TY - JOUR T1 - Moyamoya syndrome in a young person with Down syndrome: diagnostic and therapeutic considerations JF - BMJ Case Reports JO - BMJ Case Reports DO - 10.1136/bcr-2021-246168 VL - 15 IS - 3 SP - e246168 AU - Deborah Kathleen Rose AU - Lauren Chamberlain AU - Jeffrey Ashton AU - Shadi Yaghi AU - Erik F Hauck AU - Brian Mac Grory Y1 - 2022/03/01 UR - http://casereports.bmj.com/content/15/3/e246168.abstract N2 - 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. ER -