To explore the clinical characteristics and prognosis of stroke-like episodes（SLE）in phosphomannomutase-2-related congenital disorders of glycosylation（PMM2-CDG）.We analyzed retrospectively the clinical data of siblings who successively suffered from SLE which was definitely diagnosed as PMM2-CDG and made literature review related to the disease.The siblings both suffered from SLE and seizures.The 10-year-old brother experienced slight developmental delay and the 6-year-old sister was diagnosed with hypothyroidism.Whole exome sequencing and Sanger sequencing identified homozygous mutation（c.310C>G，p.Leu104Val）in the brother and sister， while their parents were heterozygous. They were diagnosed with PMM2-CDG. The literature review showed that the most common mutation site of PMM2-CDG was p.I132T in China， which was p.R141H in the literature reported abroad. SLE in PMM2-CDG patients are usually characterized by persistent high fever， disturbance of consciousness， symptoms of neurological defects， convulsion and headache caused by head trauma and viral infection， but the prognosis is good， and there are few cases of neurological sequelae.Invasive examinations such as lumbar puncture and neuroimaging under sedation should be avoided in case of aggravating the condition.Gene test helps to confirm the diagnosis.

phosphomannomutase-2 （PMM2）, congenital disorders of glycosylation, stroke-like episodes

探讨磷酸甘露糖变位酶2基因相关先天性糖蛋白糖基化障碍（PMM2-CDG）卒中样发作临床特点及预后。回顾分析先后表现为卒中样发作的 PMM2-CDG 的兄妹俩的临床资料并进行疾病相关文献复习。兄妹俩均有癫痫、卒中样发作，10岁兄长轻度发育落后，6岁妹妹患甲状腺功能减低症。家系全外显子组测序及 Sanger 测序兄妹俩携带 PMM2纯合变异（c.301C>G，p.Leu104Val），父母杂合子。兄妹俩诊断为 PMM2-CDG。文献复习我国 PMM2-CDG 最多变异位点为 p.I132T，国外报道最常见变异位点 p.R141H。PMM2-CDG 卒中样发作常在头颅外伤、病毒感染诱因下出现持续高热、意识障碍、神经系统缺损症状、惊厥、头痛，预后好，较少遗留神经系统后遗症。侵袭性检查如腰椎穿刺术、镇静后头颅影像学检查应避免，以免加重病情，基因检测可确诊。

磷酸甘露糖变位酶2 , 先天性糖蛋白糖基化障碍, 卒中样发作