[Neuropathological study of Menkes' kinky hair disease: on the mechanism of development of cerebrovascular lesions (author's transl)].

In order to elucidate the mechanism of development of cerebrovascular lesions in Menkes' kinky hair disease (MKHD), the authors examined the brain and its vasculature of an autopsied case of this disease in light and electron microscopy. The gross and light microscopic examinations revealed that focal degeneration including pseudolaminar necrosis of cerebral cortices roughly concentrated on the gyri in and around the Sylvian fissures where tortuous vessels with congestion and dilatation were most prominently present. Despite their conspicuous irregularity in shape of the lumens and in thickness of the walls, the vessels were devoid of significant changes in elastic lamina and intima. In contrast, mitochondrial disease manifested by enlargement and/or rounding of mitochondria with tubular cristae and dense body as well as vacuolar degeneration were noted in various sizes of vessels in endothelial cells, pericytes and medial muscle cells, which exhibited various degrees of degeneration. On the other hand the preliminary observation had disclosed the mitochondrial changes of the same character in the neurons in various structures of this brain, such as Purkinje cells, granule cells, and neurons in cerebral cortex, thalamus and globus pallidus, and even in glial cells. Therefore it seemed reasonable to consider that the mitochondrial disease in MKHD might be ubiquituous in the brain including its vasculature. The observations of various degrees of degeneration of vessel wall cells due to mitochondrial disease and of irregular proliferation of reticulin fibrils in the spaces among degenerated muscle cells of the tunica media may be the evidences responsible for the tortuosity, dilatation and congestion of vessels, which eventually give rise to the vascular lesions in the brain parenchyme in MKHD. The findings of increased numbers of enlarged specific granules in the endothelium of dilated vessels, and dense material accumulation in their perivascular spaces with proliferation of basal lamina may have something to do with dilatation of small vessels and alteration of their blood brain barrier.