{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T14:51:05Z","timestamp":1767192665370,"version":"3.44.0"},"reference-count":20,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,1,27]]},"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/bcr-2021-246168","type":"journal-article","created":{"date-parts":[[2022,3,4]],"date-time":"2022-03-04T11:13:33Z","timestamp":1646392413000},"page":"e246168","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Moyamoya syndrome in a young person with Down syndrome: diagnostic and therapeutic considerations"],"prefix":"10.1136","volume":"15","author":[{"given":"Deborah Kathleen","family":"Rose","sequence":"first","affiliation":[{"name":"Department of Neurology, Duke University School of Medicine, Durham, North Carolina, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Chamberlain","sequence":"additional","affiliation":[{"name":"Department of Neurology, Duke University School of Medicine, Durham, North Carolina, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey","family":"Ashton","sequence":"additional","affiliation":[{"name":"Department of Radiology, Duke University School of Medicine, Durham, North Carolina, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shadi","family":"Yaghi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik F","family":"Hauck","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Duke University School of Medicine, Durham, North Carolina, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian","family":"Mac Grory","sequence":"additional","affiliation":[{"name":"Department of Neurology, Duke University School of Medicine, Durham, North Carolina, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,3,4]]},"reference":[{"key":"2025082803431377000_15.3.e246168.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc090780"},{"key":"2025082803431377000_15.3.e246168.2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2007.130666"},{"key":"2025082803431377000_15.3.e246168.3","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0137093","article-title":"Risk of major cardiovascular events in people with Down syndrome","volume":"10","author":"Sobey","year":"2015","journal-title":"PLoS One"},{"key":"2025082803431377000_15.3.e246168.4","first-page":"58","article-title":"Down syndrome and moyamoya: clinical presentation and surgical management","volume":"16","author":"See","year":"2015","journal-title":"J Neurosurg"},{"key":"2025082803431377000_15.3.e246168.5","doi-asserted-by":"crossref","unstructured":"Santoro JD , Lee S , Mlynash M , et al . Blood pressure elevation and risk of moyamoya syndrome in patients with trisomy 21. Pediatrics 2018;142.doi:10.1542\/peds.2018-0840","DOI":"10.1542\/peds.2018-0840"},{"key":"2025082803431377000_15.3.e246168.6","doi-asserted-by":"crossref","DOI":"10.5070\/D305M5F4BX","article-title":"Psoriasis and Down syndrome: a report of three cases and a potential pathophysiologic link","volume":"18","author":"Marmon","year":"2012","journal-title":"Dermatol Online J"},{"key":"2025082803431377000_15.3.e246168.7","doi-asserted-by":"publisher","DOI":"10.5853\/jos.2015.01760"},{"key":"2025082803431377000_15.3.e246168.8","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0036386","article-title":"Clinical and immunopathological features of moyamoya disease","volume":"7","author":"Lin","year":"2012","journal-title":"PLoS One"},{"key":"2025082803431377000_15.3.e246168.9","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2021.724969","article-title":"Increased autoimmunity in individuals with Down syndrome and moyamoya disease","volume":"12","author":"Santoro","year":"2021","journal-title":"Front Neurol"},{"key":"2025082803431377000_15.3.e246168.10","doi-asserted-by":"publisher","DOI":"10.3171\/jns.2005.103.3.0439"},{"key":"2025082803431377000_15.3.e246168.11","doi-asserted-by":"publisher","DOI":"10.3171\/2015.5.JNS15767"},{"key":"2025082803431377000_15.3.e246168.12","doi-asserted-by":"publisher","DOI":"10.1161\/STR.0000000000000183"},{"key":"2025082803431377000_15.3.e246168.13","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.25.9.1776"},{"key":"2025082803431377000_15.3.e246168.14","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1161\/HYPERTENSIONAHA.119.14416","article-title":"Diminished blood pressure profiles in children with Down syndrome","volume":"75","author":"Santoro","year":"2020","journal-title":"Hypertension"},{"key":"2025082803431377000_15.3.e246168.15","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.115.011173"},{"key":"2025082803431377000_15.3.e246168.16","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.pediatrneurol.2017.01.016","article-title":"Epidemiology and outcomes of arterial ischemic stroke in children: the Canadian pediatric ischemic stroke Registry","volume":"69","author":"deVeber","year":"2017","journal-title":"Pediatr Neurol"},{"key":"2025082803431377000_15.3.e246168.17","doi-asserted-by":"crossref","first-page":"2302","DOI":"10.1161\/STROKEAHA.120.032699","article-title":"Preoperative risks of cerebral infarction in pediatric moyamoya disease","volume":"52","author":"Hayashi","year":"2021","journal-title":"Stroke"},{"key":"2025082803431377000_15.3.e246168.18","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.117.018563"},{"key":"2025082803431377000_15.3.e246168.19","doi-asserted-by":"crossref","first-page":"793","DOI":"10.3171\/2016.11.JNS161688","article-title":"Meta-Analysis of the surgical outcomes of symptomatic moyamoya disease in adults","volume":"128","author":"Jeon","year":"2018","journal-title":"J Neurosurg"},{"key":"2025082803431377000_15.3.e246168.20","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-012-1743-7"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-246168","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T10:43:27Z","timestamp":1756377807000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-246168"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3]]},"references-count":20,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2022,3,4]]},"published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1136\/bcr-2021-246168"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-246168","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2022,3]]}}}