期刊
BRAIN & DEVELOPMENT
卷 34, 期 2, 页码 151-155出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2011.03.010
关键词
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Here, we report a male child with Schinzel-Giedion syndrome associated with intramyelinic edema detected on brain magnetic resonance imaging (MRI) and persistent suppression-burst pattern on electroencephalography (EEG) with erratic myoclonus of the extremities and face. Similar to nonketotic hyperglycinemia, Schinzel-Giedion syndrome may be recognized as another causative genetic disease of early myoclonic encephalopathy and vacuolating rnyelinopathy. (C) 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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