Moyamoya Disease in a Young Female With Neurofibromatosis Type 1

Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of the terminal portions of the internal carotid arteries (ICAs) and the development of a network of abnormal collateral vessels. This case depicts a 25-year-old African American female patient with neurof...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2021-10, Vol.13 (10)
Main Authors: Mehkri, Yusuf, Rivas, Lorena Figueredo, Jules, Rebecca, Tuna, Ibrahim S, Hoh, Brian L, Shuhaiber, Hans H
Format: Article
Language:English
Subjects:
Aspirin
Asymptomatic
Carotid arteries
Case reports
Genetic disorders
Heart surgery
Hemorrhage
Hypertension
Ischemia
Medical imaging
Mutation
Neurological disorders
Neurology
Neurosurgery
Pathophysiology
Stroke
Tomography
Tumors
Veins & arteries
Citations: Items that this one cites
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Summary:Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of the terminal portions of the internal carotid arteries (ICAs) and the development of a network of abnormal collateral vessels. This case depicts a 25-year-old African American female patient with neurofibromatosis type 1 (NF-1), whose initial hospital presentation occurred in a hypertensive emergency setting. Surveillance studies with magnetic resonance imaging (MRI) revealed multiple asymptomatic right cortical strokes. Genetic testing evidenced a novel, unique pathogenic variant on the NF-1 gene. The patient underwent combined bypass surgery first and then was placed on aspirin and a blood pressure control regimen. Our case illustrates the need for clinicians to include moyamoya disease in the list of differential diagnoses when encountering a young patient, without major risk factors, presenting with ischemic stroke. It should be considered even with no known history of previously diagnosed MMD or NF-1, as these pathologies may have yet to be evaluated in subclinical cases.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.19121