Document Detail


Cerebrovasculopathy in NF1 associated with ocular and scalp defects.
MedLine Citation:
PMID:  21271658     Owner:  NLM     Status:  MEDLINE    
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.
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:  Case Reports; Journal Article     Date:  2010-12-22
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  155A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-01-28     Completed Date:  2011-05-20     Revised Date:  2011-06-07    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  380-5     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Wiley-Liss, Inc.
Affiliation:
Provincial Medical Genetics Programme, University of British Columbia, Vancouver, British Columbia, Canada.
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MeSH Terms
Descriptor/Qualifier:
Anterior Eye Segment / abnormalities,  pathology
Cerebral Angiography
Corneal Opacity / etiology,  pathology
Cytogenetic Analysis
Eye Abnormalities / etiology,  pathology
Female
Humans
Infant
Moyamoya Disease / etiology,  pathology*
Neurofibromatosis 1 / complications,  pathology*
Scalp / pathology*
Tomography, X-Ray Computed

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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