姚琛潇 涂鄂文 李燕 王照 朱小琴 左静

〔摘要〕 目的 加強对伴精神症状的舞蹈病-棘红细胞增多症（chorea-acanthocytosis， ChAc）的临床表现、检查及诊断的认识，并对治疗进行初步探讨。方法 通过回顾性分析湖南省脑科医院2019年收治的伴精神症状的ChAc患者的诊疗过程，检索并分析伴精神症状的ChAc的病例报道，总结其临床表现、检查及本例中西医治疗方法。结果 本例患者表现为头面部不自主运动伴精神症状，外周血棘红细胞增多、肌酸激酶增高，VPS13A基因突变。检索结果提示伴精神症状的ChAc患者以舞蹈样不自主运动为主要临床表现，以外周血棘红细胞增多、肌酸激酶增高及尾状核萎缩为特点，基因检测可作为有效的诊断手段。抑郁为最常见的精神症状，可使用氢溴酸西酞普兰进行改善。根据患者症状及体征，属中医学“百合病”范畴，予以百合地黄汤加减联合治疗后，患者症状明显改善。结论 精神症状是ChAc较为常见的临床表现，对疑似病例应及时行外周血涂片等检查，以减少漏诊、误诊。中西医结合治疗可取得较好疗效。

〔关键词〕 舞蹈病-棘红细胞增多症;运动障碍;抑郁症;中西医结合

〔中图分类号〕R259       〔文献标志码〕B       〔文章编号〕doi：10.3969/j.issn.1674-070X.2021.04.023

〔Abstract〕 Objective To enhance the understanding of clinical manifestations， examinations and diagnosis of chorea-acanthocytosis （ChAc） with mental symptoms， and to investigate the treatment preliminarily. Methods The diagnosis and treatment process of one ChAc patient with psychiatric symptoms admitted to Hunan Brain Hospital in 2019 was retrospectively analyzed. We summarized the clinical manifestations and examinations of ChAc patients with psychiatric symptoms by retrieving and analyzing such case reports， and summarized the treatment methods of Chinese and western medicine for this case. Results The patient presented with involuntary movements of head and face， accompanied by mental symptoms， increased acanthocyte and creatine kinase of peripheral blood spines， and VPS13A gene mutation. The retrieval results indicated that the main clinical manifestations of ChAc patients with mental symptoms were choreiform involuntary movement， characterized by increased acanthocyte of peripheral blood spines， increased creatine kinase and atrophy of caudate nucleus. Gene testing could be used as an effective diagnostic method. Depression was the most common psychiatric symptom and may be ameliorated with citalopram hydrobromide. According to the symptoms and signs of the patient， it belonged to the category of "lily disease" in traditional Chinese medicine. After the treatment with Baihe Dihuang Decoction， the patient's symptoms were significantly improved. Conclusion Mental symptoms are the common clinical manifestations of ChAc. Peripheral blood smears and other examinations should be performed in time for suspected cases to reduce missed diagnosis and misdiagnosis. Combination of traditional Chinese and western medicine can obtain better curative effect.

〔Keywords〕 chorea-acanthocytosis; movement disorder; depression; integrated traditional Chinese and western medicine

神经棘红细胞增多症（neuroacanthocytosis）是一组罕见的神经系统遗传性疾病，主要累及锥体外系，包括4种类型：舞蹈病-棘红细胞增多症（chorea-acanthocytosis， ChAc）、McLeod综合征、类亨廷顿病2型和泛酸激酶相关性神经退行性变[1]。其中，ChAc是最常见的类型，其主要临床表现为口面部不自主运动，舞蹈样运动，癫痫发作，认知功能障碍以及精神异常等。……