Subcortical DNET in a Patient With an Enzymatic Deficiency: A Rare Case and Review of the Literature.
This case report describes a toddler with a medical history of biotinidase deficiency who presented with atypical seizures due to a brain tumor.



This is a case report.



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.



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.
Departments of *Neurosciences †Pediatrics ‡Pathology §Radiology, Medical University of South Carolina, Charleston, SC.
Libby K
LK
Infinger
Samir R
SR
Karia
Stephen L
SL
Kinsman
Edward J
EJ
Kosnik
Cynthia T
CT
Welsh
Donna R
DR
Roberts
Amy-Lee
AL
Bredlau
D028921:Biotinidase Deficiency; D001932:Brain Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D018302:Neoplasms, Neuroepithelial / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000601:surgery; D012640:Seizures / Q000175:diagnosis* / Q000209:etiology; D016896:Treatment Outcome