Open Access
- 21 June 2014
- journal article
- case report
- Published by Springer Nature in Italian Journal of Pediatrics
- Vol. 40 (1) , 59
Abstract
Neurofibromatosis type 1 (NF1) is the most prevalent autosomal dominant genetic disorder among humans. NF1 vasculopathy is a significant but underrecognized complication of the disease, affecting both arterial and venous blood vessels of all sizes. Moyamoya syndrome is a cerebral vasculopathy that is only rarely observed in association with NF1, particularly in the pediatric age range. Herein, we report of a 5-year-old female with NF1 and moyamoya syndrome and we briefly review the existing literature.Keywords
This publication has 52 references indexed in Scilit:
- Spectrum and Prevalence of Vasculopathy in Pediatric Neurofibromatosis Type 1Journal of Child Neurology, 2012
- Cerebral Vasculopathy in Children With Neurofibromatosis Type 1Journal of Child Neurology, 2012
- Discovery of asymptomatic moyamoya arteriopathy in pediatric syndromic populations: radiographic and clinical progressionNeurosurgical Focus, 2011
- Pleomorphic Xanthoastrocytoma and Moyamoya Disease in a Patient With Neurofibromatosis Type 1 -Case Report-Neurologia medico-chirurgica, 2011
- Cerebrovasculopathy in NF1 associated with ocular and scalp defectsAmerican Journal of Medical Genetics Part A, 2010
- Relative contributions of the middle meningeal artery and superficial temporal artery in revascularization surgery for moyamoya syndrome in children: the results of superselective angiographyJournal of neurosurgery. Pediatrics, 2010
- Progressive Unilateral Hemispheric Atrophy in an Infant with NeurofibromatosisNeuropediatrics, 2007
- Neurofibromatosis 1 associated with an intracranial artery abnormality, moyamoya disease and bilateral congenital large hairy pigmented maculesBritish Journal of Dermatology, 2004
- Renal Artery Lesions in Patients With Moyamoya DiseaseStroke, 2000
- Progressive Occlusive Cerebrovascular Disease in a Patient with Neurofibromatosis Type 1Clinical Pediatrics, 1992