A Case of Late Infantile Ceroid Lipofuscinosis

An Electrophysiological Follow-up Study

Abstract

Electrophysiological follow up studies were carried out on a male suffering from late infantile ceroid lipofuscinosis (CLF) during the ages from 3 to 6 years. In EEG, high voltage slow waves (HVS) and spikes were noted in the occipital area when he was 3 years old, and thereafter they spread diffusely. As the disease progressed, HVS was decreased in voltage, and multiple focal spikes, dominant in the occipital area, appeared. Multimodality evoked potentials (MEPs) were performed when he was 5 years old. Electroretinogram was silent but a giant visual evoked response was obtained. The C-response and a giant somatosensory evoked potential by the median nerve stimulation were present, which were compatible with the findings in cortical reflex myoclonus. The auditory brainstem response remained normal in spite of the atrophy of cerebrum, cerebellum and brainstem observed on CT and prolonged latency of the electrically elicited blink reflex. It was concluded that the brainstem auditory pathway was kept normal although the trigemino-facial pathway was involved. EEG and MEPs were useful for evaluation of the progression of CLF.