title: Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings.
abstract: Leukoencephalopathy with thalamus and brainstem 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.
authors.affiliation: Department of Pediatric Neurology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey. Electronic address: sevimsahin1@yahoo.com.
authors.forename: Sevim
authors.initials: S
authors.lastname: Şahin
authors.affiliation: Department of Pediatric Neurology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
authors.forename: Ali
authors.initials: A
authors.lastname: Cansu
authors.affiliation: Department of Medical Biology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
authors.forename: Ersan
authors.initials: E
authors.lastname: Kalay
authors.affiliation: Department of Medical Biology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
authors.forename: Tuba
authors.initials: T
authors.lastname: Dinçer
authors.affiliation: Department of Radiology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
authors.forename: Sibel
authors.initials: S
authors.lastname: Kul
authors.affiliation: Department of Radiology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
authors.forename: İsmet Miraç
authors.initials: İM
authors.lastname: Çakır
authors.affiliation: Department of Pediatric Neurology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
authors.forename: Tülay
authors.initials: T
authors.lastname: Kamaşak
authors.affiliation: Department of Medical Biology, Karadeniz Technical University Health Science Institute, Trabzon, Turkey.
authors.forename: Gülden Yorgancıoğlu
authors.initials: GY
authors.lastname: Budak
mesh_terms: D015415:Biomarkers / Q000097:blood; D001933:Brain Stem / Q000000981:diagnostic imaging*; D002648:Child; D005975:Glutamate-tRNA Ligase / Q000235:genetics*; D006801:Humans; D007223:Infant; D019344:Lactic Acid / Q000097:blood*; D056784:Leukoencephalopathies / Q000097:blood / Q000000981:diagnostic imaging* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D035781:Siblings; D013788:Thalamus / Q000000981:diagnostic imaging*
chemical_list: D015415:Biomarkers; D019344:Lactic Acid; C000614184:EARS2 protein, human; D005975:Glutamate-tRNA Ligase
keywords: Child; LTBL; Leukodystrophy; Mitochondrial disease; Nuclear gene