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Neuroradiology. 1998 Nov;40(11):727-33.

L-2-Hydroxyglutaric aciduria: MRI in seven cases.

Author information

1
Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Milan, Italy.

Abstract

The MRI findings in 7 patients with L-2-Hydroxyglutaric aciduria (L-2-OHG aciduria) are described and compared with previous neuroradiological reports and the only three published pathological cases. Signal abnormalities involved peripheral subcortical white matter, basal ganglia and dentate nuclei. Cerebellar atrophy was present. Although similar appearances may be seen in other metabolic disorders, the distribution of signal abnormalities in L-2-OHG aciduria is highly characteristic and may suggest the correct diagnosis.

PMID:
9860123
[Indexed for MEDLINE]

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