Mei-Jiao Chen, Hong-Fu Li, Shanying Mao
Department of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China
Correspondence: Shanying Mao; Hong-Fu LiDepartment of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou 310009, ChinaEmail shanyingm@163.com; hongfuli@zju.edu.cn
Abstract: EhlersDanlos syndrome (EDS) type IV is characterized by thin skin with visible veins, easy bruising, characteristic facial features, arterial and digestive complications, as well as rupture of the gravid uterus. It has never been previously reported that trigeminal autonomic cephalalgias (TACs) could manifest as the only initial symptom of EDS type IV. Here, we report a case of a 27-year-old man who presented atypical headache like TACs stimulated by right internal carotid artery dissection. About one month after his discharge, he suffered dissection of the right renal artery and splenic artery, in addition to partial infarction of the right kidney and spleen. Genetic testing revealed a novel splicing variant c.799-1G>A within COL3A1. He was ultimately diagnosed with EhlersDanlos syndrome type IV. This case expanded the genetic spectrum and clinical manifestation of EDS type IV and provided a significant implication for the diagnosis of EDS type IV when the initial symptom manifested as TACs, not the typical presentation of EDS type IV.
Keywords: trigeminal autonomic cephalalgias, internal carotid artery dissection, EhlersDanlos syndrome, whole exome sequencing, Sanger sequencing
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Trigeminal Autonomic Cephalalgias Manifested As The Only Initial Sympt | JPR - Dove Medical Press
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