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Childs Nerv Syst. 2020 Apr 05;:
Authors: Ahluwalia R, Miles L, Hayes L, Scherer A
Abstract
PURPOSE: The purpose of this study was to review a case of a septal dysembryoplastic neuroepithelial tumor (sDNT) and compare it to cases reported in the current literature.
METHODS: We review a case of sDNT and compare with 7 other previously noted cases in the literature.
RESULTS: The mainstay treatment is gross total resection, and most patients achieve full clinical resolution. Septal dysembryoplastic neuroepithelial tumor (sDNT) is a rare pediatric disease most commonly presenting as intractable epilepsy or headache. sDNT has been recognized as a genotypically distinct entity from DNT. A high frequency (~ 80%) of mutations of platelet-derived growth factor receptor A (PDGFRA) has been isolated in sDNT and could form the basis for future therapy. MRI is most commonly used to radiographically diagnose the disease and usually demonstrates a lobular interventricular mass involving the septum, potentially extending to the third ventricle.
CONCLUSIONS: Our case and literature review validates endoscopic biopsy as a diagnostic and therapeutic intervention.
PMID: 32249358 [PubMed - as supplied by publisher]
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