Ceroid Lipofuscinosis Type 2 (Batten Disease) in the clinical context of Romania

Abstract

Batten disease, also known as neuronal ceroid lipofuscinosis (NCL), represents a group of rare neurodegenerative disorders caused by autosomal recessive genetic mutations that affect cellular metabolism. This article provides a detailed analysis of the CLN2 variant of Batten disease in the context of Romania, including data on incidence, diagnosis, and treatment. Diagnosis is based on genetic testing, specific enzymatic activity, imaging methods, and laboratory analyses. The available treatment for the CLN2 variant includes Brineura, an enzyme replacement therapy that can slow the progression of the disease. For other variants, treatment is only symptomatic and involves the use of anticonvulsants and other medications to manage neurological and psychiatric manifestations. The article highlights the importance of early diagnosis and access to free genetic testing for children suspected of CLN2, available in Romania.