Klippel-Feil Research Articles

Poster 484 3D Printed Orthotic Designed for Klippel-Feil Syndrome Affected Hypoplastic Thumb: A Case Report

Poster 484 3D Printed Orthotic Designed for Klippel-Feil Syndrome Affected Hypoplastic Thumb: A Case Report

Diagnosing a possible case of juvenile idiopathic arthritis: A palaeopathology study from the Ishkeenickh River Cave Site

In the summer of 1967, a relatively complete skeleton of a juvenile was excavated from the Ishkeenickh River Cave Site (now the Ksi Hlginx River) in British Columbia, Canada, dating from approximately 2000 years ago. This individual, likely aged between 10 and 12 years at time of death, displays osteological features consistent with a chronic arthropathy. The most striking pathological changes are on the spine, with bony ankylosis present on several of the cervical and thoracic vertebrae. Lesions can also be observed on the ribs, the ilia, the femora, and a tibia. The arthritic conditions of juvenile-onset ankylosing spondylitis, juvenile psoriatic arthritis, and juvenile-onset adult-type rheumatoid arthritis, along with Klippel-Feil syndrome, are possible aetiologies discussed as part of a differential diagnosis. The presence of post-mortem damage as well as missing bones makes an absolute diagnosis of a disease impossible, however the lesions present on this skeleton seem to be most consistent with juvenile-onset ankylosing spondylitis. The majority of published research on these diseases appears in clinical contexts, therefore this case study represents a unique opportunity to observe the bony changes that occur with juvenile idiopathic arthritis in the context of palaeopathology.

Surgical Treatment of Occipitocervical Dislocation with Atlas Assimilation and Klippel-Feil Syndrome Using Occipitalized C1 Lateral Mass and C2 Fixation and Reduction Technique

To introduce and assess a surgical treatment of occipitocervical (OC) dislocation with atlas assimilation and Klippel-Feil syndrome (KFS) using occipitalized C1 lateral mass and C2 fixation and reduction technique. From January 2007 to August 2013, 58 symptomatic patients with OC dislocation and KFS of C2-3 congenital fusion and atlas assimilation were surgically treated in our institution via this technique. After opening the C1-2 facet joints via a posterior approach, OC reduction was conducted by intraoperative manipulation and C1 lateral mass and C2 pedicle screw and rod fixation. The instrument position, fusion status, and clinical outcome were analyzed. The average follow-up was 36 months (range, 18-52 months). Radiologically, effective reduction was achieved in 56 patients (96.6%) and <50% reduction in 2 (3.4%) who had additional transoral decompression. Neurologic improvement and solid bone fusion were achieved in all patients. The clinical symptoms improved for all patients, with the averaged Japanese Orthopedic Association myelopathy scores increasing from 11.5 to 15.6 (P < 0.01). In patients with OC dislocation and KFS of C2-3 fusion and atlas assimilation, posterior manipulative reduction combined with occipitalized C1 lateral mass and C2 fixation provides a reliable and effective treatment.

The intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome.

Our knowledge and understanding of vertebral fusion, defined and eponymously known as Klippel-Feil syndrome in the early 1900s, have a long history. This uncommon finding has been identified as early as 500 B.C. in an Egyptian mummy. Many more examples of spinal vertebra fusion have been described by Greek historians and recovered by archeologists demonstrating this entity's rich history. Klippel-Feil syndrome is a rare skeletal anomaly characterized by abnormal fusion of two or more vertebrae. With the advent of newer molecular technology and genetic discoveries, we now have a better understanding of the etiology and possible pathogenesis of this disease.

Monsters and the case of L. Joseph: André Feil's thesis on the origin of the Klippel-Feil syndrome and a social transformation of medicine.

André Feil (1884-1955) was a French physician best recognized for his description, coauthored with Maurice Klippel, of patients with congenital fusion of cervical vertebrae, a condition currently known as Klippel-Feil syndrome. However, little is known about his background aside from the fact that he was a student of Klippel and a physician who took a keen interest in describing congenital anomalies. Despite the relative lack of information on Feil, his contributions to the fields of spinal disease and teratology extended far beyond science to play an integral role in changing the misguided perception shrouding patients with disfigurements, defects, deformities, and so-called monstrous births. In particular, Feil's 1919 medical school thesis on cervical abnormalities was a critical publication in defying long-held theory and opinion that human "monstrosities," anomalies, developmental abnormalities, and altered congenital physicality were a consequence of sinful behavior or a reversion to a primitive state. Indeed, his thesis on a spinal deformity centering on his patient, L. Joseph, was at the vanguard for a new view of a patient as nothing less than fully human, no matter his or her physicality or appearance.

