BACKGROUND Status dystonicus is an underdiagnosed condition, probably due to heterogeneous etiology, presentation and course. Herein, we report the first case of CLN8 disease in the literature presenting with status dystonicus who responded well to pharmacological intervention. CASE A boy aged five years and three months presented with fever, loss of appetite, intermittent excessive dystonic contractions, opisthotonus with retrocollis, and irritability for three days. His developmental milestones were reported as normal up to the age of three years and six months. At this age, he developed seizures, ataxia, and vision problems. Deterioration in developmental milestones was observed from the age of four. Laboratory tests demonstrated leukocytosis, abnormal renal function, mild metabolic acidosis, elevated creatine kinase and transaminase levels. The brain magnetic resonance imaging demonstrated cerebral and cerebellar atrophy. Homozygous missense mutation of c.709G > A (p.G237R) in the CLN8 gene was revealed. With all these clinical and laboratory findings, he was diagnosed with status dystonicus associated with CLN8 disease. Antibiotherapy, anticonvulsant drugs, and intravenous hydration with alkaline fluids were initiated. Due to irregular breathing, dysphagia, and worsening of dystonic contractions, mechanical ventilation was performed, and baclofen, haloperidol, midazolam infusion and chloral hydrate were administered, respectively. Finally, serum creatine kinase levels decreased, and dystonic contractions improved on the 15th day of hospitalization. CONCLUSION To the best of our knowledge, our case is the first report describing the status dystonicus in a patient with CLN8 disease. Our report suggested that neuronal ceroid lipofuscinoses should be kept in mind in the etiology of status dystonicus.

中文翻译：

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与 CLN8 疾病相关的肌张力障碍状态

背景肌张力障碍状态是一种未被充分诊断的病症，可能是由于异质的病因、表现和病程。在此，我们报告了文献中第一例 CLN8 疾病，表现为肌张力障碍，对药物干预反应良好。案例 一名 5 岁零 3 个月的男孩出现发烧、食欲不振、间歇性过度张力障碍收缩、后颈斜张和易怒 3 天。据报道，他的发育里程碑一直到三岁零六个月都是正常的。在这个年龄，他出现了癫痫、共济失调和视力问题。从四岁开始观察到发育里程碑的恶化。实验室检查显示白细胞增多、肾功能异常、轻度代谢性酸中毒、肌酸激酶和转氨酶水平升高。脑磁共振成像显示大脑和小脑萎缩。揭示了 CLN8 基因中 c.709G > A (p.G237R) 的纯合错义突变。根据所有这些临床和实验室检查结果，他被诊断为与 CLN8 疾病相关的肌张力障碍状态。开始抗生素治疗、抗惊厥药物和碱性液体静脉补液。因呼吸不规律、吞咽困难、肌张力障碍加重，行机械通气，分别给予巴氯芬、氟哌啶醇、咪达唑仑、水合氯醛输注。最后，在住院第 15 天，血清肌酸激酶水平下降，肌张力障碍性收缩得到改善。结论 据我们所知，我们的病例是第一个描述 CLN8 病患者肌张力障碍状态的报告。我们的报告建议在肌张力障碍的病因学中应牢记神经元蜡样脂褐质沉积症。