Krabbe's disease with giant lamellar bodies in Purkinje cells

Abstract

An autopsy case of Krabbe's disease in a child aged 6 years 7 months 1s reported. Histologically, globoid cells, loss of myelin, oligodendroglia and axons, and marked gliosis were observed in the white matter. In addition, there was severe neuronal loss in the thalamus, pontine nucleus, dentate nucleus and olivary nuclei. The cerebellar cortex showed extensive loss of granular cells and moderate loss of Purkinje cells. There were numerous eosinophilic inclusion bodies, ranging from 2 to 15 microns in diameter, in the dendrites of Purkinje cells. The ultrastructural findings for the inclusion bodies were consistent with those of giant lamellar bodies. In addition, smaller lamellar bodies were frequently observed in the perikarya and dendrites. Although loss of granular cells was more prominent in the hemispheres than in the vermis, the inclusion bodies were observed in hemispheres but were infrequently observed in the vermis. They were found in degenerated Purkinje cells which had lost afferent fibers. It is considered that these giant lamellar body inclusions are an unusual type of degenerative structure specific to Purkinje cells.