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2 results

  • Chapter 5.3 - Chapter

  • from 5 - Hereditary and Genetic Causes of Stroke
  • Edited by Derya Uluduz, Istanbul Üniversitesi
  • Anita Arsovska
  • Book:
    Rare Causes of Stroke
    Published online:
    06 October 2022
    Print publication:
    01 September 2022, pp 262-266

  • Summary

    Menkes disease (MD) is a rare and lethal infantile neurodegenerative multisystemic disorder of copper metabolism, inherited as an X-linked recessive trait. In classic MD, patients have a serious clinical progression, with death in early childhood. MD occurs due to mutations in the ATP7A gene. Initial MD diagnosis is pointed out by clinical features, namely, the distinctive hair, and supported by reduced serum copper and ceruloplasmin levels. Lysyl oxidase is a copper-dependent enzyme implicated in collagen and elastin cross-linking and vascular architecture formation. Dysfunction of this protein in MD leads to anomalous vessel structure and tortuosity. Both haemorrhagic and ischemic stroke have been reported. Bilateral ischaemic lesions in deep grey matter, or in the cortical areas, as consequence of brain infarcts have been documented. MD treatment is mostly symptomatic with parenterally or subcutaneous injections of copper-histidine Antithrombotic therapy may be considered

  • 39 - DISSEMINATED INTRAVASCULAR DISEASE

  • from PART IV: - DISORDERS INVOLVING ABNORMAL COAGULATION
  • Edited by Louis R. Caplan, Julien Bogousslavsky
  • Book:
    Uncommon Causes of Stroke
    Published online:
    06 January 2010
    Print publication:
    09 October 2008, pp 275-282

  • Summary

    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.