Abstract Details

Title Progressive Moyamoya-like Vasculopathy in Neurofibromatosis Type 1 Presenting with Recurrent Ischemic and Hemorrhagic Strokes

Topic General Neurology

Presentation(s) P2 - Poster Session 2 (11:45 AM-12:45 PM)

Poster/Presentation
Number 7-013

Objective We describe a genetically confirmed case of neurofibromatosis type 1 (NF1) with progressive unilateral vasculopathy leading to recurrent ischemic and hemorrhagic strokes, emphasizing the pathophysiologic overlap between hypertensive small-vessel disease and NF1-associated large-vessel dysplasia.

Background NF1, caused by pathogenic variants in the NF1 gene on chromosome 17, results in loss of neurofibromin-mediated RAS pathway regulation and dysplastic remodeling of arterial walls. Intimal hyperplasia and collateral fragility may produce stenosis, occlusion, or moyamoya-like networks. Although either ischemic or hemorrhagic stroke can occur, their sequential presentation in a single vascular territory highlights the diffuse and unpredictable nature of NF1-related vasculopathy.

Design/Methods Single patient case report.

Results A 45-year-old man with genetically confirmed NF1, hypertension, and dyslipidemia presented with acute binocular diplopia during a hypertensive emergency (blood pressure 226/147 mm Hg). Examination revealed right internuclear ophthalmoplegia, and MRI brain demonstrated a small acute dorsal paramedian pontine infarct. CTA of the head and neck showed chronic left M1 occlusion with distal M2 reconstitution, unchanged from prior imaging. He was treated with aspirin and antihypertensive therapy and discharged with improvement in ocular symptoms. Several months later, he was found unresponsive. CT head revealed a left anterior cerebral artery infarct with type II hemorrhagic transformation, and CTA demonstrated proximal propagation of the chronic left M1 occlusion into the distal ICA, consistent with progressive unilateral moyamoya-like vasculopathy. Prior evaluation, including echocardiography, prolonged rhythm monitoring, and hypercoagulable testing, was unrevealing. The recurrence of left-sided ischemic and hemorrhagic events supported a unifying diagnosis of NF1-associated vasculopathy. He achieved partial recovery with rehabilitation.

Conclusions NF1 may produce progressive large-vessel stenosis resembling moyamoya, predisposing to recurrent ischemic and hemorrhagic strokes within the same vascular territory. Recognition of this evolving vasculopathy is essential for tailored secondary prevention, strict blood pressure control, and consideration of revascularization strategies in selected cases.

Authors/Disclosures
Gautham H. Budaraju PRESENTER	Mr. Budaraju has nothing to disclose.
Bahar Saber, MD (Baylor Scott and White)	Dr. Saber has nothing to disclose.

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