an unusual presentation of neuronal ceroid lipofuscinosis with cln6 mutation

Background: neuronal ceroid lipofuscinoses (ncl) is a rare progressive neurodegenerative disorder caused by more than 530 mutations of at least 13 differentgenes (cln 1-14). ncl is a part of the lysosomal disease characterized by the presence of neuronal and extraneural autofluorescent lipopigment accumulations that leads to motor and mental deterioration, developmental regression, seizure, vision loss, and premature death. ncl is classified into four main groups based on the different clinicalmanifestations and age of presentation. in this study, we aimed to report an unusualpresentation of ncl with cln6 mutation without retina involvement. case presentation: we reported a 10-year-old boy with mixed types of seizures,developmental delay, cognitive problems, unsteady gait, and speech disorders. althoughafter a thorough assessment, cln6 mutation was diagnosed, he had all symptoms of thismutation, except the visual impairment.conclusion: according to recent ncl case reports from asia, full familiarity with itspresentation by pediatricians and neurologists is obligatory. children with developmentalregression or refractory seizures, who also have visual or other neurological symptoms such as ataxia and other cerebellar symptoms, even at older ages, should be evaluated for ncl. attention to ophthalmological examinations and neurological signs and confirmingthe diagnosis by biopsy or genetic analysis is desirable to prevent missed diagnosis.