Parisi Cristiano, Candela-Cantó Santiago, Serrano Mercedes, Catala Albert, Aparicio Javier, Hinojosa José
Neurosurgery Unit, Neuroscience Department, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
Pediatric Neurosurgery Department, Sant Joan de Déu Barcelona Children's Hospital, Universitat de Barcelona, Barcelona, Spain.
Childs Nerv Syst. 2020 Nov;36(11):2851-2856. doi: 10.1007/s00381-020-04558-x. Epub 2020 Mar 13.
Vagus nerve stimulation (VNS) is a surgical treatment available for patients affected by generalized refractory epilepsy. The authors report the case of a 15-year-old girl affected by CHD2-related myoclonic encephalopathy and BLM haploinsufficiency due to a deletion of 15q25.3q26.2 region, who suffered from secondary hemophagocytic lymphohistiocytosis (SHLH) after a VNS wound infection. SHLH has sporadically been described in epileptic patients. Based on indirect evidence that shows immune dysregulation in patients with CHD2 mutations and BLM mutations, we hypothesize that the genetic background of this patient may have played a critical role in the development of the syndrome.
迷走神经刺激术（VNS）是一种可用于治疗全身性难治性癫痫患者的外科治疗方法。作者报告了一名15岁女孩的病例，该女孩因15q25.3q26.2区域缺失而患有CHD2相关的肌阵挛性脑病和BLM单倍体不足，在VNS伤口感染后患上了继发性噬血细胞性淋巴组织细胞增生症（SHLH）。SHLH在癫痫患者中曾有过零星报道。基于显示CHD2突变和BLM突变患者存在免疫失调的间接证据，我们推测该患者的遗传背景可能在该综合征的发生发展中起了关键作用。
