目的 分析巨脑回畸形并皮层下带状灰质异位的临床及基因变异特点。方法 回顾分析1例巨脑回畸形并 皮层下带状灰质异位患儿的临床资料及基因检测结果。结果 患儿，男性，1个月25天，因发现逗引反应差、睡眠多入院。 患儿头围38 cm，双下肢肌张力稍高，神经心理发育检查表评估发育商低。头颅MRI提示双侧额顶枕叶巨脑回畸形并皮层 下带状灰质异位。二代测序发现患儿DCX基因存在c. 829 C>T半合子变异，变异来自患儿母亲，该变异的致病性国外已有 文献报道，国内未见报道。结论 扩充了国内巨脑回畸形的基因变异谱。

Objective To improve the understanding of clinical phenotype and genotype of pachygyria with subcortical band heterotopia. Method The clinical data and genetic test results of a boy with pachygyria with subcortical band heterotopia were retrospectively analyzed. Results A boy aged 1 -month- 25 -day was admitted to the hospital for 1 week due to poorly playful response. Clinical features included soft anterior fontanelle, slightly hypertonia in lower limbs, and head circumference was 38 cm. The neuropsychological development test for 0 - 6 years showed a low developmental quotient. Head MRI revealed pachygyria with subcortical band heterotopia in bilateral frontal parietal lobe. Next generation sequencing revealed a c.829 C>T hemizygous variation in DCX gene, which was inherited from his mother. This pathogenic mutation of DCX gene has been reported in the literature. Conclusion The mutation found in this patient was the first report in China, which expanded local mutation spectrum of DCX.