{"title":"档案综合症","authors":"M. Greeshma, M. Nair, S. Salim","doi":"10.4103/kjo.kjo_107_22","DOIUrl":null,"url":null,"abstract":"Aicardi syndrome is a rare neurodevelopmental disorder occurring primarily in female children. It is thought to have X-linked dominant inheritance and the affected male foetuses do not survive to term. A 3-year-old girl child with refractory infantile spasms and corpus callosal agenesis was found to have chorioretinal lacunae in the left eye on fundus examination. A clinical diagnosis of Aicardi syndrome was made which was confirmed with intracranial imaging.","PeriodicalId":32483,"journal":{"name":"Kerala Journal of Ophthalmology","volume":"88 8","pages":"83 - 85"},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Aicardi syndrome\",\"authors\":\"M. Greeshma, M. Nair, S. Salim\",\"doi\":\"10.4103/kjo.kjo_107_22\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Aicardi syndrome is a rare neurodevelopmental disorder occurring primarily in female children. It is thought to have X-linked dominant inheritance and the affected male foetuses do not survive to term. A 3-year-old girl child with refractory infantile spasms and corpus callosal agenesis was found to have chorioretinal lacunae in the left eye on fundus examination. A clinical diagnosis of Aicardi syndrome was made which was confirmed with intracranial imaging.\",\"PeriodicalId\":32483,\"journal\":{\"name\":\"Kerala Journal of Ophthalmology\",\"volume\":\"88 8\",\"pages\":\"83 - 85\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Kerala Journal of Ophthalmology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/kjo.kjo_107_22\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Kerala Journal of Ophthalmology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/kjo.kjo_107_22","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Aicardi syndrome is a rare neurodevelopmental disorder occurring primarily in female children. It is thought to have X-linked dominant inheritance and the affected male foetuses do not survive to term. A 3-year-old girl child with refractory infantile spasms and corpus callosal agenesis was found to have chorioretinal lacunae in the left eye on fundus examination. A clinical diagnosis of Aicardi syndrome was made which was confirmed with intracranial imaging.
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