Arterial tortuosity syndrome
Arterial tortuosity syndrome
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. However, ATS has not been reported in Korea. Here, we report a case of ATS diagnosed in a neonate who presented with severe elongation and tortuosity of the aorta and its major branches, and intracranial arteries. The baby also presented with tortuous dilatation of inferior vena cava, aneurysmal dilatation of extra-hepatic bile duct, inguinal hernia, and siding hiatal hernia. The diagnosis was confirmed by DNA sequencing analysis. The patient was a compound heterozygous 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 with mutations: c.738delG (p.Gln247Serfs*33) in father and c.362T>C (p.Ile121Thr) in mother. Owing to those clinical manifestations, ATS is often misdiagnosed as other connective tissue diseases, including Loeys Dietz syndrome, Marfan syndrome and Ehlers-Danlos syndrome. Clinical suspicion and screening for ATS including CT angiography and gene analysis is necessary for early diagnosis and management.