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

Taskin B. D., Karalok Z. S., Gurkas E., Aydin K., Aydogmus U., Ceylaner S., ...More

JOURNAL OF CHILD NEUROLOGY, vol.31, no.7, pp.938-941, 2016 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31 Issue: 7
  • Publication Date: 2016
  • Doi Number: 10.1177/0883073816630087
  • Journal Name: JOURNAL OF CHILD NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.938-941
  • Keywords: leukoencephalopathy, mitochondrial disease, mitochondrial DNA translation, magnetic resonance imaging (MRI), mitochondrial aminoacyl-transfer RNA synthetase, TRANSFER-RNA SYNTHETASE, MARIE-TOOTH-DISEASE, BRAIN-STEM, INVOLVEMENT
  • Gazi University Affiliated: Yes

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.