"Clinical triad" findings in pediatric Klippel-Feil patients.

BackgroundIt has been propagated that patients with Klippel-Feil syndrome (KFS) exhibit “clinical triad” findings (CTFs), known as a short neck, low posterior hairline, and limited cervical range of motion (ROM). However, the literature has noted that up to 50 % of KFS cases may not present with such findings and the reasoning behind such assertions remains speculative. As such, the following study addressed the association between CTFs to that of congenitally-fused cervical segments and other risk factors in KFS patients.MethodsWe conducted a retrospective clinical study based on prospectively collected radiographic data. Thirty-one KFS patients at a single institution were assessed. Radiographs were used to evaluate the location and extent of congenitally-fused segments (spanning the occiput (O) to the first thoracic vertebra (T1)), as well as examining coronal and sagittal cervical alignments based on the Samartzis et al. KFS classification. Clinical records were evaluated to account for the initial clinical assessment of CTFs. Patients were further stratified into two groups: Group 1 included patients noted to have any CTFs, while Group 2 included patients who had no such findings.ResultsThere were 12 males and 19 females (mean age at initial consultation: 9.7 years). No evidence of any of the CTFs was shown in 35.5 % of patients, whereas 38.7, 16.2 and 9.7 % were determined to have one, two or all three criteria, respectively. Limited cervical ROM was the most common finding (64.5 % of patients). In Group 1, 25 % had a short neck, 30 % a low posterior hairline, and 100 % exhibited limited cervical ROM. Group 1 had a mean of 3.9 fused cervical segments, whereas Group 2 had a mean of 2.5 fused cervical segments (p = 0.028). Age, sex-type, occipitalization and alignment parameters did not significantly differ to Group-type (p > 0.05). In Group 1, based on the Samartzis et al. Types I, II, and III, 16.7, 73.3, and 80.0 % of the patients, respectively, had at least one CTF.ConclusionsComplete CTFs were not highly associated during the clinical assessment of young KFS patients. However, KFS patients with extensive, congenitally-fused segments (i.e. Samartzis et al. Type III) were significantly more likely to exhibit one of the components of the CTF, which was predominantly a limited cervical ROM. Clinicians managing young pediatric patients should not rely on the full spectrum of CTFs and should maintain a high-index of suspicion for KFS, in particular in individuals that exhibit associated spinal findings, such as congenital scoliosis.

Crisis Management of Accidental Extubation in a Prone-Positioned Patient with Klippel-Feil Syndrome

We present the case of an accidental extubation in a prone-positioned patient with a challenging airway because of Klippel-Feil syndrome and previous cervical spine fusions. The surgical procedure was well underway when this occurred, which added substantially to the difficulties produced by this event. We herein highlight the corrective steps we took in our case. We also recommend the need for a comprehensive preoperative briefing with all operating room personnel together with an action plan for how to prevent this particular scenario.

Risk factor analysis and decision-making of surgical strategy for V3 segment anomaly: significance of preoperative CT angiography for posterior C1 instrumentation

Background ContextAwareness of vascular anomalies is crucial to avoid iatrogenic injuries during surgical procedure. Although V3 segment anomaly has been well described, the incidence of V3 segment anomaly has been rather variable in the literature, and there are few reports regarding the adequate surgical strategy for each type of V3 segment anomaly. PurposeThis study aimed to analyze the incidence of V3 segment anomaly and demonstrate the importance of recognizing vertebral artery (VA) anomaly in deciding the surgical strategy for C1 screw placement. Study DesignA retrospective cohort study was carried out. Patient SampleThe sample included 147 patients who underwent C1 posterior instrumentation and preoperative three-dimensional computed tomography angiography (3D CTA). Outcome MeasuresThe primary outcome of this study was the incidence of V3 segment anomaly using preoperative CTA, and the secondary outcome was the risk factor analysis of the V3 segment anomaly. MethodsThere were 147 patients who underwent C1 posterior instrumentation to treat various kinds of upper cervical disease. The 3D CTA of the patients were assessed preoperatively to identify the anomaly of the VA. Each surgical technique of C1 posterior instrumentation was decided upon the shape and the course of the VA around the atlas. ResultsDuring the study period, 11 cases of V3 segment anomaly (7.5%) were found on 3D CTA. Persistent intersegmental artery was found in nine cases and was the most common variant of VA anomaly. Early branch of posterior inferior cerebellar artery was found in three cases. Most of V3 segment anomaly was found unilaterally, but there were two cases with bilateral V3 anomaly. Seven cases (63.6%) were associated with congenital bony abnormality around craniovertebral junction (CVJ), such as occipital assimilation, Klippel-Feil syndrome, and os odontoideum. V3 segment anomaly was significantly common in the cases with bony abnormality (29.2% (7/24) vs. 3.6% (4/123), p<.05). Compared with patient without bony abnormality, the odds ratio was 10.78 (95% CI: 2.88–40.37) for those with congenital bony abnormalities. Rheumatoid arthritis was not a risk factor of V3 segment anomaly (p=.391). ConclusionsThe course of the VA is heterogenous, and the V3 segment anomaly of the VA is more common in the cases with congenital bony abnormalities around CVJ. Therefore, preoperative radiological studies should be performed to identify V3 segment variations and reduce the risk of VA injury. To avoid significant morbidities associated with VA, surgical technique of C1 posterior instrumentation should be decided depending upon the V3 segment anomaly. A more optimal entry point and trajectory for C1 fixation can be selected.

