Imaging View of Arterial Tortuosity Syndrome - Case Report

Alqahtani, Saleh F; Algathradi, Mohammed A; Alzoani, Ahmad A; Alhayani, Abdullah A; Almetrek, Metrek

doi:10.12816/0044535

Imaging View of Arterial Tortuosity Syndrome - Case Report

Document Type : Original Article

Authors

¹ College of Medicine, King Khalid University, Abha

² Department of Neonatology, Abha Maternity and Children Hospital, Abha

³ Department of Pediatrics, Abha Maternity and Children Hospital, Abha, Saudi Arabia

⁴ Joint Program of Postgraduate Residency Training Program of Family Medicine in Khamis Mushayte

10.12816/0044535

Abstract

ABSTRACT
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 feverfor 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.

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