日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

Double aortic arch (DAA) is a common condition resulting in vascular ring formation. Prader–Willi syndrome (PWS) is a congenital malformation that causes feeding difficulties due to hypotonia, particularly in the neonatal to infancy period, and can sometimes lead to respiratory problems. Currently, there are no documented cases of PWS accompanied by DAA. Our patient was a girl diagnosed with PWS who was being monitored at another hospital. When the patient was 1 year and 6 months old, she was rushed to our hospital because of inspiratory stridor. After further examination, she was diagnosed as DAA. Although she had residual mild inspiratory stridor, no hypoxemia or difficulty in breathing forcefully was noted. Therefore, she was discharged and planned for elective surgery. Unfortunately, 17 days after discharge, she died while eating at home. In this case, hypotonia and respiratory problems associated with PWS made the diagnosis of DAA challenging and led to worsening of symptoms. Therefore, in patients with vascular rings who present with hypotonia and dysphagia, immediate diagnosis and treatment are essential.