Ahmed Shakeel, Ali Syed Rehan, Nadeem Naila, Hamid Muhammad
Department of Paediatrics, Bahria University Medical and Dental College, Karachi.
Department of Paediatrics, The Aga Khan University Hospital, Karachi.
J Coll Physicians Surg Pak. 2014 Nov;24 Suppl 3:S262-4.
Vascular Ehlers-Danlos Syndrome (VEDS), previously called Ehlers-Danlos syndrome type-IV, is a heterogeneous group of heritable connective tissue disorders characterized by thin, translucent skin, easy bruising, arterial, intestinal, and/or uterine fragility. There is large vessel involvement that leads to arterial rupture often preceded by aneurysm, arteriovenous fistulae, or dissection. Noninvasive imaging studies such as CT angiography and MR angiography are preferred as diagnostic studies for this condition. We are reporting a 4 years old girl who was presented with right sided unilateral convulsions and hypertension. CT angiogram showed stenosis with post-stenotic dilatation of coeliac and superior mesenteric arteries. There were extensive calcified plaques with atherosclerotic changes in the segment of right common iliac artery with aneurysmal dilatation of celiac, superior mesenteric and common iliac artery. Radiological findings were consistent with vascular Ehlers-Danlos syndrome. She was successfully managed with anti-hypertensive and anticonvulsants.
血管性埃勒斯-当洛综合征（VEDS），以前称为IV型埃勒斯-当洛综合征，是一组遗传性结缔组织疾病的异质性群体，其特征为皮肤薄而半透明、易瘀伤、动脉、肠道和/或子宫脆弱。存在大血管受累情况，常导致动脉瘤、动静脉瘘或夹层形成后发生动脉破裂。CT血管造影和MR血管造影等无创成像研究是诊断这种疾病的首选检查。我们报告一名4岁女孩，她出现右侧单侧惊厥和高血压。CT血管造影显示腹腔干和肠系膜上动脉狭窄伴狭窄后扩张。右髂总动脉段有广泛的钙化斑块及动脉粥样硬化改变，腹腔干、肠系膜上动脉和髂总动脉有动脉瘤样扩张。影像学表现符合血管性埃勒斯-当洛综合征。她通过抗高血压药和抗惊厥药成功得到治疗。
