Jähn Johanna, Caliebe Almuth, von Spiczak Sarah, Boor Rainer, Stefanova Irina, Stephani Ulrich, Helbig Ingo, Muhle Hiltrud
Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.
J Child Neurol. 2013 Jul;28(7):937-41. doi: 10.1177/0883073812451497. Epub 2012 Jul 25.
CDKL5 mutations cause severe epilepsy in infancy with subsequent epileptic encephalopathy. As yet, few studies report on long-term observations in patients with CDKL5-related epileptic encephalopathy. In this study, we describe the evolution of the epilepsy phenotype and the electroencephalographic (EEG) features in 4 patients during a maximum observation period of 22 years. All 4 patients had epilepsy starting with focal seizures in the first 3 months of life, evolving to epileptic spasms between the ages of 2 and 6 years and later on to tonic seizures. In 3 patients, epilepsy was resistant to antiepileptic therapy. Although there was no common EEG pattern in all patients, late hypsarrhythmia until the age of 9 years was observed in 2 patients. CDKL5-related epileptic encephalopathies are a group of refractory seizure disorders starting in early infancy. The phenomenon of late hypsarrhythmia may help define a subgroup of patients with severe and adverse outcomes.
CDKL5突变导致婴儿期严重癫痫并随后发展为癫痫性脑病。迄今为止，关于CDKL5相关癫痫性脑病患者的长期观察研究报道较少。在本研究中，我们描述了4例患者在长达22年的最大观察期内癫痫表型的演变及脑电图（EEG）特征。所有4例患者癫痫均始于生命的前3个月，表现为局灶性发作，在2至6岁之间演变为癫痫痉挛，随后发展为强直发作。3例患者对抗癫痫治疗耐药。虽然所有患者脑电图无共同模式，但2例患者在9岁前出现了晚期高峰失律。CDKL5相关癫痫性脑病是一组始于婴儿早期的难治性癫痫障碍。晚期高峰失律现象可能有助于定义一组预后严重不良的患者亚组。
