Striano Pasquale, Boccella Patrizia, Sarappa Chiara, Striano Salvatore
Department of Neurological Sciences, Epilepsy Center, Federico II University, Via Pansini 5, 80131 Naples, Italy.
Seizure. 2004 Dec;13(8):582-6. doi: 10.1016/j.seizure.2004.01.008.
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.
We present the clinical and electrophysiological data of a boy with childhood-onset SMA associated with PME and reviewed cases of the literature.
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.
脊髓性肌萎缩症（SMA）是一组主要影响脊髓前角细胞和颅神经核运动细胞的退行性疾病。即使临床表现主要以弥漫性肌肉萎缩为主，但在某些情况下，患者可能会出现相关的非典型临床特征（“SMA 加征”）。特别是，SMA 与进行性肌阵挛癫痫（PME）的关联很少被描述。
我们展示了一名患有儿童期起病的 SMA 并伴有 PME 的男孩的临床和电生理数据，并回顾了文献中的病例。
SMA 与 PME 的关联可能构成一种独立的、可能在遗传上独立的综合征，具有独特的临床和脑电图表现，或者至少是一种由于未知原因导致的神经退行性或代谢性疾病的变体。
