Klippel-Feil Syndrome (C2-3 Fusion)

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Case
A 39 year old male ex-professional player presented with a three month history of neck pain and stiffness. There was no clear trauma or other precipitant. The pain was relatively modest but was not improving and was “irritating”. He did not have any history of significant prior neck symptoms. During a 15 year professional career he had experienced some occasional, mild neck stiffness but nothing that required any formal assessment or treatment. He was otherwise well with no other ongoing medical or musculoskeletal problems. He had not tried any specific treatment.
On examination there was a global mild restriction in cervical movements. There was no significant tenderness or muscle spasm. He did not have any focal neurological signs. There were no cardiovascular, gastrointestinal or other signs.

Findings
The C2 and C3 vertebral body and posterior elements are fused. There is no fracture, other acute bony abnormality or prevertebral soft tissue swelling. The cervical alignment is normal with no radiological evidence of instability. There is mild multilevel cervical disc space narrowing, most marked at C5-6.

Discussion
This player’s x-ray results were discussed. In particular it was discussed that the player should avoid contact sport and activities that might increase the risk of subsequent neck injuries. An MRI scan has been arranged to look for evidence of spinal stenosis. Assuming that this is largely normal no other specific investigations are planned. The player’s neck stiffness has been managed with some oral NSAID, manual therapy and with strengthening exercises addressing scapular stability and posture.

Klippel-Feil syndrome is defined as congenital fusion of two or more cervical vertebrae. People with this syndrome who also have cervical stenosis may be at increased risk for spinal cord injury after minor trauma as a result of hypermobility. A classic clinical triad (short neck, low hair line, and restricted neck motion) is reported in the literature but in reality is present in less than 50% of patients with this syndrome.

In the majority of cases this condition does not require surgery and treatment is dictated by the player’s symptoms. Patients with a one level fusion below the C3 level can generally play sport, including contact sports, such as football, ice-hockey hockey and rugby, after a discussion about the pros and cons of continued participation. In patients like this, where the fusion is above the C3 level and especial when the fusion involves the occiput, players should be advised to avoid contact sports. This is both because they are more likely to be symptomatic and are more prone to sustaining a catastrophic spinal injury. Players with fusions involving more than one level should also be advised to avoid contact sport.

Finally it is also important to recognise that some patients with Klippel-Feil abnormalities also have other organ systems that are involved. Cardiac, renal, or gastrointestinal abnormalities can also occur and clinicians should consider investigating these systems.

Important notice
FIFA does not bear any responsibility for the accuracy and completeness of any information provided in the “Radiology Review” features and cannot be held liable with regard to the information provided or any acts or omissions occurring on the basis of this information.

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Bangoura
Bangoura
16 November 2020 12:31

C EST UNE PATHOLOGIE D ORIGINE INCONNUE ET RARE CARACTERISEE PAR UN COU COURT ASSOCIEE SOIT A UNE CERVICALGIE ET PAR DES RAIDEURS MUSCULO CERVICALES.
LA RADIOGRAPHIE S AVERE UN PREMIER OUTL RENFORCE PAR L IRM ET LE SCANER POUR UN DIAGNOSTIC PRECIS.
LE TRAITEMENT MEDICAL CONSISTE A DONNER DES AINS DES ANTALGIQUES DES INFILTRATIONS LOCALES LA PHYSIOTHERAPIE.
LA CHIRURGIE PEUT ETE NECESDZIRE EN CAS DE RISQUE DE LESION DE LA MOELLE EPINIERE.