A CASE OF JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

Abstract

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).