title: Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
abstract: OBJECTIVE
  To determine the prevalence of dopaminergic abnormalities in 1388 children with neurological disorders, and to analyse their clinical, neuroradiological, and electrophysiological characteristics.
  
  
  METHODS
  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.
  
  
  RESULTS
  Twenty-one patients with primary dopaminergic deficiencies were identified. Of the whole sample, 20% showed altered HVA. We report neurological diseases with abnormal CSF HVA values such as pontocerebellar hypoplasia, perinatal asphyxia, central nervous system infections, mitochondrial disorders, and other genetic diseases. Overlapping HVA levels between primary and secondary dopamine deficiencies were observed. Prevalence of low CSF HVA levels was significantly higher in neonatal patients (χ(2) =84.8, p<0.001). Abnormalities in white matter were associated with low CSF HVA (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 HVA values pointing towards primary diseases can be stated. We report several neurological diseases showing HVA alterations. No neuroimaging traits were associated with low HVA values, except for white matter abnormalities.
authors.affiliation: Neurometabolic Unit, Hospital Sant Joan de Déu and Centre for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Molero-Luis
authors.forename: Mercedes
authors.initials: M
authors.lastname: Serrano
authors.forename: Aida
authors.initials: A
authors.lastname: Ormazábal
authors.forename: Belén
authors.initials: B
authors.lastname: Pérez-Dueñas
authors.forename: Angels
authors.initials: A
authors.lastname: García-Cazorla
authors.forename: Roser
authors.initials: R
authors.lastname: Pons
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
mesh_terms: D000293:Adolescent; D000465:Algorithms; D001238:Asphyxia Neonatorum / Q000134:cerebrospinal fluid; D001921:Brain / Q000473:pathology; D002494:Central Nervous System Infections / Q000134:cerebrospinal fluid; D002648:Child; D002675:Child, Preschool; D004298:Dopamine / Q000134:cerebrospinal fluid / Q000172:deficiency; D005260:Female; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D038622:Internationality; D008279:Magnetic Resonance Imaging; D008297:Male; D028361:Mitochondrial Diseases / Q000134:cerebrospinal fluid; D009422:Nervous System Diseases / Q000097:blood / Q000134:cerebrospinal fluid* / Q000000981:diagnostic imaging / Q000503:physiopathology; D009849:Olivopontocerebellar Atrophies / Q000134:cerebrospinal fluid; D011859:Radiography; D012494:Sampling Studies
chemical_list: D004298:Dopamine; D006719:Homovanillic Acid