Wilson Alison, Hensiek Anke, Jones Megan
Department of Obstetrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Department of Neurosciences, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Obstet Med. 2024 Dec;17(4):240-242. doi: 10.1177/1753495X221149161. Epub 2023 Jan 8.
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.
拉布伦综合征是一种罕见的常染色体隐性神经疾病,其特征为白质脑病、脑钙化和实质囊肿。此前尚无该疾病患者怀孕的报道。本病例报告详细介绍了一名患有拉布伦综合征和1型神经纤维瘤病的初产妇的怀孕情况,该产妇在妊娠中期发生癫痫,但足月分娩,母婴结局良好。该病例强调了对患有遗传疾病的女性进行孕前咨询的重要性,以及在孕期对患有罕见复杂疾病的女性采取多学科护理方法的重要性。