Document Detail

Value of lumbar puncture in the diagnosis of infantile epilepsy and folinic acid-responsive seizures.
MedLine Citation:
PMID:  12597055     Owner:  NLM     Status:  MEDLINE    
Seizures are one of the most frequently occurring neurologic phenomena in childhood; an inborn error of metabolism should always be considered in the diagnostic workup of patients with seizures after more common causes have been excluded. Many of the known inborn metabolic errors associated with seizures can be detected by metabolite measurement in urine or blood. It is now recognized, however, that there are several conditions in which peripheral metabolite profiles remain normal. Abnormal metabolism is indicated only by the accumulation or absence of specific metabolites within the central nervous system. Some of these disorders can be detected by in vivo magnetic resonance spectroscopy. More often, an etiology can be ascertained only by analysis of specific metabolites in cerebrospinal fluid. This review describes the utility of cerebrospinal fluid metabolite analysis in the differential diagnosis of inborn errors of metabolism that lead to infantile epilepsy. These include disorders of central nervous system energy metabolism, creatine synthesis and transport, serine biosynthesis, and glucose transport, together with defects affecting the gamma-aminobutyric acid (GABA), catecholamine, and serotonin neurotransmitter systems. In addition, information is provided regarding detection of an early-onset seizure disorder that responds to folinic acid.
Keith Hyland; Lauren A Arnold
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of child neurology     Volume:  17 Suppl 3     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2002 Dec 
Date Detail:
Created Date:  2003-02-24     Completed Date:  2003-05-07     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  3S48-55; discussion 3S56     Citation Subset:  IM    
Department of Neurochemistry, Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas 75226, USA.
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MeSH Terms
Anticonvulsants / therapeutic use*
Biogenic Amines / metabolism
Biological Markers / cerebrospinal fluid
Laboratory Techniques and Procedures
Leucovorin / therapeutic use*
Metabolism, Inborn Errors / cerebrospinal fluid,  complications,  diagnosis*
Spasms, Infantile / cerebrospinal fluid*,  drug therapy,  etiology
Spinal Puncture
Treatment Outcome
Reg. No./Substance:
0/Anticonvulsants; 0/Biogenic Amines; 0/Biological Markers; 58-05-9/Leucovorin

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

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