Additional electron microscopic observations on two cases of Batten-Spielmeyer-Vogt disease (Neuronal ceroid-lipofuscinosis)

Electron microscopic, histochemical and neurochemical studies on two cases of Batten-Spielmeyer-Vogt disease (juvenile amaurotic familial idiocy) are presented. In the first case, with the clinical onset at the age of 3 years, cytoplasmic neuronal and glial inclusions consisted of membranous bodies, the membranes of which were frequently paired. The fine structure of these inclusions was unaltered when examined in autopsy material 6 months later. In case 2, with the clinical onset at 4 years and 4 months, the inclusions were more pleomorphic: they were usually more electron-dense, and frequently showed a characteristic "fingerprint" pattern component. A few membranous inclusions resembling those in case 1 were also present. Additional findings included marked cytoplasmic hypertrophy of inclusion-containing cortical astrocytes, and frequent cytoplasmic cilia, basal bodies, and nuclear bodies in the hypertrophic astrocytes. A packet of intranuclear filaments was found in one neuron. Neurochemical studies failed to reveal any abnormality of lipid or protein pattern in case 1, or of ganglioside pattern in case 2. Despite the morphological differences between the two types of cytoplasmic inclusions, the presence of both types within the same case suggests that they may represent different stages in the evolution of a single process. It is conceivable that such differences are related to the age of the neuron when the postulated intracellular defect first becomes manifest.