Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies

Morphological and biochemical data are given on brain biopsy or autopsy samples from 13 patients with a progressive encephalopathy, characterized clinically by the onset of rapid psychomotor deterioration at about 1 year of age, early amaurosis, and absence or relative paucity of convulsions.The main morphological feature was very severe neuronal destruction, accompanied by a massive occurrence of frequently binucleated phagocytes and unusually hypertrophic fibrillary astrocytes in the cerebral cortex. The remaining neurons and glial cells contained excessive amounts of autofluorescent granules with the staining properties of lipofuscin, and with strong acid phosphatase activity. The homogeneous granular ultrastructure of the storage material differed both from ordinary neuronal lipofuscin and from the storage material in most previous reports on so-called neuronal ceroid-lipofuscinosis. Biochemically the biopsy samples were characterized by a decrease in lipid-bound N-acetylneuraminic acid.Thus, the unusual but uniform clinical, morphological and biochemical findings in our series of 13 patients differ from the findings in previously recognized types of amaurotic idiocy. These 13 patients—and possibly some others collected from the literature—appear to constitute a clearly separable group; the relationship of this condition to various forms of neuronal ceroid-lipofuscinosis is discussed.