Neuronal ceroid lipofuscinosis type 2 is a rapidly progressive type of NCL, and its classic form is the most prevalent phenotype (consensus; LE: 4), representing 87% of cases.12However, atypical cases with different phenotypes can be found; the largest cohort of atypical CLN2 from Latin America including 30 patients identified 7 cases from Brazil.13In classic CLN2, the onset of symptoms commonly occurs in early childhood, between 2 to 4 years old (consensus; LE: 2b). Here, TPP1 is linked to neuronal ceroid lipofuscinosis 2.