A Case of Early Juvenile Neuronal Ceroid Lipofuscinosis.
- Author:
Ok Joon KIM
1
;
Su Il JUN
;
Kyoon HUH
Author Information
1. Department of Neurology, Yonsei University College of Medicine, Korea.
- Publication Type:Case Report
- MeSH:
Adult;
Age of Onset;
Biopsy;
Child;
Humans;
Myoclonus;
Neurodegenerative Diseases;
Neuronal Ceroid-Lipofuscinoses*;
Seizures
- From:Journal of the Korean Neurological Association
1995;13(4):1011-1016
- CountryRepublic of Korea
- Language:Korean
-
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.
