title: Cerebrovasculopathy in NF1 associated with ocular and scalp defects.
abstract: Vascular lesions are uncommon in children with neurofibromatosis 1 (NF1) but can cause serious complications. We report on a child with NF1 who presented at 18 months of age with symptomatic stenosis of the left middle cerebral artery and its branches, and associated moyamoya disease. She also had bilateral posterior embryotoxon, left corneal opacity (Peters anomaly), and cutis aplasia of the left scalp. All of these defects may have occurred as a result of disruption of the blood supply caused by NF1 vasculopathy prenatally. This constellation of vascular anomalies has not been previously reported in a patient with NF1.
authors.affiliation: Provincial Medical Genetics Programme, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Matt
authors.initials: M
authors.lastname: Smith
authors.forename: Manraj K S
authors.initials: MK
authors.lastname: Heran
authors.forename: Mary B
authors.initials: MB
authors.lastname: Connolly
authors.forename: Harindar K
authors.initials: HK
authors.lastname: Heran
authors.forename: J M
authors.initials: JM
authors.lastname: Friedman
authors.forename: Kimberly
authors.initials: K
authors.lastname: Jett
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Lyons
authors.forename: Paul
authors.initials: P
authors.lastname: Steinbok
authors.forename: Linlea
authors.initials: L
authors.lastname: Armstrong
mesh_terms: D000869:Anterior Eye Segment / Q000002:abnormalities / Q000473:pathology; D002533:Cerebral Angiography; D003318:Corneal Opacity / Q000209:etiology / Q000473:pathology; D020732:Cytogenetic Analysis; D005124:Eye Abnormalities / Q000209:etiology / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D009072:Moyamoya Disease / Q000209:etiology / Q000473:pathology*; D009456:Neurofibromatosis 1 / Q000150:complications / Q000473:pathology*; D012535:Scalp / Q000473:pathology*; D014057:Tomography, X-Ray Computed