L-2-hydroxyglutaric aciduria

Case contributed by Iman Saadallah Mohammad


Developmental delay, one year of insidious hearing and vision loss.

Patient Data

Age: 6 years
Gender: Male

Bilateral supra tentorial extensive white matter hyperintensities at T2, predominantly anteriorly involving subcortical white matter, to a lesser extent involving deep periventricular white matter.

High signal intensities involve the basal ganglia (caudate and lentiform nucleus) and dentate nucleus.

Urine organic acid analysis


The diagnosis depends on the identification of L-2-Hydroxyglutaric aciduria in urine.

Case Discussion

The feature described of white matter disease, with affection subcortical U-fibers, basal ganglia, and dentate nuclei, the differential diagnosis:

  1. leukodystrophy (Alexander disease): can involve the basal ganglia and dentate nucleus

  2. metabolic leukoencephalopathy (L2-hydroxy glutaric aciduria): biochemical analysis was recommended (urine L2-hydroxybutyric-aciduria analysis)

  3. Canavan disease: the brainstem is usually affected while sparing the putamen, caudate, caudate, and dentate nuclei

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