Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient

Anais Brasileiros De Dermatologia
Natália Battisti SerafiniMarcio Barbosa Godinho


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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Jun 24, 2014·Italian Journal of Pediatrics·Euthymia VargiamiDimitrios I Zafeiriou

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Jan 25, 2021·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·Fouad MitriMarkus Kraemer

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Methods Mentioned

nuclear magnetic resonance

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