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Case Report
  |   Neonatal Med_25_1_49_52.pdf
Neonatal Med February;25(1):49-52.
Published online 2018 February 28
Copyright ⓒ 2018 Neonatal Medicine Neonatal Medicine
Arterial Tortuosity Syndrome in a Neonate
Kyung Min Kim, Sun-Mi Hur, Ji Hong Yoon, Eun-Jung Lee, and Jae Young Lee
Department of Pediatrics, Seoul St. Mary’s Hospital, College of Medicine, the Catholic University of Korea, Seoul, Korea
Corresponding Author: Jae Young Lee , Tel: +82-2-2588-6189 , Fax: +82-2-537-4544 , Email: jaeyounglee@catholic.ac.kr
ABSTRACT
Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive connective tissue disease characterized by generalized elongation and tortuosity of the medium- to large-sized arteries, and other systemic connective tissue manifestations. To date, this disease entity has not been reported in Korea. We report a case of ATS diagnosed in a neonate who presented with severe elongation and tortuosity of the aorta and its major branches, as well as the intracranial arteries. Additionally, the patient presented with a tortuous dilatation of the inferior vena cava, an aneurysmal dilatation of the extra-hepatic bile ducts, and an inguinal and sliding hiatal hernia. The diagnosis was confirmed using DNA sequencing analysis, and the patient demonstrated a compound heterozygosity for two novel mutations (c.738delG [p.Gln247Serfs*33] and c.362T>C [p.Ile121Thr]) in exon 2 of the SLC2A10 gene. Genetic analysis also confirmed that both parents were heterozygous carriers of the responsible mutations. Owing to such clinical manifestations, ATS is often misdiagnosed as other connective tissue diseases including Loeys-Dietz syndrome, Marfan syndrome, and Ehlers-Danlos syndrome. In patients presenting with a high index of suspicion, thorough clinical evaluation and screening for ATS including computed tomography or magnetic resonance angiography and target gene analysis are necessary for early diagnosis and management.
Keywords: Vascular malformation, Connective tissue, Arterial tortuosity, Aortic aneurysm, Joint laxity
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