生酮饮食对PIGA基因突变所致发育性癫痫性脑病疗效分析

Analysis of ketogenic diet on developmental and epileptic encephalopathy caused by PIGA gene mutation

目的 探讨生酮饮食对PIGA基因突变相关性发育性癫痫性脑病患者的疗效。方法 回顾性分析2016年3月-2020年6月广东三九脑科医院收治的发育性癫痫性脑病患者,筛选出PIGA基因突变阳性的患者,分析其临床特征及治疗效果。结果 共收集6例PIGA基因突变阳性的癫痫患者,均为男性,5例来源母亲杂合突变,1例为新发突变。6例患者均伴有不同程度的精神运动发育迟滞,多种癫痫发作类型,脑电图表现为多灶性放电,头颅磁共振成像检查提示不同程度的脑发育不全。6例患者均符合药物难治性癫痫,均建议采用生酮饮食治疗,但三例患者早期则停用。其中病例3生酮饮食第五天出现高脂血症而停用,病例5在第二天出现一过性低血糖而家属拒绝使用。病例6生酮饮食一周后家属自行停用。只有三例患者坚持长期生酮饮食,坚持2年以上。病例1和4生酮饮食治疗后疗效非常显著,达到无发作。病例2生酮饮食治疗后发作频率减少50%。病例4在生酮饮食两年后出现高脂血症,停用生酮饮食约2个月后血脂恢复正常。将生酮组患者与非生酮组患者进行对照发现,生酮组治疗后疗效明确,其中两例患者一年以上无发作,发育较前明显进步,生酮饮食治疗后两年复查脑电图示癫痫样放电较前明显减少或消失。结论 PIGA基因突变导致的发育性癫痫性脑病患者,起病年龄早,癫痫发作类型多样,伴不同程度精神运动发育迟滞,部分伴有多种畸形。多为药物难治性癫痫,大部分患者对生酮饮食治疗有效,建议尽早启动。

Objective To explore the efficacy of ketogenic diet on developmental and epileptic encephalopathy caused by PIGA gene mutation.Method A retrospective analysis was conducted on patients with developmental and epileptic encephalopathy admitted to Guangdong Sanjiu Brain Hospital from March 2016 to June 2020.Patients with positive PIGA gene mutations were selected,and their clinical characteristics and treatment effects were analyzed.Result A total of 6 epilepsy patients with positive PIGA gene mutations were collected,all of whom were male.5 cases were heterozygous mutations originating from the mother,and 1 case was a new mutation.All 6 patients were accompanied by varying degrees of psychomotor developmental delay,various types of epileptic seizures,multifocal discharge on EEG,and varying degrees of brain hypoplasia indicated by cranial MRI.All 6 patients met the criteria for drug-resistant epilepsy and were recommended to undergo ketogenic diet treatment,but three patients were discontinued in the early stages.Among them,Case 3 experienced hyperlipidemia on the fifth day of ketogenic diet and was discontinued,while Case 5 experienced transient hypoglycemia on the second day and the family refused to use it.Case 6:After one week of ketogenic diet,the family members voluntarily stopped using it.Only three patients adhered to a longterm ketogenic diet for more than 2 years.The efficacy of ketogenic diet treatment in cases 1 and 4 was very significant,reaching a seizure free state.Case 2 showed a 50%reduction in seizure frequency after ketogenic diet treatment.Case 4 developed hyperlipidemia after two years of ketogenic diet,and after discontinuing the ketogenic diet for about two months,the blood lipids returned to normal.Comparing patients in the ketogenic group with those in the non ketogenic group,it was found that the ketogenic group had a clear therapeutic effect after treatment.Among them,two patients had no seizures for more than a year and showed significant progress in development compared to before.Two years after ketogenic diet treatment,the EEG showed a significant decrease or disappearance of epileptic discharge compared to before.Conclusion Patients with developmental latency caused by PIGA gene mutations have an early only age,diverse types of sizes,varying degrees of psychomotor developmental delay,and some are compatible by von as possible.