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Cerebrovasculopathy in NF1 associated with ocular and scalp defects
Author(s) -
Smith Matt,
Heran Manraj K.S.,
Connolly Mary B.,
Heran Harindar K.,
Friedman J.M.,
Jett Kimberly,
Lyons Christopher J.,
Steinbok Paul,
Armstrong Linlea
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33788
Subject(s) - medicine , scalp , neurofibromatosis , vascular anomaly , aplasia cutis congenita , moyamoya disease , stenosis , surgery , radiology
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.