Peroral endoscopic myotomy for treatment of achalasia in a patient with congenital osteogenesis imperfecta and scoliosis

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 1cm distal to the mucosal entry to 2 cm beyond the cardia (▶Fig. 4b). 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. 4d, e). After the myotomy, the cardia was E-Videos