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(Stroke. 1996;27:2131-2135.)
© 1996 American Heart Association, Inc.

Articles

Moyamoya and Down Syndrome

Clinical and Radiological Features

Steven C. Cramer, MD; Richard L. Robertson, MD; Elizabeth C. Dooling, MD R. Michael Scott, MD

the Neurology Service (S.C.C.) and the Pediatric Neurology Unit (E.C.D.), Massachusetts General Hospital, and the Radiology Service (R.L.R.) and Neurosurgery Service (R.M.S.), Children's Hospital, Harvard Medical School, Boston, Mass; and the Clinical Investigator Training Program, Harvard-MIT Division of Health Sciences and Technology and Beth Israel–Deaconess Medical Center in collaboration with Pfizer Inc (S.C.C.).

Correspondence to Dr Steven C. Cramer, Bigelow 1256, Massachusetts General Hospital, Fruit St, Boston, MA 02114.

Background and Purpose Moyamoya disease is a chronic occlusive cerebrovascular disorder characterized by progressive stenosis of the supraclinoid internal carotid artery, with the secondary development of enlarged basal collateral vessels. It may occur as a primary disease or as a syndrome in association with a variety of conditions, and its pathogenesis remains unexplained. There are relatively few reports describing the occurrence of moyamoya in Down syndrome. The aim of this study is to describe the clinical and radiological features of moyamoya syndrome associated with Down syndrome (MM-DS) and to explore theories of moyamoya pathogenesis in these patients.

Methods Seven children with MM-DS underwent brain imaging, transfemoral angiography, and serial neurological exams. Neurological deficits, poststroke recovery, radiographic infarct characteristics, and angiographic abnormalities were reviewed.

Results The clinical and radiological features of primary moyamoya disease overlap with those of MM-DS. Hemiplegia and aphasia were the most common presentations. Motor recovery was excellent in five of seven cases. Cerebral infarcts were superficial or deep and can occur in a watershed distribution. Angiography demonstrated involvement of the internal carotid artery and its branches bilaterally in all seven cases and the posterior cerebral arteries in four cases.

Conclusions The clinical and radiological features of MM-DS overlap with primary moyamoya disease. We postulate that a protein encoded on chromosome 21 may be related to the pathogenesis of moyamoya disease. Although the neuronal substrate is abnormal in Down syndrome patients, recovery from hemiplegic stroke in patients with MM-DS is comparable to recovery in patients with primary moyamoya.

Key Words: Down syndrome • moyamoya disease • recovery • stroke

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