伴有皮质下囊肿的巨脑性白质脑病：一种遗传性脱髓鞘疾病。 - Suppr

Suppr

超能文献

Megalencephalic leukoencephalopathy with sub cortical cysts: An inherited dysmyelinating disorder.

作者信息

Bajaj Sunil Kumar, Misra Ritu, Gupta Rohini, Chandra Ranjan, Malik Amita

机构信息

Department of Radiodiagnosis, Safdarjung Hospital and VM Medical College, New Delhi, India.

出版信息

J Pediatr Neurosci. 2013 Jan;8(1):77-80. doi: 10.4103/1817-1745.111438.

DOI:10.4103/1817-1745.111438

PMID:23772256

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3680908/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d811/3680908/37a8229c18b5/JPN-8-77-g001.jpg

相似文献

Megalencephalic leukoencephalopathy with sub cortical cysts: An inherited dysmyelinating disorder.伴有皮质下囊肿的巨脑性白质脑病：一种遗传性脱髓鞘疾病。

J Pediatr Neurosci. 2013 Jan;8(1):77-80. doi: 10.4103/1817-1745.111438.

Megalencephalic leukoencephalopathy with subcortical cysts in a Tunisian boy.一名突尼斯男孩患有的伴有皮质下囊肿的巨脑性白质脑病。

J Child Neurol. 2009 Jan;24(1):87-9. doi: 10.1177/0883073808324021.

Megalencephalic leukoencephalopathy with subcortical cysts.伴有皮质下囊肿的巨脑性白质脑病

J Child Neurol. 2003 Sep;18(9):646-52. doi: 10.1177/08830738030180091201.

Dysmyelinating neuropathy in benign form of megalencephalic leukoencephalopathy with subcortical cysts: a novel observation from south India.巨脑性白质脑病伴皮质下囊肿良性形式的脱髓鞘性神经病：来自印度南部的一项新观察。

Neurol India. 2007 Oct-Dec;55(4):399-402. doi: 10.4103/0028-3886.33310.

Megalencephalic leukoencephalopathy with subcortical cysts: A report of four cases.伴有皮质下囊肿的巨脑性白质脑病：4例报告

J Pediatr Neurosci. 2011 Jan;6(1):74-7. doi: 10.4103/1817-1745.84416.

Malignant transformation in a case of megalencephalic leukoencephalopathy with subcortical cysts: An extreme rarity in a rare disorder.巨脑性白质脑病伴皮质下囊肿病例中的恶性转化：罕见疾病中的极端罕见情况。

Ann Indian Acad Neurol. 2016 Apr-Jun;19(2):242-4. doi: 10.4103/0972-2327.173303.

Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.埃及患者巨脑性脑白质病伴皮质下囊肿的临床、神经影像学和遗传学特征。

Pediatr Neurol. 2014 Feb;50(2):140-8. doi: 10.1016/j.pediatrneurol.2013.10.008. Epub 2013 Oct 24.

A Very Rare Case of Megalencephalic Leukoencephalopathy With Subcortical Cysts in a Child Born of Non-Consanguineous Marriage in a Non-Predisposed Community.非近亲结婚且无遗传倾向社区出生的儿童中，患有巨脑性白质脑病伴皮质下囊肿的极罕见病例。

Cureus. 2021 Aug 6;13(8):e16941. doi: 10.7759/cureus.16941. eCollection 2021 Aug.

[Megalencephalic leukoencephalopathy with subcortical cysts: report of 4 new cases].[伴有皮质下囊肿的巨脑性白质脑病：4例新病例报告]

J Radiol. 2008 Jul-Aug;89(7-8 Pt 1):891-4. doi: 10.1016/s0221-0363(08)73877-0.

Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.单核细胞和巨噬细胞作为脑积水分流术相关巨脑白质脑病的生物标志物。

Mol Cell Neurosci. 2013 Sep;56:307-21. doi: 10.1016/j.mcn.2013.07.001. Epub 2013 Jul 10.

本文引用的文献

Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.在原代星形胶质细胞中敲低 MLC1 导致细胞空泡化：一种 MLC 疾病细胞模型。

Neurobiol Dis. 2011 Jul;43(1):228-38. doi: 10.1016/j.nbd.2011.03.015. Epub 2011 Apr 3.

Late-onset neuropsychological symptoms in a Japanese patient with megalencephalic leukoencephalopathy with subcortical cysts.

Neuropediatrics. 2006 Oct;37(5):286-90. doi: 10.1055/s-2006-955930.

Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation.伴有囊肿的印度阿加瓦尔巨脑性白质营养不良是由常见的MLC1基因突变引起的。

Neurology. 2004 Mar 23;62(6):878-82. doi: 10.1212/01.wnl.0000115106.88813.5b.

Megalencephalic leukoencephalopathy with subcortical cysts.伴有皮质下囊肿的巨脑性白质脑病

J Child Neurol. 2003 Sep;18(9):646-52. doi: 10.1177/08830738030180091201.

Consciousness disturbances in megalencephalic leukoencephalopathy with subcortical cysts.

Neuropediatrics. 2003 Aug;34(4):211-4. doi: 10.1055/s-2003-42209.

Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts.

Seizure. 2003 Sep;12(6):388-96. doi: 10.1016/s1059-1311(02)00350-3.

Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.

Hum Genet. 2002 Aug;111(2):214-8. doi: 10.1007/s00439-002-0770-y. Epub 2002 Jul 16.

Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel.伴有皮质下囊肿的空泡性巨脑白质脑病，定位于22号染色体长臂末端。

Am J Hum Genet. 2000 Feb;66(2):733-9. doi: 10.1086/302758.

Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases.

Brain Dev. 1998 Apr;20(3):142-53. doi: 10.1016/s0387-7604(98)00002-3.

Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases.

J Child Neurol. 1996 Nov;11(6):439-44. doi: 10.1177/088307389601100604.

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