Intracerebral hemorrhage as a rare manifestation in a patient with neurofibromatosis-1 and quasi-Moyamoya disease

Abstract

Neurofibromatosis-1 (NF-1) is an autosomal dominant neurocutaneous syndrome with incomplete penetrance and variable phenotypic expressivity. Although it may affect any system of the body, the disease remains generally innocuous. NF-1 has been commonly linked to neurological symptoms, including headaches, seizures, cognitive deficits, and learning disabilities, and others. While optic glioma is the most common CNS complication, vasculopathy and cerebrovascular anomalies have also been rarely reported. Specifically, intracerebral hemorrhage with vascular stenosis in NF-1 is an extremely rare manifestation. Herein, we report a patient with NF-1 presenting with stroke secondary to intracranial hemorrhage and underlying quasi-Moyamoya disease. Since the cutaneous features of NF-1 appear early in life and are striking, dermatologists might be the first contact for such patients with the medical system, and consequently play an important role in the diagnosis, evaluation, and prevention of complications.