• Anna Duat-Rodríguez, Fernando Carceller Lechón, Miguel Ángel López Pino, Cristina Rodríguez Fernández, and Luis González-Gutiérrez-Solana.
• Department of Pediatric Neurology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain. Electronic address: annaduatr@gmail.com.
• Pediatr. Neurol. 2014 Jan 1; 50 (1): 96-8.

BackgroundVascular 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.MethodsWe performed a retrospective analysis on children with neurofibromatosis type 1 who had been diagnosed with moyamoya syndrome on cranial MRI.ResultsOf 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.ConclusionsThe 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.Copyright © 2014 Elsevier Inc. All rights reserved.

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