title: Neurofibromatosis type 1 associated with vertebrobasilar dolichoectasia and pontine ischemic stroke.
abstract: Neurofibromatosis type 1 (NF1) is a heterogeneous, common, neurocutaneous disorder presenting different complications during a life span, including cerebrovascular dysplasia. To our knowledge this is the first reported case of NF1 associated with vertebrobasilar dolichoectasia and pontine ischemic stroke. We describe a 57-year-old man with NF1 who presented an acute onset right-sided facial palsy and hemiplegia, dysarthria, and gait imbalance. Magnetic resonance imaging showed an acute left paramedian pontine infarct and a hypoplastic right vertebral artery. Brain Computed Tomography Angiography revealed the occurrence of vertebrobasilar dolichoectasia. Co-occurrence of VBD and NF1 might not be merely casual and it may significantly heighten the mortality rate in this multisystem disorder. We suggest a possible role of VBD in the genesis of our patient's clinical-radiological features and prompt the early detection of asymptomatic arteriopathy in individuals with NF1 in order to ameliorate patients' quality of life and life expectancy.
authors.affiliation: Institute of Neurology, Catholic University, Rome, Italy.
authors.forename: Nadia Mariagrazia
authors.initials: NM
authors.lastname: Giannantoni
authors.forename: Aldobrando
authors.initials: A
authors.lastname: Broccolini
authors.forename: Giovanni
authors.initials: G
authors.lastname: Frisullo
authors.forename: Fabio
authors.initials: F
authors.lastname: Pilato
authors.forename: Paolo
authors.initials: P
authors.lastname: Profice
authors.forename: Roberta
authors.initials: R
authors.lastname: Morosetti
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Di Lella
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Zampino
authors.forename: Giacomo
authors.initials: G
authors.lastname: Della Marca
mesh_terms: D001933:Brain Stem / Q000098:blood supply; D002533:Cerebral Angiography; D006801:Humans; D018810:Magnetic Resonance Angiography; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis*; D035583:Rare Diseases; D020521:Stroke / Q000175:diagnosis* / Q000209:etiology*; D014057:Tomography, X-Ray Computed; D014715:Vertebrobasilar Insufficiency / Q000175:diagnosis* / Q000209:etiology*
keywords: Neurofibromatosis; stroke; vertebrobasilar dolichoectasia