{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T14:49:36Z","timestamp":1791557376782,"version":"4.3.4"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T00:00:00Z","timestamp":1791504000000},"content-version":"vor","delay-in-days":281,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"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":["Case Reports in Dentistry"],"published-print":{"date-parts":[[2026,1]]},"abstract":"\n Background<\/jats:title>\n \n Pontocerebellar hypoplasia Type 10 (PCH10) is an extremely rare autosomal recessive neurodegenerative disorder caused by biallelic mutations in the\n CLP1<\/jats:italic>\n gene. The disease is characterized by severe developmental delay, progressive microcephaly, epilepsy, spasticity, and craniofacial dysmorphic features. To our knowledge, Riga\u2013Fede disease in a patient with genetically confirmed PCH10 has not been previously reported.\n <\/jats:p>\n <\/jats:sec>\n \n Case Presentation<\/jats:title>\n We report the case of a 21\u2010month\u2010old girl with genetically confirmed PCH10 who presented with severe feeding difficulties and a ventral tongue ulcer caused by repeated trauma from the mandibular central primary incisors. The lesion was diagnosed as Riga\u2013Fede disease. Because of persistent trauma, extraction of the offending teeth was performed under local anesthesia, which resulted in complete healing within follow\u2010up. The patient\u2032s clinical course was further complicated by epilepsy, profound hypotonia, lack of motor control, and recurrent respiratory infections, requiring percutaneous endoscopic gastrostomy (PEG) feeding and intensive care admissions. Family history revealed the death of a sibling with a similar clinical presentation, supporting autosomal recessive inheritance.<\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n This case highlights the multisystemic burden of PCH10 and emphasizes the importance of early recognition and management of oral complications such as Riga\u2013Fede disease. Multidisciplinary care, including neurological, genetic, and dental follow\u2010up, is critical for improving the quality of life in children with rare neurodegenerative disorders.<\/jats:p>\n <\/jats:sec>","DOI":"10.1155\/crid\/9306930","type":"journal-article","created":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T13:56:41Z","timestamp":1791554201000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Rare Case of PCH10 With CLP1 Mutation: Clinical Features and Dental Management of Riga\u2013Fede Lesion in a Pediatric Patient"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-3870-7460","authenticated-orcid":false,"given":"Merve","family":"M\u0131s\u0131r","sequence":"first","affiliation":[{"name":"Department of Pedodontics Faculty of Dentistry Istanbul University Istanbul Turkey istanbul.edu.tr"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1022-2486","authenticated-orcid":false,"given":"Yelda","family":"Kasimoglu","sequence":"additional","affiliation":[{"name":"Department of Pedodontics Faculty of Dentistry Istanbul University Istanbul Turkey istanbul.edu.tr"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2077-5095","authenticated-orcid":false,"given":"Mine","family":"Koruyucu","sequence":"additional","affiliation":[{"name":"Department of Pedodontics Faculty of Dentistry Istanbul University Istanbul Turkey istanbul.edu.tr"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,9]]},"reference":[{"key":"e_1_2_13_1_2","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1016\/j.cell.2014.02.058","article-title":"Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous 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