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L-2-hydroxyglutaric aciduria in a 17-year-old girl (axial brain MRI sequences)

(A) FLAIR sequence shows bilateral subcortical white matter hyperintensities in frontal, parietal, and temporal lobes. (B) T2-weighted image shows bilateral hyperintensities in the dentate nuclei. (C) T2-weighted image shows bilateral hyperintensities in the basal ganglia. Note the sparing of both thalami in (A) and (C). (Source: Leal-Ortega R, Parra-Medina LE, González-Herrera LJ. L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine. Tremor Other Hyperkinet Mov [N Y] 2024;14:12. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)

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  • Ataxia
  • Cardiomyopathy
  • Cerebellar atrophy
  • Dystonia
  • Mental retardation
  • Primary brain tumors
  • Progressive intellectual deterioration
  • Seizures
  • Subcortical leukoencephalopathy