Cerebrovasculopathy in NF1 associated with ocular and scalp defects
- 22 December 2010
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 155 (2) , 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.Keywords
This publication has 22 references indexed in Scilit:
- Transcriptomal profiling of site-specific Ras signalsCellular Signalling, 2007
- Neurofibromin is a novel regulator of RAS-induced signals in primary vascular smooth muscle cellsHuman Molecular Genetics, 2006
- Anomalias congênitas do disco óptico associadas à doença de Moyamoya: relato de casoArquivos de Neuro-Psiquiatria, 2005
- Targeting neovascular pericytes in neurofibromatosis type 1Angiogenesis, 2004
- Peters’ anomaly with bilateral perisylvian polymicrogyria and abdominal calcificationCongenital Anomalies, 2004
- Mortality in Neurofibromatosis 1: An Analysis Using U.S. Death CertificatesThe American Journal of Human Genetics, 2001
- Epidemiology of neurofibromatosis type 1American Journal of Medical Genetics, 1999
- Aplasia cutis congenita and associated disorders: an updateClinical Genetics, 1995
- Expression of the neurofibromatosis I gene product, neurofibromin, in blood vessel endothelial cells and smooth muscleNeurobiology of Disease, 1995
- Progressive Occlusive Cerebrovascular Disease in a Patient with Neurofibromatosis Type 1Clinical Pediatrics, 1992