Bilateral Cervical-Artery Dissection Associated with Leri-Weill Dyschondrosteosis. A Case Report and Literature Review (P01.022)

Abstract

Objective: To report the first case of spontaneous cervical-artery dissection (sCAD) associated with Leri-Weill dyschondrosteosis (LWD) and a comprehensive review of the literature. Background CAD is a major cause of cerebral ischemia in young adults. Skin biopsies from many patients with sCAD show mild connective tissue alterations. An underlying arteriopathy, which could be in part genetically determined, is believed to have a role in the development of sCAD. There are few case reports of sCAD in patients with inherited connective tissue disorders like Ehlers-Danlos syndrome, Marfan syndrome or Osteogenesis Imperfecta. LWD is an osteochondrodysplasia whith mesomelic short stature and Madelung deformity of the wrist. Expression of LWD is variable but the clinical features are generally more severe in females. In around 70% of cases, LWD is caused by haploinsufficiency of the short stature homeobox (SHOX) gene and remains unknown in the remaining 30%. Design/Methods: Case report followed by a literature review. Results: A 36-years-old woman was admitted in July 2009 for sudden-onset right hemiplegia and Wernicke aphasia. Her NIHSS was 9. Her past medical history consisted in LWD and hypothyroidism treated with levothyroxine sodium. She had had no injuries during the previous days or weeks. The diffusion-weighted MRI showed a left carotid infarct. Laboratory test results and cardiac explorations were normal. Magnetic resonance angiography combined with T1-weighted with the fat-saturation technique confirmed bilateral carotid artery dissection. Anticoagulation was conducted for 6 months then was relayed by antiplatelet. When last seen in April, 2011, the patient had only minor aphasia and the MRI was back to normal. Conclusions: Even though this association is rare, screening patients with sCAD for clinical signs that are suggestive of connective tissue seems important. In such cases, a longer and closer follow-up is recommended because of the heightened risk of recurrence. Disclosure: Dr. Bonnet has nothing to disclose. Dr. Cogez has nothing to disclose. Dr. Bataille has nothing to disclose. Dr. Defer has received personal compensation for activities with BiogenIdec, Novartis, Teva Pharmaceutical Industries Ltd, Merck Serono, and Guerbet. Dr. Viader has nothing to disclose.