title: Neurofibromatosis type 1 associated with moyamoya syndrome in children.
abstract: BACKGROUND
  Vascular abnormalities in neurofibromatosis type 1 may arise anywhere in the cardiovascular system, and cerebrovascular involvement is the predominant feature of moyamoya syndrome. Because neurofibromatosis type 1 is a neurocutaneous disorder and routine follow-up with cranial MRI is not standard practice in asymptomatic children, accurate epidemiologic data are lacking. On follow-up, clinical and radiologic progression is often found in patients with moyamoya syndrome.
  
  
  METHODS
  We performed a retrospective analysis on children with neurofibromatosis type 1 who had been diagnosed with moyamoya syndrome on cranial MRI.
  
  
  RESULTS
  Of the 197 children diagnosed with neurofibromatosis type 1, 168 had undergone a cranial MRI, and four (2.3%) of them had moyamoya syndrome. At diagnosis, one child had headache and vomiting related to a right frontal hematoma and the other three children were asymptomatic, including one child with a previous history of renal arteriopathy. In two children moyamoya syndrome was unilateral.
  
  
  CONCLUSIONS
  The association between moyamoya syndrome and neurofibromatosis type 1 is rare, but it poses a potential risk of clinicoradiologic progression. Targeted monitoring of children with neurofibromatosis type 1 ensures an early diagnosis of moyamoya syndrome.
authors.affiliation: Department of Pediatric Neurology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain. Electronic address: annaduatr@gmail.com.
authors.forename: Anna
authors.initials: A
authors.lastname: Duat-Rodríguez
authors.affiliation: Department of Pediatric Hemato-Oncology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
authors.forename: Fernando
authors.initials: F
authors.lastname: Carceller Lechón
authors.affiliation: Department of Pediatric Radiology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
authors.forename: Miguel Ángel
authors.initials: MÁ
authors.lastname: López Pino
authors.affiliation: Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Rodríguez Fernández
authors.affiliation: Department of Pediatric Neurology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
authors.forename: Luis
authors.initials: L
authors.lastname: González-Gutiérrez-Solana
mesh_terms: D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D009072:Moyamoya Disease / Q000150:complications* / Q000175:diagnosis; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000175:diagnosis; D011859:Radiography
keywords: cerebrovascular; childhood; moyamoya; neurofibromatosis type 1