Cerebrospinal Fluid Neurotransmitters, Pterins, Folates and Amino Acids in Paediatric Onset Epilepsies: A Tertiary...

Area of Science:

• Neurology
• Biochemistry
• Pediatrics

Background:

• Paediatric onset epilepsies present diagnostic challenges.
• Cerebrospinal fluid (CSF) analysis offers insights into neurological disorders.
• Biomarkers like biogenic amines, pterins, amino acids, and folates are potential diagnostic tools.

Purpose of the Study:

• To evaluate the clinical utility of CSF testing for specific metabolites in paediatric epilepsy.
• To identify correlations between metabolite levels and epilepsy characteristics.
• To assess the diagnostic yield of CSF analysis for metabolic disorders.

Main Methods:

• Retrospective analysis of 123 paediatric epilepsy patients.
• Biochemical phenotyping via CSF measurement of neurotransmitters, pterins, amino acids, and folates (2009-2022).
• Correlation of metabolite levels with seizure frequency, comorbidities, and treatment.

Main Results:

• Diagnostic yield for primary neurotransmitter disorders was 1.68%.
• Elevated CSF homovanillic acid (HVA) and HVA/5-hydroxyindolacetic acid (5HIAA) ratio correlated with higher seizure frequency.
• Lower 3-O-methyldopa (3-OMD) linked to neurodevelopmental disorders; altered pterins/folates associated with movement disorders.
• Lower CSF glutamine in polytherapy patients; altered amino acids in patients with status epilepticus history.

Conclusions:

• CSF metabolite profiling reveals associations with epilepsy severity and comorbidities.
• Specific metabolite patterns may indicate underlying metabolic disturbances or disease progression.
• CSF analysis provides valuable clinical information beyond traditional diagnostic methods.