title: Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.
abstract: Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a recently described autosomal recessive mitochondrial disease characterized by early onset of neurological symptoms, a biphasic clinical course, and distinctive neuroimaging. Pathogenic variants in theEARS2gene that encode for mitochondrial glutamyl-tRNA synthetase are responsible for LTBL. Here, we describe the clinical course of an infant diagnosed with an acute crisis of LTBL and severe liver disease. This article illustrates the utility of blood lactate quantification in addition to basic metabolic testing and brain imaging in a child with low tone and poor growth. In addition, this case demonstrates the utility of current genetic diagnostic testing, in lieu of more invasive procedures, in obtaining rapid answers in this very complicated group of disorders.
authors.affiliation: Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States.
authors.forename: Elizabeth A
authors.initials: EA
authors.lastname: Sellars
authors.affiliation: Division of Neurology, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States.
authors.forename: Tonya
authors.initials: T
authors.lastname: Balmakund
authors.affiliation: Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States.
authors.forename: Katherine
authors.initials: K
authors.lastname: Bosanko
authors.affiliation: Department of Clinical Nutrition, Arkansas Children's Hospital, Little Rock, Arkansas, United States.
authors.forename: Brandi L
authors.initials: BL
authors.lastname: Nichols
authors.affiliation: Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States.
authors.forename: Stephen G
authors.initials: SG
authors.lastname: Kahler
authors.affiliation: Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States.
authors.forename: Yuri A
authors.initials: YA
authors.lastname: Zarate
mesh_terms: D000138:Acidosis / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D001933:Brain Stem / Q000000981:diagnostic imaging*; D003937:Diagnosis, Differential; D005975:Glutamate-tRNA Ligase / Q000235:genetics; D006801:Humans; D007223:Infant; D019344:Lactic Acid / Q000097:blood*; D056784:Leukoencephalopathies / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D008107:Liver Diseases / Q000097:blood / Q000150:complications / Q000000981:diagnostic imaging / Q000628:therapy; D008297:Male; D028361:Mitochondrial Diseases / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D013788:Thalamus / Q000000981:diagnostic imaging*
chemical_list: D019344:Lactic Acid; C000614184:EARS2 protein, human; D005975:Glutamate-tRNA Ligase