A Case of Adult Neuronal Ceroid-Lipofuscinosis, Proven by Brain Biopsy

J Korean Neurol Assoc > Volume 19(1); 2001 > Article

Journal of the Korean Neurological Association 2001;19(1): 45-48.

뇌조직생검으로 확진된 성인형 Neuronal Ceroid-Lipofuscinosis (Kufs disease)1예

이순금, ·강중구 ·이상암 ·이정교*·강신광**

울산대학교 의과대학 서울중앙병원 신경과,신경외과*,진단병리과**

A Case of Adult Neuronal Ceroid-Lipofuscinosis, Proven by Brain Biopsy

Soon Keum Lee, M.D., Joong Koo Kang, M.D., Sang-Ahm Lee, M.D., Jung-Kyo Lee, M.D.*, Sin Kwang Kang, M.D.**

Department of Neurology, Neurosurgery* & Pathology** Asan Medical Center, University of Ulsan College of Medicine

Abstract

A 20-year-old woman was admitted because of intractable seizures, myoclonus, gait ataxia, and severe intellectual deterioration with age of onset at 16 years. She had no family history of neurological disease. A thorough laboratory investigation was unremarkable. Brain MRI showed generalized cerebral and cerebellar atrophy. Interictal EEG showed intermittent generalized polyspike and waves, maximum on the bilateral parieto-occipital areas, and MNSEP showed giant cortical SEP. Brain biopsy revealed intraneuronal accumulation of granular osmiophilic deposits (GROD), which is characteristic of electromicroscopic findings of neuronal ceroid lipofuscinosis (NCL). We report biopsy-proven adult NCL, which is one of the rare neurodegenerative diseases. J Korean Neurol Assoc 19(1):45~48, 2001Key Words : Neuronal ceroid lipofuscinosis, Granular osmiophilic deposits (GROD)