title: Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case without elevated white matter lactate.
abstract: A 17-year-old Indian boy with gradually progressive ataxia with onset at 12 years of age is described. Magnetic resonance imaging (MRI) of the brain revealed extensive, inhomogeneous signal abnormalities in the cerebral white matter, with involvement of selected tracts in the brain stem and spinal cord. The imaging findings were characteristic of leukoencephalopathy with brain stem and spinal cord involvement and high lactate, a recently described leukodystrophy. Interestingly, magnetic resonance spectroscopy of the abnormal white matter did not reveal elevated lactate. The patient was compound heterozygous for 2 new mutations in DARS2, genetically confirming the diagnosis.
authors.affiliation: Division of Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Suvasini
authors.initials: S
authors.lastname: Sharma
authors.forename: Naveen
authors.initials: N
authors.lastname: Sankhyan
authors.forename: Atin
authors.initials: A
authors.lastname: Kumar
authors.forename: Gert C
authors.initials: GC
authors.lastname: Scheper
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: Sheffali
authors.initials: S
authors.lastname: Gulati
mesh_terms: D000293:Adolescent; D001226:Aspartate-tRNA Ligase / Q000235:genetics*; D001933:Brain Stem / Q000378:metabolism*; D006801:Humans; D019344:Lactic Acid / Q000378:metabolism*; D056784:Leukoencephalopathies / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D013116:Spinal Cord / Q000378:metabolism*
chemical_list: D019344:Lactic Acid; D001226:Aspartate-tRNA Ligase; C558608:DARS2 protein, human