Epilepsy Unit, Department of Neurology, Hospital Clínic, Barcelona, Spain
Movement Disorder Unit, Department of Neurology, Hospital Clínic, Barcelona, Spain.
J Neurol Neurosurg Psychiatry. 2019 Jan;90(1):108-110. doi: 10.1136/jnnp-2018-318029. Epub 2018 Jul 9.
To describe an adult patient with Rasmussen's disease with focal dystonia as the most disabling symptom and the good response to unilateral globus pallidus internus (GPi) deep brain stimulation (DBS).
Retrospective review of clinical records and diagnostic tests.
The patient had displayedmild focal seizures with sensory and motor symptoms on the left arm and hemiface since the age of 22. Ten years later she experienced abrupt onset of focal left dystonia involving mainly the leg. Brain MRI showed progressive right hemisphere atrophy, and fluorodeoxyglucose-positron emission tomography (FDG-PET) showed right hypometabolism mainly over the frontal and insular regions. Brain biopsy confirmed chronic encephalitis. The dystonia became very severe and made walking extremely difficult. Different treatments including dopaminergic, anticholinergic, immunomodulatory drugs and botulinum toxin were ineffective. Finally the patient was treated with unilateral GPi DBS. Shortly after the onset of the stimulation, the dystonia started to improve. Parameters have been adjusted, and 18 months after surgery the patient is able to walk and run unaided, although a mild left leg dystonia persists.
Rasmussen's disease may be difficult to diagnose in adult patients. Associated movement disorders may be more disabling than seizures. Focal dystonia may be treated successfully with DBS.
描述一名以局灶性肌张力障碍为最致残症状的成人朗格汉斯细胞组织细胞增生症患者，其对单侧苍白球内侧部（GPi）脑深部电刺激（DBS）反应良好。
回顾性分析临床记录和诊断性检查。
患者自 22 岁起出现轻度局灶性癫痫，表现为左上肢和半侧面部感觉和运动症状。10 年后，她突发左侧局灶性肌张力障碍，主要累及下肢。脑部 MRI 显示右半球进行性萎缩，氟代脱氧葡萄糖正电子发射断层扫描（FDG-PET）显示右侧额极和岛叶区域代谢低下。脑活检证实为慢性脑炎。肌张力障碍变得非常严重，行走极其困难。不同的治疗方法包括多巴胺能药物、抗胆碱能药物、免疫调节药物和肉毒毒素都无效。最后，患者接受了单侧 GPi-DBS 治疗。刺激开始后不久，肌张力障碍开始改善。参数进行了调整，术后 18 个月，患者能够独立行走和跑步，尽管左腿仍有轻度肌张力障碍。
成人朗格汉斯细胞组织细胞增生症可能难以诊断。伴发的运动障碍可能比癫痫更具致残性。局灶性肌张力障碍可通过 DBS 成功治疗。
