CT and MR of the brain in the diagnosis of organic acidemias. Experiences from 107 patients

Brain Dev. 1994 Nov:16 Suppl:104-24. doi: 10.1016/0387-7604(94)90103-1.


The results of CT and/or MRI of the brain in 107 patients with different types of organic acidemia are presented. The CSF spaces were wide in more than two-thirds of the patients, in 46 slightly-to-moderately and in 26 markedly-to-severely dilated. Marked widening of the operculae was found in all 5 patients with glutaric acidemia type 1, but open opercula was also found in other organic acidemias. White matter changes were found in about half the patients, in 28 mildly-to-moderately pronounced, in another 28 marked or severe. Basal ganglia or central pathway pathology was seen in a total of 34 patients, i.e. 32%. These changes in 25 patients involved the caudate and/or lentiform nuclei: in 14 cases the T2 signal was increased and volume loss was present, in 9 cases increased T2 signal with preserved volume was found (in one of these the changes were transient). In 2 patients, both with ethylmalonic aciduria (cause unknown), only small high T2 spots were seen in the caudate heads and the putamina. In 4 patients, all suffering from methylmalonic acidemia, only the globus pallidus was affected. In 3 patients, all with beta-ketothiolase deficiency, high T2 intensity changes were seen only in the postero-lateral putamina. The remaining 8 patients represent a variety of different locations of lesions. The CT or MRI findings in many patients with organic acidemias should alert the radiologist that a neurometabolic disorder may be present; in some cases the location and appearance of the lesions may even suggest the correct diagnosis.

Publication types

  • Clinical Trial

MeSH terms

  • Acidosis / urine
  • Amino Acid Metabolism, Inborn Errors / diagnostic imaging
  • Amino Acid Metabolism, Inborn Errors / pathology
  • Amino Acid Metabolism, Inborn Errors / urine
  • Brain / diagnostic imaging
  • Brain / pathology*
  • Carbohydrate Metabolism, Inborn Errors / diagnostic imaging
  • Carbohydrate Metabolism, Inborn Errors / pathology
  • Carbohydrate Metabolism, Inborn Errors / urine
  • Child, Preschool
  • Fatty Acids / metabolism
  • Female
  • Gas Chromatography-Mass Spectrometry
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Metabolism, Inborn Errors / diagnostic imaging
  • Metabolism, Inborn Errors / pathology*
  • Metabolism, Inborn Errors / urine
  • Tomography, X-Ray Computed
  • Vitamins / metabolism


  • Fatty Acids
  • Vitamins