{"title":"病例报告:豹综合征白质信号异常的偶然发现","authors":"J. N. Mapaga, Mikel J. Martínez, P. K. Ndouongo","doi":"10.31254/jmr.2022.8402","DOIUrl":null,"url":null,"abstract":"Multiple Lentigines syndrome is an autosomal dominant inherited disorder of variable expressivity also known by the acronym LEOPARD syndrome. A rare disease with multiple congenital anomalies, mainly characterized by skin, facial and cardiac anomalies. Other malformations can be encountered, in particular cerebral and dysmorphic. We report the case of a 40-year-old female patient known for a Leopard syndrome, who in the context of bilateral hypoacusis, the cerebral MRI carried out finds a lesion in flair hypersignal at the asymptomatic left occipital level, we do not note any evolution of this lesion after 10 years this could correspond to \"unidentified shiny object: OFU\". In conclusion, LEOPARD syndrome is a disease with a multi-systemic involvement, the discovery of a lesion corresponding to an OFU\" is possible.","PeriodicalId":50132,"journal":{"name":"Journal of Medical Research","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Case Report: Fortuitous discovery of a white matter signal abnormality in the context of Leopard syndrome\",\"authors\":\"J. N. Mapaga, Mikel J. Martínez, P. K. Ndouongo\",\"doi\":\"10.31254/jmr.2022.8402\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Multiple Lentigines syndrome is an autosomal dominant inherited disorder of variable expressivity also known by the acronym LEOPARD syndrome. A rare disease with multiple congenital anomalies, mainly characterized by skin, facial and cardiac anomalies. Other malformations can be encountered, in particular cerebral and dysmorphic. We report the case of a 40-year-old female patient known for a Leopard syndrome, who in the context of bilateral hypoacusis, the cerebral MRI carried out finds a lesion in flair hypersignal at the asymptomatic left occipital level, we do not note any evolution of this lesion after 10 years this could correspond to \\\"unidentified shiny object: OFU\\\". In conclusion, LEOPARD syndrome is a disease with a multi-systemic involvement, the discovery of a lesion corresponding to an OFU\\\" is possible.\",\"PeriodicalId\":50132,\"journal\":{\"name\":\"Journal of Medical Research\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-08-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Medical Research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.31254/jmr.2022.8402\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medical Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.31254/jmr.2022.8402","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Case Report: Fortuitous discovery of a white matter signal abnormality in the context of Leopard syndrome
Multiple Lentigines syndrome is an autosomal dominant inherited disorder of variable expressivity also known by the acronym LEOPARD syndrome. A rare disease with multiple congenital anomalies, mainly characterized by skin, facial and cardiac anomalies. Other malformations can be encountered, in particular cerebral and dysmorphic. We report the case of a 40-year-old female patient known for a Leopard syndrome, who in the context of bilateral hypoacusis, the cerebral MRI carried out finds a lesion in flair hypersignal at the asymptomatic left occipital level, we do not note any evolution of this lesion after 10 years this could correspond to "unidentified shiny object: OFU". In conclusion, LEOPARD syndrome is a disease with a multi-systemic involvement, the discovery of a lesion corresponding to an OFU" is possible.