Leptomeningeal lipid storage patterns in Fabry disease.
We found two patterns of leptomeningeal storage that reflect two basic visceral storage patterns in Fabry disease. (i) A generalized-type leptomeningeal storage pattern, affecting all main leptomeningeal cell types (external arachnoideal epithelium, fibroblasts, vessel wall elements), was a consistent finding in three cases of classical generalized visceral phenotype. (ii) A localized leptomeningeal storage pattern was expressed, to a high degree, solely in the external arachnoidal epithelium; this pattern was found in one case with the variant visceral-restricted-type storage (confined to the cardiocytes). Thus, the external arachnoidal epithelium may be particularly susceptible to Fabry lipid storage, probably caused by a distinctly larger sustained lysosomal lipid load as compared to other cell types.
Elleder
M
M
1st Institute of Pathology, School of Medicine, Charles University, Prague, Czech Republic.
Christomanou
H
H
Kustermann-Kuhn
B
B
Harzer
K
K
D000368:Aged; D001099:Arachnoid / Q000378:metabolism* / Q000473:pathology*; D004848:Epithelium / Q000378:metabolism / Q000473:pathology; D000795:Fabry Disease / Q000473:pathology*; D006801:Humans; D050356:Lipid Metabolism; D008297:Male