13 January 2023: Articles
An Unusual Combination of Arthrogryposis, Gastroschisis, Cecal Volvulus, and Malignant Hyperthermia in a Young Woman: A Case Report
Educational Purpose (only if useful for a systematic review or synthesis), Rare coexistence of disease or pathology
Justin Yeh B , Amro Al Ashi A , Jennifer Hernandez E* , Christopher Seaver ADOI: 10.12659/AJCR.938031
Am J Case Rep 2023; 24:e938031
Table 1. Summary of conditions and relation to the patient.
| Condition | Description | Case patient |
|---|---|---|
| Arthrogryposis | Arthrogryposis is a congenital condition characterized by contracture of 2 or more body parts [–]. Approximately 10% of individuals with amyoplasia (the most common form of arthrogryposis) present with abdominal abnormalities such as gastroschisis [28]. The incidence of arthrogryposis in the United States is estimated to be 0.03% of live births [,,,]1 | The patient had a noticeable skull deformation, as well as chronic contractures in her upper and lower extremities bilaterally, consistent with arthrogryposis. She had a history of gastroschisis requiring multiple abdominal surgeries |
| Gastroschisis | Gastroschisis is a congenital condition caused by paraumbilical protrusion of viscera with no membranous cover [,]. Herniated viscera, including small and large bowel, liver, spleen, and bladder, are at a risk of stenosis or atresia, leading to further complications, including volvulus, vascular insufficiency, and necrosis [,,]. Gastroschisis is most commonly located to the right of the intact umbilical cord and affects 0.045% of live births [,,]10 | The patient had a history of multiple abdominal surgeries, including gastroschisis closure with multiple revisions and colostomy with eventual reversal in 2011 |
| Malignant Hyperthermia | Malignant hyperthermia (MH) is an autosomal dominant, hypermetabolic, life-threatening condition described as development of an adverse reaction after exposure to certain anesthetic groups, including volatile inhaled anesthetics and nitric oxide [,]. In the United States, the incidence of MH is estimated to be 0.02% in the adult population and 0.01% in the pediatric population, with variable ranges existing in the literature [,]23 | The patient experienced a past episode of malignant hyperthermia after succinylcholine administration during one of her several orthopedic procedures |
| Cecal Volvulus | Cecal volvulus is the axial malrotation of the colon, including the cecum, ascending colon, and ileum. The etiology of cecal volvulus is multifactorial and involves hypermobility of the cecum [–]. Risk factors for cecal volvulus include a history of abdominal surgery secondary to postoperative adhesion formation, malrotation, and colonic distention []. In the United States, the incidence of cecal volvulus is 2.8–7.1 per million [,]20 | The patient’s colon had redundancy, elongated mesentery, and adhesions that enabled the colon to twist upon itself, effectively resulting in a volvulus. Her adhesions were likely due to her history of multiple abdominal surgeries |