【摘要】 目的总结分析儿童以神经精神症状为首发的肝豆状核变性疾病的临床特点。方法收集郑州大学第一附属医院儿科2017年1月至2019年10月收治的10例以神经精神症状为首发的肝豆状核变性患儿资料,结合相关文献分析总结其临床表现及相关辅助检查特点。结果以神经精神症状为首发的肝豆状核变性患儿年龄阶段为学龄期,主要表现为构音障碍、震颤、流涎、情绪行为异常、写字困难、肌张力障碍等。辅助检查中血清铜蓝蛋白及24小时尿酮均有不同程度的降低及升高,K-F环均为阳性(100%),头颅MRI均异常且基底节区为主要病变部位,50%患儿合并有尿常规改变,基因检测为ATP7B基因突变且符合常染色体隐性遗传规律。结论当学龄期儿童出现不明原因的构音障碍、情绪行为异常、肌张力障碍甚至写字困难等症状时,需警惕肝豆状核变性的可能,建议尽早完善头颅MRI等检查,必要时行基因检测。更多还原

【Abstract】 Objective To summarize and analyze the clinical characteristics of Wilson’s disease in children with neuropsychiatric symptoms as the initial symptom.Methods Collect the data of 10 children with Wilson’s disease with neuropsychiatric symptoms as the initial symptom of Pediatrics in the First Affiliated Hospital of Zhengzhou University from January 2017 to October 2019, and summarize and analyze their clinical manifestations and characteristics of relevant auxiliary examinations in combination with relevant literatures.Results The age of children with Wilson’s disease with neuropsychiatric symptoms as the first stage is school-age, which is mainly manifested as dysarthria, tremor, salivation, abnormal emotional behavior, dysgraphia, dystonia, etc, Ceruloplasmin and 24-hour urine ketone were decreased and increased to different degrees in the examinations,K-F ring are all positive(100%), the head MRI were all abnormal and basal ganglia region as the main pathological changes, 50% of children with routine urine change, the genetic results show that ATP7 B gene mutation and all of them were autosomal recessive.Conclusion When school-age children have unexplained dysarthria, abnormal emotional behavior, dystonia or even writing difficulties, they should be alert to the possibility of hepatolenticular degeneration. It is recommended to complete cranial MRI and other examinations as soon as possible, and carry out genetic tests when it’s necessary.更多还原