This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Hyland, K. Articles by Arnold, L. A. Search for Related Content PubMed PubMed Citation Articles by Hyland, K. Articles by Arnold, L. A. Social Bookmarking                   What's this?

Value of Lumbar Puncture in the Diagnosis of Genetic Metabolic Encephalopathies

Department of Neurochemistry, Institute of Metabolic Disease, Baylor University Medical Center, Dallas, TX, k.hyland{at}baylordallas.edu

Lauren A. Arnold, MS

From the Department of Neurochemistry, Institute of Metabolic Disease, Baylor University Medical Center, Dallas, TX

Diagnostic testing for genetically determined metabolic disease has for many years relied heavily on the use of generalized screening tests that analyze groups of related compounds in easily accessible peripheral fluids such as plasma and urine. Organic acid profiles in urine and amino acid analysis in plasma are two of the most commonly requested tests; these, together with other protocols that examine peripheral fluids, have been and continue to be invaluable tools. There is, however, an emerging realization that many metabolic encephalopathies do not arise secondary to peripheral metabolic changes but rather have their origins within the central nervous system. In these cases, testing of peripheral fluids might be uninformative. This review is designed to examine the role of cerebrospinal fluid analyses in the investigation of infants and children with undefined encephalopathies. The aims are to review the conditions in which measurement of metabolites in cerebrospinal fluid is critical if a diagnosis is to be made, and to emphasize that considerable forethought is often required to ensure correct collection and handling of cerebrospinal fluid. Thus, fidelity of the diagnostic analytic procedures is maintained. This review will help the pediatric neurologist establish practical diagnostic guidelines that in turn will help in the recognition of recently described conditions. Those conditions can, in general, be identified only after specialized cerebrospinal fluid testing. (J Child Neurol 1999;14(Suppl 1):S9-S15).

Journal of Child Neurology, Vol. 14, No. 1 suppl, S9-S15 (1999)
DOI: 10.1177/0883073899014001031


CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

				R. E. Frye, E. Donner, A. Golja, and C. M. Rooney Folinic Acid--Responsive Seizures Presenting as Breakthrough Seizures in a 3-Month-Old Boy J Child Neurol, August 1, 2003; 18(8): 562 - 569. [Abstract] [PDF]