Electrophysiological and cranial computed tomographical follow-up study on a case of late infantile ceroid lipofuscinosis

Electrophysiological and cranial computed tomographical follow-up studies were carried out on a male suffering from late infantile ceroid lipofuscinosis (CLF) during the ages from 3 to 7 and the following results were obtained. 1. Electroencephalographic findings. (1) Spike and slow waves were noted in the occipital area initially when he was 3 years old, and these abnormalities spread rapidly to entire cereberum thereafter. (2) Occipital spikes and spike-slow waves synchronized with low frequency photic stimuli (1 -- 3 c/s) were confirmed as an important diagnostic indicator of CLS. 2. Other electrophysilogical findings. Findings of both silent electroretinogram and hyper-responded sensory evoked potential by median nerve stimulation, performed when he was 5 years old, were also important diagnostic indicators in addition to EEG findings. 3. Cranial computed tomography (CCT), CCT revealed mild cortical atrophy of the cereberum and cerebellum when he was 4 years old. Yearly CCT examinations from 4 to 7 years of age showed marked progressive diffuse atrophy, suggesting more severe involvement of gray matter than white matter. (author)