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.

journal_name

Pediatr Neurol

journal_title

Pediatric neurology

authors

Duat-Rodríguez A,Carceller Lechón F,López Pino MÁ,Rodríguez Fernández C,González-Gutiérrez-Solana L

doi

10.1016/j.pediatrneurol.2013.04.007

subject

Has Abstract

pub_date

2014-01-01 00:00:00

pages

96-8

issue

1

eissn

0887-8994

issn

1873-5150

pii

S0887-8994(13)00219-1

journal_volume

50

pub_type

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