Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings

ŞAHİN S., CANSU A., KALAY E., DİNÇER T., KUL S., CAKIR I. M., ...Daha Fazla

JOURNAL OF THE NEUROLOGICAL SCIENCES, cilt.365, ss.54-58, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 365
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1016/j.jns.2016.04.008
  • Dergi Adı: JOURNAL OF THE NEUROLOGICAL SCIENCES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.54-58
  • Anahtar Kelimeler: Leukodystrophy, Mitochondrial disease, LTBL, Child, Nuclear gene, DEFICIENCY, SPECTRUM, LTBL
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

Leulcoencephalopathy with thalamus and braintem involvement, and high lactate (LTBL) is a recently identified disease related to mutations in the EARS2 gene encoding glutamyl-tRNA synthetase. We report clinical and radiological findings for two siblings with new pathogenic mutations in the EARS2 gene. Both patients showed symptoms of mild-type disease, but there were clinical differences between the two siblings. While the older brother had hypotonia and delayed developmental milestones, the younger brother had seizures and spasticity in the lower extremities. Brain magnetic resonance imaging (MRI) findings were quite similar for the two siblings. MRI findings were specific to LTBL. MRI lesions of the older sibling had regressed over time. Clinical and radiological improvement, as in the previously reported patients with LTBL, may be an important clue for diagnosis. (C) 2016 Elsevier B.V. All rights reserved.