{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T08:03:55Z","timestamp":1780387435995,"version":"3.54.1"},"reference-count":0,"publisher":"Ideggyogyaszati Szemle Journal","issue":"5-6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"published-print":{"date-parts":[[2026]]},"abstract":"<jats:p>Purpose \u2013 This case report presents a\npatient with recurrent cerebellitis attacks\ncha\u00adracterized by acute cerebellar diffusion\nrestriction due to a PRRT2 gene mutation,\nwho demonstrated complete recovery.\nCase report \u2013 A 21-year-old female patient\nwas admitted to our hospital with imbalance,\nvomiting, dizziness, and speech disorder.\nNeurological examination showed bilateral\nabnormal cerebellar tests. Diffusion restriction was seen in the right cerebellar hemisphere, and hyperintensity was seen in the\nsame regions on the T2-Flair MRI sequence.\nThe viral panel, culture, and biochemistry\nof cerebrospinal fluid (CSF) examinations\nwere all within normal ranges. We diagnosed the patient with acute cerebellitis.\nA three-month corticosteroid treatment\nregimen was initiated after the first episode,\nand subsequent relapses were managed\nsimilarly. The patient\u2019s MRI results and clinical findings both fully improved. However,\ntwo more attacks were documented in the\npatient\u2019s history like the other attacks. The\npatient experienced recurring episodes and\nhas a history of infantile epilepsy. Whole\nexome sequencing revealed compound\nheterozygous pathogenic PRRT2 variants:\nhe\u00adterozygous c.649dupC (p. Arg217Profs*8)\nand a heterozygous 16p11.2 microdeletion\nencompassing PRRT2 gene.\nConclusion \u2013 Biallelic pathogenic PRRT2\nvariants usually cause a severe phenotype\ncompared to monoallelic variants. PRRT2\nshould be considered in cases of episodic movement disorders with reversible cerebellar diffusion restriction, as they may underlie\nrecurring acute cerebellitis episodes. Longterm monitoring may be crucial for management.<\/jats:p>","DOI":"10.18071\/isz.79.0213","type":"journal-article","created":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T07:07:21Z","timestamp":1780384041000},"page":"213-216","source":"Crossref","is-referenced-by-count":0,"title":["A case of PRRT2 mutation with temporary cerebellar diffusion restriction that mimics acute cerebellitis"],"prefix":"10.18071","volume":"79","author":[{"given":"Ruken","family":"Simsekogul","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4172-1299","authenticated-orcid":false,"given":"Elif Yilmaz","family":"Gulec","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asuman Orhan","family":"Varoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-3667-5679","authenticated-orcid":false,"given":"Gizem Aynur","family":"Aktas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4199-442X","authenticated-orcid":false,"given":"Ozge Gonul","family":"Oner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7411","published-online":{"date-parts":[[2026]]},"container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"original-title":[],"link":[{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/a-case-of-prrt2-mutation-with-temporary-cerebellar-diffusion-restriction-that-mimics-acute-cerebellitis\/pdf-open","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T07:07:34Z","timestamp":1780384054000},"score":1,"resource":{"primary":{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/a-case-of-prrt2-mutation-with-temporary-cerebellar-diffusion-restriction-that-mimics-acute-cerebellitis"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":0,"journal-issue":{"issue":"5-6","published-online":{"date-parts":[[2026]]},"published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.18071\/isz.79.0213","relation":{},"ISSN":["0019-1442","2498-6208"],"issn-type":[{"value":"0019-1442","type":"print"},{"value":"2498-6208","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026]]}}}