期刊
JOURNAL OF CHILD NEUROLOGY
卷 31, 期 7, 页码 938-941出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073816630087
关键词
leukoencephalopathy; mitochondrial disease; mitochondrial DNA translation; magnetic resonance imaging (MRI); mitochondrial aminoacyl-transfer RNA synthetase
资金
- NICHD NIH HHS [U54 HD090255] Funding Source: Medline
Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvement and high lactate (LTBL) is a newly described childhood leukoencephalopathy caused by mutations in the gene encoding a mitochondrial aminoacyl-tRNA synthetase specific for glutamate, EARS2. Magnetic resonance images show a characteristic leukoencephalopathy with thalamic and brain stem involvement. Here, we report a different clinical course of LTBL supported by typical MRI features in a Turkish patient who presented with a history of failure to walk. The EARS2 gene mutation analysis identified a c.322C>T transition, predicting a p.R108W change. This is the first reported early-onset mild type LTBL caused by a homozygous EARS2 mutation case in the literature.
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