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本文引用的文献

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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.
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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.
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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.
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Megalencephalic leukoencephalopathy with subcortical cysts.
Indian J Pediatr. 2004 May;71(5):473-5. doi: 10.1007/BF02725646.
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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.
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Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.
Neurology. 2003 Aug 26;61(4):534-7. doi: 10.1212/01.wnl.0000076184.21183.ca.
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Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts.
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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.
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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.

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.

DOI:10.1177/1971400915609335
PMID:26427893
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4757224/
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。