Cervical-thoracic Spine Inclination (CTSI): Anatomy Peculiarities and Surgical Options

Introduction The bayonet congenital abnormality of cervical-thoracic spine was previously described as a rarest clinical case under the title “congenital upper spine spondylolisthesis ” (Tokgozoglu AM et all., 1994) or “congenital dislocation of the cervical spine” (Shintaki M et all., 2013) without detailed description of anatomy and principles of surgical treatment. Our series include analysis of 10 CTSI cases from 4 clinics. Material and Methods Clinical, X-ray, CT and MRI peculiarities of 10 patients aged from 1 year 8 mns till 15 years were analyzed. The repeated cervical-thoracic abnormality included antero-posterior and cranial-caudad shift of the spine into the cervical spinal canal. All patients had arcs dysplasia, but any case has a complete posterior segmental defects, MMC or split spinal cord syndrome. Results According to Frankel scale the neurological status was estimated as a type E in one patient, type D – in 4, type C - in 4 and type B in one, incl. two paraparesis and 7 tetraparesis cases. Cranial spine was formed by 4 till 8 vertebrae (max – 6 vertebrae in 5 cases). Abnormality was accompanied by Sprengel disease in 2, by neurofibromatosis type I in one, by failure of segmentation (Klippel-Feil syndrome) in 5 and neural arc dysplasia in 10 cases. 9/10 patients were operated. The operations included circular decompression of spinal cord and posterior instrumentation; 8 operations were done from posterior approach only, 1 - from anterior and posterior approaches. Four procedures were done with Halo-cast fixation to produce pre-surgical local spinal stability. The post-op follow up floated from 7 month till 5 years. 6/9 patients demonstrated significant improvement in neurological sighs (one or more steps in Frankel scale) ; the neurological deterioration was occur in 2/9 cases, followed by a partial recovery in one and complete in another. Conclusion Our 10 cases series demonstrates a extremely rare type of the cervical-thoracic spinal abnormality. We the term “the cervical-thoracic spine inclination (CTSI)” because it reminiscent the cranial-vertebral pathology known as “the inclination of dens of C2 into foramen magnum.” From our point of view the inclination is a combined type of pathology which included an anterior-posterior and cranial displacement of caudal spinal segment(s); this pathology typical for transitional spinal zones and looks like spinal segmental dysgenesis but differ due to the absence of circular spinal column defect despite the combination of different types of vertebral abnormalities. CTSI is a repeated spinal syndrome which has a high risk of neurological complications. The spinal cord decompression and instrumentation are mandatory for this abnormality; the surgery could be done from the posterior approach only.

