Document Detail


Metabolic testing in the pediatric epilepsy unit.
MedLine Citation:
PMID:  18279754     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Unexplained mental retardation is noted in up to 3% of the general population, and upwards of 30% of these patients manifest epilepsy. There is no standardized approach to metabolic testing in these patients. In a first step toward a standardized approach for our center, we performed a retrospective evaluation of testing of our patients in the past. Records of 429 children admitted to our pediatric epilepsy-monitoring center in 2005 were reviewed. We noted whether they had developmental delay, their type of epilepsy, and the extent of metabolic testing. Ninety percent of our patients had developmental delay, and 20% received some form of metabolic testing. Abnormal results suggesting mitochondrial dysfunction were found in 28% of our patients without a previous underlying diagnosis. Metabolic abnormalities were found in 75% of those with multifocal interictal discharges. Secondary carnitine deficiency was identified in 22%; these patients were taking valproic acid. Primary or secondary metabolic abnormalities likely represent a prominent finding in these patients. Differential diagnoses involving mitochondrial dysfunction should receive serious consideration. Findings such as carnitine deficiency can be identified and treated. A systematic approach for such testing is needed. A prospective evaluation at our institution is planned.
Authors:
Sumit Parikh; Bruce H Cohen; Ajay Gupta; Deepak K Lachhwani; Elaine Wyllie; Prakash Kotagal
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  38     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2008 Mar 
Date Detail:
Created Date:  2008-02-18     Completed Date:  2008-05-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  191-5     Citation Subset:  IM    
Affiliation:
Center for Pediatric Neurology, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA. parikhs@ccf.org
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Amino Acids / blood*
Ammonia / blood
Carnitine / analogs & derivatives,  metabolism
Child
Child, Preschool
Electroencephalography
Epilepsy / diagnosis*,  metabolism*,  physiopathology
Female
Follow-Up Studies
Humans
Infant
Magnetic Resonance Imaging / methods
Male
Pediatrics*
Retrospective Studies
Chemical
Reg. No./Substance:
0/Amino Acids; 0/acylcarnitine; 541-15-1/Carnitine; 7664-41-7/Ammonia

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


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