Watanabe Shuei, Murayama Akitoshi, Haginoya Kazuhiro, Tanaka Soichiro, Togashi Noriko, Abukawa Daiki, Sato Atsushi, Imaizumi Masue, Yoshikawa Hideto, Takayama Rumiko, Wakusawa Keisuke, Kobayashi Satoru, Sato Ikuko, Onuma Akira
Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Taihakuku, Sendai, Japan.
Brain Dev. 2012 Feb;34(2):151-5. doi: 10.1016/j.braindev.2011.03.010. Epub 2011 Apr 19.
Here, we report a male child with Schinzel-Giedion syndrome associated with intramyelinic edema detected on brain magnetic resonance imaging (MRI) and persistent suppression-burst pattern on electroencephalography (EEG) with erratic myoclonus of the extremities and face. Similar to nonketotic hyperglycinemia, Schinzel-Giedion syndrome may be recognized as another causative genetic disease of early myoclonic encephalopathy and vacuolating myelinopathy.
在此，我们报告一名患有申泽尔-吉迪恩综合征的男童，其脑部磁共振成像（MRI）检测到髓鞘内水肿，脑电图（EEG）显示持续的抑制-爆发模式，并伴有四肢和面部的不规律肌阵挛。与非酮症高甘氨酸血症相似，申泽尔-吉迪恩综合征可能被认为是早期肌阵挛性脑病和空泡性髓鞘病的另一种致病基因疾病。