Klippel-Feil syndrome with butterfly vertebrae: rare case

A 42-year-old woman presented to the neurosurgery clinic with neck pain. She exhibited short neck, low posterior hairline, and limited neck movement. She had a normal neurologic examination. Magnetic resonance imaging and computed tomography revealed multiple congenital fusions of the cervical (C5–C7) and upper thoracic (T1–T3) vertebral body (Fig. 1, Fig. 2). Multiple hemivertebrae and butterfly vertebrae were also determined by magnetic resonance imaging (Fig. 1). Klippel-Feil syndrome with butterfly vertebrae is very rare but has been reported [ [1] Rahimi-Movaghar V. Moghtaderi A. Shahriarian S. Keshmirian B. Klippel-Feil anomaly associated with thoracic hemivertebrae/butterfly vertebrae and patella hypoplasia. Clin Dysmorphol. 2004; 13: 39-41 Crossref Scopus (3) Google Scholar ]. Fig. 2Three-dimensional volume-rendering computed tomographic (CT) image shows multiple congenital fusions of the cervical and upper thoracic vertebral body. View Large Image Figure Viewer Download Hi-res image

Kinematic Magnetic Resonance Imaging Assessment of the Degenerative Cervical Spine: Changes after Anterior Decompression and Cage Fusion.

Study Design A prospective cohort study. Objective Decompression and fusion of cervical vertebrae is a combined procedure that has a high success rate in relieving radicular symptoms and stabilizing or improving cervical myelopathy. However, fusion may lead to increased motion of the adjacent vertebrae and cervical deformity. Both have been postulated to lead to adjacent segment pathology (ASP). Kinematic magnetic resonance imaging (MRI) has been increasingly used to evaluate range of motion (ROM) of the cervical spine and ASP. Our objective was to measure ASP, cervical curvature, and ROM of individual segments of the cervical spine using kinematic MRI before and 24 months after monosegmental cage fusion. Methods Eighteen patients who had single-level interbody fusion were included. ROM (using kinematic MRI) and degeneration, spinal stenosis, and cervical curvature were measured preoperatively and 24 months postoperatively. Results Using kinematic MRI, segmental motion of the cervical segments was measured with a precision of less than 3 degrees. The cervical fusion did not affect the ROM of adjacent levels. However, pre- and postoperative ROM was higher at the levels immediately adjacent to the fusion level compared with those further away. In addition, at 24 months postoperatively, the number of cases with ASP was higher at the levels immediately adjacent to fusion level. Conclusions Using kinematic MRI, ROM after spinal fusion can be measured with high precision. Kinematic MRI can be used not only in clinical practice, but also to study intervention and its effect on postoperative biomechanics and ASP of cervical vertebrae.

A Type 3 Klippel Feil Syndrome Case With Atrial Septal Defect and Atrial Septal Aneurysm

Klippel Feil syndrome (KFS) is a rare congenital disorder characterized by short neck due to abnormal fusion of cervical vertebrae, limited head and neck motion and low posterior hairline. We present a rare case of type 3 KFS with the fusion of cervical and thoracic vertebrae, cervical hemivertebrae anomaly, Sprengel's deformity, rib fusion anomaly, accompanied by atrial septal defect/septal aneurysm, thereby reviewing the literature about this syndrome.

A study of fusion of cervical vertebrae- C2 with C3

Background: Congenital anomalies are common in the vertebral column. In condition of fusion of the cervical vertebrae, two vertebrae appear not only structurally as one but also function as one. This fusion may be congenital or acquired. Vertebral fusion anomalies are likely to be associated with disturbance of Pax-1 gene expression in the developing vertebral column. Aims and Objectives: The present study is to study the fused C2 with C3 vertebrae and its clinical importance. Materials and Methods: The present study conducted on 75 dry adult human axis (C2) vertebrae of either sex in the Department of Anatomy, Vijayanagar Institute of Medical Sciences, Ballari, Karnataka, India. The fused C2 with C3 was found and carefully studied. Results: In the present study the incidence of fused C2 with C3 is 1.33% (1out of 75). Conclusion: Fusion of C2 C3 clinically important to rule out various syndromes; Klippel-feil syndrome, Crouzons syndrome, which causes abnormalities of the neck movements with shortening of spine in the cervical region. Congenital Fused Congenital Vertebrae is one of the primary malformation of chorda dorsalis. Awareness of anomalies of cervical vertebrae is of great importance to anatomists, orthopaedicians, neurologists, neurosurgeons and even orthodontists. Also anaesthetists must be aware of these anomalies while doing endotracheal intubation, where extension of the neck is done.

A rare case of klippel feil syndrome with cleft palate: A case report

Klippel-Feil syndrome (KFS) is a rare condition also known as synostosis of cervical spine, first described in the medical literature in 1912. It consists of the triad of symptoms such as short neck, limitation of neck movements, and low posterior hairline and also associated with somatic diseases and defects such as scoliosis, anomalies in urogenital system, congenital heart defects, deafness, facial asymmetry, synkinesis, or mirror movements. KFS manifests in the oral cavity with cleft palate, limitation of mouth opening, hypodontia oligodontia, and micrognathia.

