Abstract
Background
L-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.
Conclusion
Patients with L2HGA have an increased risk for the development of cerebral neoplasms.
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Beril Dilber, Cengiz Havalı, Nilgün Eroğlu, Kürsad Aydın, Sevim Şahin, and Ali Cansu contributed to the medical care and diagnose of this study.
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Dilber, B., Havalı, C., Eroglu, N. et al. Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations. Childs Nerv Syst 36, 1545–1548 (2020). https://doi.org/10.1007/s00381-019-04466-9
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DOI: https://doi.org/10.1007/s00381-019-04466-9