Published online May 16, 2023. doi: 10.12998/wjcc.v11.i14.3340
Peer-review started: February 16, 2023
First decision: March 14, 2023
Revised: March 26, 2023
Accepted: April 12, 2023
Article in press: April 12, 2023
Published online: May 16, 2023
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.
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.
This is the first case of NAXE-related PEBEL1 with severe clinical phenotype in Mainland China. The p.Gly124Cys mutation discovered in this case has enriched the pathogenic variation spectrum of NAXE.
Core Tip: We report a girl with early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1), and review the reported cases in the literature. The disease has rapid progression with an unfavorable prognosis. Gene detection is the only diagnostic method. We report the first case of PEBEL1 with severe clinical phenotype in Mainland China.