{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T05:40:14Z","timestamp":1756359614985,"version":"3.44.0"},"reference-count":13,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,12,8]]},"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:p>Neuronal ceroid lipofuscinosis is a rare childhood neurodegenerative disease, classified under the spectrum of progressive myoclonic epilepsy (PME). Cognitive decline, seizures including myoclonus, vision loss and ataxia are the commonly described manifestations of this illness. While visual failure in this disease is largely attributed to retinal, macular degeneration and optic atrophy, with this index case, we report an atypical presentation in the form of higher order visual dysfunction. The pattern of cognitive regression has further been explored here with higher order visual dysfunction and language regression being the predominant manifestations, stemming from an involvement of bilateral occipitoparietal\/occipitotemporal networks. Yet another unique feature of this case also lies in the occurrence of myoclonic-atonic seizure, a semiology rarely reported before in PME.<\/jats:p>","DOI":"10.1136\/bcr-2021-247790","type":"journal-article","created":{"date-parts":[[2022,2,9]],"date-time":"2022-02-09T11:31:50Z","timestamp":1644406310000},"page":"e247790","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Higher order visual dysfunction and myoclonic-atonic seizure: an atypical presentation of CLN6 neuronal ceroid lipofuscinosis"],"prefix":"10.1136","volume":"15","author":[{"given":"Debaleena","family":"Mukherjee","sequence":"first","affiliation":[{"name":"Neuromedicine, Institute of Postgraduate Medical Education and Research Bangur Institute of Neurology, Kolkata, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dwaipayan","family":"Bhattacharyya","sequence":"additional","affiliation":[{"name":"Neuromedicine, Institute of Postgraduate Medical Education and Research Bangur Institute of Neurology, Kolkata, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alak","family":"Pandit","sequence":"additional","affiliation":[{"name":"Neuromedicine, Institute of Postgraduate Medical Education and Research Bangur Institute of Neurology, Kolkata, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1733-3429","authenticated-orcid":false,"given":"Souvik","family":"Dubey","sequence":"additional","affiliation":[{"name":"Neuromedicine, Institute of Postgraduate Medical Education and Research Bangur Institute of Neurology, Kolkata, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,2,9]]},"reference":[{"key":"2025082722022984000_15.2.e247790.1","doi-asserted-by":"publisher","DOI":"10.4103\/0028-3886.68660"},{"key":"2025082722022984000_15.2.e247790.2","first-page":"83","article-title":"Neuronal ceroid-lipofuscinoses","volume":"3","author":"Rakheja","year":"2018","journal-title":"Transl Sci Rare Dis"},{"key":"2025082722022984000_15.2.e247790.3","unstructured":"Neuronal ceroid lipofuscinosis. Available: https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?Expert=216"},{"key":"2025082722022984000_15.2.e247790.4","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1111\/dmcn.14346","article-title":"Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis","volume":"62","author":"Dozi\u00e8res-Puyravel","year":"2020","journal-title":"Dev Med Child Neurol"},{"key":"2025082722022984000_15.2.e247790.5","doi-asserted-by":"crossref","first-page":"203","DOI":"10.12998\/wjcc.v7.i2.203","article-title":"Two cases of variant late infantile ceroid lipofuscinosis in Jordan","volume":"7","author":"Nafi","year":"2019","journal-title":"World J Clin Cases"},{"key":"2025082722022984000_15.2.e247790.6","unstructured":"Neuronal ceroid lipofuscinosis 6. Available: https:\/\/rarediseases.info.nih.gov\/diseases\/1224\/neuronal-ceroid-lipofuscinosis-6"},{"key":"2025082722022984000_15.2.e247790.7","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/62.1.1"},{"key":"2025082722022984000_15.2.e247790.8","unstructured":"Human gene CLN6 (ENST00000249806.11) from GENCODE V38. Available: https:\/\/genome.ucsc.edu\/cgi-bin\/hgGene?db=hg38&hgg_gene=CLN6"},{"key":"2025082722022984000_15.2.e247790.9","unstructured":"Ceroid lipofuscinosis, neuronal, 6A. Available: https:\/\/omim.org\/entry\/601780"},{"key":"2025082722022984000_15.2.e247790.10","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1212\/WNL.0000000000001784","article-title":"Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations","volume":"85","author":"Canafoglia","year":"2015","journal-title":"Neurology"},{"key":"2025082722022984000_15.2.e247790.11","doi-asserted-by":"crossref","first-page":"199","DOI":"10.3233\/PEP-14093","article-title":"Epilepsy in neuronal ceroid lipofuscinoses","volume":"03","author":"Kohlsch\u00fctter","year":"2015","journal-title":"J Pediatr Epilepsy"},{"key":"2025082722022984000_15.2.e247790.12","doi-asserted-by":"crossref","first-page":"192","DOI":"10.4103\/aian.AIAN_61_20","article-title":"Neuronal ceroid lipofuscinoses in children","volume":"24","author":"Kamate","year":"2021","journal-title":"Ann Indian Acad Neurol"},{"key":"2025082722022984000_15.2.e247790.13","doi-asserted-by":"publisher","DOI":"10.1177\/197140091202500616"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-247790","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T05:02:38Z","timestamp":1756357358000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-247790"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2]]},"references-count":13,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,2,9]]},"published-print":{"date-parts":[[2022,2]]}},"alternative-id":["10.1136\/bcr-2021-247790"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-247790","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2022,2]]}}}