Cerebrospinal fluid markers in children with cerebral white matter abnormalities

Disorders of the cerebral white matter in children constitute a heterogeneous group and the diagnostic work is often complicated. Clinical and radiological characteristics can provide diagnostic clues but there is a need for further diagnostic methods. This study focused on assessing neurochemical "markers" in the cerebrospinal fluid considered to reflect damage to white matter components such as myelin and glial cells as well as neurones with their axons and synapses. The aim was to evaluate whether they contributed to the elucidation of pathogenic processes and the direction of further diagnostic efforts. Seventeen of the 26 cases had increased levels of the glial cell marker ganglioside GD3, indicating gliosis, or of the CNS myelin marker sulfatide, indicating myelin disturbance. As signs of disturbed maturation or sustenance, the nerve cell markers GD1 b, GT1 b and total gangliosides were reduced, as was the synapse marker GD1a. Increased 5-HIAA indicated increased serotonergic turnover. Children with an increased level of the axonal marker Tau protein had a progressive disease whereas GD1a was reduced in the progressive group (n = 11). In contrast, GD3 and HVA were increased in the non-progressive group (n = 15). The chemical profiles were found to be useful, in combination with clinical and radiological findings, when investigating children with white matter abnormalities.