Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient

Abstract: Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ephelides in skin fold areas, as well as hamartomatous lesions in the eyes, bones, glands, and central nervous system. Moyamoya disease is a rare progressive vaso-occlusive disorder that occurs with important ischemic cerebrovascular events. Despite the rarity of this association in childhood, children diagnosed with neurofibromatosis type 1 and focal neurologic symptoms should be investigated for moyamoya syndrome. The present study reports the case of a pediatric patient with a rapidly progressive cerebrovascular accident and a late diagnosis of Neurofibromatosis type 1 associated with moyamoya disease.

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Bibliographic Details
Main Authors: Serafini,Natália Battisti, Serafini,Cássio Battisti, Vinhas,Alanna Santoro, Godinho,Marcio Barbosa
Format: Digital revista
Language:English
Published: Sociedade Brasileira de Dermatologia 2017
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962017000600870
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