Niemann-Pick disease type C with enhanced glycolipid storage

A case of infantile neurovisceral disease was classified according to the morphological and chemical analysis of fixed tissue as a chemically different type of Niemann-Pick disease (NPD) type C, with glycolipids dominating the storage process. The diagnosis was reached on the basis of massive accumulation of neutral glycolipids in visceral storage elements (hepatocytes and macrophages) as an outstanding feature of lipid histochemistry. Chemical lipid analysis corroborated the findings by detecting a manyfold increase of glucosyl ceramide, lactosyl ceramide, ceramide trihexoside and GM₃ ganglioside. In addition, macrophages contained variable quantities of sphingomyelin. The brain showed slightly increased quantities of lactosylceramide (Slower fraction) and glucosyl ceramide. Apart from the classical neuronal storage changes there was also marked neuroaxonal dystrophy. In terms of quality, the glycolipid spectrum was comparable to that of NPD type C, in terms of quantity, the changes were consistent with those in so-called lactosyl-ceramidosis, which, however, was reclassified as NPD type C only recently. In our view, the present case is the second published observation of lactosylceramidosis classifiable as a glycolipid (GL) variety of NPD type C in which the normally considerable tendency to glycolipid storage is further enhanced while the storage of sphingomyelin is less expressed.