Background: Krabbe disease (KD) is a rare hereditary leukodystrophy affecting children mostly in the first 6 months of life; later onset has been reported as well.
Objective: To review abnormalities in neurophysiologic studies in children with KD and determine if there is a correlation between these studies and disease severity as measured by MRI scans.
Methods: KD patients with at least one neurophysiologic study and one MRI scan at the authors' institution were reviewed. Relationships between KD type, neurophysiologic studies, and severity of disease as measured by MRI were explored.
Results: Data were available for 26 children: 20 with early infantile KD (EIKD) and 6 with late-onset KD (LOKD). Flash visual evoked potentials were abnormal in 53% of EIKD children, whereas none of the LOKD children had an abnormal study. Brainstem auditory evoked potentials were abnormal in 88% of EIKD and 40% of LOKD children. EEGs were abnormal in 65% of EIKD and 33% of LOKD children. Nerve conduction studies were abnormal in all children with EIKD and in 20% of LOKD children. Abnormal neurophysiologic studies correlated with more extensive disease as measured by MRI scans.
Conclusions: Children with early infantile Krabbe disease and late-onset Krabbe disease have different patterns of abnormalities in neurophysiologic studies. These studies offer an objective means of assessing KD and correlate well with disease severity measured by MRI scans.