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Radicular dysfunction due to spinal deformities in Marfan syndrome at older age: Three case reports

Radicular dysfunction due to spinal deformities in Marfan syndrome at older age: Three case reports,10.1016/j.ejmg.2009.10.006,European Journal of Med

Radicular dysfunction due to spinal deformities in Marfan syndrome at older age: Three case reports  
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Marfan syndrome is a inherited connective tissue disorder due to mutations in fibrillin-1. It presents with cardiovascular, ocular, skeletal, pulmonary and dural signs and symptoms. Some of the symptoms of later onset are those associated with scoliosis and dural ectasia. This is the enlargement of the neural canal especially in the lower lumbar and sacral region and occurs in over 90% of Marfan patients.We here report three patients with lumbar and/or sacral radiculopathy due to (kypho)scoliosis and dural ectasia with spinal meningeal cysts. The pain, muscle weakness, muscle atrophy, and sensory disturbances illustrate the severe neurological complications which may occur in Marfan syndrome, especially at later age. Awareness of these complications and development of management protocols is essential since life expectancy of Marfan patients has increased. Marfan syndrome might gradually become recognized as an inherited connective tissue disorder with potentially severe neurological complications during ageing.
Journal: European Journal of Medical Genetics - EUR J MED GENET , vol. 53, no. 1, pp. 35-39, 2010
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