{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T10:44:13Z","timestamp":1780397053950,"version":"3.54.1"},"reference-count":8,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,4,21]]},"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:p>Neuronal ceroid lipofuscinosis comprises a group of heterogeneous lysosomal storage disorders characterised by the accumulation of autofluorescent ceroid lipopigment, leading to progressive neurological deterioration. Based on the gene-based classification of NCL, 14 loci have been identified to date. This report describes a case of a man in his early 20s, born to second-degree consanguineous parents, with disease onset at 6 years of age. The patient presented with progressive vision loss secondary to retinal degeneration and recurrent seizures. Genetic testing using next-generation whole exome sequencing revealed a homozygous pathogenic mutation in the progranulin gene (<jats:italic>GRN<\/jats:italic>) in exon 12 (c.1469delp. Val490GlyfsTer27), confirming a diagnosis of CLN type-11 (OMIM#614706).<\/jats:p>","DOI":"10.1136\/bcr-2025-265803","type":"journal-article","created":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T07:45:32Z","timestamp":1746171932000},"page":"e265803","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Neuronal ceroid lipofuscinosis type 11 in early childhood"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-6565-7377","authenticated-orcid":false,"given":"Chinmaya","family":"Singh","sequence":"first","affiliation":[{"name":"General Medicine, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-7975-1364","authenticated-orcid":false,"given":"Nc","family":"Kiran","sequence":"additional","affiliation":[{"name":"General Medicine, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geeta","family":"Kampani","sequence":"additional","affiliation":[{"name":"General Medicine, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India"},{"name":"General Medicine, Dr Ram Manohar Lohia Hospital and Post Graduate Institute of Medical Education and Research, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamakshi","family":"Dhamija","sequence":"additional","affiliation":[{"name":"Neurology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,5,2]]},"reference":[{"key":"2025082723534736000_18.5.e265803.1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/62.1.1"},{"key":"2025082723534736000_18.5.e265803.2","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12632"},{"key":"2025082723534736000_18.5.e265803.3","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1542\/peds.44.4.570","article-title":"Neuronal ceroid-lipofuscinosis (Batten\u2019s disease): relationship to amaurotic family idiocy?","volume":"44","author":"Zeman","year":"1969","journal-title":"Pediatrics"},{"key":"2025082723534736000_18.5.e265803.4","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813494268"},{"key":"2025082723534736000_18.5.e265803.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.021"},{"key":"2025082723534736000_18.5.e265803.6","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1093\/brain\/awz377","article-title":"Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms","volume":"143","author":"Huin","year":"2020","journal-title":"Brain (Bacau)"},{"key":"2025082723534736000_18.5.e265803.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2019.03.004"},{"key":"2025082723534736000_18.5.e265803.8","doi-asserted-by":"crossref","first-page":"811686","DOI":"10.3389\/fneur.2022.811686","article-title":"Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview","volume":"13","author":"Simonati","year":"2022","journal-title":"Front Neurol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-265803","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T06:53:54Z","timestamp":1756364034000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-265803"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5]]},"references-count":8,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,5,2]]},"published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1136\/bcr-2025-265803"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-265803","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5]]}}}