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.