• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

新生儿脑室内膜下独特且异常的假囊肿，伴发线粒体疾病。

Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease.

机构信息

Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.

Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.

出版信息

Sci Prog. 2021 Apr-Jun;104(2):368504211011873. doi: 10.1177/00368504211011873.

DOI:10.1177/00368504211011873
PMID:33890810
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10454983/
Abstract

Neonatal mitochondrial disease is occasionally observed in patients with intraventricular cysts in the brain. Atypical morphology is rarely seen in these cysts. Here, we report a case of neonatal lethal mitochondrial disease with gene mutation. We have, for the first time, described a subependymal pseudocyst (SEPC) with a fluctuating membrane. Our findings suggest that SEPCs with fluctuating membranes can be a potential diagnostic indicator of neonatal mitochondrial disease.

摘要

新生儿脑室内囊肿偶尔会并发线粒体疾病，这种囊肿形态通常不典型。本研究报道了一例由 基因突变导致的新生儿致死性线粒体疾病。首次描述了具有波动性膜的室管膜下假囊肿（SEPC）。研究结果提示，具有波动性膜的 SEPC 可能是新生儿线粒体疾病的潜在诊断指标。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9814/10454983/2ab598f4d18a/10.1177_00368504211011873-fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9814/10454983/15d3e304fbe8/10.1177_00368504211011873-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9814/10454983/1069dc02896e/10.1177_00368504211011873-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9814/10454983/d23d3c6a1541/10.1177_00368504211011873-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9814/10454983/2ab598f4d18a/10.1177_00368504211011873-fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9814/10454983/15d3e304fbe8/10.1177_00368504211011873-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9814/10454983/1069dc02896e/10.1177_00368504211011873-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9814/10454983/d23d3c6a1541/10.1177_00368504211011873-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9814/10454983/2ab598f4d18a/10.1177_00368504211011873-fig4.jpg

相似文献

1
Unique and abnormal subependymal pseudocysts in a newborn with mitochondrial disease.新生儿脑室内膜下独特且异常的假囊肿，伴发线粒体疾病。
Sci Prog. 2021 Apr-Jun;104(2):368504211011873. doi: 10.1177/00368504211011873.
2
Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence.线粒体耗竭综合征胎儿的脑室内周围假性囊肿：是一种关联还是巧合。
Fetal Diagn Ther. 2009;25(2):177-82. doi: 10.1159/000209385. Epub 2009 Mar 25.
3
Neurodevelopment outcome of newborns with cerebral subependymal pseudocysts at 18 and 46 months: a prospective study.脑室内膜下假性囊肿新生儿 18 及 46 个月时的神经发育结局：一项前瞻性研究。
Arch Dis Child. 2013 Jul;98(7):497-502. doi: 10.1136/archdischild-2012-303223. Epub 2013 Apr 27.
4
Prenatal features of isolated subependymal pseudocysts associated with adverse pregnancy outcome.孤立性室管膜下假性囊肿与不良妊娠结局相关的产前特征。
Ultrasound Obstet Gynecol. 2015 Dec;46(6):678-87. doi: 10.1002/uog.14820. Epub 2015 Nov 8.
5
Diagnostic value of subependymal pseudocysts and choroid plexus cysts on neonatal cerebral ultrasound: a meta-analysis.室管膜下假性囊肿和脉络丛囊肿在新生儿颅脑超声检查中的诊断价值：一项Meta分析
Arch Dis Child Fetal Neonatal Ed. 2009 Nov;94(6):F443-6. doi: 10.1136/adc.2008.155028. Epub 2009 Mar 25.
6
Multiple subependymal pseudocysts in neonates play a role in later attention deficit hyperactivity and autistic spectrum disorder.新生儿的多个室管膜下假性囊肿与日后的注意力缺陷多动障碍和自闭症谱系障碍有关。
J Formos Med Assoc. 2019 Mar;118(3):692-699. doi: 10.1016/j.jfma.2018.08.007. Epub 2018 Sep 5.
7
Neonatal subependymal cysts detected by sonography: prevalence, sonographic findings, and clinical significance.超声检查发现的新生儿室管膜下囊肿：患病率、超声表现及临床意义。
AJR Am J Roentgenol. 1994 Apr;162(4):953-6. doi: 10.2214/ajr.162.4.8141023.
8
Connatal periventricular pseudocysts in the neonate.新生儿先天性脑室周围假性囊肿
Pediatr Radiol. 1992;22(1):55-8. doi: 10.1007/BF02011609.
9
Diagnosis of subependymal pseudocyst with cerebral ultrasound.经颅脑超声诊断室管膜下假性囊肿
Lancet. 1980 Jul 26;2(8187):210-1. doi: 10.1016/s0140-6736(80)90103-8.
10
Sonography of subependymal cysts in congenital rubella syndrome.先天性风疹综合征中室管膜下囊肿的超声检查
Eur J Pediatr. 1988 Dec;148(3):206-7. doi: 10.1007/BF00441403.

