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Title: Subcortical DNET in a Patient With an Enzymatic Deficiency: A Rare Case and Review of the Literature
Authors: Infinger, L K;Karia, S R;Kinsman, S L;Kosnik, E J;Welsh, C T;Roberts, D R;Bredlau, A L
Keywords: 2016;38;are;atypical seizure;biotinidase deficiency;child;dnet;dnets;dysembryoplastic neuroepithelial tumor;e291;e294;j pediatr hematol oncol;neurometabolic disorder;ysembryoplastic neuroepithelial tumors
Issue Date: 2016
Abstract: PURPOSE: This case report describes a toddler with a medical history of biotinidase deficiency who presented with atypical seizures due to a brain tumor. METHODS: This is a case report. RESULTS: Electroencephalogram revealed a frontal lobe mass, with magnetic resonance imaging confirmation of a mass extending from the frontal lobe into the genu and anterior corpus callosum. She underwent a near-total resection, and pathology identified a dysembryoplastic neuroepithelial tumor. The patient is now seizure free and clinically doing well. CONCLUSIONS: Children with biotinidase deficiency and atypical seizures should receive a full electroencephalogram evaluation, as brain tumors continue to be on the differential for seizures in this patient population.
Appears in Collections:Oncology

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