Kocaoǧlu, C.Akin, F.Sert, A.Çaksen, H.Öner, V.Kiliçaslan, C.Arslan, S.2025-05-102025-05-1020121301-08832-s2.0-84875732800https://hdl.handle.net/20.500.14720/57Neuronal ceroid lipofuscinoses are the most common neurodegenerative childhood-onset disorders characterized by autosomal recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual failure, and premature death. At least eleven subtypes of childhood-onset neuronal ceroid lipofuscinoses have been identified. The most common types are the infantile and classic juvenile forms. In this article, we present a 5-yearold girl with late infantile neuronal ceroid lipofuscinosis who presented with seizures and decreased visual acuity. She was healthy and her developmental milestones were normal until 3 years of age. At the age of 3-year-old, her intractable seizures started and decreased visual acuity was recognized. Based on the clinical findings and enzymatic test results, she was diagnosed as late-infantile ceroid lipofuscinosis.eninfo:eu-repo/semantics/closedAccessNeuronal Ceroid LipofuscinosisSeizureVisual FailureArticle173N/AQ4138141