Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019
Cerebral neoplasm in L-2-hydroxyglutaric aciduria: two different presentations.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Dilber Beril, Havalı Cengiz, Eroglu Nilgün, Aydın Kürsad, Şahin Sevim, Cansu Ali
Аннотация
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.
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.