Document Detail

Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency.
MedLine Citation:
PMID:  21123088     Owner:  NLM     Status:  MEDLINE    
We report a patient with biotinidase deficiency with peculiar findings on her MRI brain. Subcortical cysts combined with Dandy Walker cyst on the brain MRI have never been reported. There are many documented case reports of biotinidase deficiency and several of them have included findings on neuroimaging. Subcortical cysts have been documented in one patient with biotinidase deficiency previously and on autopsy in one other patient. Video EEG on the same patient showed evidence of symptomatic generalized epilepsy.
Marjorie Bunch; Anuradha Singh
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2010-12-03
Journal Detail:
Title:  Seizure     Volume:  20     ISSN:  1532-2688     ISO Abbreviation:  Seizure     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-01-03     Completed Date:  2011-11-09     Revised Date:  2014-10-21    
Medline Journal Info:
Nlm Unique ID:  9306979     Medline TA:  Seizure     Country:  England    
Other Details:
Languages:  eng     Pagination:  83-6     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.
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MeSH Terms
Biotinidase Deficiency / diagnosis*,  physiopathology*
Diagnostic Imaging
Electrophysiological Phenomena / physiology
Magnetic Resonance Imaging*
Young Adult

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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