A case of fracture through fused cervical segments following trauma in a patient with Klippel-Feil syndrome.

A case of fracture through fused cervical segments following trauma in a patient with Klippel-Feil syndrome.

A Wide Spectrum of Axial Mesodermal Dysplasia Complex With Rhombencephalic Anomaly: A Case Report.

Axial mesodermal dysplasia complex (AMDC) arises in variable combinations of craniocaudal anomalies such as musculoskeletal deformities, neuroschisis, or rhombencephalic developmental disorders. To the best of our knowledge, the co-existence of AMDC with associated musculoskeletal anomalies, medullary neuroschisis with mirror movements, and cranial nerve anomalies has not yet been reported. Here, we report the case of a 4-year-old boy whose clinical features were suggestive of Goldenhar syndrome and Poland syndrome with Sprengel deformity. Moreover, he showed mirror movements in his hands suspected of rhombencephalic malformation, and infranuclear-type facial nerve palsy of the left side of his face, the opposite side to the facial anomalies of Goldenhar syndrome. After conducting radiological studies, he was diagnosed with medullary neuroschisis without pontine malformations and Klippel-Feil syndrome with rib anomalies. Based on these findings, we propose that clinical AMDC can be accompanied by a wide variety of musculoskeletal defects and variable degrees of central nervous system malformations. Therefore, in addition to detailed physical and neurological examinations, imaging studies should be considered in AMDC.

Do we know multifarious organ abnormalities of adults with Klippel-Feil syndrome?

Do we know multifarious organ abnormalities of adults with Klippel-Feil syndrome?

Treatment of Basilar Invagination With Klippel-Feil Syndrome: Atlantoaxial Joint Distraction and Fixation With Transoral Atlantoaxial Reduction Plate.

Klippel-Feil syndrome (KFS) is characterized by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. In patients with KFS with basilar invagination (BI), compression of the brainstem and upper cervical cord results in neurological deficits, and decompression and occipitocervical reconstruction are required. The highly varied anatomy of KFS makes a posterior occipitocervical fixation strategy challenging. For these patients, the transoral atlantoaxial reduction plate (TARP) operation is an optimal option to perform a direct anterior fixation to achieve stabilization. To evaluate the effectiveness of TARP internal fixation for the treatment of BI with KFS. Ten consecutive patients with BI and KFS who underwent TARP reduction and fixation from 2010 to 2012 were reviewed. Clinical assessment and image measurements were performed preoperatively and at the most recent follow-up. Nine patients (9/10) were followed for an average of 31.44 months. Symptoms were alleviated in 9 of 9 patients (100.00%). The odontoid process was ideally corrected with the TARP system. The mean clivus canal angle improved from 124° preoperatively to 152° postoperatively. The average preoperative and postoperative Japanese Orthopedic Association scores were 10.56 (n = 9) and 14.67 (n = 9), respectively, indicating 63.82% improvement. There was bony bridge catenation on the computed tomography scans and no evidence of hardware failure at 6 months. The TARP operation is effective and safe for treating patients with BI with KFS. The midterm clinical results were satisfactory.

Chronic Obstructive Pulmonary Disease and Pulmonary Hypertension in a Patient With Klippel-Feil Syndrome: A Rare Association

