Imaging View of Arterial Tortuosity Syndrome - Case Report

摘要

Background: Arterial tortuosity syndrome is one of the autosomal recessive diseases and caused by alterations (mutations) in the SLC2A10 gene. It is a rare disorder worldwide and in Saudi Arabia. Its prevalence is unknown. In the medical literature, about 100 cases have been reported. Objectives: An approach for how to diagnose a case of arterial tortuosity in newborn. Material and methods: A radiological view report of a case aged 21 days old female baby patient presented to emergency department with vomiting and fever for one week. Results: She was managed in Abha Maternity and Child Hospital and referred to the tertiary center for advanced management and follow up. Conclusion: Arterial tortuosity syndrome usually presents with a different set of clinical features among reported cases and its manifestations going with the mutation type.