Publications by authors named "Fleur Aubart Cohen"
Article Synopsis
- - Susac syndrome is a rare inflammatory condition affecting small blood vessels in the brain, eyes, and ears, primarily impacting young women, and is thought to stem from a type of vasculitis.
- - Diagnosis is based on a triad of symptoms: 1) subacute encephalopathy with unique headaches and psychiatric-like features along with brain lesions visible on MRI, 2) potential eye issues including retinal artery occlusions, and 3) cochlear damage causing low-frequency hearing loss.
- - Treatment starts with high doses of corticosteroids, and if symptoms are severe or recur, immunomodulatory drugs may be needed; while most patients eventually recover, they often face mild but persistent issues like hearing loss and cognitive challenges
Background: Severe osteoarthritis and thoracic aortic aneurysms have recently been associated with mutations in the SMAD3 gene, but the full clinical spectrum is incompletely defined.
Methods: All SMAD3 gene mutation carriers coming to our centre and their families were investigated prospectively with a structured panel including standardized clinical workup, blood tests, total body computed tomography, joint X-rays. Electroneuromyography was performed in selected cases.
Susac syndrome is characterized by the clinical triad of encephalopathy, hearing loss, and retinal artery branch occlusions, mostly in young women. To our knowledge, long-term outcome and impact of pregnancy have not been specifically addressed. We report a series of 9 patients (7 female, 2 male) followed at the same institution, with special emphasis on clinical outcome including pregnancy and long-term sequelae.
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