RT Journal Article
SR Electronic
T1 Moyamoya syndrome in a young person with Down syndrome: diagnostic and therapeutic considerations
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e246168
DO 10.1136/bcr-2021-246168
VO 15
IS 3
A1 Deborah Kathleen Rose
A1 Lauren Chamberlain
A1 Jeffrey Ashton
A1 Shadi Yaghi
A1 Erik F Hauck
A1 Brian Mac Grory
YR 2022
UL http://casereports.bmj.com/content/15/3/e246168.abstract
AB 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.