Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
Charles M LourençoAndre PessoaCarmen C MendesCarolina Rivera-NietoDiane VergaraMónica TroncosoEmily GardnerFrancisca MallorensLina TaveraLuis A LizcanoNora AtanacioNorberto GuelbertNorma SpecolaNury MancillaCarolina Fischinger Moura de SouzaSara E MolePublished in: Journal of paediatrics and child health (2020)
Our findings reinforce the inclusion of CLN2 in the differential diagnosis of children presenting with seizures, behavioural disorders and language abnormalities. Early diagnosis will allow early initiation of specific therapy.