Moyamoya Disease in a Young Female With Neurofibromatosis Type 1
| Autor: | Ibrahim Sacit Tuna, Brian L. Hoh, Yusuf Mehkri, Rebecca Jules, Hans H. Shuhaiber, Lorena Figueredo Rivas |
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| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty medicine.diagnostic_test aspirin business.industry Neurosurgery General Engineering Magnetic resonance imaging medicine.disease Asymptomatic Stenosis Neurology Bypass surgery neurofibromatosis type 1 (nf-1) ischemic stroke medicine revascularization Hypertensive emergency Moyamoya disease Neurofibromatosis medicine.symptom moyamoya disease business Subclinical infection |
| Zdroj: | Cureus |
| ISSN: | 2168-8184 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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