration and several acid hydrolases were normal. The above findings differed distinctly from those obtained on a previous unrelated case of Pelizaeus-Merzbacher disease (35). It remains unknown whether these differences are an expression of genetic heterogeneity.