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., ...Daha Fazla

JOURNAL OF CHILD NEUROLOGY, cilt.31, sa.7, ss.938-941, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 7
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1177/0883073816630087
  • Dergi Adı: JOURNAL OF CHILD NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.938-941
  • Anahtar Kelimeler: 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 Üniversitesi Adresli: Evet

Özet

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.