Copenhagen disease

Last updated
Copenhagen disease
Other namesProgressive non-infectious anterior vertebral fusion, Copenhagen syndrome
Specialty Orthopedic
CausesUnknown
Diagnostic method X-ray, MRI

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]

Contents

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

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

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 symptomsLess common symptoms

Diagnosis

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

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

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]

Related Research Articles

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<span class="mw-page-title-main">Back pain</span> Area of body discomfort

Back pain is pain felt in the back. It may be classified as neck pain (cervical), middle back pain (thoracic), lower back pain (lumbar) or coccydynia based on the segment affected. The lumbar area is the most common area affected. An episode of back pain may be acute, subacute or chronic depending on the duration. The pain may be characterized as a dull ache, shooting or piercing pain or a burning sensation. Discomfort can radiate to the arms and hands as well as the legs or feet, and may include numbness or weakness in the legs and arms.

<span class="mw-page-title-main">Pott's disease</span> Medical condition

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<span class="mw-page-title-main">Kyphosis</span> Medical condition

Kyphosis is an abnormally excessive convex curvature of the spine as it occurs in the thoracic and sacral regions. Abnormal inward concave lordotic curving of the cervical and lumbar regions of the spine is called lordosis. It can result from degenerative disc disease; developmental abnormalities, most commonly Scheuermann's disease; Copenhagen disease, osteoporosis with compression fractures of the vertebra; multiple myeloma; or trauma. A normal thoracic spine extends from the 1st thoracic to the 12th thoracic vertebra and should have a slight kyphotic angle, ranging from 20° to 45°. When the "roundness" of the upper spine increases past 45° it is called kyphosis or "hyperkyphosis". Scheuermann's kyphosis is the most classic form of hyperkyphosis and is the result of wedged vertebrae that develop during adolescence. The cause is not currently known and the condition appears to be multifactorial and is seen more frequently in males than females.

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<span class="mw-page-title-main">Degenerative disc disease</span> Medical condition

Degenerative disc disease (DDD) is a medical condition typically brought on by the normal aging process in which there are anatomic changes and possibly a loss of function of one or more intervertebral discs of the spine. DDD can take place with or without symptoms, but is typically identified once symptoms arise. The root cause is thought to be loss of soluble proteins within the fluid contained in the disc with resultant reduction of the oncotic pressure, which in turn causes loss of fluid volume. Normal downward forces cause the affected disc to lose height, and the distance between vertebrae is reduced. The anulus fibrosus, the tough outer layers of a disc, also weakens. This loss of height causes laxity of the longitudinal ligaments, which may allow anterior, posterior, or lateral shifting of the vertebral bodies, causing facet joint malalignment and arthritis; scoliosis; cervical hyperlordosis; thoracic hyperkyphosis; lumbar hyperlordosis; narrowing of the space available for the spinal tract within the vertebra ; or narrowing of the space through which a spinal nerve exits with resultant inflammation and impingement of a spinal nerve, causing a radiculopathy.

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<span class="mw-page-title-main">Spinal fusion</span> Immobilization or ankylosis of two or more vertebrae by fusion of the vertebral bodies

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<span class="mw-page-title-main">Kyphoscoliosis</span> Medical condition

Kyphoscoliosis describes an abnormal curvature of the spine in both the coronal and sagittal planes. It is a combination of kyphosis and scoliosis. This musculoskeletal disorder often leads to other issues in patients, such as under-ventilation of lungs, pulmonary hypertension, difficulty in performing day-to-day activities, psychological issues emanating from anxiety about acceptance among peers, especially in young patients. It can also be seen in syringomyelia, Friedreich's ataxia, spina bifida, kyphoscoliotic Ehlers–Danlos syndrome (kEDS), and Duchenne muscular dystrophy due to asymmetric weakening of the paraspinal muscles.

<span class="mw-page-title-main">Scheuermann's disease</span> Medical condition

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<span class="mw-page-title-main">Gibbus deformity</span>

Gibbus deformity is a form of structural kyphosis typically found in the upper lumbar and lower thoracic vertebrae, where one or more adjacent vertebrae become wedged. Gibbus deformity most often develops in young children as a result of spinal tuberculosis and is the result of collapse of vertebral bodies. This can in turn lead to spinal cord compression causing paraplegia.

<span class="mw-page-title-main">Spinal fracture</span> Medical condition

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<span class="mw-page-title-main">Vertebral column</span> Bony structure found in vertebrates

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References

  1. 1 2 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. 1 2 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. 1 2 3 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. 1 2 3 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. 1 2 3 4 "Orphanet: Progressive non infectious anterior vertebral fusion". www.orpha.net. 2013. Archived from the original on 2022-02-25.
  11. 1 2 3 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. 1 2 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. 1 2 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. 1 2 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. 1 2 3 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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