ISSN:
1432-0533
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary Two children, from different families, were abnormal from birth and later showed signs of a rapid mental and physical deterioration, death occurring at 4 1/2 years and 1 1/2 years respectively. Neuropathological examination revealed closely similar changes in both brains. There was severe demyelination in the cerebellar white matter and in the brain stem where certain tracts were particularly involved. The cerebral hemispheres were less affected, but the centrum ovale showed a mild, diffuse pallor of myelin staining, accompanied by fibrous gliosis, and in both cases the visual pathways were conspicuously demyelinated. In the degenerated white matter of the cerebellum the larger vessels were surrounded by dense rings of histiocytes containing an insoluble P.A.S.+ve, nonmetachromatic lipid, and similar material was present in microglial cells free in the tissues. No multinucleated globoid cells or epitheliod cell packets, as in Krabbe's disease, were seen. Sudanophil fat granule cells were numerous in areas of recent demyelination in the first case, but were scanty in the second. The destruction of axis cylinders varied considerably, but except in some of the degenerated long tracts, the loss was rarely commensurate with the demyelination. Fibrous gliosis also varied in intensity and was more marked in the younger case. An important point of distinction from Krabbe's disease was the presence of neuronal lipidosis in the brain stem of both cases, and in the dentate nucleus of the first case. These affected nerve cells contained P.A.S.+ve lipid similar to that found in the histiocytes. There was evidence of malformation in the first case in the form of megalencephaly and symmetrical polymicrogyria of the insula and parietal operculum. Chemical analysis of the white matter confirmed the demyelination observed histologically both in the severely affected cerebellum and in the less affected cerebral hemispheres. Lipid hexosamine was not significantly increased. These cases appear to represent a hitherto unrecognised form of leucodystrophy.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00685995
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