泛酸激酶相关神经退行性变的虎眼标志。

Case Reports in Radiology Pub Date : 2021-05-07 eCollection Date: 2021-01-01 DOI:10.1155/2021/6633217

S Choayb, H Adil, Daoud Ali Mohamed, N Allali, L Chat, S El Haddad

{"title":"泛酸激酶相关神经退行性变的虎眼标志。","authors":"S Choayb, H Adil, Daoud Ali Mohamed, N Allali, L Chat, S El Haddad","doi":"10.1155/2021/6633217","DOIUrl":null,"url":null,"abstract":"Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation caused by a recessive mutation in pantothenate kinase 2 gene (PANK2). We present a case of an 11 year-old boy presenting extrapyramidal signs and developmental regression. T2-weighted images showed the classic eye of the tiger sign seen in pantothenate kinase-associated neurodegeneration.","PeriodicalId":30326,"journal":{"name":"Case Reports in Radiology","volume":" ","pages":"6633217"},"PeriodicalIF":0.0000,"publicationDate":"2021-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8121601/pdf/","citationCount":"2","resultStr":"{\"title\":\"Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration.\",\"authors\":\"S Choayb, H Adil, Daoud Ali Mohamed, N Allali, L Chat, S El Haddad\",\"doi\":\"10.1155/2021/6633217\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation caused by a recessive mutation in pantothenate kinase 2 gene (PANK2). We present a case of an 11 year-old boy presenting extrapyramidal signs and developmental regression. T2-weighted images showed the classic eye of the tiger sign seen in pantothenate kinase-associated neurodegeneration.\",\"PeriodicalId\":30326,\"journal\":{\"name\":\"Case Reports in Radiology\",\"volume\":\" \",\"pages\":\"6633217\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-05-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8121601/pdf/\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Radiology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/2021/6633217\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2021/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Radiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2021/6633217","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2021/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}

引用次数: 2

摘要

泛酸激酶相关神经变性(PKAN)是一种罕见的疾病，与脑铁积累有关，由泛酸激酶2基因(PANK2)的隐性突变引起。我们提出一个11岁男孩的情况下，表现出锥体外系征象和发育倒退。t2加权图像显示泛酸激酶相关神经变性的典型虎眼征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

摘要图片

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration.

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation caused by a recessive mutation in pantothenate kinase 2 gene (PANK2). We present a case of an 11 year-old boy presenting extrapyramidal signs and developmental regression. T2-weighted images showed the classic eye of the tiger sign seen in pantothenate kinase-associated neurodegeneration.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Case Reports in Radiology

自引率

0.00%

发文量