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Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.


ABSTRACT: 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.

SUBMITTER: Taskin BD 

PROVIDER: S-EPMC6020828 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature

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Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.

Taskin Birce Dilge BD   Karalok Zeynep Selen ZS   Gurkas Esra E   Aydin Kursad K   Aydogmus Ummu U   Ceylaner Serdar S   Karaer Kadri K   Yilmaz Cahide C   Pearl Phillip Lawrence PL  

Journal of child neurology 20160218 7


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 glutam  ...[more]

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