ABSTRACT

The neuronal ceroid lipofuscinoses (NCLs) are a group of progressive neurodegenerative disorders characterised by abnormal accumulation of ceroid and lipofuscin in lysosomes and the cytoplasm. The progressive accumulation of ceroid and lipofuscin in the central nervous system leads to psychomotor retardation, vision loss, and epilepsy. NCLs are the most common neurodegenerative diseases of childhood, and a diagnosis of NCLs should be considered in individuals presenting with characteristic clinical symptoms and magnetic resonance imaging findings. A definitive diagnosis should be confirmed by an enzyme activity assay, skin biopsy or variant analysis. We present a case of infantile NCL with a novel variant.