eng Science and Education Publishing American Journal of Medical Case Reports 2374-216X 2020-09-25 8 12 508 511 10.12691/ajmcr-8-12-21 AJMCR202081221 article Bithi Debnath Bangladesh.bithidebnath@gmail.com 1 Ramesh Chandra Nath 2 Seikh Azimul Hoque 2 Narayan Chandra Saha 2 Department of Pediatric Neurology, National Institute of Neurosciences and Hospital, Dhaka-1207 Barishal Medical College Hospital, Barishal, Bangladesh The neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of inherited neurodegenerative disorders. Their unifying clinical hallmarks are seizures, visual loss, myoclonus, ataxia, cognitive and motor regression which lead to early death. Based on the clinical onset of symptoms NCL-affected individuals have been classified into six categories. Fourteen genetic forms of NCL (CLN1 to CLN14) have been identified so far. The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations.We report a patient of 9 years from a consanguineous family who presented with progressive visual loss and seizures. Clinical Exome sequencing reveals a homozygous missense mutation in exon 11 of the MFSD8 gene (c.1235C>T, p.Pro412Leu). To our knowledge, this is the first report of MFSD8 gene mutation in a Bangladeshi patient with variant late-infantile NCL. This study also provides information regarding the phenotypic and molecular spectrum of CLN7 disease. http://pubs.sciepub.com/ajmcr/8/12/21/ajmcr-8-12-21.pdf Neuronal ceroid lipofuscinosis (NCL) MFSD8 CLN7 Variant late-infantile NCL visual loss exome sequencing