Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA.
Pediatr Neurol. 2010 Oct;43(4):297-9. doi: 10.1016/j.pediatrneurol.2010.05.015.
Prader-Willi syndrome is a chromosomal disorder caused by absence of expression of the paternal active genes in the 15q11∼q13 chromosome region; it is associated with an increased incidence of epilepsy and narcolepsy. Presented here is the case of a 2.5-year-old boy with Prader-Willi syndrome and a history of neonatal superior sagittal sinus thrombosis with new onset of atonic seizures with electrographic onset from the parasagittal region. It is postulated that microscarring from neonatal venous sinus thrombosis, history of febrile seizures, and Prader-Willi syndrome are factors predisposing him to epilepsy. The importance of video electroencephalography with electromyography electrodes is emphasized for Prader-Willi syndrome patients with drop episodes, to differentiate cataplexy from seizures. This being a novel report of a Prader-Willi syndrome patient with atonic seizures, the literature on seizure semiology among patients with Prader-Willi syndrome is reviewed.
普拉德-威利综合征是一种由 15q11∼q13 染色体区域父源活性基因缺失引起的染色体疾病；它与癫痫和发作性睡病的发病率增加有关。本文介绍了一例 2.5 岁患有普拉德-威利综合征的男孩，该患儿有新生儿上矢状窦血栓形成病史，出现新的非典型失神发作，脑电图起始于矢状旁区。推测新生儿静脉窦血栓形成的微瘢痕、热性惊厥病史和普拉德-威利综合征是导致他癫痫的易感因素。强调对于有跌倒发作的普拉德-威利综合征患者，应进行视频脑电图和肌电图电极检查，以区分猝倒和发作。这是普拉德-威利综合征患者出现非典型失神发作的新报告，因此对普拉德-威利综合征患者的发作症候学文献进行了回顾。
