Moyamoya Disease in a Young Female With Neurofibromatosis Type 1.

Abstract

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.

• Authors: Yusuf Mehkri, Lorena Figueredo Rivas, Rebecca Jules, Ibrahim S Tuna, Brian L Hoh, Hans H Shuhaiber
• Journal: Cureus (Cureus) Vol. 13 Issue 10 Pg. e19121 (Oct 2021) ISSN: 2168-8184 [Print] United States
• PMID: 34858759 (Publication Type: Case Reports)
• Copyright: Copyright © 2021, Mehkri et al.