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October 1971

The Central Nervous System in Fabry's Disease: A Clinical, Pathological, and Biochemical Investigation

Author Affiliations

Gentofte, Denmark; Aarhus, Denmark
From the Department of Neurology, Gentofte Hospital, Gentofte, Denmark (Dr. Lou), and Department of Neuropathology, Municipal Hospital of Aarhus, University of Aarhus, Aarhus, Denmark (Dr. Reske-Nielsen).

Arch Neurol. 1971;25(4):351-359. doi:10.1001/archneur.1971.00490040077009

Clinical neurological and neuropathological studies were made in two cases of Fabry's disease and a neurochemical investigation in one. The course of the cerebral disorder consisted of sudden events and more gradual progression of cerebral dysfunction. Electroencephalography showed focal and diffuse abnormalities; angiograms and cerebral blood flow were normal. The cerebral metabolic rate of oxygen was decreased. Neuropathological studies showed abnormal deposits with staining properties as glycolipid in endothelial cells, smooth muscle cells, macrophages, and in arachnoidal cells. Diffuse and focal secondary changes were seen in the brain parenchyme. Thin-layer chromatography demonstrated traces of an abnormal fraction with Rf value as trihexose ceramidein cortex. Thin-layer chromatograms of myelin sphingolipids and the ganglioside pattern were normal. Determinations of lipid-bound hexose showed a fivefold increase in microsomes and normal values in myelin.