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Peroral endoscopic myotomy for treatment of achalasia in a patient with congenital osteogenesis imperfecta and scoliosisSupported by: National Key R&D Program of China 2019YFC1315800
Supported by: Yangfan Program of Shanghai Municipal Science and Technology Committee S2020–016
Supported by: Youth Foundation of Zhongshan Hospital, Fudan University 2020ZSQN16
Supported by: National Natural Science Foundation of China 82000507
Supported by: Major Project of Shanghai Municipal Science and Technology Committee 18ZR1406700 and 19441905200
Supported by: National Natural Science Foundation of China http://dx.doi.org/10.13039/501100001809 81902394
Supported by: Shanghai Rising-Star Program http://dx.doi.org/10.13039/501100013105 19QA1401900
A 22-year-old man was admitted because of dysphagia and regurgitation for half a year. Gastroscopy showed narrowing of the cardia ([Fig. 1]) and the upper gastrointestinal series showed the “bird’s beak” sign of the cardia and dilatation and distortion of the esophageal lumen ([Fig. 2]). The patient was diagnosed clinically as having achalasia. In addition, he had a previous history of osteogenesis imperfecta, a rare inherited bone disorder, from birth, with fragile bones that are easily broken. As a result, he had multiple malformations of his arms and legs, thoracocyllosis, and scoliosis, with a body weight of 55 kg and a sitting height of 50 cm ([Fig. 3]). Preoperative pulmonary function tests showed a moderate restrictive ventilatory impairment. Peroral endoscopic myotomy (POEM) was proposed after a full multidisciplinary discussion with the anesthesia, orthopedic, and respiratory departments.
The procedure involved four steps ([Video 1]). First, a mucosal incision was made at 6 o’clock about 8 cm proximal to the cardia. Second, submucosal longitudinal tunneling was performed across the cardia ([Fig. 4 a]). Owing to the thoracocyllosis and distortion of the esophageal lumen, it was important during the tunneling to recognize the direction of the muscle fibers and tunnel, with the tunnel needing to be created more carefully along the muscle to avoid mucosal injury and misdirection. Third, circular muscle myotomy was performed from 1 cm distal to the mucosal entry to 2 cm beyond the cardia ([Fig. 4 b]). After the myotomy, hemostasis was achieved with hot biopsy forceps ([Fig. 4 c]). Finally, the mucosal entry and areas of mucosal injury were closed with clips ([Fig. 4 d, e]). After the myotomy, the cardia was significantly enlarged ([Fig. 4 f]). The procedure duration was 30 minutes. The patient was discharged on postoperative day 6 after an uneventful recovery.
Video 1 The application of peroral endoscopic myotomy for a patient with multiple malformations, thoracocyllosis, and scoliosis, making the procedure more complicated and riskier than normal.
POEM has become widely accepted as a minimally invasive procedure for the treatment of achalasia. Here, we report the first case of achalasia in a patient with osteogenesis imperfecta that was managed by POEM. Owing to the patient’s multiple malformations, thoracocyllosis, scoliosis, impaired pulmonary function, and the distortion of the esophageal lumen, POEM was more complicated and riskier than normal. Importantly, the preoperative preparation, intraoperative monitoring, and postoperative nursing needed to be more carefully carried out by multidisciplinary team.
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Article published online:
02 December 2022
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