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Moyamoya syndrome in a young person with Down syndrome: diagnostic and therapeutic considerations.

Publication ,  Journal Article
Rose, DK; Chamberlain, L; Ashton, J; Yaghi, S; Hauck, EF; Mac Grory, B
Published in: BMJ Case Rep
March 4, 2022

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.

Duke Scholars

Published In

BMJ Case Rep

DOI

EISSN

1757-790X

Publication Date

March 4, 2022

Volume

15

Issue

3

Location

England

Related Subject Headings

  • Stroke
  • Paresis
  • Moyamoya Disease
  • Humans
  • Female
  • Down Syndrome
  • Cerebral Revascularization
  • Adolescent
  • 42 Health sciences
  • 32 Biomedical and clinical sciences
 

Citation

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Rose, D. K., Chamberlain, L., Ashton, J., Yaghi, S., Hauck, E. F., & Mac Grory, B. (2022). Moyamoya syndrome in a young person with Down syndrome: diagnostic and therapeutic considerations. BMJ Case Rep, 15(3). https://doi.org/10.1136/bcr-2021-246168
Rose, Deborah Kathleen, Lauren Chamberlain, Jeffrey Ashton, Shadi Yaghi, Erik F. Hauck, and Brian Mac Grory. “Moyamoya syndrome in a young person with Down syndrome: diagnostic and therapeutic considerations.BMJ Case Rep 15, no. 3 (March 4, 2022). https://doi.org/10.1136/bcr-2021-246168.
Rose DK, Chamberlain L, Ashton J, Yaghi S, Hauck EF, Mac Grory B. Moyamoya syndrome in a young person with Down syndrome: diagnostic and therapeutic considerations. BMJ Case Rep. 2022 Mar 4;15(3).
Rose, Deborah Kathleen, et al. “Moyamoya syndrome in a young person with Down syndrome: diagnostic and therapeutic considerations.BMJ Case Rep, vol. 15, no. 3, Mar. 2022. Pubmed, doi:10.1136/bcr-2021-246168.
Rose DK, Chamberlain L, Ashton J, Yaghi S, Hauck EF, Mac Grory B. Moyamoya syndrome in a young person with Down syndrome: diagnostic and therapeutic considerations. BMJ Case Rep. 2022 Mar 4;15(3).

Published In

BMJ Case Rep

DOI

EISSN

1757-790X

Publication Date

March 4, 2022

Volume

15

Issue

3

Location

England

Related Subject Headings

  • Stroke
  • Paresis
  • Moyamoya Disease
  • Humans
  • Female
  • Down Syndrome
  • Cerebral Revascularization
  • Adolescent
  • 42 Health sciences
  • 32 Biomedical and clinical sciences