Centro Epilessia, Azienda Ospedaliera San Paolo, MilanoCentro Epilessia, Azienda Ospedaliera San Paolo, Milano.
Epileptic Disord. 2011 Jun;13(2):125-32. doi: 10.1684/epd.2011.0426.
Patients with Down syndrome are now living longer and the overall prevalence of epilepsy is increasing, however, full characterisation of epilepsy in adult age is still incomplete. We describe the electroclinical characteristics of epilepsy in 22 adult patients with Down syndrome (11 males, 11 females), with a mean age of 46 years (range: 28-64 years), followed at the Epilepsy Centre, San Paolo Hospital in Milan. Mean age at epilepsy onset was 36.8 years (range: 6-60 years). Nine out of 22 patients had focal epilepsy, while nine had late-onset myoclonic epilepsy. In four patients, epilepsy was unclassified. The EEG pattern of our patients was characterised by a progressive slowing of the background activity with sharp-and-slow waves with frontal predominance. In the patients diagnosed with late-onset myoclonic epilepsy, the EEGs showed generalised polyspike waves. Three subjects had an episode of myoclonic status epilepticus at the beginning or in the course of the disorder. After the first descriptions of late-onset myoclonic epilepsy by Genton and Paglia (1994), this is one of the largest patient cohorts reported. Our data confirm that epilepsy in adult patients with Down syndrome presents peculiar electroclinical characteristics which should be recognized early as prompt, effective treatment may be beneficial. [Published with video sequences].
唐氏综合征患者现在的寿命更长，癫痫的总体患病率也在增加，然而，成人癫痫的全面特征仍不完全清楚。我们描述了 22 例唐氏综合征成年患者（男性 11 例，女性 11 例）的临床电特征，这些患者的平均年龄为 46 岁（范围：28-64 岁），在米兰圣保禄医院癫痫中心接受随访。癫痫发作的平均年龄为 36.8 岁（范围：6-60 岁）。22 例患者中有 9 例患有局灶性癫痫，9 例患有迟发性肌阵挛性癫痫。4 例患者的癫痫发作分类不明确。我们患者的脑电图模式的特征是背景活动逐渐减慢，伴有额区优势的尖慢波。在被诊断为迟发性肌阵挛性癫痫的患者中，脑电图显示出广泛的多棘波。3 名患者在疾病开始或进展过程中出现肌阵挛性癫痫持续状态。在 Genton 和 Paglia（1994 年）首次描述迟发性肌阵挛性癫痫之后，这是报告的最大患者队列之一。我们的数据证实，唐氏综合征成年患者的癫痫具有特殊的临床电特征，应及早识别，因为及时、有效的治疗可能有益。[附有视频序列]。
