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Cerebrovasculopathy in NF1 associated with ocular and scalp defects

Authors

  • Matt Smith,

    1. Provincial Medical Genetics Programme, University of British Columbia, Vancouver, British Columbia, Canada
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  • Manraj K.S. Heran,

    1. Children's & Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada
    2. Department of Radiology, University of British Columbia, Vancouver, British Columbia, Canada
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  • Mary B. Connolly,

    1. Children's & Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada
    2. Division of Neurology, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
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  • Harindar K. Heran,

    1. Provincial Medical Genetics Programme, University of British Columbia, Vancouver, British Columbia, Canada
    2. Children's & Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada
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  • J.M. Friedman,

    1. Provincial Medical Genetics Programme, University of British Columbia, Vancouver, British Columbia, Canada
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  • Kimberly Jett,

    1. Provincial Medical Genetics Programme, University of British Columbia, Vancouver, British Columbia, Canada
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  • Christopher J. Lyons,

    1. Children's & Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada
    2. Department of Ophthalmology, University of British Columbia, Vancouver, British Columbia, Canada
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  • Paul Steinbok,

    1. Children's & Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada
    2. Division of Pediatric Neurosurgery, University of British Columbia, Vancouver, British Columbia, Canada
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  • Linlea Armstrong

    Corresponding author
    1. Provincial Medical Genetics Programme, University of British Columbia, Vancouver, British Columbia, Canada
    2. Children's & Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada
    • Provincial Medical Genetics Programme, University of British Columbia, 4500 Oak Street, Vancouver, BC, V6H 3N1 Canada.
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  • How to Cite this Article: Smith M, Heran MKS, Connolly MB, Heran HK, Friedman JM, Jett K, Lyons CJ, Steinbok P, Armstrong L. 2011. Cerebrovasculopathy in NF1 associated with ocular and scalp defects. Am J Med Genet Part A 155:380–385.

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. © 2010 Wiley-Liss, Inc.

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