De novo mutation of NAXE(APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1:A case report
作者机构：Department of NeurologyChildren’s Hospital of Nanjing Medical UniversityNanjing 210008Jiangsu ProvinceChina Rehman Medical Institute PeshawarPeshawar 39250Pakistan
出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)
年 卷 期：2023年第11卷第14期
页 面：3340-3350页
核心收录：
学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学]
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
主 题：Encephalopathy Respiratory insufficiency Cerebral edema NAXE gene APOAIBP gene Novel variation Case report
摘 要：BACKGROUND Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1(PEBEL1)is a rare autosomal recessive severe neurometabolic *** aim of this study was to investigate the clinical characteristics and genetic pathogenicity of PEBEL1 caused by rare NAXE(or APOA1BP)-related *** SUMMARY The patient was a girl aged 2 years and 10 *** was hospitalized due to walking disorder for40 *** clinical manifestations were ataxia,motor function regression,hypotonia,and eyelid *** 1 mo of hospitalization,she developed sigh breathing,respiratory failure,cerebellar edema and brain hernia,and finally she *** were found in cranial imaging,including cerebellar edema accompanied by symmetrical *** whole exome sequencing,we detected NAXE compound heterozygous variation(NM 144772.3)c.733AC(***245Gln,dbSNP:rs770023429)and novel variation c.370GT(***124Cys)in the germline *** clinical features and core phenotypes of this case were consistent with 18 previously reported cases of *** This is the first case of NAXE-related PEBEL1 with severe clinical phenotype in China *** ***124Cys mutation discovered in this case has enriched the pathogenic variation spectrum of NAXE.
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