Fine structure of the cerebellar cortex in Menkes Kinky-hair disease. X-chromosome-linked copper malabsorption

Abstract

The cerebellar cortices in two patients with X-chromosome-linked copper malabsorption (Menkes kinky-hair disease) were examined with both the light and electron microscope. Somatic sprouts and grotesque dendritic arborization were among the obvious light microscopical changes. At the fine structural level, the Purkinje cells were characterized by the presence of somatic spines although the surviving granule cells had already descended. Most spines were parts of synaptic complexes, but some were unattached to any presynaptic element. Similar spines were also observed on dendritic trunks. Astrocytic gliosis and nonspecific endothelial cell changes were noted.