{"title":"1例阴唇综合征合并1型神经纤维瘤病妇女妊娠的病例报告和讨论","authors":"Alison Wilson, Anke Hensiek, Megan Jones","doi":"10.1177/1753495X221149161","DOIUrl":null,"url":null,"abstract":"<p><p>Labrune syndrome is a rare neurological autosomal recessive condition characterised by leukoencephalopathy, cerebral calcification and parenchymal cysts. Pregnancy has not been previously reported in an individual with this condition. This case report details the pregnancy of a primiparous woman with Labrune syndrome and neurofibromatosis type 1 who experienced a seizure in the second trimester of pregnancy, but went on to deliver her baby at term with good outcome for mother and baby. The case highlights the importance of pre-pregnancy advice in women with genetic conditions, and a multidisciplinary approach to the care of women with rare and complicated medical conditions during pregnancy.</p>","PeriodicalId":51717,"journal":{"name":"Obstetric Medicine","volume":" ","pages":"240-242"},"PeriodicalIF":0.8000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11615973/pdf/","citationCount":"0","resultStr":"{\"title\":\"Case report and discussion of pregnancy in a woman with Labrune syndrome and neurofibromatosis type 1.\",\"authors\":\"Alison Wilson, Anke Hensiek, Megan Jones\",\"doi\":\"10.1177/1753495X221149161\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Labrune syndrome is a rare neurological autosomal recessive condition characterised by leukoencephalopathy, cerebral calcification and parenchymal cysts. Pregnancy has not been previously reported in an individual with this condition. This case report details the pregnancy of a primiparous woman with Labrune syndrome and neurofibromatosis type 1 who experienced a seizure in the second trimester of pregnancy, but went on to deliver her baby at term with good outcome for mother and baby. The case highlights the importance of pre-pregnancy advice in women with genetic conditions, and a multidisciplinary approach to the care of women with rare and complicated medical conditions during pregnancy.</p>\",\"PeriodicalId\":51717,\"journal\":{\"name\":\"Obstetric Medicine\",\"volume\":\" \",\"pages\":\"240-242\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2024-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11615973/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Obstetric Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/1753495X221149161\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/1/8 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Obstetric Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/1753495X221149161","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/1/8 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
Case report and discussion of pregnancy in a woman with Labrune syndrome and neurofibromatosis type 1.
Labrune syndrome is a rare neurological autosomal recessive condition characterised by leukoencephalopathy, cerebral calcification and parenchymal cysts. Pregnancy has not been previously reported in an individual with this condition. This case report details the pregnancy of a primiparous woman with Labrune syndrome and neurofibromatosis type 1 who experienced a seizure in the second trimester of pregnancy, but went on to deliver her baby at term with good outcome for mother and baby. The case highlights the importance of pre-pregnancy advice in women with genetic conditions, and a multidisciplinary approach to the care of women with rare and complicated medical conditions during pregnancy.