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

<span class="mw-page-title-main">Scoliosis</span> Irregular curvature of the spine

Scoliosis is a condition in which a person's spine has an irregular curve. The curve is usually S- or C-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not typically cause problems, but more severe cases can affect breathing and movement. Pain is usually present in adults, and can worsen with age. As the condition progresses, it may alter a person's life, and hence can also be considered a disability.

<span class="mw-page-title-main">Pott's disease</span> Tuberculosis of the spine

Pott's disease, or Pott disease, named for British surgeon Percivall Pott who first described the symptoms in 1799, is tuberculosis of the spine, usually due to haematogenous spread from other sites, often the lungs. The lower thoracic and upper lumbar vertebrae areas of the spine are most often affected.

<span class="mw-page-title-main">Kyphosis</span> Excessive convex curvature of the lower and middle spine

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.

<span class="mw-page-title-main">Spondylosis</span> Degeneration of the vertebral column

Spondylosis is the degeneration of the vertebral column from any cause. In the more narrow sense it refers to spinal osteoarthritis, the age-related degeneration of the spinal column, which is the most common cause of spondylosis. The degenerative process in osteoarthritis chiefly affects the vertebral bodies, the neural foramina and the facet joints. If severe, it may cause pressure on the spinal cord or nerve roots with subsequent sensory or motor disturbances, such as pain, paresthesia, imbalance, and muscle weakness in the limbs.

<span class="mw-page-title-main">Degenerative disc disease</span> Loss of function in the spines intervertebral discs

Degenerative disc disease (DDD) is a medical condition typically brought on by the 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.

<span class="mw-page-title-main">Klippel–Feil syndrome</span> Congenital condition characterised by fusion of two or more vertebrae in the neck

Klippel–Feil syndrome (KFS), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck. It can result in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline. Most people only have one or two of those symptoms so it may not be noticeable without medical imaging.

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

Spinal fusion, also called spondylodesis or spondylosyndesis, is a surgery performed by orthopaedic surgeons or neurosurgeons that joins two or more vertebrae. This procedure can be performed at any level in the spine and prevents any movement between the fused vertebrae. There are many types of spinal fusion and each technique involves using bone grafting—either from the patient (autograft), donor (allograft), or artificial bone substitutes—to help the bones heal together. Additional hardware is often used to hold the bones in place while the graft fuses the two vertebrae together. The placement of hardware can be guided by fluoroscopy, navigation systems, or robotics.

<span class="mw-page-title-main">Anterior longitudinal ligament</span> Ligament running down the front of the vertebral column

The anterior longitudinal ligament is a ligament that extends across the anterior/ventral aspect of the vertebral bodies and intervertebral discs the spine.

A burst fracture is a type of traumatic spinal injury in which a vertebra breaks from a high-energy axial load, with shards of vertebra penetrating surrounding tissues and sometimes the spinal canal. The burst fracture is categorized by the "severity of the deformity, the severity of (spinal) canal compromise, the degree of loss of vertebral body height, and the degree of neurologic deficit." Burst fractures are considered more severe than compression fractures because long-term neurological damage can follow. The neurologic deficits can reach their full extent immediately, or can progress for a prolonged time.

Congenital vertebral anomalies are a collection of malformations of the spine. Most, around 85%, are not clinically significant, but they can cause compression of the spinal cord by deforming the vertebral canal or causing instability. This condition occurs in the womb. Congenital vertebral anomalies include alterations of the shape and number of vertebrae.

<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> Childhood skeletal disorder

Scheuermann's disease is a self-limiting skeletal disorder of childhood. Scheuermann's disease describes a condition where the vertebrae grow unevenly with respect to the sagittal plane; that is, the posterior angle is often greater than the anterior. This uneven growth results in the signature "wedging" shape of the vertebrae, causing kyphosis. It is named after Danish surgeon Holger Scheuermann.

<span class="mw-page-title-main">Anterior cervical discectomy and fusion</span> Surgical procedure

Anterior cervical discectomy and fusion (ACDF) is a surgical procedure to treat nerve root or spinal cord compression by decompressing the spinal cord and nerve roots of the cervical spine with a discectomy, followed by inter-vertebral fusion to stabilize the corresponding vertebrae. This procedure is used when other non-surgical treatments have failed.

<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

A spinal fracture, also called a vertebral fracture or a broken back, is a fracture affecting the vertebrae of the spinal column. Most types of spinal fracture confer a significant risk of spinal cord injury. After the immediate trauma, there is a risk of spinal cord injury if the fracture is unstable, that is, likely to change alignment without internal or external fixation.

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

The vertebral column, also known as the spinal column, spine or backbone, is the core part of the axial skeleton in vertebrate animals. The vertebral column is the defining and eponymous characteristic of the vertebrate endoskeleton, where the notochord found in all chordates has been replaced by a segmented series of mineralized irregular bones called vertebrae, separated by fibrocartilaginous intervertebral discs. The dorsal portion of the vertebral column houses the spinal canal, an elongated cavity formed by alignment of the vertebral neural arches that encloses and protects the spinal cord, with spinal nerves exiting via the intervertebral foramina to innervate each body segments.

Vertebral osteomyelitis is a type of osteomyelitis that affects the vertebrae. It is a rare bone infection concentrated in the vertebral column. Cases of vertebral osteomyelitis are so rare that they constitute only 2%-4% of all bone infections. The infection can be classified as acute or chronic depending on the severity of the onset of the case, where acute patients often experience better outcomes than those living with the chronic symptoms that are characteristic of the disease. Although vertebral osteomyelitis is found in patients across a wide range of ages, the infection is commonly reported in young children and older adults. Vertebral osteomyelitis often attacks two vertebrae and the corresponding intervertebral disk, causing narrowing of the disc space between the vertebrae. The prognosis for the disease is dependent on where the infection is concentrated in the spine, the time between initial onset and treatment, and what approach is used to treat the disease.

The ventral slot technique is a procedure that allows the surgeon to reach and decompress the spinal cord and associated nerve roots from a ventral route in veterinary medicine. There are also alternative ways to open the spinal canal from dorsal by performing a hemilaminectomy, but this often gives only limited access. Even when the main pathological changes evolve from the midline, it is necessary to choose a ventral approach.

<span class="mw-page-title-main">Vertebra</span> Bone in the vertebral column

Each vertebra is an irregular bone with a complex structure composed of bone and some hyaline cartilage, that make up the vertebral column or spine, of vertebrates. The proportions of the vertebrae differ according to their spinal segment and the particular species.

<span class="mw-page-title-main">Iliocostal friction syndrome</span> Medical condition

Iliocostal friction syndrome, also known as costoiliac impingement syndrome, is a condition in which the costal margin comes in contact with the iliac crest. The condition presents as low back pain which may radiate to other surrounding areas as a result of irritated nerve, tendon, and muscle structures. It may occur unilaterally due to conditions such as scoliosis, or bilaterally due to conditions such as osteoporosis and hyperkyphosis.

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.
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.