Pranzatelli M R, Huang Y Y, Tate E, Goldstein D S, Holmes C S, Goldstein E M, Ketner K, Kinast M, Lange B M, Sanz A, Shevell M I, Stanford R E, Taff I P
National Pediatric Myoclonus Center, Washington, DC 20036, USA.
Mov Disord. 1998 May;13(3):522-8. doi: 10.1002/mds.870130323.
Children with the opsoclonus-myoclonus syndrome (OMS) usually respond to corticotropin (adrenocorticotrophic hormone, ACTH) treatment but the mechanism of benefit is unknown. We previously showed that both cerebrospinal fluid (CSF) homovanillic acid (HVA) and 5-hydroxyindole-acetic acid (5-HIAA) concentrations are low in pediatric OMS. In this study, we measured levels of CSF Dopa, catecholamines, deaminated metabolites of catecholamines, as well as HVA and 5-HIAA in eight patients before and during treatment with ACTH. All the children were ACTH-responsive with 50-70% improvement in multiple clinical features of OMS. ACTH treatment reduced the HVA concentration in every child by a mean of 21% (p < 0.001). Treatment with ACTH was associated with significant correlations between dopaminergic markers such as HVA, dihydroxyphenylacetic acid (DOPAC), and Dopa. There were no significant changes in the CSF concentrations of the noradrenergic markers norepinephrine (NE) and dihydroxyphenylglycol (DHPG), or the serotonergic marker 5-HIAA. The only child with a marked inflammatory pattern in CSF, which was reversed by ACTH, was atypical for a large increase in NE and decrease in 5-HIAA during ACTH treatment. Beneficial effects of ACTH in OMS are not associated with normalization of HVA or 5-HIAA levels. The pattern of decreased HVA and unchanged DOPAC levels could reflect decreased extraneuronal uptake of catecholamines (which steroids inhibit) or decreased 0-methylation of catecholamines in nonneuronal cells.
患有眼阵挛-肌阵挛综合征（OMS）的儿童通常对促肾上腺皮质激素（促肾上腺皮质激素，ACTH）治疗有反应，但获益机制尚不清楚。我们之前表明，小儿OMS患者的脑脊液（CSF）高香草酸（HVA）和5-羟吲哚乙酸（5-HIAA）浓度均较低。在本研究中，我们测量了8例患者在ACTH治疗前和治疗期间脑脊液中多巴、儿茶酚胺、儿茶酚胺脱氨基代谢产物以及HVA和5-HIAA的水平。所有儿童对ACTH均有反应，OMS的多种临床特征改善了50%-70%。ACTH治疗使每个儿童的HVA浓度平均降低了21%（p<0.001）。ACTH治疗与多巴胺能标志物如HVA、二羟基苯乙酸（DOPAC）和多巴之间存在显著相关性。去甲肾上腺素能标志物去甲肾上腺素（NE）和二羟基苯乙二醇（DHPG）或5-羟色胺能标志物5-HIAA的脑脊液浓度无显著变化。唯一一名脑脊液有明显炎症模式的儿童，其炎症模式被ACTH逆转，该儿童在ACTH治疗期间NE大幅增加和5-HIAA减少的情况并不典型。ACTH对OMS的有益作用与HVA或5-HIAA水平的正常化无关。HVA降低和DOPAC水平不变的模式可能反映了儿茶酚胺的细胞外摄取减少（类固醇可抑制这种摄取）或非神经元细胞中儿茶酚胺的0-甲基化减少。
