Klippel-Feil Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q76.1 | Klippel-Feil Syndrome |
| ICD-10 online (WHO version 2019) | |
The Klippel-Feil syndrome (also called congenital cervical synostosis) is a rare, congenital syndrome from a malformation of the cervical spine and possible other malformations. It is named after Maurice Klippel (French neurologist and psychiatrist, 1858–1942) and André Feil (French neurologist, * 1884).
In the Klippel-Feil syndrome, two or more cervical vertebrae merge ( synostosis ) , and sometimes the entire cervical spine (Cervical spine). This is due to a disturbance in the segmentation of the cervical somites during the 3rd to 8th week of embryonic development . The etiology is not clear.
Because of X-rays is believed that Tutankhamun was affected by this syndrome.
Clinical picture
A deep hairline on the nape of the neck, a short, wing-like neckline or a short neck, as well as restricted movement of the cervical spine are typical clinical signs of the disease, but are found in less than half of those affected. The range of mobility often remains surprisingly large.
Malformations of the spine
Malformations in the lower head joint (atlantoaxial joint) usually cause discomfort, blockages of the more caudal vertebrae are often symptom-free. Complaints mostly come from the neighboring, unblocked parts of the spine, as these often show increased mobility ( hypermobility ) to compensate for the lack of mobility of the fused vertebrae . With increased stress or trauma, this hypermobility can lead to instability or to spondylosis and spondylarthrosis .
In the case of a blockage of more than four vertebrae, an atlas assimilation (adhesion of the occipital bone , os occipitale , with the first cervical vertebra , atlas ) in combination with a blockage of the second ( axis ) and third cervical vertebrae or a free mobility of a vertebral joint , step between two blocked segments often complaints that are caused by mechanical irritation of the unaffected vertebral joints, irritation of the nerve roots or compression of the spinal cord .
Symptoms often only appear in adulthood.
Concomitant malformations
In about 60 percent of the cases there are other malformations of the spine, mostly scoliosis and kyphosis . The syndrome can also appear in several sections of the spine at the same time (see X-ray image). One third of patients have urinary tract malformations . In 20 to 30 percent of cases, the shoulder blade is raised on one or both sides ( Sprengel deformity ). About 14 percent of patients have congenital heart defects .
In about a third of the cases there is a combination with profound sensorineural hearing loss or even deafness. Occasionally, bilateral and unilateral conductive hearing loss due to middle ear malformations are also described.
Investigation methods
In the diagnosis of Klippel-Feil syndrome, standardized x-rays of the cervical spine are often not possible because the patient cannot adopt the intended standard position due to the malformation. The lower jaw , occiput and foramen magnum can project onto the cervical vertebrae . Lateral radiographs in flexion ( flexion ) and stretching ( extension ) can - especially in children, in which the epiphyseal plates are not yet closed - be helpful. Cross-sectional imaging such as magnetic resonance imaging (should be preferred especially in childhood due to the lack of radiation exposure) and computed tomography are particularly suitable for assessing whether there is compression of the nerve root or spinal cord .
Routine ultrasound of the urinary organs or pyelography are recommended, as serious malformations of the urinary tract often do not initially cause any symptoms.
Radiological differential diagnosis
The wear- related osteochondrosis of the spine also causes a narrowing of the intervertebral spaces. The figure below shows the differences: The osteochondrosis between cervical vertebrae V and VI has exophytes protruding above the affected vertebra . On the other hand, such bulges cannot be seen between vertebrae VI and VII. The connection between the vertebral bodies visible there is due to the nature of the structure and has nothing to do with wear and tear. The spine tends to be even narrower there (clearly visible in the image of the cervical spine in the picture above).
Treatment and outlook
A therapy is often not necessary with low expression of malformations and affected children can lead a normal life. If symptoms arise in adulthood, conservative measures are often sufficient. A scoliosis may be in need of treatment.
The changes in the cervical spine have a good prognosis for life expectancy. Unrecognized accompanying malformations can, however, lead to considerable complications .
See also
literature
- Mahmoud G. Nagib, Robert E. Maxwell, Shelley Chou: Identification and management of high-risk patients with Klippel-Feil syndrome . Journal of Neurosurgery 61: 523-530 (1984).
- Klippel-Feil Syndrome. In: Netters general medicine. Edited by Thomas Böttcher and Martin Kortenhaus. Stuttgart 2006 ISBN 3-13-135881-5 p. 840
Individual evidence
- ↑ Klippel-Feil deformity at whonamedit.com
- ↑ a b Klippel-Feil syndrome. In: Netters general medicine. Edited by Thomas Böttcher and Martin Kortenhaus. Stuttgart 2006 ISBN 3-13-135881-5 p. 840
- ↑ J. Oeken, Elke König, Sabrina Kösling and E. Meister. Middle ear malformations in Klippel-Feil syndrome. ENT 44 (9). doi: 10.1007 / s001060050048
