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一名年轻女性发生关节挛缩、腹裂、盲肠扭转和恶性高热的罕见合并症:病例报告。

An Unusual Combination of Arthrogryposis, Gastroschisis, Cecal Volvulus, and Malignant Hyperthermia in a Young Woman: A Case Report.

机构信息

Department of Translational Medicine, Herbert Wertheim College of Medicine at Florida International University, Miami, FL, USA.

Division of General Surgery, Memorial Healthcare System, Pembroke Pines, FL, USA.

出版信息

Am J Case Rep. 2023 Jan 13;24:e938031. doi: 10.12659/AJCR.938031.

Abstract

BACKGROUND The purpose of this study is to discuss a patient with a history of conditions, including arthrogryposis, gastroschisis, and malignant hyperthermia, who presented with cecal volvulus requiring urgent surgical intervention. CASE REPORT A 29-year-old woman with a history of arthrogryposis, gastroschisis, malignant hyperthermia, and multiple childhood abdominal surgeries presents to the Emergency Department (ED) with 2 days of abdominal pain and bloody diarrhea. A CT abdomen/pelvis revealed findings concerning for a cecal volvulus. The patient was premedicated and monitored closely by the anesthesia team due to her history of malignant hyperthermia. She underwent an exploratory laparotomy, where a dilated cecum and proximal ascending colon were found to be completely volvulized around the mesentery. Manual bowel detorsion was performed, which resulted in reperfusion of the ischemic-appearing bowel, which then appeared viable. She recovered well after the procedure and was discharged on postoperative day 5. CONCLUSIONS This case highlights a patient who presented with a combination of 4 findings: arthrogryposis, gastroschisis, malignant hyperthermia, and cecal volvulus. With arthrogryposis reported to be associated with gastroschisis and malignant hyperthermia, this report not only corroborates this association, but also aims to draw attention to the fact that these conditions have potential to occur jointly with cecal volvulus. Given the patient's history of gastroschisis requiring extensive abdominal surgeries that contribute as risk factors for cecal volvulus, it is possible there may be other arthrogryposis patients who present with cecal volvulus similar to that seen in this patient.

摘要

背景

本研究旨在讨论一位患有多种疾病的患者,包括先天性关节挛缩症、腹裂和恶性高热,该患者因盲肠扭转需要紧急手术干预。

病例报告

一位 29 岁女性,患有先天性关节挛缩症、腹裂、恶性高热和多次儿童腹部手术史,因腹痛和血性腹泻就诊于急诊部。腹部/骨盆 CT 显示盲肠扭转的征象。由于恶性高热病史,麻醉团队对患者进行了预用药和密切监测。患者接受了剖腹探查术,术中发现扩张的盲肠和近端升结肠完全围绕系膜扭转。手动肠复位,缺血样肠恢复灌注,随后外观存活。术后第 5 天,患者恢复良好出院。

结论

本病例突出了一位患者同时存在 4 种表现:先天性关节挛缩症、腹裂、恶性高热和盲肠扭转。已有报道称先天性关节挛缩症与腹裂和恶性高热相关,本报告不仅证实了这种关联,还旨在引起人们注意这些情况有可能与盲肠扭转同时发生。鉴于患者的腹裂病史需要广泛的腹部手术,这是导致盲肠扭转的危险因素,因此可能有其他类似该患者的患有盲肠扭转的先天性关节挛缩症患者。

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