{"title":"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","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":"{\"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}","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}
Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathy
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.
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.
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