Multimodal quantitative MRI for the assessment of different disease processes in a childhood hypomyelinating leukodystrophy

X-linked Pelizaeus Merzbacher disease is characterized by failure of myelin formation and subsequent axonal damage. Severity of disease courses varies depending on the underlying gene mutation. Eight male patients were recruited for the study. MR-imaging protocol included MTI, MWI for evaluation of myelin related parameters and DTI for assessment of axonal integrity. Decreased values in quantitative MTI and MWI parameter maps and ROI analyses indicated severe myelin deficit in all patients. However, FA reflected various degrees of axonal involvement among patients with deferent genotypes. Multimodal MRI can facilitate assessment of simultaneous disease processes in childhood hypomyelinating leukodystrophies.