Moyamoya Disease in a Young Female With Neurofibromatosis Type 1

• 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
• ISSN: 2168-8184; 2168-8184
• DOI: 10.7759/cureus.19121

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.