A 9-year-old girl presented to us with insidious onset difficulty in walking, recurrent falls, anxiety, and poor scholastic performance from age 5 years. Her MRI findings (figure) were classic of L-2-hydroxyglutaric aciduria (L2-HGA). However, similar findings are also seen in Leigh syndrome, 3-hydroxy-3-methylglutaric aciduria, and succinic semialdehyde dehydrogenase deficiency. Urine analysis showed elevated levels of L-2-hydroxyglutaric acid, which confirmed the diagnosis. L2-HGA is a rare autosomal recessive metabolic disorder due to deficiency of L-2-hydroxyglutarate dehydrogenase.1 The characteristic MRI findings in this condition are bilateral symmetrical basal ganglia and dentate nuclei involvement along with subcortical white matter abnormality.2
Axial T2-weighted MRIs show (A) bilateral symmetrical white matter (WM) hyperintensity (red arrows) in the centripetal pattern involving subcortical and deep WM, with sparing of periventricular WM (white arrows). (B) Hyperintense basal ganglia (white arrows) with more hyperintensity along the outer rim of the putamen (outer rim sign, red arrow). (C) Hyperintense dentate nucleus (white arrows). (D) The fluid-attenuated inversion recovery image shows rarefaction (white arrows).
Author contributions
S. Sundaram: biochemical and clinical workup of the patient. V. S: reporting of MRI and differential diagnosis. S. Sivadasan: manuscript preparation and critical revision of the manuscript.
Study funding
No targeted funding reported.
Disclosure
The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.
Acknowledgment
The authors thank Sajith R, Technical Assistant (Imaging Sciences and Intervention Radiology), who helped in obtaining high-quality MRIs.
Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Teaching slides links.lww.com/WNL/A703
- © 2018 American Academy of Neurology
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