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Images in Neurology |

Intraventricular Hemorrhage Disclosing Neurofibromatosis 1 and Moyamoya Phenomena

Mohsin Khan, MD; Roberta L. Novakovic, MD; Axel J. Rosengart, MD, PhD
Arch Neurol. 2006;63(11):1653-1654. doi:10.1001/archneur.63.11.1653.
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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.

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Initial head computed tomography. A, Intraventricular hemorrhage, additional images identified border zone (anterior cerebral artery/middle cerebral artery) ischemic changes on the right side. B, Neovascularization (arrowheads) and proximal arterial occlusive disease of the right supraclinoid internal carotid artery bifurcation (1). Note additional involvement of more distal middle cerebral artery branches (2). C, Narrowing of the left supraclinoid internal carotid (arrow) and proximal middle cerebral arteries (arrowhead). D, Cutaneous neurofibroma (1), café au lait spots (2), and axillary freckling (3), consistent with the diagnosis of neurofibromatosis 1.

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