Primary leukodystrophies

被引：0

作者：

Cecil, Kim M. ^{[1
,2
,3
,4
,5
]}

Lindquist, Diana M. ^{[1
,2
]}

机构：

[1] Cincinnati Childrens Hosp Med Ctr, Dept Radiol, Cincinnati, OH 45229 USA

[2] Univ Cincinnati, Coll Med, Cincinnati, OH 45221 USA

[3] Childrens Hosp Med Ctr, Dept Pediat, Cincinnati, OH 45229 USA

[4] Childrens Hosp Med Ctr, Dept Neurosci, Cincinnati, OH 45229 USA

[5] Childrens Hosp Med Ctr, Dept Environm Hlth, Cincinnati, OH 45229 USA

来源：

JOURNAL OF PEDIATRIC NEURORADIOLOGY | 2013年 / 2卷 / 01期

关键词：

Brain; magnetic resonance spectroscopy; leukodystrophy; white matter disease; neuron; axons; myelin;

D O I：

10.3233/PNR-13045

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The term leukodystrophy reflects diseases that are both progressive and genetically determined arising from a gene defect that manages production or metabolism of exclusively one component of myelin. These defects cause imperfect growth, development or maintenance of myelin sheaths. The magnetic resonance imaging and spectroscopic features of six primary leukodystrophies are described and illustrated in this review. This includes Alexander disease, Canavan's disease, Childhood ataxia with central nervous system hypomyelination, Leukoencephalopathy with brain-stem and spinal cord involvement and elevated white matter lactate, Megalencephalic leukoencephalopathy with subcortical cysts, and Pelizaeus-Merzbacher disease.

引用

页码：33 / 45

页数：13

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