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Published on: February 1, 2018
Spinal Muscular Atrophy and Ependymoma
Aishah Albakr1, Faisal Abbas2, Hosam Al-Jehani2
1Department of Neurology, College of Medicine, University of Dammam, Dammam, Saudi Arabia.
Abstract:
Spinal muscular atrophy (SMA) is an autosomal recessive disorder, characterized by a progressive degeneration of anterior horn cells of the spinal cord resulting in hypotonia, skeletal muscle atrophy and weakness. We report the case of a 33-year-old female with SMA type IV (SMA4) who presented with symptoms of spinal cord lesion that was initially missed. Further evaluation resulted in the diagnosis of ependymoma. To the best of our knowledge, this is the first time that the coexistence of SMA4 and ependymoma has been reported.
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