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Moyamoya syndrome in a young person with Down syndrome: diagnostic and therapeutic considerations
  1. Deborah Kathleen Rose1,
  2. Lauren Chamberlain1,
  3. Jeffrey Ashton2,
  4. Shadi Yaghi3,
  5. Erik F Hauck4 and
  6. Brian Mac Grory1
  1. 1Department of Neurology, Duke University School of Medicine, Durham, North Carolina, USA
  2. 2Department of Radiology, Duke University School of Medicine, Durham, North Carolina, USA
  3. 3Department of Neurology, Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA
  4. 4Department of Neurosurgery, Duke University School of Medicine, Durham, North Carolina, USA
  1. Correspondence to Dr Brian Mac Grory; brian.mac.grory{at}


An 18-year-old woman with a history of Down syndrome (DS) presented with left upper extremity weakness. Neurological examination revealed moderate hypotonia throughout, with mild spasticity of the left ankle. She had 2/5 left upper and lower extremity strength, mild pronation with drift in the left arm and 3+ deep tendon reflexes in the left biceps, brachioradialis, patellar and Achilles. Strength was 5/5 in the right upper and lower extremities. A CT angiography of the head and neck with contrast demonstrated severe narrowing of the bilateral supraclinoid internal carotid arteries (ICAs), suggestive of moyamoya pattern. A diagnostic angiography confirmed stenosis in the right and left supraclinoid ICAs. The patient was started on aspirin therapy and underwent an indirect bypass procedure via encephaloduroarteriosynangiosis 6 weeks after initial presentation. DS is associated with a high risk of congenital heart disease, which in turn increases risk of stroke, namely cardioembolic events, including moyamoya disease. Intellectual disability is nearly ubiquitous in DS, thus adding to the challenges of making a diagnosis of moyamoya in this population.

  • moyamoya
  • stroke
  • developmental paediatrics

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  • Contributors DKR devised the concept for the article, prepared the manuscript, performed literature review and revised the manuscript. LC performed literature review and revised the manuscript. JA prepared the supplementary neuroimaging content for this manuscript. SY revised the manuscript. EFH revised the manuscript. BMG revised the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.