Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathy

IF 1.4 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development Pub Date : 2023-11-01 DOI:10.1016/j.braindev.2023.07.003

Kentaro Sano , Fuyuki Miya , Mitsuhiro Kato , Taku Omata , Jun-ichi Takanashi

{"title":"Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathy","authors":"Kentaro Sano , Fuyuki Miya , Mitsuhiro Kato , Taku Omata , Jun-ichi Takanashi","doi":"10.1016/j.braindev.2023.07.003","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><p>Mutations in the <em>FBXO28</em> gene, which encodes FBXO28, one of the F-box protein family, may cause developmental and epileptic encephalopathy (DEE). <em>FBXO28</em><span>-related DEE is radiologically characterized by cerebral atrophy<span><span>, delayed/abnormal myelination, and </span>brain malformation; however, no neurochemical analyses have been reported.</span></span></p><p><span><span>Case report: A female Japanese infant presented with severe psychomotor delay, epileptic spasms, and </span>visual impairment. Whole-exome sequencing revealed a de novo variant of the </span><em>FBXO28</em> gene, leading to the diagnosis of <em>FBXO28</em>-related DEE. Magnetic resonance (MR) spectroscopy at 6, 12, and 32 months revealed decreased <em>N</em><span>-acetylaspartate and choline-containing compounds and increased levels of myoinositol.</span></p></div><div><h3>Conclusion</h3><p>MR spectroscopy revealed neurochemical derangement in <em>FBXO28</em><span>-related DEE, that is, disturbed myelination secondary to neuronal damage with astrogliosis.</span></p></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":null,"pages":null},"PeriodicalIF":1.4000,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Brain & Development","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0387760423001134","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Background

Mutations in the FBXO28 gene, which encodes FBXO28, one of the F-box protein family, may cause developmental and epileptic encephalopathy (DEE). FBXO28-related DEE is radiologically characterized by cerebral atrophy, delayed/abnormal myelination, and brain malformation; however, no neurochemical analyses have been reported.

Case report: A female Japanese infant presented with severe psychomotor delay, epileptic spasms, and visual impairment. Whole-exome sequencing revealed a de novo variant of the FBXO28 gene, leading to the diagnosis of FBXO28-related DEE. Magnetic resonance (MR) spectroscopy at 6, 12, and 32 months revealed decreased N-acetylaspartate and choline-containing compounds and increased levels of myoinositol.

Conclusion

MR spectroscopy revealed neurochemical derangement in FBXO28-related DEE, that is, disturbed myelination secondary to neuronal damage with astrogliosis.

查看原文本刊更多论文

fbxo28相关发育性和癫痫性脑病患者的神经化学磁共振波谱评估

背景：编码F-box蛋白家族之一FBXO28的FBXO28基因突变可能导致发育性和癫痫性脑病（DEE）。FBXO28相关DEE的放射学特征为脑萎缩、髓鞘形成延迟/异常和脑畸形；然而，还没有神经化学分析的报道。病例报告：一名日本女婴出现严重的精神运动迟缓、癫痫痉挛和视觉障碍。全外显子组测序揭示了FBXO28基因的从头变异，从而诊断出FBXO28相关的DEE。6个月、12个月和32个月时的磁共振（MR）波谱显示，含N-乙酰天冬氨酸和胆碱的化合物减少，肌醇水平增加。结论：磁共振波谱显示FBXO28相关DEE的神经化学紊乱，即继发于星形胶质细胞增生的神经元损伤的髓鞘形成紊乱。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Brain & Development 医学-临床神经学

CiteScore

3.60

自引率

0.00%

发文量

153

审稿时长

50 days

期刊介绍： Brain and Development (ISSN 0387-7604) is the Official Journal of the Japanese Society of Child Neurology, and is aimed to promote clinical child neurology and developmental neuroscience. The journal is devoted to publishing Review Articles, Full Length Original Papers, Case Reports and Letters to the Editor in the field of Child Neurology and related sciences. Proceedings of meetings, and professional announcements will be published at the Editor''s discretion. Letters concerning articles published in Brain and Development and other relevant issues are also welcome.