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一例孕期神经纤维瘤病爆发性生长并于孕中期胎儿死亡的宫内病例:病例报告

An Intrauterine Case of Explosive Growth of Neurofibromatosis during Pregnancy with Fetal Death in Mid-Pregnancy: A Case Report.

作者信息

Ouyang Xiyan, Li Yanli, Li Xin, Chai Lingna, Shi Jie, Gao Han

机构信息

Medical College, Wuhan University of Science and Technology, Wuhan, China.

Department of Gynecology, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

出版信息

Case Rep Oncol. 2025 May 28;18(1):630-637. doi: 10.1159/000545803. eCollection 2025 Jan-Dec.

Abstract

INTRODUCTION

Neurofibromatosis type 1 (NF1) is one of the most prevalent autosomal dominant inherited diseases, with an incidence rate of 1/3,000. The hallmark clinical features of NF1 include coffee milk spots, multiple neurofibromas, and freckles in the armpit or groin. Numerous studies have indicated a higher incidence of pregnancy-related complications in patients with NF1, including fetal growth restriction and preeclampsia.

CASE PRESENTATION

This case study describes a pregnant woman with NF1 who unfortunately experienced intrauterine fetal death during her second trimester and developed preeclampsia and HELLP syndrome.

CONCLUSION

This case highlights the need for close monitoring and management of patients with NF1 during pregnancy and the critical role of multidisciplinary collaboration and follow-up of MDT.

摘要

引言

1型神经纤维瘤病(NF1)是最常见的常染色体显性遗传病之一,发病率为1/3000。NF1的标志性临床特征包括牛奶咖啡斑、多发性神经纤维瘤以及腋窝或腹股沟雀斑。大量研究表明,NF1患者妊娠相关并发症的发生率较高,包括胎儿生长受限和先兆子痫。

病例报告

本病例研究描述了一名患有NF1的孕妇,她在孕中期不幸发生宫内胎儿死亡,并发展为先兆子痫和HELLP综合征。

结论

本病例强调了孕期对NF1患者进行密切监测和管理的必要性,以及多学科协作和多学科团队随访的关键作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1bc3/12119077/976ac308d58b/cro-2025-0018-0001-545803_F01.jpg

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