Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient

AUTOR(ES)

Serafini, Natália Battisti, Serafini, Cássio Battisti, Vinhas, Alanna Santoro, Godinho, Marcio Barbosa

FONTE

An. Bras. Dermatol.

DATA DE PUBLICAÇÃO

2017-12

RESUMO

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.

Documentos Relacionados

• Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.
• Lung cancer and parenchymal lung disease in a patient with neurofibromatosis type 1
• A 90 kb DNA deletion associated with neurofibromatosis type 1.
• A rare case of cervical hypoglossal nerve neurofibromas in a patient with type 1 neurofibromatosis
• Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?