A CASE OF JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

Neuronal ceroid lipofuscinosis (NCL) is a group of lysosomal neuro degenerative disorder inherited by autosomal recessive inheritance. This is characterized by accumulation of lipofuscin and ceroid pigment in neuronal and non-neuronal cells. The incidence of NCL in Europe and North America is 1 in 12500(1). They usually manifest during childhood and young adolescents in the form of progressive loss of vision, dementia, tonic clonic seizures with myclonic jerks and cerebral and cerebellar atrophy (2). They are genetically classified into 8 types, NCL1 to NCL8. Their pathophysiology is poorly understood and involves a combination of storage process and progressive loss of nerve cells. They are caused by defect in lysosomal enzymes namely palmitoyl protein thioesterase in CLN1 and tripeptidyl peptidase in CLN2. In some others, there is membrane proteins of unknown function are deficient. They are generally incurable and lead to early death (3).