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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The brain of an autopsy case of Menkes' kinky hair disease (MKHD), after routine histological examination, was studied extensively by electron microscopy, particularly the mitochondrial alteration. There were widespread mitochondrial abnormalities, including enlargement with tubulo-vesiculated cristae, swelling, and dense body formation and occasional accumulation of glycogen within mitochondria, in addition to increased numbers of mitochondria in some neurons. These abnormalities of mitochondria were present in decreasing severity in the following: Purkinje cells, neurons of the molecular and granule cell layers of the cerebellum, and neurons of the cerebral cortex, globus pallidus, lateral nuclei of the thalamus, caudate nucleus, and the myelinated axons in the white matter. This distribution and the degree of mitochondrial abnormalities in the various structures of the brain were compared with those of degenerative lesions in the respective structures. The comparison disclosed that there was a positive correlation between the two. The mitochondrial enlargement and swelling as in the present study had been well documented in the brain of the brindled mouse; mitochondrial dense bodies had also been reported in previous case reports of MKHD by other authors. The present study strongly suggests that the mitochondrial disease is an essential abnormality and may be responsible for the progressive degeneration of the CNS in MKHD.
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PMID:Mitochondrial abnormalities in Menkes' kinky hair disease (MKHD). Electron-microscopic study of the brain from an autopsy case. 686 58

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.
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PMID:[Neuropathological study of Menkes' kinky hair disease: on the mechanism of development of cerebrovascular lesions (author's transl)]. 709 69

Fourteen patients (10 boys, 4 girls) aged from 4 months to 14 years old were diagnosed with mitochondrial disease based on the clinical manifestations together with abnormal muscle mitochondrial morphologies. Their clinical diagnoses included Leigh syndrome, three; Menkes' syndrome, three; Kearns-Sayre syndrome, two; myoclonic epilepsy with ragged fibres, one; and infant-onset progressive myoclonic epilepsy, one; fatal infantile mitochondrial myopathy, one; fatty acid oxidation defect, two; and myopathy with cardiopathy, one. Organs involved other than muscles included central nervous system, ten; heart, six; eye, two; liver, two; and kidney, two. Clinical manifestations varied to include hypotonia, seizures, myoclonus, mental retardation, nystagmus, ataxia, ptosis, ophthalmoplegia, retinal degeneration, muscle atrophy, spasticity etc. Nine had an abnormal rise in lactate after glucose loading. Ragged-red fibres were found in four patients. Abnormal mitochondrial morphology included abnormal accumulation, abnormal cristae pattern of tubular, concentric, or parallel form, some contained osmiophilic inclusion bodies. One patient of Leigh syndrome had had brain necropsy which showed intramyelin splitting of myelinated axons.
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PMID:Clinical manifestation of mitochondrial diseases in children. 821 54