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

Birce Dilge Taskin, Zeynep Selen Karalok, Esra Gurkas, Kursad Aydin, Ummu Aydogmus, Serdar Ceylaner, Kadri Karaer, Cahide Yilmaz, Phillip Lawrence Pearl

Journal of child neurology 2016 Jun

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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. © The Author(s) 2016.

Citation

Birce Dilge Taskin, Zeynep Selen Karalok, Esra Gurkas, Kursad Aydin, Ummu Aydogmus, Serdar Ceylaner, Kadri Karaer, Cahide Yilmaz, Phillip Lawrence Pearl. Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation. Journal of child neurology. 2016 Jun;31(7):938-41