Wikipedia

Copenhagen disease

Copenhagen disease, sometimes known as Copenhagen syndrome or progressive non-infectious anterior vertebral fusion (PAVF), is a very rare childhood spinal disorder of unknown cause, with distinctive radiological features. It is characterized by the progressive fusion of the anterior vertebral body in the thoracolumbar region of the spine.[1]

Copenhagen disease
Other namesProgressive non-infectious anterior vertebral fusion, Copenhagen syndrome
SpecialtyOrthopedic
CausesUnknown
Diagnostic methodX-ray, MRI

It was first identified in 1949[2] and 80–100 reported cases since, 60% of which were female.[3] Due to the disease's rarity, research into this condition has been limited.[4]

Copenhagen disease is known as such because the majority of cases were found at Copenhagen University Hospital.[5][6]

Pathophysiology

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The initial stages of Copenhagen disease closely resemble Scheuermann's disease, where a disturbance in the zone of growth of the vertebral bodies leads to a wedged-shaped deformation in the spine. However, the deformity in the vertebrae in Copenhagen's disease progresses differently than in Scheuermann's disease.[2] In Copenhagen disease, there is a narrowing of the anterior wall of the intervertebral disc with adjacent end plate erosions. The narrowing progresses until the disc space is eliminated, resulting in bony ankylosis, or stiffness in the joints, and eventually fusion of the anterior vertebral body.[7] In Scheuermann's disease, however, it is very rare for adults to develop ankylosis in their adult life.[1]

Presentation

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Most cases of Copenhagen disease have been reported in Europe only.[8][9]

Copenhagen disease is often an asymptomatic condition, and is more commonly identified as an incidental medical finding. Some cases may present with symptoms including back pain, difficulty walking, stiffness of the neck and back, or kyphosis.[10][11] Complete bony ankylosis occurs as the disease progresses over the years.[9] Multiple congenital spine defects such as osteogenesis imperfecta may accompany Copenhagen disease.[12][13]

Radiological findings may show anterior erosion and irregularity in the vertebral endplates, related to the narrowing of the space between vertebrae in specific areas. This is followed by spinal fusion which is not typically seen in the posterior disc space except in later stages of the disease.[14]

The following signs and symptoms have been reported in the literature:[10][11][9][14]

Common symptoms Less common symptoms

Diagnosis

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MRI (preferentially) and thoracolumbar spinal X-rays are used to confirm a diagnosis of Copenhagen disease, in order to visualize the extent of the intervertebral ankylosis and identify prominent features.[15][16] Radiographs collected soon after birth are used for diagnosis, as early detection leads to improved intervention and management.[5]

CT scans may also be used to visualise the vertebrae, but this technique currently lacks support from the literature. 3D-CT scans can be utilized to clarify the extent of the vertebral malformations and assist in differential diagnosis.[12][13]

Treatment

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Treatment options include spinal bracing, surgical options, and chronic pain management. Regular clinical check-ups and close orthopedic supervision is crucial to avoid sagittal imbalance. Both lordosis and kyphosis should be treated accordingly, most often via surgical correction, physical therapy, and anti-inflammatory medications.[10][17]

Malagelada et al. found that functional scores and symptom presentations did not significantly differ depending on operative or non-operative treatments. However, the treatment selection can affect progression of kyphosis.[18] There is also limited information on effectiveness and types of bracing, and further data is needed regarding clinician guidelines.[17]

Prognosis

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Copenhagen disease by itself, while progressive in nature, is not considered life-limiting or significantly disabling. However, low back pain is fairly common among individuals with this disease, who may also have to live with some form of kyphosis and its associated complications.[5][10] Through adolescence and adulthood, the typical anterior fusion of the thoracolumbar vertebrae progresses until fusion is complete. After this takes place, progression stabilizes and symptoms are gradually reduced.[11] There are few case reports of long-term follow-up with longitudinal imaging.[17]

