新型 DYT6 肌张力障碍变异病例：报告一例深部脑刺激治疗后严重并发症的病例。
A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report.
机构信息
Department of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava and University Hospital Martin, Martin, Slovakia.
Biomedical Centre Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Bratislava, Slovakia.
出版信息
BMC Neurol. 2022 Sep 12;22(1):344. doi: 10.1186/s12883-022-02871-3.
BACKGROUND
DYT6 dystonia belongs to a group of isolated, genetically determined, generalized dystonia associated with mutations in the THAP1 gene.
CASE PRESENTATION
We present the case of a young patient with DYT6 dystonia associated with a newly discovered c14G>A (p.Cys5Tyr) mutation in the THAP1 gene. We describe the clinical phenotype of this new mutation, effect of pallidal deep brain stimulation (DBS), which was accompanied by two rare postimplantation complications: an early intracerebral hemorrhage and delayed epileptic seizures. Among the published case reports of patients with DYT6 dystonia, the mentioned complications have not been described so far.
CONCLUSIONS
DBS in the case of DYT6 dystonia is a challenge to thoroughly consider possible therapeutic benefits and potential risks associated with surgery. Genetic heterogeneity of the disease may also play an important role in predicting the development of the clinical phenotype as well as the effect of treatment including DBS. Therefore, it is beneficial to analyze the genetic and clinical relationships of DYT6 dystonia.
背景
DYT6 型肌张力障碍属于一组孤立的、遗传性确定的、与 THAP1 基因突变相关的全身性肌张力障碍。
病例介绍
我们报告了一例伴有新发现的 THAP1 基因 c14G>A(p.Cys5Tyr)突变的 DYT6 型肌张力障碍的年轻患者。我们描述了这种新突变的临床表型，以及苍白球深部脑刺激（DBS）的效果，其伴随着两种罕见的植入后并发症：早期脑出血和迟发性癫痫发作。在已发表的 DYT6 型肌张力障碍患者的病例报告中，迄今尚未描述所述并发症。
结论
DYT6 型肌张力障碍的 DBS 治疗是一个挑战，需要充分考虑手术相关的潜在治疗益处和风险。疾病的遗传异质性也可能在预测临床表型以及包括 DBS 在内的治疗效果方面发挥重要作用。因此，分析 DYT6 型肌张力障碍的遗传和临床关系是有益的。
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