Neuronal ceroid lipofuscinosis type 11 in early childhood

Neuronal ceroid lipofuscinosis comprises a group of heterogeneous lysosomal storage disorders characterised by the accumulation of autofluorescent ceroid lipopigment, leading to progressive neurological deterioration. Based on the gene-based classification of NCL, 14 loci have been identified to date. This report describes a case of a man in his early 20s, born to second-degree consanguineous parents, with disease onset at 6 years of age. The patient presented with progressive vision loss secondary to retinal degeneration and recurrent seizures. Genetic testing using next-generation whole exome sequencing revealed a homozygous pathogenic mutation in the progranulin gene (GRN) in exon 12 (c.1469delp. Val490GlyfsTer27), confirming a diagnosis of CLN type-11 (OMIM#614706).