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
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
