Bilateral thoracic bifurcation of the common carotid artery associated with Klippel-Feil anomaly. (1/46)

We report the case of a 72-year-old man with bilateral intrathoracic carotid bifurcations associated with a Klippel-Feil anomaly. The left and right carotid bifurcations were located at levels corresponding to the second and fourth thoracic vertebrae, respectively. A possible association between low carotid bifurcation and the Klippel-Feil anomaly is suggested.  (+info)

A phenothiazine derivative in the treatment of spasticity. (2/46)

The efficacy of a selective fusimotor suppressant, the phenothiazine (+/-)-10-3-dimethylamino-2-methylpropyl)-2-valeroylphenothiazine, has been assessed in a double-blind crossover trail in eight patients suffering from cerebral spasticity and one patient suffering from spinal spasticity. Dosage was 40 mg daily. Independent clinical and electromyographic methods of assessment were used. The active agent produced a small but significant reduction in spasticity, although this was of clinical value in only a few patients. There were few side-effects. It is recommended that further studies using higher dosages be undertaken.  (+info)

Posterior fossa dermoid in association with Klippel-Feil syndrome--a short report. (3/46)

A posterior fossa dermoid cyst in association with the Klippel-Feil syndrome, in a 4 year old child is reported. Early diagnosis to prevent complications like neural compression, cyst rupture and staphylococcal meningitis justifies investigation for posterior fossa dermoids in cases of Klippel-Feil syndrome. Their embryological basis is discussed.  (+info)

Investigations into the association between cervicomedullary neuroschisis and mirror movements in patients with Klippel-Feil syndrome. (4/46)

BACKGROUND AND PURPOSE: Our purpose was to investigate the association between cervicomedullary neuroschisis and mirror movements in patients with Klippel-Feil syndrome (KFS). METHODS: We conducted a retrospective analysis of 23 patients with KFS who were seen at our institution during a 10-year period. Sixteen of the 23 patients had undergone adequate axial view cross-sectional imaging of the upper cervical spine. The degree of neuroschisis was assessed for each patient, using an objective scoring system. Twelve patients were evaluated for the presence or absence of mirror movements. RESULTS: A high percentage of female patients with KFS was noted (17 [74%] of 23 patients). Adequate cross-sectional images were available for 16 of the 23 patients, six (38%) of whom had some form of cervicomedullary neuroschisis. Five of the six patients had been clinically evaluated, and all were shown to have mirror movements. One patient with Chiari II malformation, which obscured evaluation for neuroschisis, also had mirror movements. Of the remaining nine patients without cervicomedullary neuroschisis, six were evaluated, and none of the six had mirror movements. A review of the theoretical neuroanatomic basis of mirror movements is presented herein, and neurosurgical management concerns for patients with KFS are discussed. CONCLUSION: A strong association exists between cervicomedullary neuroschisis and mirror movements in cases of KFS. Screening of patients with mirror movements may help identify clinically unsuspected KFS and may also help stratify risk within this patient population, identifying patients who might benefit from early neurosurgical intervention.  (+info)

Klippel-Feil syndrome - the risk of cervical spinal cord injury: a case report. (5/46)

BACKGROUND: Klippel-Feil syndrome is defined as congenital fusion of two or more cervical vertebrae and is believed to result from faulty segmentation along the embryo's developing axis during weeks 3-8 of gestation. Persons with Klippel-Feil syndrome and cervical stenosis may be at increased risk for spinal cord injury after minor trauma as a result of hypermobility of the various cervical segments. Persons with Klippel-Feil Syndrome often have congenital anomalies of the urinary tract as well. CASE PRESENTATION: A 51-year male developed incomplete tetraplegia in 1997 when he slipped and fell backwards hitting his head on the floor. X-rays of cervical spine showed fusion at two levels: C2 and C3 vertebrae, and C4 and C5 vertebrae. Intravenous urography (IVU) revealed no kidneys in the renal fossa on both sides, but the presence of crossed, fused renal ectopia in the left ilio-lumbar region. This patient had a similar cervical spinal cord injury about 15 years ago, when he developed transient numbness and paresis of the lower limbs following a fall. DISCUSSION AND CONCLUSION: 1) Persons with Klippel-Feil syndrome should be made aware of the increased risk of sustaining transient neurologic deterioration after minor trauma if there is associated radiographic evidence of spinal stenosis.2) Patients with Klippel-Feil syndrome often have congenital anomalies of the urinary tract. Our patient had crossed, fused, ectopia of kidney.3) When patients with Klippel-Feil syndrome sustain tetraplegia they have increased chances of developing urinary tract calculi. Treatment of kidney stones may pose a challenge because of associated renal anomalies.4) Health professionals caring for cervical spinal cord injury patients with Klippel-Feil syndrome and renal anomalies should place emphasis on prevention of kidney stones. A large fluid intake is recommended for these patients, as a high intake of fluids is still the most powerful and certainly the most economical means of prevention of nephrolithiasis.  (+info)

Mutations in PAX1 may be associated with Klippel-Feil syndrome. (6/46)

Pax genes are a highly conserved family of developmental control genes that encode transcription factors. In vertebrates, Pax genes play a role in pattern formation during embryogenesis. Mutations in Pax genes have been associated with both spontaneous mouse mutants and congenital human diseases. The mouse Pax1 mutant phenotype undulated is characterised by vertebral segmentation defects reminiscent of the human disorder Klippel-Feil syndrome (KFS). To determine whether PAX1 haploinsufficiency plays a role in KFS, we have defined the gene structure of the human PAX1 gene and screened 63 KFS patients for mutations in this gene. Differences in the PAX1 sequence were detected in eight patients. Two patients had a silent change within the paired box that was also seen in 2/303 control chromosomes. The other variants were missense, silent or intronic changes not represented in the control panel tested. The significance of these results and the possible role of PAX1 in the pathogenesis of KFS are discussed.  (+info)

Wildervanck syndrome (cervico-oculo-acoustic syndrome). (7/46)

Wildervanck syndrome i.e. cervico (Klippel-Feil anomalad) -oculo (Duane-Stilling-Turk phenomenon with bilateral abducens palsy)-acoustic (deafness) is a rare syndrome. We report here 4 cases diagnosed as Wildervanck syndrome and analyse their findings. One patient had an an atrial septal defect. Such association of congenital heart disease with Wildervanck syndrome has not been reported previously.  (+info)

Surgical management of high cervical disc prolapse associated with basilar invagination--two case reports. (8/46)

C3-4 cervical disc prolapse was associated with basilar invagination and short neck in a 21-year-old man and additionally with an extensive Klippel-Feil abnormality and fusion of multiple cervical vertebrae in a 32-year-old man. The transoral surgical route was adopted for cervical discectomy in the latter case and an additional odontoidectomy in the former case. Interbody plate and screw fixation was carried out in the patient with Klippel-Feil abnormality. Both the patients were relieved of symptoms and remained asymptomatic at follow up. Simultaneous fixation procedure is not mandatory after transoral surgery in patients with basilar invagination.  (+info)