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. This case aims to emphasize the importance of early recognition and diagnosis of rare conditions like ATS through imaging in situations where genetic testing is unavailable.

Amina Alkooheji is a pathology resident at Royal Medical Services – Military Hospital (RMS-MH) and a graduate of the Royal College of Surgeons in Ireland – Medical University of Bahrain (RCSI–MUB), holding an MB BCh BAO degree. This publication represents her first scholarly contribution to the medical literature, marking an important early step in her academic and research development.