A Case of Early Juvenile Neuronal Ceroid Lipofuscinosis

J Korean Neurol Assoc > Volume 13(4); 1995 > Article

Journal of the Korean Neurological Association 1995;13(4): 1011-1016.

Early juvenile Neuronal Ceroid-Lipofuscinosis 1예

김옥준, 전수일, 허 균

연세대학교 신경과. 피부과, 아주대학교 신경과

A Case of Early Juvenile Neuronal Ceroid Lipofuscinosis

Ok Joon Kim, M.D., Su Il Jun, M.D., Kyoon Huh, M.D.

Department of Neurology, Dermatology, Yonsei University College of Medicine, Department of Neurology, Ajou University, College of Medicine

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.