The lumbar puncture for diagnosis of pediatric neurotransmitter diseases

被引：42

作者：

Hyland, K ^{[1
]}

机构：

[1] Inst Metab Dis, Dallas, TX 75229 USA

来源：

ANNALS OF NEUROLOGY | 2003年 / 54卷

关键词：

D O I：

10.1002/ana.10627

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：S13 / S17

页数：5

共 29 条

[1] Tetrahydrobiopterin deficiencies without hyperphenylalaninemia:: Diagnosis and genetics of DOPA-responsive dystonia and sepiapterin reductase deficiency [J].