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, an...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Dermatologia
2017-12-01
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| Series: | Anais Brasileiros de Dermatologia |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962017000600870&tlng=en |
| _version_ | 1819284683277467648 |
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| author | Natália Battisti Serafini Cássio Battisti Serafini Alanna Santoro Vinhas Marcio Barbosa Godinho |
| author_facet | Natália Battisti Serafini Cássio Battisti Serafini Alanna Santoro Vinhas Marcio Barbosa Godinho |
| author_sort | Natália Battisti Serafini |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-24T01:51:16Z |
| format | Article |
| id | doaj.art-9ee1494d05704f2fb125f02027e70a54 |
| institution | Directory Open Access Journal |
| issn | 0365-0596 |
| language | English |
| last_indexed | 2024-12-24T01:51:16Z |
| publishDate | 2017-12-01 |
| publisher | Sociedade Brasileira de Dermatologia |
| record_format | Article |
| series | Anais Brasileiros de Dermatologia |
| spelling | doaj.art-9ee1494d05704f2fb125f02027e70a542022-12-21T17:21:44ZengSociedade Brasileira de DermatologiaAnais Brasileiros de Dermatologia0365-05962017-12-0192687087310.1590/abd1806-4841.20176829Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patientNatália Battisti SerafiniCássio Battisti SerafiniAlanna Santoro VinhasMarcio Barbosa GodinhoAbstract: 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962017000600870&tlng=enClinical diagnosisMoyamoya diseaseNeurofibromatosis 1 |
| spellingShingle | Natália Battisti Serafini Cássio Battisti Serafini Alanna Santoro Vinhas Marcio Barbosa Godinho Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient Anais Brasileiros de Dermatologia Clinical diagnosis Moyamoya disease Neurofibromatosis 1 |
| title | Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient |
| title_full | Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient |
| title_fullStr | Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient |
| title_full_unstemmed | Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient |
| title_short | Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient |
| title_sort | moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient |
| topic | Clinical diagnosis Moyamoya disease Neurofibromatosis 1 |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962017000600870&tlng=en |
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