The neuronal ceroid-lipofuscinosis (NCL) is a group of progressive, inherited neurodegenerative diseases characterized by the deposition of large numbers of autofluorescent cytosomes in most tissues. based on the age at onset, clinical
presentation. and
morphological findings. NCL is divided into four subgroups: infantile, late infantile, juvenild and adult types. Late infantile 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.
|