J Korean Neurol Assoc.
2001 Jan;19(1):45-48.
A Case of Adult Neuronal Ceroid-Lipofuscinosis, Proven by Brain Biopsy
- Affiliations
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- 1Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine.
- 2Department of Neurosurgery, Asan Medical Center, University of Ulsan College of Medicine.
- 3Department of 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, 2001
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