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Child's Nervous System
Published in: Child's Nervous System 7/2020

01-07-2020 | Glioblastoma | Case Report

Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations

Authors: Beril Dilber, Cengiz Havalı, Nilgün Eroglu, Kürsad Aydın, Sevim Şahin, Ali Cansu

Published in: Child's Nervous System | Issue 7/2020

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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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Metadata
Title
Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations
Authors
Beril Dilber
Cengiz Havalı
Nilgün Eroglu
Kürsad Aydın
Sevim Şahin
Ali Cansu
Publication date
01-07-2020
Publisher
Springer Berlin Heidelberg
Published in
Child's Nervous System / Issue 7/2020
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI
https://doi.org/10.1007/s00381-019-04466-9

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