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