Chinese Journal of Contemporary Neurology and Neurosurgery ›› 2018, Vol. 18 ›› Issue (5): 349-354. doi: 10.3969/j.issn.1672-6731.2018.05.009

Previous Articles     Next Articles

Analysis of clinical phenotype and gene mutation in chorea-acanthocytosis with epilepsy as the initial onset: one case report

JIN Di1, SUN Hui1, SUN Xuan2, DONG Zhao1, YU Sheng-yuan1, HUANG De-hui1, WU Lei1   

  1. 1Department of Neurology,2Department of Geriatric Neurology, Chinese PLA General Hospital, Beijing 100853, China
  • Online:2018-05-25 Published:2018-06-07
  • Contact: WU Lei (Email: wlyingsh@163.com)
  • Supported by:

    This study was supported by Science and Technology Innovation Nursery Fund of Chinese PLA General Hospital (No. 16KMM09).

以癫发作为首发症状的舞蹈病-棘红细胞增多症一例临床表型及基因突变分析

金迪, 孙慧, 孙璇, 董钊, 于生元, 黄德晖, 武雷   

  1. 100853 北京,解放军总医院神经内科[金迪(现在航天中心医院神经内科,邮政编码:100080)、孙慧、董钊、于生元、黄德晖、武雷],南楼神经内科(孙璇)
  • 通讯作者: 武雷(Email:wlyingsh@163.com)
  • 基金资助:

    解放军总医院科技创新苗圃基金资助项目(项目编号:16KMM09)

Abstract:

Objective  To report one case of chorea ? acanthocytosis (ChAc) with initial onset of epilepsy and summarize the characteristics of clinical phenotype and gene mutation.  Methods and Results  A 37 ? year ? old female suffered from paroxysmal disturbance of consciousness and convulsive seizures for 9 years, involuntary movement of limbs and slurred speech for 6 years, and choreic movement of four limbs for 4 years. Proportions of acanthocytes in peripheral blood smear were 13.50% and 12.60%, respectively. Scanning electron microscopy also found a large amount of acanthocytes in peripheral blood. 18F ? fluoro ? 2 ? deoxy ? D ? glucose (18F ? FDG) PET showed obvious atrophy and hypometabolism in bilateral caudate nuclei and putamen. Gene sequencing showed T > G homozygous mutations located in chromosome 9: 79824439 (GRCh37.hg19) which led to nonsense mutation of VPS13A gene. The definite diagnosis was ChAc and the patient took oral vitamin E 0.20 g/time and 3 times/d. The symptoms were slightly exacerbated after 3 ? year follow ? up.  Conclusions  ChAc has various types of clinical manifestation. Epilepsy is a rare onset symptom. Currently there is no effective treatment. Early definite diagnosis and timely symptomatic treatment is helpful for improving the life quality of patients.

Key words: Neuroacanthocytosis, Epilepsy, Genes, Mutation

摘要:

目的 总结以癫发作为首发症状的舞蹈病?棘红细胞增多症的临床表型和基因突变特点。 方法与结果 女性患者,37 岁,临床主要表现为发作性意识障碍、抽搐发作9 年,肢体不自主运动、言语不清6 年,舞蹈样动作4 年;两次血涂片棘形红细胞比例为13.50%和12.60%;外周血扫描电子显微镜观察可见大量棘形红细胞;18F-脱氧葡萄糖(18F-FDG)PET 显示,双侧壳核和尾状核萎缩,葡萄糖代谢明显降低;基因检测显示,患者第9 号染色体79824439 位点(GRCh37.hg19)T > G 纯合突变,导致VPS13A 基因无义突变。最终明确诊断为舞蹈病?棘红细胞增多症,仅服用维生素E 0.20 g/次、3 次/d 对症治疗。随访3 年,症状轻度加重。 结论 舞蹈病?棘红细胞增多症临床表现多样,以癫发作为首发症状罕见,目前尚无治愈方法,早期明确诊断、及时对症治疗有助于改善生活质量。

关键词: 神经棘红细胞增多症, 癫痫, 基因, 突变