All issues > Volume 35(2); 1992

Case Report

J Korean Pediatr Soc. 1992;35(2):252-256. Published online February 15, 1992.

A Case of Neuronal Ceroid-Lipofuscinosis with characterstic photic evoked spikes in EEG

Joo Hyun JH Han¹, Jae Won JW Oh¹, Jae Hoon JH Shin¹, In Joon IJ Seol¹, Young Hyae YH Koh², Moon Hyang MH Park²

¹Department of Pediatrics, College of Medicine, Hanyang University, Seoul, Korea
²Department of Pathology, College of Medicine, Hanyang University, Seoul, Korea

Abstract

We experienced a case of neuronal ceroid lipofuscinosis in a 1 year old female child. Her chief complaints on admission were retarded growth and development, recurrent seizures and hypotonia. Electroencephalographic examination showed very characteristic photic responses, so called, photic evoked spikes which are synchronous with the flashes at 5 flashes per second. Final diagnosis was made with electron microscopic examination of peripheral blood lymphocyte, which showed finger printed body. We presented a case with brief review of related literatures.

Keywords :Neuronal ceroid lipofuscinosis