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  • Title: Vascular Ehlers-Danlos syndrome: a rare disorder presenting with focal convulsions.
    Author: Ahmed S, Ali SR, Nadeem N, Hamid M.
    Journal: J Coll Physicians Surg Pak; 2014 Nov; 24 Suppl 3():S262-4. PubMed ID: 25518796.
    Abstract:
    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.
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