title: Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.
abstract: Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a novel mitochondrial disease caused by mutations in EARS2, which encodes the mitochondrial glutamyl-tRNA synthetase (mtGluRS). A distinctive brain MRI pattern is the hallmark of the disease.A 6-year-old boy presented at 3 months with feeding difficulties and muscle hypotonia. Brain MRI, at 8 months, showed hyperintensity of the deep cerebral and cerebellar white matter, thalamus, basal ganglia, brainstem, and thin corpus callosum. From the second year of life onward, the child reported global clinical improvement, parallel to partial resolution of brain MRI pattern. However, the last neuroimaging assessment revealed novel lesions within the left caudate and pallidum nuclei. DNA genomic sequencing analysis identified a novel EARS2 mutation.This case expands the clinical and neuroradiological phenotype of LTBL presenting intermediate clinical manifestations between the severe and milder forms of the disease and previously unreported brain MRI features.
authors: Child Neurology and Psychiatry, Istituto Giannina Gaslini, Genoa, Italy.
authors: Roberta
authors: R
authors: Biancheri
authors: Eleonora
authors: E
authors: Lamantea
authors: Mariasavina
authors: M
authors: Severino
authors: Daria
authors: D
authors: Diodato
authors: Marina
authors: M
authors: Pedemonte
authors: Denise
authors: D
authors: Cassandrini
authors: Alexandra
authors: A
authors: Ploederl
authors: Federica
authors: F
authors: Trucco
authors: Chiara
authors: C
authors: Fiorillo
authors: Carlo
authors: C
authors: Minetti
authors: Filippo M
authors: FM
authors: Santorelli
authors: Massimo
authors: M
authors: Zeviani
authors: Claudio
authors: C
authors: Bruno