Neurofibromatosis Type 1 Associated With Moyamoya Syndrome in Children

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• 作者：Anna Duat-Rodr铆guez ; Fern ; o Carceller Lech贸n ; Miguel 脕ngel L贸pez Pino ; Cristina Rodr铆guez Fern谩ndez ; Luis Gonz谩lez-Guti茅rrez-Solana
• 关键词：moyamoya ; neurofibromatosis type 1 ; cerebrovascular ; childhood
• 刊名：Pediatric Neurology
• 出版年：January, 2014
• 年：2014
• 卷：50
• 期：1
• 页码：96-98
• 全文大小：387 K

文摘

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.