Klippel–Feil syndrome

The Klippel -Feil syndrome (also called congenital Halswirbelsynostose ) is a rare, congenital syndrome of a malformation of the cervical spine and of other malformations. It is named after Maurice Klippel ( French neurologist and psychiatrist, 1858-1942 ) and André Feil ( French neurologist, * 1884).

In Klippel -Feil syndrome it comes to fusion ( synostosis ) of two or more cervical vertebrae, and occasionally the entire cervical spine ( cervical spine ). It is based on a failure of segmentation of cervical somites during approximately the 3rd to 8th week of embryonic development. The etiology is not clear.

Because of X-ray examinations is believed that Tutankhamun was affected by this syndrome.

Clinical picture

A low hairline in the neck, a short neck and the restriction of movement of the cervical spine are considered typical clinical signs of the disease, but are found in fewer than half of those affected. The extent of mobility is often surprisingly large.

Malformations of the cervical spine

Malformations in the lower atlantoaxial joint ( ) cause most problems, blockages of the more caudal cervical vertebrae are often asymptomatic. Complaints usually go out of the adjacent non - splinted, parts of the cervical spine, as these often to compensate for the lack of mobility of the cervical vertebrae fused an increased mobility ( hypermobility ) have. This hypermobility may in increased stress or trauma lead to instability or spondylosis and spondylarthritis.

In a blockage of more than four vertebrae, a atlas assimilation ( intergrowth of the occipital bone, occipital bone, with the first cervical vertebrae, the atlas ) occur in combination with a blocking of the second (Axis ) and third cervical vertebra or a free mobility of a vertebral joint between two interlocked segments often complaints that are caused by mechanical irritation of the non- affected vertebral joints, irritation of the nerve root or spinal cord compression.

Symptoms often first appear in adulthood.

Accompanying malformations

In about 60 percent of cases are more malformations of the spine, scoliosis and kyphosis usually. The syndrome may be linked to several sections of the spine occur simultaneously (see X-ray). One third of patients have abnormalities of the urinary tract. In 20 to 30 percent of cases one finds a one-or two-sided high position of the scapula ( Sprengel deformity ). About 14 percent of patients have congenital heart defects.

In about one third of the cases there is a combination of high grade sensorineural hearing loss to deafness. Occasionally, however, both or unilateral conductive hearing loss are described on the basis of middle ear malformations.

Methods of investigation

In the diagnosis of Klippel -Feil syndrome standardized radiographs of the cervical spine are often not possible because the proposed standard position by the patient due to the malformation can not be taken. Mandible, occiput and foramen magnum can be projected to the cervical vertebrae. Lateral radiographs in flexion (flexion ) and extension (extension) can - especially in children, in which the epiphyses are not closed yet - be helpful. Section 's imaging such as magnetic resonance imaging ( should be preferred due to lack of radiation exposure, especially in childhood ) and computer tomography are particularly suitable for assessing whether compression of nerve root or spinal cord is present.

Routine ultrasonography of the urinary organs or Pyelografie are recommended as well as severe malformations of the urinary tract often cause no symptoms at first.

Treatment and prospects

Treatment is with low expression of malformations often not necessary and affected children can lead fairly normal lives. If you experience discomfort in adulthood, often ranging from conservative measures. Scoliosis may be in need of treatment.

The changes in the cervical spine have a good prognosis regarding life expectancy. Unrecognized associated malformations, however, can lead to significant complications.

Swell

• Klippel -Feil syndrome. In: Netter general medicine. Ed by Thomas Hooper and Martin Korte house. Stuttgart 2006 ISBN 3-13-135881-5 p 840