Value of Lumbar Puncture in the Diagnosis of Genetic Metabolic Encephalopathies

Abstract

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).