Document Detail

Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease.
MedLine Citation:
PMID:  20926213     Owner:  NLM     Status:  In-Data-Review    
Cobalamin C (cblC) defect, the most common inborn error of cobalamin metabolism, is a multisystem disorder usually presenting with progressive neurological, haematological and ophthalmological signs. We report on a cblC patient diagnosed in the newborn age who developed nearly normal during the first year of life. During an upper respiratory tract infection with severe hyperpyrexia at the age of 14months he developed an acute encephalopathic crisis resulting in severe mental retardation and marked internal and external cerebral atrophy. Hyperacute encephalopathic crises have not been observed so far in patients with cblC defect. It remains unclear, if this association is incidental or if the underlying metabolic defect may have predisposed the brain tissue to hyperpyrexia-induced damage.
Sarah Catharina Grünert; Brian Fowler; Andrea Superti-Furga; Jörn Oliver Sass; Karl Otfried Schwab
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Publication Detail:
Type:  Journal Article     Date:  2010-10-05
Journal Detail:
Title:  Brain & development     Volume:  33     ISSN:  1872-7131     ISO Abbreviation:  Brain Dev.     Publication Date:  2011 May 
Date Detail:
Created Date:  2011-04-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  432-6     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Centre for Pediatrics and Adolescent Medicine, University of Freiburg Hospital, Germany.
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