EPNS Case Discussion – Complex movement disorders in atypical CLN2 disease

Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) is a rare lysosomal storage disease caused by a deficiency in TPP1 enzyme activity. Lack of disease awareness and the non-specificity of presenting symptoms often contribute to delayed diagnosis. We report a late-onset case of atypical CLN2 disease from West Africa, presenting with a complex movement disorder phenotype in the absence of epilepsy and other classical CLN2 features. We highlight the importance of recognising movement disorders in CLN2 disease, their potentially significant disease burden, and pharmacological treatment challenges. As we improve our understanding of the spectrum of movement disorders associated with CLN2 disease, regular assessment and treatment of movement disorders, especially in atypical forms, should be encouraged.