Menkes' kinky hair disease. II. A clinicopathological report of three cases

Abstract

The neuropathologic abnormalities in three new cases of Menkes' kinky hair disease are described. Principally the three cases were the same. Hypoplasia of the cerebellum, with a basal arachnoïdal cyst, was present in all three cases. The cysts were not described before in Menkes' disease. There was nerve cell loss and gliosis in the cerebral cortex, cerebellum and thalamus. The reduction of myelinated axons was widespread and the disease does not belong to the leukodystrophies. Cortical lamination disturbances were present indicating that the disease develops as early as the sixth fetal month. Abnormal arborization of Purkinje cells with swelling of dendrites was present and thought not to be identical with the Purkinje cell abnormalities seen in amaurotic idiocy. The difference in severity of the copper deficiency in 2 patients is compared with the situation in "brindled" and "blotchy" mutant mice.