«Atrofia muscular espinal y epilepsia progresiva de mioclónico: inforemo de un acso y características del síndrome epiléptico.»
Pasquale Striano, Patrizia Boccella, Chiara Sarappa and Salvatore Striano,
Department of Neurological Sciences, Epilepsy Center, Federico II University, Via Pansini 5, 80131, Naples, Italy
Introduction: Spinal muscular atrophies (SMAs) are a group of degenerative diseases primarily affecting the anterior horn cells of the spinal cord and motor cells of cranial nerve nuclei. Even if the clinical picture is mainly dominated by the diffuse muscular atrophy, in some cases, patients may show associated, atypical clinical features («SMA plus»). In particular, the association of SMA and progressive myoclonic epilepsy (PME) has been rarely described.
Case report: We present the clinical and electrophysiological data of a boy with childhood-onset SMA associated with PME and reviewed cases of the literature.
Conclusion: The association of SMA with PME may constitute a separate and, probably, genetically independent syndrome with unique clinical and electroencephalographic findings or, at least, a variant of a neurodegenerative or metabolic disease, due to yet unknown causes.
Seizure Volume 13, Issue 8 , December 2004, Pages 582-586.