High-frequency component in flash visual evoked potentials in type 3 Gaucher disease

Objective: To characterize the visual evoked potentials (VEP) in patients with type 3 Gaucher disease (GD) with or without progressive myoclonus epilepsy.

Methods: Three young adults with progressive myoclonus epilepsy (type 3a GD) and two children without progressive myoclonus epilepsy (type 3b GD) were enrolled. Flash visual and somatosensory evoked potentials (F-VEP and SEP, respectively) were retrospectively reviewed in all patients under enzyme replacement therapy. Pattern reversal visual evoked potentials (PR-VEP) were recorded in the type 3a group.

Result: High-frequency components were provoked at early latencies on averaged F-VEP in all patients with type 3a and one patient with type 3b GD. Conversely, no activities were recorded in PR-VEP. The onset latency of the components began at 15.3-19.8 ms after flash stimulation. Four-five of the F-VEP examination the activities' duration overrode the N75 waveforms and were prolonged toward the P100 peak latency. The F-VEP amplitude did not differ between the type 3a and type 3b groups, while the SEP amplitude was higher in the type 3a than in the type 3b group.

Significance: High-frequency components on F-VEP using bandpass filter at 10-200 Hz may help assess augmented excitability in the visual cortex of type 3 GD patients.