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Erschienen in:
01.07.2020 | Case Report
Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations
Erschienen in: Child's Nervous System | Ausgabe 7/2020
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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.