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

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.

Figure 1.

Preoperative photo showing abdominal distention and previous laparotomy scar (labeled A), and previous colostomy site in the left upper quadrant (labeled B).

Figure 2.

Abdominal X-ray on admission showing nasogastric tube in the left upper quadrant (labeled A), and distended cecum in the right lower quadrant (labeled B).

Figure 3.

Axial CT scan showing distended bowel with air fluid levels (arrow).

Figure 4.

Coronal CT showing distended bowel in right lower quadrant (arrow).

Figure 5.

Intraoperative picture showing volvulized bowel (arrow) with mesenteric swirling and no evidence of bowel ischemia.