Ultrastructure of brain and retina in Kufs' disease (adult type-ceroid-lipofuscinosis).

A patient with Kufs' disease (adult type-neuronal ceroid-lipofuscinosis) is reported. He was the brother of the index case reported by Dom et al. [1979]. The diagnosis had been made by skin and skeletal muscle biopsies. The postmortem study of the brain confirmed the diagnosis and revealed a diffuse intraneuronal storage of membrane-bound inclusions with curvilinear, rectilinear and fingerprint profiles. Neurons from the frontal grey matter, the thalamic nuclei, the cerebellar cortex, the dentate nucleus, the substantia nigra and the anterior horns contained such inclusions, as demonstrated by electron microscopy. Because some light microscopic changes had been described in the retina of the brother, a complete ultrastructural examination of the eye was carried out in our patient. Except for signs of storage in the oculomotor muscles and in the smooth muscle cells of the ciliary body, the only ocular signs of storage were found in the retinal ganglion cells. Some of the latter contained inclusions which were quite analogous to the ones found in the neurons of the central nervous system. The pigmented epithelium, the photoreceptors and all the other retinal layers were normal. It is necessary to perform neurophysiological and electron microscopic studies at the retinal level to help clarify the confusion between the protracted and adult types of ceroid-lipofuscinosis since they may chronologically overlap.