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Changes in the subcortical white matter and basal ganglia and the lateral ventricular wall in L-2-hydroxyglutaric aciduria (MRI) (2)

T2-weighted MR images in the index case of a Chinese family with L-2-hydroxyglutaric aciduria revealed symmetrical, high-signal changes in the subcortical white matter and basal ganglia, and the lateral ventricular wall showed multiple nodular, gray-matter heterotopia. (Source: Peng W, Ma XW, Yang X, et al. Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. BMC Med Genet 2018;19[1]:167. Creative Commons Attribution 4.0 License,

Associated Disorders

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