{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:40:02Z","timestamp":1756323602023,"version":"3.44.0"},"reference-count":13,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,2,20]]},"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:p>KBG syndrome is a rare genetic condition caused by <jats:italic>ANKRD11<\/jats:italic> mutations, often presenting with distinctive syndromic features, including macrodontia and skeletal anomalies. This case highlights a teenage boy with KBG syndrome presenting with tethered cord syndrome (TCS)\u2014a progressive condition where spinal cord fixation restricts movement\u2014causing motor, sensory and urological symptoms.<\/jats:p>\n               <jats:p>The patient presented with leg stiffness, gait changes and bowel and bladder symptoms, initially misdiagnosed as catatonia. Genetic testing confirmed KBG syndrome and further family-led research suggested TCS. Targeted MRI revealed a low-lying conus medullaris and thickened filum terminale, supporting the clinically suspected diagnosis. Surgical detethering led to complete symptom resolution, allowing the patient to resume normal activities.<\/jats:p>\n               <jats:p>This case demonstrates a detailed symptomatic presentation of TCS in KBG syndrome, which underscores the importance of recognising such associations. Clinicians should consider dynamic imaging and early intervention to prevent long-term morbidity in similar patients.<\/jats:p>","DOI":"10.1136\/bcr-2024-264503","type":"journal-article","created":{"date-parts":[[2025,3,5]],"date-time":"2025-03-05T18:40:20Z","timestamp":1741200020000},"page":"e264503","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Tethered cord syndrome in a paediatric patient with KBG syndrome"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-9201-6401","authenticated-orcid":false,"given":"Julian","family":"Severin","sequence":"first","affiliation":[{"name":"Radiology, Princess Alexandra Hospital, Woolloongabba, Queensland, Australia"},{"name":"Griffith University, Gold Coast, Queensland, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Kim","sequence":"additional","affiliation":[{"name":"Radiology, Princess Alexandra Hospital, Woolloongabba, Queensland, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Campbell","sequence":"additional","affiliation":[{"name":"Neurosurgery, Queensland Childrens Hospital, Brisbane, Queensland, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,3,5]]},"reference":[{"key":"2025082712110633000_18.3.e264503.1","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1186\/s13023-017-0736-8","article-title":"KBG syndrome","volume":"12","author":"Morel Swols","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"2025082712110633000_18.3.e264503.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2014.11.031"},{"key":"2025082712110633000_18.3.e264503.3","doi-asserted-by":"crossref","first-page":"2847","DOI":"10.1002\/ajmg.a.37878","article-title":"Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11","volume":"170","author":"Goldenberg","year":"2016","journal-title":"Am J Med Genet A"},{"key":"2025082712110633000_18.3.e264503.4","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-014-1509-2"},{"key":"2025082712110633000_18.3.e264503.5","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1002\/ajmg.a.63128","article-title":"Tethered cord syndrome in KBG syndrome","volume":"191","author":"Hills","year":"2023","journal-title":"Am J Med Genet A"},{"key":"2025082712110633000_18.3.e264503.6","doi-asserted-by":"publisher","DOI":"10.1097\/00002517-200008000-00008"},{"key":"2025082712110633000_18.3.e264503.7","first-page":"302","article-title":"Occult tethered cord syndrome: the case for surgery","volume":"104","author":"Selden","year":"2006","journal-title":"Journal of Neurosurgery: Pediatrics"},{"key":"2025082712110633000_18.3.e264503.8","doi-asserted-by":"publisher","DOI":"10.1159\/000098836"},{"key":"2025082712110633000_18.3.e264503.9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3171\/2010.3.FOCUS1079","article-title":"Tethered cord syndrome: a review of the literature from embryology to adult presentation","volume":"29","author":"Hertzler","year":"2010","journal-title":"Neurosurg Focus"},{"key":"2025082712110633000_18.3.e264503.10","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1080\/15513815.2023.2172632","article-title":"Fetal Tethered Spinal Cord: Diagnostic Features and Its Association with Congenital Anomalies","volume":"42","author":"Yang","year":"2023","journal-title":"Fetal Pediatr Pathol"},{"key":"2025082712110633000_18.3.e264503.11","doi-asserted-by":"crossref","first-page":"e492","DOI":"10.1016\/j.wneu.2022.03.038","article-title":"Diseased Filum Terminale as a Cause of Tethered Cord Syndrome in Ehlers-Danlos Syndrome: Histopathology, Biomechanics, Clinical Presentation, and Outcome of Filum Excision","volume":"162","author":"Klinge","year":"2022","journal-title":"World Neurosurg"},{"key":"2025082712110633000_18.3.e264503.12","doi-asserted-by":"crossref","unstructured":"Advances and Technical Standards in Neurosurgery. Adv Tech Stand Neurosurg 2009. doi:10.1007\/978-3-211-78741-0","DOI":"10.1007\/978-3-211-78741-0"},{"key":"2025082712110633000_18.3.e264503.13","doi-asserted-by":"crossref","first-page":"758","DOI":"10.3171\/2024.1.SPINE231191","article-title":"Clinical criteria for filum terminale resection in occult tethered cord syndrome","volume":"40","author":"Klinge","year":"2024","journal-title":"J Neurosurg Spine"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-264503","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:11:16Z","timestamp":1756321876000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-264503"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3]]},"references-count":13,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025,3,5]]},"published-print":{"date-parts":[[2025,3]]}},"alternative-id":["10.1136\/bcr-2024-264503"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-264503","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,3]]}}}