Imaging View of Arterial Tortuosity Syndrome - Case Report | ||||
The Egyptian Journal of Hospital Medicine | ||||
Article 7, Volume 70, Issue 7, January 2018, Page 1117-1120 PDF (405.68 K) | ||||
Document Type: Original Article | ||||
DOI: 10.12816/0044535 | ||||
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Authors | ||||
Saleh F Alqahtani ![]() | ||||
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. | ||||
Keywords | ||||
Arterial tortuosity; Vomiting; Fever | ||||
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