Neuropathologic Aspects in Menkes' Kinky Hair Disease (Trichopoliodystrophy) – Menkes' Kinky Hair Disease

Abstract

The neuropathological study of Menkes' kinky hair disease in a 4œ month old child is reported. Pathologically the central nervous system showed two types of changes: symmetrical necrosis of the temporo-occipital lobes brought about by alterations of the large extracranial arteries, basilar artery, intrameningeal and intracerebral vessels and dystrophic lesions predominantly in the cerebellar cortex. The copper deficiency demonstrated by Danks et al. as the basic defect in this disease causes the pathological alterations of the arterial system with consecutive damage to the brain. The changes in the cerebellum appear as primary dystrophic lesions due to the copper deficiency on the nervous system. Ultrastructurally in the body of the Purkinje cell and in its processes a specific intramitochondrial lesion was found. This findings may be considered as the morphologic substrate of the biochemical alterations affecting the mitochondria.