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

## TL;DR

This case report highlights the radiologic diagnosis of arterial tortuosity syndrome in a one-year-old child, emphasizing early detection through imaging when genetic testing is not available.

## Contribution

The novelty lies in demonstrating how imaging can be used to diagnose ATS in the absence of genetic testing, aiding early intervention.

## Key findings

- Imaging revealed tortuosity and kinking of the aortic arch and left main pulmonary artery stenosis in a one-year-old.
- Early recognition of ATS through radiologic findings enabled planning for stenting in the absence of genetic testing.
- The case underscores the importance of multidisciplinary collaboration in managing rare connective tissue disorders.

## Abstract

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.