EEG and evoked potentials in infantile neuronal ceroid-lipofuscinosis.

Sixteen children with infantile neuronal ceroid-lipofuscinosis (INCL), age range 0.5 to 5.4 years, were studied using EEG, electroretinograms (ERG), visual evoked potentials (VEP) and somatosensory evoked potentials (SEP). Electroencephalography was the first of these examinations to reveal abnormalities, however the EEG may be normal at the preclinical stage. The first abnormality to appear was an attenuated reaction to passive eye opening and closing which was followed by disturbances in background activity and diminution in amplitude, and by disappearance of sleep spindles. The gradual disappearance of posterior rhythm reactivity and of sleep spindles suggests that thalamic dysfunction progresses with time. EEG inactivity appeared by the age of 3 years. Evoked potentials were normal in the early stages of the disease. SEP showed abnormalities at Stage 2 (1.7 years), while ERG and VEP abnormalities appeared at Stage 3 (by the age of 2.5 years). All neurophysiological reactions examined were abolished by the age of 4 years. Follow-up EEG gives important hints as to the early diagnosis of INCL. Progression of the disease can be followed by evoked potentials which may also be helpful in the differential diagnostics.