Alqahtani, S., Algathradi, M., Alzoani, A., Alhayani, A., Almetrek, M. (2018). Imaging View of Arterial Tortuosity Syndrome - Case Report. The Egyptian Journal of Hospital Medicine, 70(7), 1117-1120. doi: 10.12816/0044535
Saleh F Alqahtani; Mohammed A Algathradi; Ahmad A Alzoani; Abdullah A Alhayani; Metrek Almetrek. "Imaging View of Arterial Tortuosity Syndrome - Case Report". The Egyptian Journal of Hospital Medicine, 70, 7, 2018, 1117-1120. doi: 10.12816/0044535
Alqahtani, S., Algathradi, M., Alzoani, A., Alhayani, A., Almetrek, M. (2018). 'Imaging View of Arterial Tortuosity Syndrome - Case Report', The Egyptian Journal of Hospital Medicine, 70(7), pp. 1117-1120. doi: 10.12816/0044535
Alqahtani, S., Algathradi, M., Alzoani, A., Alhayani, A., Almetrek, M. Imaging View of Arterial Tortuosity Syndrome - Case Report. The Egyptian Journal of Hospital Medicine, 2018; 70(7): 1117-1120. doi: 10.12816/0044535
Imaging View of Arterial Tortuosity Syndrome - Case Report
1College of Medicine, King Khalid University, Abha
2Department of Neonatology, Abha Maternity and Children Hospital, Abha
3Department of Pediatrics, Abha Maternity and Children Hospital, Abha, Saudi Arabia
4Joint Program of Postgraduate Residency Training Program of Family Medicine in Khamis Mushayte
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.