Intraventricular Hemorrhage Disclosing Neurofibromatosis 1 and Moyamoya Phenomena

Abstract

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 cafe 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 rightsided 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. Neurofibromatosis 1 vasculopathy is a disease of the entire arterial system, but it has a predilection for involving renal arteries, gastrointestinal vessels, coronary arteries, and intracranial vessels. Intracranial vasculopathy associated with NF1 may be occlusive and/or aneurysmal in nature. The vasculopathy is primarily a large vessel disease that characteristically affects the distal internal carotid artery and proximal middle and anterior cerebral arteries. This results in an angiographic moyamoya phenomenon, which is the appearance of collateral vasculature giving a hazy “puff of smoke” appearance. The true incidence of intracranial vasculopathy in NF1 is not known. In our database of 1200 cases of NF1 we identified only 6 patients with intracranial vasculopathy ( James Tonsgard, MD, written communication, February 15, 2006). Correspondence: Dr Rosengart, Neurocritical Care and Acute Stroke Program, The University of Chicago Pritzker School of Medicine, 5841 A Maryland Ave, MC 2030, Chicago, IL 60637 (arosenga @uchicago.edu). Author Contributions: Study concept and design: Khan and Rosengart. Acquisition of data: Novakovic. Drafting of the manuscript: Khan. Critical revision of the manuscript for important intellectual content: Novakovic and Rosengart. Administrative, technical, and material support: Khan, Novakovic. Study supervision: Rosengart. Financia l Disc losure : None reported.