Suppr超能文献

一名患有拉布伦综合征和1型神经纤维瘤病的女性妊娠的病例报告及讨论。

Case report and discussion of pregnancy in a woman with Labrune syndrome and neurofibromatosis type 1.

作者信息

Wilson Alison, Hensiek Anke, Jones Megan

机构信息

Department of Obstetrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

Department of Neurosciences, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

出版信息

Obstet Med. 2024 Dec;17(4):240-242. doi: 10.1177/1753495X221149161. Epub 2023 Jan 8.

Abstract

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.

摘要

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。

相似文献

4
Labrune Syndrome: A Very Rare Association of Leukoencephalopathy, Cerebral Calcifications, and Cysts.
Indian J Radiol Imaging. 2021 Nov 13;31(3):772-775. doi: 10.1055/s-0041-1736398. eCollection 2021 Jul.
5
Leukoencephalopathy, calcifications, and cysts: Labrune syndrome.白质脑病、钙化和囊肿:拉布伦综合征。
Radiol Case Rep. 2022 Nov 28;18(2):584-590. doi: 10.1016/j.radcr.2022.11.026. eCollection 2023 Feb.
6
8
Labrune Syndrome: A Rare Leukodystrophy.
Cureus. 2023 May 21;15(5):e39287. doi: 10.7759/cureus.39287. eCollection 2023 May.
9
Leukoencephalopathy, cerebral calcifications, and cysts in two sisters.两姐妹患有白质脑病、脑钙化和囊肿。
Pediatr Neurol. 2014 Oct;51(4):576-9. doi: 10.1016/j.pediatrneurol.2014.06.007. Epub 2014 Jun 24.

本文引用的文献

5
7
Anesthetic management of labor and delivery in patients with elevated intracranial pressure.颅内压升高患者分娩期的麻醉管理
Int J Obstet Anesth. 2015 May;24(2):147-60. doi: 10.1016/j.ijoa.2015.01.004. Epub 2015 Jan 19.
10
An adult case of leukoencephalopathy with intracranial calcifications and cysts.
Neurology. 2006 Nov 28;67(10):1890-2. doi: 10.1212/01.wnl.0000244470.06748.18.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验