Document Detail


Infantile ictal apneas in a child with williams-beuren syndrome.
MedLine Citation:
PMID:  23337011     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
Williams-Beuren syndrome is a genetic disorder rarely associated with seizures. The few described cases of Williams-Beuren syndrome and epilepsy have primarily involved infantile spasms and deletions extending beyond the common deletion region for this disorder. We present the case of a 5-week-old child with ictal apneas and typical Williams-Beuren syndrome deletion. Diagnosis was challenging, because the child had cardiac, respiratory, and gastrointestinal abnormalities typically associated with Williams-Beuren syndrome, which are also associated with cyanotic episodes. The results of interictal electroencephalography were normal, illustrating that prolonged electroencephalography is often essential in evaluation of suspected ictal apneas. Seizure freedom was achieved with carbamazepine. Sudden death is seen in Williams-Beuren syndrome, and this case raises the question whether some of these cases may be related to ictal apneas and could potentially be preventable with appropriate pharmaceutical intervention.
Authors:
Kenneth A Myers; D Ross McLeod; Luis Bello-Espinosa
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  48     ISSN:  1873-5150     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  149-51     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Elsevier Inc. All rights reserved.
Affiliation:
Division of Neurology, Department of Pediatrics, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada. Electronic address: kmyers@ucalgary.ca.
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