Ceroid-lipofuscinosis. Report of two autopsy cases.

Light and electron microscopic examinations were performed on two autopsy cases of ceroid-lipofuscinosis of the juvenile (Case 1) and late infantile (Case 2) types. Much ceroid-lipofuscin (CL) was found in nerve cells throughout the nervous system. In Case 1, CL had also accumulated in thyroid follicular cells, glomerular podocytes, and epithelial cells of the ductus epididymidis, and in the endothelium and smooth muscle of vessels. Electron microscopy showed CL in 5% of peripheral lymphocytes sampled when the patient was alive. In Case 2, an accumulation of CL was found in the vascular endothelial cells of the cerebrum, and Kupffer cells and sinusoidal endothelial cells of the liver. The CL was autofluorescent, and was seen to be composed of electron-dense granules, lipid droplets, lamellar structures, and curvilinear bodies by electron microscopy. Limiting membranes were often found surrounding CL granules. The dolichol level in the cerebral cortex was high in Case 1. Accumulation of CL was found in cells other than nerve cells, although the main signs and symptoms were caused by the involvement of nerve cells. The CL showed various ultrastructural features.