An autopsy case of adult neuronal ceroid lipofuscinosis

This is a report of an autopsy case (45-year-old woman) of adult neuronal ceroid lipofuscinosis with a long-lasting course of 25 years. In the course of her illness, gait disturbance, bulbar palsy and dementia were observed. Pathologically severe neuronal loss and hemosiderin-like granules were found in the cortex, basal nuclei, thalamus and others. The residual cells of these tissues were swollen with lipofuscin-like pigments. The extremely swollen nerve cells were found in the anterior horn of the spinal cord. Electron microscopically, numerous curvilinear bodies, myelin figures and fingerprint profiles were seen in those cytoplasms. Ceroid and lipofuscin were proven by a histochemical examination.