{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T10:44:36Z","timestamp":1764585876232,"version":"3.46.0"},"reference-count":56,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,10,18]]},"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:p>Alkaptonuria (AKU) is an ultra-rare autosomal recessive disorder caused by homogentisic acid (HGA) accumulation, leading to ochronosis and progressive joint and spinal degeneration. Misdiagnosis as ankylosing spondylitis (AS) is possible due to overlapping spinal features.<\/jats:p>\n                  <jats:p>We present a man in his late 40s with ochronotic arthropathy, initially diagnosed as AS. Diagnosis was confirmed by elevated urinary HGA. Over 7 years, he underwent bilateral total shoulder, hip and knee arthroplasties, and long-segment cervicosacral fusion with pedicle subtraction osteotomy. Histopathology confirmed ochronotic cartilage changes. Surgical challenges included non-union, fascial dehiscence and tissue fragility. Cardiovascular evaluation revealed aortic valve stenosis and mitral insufficiency, reflecting systemic disease burden.<\/jats:p>\n                  <jats:p>The patient\u2019s spinal interventions preceded regulatory approval of nitisinone for AKU in the European Union, a disease-modifying therapy with potential to modify disease progression. This case underscores the importance of distinguishing AKU from inflammatory spondyloarthropathy and highlights the need for early diagnosis and interdisciplinary care.<\/jats:p>","DOI":"10.1136\/bcr-2025-268131","type":"journal-article","created":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T04:10:18Z","timestamp":1762402218000},"page":"e268131","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Cervicosacral stabilisation in alkaptonuria: seven-year surgical management of multisystem ochronosis including joint arthroplasties"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5235-9918","authenticated-orcid":false,"given":"Rechilda Rhea","family":"Reyes","sequence":"first","affiliation":[{"name":"Department of Orthopaedics, Spine and Trauma Surgery, Medical Park Bad Rodach, Bad Rodach, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes J\u00fcrgen","family":"Mees","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Spine and Trauma Surgery, Medical Park Bad Rodach, Bad Rodach, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas Erwin","family":"Funk","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Spine and Trauma Surgery, Medical Park Bad Rodach, Bad Rodach, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Tauber","sequence":"additional","affiliation":[{"name":"German Shoulder Centre Munich, Munich, Germany"},{"name":"Department of Orthopaedics and Traumatology, Paracelsus Medical University Hospital Salzburg, Salzburg, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Weber","sequence":"additional","affiliation":[{"name":"Endoprosthetics Centre of Dr. Lubos Kliniken - Bogenhausen, Munich, Germany"},{"name":"ECOM \u2013 Excellence Centre of Medicine, Munich, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heiko","family":"Koller","sequence":"additional","affiliation":[{"name":"International Centre for Spinal Disorders and Deformities, Asklepios Klinikum Bad Abbach, Bad Abbach, Germany"},{"name":"Department of Neurosurgery, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,11,5]]},"reference":[{"key":"2025120102404023000_18.11.e268131.1","doi-asserted-by":"crossref","first-page":"37","DOI":"10.2147\/TACG.S186773","article-title":"Alkaptonuria: Current Perspectives","volume":"13","author":"Zatkova","year":"2020","journal-title":"Appl Clin Genet"},{"key":"2025120102404023000_18.11.e268131.2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa021736"},{"key":"2025120102404023000_18.11.e268131.3","article-title":"Fatal acute haemolysis and methaemoglobinaemia in a man with renal failure and Alkaptonuria - 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Alkaptonurie selbsthilfegruppe. Available: https:\/\/dsaku.de [Accessed 25 Apr 2025]."},{"key":"2025120102404023000_18.11.e268131.47","doi-asserted-by":"crossref","DOI":"10.3390\/nu16162722","article-title":"Anthropometric, Body Composition, and Nutritional Indicators with and without Nutritional Intervention during Nitisinone Therapy in Alkaptonuria","volume":"16","author":"Ranganath","year":"2024","journal-title":"Nutrients"},{"key":"2025120102404023000_18.11.e268131.48","doi-asserted-by":"crossref","first-page":"569","DOI":"10.3390\/clinpract13030052","article-title":"Fast Track Protocols and Early Rehabilitation after Surgery in Total Hip Arthroplasty: A Narrative Review","volume":"13","author":"Di Martino","year":"2023","journal-title":"Clin Pract"},{"key":"2025120102404023000_18.11.e268131.49","doi-asserted-by":"publisher","DOI":"10.1093\/bja\/78.5.606"},{"key":"2025120102404023000_18.11.e268131.50","doi-asserted-by":"crossref","first-page":"427","DOI":"10.22603\/ssrr.2023-0193","article-title":"Adoption of an Enhanced Recovery after Surgery Protocol for Neuromuscular Scoliosis Shortens Length of Hospital Stay","volume":"8","author":"Nakamura","year":"2024","journal-title":"Spine Surg Relat Res"},{"key":"2025120102404023000_18.11.e268131.51","doi-asserted-by":"crossref","first-page":"3323","DOI":"10.1007\/s00402-024-05479-z","article-title":"Favourable mid-term isokinetic strength after primary THA combined with a modified enhanced recovery after surgery concept (ERAS) in a single blinded randomized controlled trial","volume":"144","author":"Reinhard","year":"2024","journal-title":"Arch Orthop Trauma Surg"},{"key":"2025120102404023000_18.11.e268131.52","doi-asserted-by":"crossref","DOI":"10.1186\/s40634-023-00604-0","article-title":"Isokinetic knee muscle strength comparison after enhanced recovery after surgery (ERAS) versus conventional setup in total knee arthroplasty (TKA): a single blinded prospective randomized study","volume":"10","author":"Goetz","year":"2023","journal-title":"J Exp Orthop"},{"key":"2025120102404023000_18.11.e268131.53","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1007\/s00103-017-2516-y","article-title":"Medizinische Rehabilitation im europ\u00e4ischen Vergleich und Auswirkungen des europ\u00e4ischen Rechts auf die deutsche Rehabilitation","volume":"60","author":"Mittag","year":"2017","journal-title":"Bundesgesundheitsbl"},{"key":"2025120102404023000_18.11.e268131.54","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2017-016020","article-title":"Effectiveness of rehabilitation after a total hip arthroplasty: a protocol for an observational study for the comparison of usual care in the Netherlands versus Germany","volume":"7","author":"Seeber","year":"2017","journal-title":"BMJ Open"},{"key":"2025120102404023000_18.11.e268131.55","doi-asserted-by":"crossref","unstructured":"Hughes JH , Charlesworth G , Prior A , et al . An anatomical investigation of alkaptonuria: novel insights into ochronosis of cartilage and bone. 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