{"title":"Neurofibromatosis Type 1 with Arnold Chiari Type 1 Malformation in A Child","authors":"Hae Young Ro, S. Yoon, Woo Ri Jang, Y. Kwon","doi":"10.26815/acn.2023.00087","DOIUrl":null,"url":null,"abstract":"Neurocutaneous disorders primarily affect the central and peripheral nervous systems, as well as the skin, and can ultimately lead to the development of tumors in these organs. Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous syndromes, with a reported incidence of approximately 1 in 2,600 to 1 in 3,000 individuals [1]. It is an autosomal dominant genetic disorder caused by pathogenic variants of the NF1 tumor suppressor gene located on chro-mosome 17q11.2","PeriodicalId":33305,"journal":{"name":"Annals of Child Neurology","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Child Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.26815/acn.2023.00087","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Neurocutaneous disorders primarily affect the central and peripheral nervous systems, as well as the skin, and can ultimately lead to the development of tumors in these organs. Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous syndromes, with a reported incidence of approximately 1 in 2,600 to 1 in 3,000 individuals [1]. It is an autosomal dominant genetic disorder caused by pathogenic variants of the NF1 tumor suppressor gene located on chro-mosome 17q11.2