title: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient.
abstract: Leukoencephalopathy with brain stem and spinal cord involvement and elevated white matter lactate (LBSL) is a very rare autosomal recessive mitochondrial disorder. Clinically patients have slowly progressive ataxia, pyramidal syndrome and dorsal column dysfunction. The disease is defined on the basis of characteristic abnormalities observed on magnetic resonance imaging such as inhomogeneous, spotty involvement of the cerebral white matter, selective involvement of brain stem and spinal cord tracts as well as lactate elevation in the affected white matter on spectroscopy. We present the first identified Polish patient suffering from LBSL confirmed molecularly.
authors.affiliation: Department of Child Neurology, Institute of Mother and Child, Warsaw, Poland. m.figatowska@mp.pl
authors.forename: Hanna
authors.initials: H
authors.lastname: Mierzewska
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: Gert C
authors.initials: GC
authors.lastname: Scheper
authors.forename: Monika
authors.initials: M
authors.lastname: Bekiesinska-Figatowska
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Szczepanik
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Jurkiewicz
mesh_terms: D001226:Aspartate-tRNA Ligase / Q000235:genetics; D001921:Brain / Q000473:pathology; D001933:Brain Stem / Q000737:chemistry; D004252:DNA Mutational Analysis; D006801:Humans; D019344:Lactic Acid / Q000032:analysis; D056784:Leukoencephalopathies / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D009154:Mutation; D011044:Poland; D013116:Spinal Cord / Q000737:chemistry / Q000473:pathology; D055815:Young Adult
chemical_list: D019344:Lactic Acid; D001226:Aspartate-tRNA Ligase; C558608:DARS2 protein, human