10669

Imaging View of Arterial Tortuosity Syndrome - Case Report

Article

Last updated: 03 Jan 2025

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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.
 

DOI

10.12816/0044535

Keywords

Arterial tortuosity, Vomiting, Fever

Authors

First Name

Saleh F

Last Name

Alqahtani

MiddleName

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Affiliation

College of Medicine, King Khalid University, Abha

Email

saleh.fahad777@gmail.com

City

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Orcid

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First Name

Mohammed A

Last Name

Algathradi

MiddleName

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Affiliation

College of Medicine, King Khalid University, Abha

Email

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City

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Orcid

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First Name

Ahmad A

Last Name

Alzoani

MiddleName

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Affiliation

Department of Neonatology, Abha Maternity and Children Hospital, Abha

Email

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City

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Orcid

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First Name

Abdullah A

Last Name

Alhayani

MiddleName

-

Affiliation

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

Email

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City

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Orcid

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First Name

Metrek

Last Name

Almetrek

MiddleName

-

Affiliation

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

Email

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City

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Orcid

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Volume

70

Article Issue

7

Related Issue

2081

Issue Date

2018-01-01

Receive Date

2018-08-10

Publish Date

2018-01-01

Page Start

1,117

Page End

1,120

Print ISSN

1687-2002

Online ISSN

2090-7125

Link

https://ejhm.journals.ekb.eg/article_10669.html

Detail API

https://ejhm.journals.ekb.eg/service?article_code=10669

Order

7

Type

Original Article

Type Code

606

Publication Type

Journal

Publication Title

The Egyptian Journal of Hospital Medicine

Publication Link

https://ejhm.journals.ekb.eg/

MainTitle

Imaging View of Arterial Tortuosity Syndrome - Case Report

Details

Type

Article

Created At

22 Jan 2023