{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T11:37:24Z","timestamp":1786361844277,"version":"build-2736575974"},"reference-count":7,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,7,31]]},"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:p>\n                    An early adolescent boy, born to a consanguineously married couple, with mild baseline developmental delay, presented with fever-triggered acute encephalopathy manifesting as ataxia, tremors and seizures. Neuroimaging revealed multifocal, symmetric involvement of the insular cortex, basal ganglia, temporo-occipital regions and cerebellum with diffusion restriction. Extensive infectious, autoimmune and metabolic evaluation during the first episode was inconclusive, and he was treated as immune-mediated encephalitis with partial recovery. Three months later, febrile illness precipitated a severe relapse with neurological regression, movement disorder and progressive cerebellar atrophy on follow-up imaging. Given the relapsing fever-triggered course, baseline developmental delay, incomplete recovery, negative autoimmune workup and progressive neuroimaging changes without new inflammatory lesions, a genetic aetiology was suspected. Genetic testing identified a homozygous variant in the\n                    <jats:italic>NUP214<\/jats:italic>\n                    gene, supporting a diagnosis of acute infection-induced encephalopathy type 9. This case highlights the importance of considering genetic susceptibility in children with recurrent infection-triggered encephalopathy and atypical recovery.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2026-272121","type":"journal-article","created":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T11:25:21Z","timestamp":1786361121000},"page":"e272121","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Adolescent onset of susceptibility to acute infection-induced encephalopathy-9 mimicking immune-mediated encephalitis"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-0492","authenticated-orcid":false,"given":"Vykuntaraju K","family":"Gowda","sequence":"first","affiliation":[{"name":"Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Archana","family":"Varghese","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Varunvenkat M","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amena","family":"Nayyer","sequence":"additional","affiliation":[{"name":"Peiatric Radiology, Indira Gandhi Institute of Child Health, Bengaluru, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,8,10]]},"reference":[{"key":"2026081004251647000_19.8.e272121.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.05.003"},{"key":"2026081004251647000_19.8.e272121.2","unstructured":"Ebert M . AAP updates guidance on genetic testing for developmental delay. AAP News 2025."},{"key":"2026081004251647000_19.8.e272121.3","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-01979-w"},{"key":"2026081004251647000_19.8.e272121.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2009.10.007"},{"key":"2026081004251647000_19.8.e272121.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.12.009"},{"key":"2026081004251647000_19.8.e272121.6","unstructured":"Neilson D . Susceptibility to Infection-Induced Acute Encephalopathy 3. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle, 2014."},{"key":"2026081004251647000_19.8.e272121.7","doi-asserted-by":"crossref","unstructured":"Gowda VK , Varghese A , Srinivasan VM , et al . Familial recurrent febrile encephalopathy: an atypical presentation of acute necrotising encephalopathy type 1 with unusual neuroimaging findings. BMJ Case Rep 2025;18. doi:10.1136\/bcr-2025-267024","DOI":"10.1136\/bcr-2025-267024"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2026-272121","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T11:25:23Z","timestamp":1786361123000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2026-272121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":7,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2026,8,10]]},"published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1136\/bcr-2026-272121"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2026-272121","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8]]}}}