Perioperative management of cesarean section in pregnant women complicated by central core disease: A case report and literature review

被引:0
|
作者
Cheng, Sipei [1 ,2 ]
Yu, Rou [1 ,2 ]
机构
[1] Sichuan Univ, West China Second Univ Hosp, Dept Anesthesiol, 20,Sect 3,South Renmin Rd, Chengdu 610041, Peoples R China
[2] Sichuan Univ, Minist Educ, Key Lab Birth Defects & Related Dis Women & Childr, Chengdu, Sichuan, Peoples R China
关键词
case report; central core disease; pregnancy; RYR1; gene; MALIGNANT HYPERTHERMIA; RYR1; MUTATIONS; MYOPATHIES;
D O I
10.1097/MD.0000000000042089
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
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页数:4
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