A Case of Adult Neuronal Ceroid-Lipofuscinosis, Proven by Brain Biopsy.
- Author:
Soon Keum LEE
1
;
Joong Koo KANG
;
Sang Ahm LEE
;
Jung Kyo LEE
;
Sin Kwang KANG
Author Information
1. Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine.
- Publication Type:Case Report
- Keywords:
Neuronal ceroid lipofuscinosis;
Granular osmiophilic deposits (GROD)
- MeSH:
Adult*;
Age of Onset;
Atrophy;
Biopsy*;
Brain*;
Electroencephalography;
Female;
Gait Ataxia;
Humans;
Magnetic Resonance Imaging;
Myoclonus;
Neurodegenerative Diseases;
Neuronal Ceroid-Lipofuscinoses*;
Neurons*;
Seizures;
Young Adult
- From:Journal of the Korean Neurological Association
2001;19(1):45-48
- CountryRepublic of Korea
- Language:Korean
-
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, 2001
