Department of Neurology, Duke University School of Medicine, Durham, North Carolina, USA.
Department of Radiology, Duke University School of Medicine, Durham, North Carolina, USA.
BMJ Case Rep. 2022 Mar 4;15(3):e246168. doi: 10.1136/bcr-2021-246168.
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.
一位患有唐氏综合征（DS）的 18 岁女性出现左侧上肢无力。神经系统检查显示全身中度张力减退，左踝关节轻度痉挛。她左侧上肢和下肢的力量为 2/5，左侧手臂有轻度旋前伴漂移，左侧肱二头肌、肱桡肌、髌骨和跟腱的深反射为 3+。右侧上肢和下肢的力量为 5/5。头部和颈部的 CT 血管造影（CTA）显示双侧颈内动脉虹吸段严重狭窄，提示烟雾病模式。诊断性血管造影证实右侧和左侧颈内动脉虹吸段狭窄。患者开始接受阿司匹林治疗，并在初次就诊后 6 周接受了间接旁路手术（颅内外动脉吻合术）。DS 与先天性心脏病的高风险相关，这反过来又增加了中风的风险，即心源性栓塞事件，包括烟雾病。智力障碍在 DS 中几乎普遍存在，这增加了在该人群中诊断烟雾病的难度。
