ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2020
Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 6 citations in OpenAlex.
- Genetic, neuroimaging, and clinical characteristics of a cohort of individuals with L-2-hydroxyglutaric aciduria from Türkiye.Journal of pediatric endocrinology & metabolism : JPEM · 2025Article
- Inactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53.Cell death and differentiation · 2025Article
- Association between the Anatomical Location of Glioblastoma and Its Evaluation with Clinical Considerations: A Systematic Review and Meta-Analysis.Journal of clinical medicine · 2024Review
- L-2-Hydroxyglutaric Aciduria: An Ever-Expanding Phenotypic Spectrum.Annals of Indian Academy of NeurologyArticle
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6 authors at 3 institutions in 1 country.
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Abstract
backgroundL-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder characterized by a slowly progressive clinical course, psychomotor and mental retardation, macrocephaly, dysarthria, seizures, and cerebellar and extrapyramidal findings. The diagnosis depends on the presentation of increased levels of L-2-hydroxyglutaric acid in the urine, plasma, and cerebrospinal fluids. Patients with L2HGA have an increased risk for the development of cerebral neoplasms which, though rarely, can be the initial presentation of the disease. Moreover, patients with L2HGA have an increased risk for the development of cerebral neoplasms. CASES PRESENTATION: Although psychomotor and mental retardation, macrocephaly, dysarthria, seizures, and cerebellar and extrapyramidal findings are the most common characteristics of the disease, we present two rare cases admitted with tumoral symptoms.
conclusionPatients with L2HGA have an increased risk for the development of cerebral neoplasms.
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