{"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}
引用次数: 0
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.