{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T14:25:40Z","timestamp":1762784740020,"version":"build-2065373602"},"reference-count":14,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T00:00:00Z","timestamp":1762732800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Korea government","award":["#2020R1C1C1010794"],"award-info":[{"award-number":["#2020R1C1C1010794"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Leigh syndrome is a rare, progressive mitochondrial disorder of childhood. Early diagnosis is often challenging due to nonspecific clinical manifestations. We report a 1-month-old male infant initially referred for suspected congenital muscular torticollis who ultimately received a diagnosis of Leigh syndrome. Despite unremarkable perinatal history, he subsequently developed persistent feeding difficulties, recurrent vomiting, failure to thrive, and global developmental delay. Early neurological assessment revealed poor repertoire patterns on General Movement Assessment. The Neonatal Oral-Motor Assessment Scale (NOMAS) demonstrated dysfunctional oral-motor control, whereas the video fluoroscopic swallowing study (VFSS) revealed aspiration during swallowing. Brain MRI revealed symmetric basal ganglia lesions. Expanded whole-exome sequencing identified a pathogenic MT-ATP6 m.8993T&gt;G variant with high heteroplasmy level (&gt;90% in blood), confirming the diagnosis of Leigh syndrome. The variant was maternally inherited, although neither the mother nor the older sibling exhibited clinical features of mitochondrial disease. Leigh syndrome can initially manifest with subtle systemic features rather than overt neurological features. Persistent feeding difficulties and growth delay in infancy warrant thorough evaluation, including neuroimaging and comprehensive genomic testing, to enable timely diagnosis and optimize clinical management.<\/jats:p>","DOI":"10.3390\/children12111522","type":"journal-article","created":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T13:51:08Z","timestamp":1762782668000},"page":"1522","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["From Congenital Torticollis to Leigh Syndrome: A Case Report of Diagnostic Evolution in an Infant"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2205-3210","authenticated-orcid":false,"given":"Minsoo","family":"Jeon","sequence":"first","affiliation":[{"name":"Department of Rehabilitation Medicine, Deajeon Sejong Chungnam Nexon Sponsored Public Children\u2019s Rehabilitation Hospital, Daejeon 35358, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6831-1556","authenticated-orcid":false,"given":"Shin-seung","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Deajeon Sejong Chungnam Nexon Sponsored Public Children\u2019s Rehabilitation Hospital, Daejeon 35358, Republic of Korea"},{"name":"Department of Rehabilitation Medicine, Chungnam National University Hospital, Chungnam National University College of Medicine, Daejeon 35015, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sera","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Chungnam National University Hospital, Chungnam National University College of Medicine, Daejeon 35015, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9829-8922","authenticated-orcid":false,"given":"Ja Young","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, Chungnam National University Hospital, Chungnam National University College of Medicine, Daejeon 35015, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,11,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e20190582","DOI":"10.1542\/peds.2019-0582","article-title":"Congenital Muscular Torticollis: Bridging the Gap Between Research and Clinical Practice","volume":"144","author":"Sargent","year":"2019","journal-title":"Pediatrics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1159\/000536676","article-title":"Leigh Syndrome due to MT-ATP6 Variants: A Case Presentation and the Review of the Literature","volume":"15","author":"Akar","year":"2024","journal-title":"Mol. Syndromol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.pediatrneurol.2008.07.013","article-title":"Leigh and Leigh-like syndrome in children and adults","volume":"39","author":"Finsterer","year":"2008","journal-title":"Pediatr. Neurol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1002\/jimd.12104","article-title":"Recent advances in understanding the molecular genetic basis of mitochondrial disease","volume":"43","author":"Thompson","year":"2020","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1002\/humu.23723","article-title":"MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases","volume":"40","author":"Ganetzky","year":"2019","journal-title":"Hum. 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Biol., 5.","DOI":"10.1101\/cshperspect.a021220"}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/12\/11\/1522\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T14:23:48Z","timestamp":1762784628000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/12\/11\/1522"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,10]]},"references-count":14,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,11]]}},"alternative-id":["children12111522"],"URL":"https:\/\/doi.org\/10.3390\/children12111522","relation":{},"ISSN":["2227-9067"],"issn-type":[{"value":"2227-9067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,10]]}}}