Arterial Tortuosity Syndrome in a Neonate

Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive connective tis sue disease characterized by generalized elongation and tortuosity of the medium to largesized 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 extrahepatic bile ducts, and an inguinal and sliding hiatal hernia. The diagnosis was confirmed using DNA sequencing analysis, and the patient demonstrated a com pound 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 confirm ed 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 LoeysDietz syndrome, Marfan syndrome, and EhlersDanlos syn drome. In patients presenting with a high index of suspicion, thorough clinical evalu ation and screening for ATS including computed tomography or magnetic resonance angiography and target gene analysis are necessary for early diagnosis and manage ment.