De novo mutation of NAXE(APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1:A case report  

作　　者：Le Ding Ting-Ting Huang Guo-Huan Ying Shang-Yu Wang Hai-Feng Xu Hao Qian Faiza Rahman Xiao-Peng Lu Hu Guo Guo Zheng Gang Zhang 

机构地区：[1]Department of Neurology,Children’s Hospital of Nanjing Medical University,Nanjing 210008,Jiangsu Province,China [2]Rehman Medical Institute Peshawar,Peshawar 39250,Pakistan

出　　处：《World Journal of Clinical Cases》2023年第14期3340-3350,共11页世界临床病例杂志

基　　金：Supported by the Epilepsy Research Fund of Chinese Anti-Epilepsy Association,No.CU-A-2021-17;Nanjing Municipal Health Bureau key project,No.ZKX21047;the Postdoctoral Research Foundation of China,No.2020M671550。

摘　　要：BACKGROUND Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1(PEBEL1)is a rare autosomal recessive severe neurometabolic disease.The aim of this study was to investigate the clinical characteristics and genetic pathogenicity of PEBEL1 caused by rare NAXE(or APOA1BP)-related defects.CASE SUMMARY The patient was a girl aged 2 years and 10 mo.She was hospitalized due to walking disorder for>40 d.The clinical manifestations were ataxia,motor function regression,hypotonia,and eyelid ptosis.Within 1 mo of hospitalization,she developed sigh breathing,respiratory failure,cerebellar edema and brain hernia,and finally she died.Changes were found in cranial imaging,including cerebellar edema accompanied by symmetrical myelopathy.Through whole exome sequencing,we detected NAXE compound heterozygous variation(NM 144772.3)c.733A>C(p.Lys245Gln,dbSNP:rs770023429)and novel variation c.370G>T(p.Gly124Cys)in the germline gene.The clinical features and core phenotypes of this case were consistent with 18 previously reported cases of PEBEL1.CONCLUSION This is the first case of NAXE-related PEBEL1 with severe clinical phenotype in China' Mainland.The p.Gly124Cys mutation discovered in this case has enriched the pathogenic variation spectrum of NAXE.

关 键 词：ENCEPHALOPATHY Respiratory insufficiency Cerebral edema NAXE gene APOAIBP gene Novel variation Case report 

分 类 号：R742[医药卫生—神经病学与精神病学]