Whitney Robyn, AlMehmadi Sameer, McCoy Bláthnaid, Yau Ivanna, Ochi Ayako, Otsubo Hiroshi, Weiss Shelly K, Rutka James, Hazrati Lili-Naz, Snead O Carter, Go Cristina
Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Pediatr Neurol. 2017 Aug;73:92-97.e3. doi: 10.1016/j.pediatrneurol.2017.04.010. Epub 2017 Apr 18.
The presence of cerebral astrocytic inclusions recently has been described in a subset of children with early-onset refractory epilepsy, with or without structural brain malformations, and varying degrees of developmental delay.
We describe two new individuals with epilepsy with astrocytic inclusions and suggest that in some children this disorder may represent a unique hemispheric epilepsy. We review previously reported individuals with epilepsy with astrocytic inclusions.
Two children with early onset epilepsy with astrocytic inclusions had refractory clusters of epileptic spasms, developmental delay, abnormal neuroimaging, and hemispheric or diffuse interictal epileptiform discharges. In both children, the initial focal resection of the putative epileptogenic zone was unsuccessful and pathology failed to show astrocytic inclusions. Subsequently, both children underwent functional hemispherectomy due to ongoing clusters of epileptic spasms, and the presence of multilobar astrocytic inclusions was demonstrated. Postoperatively, both children have remained seizure free in the short-term with improved development.
We highlight that functional hemispherectomy may be required for seizure control in a select subset of children with clusters of epileptic spasms, astrocytic inclusions, and global developmental delay. Given the small number of documented patients, however, ongoing collaboration is needed to better understand the pathophysiology of this condition and determine the optimal way to diagnose and manage these children.
最近在一部分早发性难治性癫痫儿童中发现了脑星形细胞包涵体，这些儿童有或没有脑结构畸形，且存在不同程度的发育迟缓。
我们描述了两名患有癫痫并伴有星形细胞包涵体的新病例，并提出在一些儿童中，这种疾病可能代表一种独特的半球性癫痫。我们回顾了先前报道的患有癫痫并伴有星形细胞包涵体的病例。
两名患有早发性癫痫并伴有星形细胞包涵体的儿童出现难治性癫痫痉挛发作簇、发育迟缓、神经影像学异常以及半球性或弥漫性发作间期癫痫样放电。在这两名儿童中，最初对假定的致痫区进行局灶性切除均未成功，病理检查也未显示星形细胞包涵体。随后，由于癫痫痉挛发作簇持续存在，两名儿童均接受了功能性半球切除术，术后证实存在多叶星形细胞包涵体。术后，两名儿童短期内均无癫痫发作，发育情况有所改善。
我们强调对于一部分患有癫痫痉挛发作簇、星形细胞包涵体和全面发育迟缓的儿童，可能需要进行功能性半球切除术来控制癫痫发作。然而，鉴于记录在案的患者数量较少，需要持续开展合作以更好地了解这种疾病的病理生理学，并确定诊断和管理这些儿童的最佳方法。
