Department of Neurology, Hospital das Clínicas, Federal University of Pernambuco, Recife, Brazil
Department of Neurology, Hospital das Clínicas, University of São Paulo Medical School, São Paulo, Brazil.
Pract Neurol. 2024 Jul 16;24(4):326-328. doi: 10.1136/pn-2023-004045.
An 18-year-old man had episodes of severe generalised dystonia, from aged 7 months and becoming progressively more frequent. He also had gradually developed interictal limb dystonia. He was initially diagnosed with paroxysmal kinesigenic dyskinesia but he did not improve with several medications. A levodopa trial led to levodopa-induced dyskinetic movements. However, a lower titration of 25 mg of levodopa two times per day substantially improved his motor features and quality of life. Laboratory investigations and MR scans of the brain were unremarkable. Whole-exome sequencing identified a pathogenic variant in the gene. The -spectrum disorders include non-classical phenotypes such as paroxysmal dystonic attacks. A response to dopamine response is unusual in these disorders. This case highlights the importance of levodopa trials in early-onset dystonia cases.
一位 18 岁男性自 7 月龄起出现严重的全身性肌张力障碍发作，且发作逐渐变得更加频繁。他还逐渐出现发作间期肢体肌张力障碍。他最初被诊断为发作性运动诱发性运动障碍，但多种药物治疗均无效。尝试左旋多巴治疗后出现左旋多巴诱导的运动障碍。然而，将左旋多巴剂量降低至 25mg，每天两次，显著改善了他的运动功能和生活质量。实验室检查和脑部磁共振成像均未见异常。全外显子组测序发现 基因的致病性变异。- 谱障碍包括非典型表型，如阵发性肌张力障碍发作。这些疾病对多巴胺反应不敏感。本病例强调了在早发性肌张力障碍病例中进行左旋多巴试验的重要性。
