Neuronal ceroid lipofuscinosis (NCL) is characterized by ataxia, epilepsy, mental and motor deterioration, and visual loss. The phenotype of patients is highly heterogeneous. We report a patient with late-infantile-onset psychomotor retardation, visual loss, seizure, movement disorder, and recurrent bone fractures. Clinical exome sequencing revealed a novel homozygous c.1113_1116del, p.Y371fs mutation in CLN5. No variant was detected associated with simple bone cyst. While NCL disease is difficult disease in itself, recurrent fractures significantly increased morbidity. This case report contributes to genotypic spectrum of CLN5 and emphasizes clinical importance of Turkish patients with CLN5 mutations, and non-NCL factors/diseases can adversely affect morbidity.
Keywords: CLN5; Turkish; fracture; morbidity; neuronal ceroid lipofuscinosis; novel mutation.