Neuronal Ceroid-Lipofuscinosis

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Abstract
The autopsy material of two brothers suffering of neuronal ceroid-lipofuscinosis was studied histologically, electron microscopically, and neurochemically. The brain of one of the patients was also biopsied during life. There was marked cerebral atrophy with severe neuronal and myelin loss and gliosis. Neurons and astrocytes contained PAS-positive, sudanophilic, acid fast, and autofluorescent pigment. Similar material was deposited also in the Kupffer cells and spleen. In the electron microscope the pigment bodies were rather homogenously granular and membrane-bound. Chemical analyses showed changes in lipid composition, increase in esterified cholesterol and decrease in total cholesterol and total phospholipid values. Ceramides were slightly increased but there was no accumulation of gangliosides. Glycoli-pids containing hexose were increased relatively as well as the proportion of proteins, DNA and RNA. Many lysosomal hydrolases were increased 2–5 times when compared with the controls, suggesting that a primary or secondary lysosomal response was related to the disease. However, no specific enzyme defect was found.

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