Light microscopic and ultrastructural study on CNS lesions in infantile Gaucher's disease

We report on the light microscopic and ultrastructural CNS findings and the clinical course in a boy with infantile Gaucher's disease who died at 6 1/2 months. Besides the morphological alterations described in the literature, like perivascular Gaucher cells and nerve cell loss, our case was characterized by an unusually extensive proliferation of GFAP-positive astrocytes in the vicinity of stored material but also in regions where no storage was detected. Electron microscopy revealed massively enlarged lysosomes in the storage cells. The lysosomes showed twisted tubular structures, some of them penetrating the outer membrane. Isolated tubules were found to lie free in the cytosol. These tubules correspond to stored crystallized glucocerebroside molecules, which are most stable in this twisted arrangement.