Department of Neurology, The Johns Hopkins Hospital, Baltimore, MD, USA.
Dev Med Child Neurol. 2010 Nov;52(11):988-93. doi: 10.1111/j.1469-8749.2010.03744.x. Epub 2010 Aug 16.
Doose syndrome, otherwise traditionally known as myoclonic-astatic epilepsy, was first described as a unique epilepsy syndrome by Dr Hermann Doose in 1970. In 1989, the International League Against Epilepsy classified it formally as a symptomatic generalized epilepsy, and 20 years later it was renamed 'epilepsy with myoclonic-atonic seizures'. In this review, we discuss the components of this unique disorder including its incidence, clinical features, and electroencephalographic findings. Recent evidence has suggested possible genetic links to the GEFS+ (generalized epilepsy with febrile seizures plus) family, and, additionally, some children with structural brain lesions can mimic the Doose syndrome phenotype. Treatment strategies such as corticosteroids, ethosuximide, and valproate have been described as only partially effective, but newer anticonvulsants, such as levetiracetam and zonisamide, may provide additional seizure control. The most effective treatment reported to date appears to be the ketogenic diet. Prognosis is quite varied in this disorder; however, many children can have a remarkably normal neurodevelopmental outcome.
杜斯（Doose）综合征，旧称肌阵挛-站立不能性癫痫，由 Hermann Doose 医生于 1970 年首次描述为一种独特的癫痫综合征。1989 年，国际抗癫痫联盟将其正式归类为症状性全面性癫痫，20 年后又更名为“肌阵挛-失张力发作性癫痫”。在这篇综述中，我们讨论了这一独特疾病的各个组成部分，包括其发病率、临床特征和脑电图表现。最近的证据表明，其可能与 GEFS+（热性惊厥附加全面性癫痫）家族存在遗传关联，此外，一些有结构性脑损伤的儿童可能会出现类似杜斯综合征的表型。曾有报道称，皮质类固醇、乙琥胺和丙戊酸钠等治疗策略仅部分有效，但新型抗癫痫药，如左乙拉西坦和唑尼沙胺，可能提供额外的癫痫控制。迄今为止，报告中最有效的治疗方法似乎是生酮饮食。这种疾病的预后差异很大；然而，许多儿童的神经发育结局都非常正常。
