J Korean Neurol Assoc.
1995 Dec;13(4):1011-1016.
A Case of Early Juvenile Neuronal Ceroid Lipofuscinosis
- Affiliations
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- 1Department of Neurology, Yonsei University College of Medicine, Korea.
- 2Department of Dermatology, Yonsei University College of Medicine, Korea.
- 3Department of Neurology, Ajou University, College of Medicine, Korea.
Abstract
- The neuronal ceroid-lipofuscinosis (NCL) is a group of progressive,. Inherited neurodegenerative diseases characterized by the deposition of large numbers o autofluorescent cytosomes in most tissues. Based on the age at onset, clinical presentation, and morphological findings, NCL is divided into four subgroups: infantile, late inf antile, juvenile and adult types. Late inf antile NCL is characterized by age of onset 2.5-4 years, early seizure, frequent myoclonic jerk, late visual failure, whereas juvenile NCL by age of onset 4-7 years, early visual failure, late seizure, infrequent myoclonic jerks. We experienced unusual form of NCL as diagnosed by tissue biopsy. The patient is a 11 years old with a mixture form of juvenile and late infantile NCL, being called early juvenile NCL.
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