To determine the prevalence of dopaminergic abnormalities in 1388 children with neurological disorders, and to analyse their clinical, neuroradiological, and electrophysiological characteristics.
METHODS AND RESULTS: We studied biogenic amines in 1388 cerebrospinal fluid (CSF) samples from children with neurological disorders (mean age 3y 10mo, SD 4y 5mo; 712 males, 676 females. Correlations among CSF Homovanillic acid (HVA) values and other biochemical, clinical, neuroradiological, and electrophysiological parameters were analysed. Twenty-one patients with primary dopaminergic deficiencies were identified. Of the whole sample, 20% showed altered Homovanillic acid. We report neurological diseases with abnormal CSF Homovanillic acid values such as pontocerebellar hypoplasia, perinatal asphyxia, central nervous system infections, mitochondrial disorders, and other genetic diseases. Overlapping Homovanillic acid levels between primary and secondary dopamine deficiencies were observed. Prevalence of low CSF Homovanillic acid levels was significantly higher in neonatal patients (χ(2) =84.8, p<0.001). Abnormalities in white matter were associated with low CSF Homovanillic acid (odds ratio 2.3, 95% confidence interval 1.5-3.5). CONCLUSIONS: HVA abnormalities are observed in various neurological diseases, but some are probably an unspecific finding. No clear limits for CSF Homovanillic acid values pointing towards primary diseases can be stated. We report several neurological diseases showing Homovanillic acid alterations. No neuroimaging traits were associated with low Homovanillic acid values, except for white matter abnormalities. |