Presentation
Developmental delay, one year of insidious hearing and vision loss.
Patient Data
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.
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:
leukodystrophy (Alexander disease): can involve the basal ganglia and dentate nucleus
metabolic leukoencephalopathy (L2-hydroxy glutaric aciduria): biochemical analysis was recommended (urine L2-hydroxybutyric-aciduria analysis)
Canavan disease: the brainstem is usually affected while sparing the putamen, caudate, caudate, and dentate nuclei
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