Document Detail


Cerebrovasculopathy in NF1 associated with ocular and scalp defects.
MedLine Citation:
PMID:  21182006     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Matt Smith; Manraj K S Heran; Mary B Connolly; Harindar K Heran; J M Friedman; Kimberly Jett; Christopher J Lyons; Paul Steinbok; Linlea Armstrong
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2010-12-22
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  -     ISSN:  1552-4833     ISO Abbreviation:  -     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-12-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Provincial Medical Genetics Programme, University of British Columbia, Vancouver, British Columbia, Canada.
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