两名患有范德·克纳普白质脑病姐妹的磁共振成像结果。
Magnetic resonance imaging findings of two sisters with Van der Knaap leukoencephalopathy.
作者信息
Koç Koray, Koç Pınar, Karaali Kamil, Olgaç Dündar Nihal, Şenol Utku, Canan Arzu
机构信息
Antalya Ataturk State Hospital, Radiology Clinics, Antalya, Turkey
Antalya Training and Research Hospital, Radiology Clinics, Antalya, Turkey.
出版信息
Neuroradiol J. 2015 Oct;28(5):519-22. doi: 10.1177/1971400915609335. Epub 2015 Oct 1.
Abstract
Megalencephalic leukoencephalopathy with subcortical cysts, or Van der Knaap leukoencephalopathy, is a rare disease which is characterised by macrocephaly and neurological disorders with autosomal recessive inheritance. Magnetic resonance imaging is very helpful for determining distinctive findings and distinguishing other diseases. We present the radiological findings of two sisters (aged 6 and 10 years) diagnosed with Van der Knaap leukoencephalopathy.
摘要
伴有皮质下囊肿的巨脑性白质脑病，即范德克纳普白质脑病，是一种罕见疾病，其特征为巨头畸形和神经系统疾病，呈常染色体隐性遗传。磁共振成像对于确定独特表现及鉴别其他疾病非常有帮助。我们展示了两名被诊断为范德克纳普白质脑病的姐妹（分别为6岁和10岁）的影像学表现。
相似文献
1
Magnetic resonance imaging findings of two sisters with Van der Knaap leukoencephalopathy.两名患有范德·克纳普白质脑病姐妹的磁共振成像结果。
Neuroradiol J. 2015 Oct;28(5):519-22. doi: 10.1177/1971400915609335. Epub 2015 Oct 1.
2
Van der Knaap disease: a rare disease with atypical features.范德·克纳普病：一种具有非典型特征的罕见疾病。
BMJ Case Rep. 2015 Jul 23;2015:bcr2015209831. doi: 10.1136/bcr-2015-209831.
3
Van der Knaap Disease.范德·克纳普病
J Coll Physicians Surg Pak. 2018 Nov;28(11):888-890. doi: 10.29271/jcpsp.2018.11.888.
4
Van Der Knaap Disease: Young Male with Megalencephalic Leukoencephalopathy with Subcortical Cysts: A Case Report.范德克纳普病：伴有皮质下囊肿的巨脑性脑白质营养不良的年轻男性：病例报告。
Neurol India. 2022 Nov-Dec;70(6):2437-2439. doi: 10.4103/0028-3886.364064.
5
Van der Knaap Disease (Vanishing White Matter) - Unusual Presentation in a Neonate: A Case Report.范德·克纳普病（消失性白质病）——新生儿的罕见表现：一例病例报告
Neurol India. 2020 May-Jun;68(3):669-672. doi: 10.4103/0028-3886.289018.
6
Teaching NeuroImages: megaloencephalic leukoencephalopathy with subcortical cysts (Van der Knaap disease).教学神经影像：伴有皮质下囊肿的巨脑性白质脑病（范德·克纳普病）
Neurology. 2011 Feb 22;76(8):e34. doi: 10.1212/WNL.0b013e31820d8b2f.
7
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.
8
Bipolar disorder in megalencephalic leukoencephalopathy with subcortical cysts: a case report.巨脑白质脑病伴脑下囊肿中的双相情感障碍：病例报告。
BMC Psychiatry. 2020 Jul 3;20(1):349. doi: 10.1186/s12888-020-02750-6.
9
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) - a case with clinical and magnetic resonance imaging (MRI) dissociation.伴有皮质下囊肿的巨脑性白质脑病（MLC）—— 1例临床与磁共振成像（MRI）分离的病例
Arq Neuropsiquiatr. 2015 Feb;73(2):171-2. doi: 10.1590/0004-282X20140206.
10
Megalencephalic leukoencephalopathy with subcortical cysts.伴有皮质下囊肿的巨脑性白质脑病
Indian Pediatr. 2005 Jan;42(1):60-3.
本文引用的文献
1
Atypical MRI findings in Canavan disease: a patient with a mild course.卡纳万病的非典型磁共振成像表现：1例病程较轻的患者
Neuropediatrics. 2005 Oct;36(5):336-9. doi: 10.1055/s-2005-872878.
2
Megalencephalic leukoencephalopathy with subcortical cysts.伴有皮质下囊肿的巨脑性白质脑病
Indian Pediatr. 2005 Jan;42(1):60-3.
3
Non-progressive leukoencephalopathy with bilateral anterior temporal cysts: a case report and review of the literature.伴有双侧颞叶前部囊肿的非进行性白质脑病：一例报告并文献复习
Brain Dev. 2005 Jan;27(1):73-7. doi: 10.1016/j.braindev.2004.04.009.
4
Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts.与皮质下囊肿相关的巨脑性白质脑病中MLC1蛋白的定位及功能分析
Hum Mol Genet. 2004 Nov 1;13(21):2581-94. doi: 10.1093/hmg/ddh291. Epub 2004 Sep 14.
5
Megalencephalic leukoencephalopathy with subcortical cysts.
Indian J Pediatr. 2004 May;71(5):473-5. doi: 10.1007/BF02725646.
6
Megalencephalic leukoencephalopathy with subcortical cysts: MRI and proton spectroscopic features.伴有皮质下囊肿的巨脑性白质脑病：MRI及质子波谱特征
Neurol India. 2003 Dec;51(4):525-7.
7
Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.
Neurology. 2003 Aug 26;61(4):534-7. doi: 10.1212/01.wnl.0000076184.21183.ca.
8
Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts.
Seizure. 2003 Sep;12(6):388-96. doi: 10.1016/s1059-1311(02)00350-3.
9
Bilateral temporal cysts in a case of subacute sclerosing panencephalitis.
Eur J Paediatr Neurol. 2003;7(2):81-4. doi: 10.1016/s1090-3798(03)00018-7.
10
Neuroimaging findings in late infantile GM1 gangliosidosis.晚发性婴儿型GM1神经节苷脂贮积症的神经影像学表现。
AJNR Am J Neuroradiol. 1998 Oct;19(9):1628-30.
Zotero 插件