Neuropathology of various types of Niemann-Pick disease.

Abstract

A comparative neuropathological and histochemical study was performed on the brains of seven cases of NPD. In type A (two cases), besides the neuronal storage of SM, a widespread endothelial storage of a neutral glycosphingolipid was found. In one case a pseudosystemic lesion of the pallido-nigral system was observed. In type B (one case) the only finding was the endothelial storage of SM. In type C (four cases) the degree of neuronal storage distension contrasted considerably with a very low amount of lipid demonstrable histochemically in fixed brains. Only in one case, focal neuronal storage of a phosphoglyceride could be proved. However, in peripheral neurons (of unfixed appendix) the phosphoglycerides were clearly predominating (one case). A remarkable and constant finding in each case of the series was a widespread neuroaxonal dystrophy with various topical maxima (thalamus, dentate nuclei). The significance of the findings are discussed in relation to the present status of knowledge of this type.