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The characteristic feature of Menkes disease (MD), as expressed in the human infant, is maldistribution of body copper. It is caused by mutation in ATP7A, a gene mapped to the long arm of the X-chromosome (Xq12-q13). This chapter focuses on pathology, clinical manifestations, diagnosis and treatment options for Menkes disease (MD). The clinical history and changes within the brain result from vascular lesions, copper deficiency, or a combination of the two. On angiographic or magnetic resonance (MR) angiographic studies reveal, a striking and progressive intracranial and extracranial vascular tortuosity is apparent. Similar changes are seen in the systemic vasculature. Aneurysms are not unusual. Neuroimaging discloses cerebral atrophy and bilateral ischemic lesions in deep gray matter, or in the cortical areas, the consequence of brain infarcts. Copper supplementation, using daily injections of copperhistidine, appears to be the most promising treatment.
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