title: Detection of Cerebral Vasculopathy by Transcranial Doppler in Children With Neurofibromatosis Type 1.
abstract: Neurofibromatosis type 1 is characterized by nerve sheath neurofibromas associated with a number of additional clinical features, including cerebrovascular disease. The aim of this study was to use transcranial Doppler as a screening method for identifying cerebral vasculopathy in children with neurofibromatosis type 1. Forty children with neurofibromatosis type 1, aged 5 to 18 years old, were examined by transcranial Doppler. Patients presenting with hemodynamic features of arterial stenosis/occlusion on transcranial Doppler underwent magnetic resonance angiography to confirm the findings. Magnetic resonance angiography was performed on 4 children who exhibited a transcranial Doppler hemodynamic pattern indicative of cerebral vasculopathy. Among these cases, 2 presented internal carotid artery stenosis/occlusion, 1 had bilateral middle cerebral artery stenosis, and 1 presented a normal magnetic resonance angiography result. Transcranial Doppler can be used routinely in the investigation of cerebrovascular disease in neurofibromatosis type 1 patients, where magnetic resonance angiography can be subsequently applied to confirm the diagnosis, further contributing to the prevention of cerebrovascular events.
authors.affiliation: Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil.
authors.forename: Joelma Karin Sagica Fernandes
authors.initials: JK
authors.lastname: Paschoal
authors.affiliation: Laboratory for Neurosonology and Cerebral Hemodynamics, Division of Clinical Neurosurgery, Hospital das Clinicas, Sao Paulo University Medical School, Sao Paulo, Brazil.
authors.forename: Fernando Mendes
authors.initials: FM
authors.lastname: Paschoal
authors.affiliation: Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil.
authors.forename: Fernanda Teresa
authors.initials: FT
authors.lastname: de Lima
authors.affiliation: Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil.
authors.forename: Ricardo Silva
authors.initials: RS
authors.lastname: Pinho
authors.affiliation: Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil.
authors.forename: Luiz Celso Pereira
authors.initials: LC
authors.lastname: Vilanova
authors.affiliation: Laboratory for Neurosonology and Cerebral Hemodynamics, Division of Clinical Neurosurgery, Hospital das Clinicas, Sao Paulo University Medical School, Sao Paulo, Brazil edsonshu@hotmail.com.
authors.forename: Edson
authors.initials: E
authors.lastname: Bor-Seng-Shu
authors.affiliation: Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil.
authors.forename: Marcelo Rodrigues
authors.initials: MR
authors.lastname: Masruha
mesh_terms: D000293:Adolescent; D001783:Blood Flow Velocity; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D020765:Intracranial Arterial Diseases / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D018810:Magnetic Resonance Angiography; D008297:Male; D020768:Middle Cerebral Artery / Q000000981:diagnostic imaging / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000473:pathology / Q000503:physiopathology; D017585:Ultrasonography, Doppler, Transcranial
keywords: cerebrovascular disease; neurofibromatosis; transcranial Doppler