{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T03:51:30Z","timestamp":1791604290798,"version":"4.3.4"},"reference-count":7,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T00:00:00Z","timestamp":1773187200000},"content-version":"vor","delay-in-days":69,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We report a case in which a girl diagnosed with\n                    <jats:italic>HNRNPU<\/jats:italic>\n                    \u2010associated neurodevelopmental disorder presented with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) and generalized hypotonia accompanied by chorea\u2010like involuntary movements. On the first day of hospitalization, she presented with fever and generalized clonic seizures. Twenty four hours later, she continued to experience impaired consciousness and generalized hypotonia. Her consciousness improved gradually, but chorea\u2010like involuntary movements of the limbs were observed. From the seventh day of hospitalization, the patient repeatedly experienced difficulty in making eye contact for 20\u201330\u2009s for 2\u20133\u2009days. Brain MRI with diffusion\u2010weighted imaging revealed hyperintensity from the bilateral frontal cortex to subcortical white matter and the bilateral caudate nuclei. This patient presented with chorea\u2010like involuntary movements and generalized hypotonia, and was unable to perform antigravity movements.\n                    <jats:italic>HNRNPU<\/jats:italic>\n                    \u2010related neurodevelopmental disorders often present with congenital hypotonia. When affected children develop acute encephalopathy associated with basal ganglia lesions, the synergistic effect of these conditions may exacerbate the hypotonia.\n                  <\/jats:p>","DOI":"10.1002\/cga.70048","type":"journal-article","created":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T12:06:18Z","timestamp":1773230778000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case of\n                    <scp>HNRNPU<\/scp>\n                    \u2010Related Neurodevelopmental Disorder Presenting With Acute Encephalopathy and Basal Ganglia Lesions"],"prefix":"10.1002","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6938-3121","authenticated-orcid":false,"given":"Syunsuke","family":"Nagara","sequence":"first","affiliation":[{"name":"Department of Pediatrics Japanese Red Cross Takayama Hospital  Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiro","family":"Shinoda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Japanese Red Cross Takayama Hospital  Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shungo","family":"Fujiki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Japanese Red Cross Takayama Hospital  Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emi","family":"Tannaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Japanese Red Cross Takayama Hospital  Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinji","family":"Usui","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Japanese Red Cross Takayama Hospital  Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miwa","family":"Kawashiri","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Japanese Red Cross Takayama Hospital  Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Imamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gifu Prefectural General Medical Center  Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Yamagishi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Japanese Red Cross Takayama Hospital  Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.70006"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2018.05.010"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.16067"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2025.104413"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.5692\/clinicalneurol.49.325"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.14802\/jmd.16062"},{"key":"e_1_2_8_8_1","volume-title":"StatPearls","author":"Abood W.","year":"2024"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cga.70048","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/cga.70048","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/cga.70048","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T03:07:38Z","timestamp":1791601658000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/cga.70048"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1002\/cga.70048"],"URL":"https:\/\/doi.org\/10.1002\/cga.70048","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-10-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70048"}}