Anna Duat-Rodríguez1, Fernando Carceller Lechón2, Miguel Ángel López Pino3, Cristina Rodríguez Fernández4, Luis González-Gutiérrez-Solana5. 1. Department of Pediatric Neurology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain. Electronic address: annaduatr@gmail.com. 2. Department of Pediatric Hemato-Oncology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain. 3. Department of Pediatric Radiology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain. 4. Department of Pediatrics, Complejo Asistencial Universitario de León, León, Spain. 5. Department of Pediatric Neurology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
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.
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 childrenmoyamoya 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.