Radiologic Diagnosis of Arterial Tortuosity Syndrome in a Pediatric Patient: A Case Report

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disease. It is mainly featured by elongation and tortuosity of the large and medium-sized arteries, along with connective tissue manifestations. In this report, we present a case of a one-year-old male who was diagnosed during the neonatal period after an episode of desaturation at birth, which required admission to the neonatal intensive care unit (NICU) for respiratory support. Imaging revealed tortuosity and kinking of the aortic arch along with left main pulmonary artery stenosis. The family was counselled and offered genetic testing. A multidisciplinary team meeting was held, which concluded with planning for left pulmonary stenosis stenting. The aim of this case is to emphasize the importance of early recognition and diagnosis of rare conditions like ATS through imaging in situations where genetic testing is unavailable.