Syndrome Klippel-Féile

Klippel-Féile syndrome is a rare disease first reported by researchers whose name it bears in France in 1912. It is characterized by congenital fusion of two of the seven cervical vertebrae. Actually Klippel-Féile syndrome occurs in a heterogeneous group of patients who share only the presence of a congenital defect in the formation and segmentation of the cervical spine.
Associated anomalies of other organs and systems may be present. This heterogeneity requires careful evaluation of all patients and regimens that range from changing activities chururgicale interventions on the spine. It is unclear if the syndrome is a clinical entity or is an element of the spectrum of congenital spinal deformities.The most common signs of disorder are short neck, low insertion loss in the back of the head and upper spine mobility limited.Associated abnormalities may include scoliosis, spina bifida, anomalies of the kidneys and ribs, cleft palate, respiratory problems and heart malformations.
Andre Féile proposed a classification of the syndrome Klippel-listing malformations Féile cervical, thoracic and lumbar spine.More recently other researchers have proposed other three classifications that address particular cervical spine anomalies and their associated symptoms.
Treatment is symptomatic syndrome and Klippel-Féile may include surgery to relieve cervical instability and construction craniocervicala spinal cord and to correct scoliosis. Physical therapy can also be helpful. Prognosis is good for most people affected if the disease is treated early and adequately. Avoid activities that injure the neck. Abnormalities associated with symptoms can be fatal if not treated.
Pathogenesis and causes
The etiology of Klippel-Féile syndrome is unknown. Syndrome may present with a variety of other clinical syndromes, including fetal alcohol syndrome, Goldenhar syndrome and extremity anomalies.It has been suggested to be a genetic condition, but heredity is a low incidence in the population. Other researchers have suggested that sidnromul would be a global type of fetal injury that could explain other associated conditions.
Signs and symptoms
Patients with this syndrome shows beginning in childhood. Clinical presentation is varied because of different syndromes and associated anomalies that may occur. A complete medical history and physical examination can describe and other anomalies.Patients have a short neck and neck motion limitation. Low insertion loss in the neck is present in 50% of them. Loss of rotation is more pronounced than loss of flexion or extension.Other patients present with torticollis and facial asymmetry.Neurological problems can develop in 20% of patients.Occipitocervicale abnormalities are the most common cause of neurological problems. Some people may experience pain.30% of patients shows the associated scoliosis. In some people scoliosis is congenital, other patients develop scoliosis and spinal stenosis thoracic spine.
Craniocervicale junction abnormalities can cause instability in the lower segments. Traumatic tetraplegia is reported after a minor trauma. Sprengel anomaly occurs in 30% of patients.Renal abnormalities are common in patients with Klippel-Féile syndrome and can be severe. Minor abnormalities of renal collecting system include duplicitous, and swelling of bilateral tubular renal ectopia. Major anomalies include hydronephrosis, absence of a kidney, horseshoe kidney.Cardiovascular abnormalities are represented mostly by septal defects.Torticollis and facial asymmetry occurring in 20-50% of patients.Craniosinostoza anomalies are rarely associated, ear anomalies, anencephaly, and craniofacial anomalies.
Féile syndrome Klippel-Classification:I-type massive cervical spine fusionType II fusion of vertebrae 1-2Type III-thoracic and lumbar spine abnormalities in association with the type I syndrome.
Diagnosis
Imaging Studies:Anteroposterior and lateral radiograph of the cervical spine is the first study indicated. If abnormalities are discovered will be evaluated carefully craniocervicala junction. Radiografiuile flexion-extension is recommended if instability is suspected fuzate junction or if two segments are separated by an open segment.Radiographs of the entire columns are needed to detect other abnormalities. Examination of the chest is important to exclude cardiac damage. It can detect abnormalities of the ribs: Multiple merger.Tomography scan 3-D reconstruction is important for patients evaluated for surgery. It can detect cervical stenosis. 3D reconstruction is needed to determine anatomy.MRI is indicated in patients with neurological deficits. The study of flexion-extension of the entire column is helpful to look nervous system abnormalities as siringomielia.Renal ultrasound is indicated to look for renal anomalies.
Treatment
Medical therapy Féile syndrome Klippel-dependent congenital anomalies present. Patients with genitourinary abnormalities should contact a nephrologist or urologist, a cardiologist patients with cardiac abnormalities, those with abnormal hearing an ENT specialist.
Surgical therapy:Surgery is indicated for a variety of medical sutuatii in these patients. As a result of cervical fusion and the differences in growth of vertebral body deformation can progress. Cervical spine instability can develop fusion between two separate sets of a normal segment. Neurological deficits and persistent pain are indications for surgery. Develop a compensatory scoliosis of the thoracic spine may require intervention and tijare. Symptomatic spinal stenosis may require decompression and fusion.Prognosis:The prognosis depends Féile syndrome Klippel-specific abnormalities. Careful evaluation, constant monitoring and coordination with other professionals are important to avoid not diagnosed correctly.