Imaging View of Arterial Tortuosity Syndrome - Case Report
Journal Title: The Egyptian Journal of Hospital Medicine - Year 2018, Vol 70, Issue 7
Abstract
<strong>ABSTRACT</strong><br /> <strong>Background: </strong>Arterial tortuosity syndrome is one of the autosomal recessive diseases and caused by alterations (mutations) in the <em>SLC2A10 </em>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.<br /> <strong>Objectives: </strong>An approach for how to diagnose a case of arterial tortuosity in newborn.<br /> <strong>Material and methods: </strong>A radiological view report of a case aged 21 days old female baby patient presented to emergency department with vomiting and feverfor one week.<br /> <strong>Results: </strong>She was managed in Abha Maternity and Child Hospital and referred to the tertiary center for advanced management and follow up.<br /> <strong>Conclusion: </strong>Arterial tortuosity syndrome usually presents with a different set of clinical features among reported cases and its manifestations going with the mutation type.<br />
Authors and Affiliations
Eman Helal
Keywords
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