Multiple strokes and bilateral carotid dissections: a fulminant case of newly diagnosed Ehlers-Danlos syndrome type IV

Journal of the Neurological Sciences
C Dohle, J M Baehring

Abstract

Ehlers-Danlos Syndrome is a rare group of inheritable disorders resulting in abnormal collagen production, leading to skin fragility, joint hypermobility and easy bruising. Six major subtypes have been identified, of which Type IV most often leads to neurovascular complications, may lead to inner organ rupture and overall has the worst prognosis. Early recognition followed by genetic testing is key, since this diagnosis will guide decision making in the management of complications, influence the choice of antiplatelet medications versus anticoagulants and allow for potentially affected family members to be identified, undergo genetic testing and reproductive counseling. We here report the case of a 50 year old woman with a fulminant presentation of Ehlers Danlos Syndrome Type IV, including bilateral carotid and vertebral artery dissection, multiple strokes and liver rupture. Of note, this patient did not have a known history or obvious clinical features of connective tissue disease. Genetic testing confirmed the diagnosis. Review of her family history revealed multiple family members with a history of aortic dissection or aneurysm rupture. This case illustrates that Ehlers Danlos Syndrome Type IV is an important differential di...Continue Reading

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Citations

Jan 10, 2014·Current Neurology and Neuroscience Reports·Shivang G JoshiHerbert G Markley
Aug 26, 2014·Seminars in Pediatric Neurology·Amitha L AnanthTimothy B Lotze
Aug 12, 2016·Interventional Neuroradiology : Journal of Peritherapeutic Neuroradiology, Surgical Procedures and Related Neurosciences·Sarasa T KimDavid F Kallmes
Jul 11, 2021·Journal of Neurointerventional Surgery·Fawaz Al-MuftiUNKNOWN SNIS Standards and Guidelines Committee and SNIS Board of Directors

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