SESSION TITLE: Airways Global Case Reports I SESSION TYPE: Global Case Report Poster PRESENTED ON: Tuesday, October 27, 2015 at 01:30 PM - 02:30 PM INTRODUCTION: Klippel-Feil syndrome (KFS) is a rare condition associated with multiple congenital anomalies. It's actual incidence is unknown. Nevertheless, it has been estimated that it occurs in approximately 1 in 40,000 to 42,000 newborns. Reported cases with pulmonary involvement includes agenesis and hypoplasia of the lung, pulmonary hypertension (PH) and bronchial asthma. To our knowledge, chronic obstructive pulmonary disease (COPD) with pulmonary hypertension in a patient with KFS has never been cited in the literature, hence we report the finding in a patient with such an association. CASE PRESENTATION: A 54-year-old obese Filipino male diagnosed with congenital heart disease (patent foramen ovale) and hypertension was admitted at the Philippine Heart Center due to progressive dyspnea and non productive cough for twelve days. He was a previous 30-pack year smoker. Physical examination revealed a short statured-individual with low hairline, short and webbing of the neck. He has evident chest wall deformity associated with thoracolumbar scoliosis. He was in cardio-respiratory distress. Auscultation of the chest showed bibasal crackles and expiratory wheezes. Arterial blood gas analysis showed an acute respiratory acidosis with adequate oxygenation, hence he required assisted mechanical ventilatory support. Chest radiograph showed mild pulmonary congestion with pneumonic infiltrates and magnified heart. Electrocardiogram showed nonspecific ST-T wave changes with right axis deviation. Troponin I was elevated. He was then started with acute coronary syndrome regimen, antibiotics and inhaled short-acting bronchodilator. Echocardiography showed dilated right ventricle with hypertrophy and dilated main pulmonary artery with mild PH (48 mmHg). In lieu with the acute renal failure, he was referred to a nephrologist. A request of kidney ultrasound showed absent right kidney. In line with the clinical features KFS a radiography of the spine showed fusion of C1 and basal output and multiple fusion of C2, C3 and C4 cervical vertebrae, hence confirming the diagnosis. Pulmonary function test showed very severe obstructive ventilatory defect with no significant response to bronchodilator, hence a diagnosis of severe COPD was made. He was successfully liberated from ventilatory support and discharged after 3 weeks of hospitalization with treatment of inhaled long-acting bronchodilator plus steroid. DISCUSSION: Klippel-Feil syndrome is a rare skeletal disorder primarily characterized by abnormal union of two or more cervical vertebrae. The triad of low hairline, short neck and limited neck movement which are present in the case remains to be the hallmark of the disorder. Moreover, involvement of visceral anomalies such as patent foramen ovale and right kidney agenesis merely defined the diagnosis. The association with COPD and PH is yet to be highlighted since no reports are available in the literature. Nevertheless, with the patient's history of chronic smoking provides a strong risk factor for the development of severe airflow obstruction. The presence of patent foramen ovale is rare in this case and poses no effect in the development of PH. The combined effects of hypoxic pulmonary vasoconstriction, inflammation and loss of pulmonary capillaries due to severe COPD could be the main insult. Furthermore, Suga et al explained the contributory effect of thoracic deformity in PH. This is due to hypoventilation and restriction of the pulmonary vascular bed causing reactive pulmonary arterial vasoconstriction. Treatment of patients with KFS is directed on associated anomalies or co-morbidities. In this case, management of acute respiratory failure due to complicating comorbidities was made. CONCLUSIONS: Klippel-Feil syndrome is a clinically well recognized disorder and commonly associated with many congenital malformations. Although rare, COPD and PH may occur with this syndrome. Clinicians should be directed towards detecting associated anomalies or co-morbidities for appropriate management. Reference #1: Klippel M, Feil A. “Un cas d'absence des vertebres cervicales. Avec cage thoracique remontant jusqu'a la base du crane (cage thoracique cervicale)”. Nouv Iconog Salpetriere 1912. 25: 223-250. Reference #2: Tracy M, Dormans JP,. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res 2004; (424): 183-90 Reference #3: Suga K, Motoyama K, Hara A, Kume N et al. Respiratory failure and pulmonary hypertension associated with KFS. Annals of nuclear medicine 1999. 13(6): 441-446. DISCLOSURE: The following authors have nothing to disclose: Edgardo Tiglao, Teresita DeGuia, Maria Paz Mateo No Product/Research Disclosure Information

Cervical instability in Klippel-Feil syndrome: case report and review of the literature

The authors present a case of cervical myelopathy and radiculopathy in the setting of multiple Klippel-Feil syndrome abnormalities treated surgically with a single-level C3–C4 anterior cervical discectomy and fusion. We discuss the clinical presentation, radiographic findings, and various treatment options for cervical spine abnormalities in Klippel-Feil syndrome. This 22-year-old female with Klippel-Feil syndrome presented with intermittent neck pain, left upper extremity weakness, and paresthesias. Preoperative MRI, CT, and X-rays of the cervical spine revealed anterolisthesis at C3/4 with unstable movement on flexion and extension imaging. In addition, there were multiple segmental fusion abnormalities including hemivertebrae and other congenital fusion abnormalities. A C3–C4 anterior cervical discectomy and fusion was performed with intervertebral disc spacer. Adequate decompression was achieved with postoperative resolution of the patient’s symptoms and improvement in neurological exam. Single-level anterior cervical discectomy and fusion can be utilized for treatment of cervical myelopathy and radiculopathy in the setting of multiple congenital Klippel-Feil syndrome abnormalities.