| Peculiar neuroimaging and electrophysiological findings in a patient with biotinidase deficiency. | |
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MedLine Citation:
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PMID: 21123088 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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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. |
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Authors:
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Marjorie Bunch; Anuradha Singh |
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Publication Detail:
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Type: Journal Article Date: 2010-12-03 |
Journal Detail:
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Title: Seizure : the journal of the British Epilepsy Association Volume: 20 ISSN: 1532-2688 ISO Abbreviation: Seizure Publication Date: 2011 Jan |
Date Detail:
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Created Date: 2011-01-03 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9306979 Medline TA: Seizure Country: England |
Other Details:
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Languages: eng Pagination: 83-6 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved. |
Affiliation:
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NYU School of Medicine, Department of Neurology, New York, NY, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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