L-2-Hydroxyglutaric aciduria: MRI in seven cases |
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| Authors: | L D'Incerti L Farina I Moroni G Uziel M Savoiardo |
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| Institution: | (1) Department of Neuroradiology, Istituto Nazionale Neurologico “C. Besta”, Via Celoria 11, I-20133 Milan, Italy Tel.: +39-02-2 39 44 49 Fax: +39-02-70 63 82 17, IT;(2) Department of Child Neurology, Istituto Nazionale Neurologico “C. Besta”, Milan, Italy, IT |
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| 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.
Received: 5 January 1998 Accepted: 22 April 1998 |
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| Keywords: | L-2-Hydroxyglutaric aciduria Brain magnetic resonance imaging |
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