Late-onset Leigh syndrome without delayed development in China:A case report  

作　　者：Jian-Min Liang Cui-Juan Xin Guang-Liang Wang Xue-Mei Wu 

机构地区：[1]Department of Pediatric Neurology,1st Hospital of Jilin University,Changchun 130021,Jilin Province,China [2]Department of Pediatric Neurology,Jilin Provincial Key Laboratory of Pediatric Neurology,Changchun 130021,Jilin Province,China [3]Department of Cardiology,Dalinghe Hospital of Far Eastern Horizon,Dalinghe 121200,Liaoning Province,China

出　　处：《World Journal of Clinical Cases》2021年第24期7133-7138,共6页世界临床病例杂志

基　　金：the National Natural Science Foundation of China,No.81801284 and No.81771396.

摘　　要：BACKGROUND Leigh syndrome(LS)is one of the most common mitochondrial diseases in infants and children.LS often manifests as early-onset with delayed phenotypic development.However,late-onset LS with normal development and white matter lesions in the brain is rarely reported,thereby highlighting the phenotypic variability of LS expression.CASE SUMMARY We report a 12-year-old boy who presented with an unusual late-onset and fulminant form of LS that is maternally inherited without developmental delay.The patient was admitted to the hospital with symptoms of ptosis and somnolence,and died within 2 mo.Analysis of peripheral blood leukocytes showed a homoplasmic m.9176T>C mutation in the patient.Magnetic resonance imaging also revealed lesions in bilateral white matter as well as symmetrical lesions in the basal ganglia and brain stem.The patient was diagnosed with LS.The patient was treated with vitamin C,vitamin D,and adenosine-triphosphate.The patient died within 2 mo of hospital admission.CONCLUSION LS can present in both infants and older children with different phenotypes.

关 键 词：Leigh syndrome 9176 mutation LATE-ONSET Case report 

分 类 号：R725.9[医药卫生—儿科]