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.
Cerebrovasculopathy in NF1 associated with ocular and scalp defects†
Version of Record online: 22 DEC 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 2, pages 380–385, February 2011
How to Cite
Smith, M., Heran, M. K.S., Connolly, M. B., Heran, H. K., Friedman, J.M., Jett, K., Lyons, C. J., Steinbok, P. and Armstrong, L. (2011), Cerebrovasculopathy in NF1 associated with ocular and scalp defects. Am. J. Med. Genet., 155: 380–385. doi: 10.1002/ajmg.a.33788
- Issue online: 25 JAN 2011
- Version of Record online: 22 DEC 2010
- Manuscript Accepted: 3 OCT 2010
- Manuscript Received: 3 FEB 2009
- neurofibromatosis 1;
- Peters anomaly;
- cutis aplasia
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.