A rare cause of variant late-infantile neuronal ceroid lipofuscinosis: CLN8-related disease

Abstract

Neuronal Ceroid Lipofuscinosis (NCL) is a rare, inherited lysosomal storage disorder characterized by the accumulation of lipofuscin within neuronal cells, leading to progressive neurodegeneration. It is caused by pathogenic variants in at least 14 known genes, resulting in distinct clinical phenotypes. Neuronal ceroid lipofuscinosis presents with varying phenotypes depending on the age of onset and the underlying pathogenic gene variant. This case report highlights a 7-year-old boy with a variant form of late-infantile NCL, caused by a pathogenic variant in the CLN8 gene, who developed developmental regression, seizures, motor dysfunction, and vision loss. This case emphasizes the importance of early recognition, genetic testing, and MRI evaluation for timely diagnosis and management of NCL. It also underscores the need for interdisciplinary collaboration involving neurologists, geneticists, and radiologists in managing patients with neurodegenerative disorders like NCL. Early diagnosis can aid in genetic counseling, family planning, and potential intervention strategies.