IF 1.3 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL
Sipei Cheng, Rou Yu
{"title":"Perioperative management of cesarean section in pregnant women complicated by central core disease: A case report and literature review.","authors":"Sipei Cheng, Rou Yu","doi":"10.1097/MD.0000000000042089","DOIUrl":null,"url":null,"abstract":"<p><strong>Rationale: </strong>The central core disease (CCD) is a relatively uncommon yet frequently encountered condition characterized by slow or nonprogressive weakness primarily affecting the proximal limbs, predominantly observed during infancy or childhood. Pregnancy combined with CCD is an exceedingly rare occurrence, which needs a multidisciplinary approach for perinatal management. However, there remains considerable debate regarding the optimal timing and methodology for pregnancy termination as well as the utilization of anesthesia or sedatives.</p><p><strong>Patient concerns: </strong>We present a case of a patient complicated by CCD, in which we also identified a family carrying a missense mutation of RYR1 (NM_000540) c.13910 C>T (exon 95), p.T4637I (heterozygous). The patient uneventfully delivered a female neonate via cesarean section under continuous epidural anesthesia.</p><p><strong>Diagnoses: </strong>The patient, a 27-year-old pregnant woman with complications of CCD and a missense mutation of RYR1, expressed the desire to terminate her pregnancy.</p><p><strong>Intervention: </strong>Multiple protocols of anesthesia management were developed based on the patient's specific condition and surgical requirements, which included scheduled surgery under neuraxial anesthesia, as well as preparation of general anesthetic drugs, dantrolene sodium, airway devices, and specialized anesthesia machines for emergencies such as cord prolapse or fetal bradycardia.</p><p><strong>Outcomes: </strong>The cesarean section went smoothly with continuous epidural anesthesia at the L3-4 and T12-L1 intervertebral space with the catheter inserted upwards at T12-L1, and downwards at L3-4. The patient and her baby were discharged after 4 days without any complications related to anesthesia.</p><p><strong>Lessons: </strong>The identification of a CCD family in our case not only contributes to a deeper understanding of anesthesia methods in CCD pregnant women but also enriches the variation database of the RYR1 gene, which is essential for conducting long-term follow-up studies.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 14","pages":"e42089"},"PeriodicalIF":1.3000,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MD.0000000000042089","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0

摘要

理论依据:中枢神经核心疾病(CCD)是一种相对少见但又经常出现的疾病,其特点是缓慢或非进行性肢体无力,主要影响近端肢体,在婴儿期或儿童期发病率较高。妊娠合并 CCD 的情况极为罕见,需要采用多学科方法进行围产期管理。然而,关于终止妊娠的最佳时机和方法以及麻醉或镇静剂的使用,仍存在大量争议:我们介绍了一例 CCD 并发症患者的病例,在该病例中,我们还发现了一个携带 RYR1(NM_000540)c.13910 C>T(外显子 95),p.T4637I(杂合子)错义突变的家族。患者在连续硬膜外麻醉下通过剖腹产顺利产下一名女婴:患者是一名 27 岁的孕妇,患有 CCD 并发症和 RYR1 错义突变,她表示希望终止妊娠:根据患者的具体病情和手术要求,制定了多种麻醉管理方案,包括神经麻醉下的计划手术,以及全身麻醉药物、丹曲林钠、气道装置和专用麻醉机的准备,以应对脐带脱垂或胎儿心动过缓等紧急情况:在 L3-4 和 T12-L1 椎间隙持续硬膜外麻醉,导管向上插入 T12-L1,向下插入 L3-4,剖腹产手术顺利进行。4 天后,患者及其婴儿出院,未出现任何与麻醉相关的并发症:启示:在我们的病例中发现了一个 CCD 家族,这不仅有助于加深对 CCD 孕妇麻醉方法的理解,还丰富了 RYR1 基因的变异数据库,这对开展长期随访研究至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Perioperative management of cesarean section in pregnant women complicated by central core disease: A case report and literature review.

Rationale: The central core disease (CCD) is a relatively uncommon yet frequently encountered condition characterized by slow or nonprogressive weakness primarily affecting the proximal limbs, predominantly observed during infancy or childhood. Pregnancy combined with CCD is an exceedingly rare occurrence, which needs a multidisciplinary approach for perinatal management. However, there remains considerable debate regarding the optimal timing and methodology for pregnancy termination as well as the utilization of anesthesia or sedatives.

Patient concerns: We present a case of a patient complicated by CCD, in which we also identified a family carrying a missense mutation of RYR1 (NM_000540) c.13910 C>T (exon 95), p.T4637I (heterozygous). The patient uneventfully delivered a female neonate via cesarean section under continuous epidural anesthesia.

Diagnoses: The patient, a 27-year-old pregnant woman with complications of CCD and a missense mutation of RYR1, expressed the desire to terminate her pregnancy.

Intervention: Multiple protocols of anesthesia management were developed based on the patient's specific condition and surgical requirements, which included scheduled surgery under neuraxial anesthesia, as well as preparation of general anesthetic drugs, dantrolene sodium, airway devices, and specialized anesthesia machines for emergencies such as cord prolapse or fetal bradycardia.

Outcomes: The cesarean section went smoothly with continuous epidural anesthesia at the L3-4 and T12-L1 intervertebral space with the catheter inserted upwards at T12-L1, and downwards at L3-4. The patient and her baby were discharged after 4 days without any complications related to anesthesia.

Lessons: The identification of a CCD family in our case not only contributes to a deeper understanding of anesthesia methods in CCD pregnant women but also enriches the variation database of the RYR1 gene, which is essential for conducting long-term follow-up studies.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Medicine
Medicine 医学-医学:内科
CiteScore
2.80
自引率
0.00%
发文量
4342
审稿时长
>12 weeks
期刊介绍: Medicine is now a fully open access journal, providing authors with a distinctive new service offering continuous publication of original research across a broad spectrum of medical scientific disciplines and sub-specialties. As an open access title, Medicine will continue to provide authors with an established, trusted platform for the publication of their work. To ensure the ongoing quality of Medicine’s content, the peer-review process will only accept content that is scientifically, technically and ethically sound, and in compliance with standard reporting guidelines.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信