Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations
Child's Nervous System, cilt.36, sa.7, ss.1545-1548, 2020 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 36 Sayı: 7
- Basım Tarihi: 2020
- Doi Numarası: 10.1007/s00381-019-04466-9
- Dergi Adı: Child's Nervous System
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
- Sayfa Sayıları: ss.1545-1548
- Anahtar Kelimeler: L-2-hydroxyglutaric aciduria, Medulloblastoma, Glioblastoma multiforme, Cerebral neoplasm
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.