Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation. (June 2016)

• Record Type: Journal Article
• Authors: Taskin, Birce Dilge; Karalok, Zeynep Selen; Gurkas, Esra; Aydin, Kursad; Aydogmus, Ummu; Ceylaner, Serdar; Karaer, Kadri; Yilmaz, Cahide; Pearl, Phillip Lawrence
• Is Part Of: Journal of child neurology. Volume 31:Number 7(2016:Jul.)
• Page Start: 938
• Page End: 941
• Publication Date: 2016-06
• Subjects: leukoencephalopathy -- mitochondrial disease -- mitochondrial DNA translation -- magnetic resonance imaging (MRI) -- mitochondrial aminoacyl–transfer RNA synthetase; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073816630087
• Languages: English
• ISSNs: 0883-0738

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.