Rasmussen syndrome: an atypical presentation in ten patients
Rasmussen syndrome: an atypical presentation in ten patients
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DOI：
10.1684/epd.2018.1007
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发表时间：
2018-12-01
影响因子：
2.3
通讯作者：
Bartuluchi, Marcelo
中科院分区：
文献类型：
--
作者：
Caraballo, Roberto H.;Reyes Valenzuela, Gabriela;Bartuluchi, Marcelo
瞄准本研究的目的是分析具有不典型表现的Rasmussen综合征（RS）患者的电临床和影像学表现及预后。我们对1999年至2017年期间随访的44例具有非典型特征的连续RS患者中的10例进行了回顾性描述性研究。6名患者为男孩，4名为女孩。癫痫发作时的平均和中位年龄分别为8.8岁和6.5岁（范围：4.6-13岁）。除一名患者外，所有患者均出现癫痫发作。8例患者（80%）患有持续性部分性癫痫，平均年龄为7.5岁（范围：7-15岁）。在我们的系列，偏瘫无癫痫发作是第一个表现在三个病人，其中一人有双重病理。在两名患者中，第一个表现是运动障碍，其次是迟发性癫痫发作与单侧尾状核萎缩。2例患者有一个局灶性病变，模仿局灶性皮质发育不良作为第一个MRI异常;这2例患者中的一个有癫痫痉挛簇。3例患者在病程中观察到双侧大脑半球受累。8例患者中有6例对手术治疗反应良好。进行性轻偏瘫单独或延迟发作的癫痫发作，与癫痫发作相关的运动障碍，局灶性病变模仿局灶性皮质发育不良，和双侧脑受累是公认的非典型特征。我们的患者对手术反应良好。临床、视频脑电图和神经放射学随访对于RS的早期确认非常重要，以便对病情进行适当的管理。
Aim. The aim of this study was to analyse the electroclinical and imaging findings and outcome of patients with Rasmussen syndrome (RS) with atypical manifestations.Methods. We conducted a retrospective, descriptive study of 10 of 44 consecutive patients with RS with atypical features, followed between 1999 and 2017.Results. Six patients were boys and four were girls. The mean and median ages at onset of the seizures were 8.8 and 6.5 years, respectively (range: 4.6-13 years). All of the patients except one had seizures. Eight patients (80%) had epilepsia partialis continua that started at a mean age of 7.5 years (range: 7-15 years). In our series, hemiparesis without seizures was the first manifestation in three patients, one of whom had dual pathology. In two patients, the first manifestation was dyskinetic movements, followed by delayed-onset seizures associated with unilateral caudate atrophy. Two patients had a focal lesion mimicking focal cortical dysplasia as the first MRI abnormality; one of these two patients had epileptic spasms in clusters. Bilateral cerebral hemisphere involvement was observed in three patients during the course of the disease. Six of eight patients responded well to surgical treatment.Conclusions. Progressive hemiparesis alone or with delayed-onset seizures, dyskinetic movements associated with seizures, a focal lesion mimicking focal cortical dysplasia, and bilateral brain involvement were the atypical features recognized. Our series of patients responded well to surgery. Clinical, video-EEG, and neuroradiological follow-up is important for early confirmation of RS in order to initiate adequate management of the condition.