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¹Second Affiliated Hospital, Faculty of Medicine, Department of Neurosurgery, Hangzhou, Zhejiang Province, China
²Loma Linda University, Faculty of Medicine, Department of Physiology, Loma Linda, California, USA
³Affiliated Hospital, Hangzhou Normal University, Faculty of Medicine, Department of Neurosurgery, Hangzhou, Zhejiang Province, China DOI : 10.5137/1019-5149.JTN.7941-13.0 Arterial tortuosity syndrome (ATS) is an extremely rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of all major arteries. We report a clinical case of a girl with this rare condition, who initially presented with epilepsy. DSA or MRA revealed a severe arterial tortuosity. EEG showed epileptiform discharge in right frontotemporal hemisphere. Here, we report the first case of ATS presenting with epilepsy. We discussed the possible clinical implications of this rare clinical presentation. Moreover, we suggest that some patients presenting with epilepsy might need serious cerebral vascular evaluation and ATS needs to be considered in the differential diagnosis. Keywords : Arterial tortuosity syndrome, Epilepsy, Digital subtraction angiography