ArticleRadiology case reports2020
Findings on serial MRI in a childhood case of L2-hydroxyglutaric aciduria.
Article in Radiology case reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Riboflavin treatment in L-2-hydroxyglutaric aciduria: report on a pediatric patient and literature review.Journal of applied genetics · 2026Review
- Article
- 2-Hydroxyglutarate in onco-pathway: a metabolic driver of proto-oncogene activation.Frontiers in oncology · 2026Review
- L-2-hydroxyglutaric aciduria - review of literature and case series.Annals of medicine and surgery (2012) · 2023Article
- A novel missense variant in the L2HGDH gene in a cat with L-2-hydroxyglutaric aciduria and multicystic cerebral lesions.Journal of veterinary internal medicine · 2023Article
- Article
- A Case Report of Chronic Progressive Pancerebellar Syndrome with Leukoencephalopathy:L-2 Hydroxyglutaric Aciduria.Movement disorders clinical practice · 2020Article
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1 author.
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Abstract
We report of a 15-year-old patient who initially presented to the specialist children's hospital with neurologic problems including developmental delay, behavioral difficulty and poor cognition. Upon organic acid testing, the patient received a diagnosis of L2-hydroxyglutaric aciduria (L2HGA). Serial MRI scans were performed throughout the patients childhood, demonstrating an evolution of imaging features as the disease progressed. A radiologist's recognition of the key findings associated with L2HGA can help prompt the diagnosis in cases of a nonspecific clinical presentation. This case report highlights the key radiological features associated with L2HGA, whilst illustrating how these changes may evolve and appear over the time course of a patient's journey.
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