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Menkes kinky-hair disease. A report on its pathology

par Martin, Jean-Jacques ;Flament Durand, Jacqueline ;Farriaux, Jean Pierre;Buyssens, Norbert ;Ketelbant Balasse, Paule ;Jansen, Casper
Référence Acta Neuropathologica, 42, 1, page (25-32)
Publication Publié, 1978-02

Article révisé par les pairs

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Résumé :

Two cases of Menkes disease belonging to different families are reported in order to illustrate different types of central nervous system involvement. In the first case which documents the sex-linked recessive inheritance, arteriographic studies have shown that the vascularization of the brain was severely impaired. Postmortem examination revealed lesions of the elastic membranes of large and medium calibre arteries, widespread and extremely severe necroses of grey and white matter with relative sparing of the territories irrigated by the vertebro-basilar system. The dendritic tree of the Purkinje cells was atrophied, somal sprouts were not found. Electron microscopy showed the mitochondria to be morphologically normal. In the second case, there was a bilateral demyelination predominating in the temporal lobes' white matter while arterial alterations and anoxic lesions were present but less prominent. The Purkinje cells were normal. Considering the role of copper as a co-factor for different enzymes, it is possible to explain many features of Menkes disease on the basis of a lack of copper (Danks et al., 1972a, b). Multiple elements play a role in the pathogenesis of the C.N.S. lesions: some alterations, such as the parenchymatous necroses, depend from circulatory disturbances related to arterial abnormalities; others, such as the demyelination, the dystrophic features etc., could be linked to various enzymatic deficiencies susceptible to interfere with postnatal myelination and differentiation of cell membranes as illustrated by the study of spontaneous and experimental animal diseases. © 1978 Springer-Verlag.