Klippel-Feil syndrome constitutes fusion of bodies of some crevical vertebrae or their spines with or without other skeletal abnormalities.
The neurological abnormalities are attributed to other abnormality of the skeleton such as hemivertebrae, kyphoscoliosis. There is maldevelopment of neuraxis or nuclear agenesis.
Clinically patient has short neck, low hair line and restricted movements of the cervical spine. Mirror movements of upper limbs is an important sign in which any movement initiated by one limb is involuntarily initiated by the other limb.
Diagnosis of Klippel-Feil syndrome is made by demonstration of partial or complete fusion of cervical vertebrae in a lateral view radiologically.
Arnold Chiari malformation
It is characterized by downward displacement of the medulla into cervical spinal canal along with hermiation of tonsils of the cerebellum.
In some cases there is displacement of medulla and pons along with fourth ventricle into the cervical canal.
In children and infants this malformation is associated with hydrocephalus and meningomyelo code while in adults there are features of cerebellar involvement, syringomyelia, disseminated sclerosis and high cervical tumour.
Clinically patient has abnormally short neck with a somewhat mushroom shaped head. There is pain in the neck and occipital headache.
Features of raised intra cranial pressure are presenting feature in 10- 15 per cent of patient while others have lower cranial nerve palsies and features of cervical cord compression.
Diagnosis of this Klippel-Feil syndrome is made by CT scan or MR imaging. Treatment is by surgical decompression when it is symptomatic.