학술논문
早发型球形细胞脑白质营养不良1例 / A patient with early-onset globoid cell leukodystrophy
Document Type
Academic Journal
Author
刘芙蓉; 王兴; 李燕婷; 马子涵; 马盼盼; 惠玲; 郝胜菊; 张钏; LIU Furong; WANG Xing; LI Yanting; MA Zihan; MA Panpan; HUI Ling; HAO Shengju; ZHANG Chuan
Source
中国神经精神疾病杂志 / Chinese Journal of Nervous and Mental Diseases. 49(11):665-668
Subject
Language
Chinese
ISSN
1002-0152
Abstract
对GALC基因复合杂合变异引起早发型球形细胞脑白质营养不良(Krabbe病)1例患儿进行回顾性分析.患儿,女,4月龄,因"无明显诱因出现拒奶,精神差,嗜睡,抽搐,发热"入院.头颅MRI显示双侧小脑半球、双侧内囊后肢及双侧侧脑室旁对称性异常信号,胼胝体菲薄,髓鞘化形成进程落后于同龄儿水平.高通量测序结果显示患儿GALC基因存在复合杂合突变(NM 000153.4):c.[908+1G>A];[194G>A],分别来源于患儿父亲和母亲,c.908+1G>A已见报道,c.194G>A为首次报告.应用高通量测序技术可高效、精准的确诊Krabbe病,协助临床对该病进行鉴别及诊断.
We retrospectively analyzed a child with early-onset globoid cell leukodystrophy(Krabbe's disease)caused by complex heterozygous variations in the GALC gene.The girl was admitted to the hospital at the age of 4 month with main complaints of"No obvious cause of milk refusal,poor mental state,drowsiness,convulsions,fever."Brain MRI showed abnormal symmetric signals changes in bilateral cerebellar hemispheres,bilateral internal capsule hind limbs and bilateral ventricles,thin corpus callosum,myelination process lags behind the level of children of the same age.High-throughput sequencing analysis identified compound heterozygous mutations in GALC gene(NM 000153.4):c.[908+1G>A];[194G>A and the two heterozygous mutations were correspondingly inherited from his father and mother,respectively.The application of high-throughput sequencing technology can diagnose Krabbe disease efficiently and accurately,which assists in clinical identification and diagnosis.
We retrospectively analyzed a child with early-onset globoid cell leukodystrophy(Krabbe's disease)caused by complex heterozygous variations in the GALC gene.The girl was admitted to the hospital at the age of 4 month with main complaints of"No obvious cause of milk refusal,poor mental state,drowsiness,convulsions,fever."Brain MRI showed abnormal symmetric signals changes in bilateral cerebellar hemispheres,bilateral internal capsule hind limbs and bilateral ventricles,thin corpus callosum,myelination process lags behind the level of children of the same age.High-throughput sequencing analysis identified compound heterozygous mutations in GALC gene(NM 000153.4):c.[908+1G>A];[194G>A and the two heterozygous mutations were correspondingly inherited from his father and mother,respectively.The application of high-throughput sequencing technology can diagnose Krabbe disease efficiently and accurately,which assists in clinical identification and diagnosis.