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.
CITATION STYLE
Serafini, N. B., Serafini, C. B., Vinhas, A. S., & Godinho, M. B. (2017). Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient. Anais Brasileiros de Dermatologia, 92(6), 870–873. https://doi.org/10.1590/abd1806-4841.20176829
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