References

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  1. ^ a b Meurisse F, Irani MJ, Davies RJ (April 2001). "MRI of Copenhagen's disease in an adult". Clinical Radiology. 56 (4): 335–7. doi:10.1053/crad.1999.0176. PMID 11286590.
  2. ^ a b Knutsson F (December 1949). "Fusion of vertebrae following non-infectious disturbance in the zone of growth". Acta Radiologica. 32 (5–6): 404–6, illust. doi:10.3109/00016924909140003. PMID 15402751.
  3. ^ Hughes RJ, Saifuddin A (June 2006). "Progressive non-infectious anterior vertebral fusion (Copenhagen Syndrome) in three children: features on radiographs and MR imaging". Skeletal Radiology. 35 (6): 397–401. doi:10.1007/s00256-005-0033-9. PMID 16328382. S2CID 28254365.
  4. ^ Malagelada, Francesc; Sewell, Mathew D.; Fahmy, Amr; Gibson, Alexander (2015-04-01). "Long-term clinical and radiological outcomes of Copenhagen syndrome with 19 affected levels: a case report". The Spine Journal. 15 (4): e19–e23. doi:10.1016/j.spinee.2014.12.005. ISSN 1529-9430.
  5. ^ a b c Andersen J, Rostgaard-Christensen E (September 1991). "Progressive noninfectious anterior vertebral fusion". The Journal of Bone and Joint Surgery. British Volume. 73 (5): 859–62. doi:10.1302/0301-620X.73B5.1894681. PMID 1894681.
  6. ^ Stoker D (January 2002). "Progressive non-infectious anterior vertebral fusion ('Copenhagen disease')". Clinical Radiology. 57 (1): 76. doi:10.1053/crad.2001.0809. PMID 11858144.
  7. ^ Smith JR, Martin IR, Shaw DG, Robinson RO (1986). "Progressive non-infectious anterior vertebral fusion". Skeletal Radiology. 15 (8): 599–604. doi:10.1007/BF00349851. PMID 3810179. S2CID 6534916.
  8. ^ "Rare Disease Database". NORD (National Organization for Rare Disorders). Archived from the original on 2015-12-09. Retrieved 2020-08-04.
  9. ^ a b c Décarie JC, Babyn PS (1993). "Progressive noninfectious anterior vertebral fusion: MRI findings and association with a lipoma of the filum terminale in a 5-year-old girl". Pediatric Radiology. 23 (1): 12–4. doi:10.1007/BF02020212. PMID 8469583. S2CID 23859746.
  10. ^ a b c d "Orphanet: Progressive non infectious anterior vertebral fusion". www.orpha.net. 2013. Archived from the original on 2022-02-25.
  11. ^ a b c Prati C, Langlais J, Aubry S, Brion BB, Wendling D (June 2017). "Clinical Images: Progressive Noninfectious Anterior Vertebral Fusion (Copenhagen Syndrome) in a 15-Year-Old Boy". Arthritis & Rheumatology. 69 (6): 1324. doi:10.1002/art.40081. PMID 28235247.
  12. ^ a b Al Kaissi A, Chehida FB, Ghachem MB, Grill F, Klaushofer K (December 2006). "Progressive non-infectious anterior vertebral fusion, split cord malformation and situs inversus visceralis". BMC Musculoskeletal Disorders. 7 (1): 94. doi:10.1186/1471-2474-7-94. PMC 1712336. PMID 17147792.
  13. ^ a b Kaissi AA, Chehida FB, Grill F, Ganger R, Kircher SG (April 2018). "Turning the backbone into an ankylosed concrete-like structure: Case report". Medicine. 97 (15): e0278. doi:10.1097/MD.0000000000010278. PMC 5908595. PMID 29642148.
  14. ^ a b Rocha Oliveira PC, de Deus Leopoldino D (December 2010). "Progressive noninfectious anterior vertebral fusion". Pediatric Radiology. 40 (Suppl 1): S169. doi:10.1007/s00247-010-1845-x. PMID 20922366. S2CID 29267901.
  15. ^ Cebulski A, Nectoux E, Bigot J, Cagneaux M, Mézel A, Fron D, et al. (January 2012). "Progressive anterior vertebral fusion: a report of three cases". Diagnostic and Interventional Imaging. 93 (1): 53–6. doi:10.1016/j.diii.2011.11.003. PMID 22277711.
  16. ^ Al Kaissi A, Grill F, Ganger R (2015-09-01). "Progressive non-infectious anterior vertebral fusion in a baby with Saethre-Chotzen-acrocephalosyndactyly type III syndrome". Ortopediâ, Travmatologiâ I Vosstanovitelʹnaâ Hirurgiâ Detskogo Vozrasta. 3 (3): 32–35. doi:10.17816/PTORS3332-35.
  17. ^ a b c Malagelada F, Sewell MD, Fahmy A, Gibson A (April 2015). "Long-term clinical and radiological outcomes of Copenhagen syndrome with 19 affected levels: a case report". The Spine Journal. 15 (4): e19-23. doi:10.1016/j.spinee.2014.12.005. PMID 25485486.
  18. ^ Malagelada F, Butler JS, Rajput L, Iliadis A, Mansouri R, Saifuddin A, Gibson A (March 2016). "Presentation and outcome of patients treated non-operatively or operatively for Copenhagen Disease: a 30-year experience". European Spine Journal. 25 (3): 919–27. doi:10.1007/s00586-015-4324-0. PMID 26582167. S2CID 35094973.
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