Objective: To assess the clinical usefulness of proton magnetic resonance spectroscopy ((1)H-MRS) in children with neuronopathic Gaucher's disease (NGD).
Methods: A prospective study was conducted upon 21 consecutive children with acute (n = 7) and chronic (n = 14) forms of NGD (13 boys, 8 girls; mean age 37 months) and for a control group (n = 15). All patients and controls underwent (1)H-MRS of frontal white matter. The choline/creatine (Ch/Cr) and N-acetyl aspartate (NAA)/Cr ratios were calculated. A modified severity scoring tool (m-SST) of NGD was calculated and genotyping was performed for all patients. Metabolic ratios were correlated with clinical types, m-SST and genotyping.
Results: There was a significant difference in Ch/Cr (P = 0.001) between patients with NGD and the control group. Lipid peak was detected in 15 patients with NGD. Patients with acute NGD revealed higher m-SST (P = 0.001) and Ch/Cr (P = 0.001) compared with the chronic form. Patients with homozygous gene mutation (L444P/L444P) had significantly higher m-SST (P = 0.001) and Ch/Cr (P = 0.013) than those with the heterozygous gene mutation (L444P/other). The Ch/Cr was negatively correlated with m-SST (r = -0.682; P = 0.001) CONCLUSION: (1)H-MRS can be used to detect brain abnormalities in children with NGD and Ch/Cr is well correlated with m-SST and genotyping.
Key points: • Proton magnetic resonance spectroscopy offers important information in some paediatric neurological conditions. • Significantly different choline/creatine ratios were found between neuronopathic Gaucher's disease and controls. • Lipid peak helps with the diagnosis of neuronopathic Gaucher's disease. • Ch/Cr correlated with the modified severity scoring tool of Gaucher's disease.