title: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between two siblings.
abstract: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is a rare disorder caused by mutations in the gene encoding a mitochondrial aspartyl-tRNA synthetase, DARS2. Clinical features include childhood or adolescent onset, slowly progressive ataxia, spasticity, and dorsal column dysfunction with or without mild cognitive decline. Magnetic resonance (MR) images show a characteristic leukoencephalopathy with multiple long tract involvement. MR spectroscopy shows elevated levels of lactate. We present strikingly different clinical courses and discrepant MR images findings for a pair of brothers. It cannot be excluded that in the cases presented, the different clinical outcome is related to a varicella infection in infancy in the younger brother.
authors.affiliation: Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Tylki-Szymanska
authors.affiliation: Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Jurkiewicz
authors.affiliation: National Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russia.
authors.forename: Ekaterina Y
authors.initials: EY
authors.lastname: Zakharova
authors.affiliation: Center of Oncology Institute M. Curie-Skłodowska, Gliwice, Poland.
authors.forename: Barbara
authors.initials: B
authors.lastname: Bobek-Billewicz
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D038524:Diffusion Magnetic Resonance Imaging; D006801:Humans; D019344:Lactic Acid / Q000378:metabolism*; D056784:Leukoencephalopathies / Q000378:metabolism* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D035781:Siblings; D013116:Spinal Cord / Q000473:pathology*
chemical_list: D019344:Lactic Acid