A 47-year-old Hispanic woman was found unresponsive by her family shortly after complaining of sudden onset of headache and vomiting. On initial neurologic examination she was deeply comatose with extensor posturing of all extremities. Findings from physical examination revealed multiple café au lait spots, numerous cutaneous neurofibromas, and axillary freckling (Figure, D) thereby meeting the diagnostic criteria for neurofibromatosis 1 (NF1). The patient's medical history was only remarkable for hypertension; the family history revealed 2 of 3 daughters with similar skin lesions. Computed tomography (CT) of the brain identified intraventricular and intraparenchymal hemorrhage with mass effects (Figure, A) as well as ischemic lesions mostly defined to the border zone distribution of the right anterior and middle cerebral arteries. Diagnostic 4-vessel and CT angiography outlined severe right-sided occlusive disease in the supraclinoid internal carotid, middle cerebral, and anterior cerebral arteries with marked leptomeningeal collateral vessels and neovascularization (Figure, B). Moderate stenoses of the internal carotid artery and middle cerebral artery were also noted on the left (Figure, C). Further workup revealed agenesis of the left kidney but no additional vascular abnormalities.
Khan M, Novakovic RL, Rosengart AJ. Intraventricular Hemorrhage Disclosing Neurofibromatosis 1 and Moyamoya Phenomena. Arch Neurol. 2006;63(11):1653-1654. doi:10.1001/archneur.63.11.1653