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J Korean Neurol Assoc. 1995;13(4):1011-1016.
- A Case of Early Juvenile Neuronal Ceroid Lipofuscinosis
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Ok Joon Kim, M.D., Su Il Jun, M.D., Kyoon Huh, M.D.
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Department of Neurology, Dermatology, Yonsei University College of Medicine, Department of Neurology, Ajou University, College of Medicine
- Early juvenile Neuronal Ceroid-Lipofuscinosis 1예
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김옥준, 전수일, 허 균
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연세대학교 신경과. 피부과, 아주대학교 신경과
- 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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- 초록
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