引用本文的文献

1
Defects in the Maturation of Mitochondrial Iron-Sulfur Proteins: Biophysical Investigation of the MMDS3 Causing Gly104Cys Variant of IBA57.线粒体铁硫蛋白成熟缺陷：导致 IBA57 甘氨酸 104 半胱氨酸变异的 MMDS3 的生物物理研究。
Int J Mol Sci. 2024 Sep 28;25(19):10466. doi: 10.3390/ijms251910466.
2
Fetal and obstetrics manifestations of mitochondrial diseases.线粒体疾病的胎儿和产科表现。
J Transl Med. 2024 Sep 23;22(1):853. doi: 10.1186/s12967-024-05633-6.
3
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history.

本文引用的文献

1
Choroidal neovascularization imaging using multiple en face optical coherence tomography angiography image averaging.使用多重表面光学相干断层扫描血管造影图像平均法进行脉络膜新生血管成像。
Graefes Arch Clin Exp Ophthalmol. 2019 Jun;257(6):1119-1125. doi: 10.1007/s00417-019-04275-5. Epub 2019 Feb 19.
2
Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency.受丙酮酸脱氢酶或丙酮酸羧化酶缺乏影响的胎儿的产前超声描述。
Prenat Diagn. 2018 May 12. doi: 10.1002/pd.5282.
3
mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.
铁硫簇组装基因IBA57突变的表型谱：在中国患者中c.286 T > C被鉴定为具有稳定自然病史的热点突变。
J Hum Genet. 2025 Jan;70(1):25-32. doi: 10.1038/s10038-024-01291-0. Epub 2024 Sep 3.
4
Clinical characteristics of a case of multiple mitochondrial dysfunction syndrome 3.多系统线粒体功能障碍综合征 3 例临床特点
Mol Genet Genomic Med. 2024 Jun;12(6):e2485. doi: 10.1002/mgg3.2485.
5
Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review.多种线粒体功能障碍综合征 3 型：可能影响古巴裔患者的致病性纯合变异体及文献复习。
Genes (Basel). 2022 Nov 6;13(11):2044. doi: 10.3390/genes13112044.
6
Tongue Root Cyst as a Manifestation of the Variant m.3243A>G.舌根囊肿作为m.3243A>G变异的一种表现形式。
Cureus. 2021 Oct 26;13(10):e19060. doi: 10.7759/cureus.19060. eCollection 2021 Oct.
突变消除铁硫簇组装，导致空泡性白质脑病。
Neurol Genet. 2017 Sep 8;3(5):e184. doi: 10.1212/NXG.0000000000000184. eCollection 2017 Oct.
4
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.IBA57基因的新型突变与脑白质营养不良及多种临床表型相关。
J Neurol. 2017 Jan;264(1):102-111. doi: 10.1007/s00415-016-8312-z. Epub 2016 Oct 26.
5
Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.铁硫簇组装基因IBA57的突变会导致致命的婴儿脑白质营养不良。
J Inherit Metab Dis. 2015 Nov;38(6):1147-53. doi: 10.1007/s10545-015-9857-1. Epub 2015 May 14.
6
Prenatal features of isolated subependymal pseudocysts associated with adverse pregnancy outcome.孤立性室管膜下假性囊肿与不良妊娠结局相关的产前特征。
Ultrasound Obstet Gynecol. 2015 Dec;46(6):678-87. doi: 10.1002/uog.14820. Epub 2015 Nov 8.
7
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.ISCA2基因突变导致婴儿期神经退行性线粒体疾病。
J Med Genet. 2015 Mar;52(3):186-94. doi: 10.1136/jmedgenet-2014-102592. Epub 2014 Dec 24.
8
Mitochondrial iron-sulfur protein biogenesis and human disease.线粒体铁硫蛋白生物合成与人类疾病
Biochimie. 2014 May;100:61-77. doi: 10.1016/j.biochi.2014.01.010. Epub 2014 Jan 23.
9
Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency.与丙酮酸脱氢酶缺乏症相关的单侧脑室周围脑白质软化症。
Dev Med Child Neurol. 2012 May;54(5):469-71. doi: 10.1111/j.1469-8749.2011.04108.x. Epub 2011 Sep 6.
10
Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.人类铁硫簇组装、细胞内铁稳态和疾病。
Biochemistry. 2010 Jun 22;49(24):4945-56. doi: 10.1021/bi1004798.