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

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dc.authorid0000-0003-1513-6149
dc.contributor.authorDilber, Beril
dc.contributor.authorHavalı, Cengiz
dc.contributor.authorEro?lu, Nilgün
dc.contributor.authorAydın, Kürşad
dc.contributor.authorŞahin, Sevim
dc.contributor.authorCansu, Ali
dc.date.accessioned2020-02-25T13:55:17Z
dc.date.available2020-02-25T13:55:17Z
dc.date.issued2020
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractBackground: 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.
dc.identifier.citationDilber, B., Havalı, C., Ero?lu, N., Aydın, K., Şahin, S. ve Cansu, A. (2020). Cerebral neoplasm in L-2-hydroxyglutaric aciduria: Two different presentations. Child's Nervous System, 36(7), 1545-1548. http://doi.org/10.1007/s00381-019-04466-9
dc.identifier.doi10.1007/s00381-019-04466-9
dc.identifier.endpage1548
dc.identifier.issn0256-7040
dc.identifier.issn1433-0350
dc.identifier.issue7
dc.identifier.scopusqualityQ2
dc.identifier.startpage1545
dc.identifier.urihttp://doi.org/10.1007/s00381-019-04466-9
dc.identifier.urihttps://hdl.handle.net/20.500.12511/4947
dc.identifier.volume36
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringer
dc.relation.ispartofChild's Nervous Systemen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectCerebral Neoplasm
dc.subjectGlioblastoma Multiforme
dc.subjectL-2-Hydroxyglutaric Aciduria
dc.subjectMedulloblastoma
dc.titleCerebral neoplasm in L-2-hydroxyglutaric aciduria: Two different presentations
dc.typeArticle

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