J. Funct. Morphol. Kinesiol. 2016, 1(2), 249-253; https://doi.org/10.3390/jfmk1020249
A Newborn with Arterial Tortuosity Syndrome: The Importance of Timely Diagnostic Work-Up in Patients Presenting with Cutis Laxa
1
Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Anichstrasse 35, A-6020 Innsbruck, Austria
2
Department of Pediatrics, Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria
3
Department of Pediatrics II, Neonatology, Medical University of Innsbruck, Anichstrasse 35, A-6020 Innsbruck, Austria
4
Department of Radiology, Medical University of Innsbruck, Anichstrasse 35, A-6020 Innsbruck, Austria
*
Author to whom correspondence should be addressed.
Academic Editor: Giuseppe Musumeci
Received: 6 April 2016 / Revised: 7 May 2016 / Accepted: 20 May 2016 / Published: 1 June 2016
Abstract
Arterial tortuosity syndrome (ATS) is a rare, autosomal recessively inherited connective tissue disorder characterized by severe and widespread arterial tortuosity of the aorta and of middle-sized arteries with an increased risk of aneurysm, dissection, and stenosis involving either the aorta or the pulmonary arteries or both. In this article, we report the clinical findings and molecular characterization of a newborn with ATS presenting with cutis laxa, respiratory distress, and dislocation of the nasogastric tube due to a gastric volvulus and an open pleuroperitoneal channel. Based on this case report, we emphasize early diagnostic work-up in all patients presenting with cutis laxa in order to prevent adverse cardiovascular events. Data suggests that early diagnosis is life-saving in these patients. View Full-TextKeywords:
arterial tortuosity syndrome; cutis laxa; SLC2A10/GLUT10
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Pichler, K.; Ralser, E.; Resch, M.; Steichen-Gersdorf, E.; Maurer, K.; Trawöger, R.; Kiechl-Kohlendorfer, U. A Newborn with Arterial Tortuosity Syndrome: The Importance of Timely Diagnostic Work-Up in Patients Presenting with Cutis Laxa. J. Funct. Morphol. Kinesiol. 2016, 1, 249-253.
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J. Funct. Morphol. Kinesiol.
EISSN 2411-5142
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