摘要
报告以脑积水起病的晚发型戊二酸血症1型(glutaric acidemia type 1,GA1)1例。患者女性,21岁,以急性脑积水为主要临床表现,头颅MRI示脑内大范围脑白质、双侧基底节区及小脑半球蚓部异常信号,双侧脑室扩张,双侧颞极蛛网膜囊肿。血尿有机酸分析检出大量戊二酸和3-羟基戊二酸,GCDH基因检测发现为复合杂合性突变(S119L和R355H),确诊为戊二酸血症1型,给予相关治疗后,症状缓解。可见临床上如遇上难以解释的脑积水,头部MRI示典型对称性病灶,包括小脑损害,应进行血尿有机酸筛查以除外代谢性疾病。
A case of late-onset glutaric acidemia type 1(GA 1)with hydrocephalus onset is reported.A 21-year old female presented with acute hydrocephalus as the main clinical manifestation.Cranial MRI showed extensive abnormalities,including abnormal signals in cerebral white matter,bilateral basal ganglia and cerebellar hemisphere vermis,bilateral ventriculomegaly,and bilateral temporal pole arachnoid cysts.Blood and urine organic acid analysis detected elevated levels of glutaric acid and 3-hydroxyglutaric acid,while GCDH gene detection confirmed compound heterozygous mutations(S 119 L and R 355 H).The diagnosis of Glutaric acidemia type 1 was established and the symptoms improved following relevant treatment.In clinical practice,patients presenting with unexplained hydrocephalu and head MRI showing typical symmetrical lesions,including cerebellar damage should prompt further investigation with blood and urine organic acid screening to exclude metabolic diseases.
作者
陈剑华
王向波
CHEN Jianhua;WANG Xiangbo(Department of Neurology,Beijing Fengtai Youanmen Hospital,No.199,Youwai Road,Fengtai District,Beijing 100069,China;Department of Neurology,Xuanwu Hospital,Capital Medical University.No.45,Changchun Street,Xicheng District,Beijing 100053,China)
出处
《中国神经精神疾病杂志》
北大核心
2025年第8期486-489,共4页
Chinese Journal of Nervous and Mental Diseases
基金
国家科技资源共享服务平台计划项目(编号:YCZYPT[2019]04)。
关键词
戊二酸血症1型
成人晚发型
脑积水
小脑半球病变
颞极蛛网膜囊肿
Glutaric acidemia type 1
Late-onset in adults
Hydrocephalus
Cerebellar hemisphere lesions
Temporal pole arachnoid cyst
