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The lumbar puncture for diagnosis of pediatric neurotransmitter diseases
Author(s) -
Hyland Keith
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10627
Subject(s) - hyperphenylalaninemia , neurotransmitter , dopamine , lumbar puncture , catecholamine , cerebrospinal fluid , serotonin , medicine , norepinephrine , lumbar , central nervous system , biology , surgery , biochemistry , receptor , amino acid , phenylalanine
The investigation of infants and children with suspected pediatric neurotransmitter diseases affecting serotonin and catecholamine metabolism is complicated because the measurement of metabolites in peripheral fluids is generally uninformative. Disorders that affect catecholamine (dopamine and norepinephrine) and serotonin neurotransmission, and that do not present with hyperphenylalaninemia, require that a lumbar puncture be performed and that specific metabolites be assessed in the collected cerebrospinal fluid. This review will discuss the disorders affecting catecholamine and serotonin biosynthesis, sample collection and handling, diagnostic methods and expected profiles, problems with diagnosis, and as yet to be described conditions that might be detected using current diagnostic methodologies. Ann Neurol 2003;54 (suppl 6):S13–S17