Imaging View of Arterial Tortuosity Syndrome - Case Report | ||
| The Egyptian Journal of Hospital Medicine | ||
| Article 7, Volume 70, Issue 7, January 2018, Pages 1117-1120 PDF (405.68 K) | ||
| Document Type: Original Article | ||
| DOI: 10.12816/0044535 | ||
| Authors | ||
| Saleh F Alqahtani* 1; Mohammed A Algathradi1; Ahmad A Alzoani2; Abdullah A Alhayani3; Metrek Almetrek4 | ||
| 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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