目的:EAST综合征包括癫痫,共济失调,感觉神经性耳聋,还有肾小管病.它是由KCNJ10基因突变引起的。文献中报道的病例不到30例,重点是基因突变和肾小管病。在这篇文章中,我们的目标是全面描述癫痫及其治疗.还提供了文献综述,以巩固我们的发现并将其与先前报告的病例进行比较。
方法:进行回顾性图表回顾以收集患者数据。组织研究诊所以获取缺失数据。分子遗传学检测是在CGC遗传学实验室进行的。对所有患者进行了脑电图(EEG),并由小儿癫痫学家进行了解释,并由小儿神经放射学家对脑部MRI进行了审查。发育评估是由发育儿科医生使用Griffiths精神发育量表进行的。
结果:在EAST综合征患者中,癫痫发作是3-4个月大的首发症状。最常见的癫痫发作类型为全身强直阵挛性(GTC)。通常,癫痫发作短暂持续<3分钟,但少数患者也出现癫痫持续状态,特别是当药物断奶时。卡马西平(CBZ)在大多数情况下是有效的。拉莫三嗪(LTG),丙戊酸(VPA),托吡酯(TPM)也有帮助。常规脑电图通常正常或显示非特异性结果。在少数患者中,脑电图显示背景减慢。脑部MRI显示某些患者的齿状核强度过高,定量体积分析研究表明,大脑不同区域尤其是小脑的体积减少。我们的所有五名患者都具有相同的纯合子c.170C>T(p。KCNJ10基因Thr57Ile)错义突变。
结论:本文为读者提供了对该综合征中癫痫的自然史的了解,以帮助早期识别,避免不必要的调查,为癫痫提供最好的治疗方法.它还有助于医生与父母分享这种罕见综合征的预后。
OBJECTIVE: EAST syndrome comprises of epilepsy, ataxia, sensorineural deafness, and tubulopathy. It is caused by a mutation in KCNJ10 gene. Less than thirty cases have been reported in the literature with emphasis on genetic mutation and renal tubulopathy. In this article, our goal is to present a comprehensive description of epilepsy and its management. A literature review is also presented to consolidate and compare our findings with the previously reported cases.
METHODS: Retrospective chart review was done to collect patient data. Research clinic was organized to obtain missing data. Molecular genetic testing was done at the CGC Genetics Laboratory. Electroencephalogram (EEG) was done for all patients and interpreted by a pediatric epileptologist and brain MRI was reviewed by a pediatric neuroradiologist. Developmental assessment was done by a developmental pediatrician using Griffiths Mental Developmental Scale.
RESULTS: In patients with EAST syndrome, seizure is the first symptom occurring around 3-4 months of age. Most common seizure type was generalized tonic clonic (GTC). Usually, the seizures were brief lasting <3 min but few patients also presented with status epilepticus especially when the medication was weaned. Carbamazepine (CBZ) was found to be effective in most cases. Lamotrigine (LTG), valproic acid (VPA), and topiramate (TPM) were also found to be helpful. Routine EEGs were usually normal or showed non-specific findings. In few patients, EEG showed background slowing. Brain MRI revealed hyperintensity in the dentate nuclei in some patients, and quantitative volumetric analysis studies showed volume loss in different regions of the brain especially the cerebellum. All our five patients have the same homozygous c.170C>T (p.Thr57Ile) missense mutation in KCNJ10 gene.
CONCLUSIONS: This article provides the readers with an understanding of the natural history of epilepsy in this syndrome to help in early recognition, avoid unnecessary investigations, and provide the best treatment for seizures. It also helps the physicians to share the prognosis of this rare syndrome with the parents.