Infantile neuroaxonal dystrophy (Seitelberger's disease). A light and ultrastructural study

The findings in a case of infantile neuroaxonal dystrophy are presented. Light microscopy shows wide distribution of spheroids, cerebullar atrophy and striatal degeneration. Electron microscopy shows numerous spheroids consisting of tubulo-vesiculo-membranous profiles. The dystrophic changes appear first in the axon seem to be modified by axostasis and/or transneuronal degeneration in addition to the dystrophic changes. The participation of the endoplasmic reticulum and microtubules in spheroid formation and their relation to the malformation of the synaptic vesicles have been discussed. Diverse mitochondrial abnormalities and Hiranolike body are also described.