一名携带EEF1A2基因变异患者的舞蹈样手足徐动症成功治愈。
Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant.
作者信息
Lance Eboni I, Kronenbuerger Martin, Cohen Julie S, Furmanski Orion, Singer Harvey S, Fatemi Ali
机构信息
Department of Neurology, Kennedy Krieger Institute, Baltimore, MD, USA.
Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore, MD, USA.
出版信息
SAGE Open Med Case Rep. 2018 Oct 24;6:2050313X18807622. doi: 10.1177/2050313X18807622. eCollection 2018.
Pathogenic variants in , a gene encoding a eukaryotic translation elongation factor, have been previously reported in pediatric cases of epileptic encephalopathy and intellectual disability. We report a case of a 17-year-old male with a prior history of epilepsy, autism, intellectual disability, and the abrupt onset of choreo-athetotic movements. The patient was diagnosed with an variant by whole exome sequencing. His movement disorder responded dramatically to treatment with tetrabenazine. To the best of our knowledge, this is the first report of successful treatment of a hyperkinetic movement disorder in the setting of mutation. A trial with tetrabenazine should be considered in cases with significant choreoathetosis.
一种编码真核生物翻译延伸因子的基因中的致病性变异，此前已在小儿癫痫性脑病和智力残疾病例中被报道。我们报告了一例17岁男性病例，该患者有癫痫、自闭症、智力残疾病史，且突然出现舞蹈样手足徐动症。通过全外显子组测序，该患者被诊断出存在一种变异。他的运动障碍对丁苯那嗪治疗反应显著。据我们所知，这是首例关于在 突变情况下成功治疗运动过多性运动障碍的报告。对于有明显舞蹈样手足徐动症的病例，应考虑进行丁苯那嗪试验。
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