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

IF 0.7 Q4 ONCOLOGY
Case Reports in Oncology Pub Date : 2025-05-28 eCollection Date: 2025-01-01 DOI:10.1159/000545803
Xiyan Ouyang, Yanli Li, Xin Li, Lingna Chai, Jie Shi, Han Gao
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引用次数: 0

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.

妊娠期神经纤维瘤病宫内爆发性生长伴妊娠中期胎儿死亡1例。
1型神经纤维瘤病(NF1)是最常见的常染色体显性遗传性疾病之一,发病率为1/ 3000。NF1的标志性临床特征包括咖啡奶斑、多发性神经纤维瘤、腋窝或腹股沟雀斑。大量研究表明,NF1患者的妊娠相关并发症发生率较高,包括胎儿生长受限和先兆子痫。病例介绍:本病例研究描述了一位患有NF1的孕妇,她在妊娠中期不幸经历了宫内胎儿死亡,并发展为先兆子痫和HELLP综合征。结论:本病例强调了对妊娠期NF1患者进行密切监测和管理的必要性,以及多学科合作和MDT随访的关键作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
1.40
自引率
12.50%
发文量
151
审稿时长
7 weeks
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