title: 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.
authors.affiliation: Department of Pediatric Neurology, Ankara Children's Hematology-Oncology Training and Research Hospital, Diskapi/Ankara, Turkey birdilge@gmail.com.
authors.forename: Birce Dilge
authors.initials: BD
authors.lastname: Taskin
authors.affiliation: Department of Pediatric Neurology, Ankara Children's Hematology-Oncology Training and Research Hospital, Diskapi/Ankara, Turkey.
authors.forename: Zeynep Selen
authors.initials: ZS
authors.lastname: Karalok
authors.affiliation: Department of Pediatric Neurology, Ankara Children's Hematology-Oncology Training and Research Hospital, Diskapi/Ankara, Turkey.
authors.forename: Esra
authors.initials: E
authors.lastname: Gurkas
authors.affiliation: Gazi University Medical Faculty, Gazi University Hospital, Ankara, Turkey.
authors.forename: Kursad
authors.initials: K
authors.lastname: Aydin
authors.affiliation: Department of Pediatric Neurology, Ankara Children's Hematology-Oncology Training and Research Hospital, Diskapi/Ankara, Turkey.
authors.forename: Ummu
authors.initials: U
authors.lastname: Aydogmus
authors.affiliation: Intergen Moleculer Genetics Diagnosis Center, Ankara, Turkey.
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
authors.affiliation: Dr Ersin Arslan State Hospital, Sahinbey, Gaziantep, Turkey.
authors.forename: Kadri
authors.initials: K
authors.lastname: Karaer
authors.affiliation: Department of Pediatric Neurology, Ankara Children's Hematology-Oncology Training and Research Hospital, Diskapi/Ankara, Turkey.
authors.forename: Cahide
authors.initials: C
authors.lastname: Yilmaz
authors.affiliation: Department of Epilepsy and Clinical Neurophysiology, Boston Children‖s Hospital, Boston, MA, USA.
authors.forename: Phillip Lawrence
authors.initials: PL
authors.lastname: Pearl
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D005260:Female; D005975:Glutamate-tRNA Ligase / Q000235:genetics*; D006801:Humans; D007223:Infant; D056784:Leukoencephalopathies / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D009154:Mutation
chemical_list: C000614184:EARS2 protein, human; D005975:Glutamate-tRNA Ligase
keywords: leukoencephalopathy; magnetic resonance imaging (MRI); mitochondrial DNA translation; mitochondrial aminoacyl–transfer RNA synthetase; mitochondrial disease