Spinal Muscular Atrophy and Ependymoma

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Albakr, Aishah, Abbas, Faisal, Al-Jehani, Hosam, Ammar, Ahmed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298370/
https://www.ncbi.nlm.nih.gov/pubmed/30787777
http://dx.doi.org/10.4103/1658-631X.204857
Descripción
Sumario: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.

Ejemplares similares