Subcortical DNET in a Patient With an Enzymatic Deficiency: A Rare Case and Review of the Literature
Libby K Infinger1, Samir R Karia, Stephen L Kinsman
1Departments of *Neurosciences †Pediatrics ‡Pathology §Radiology, Medical University of South Carolina, Charleston, SC.
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.
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