Mitral Valve Regurgitation in Klippel-Feil Syndrome With Related Thoracic Deformity.

Klippel-Feil syndrome, characterized by congenital fusion of any 2 or more cervical vertebrae, is a rare disorder in which skeletal and other organ system-related abnormalities have been reported. This article reports a case of mitral valve regurgitation in a patient with Klippel-Feil syndrome and related thoracic deformity who underwent mitral valvuloplasty. Postoperatively, the mitral valve regurgitation disappeared, and there has been no recurrence for 3 years. This case highlights mitral valvuloplasty via median sternotomy as an excellent treatment for mitral valve regurgitation in a patient with thoracic deformity related to Klippel-Feil syndrome.

Chiari type III malformation associated with Klippel-Feil syndrome, a case report with a narrative review of the literature.

BACKGROUND: Chiari malformation type III (CM III), a rare hindbrain anomaly, often presents with various concurrent anomalies. This paper reports a unique case of CM III associated with Klippel-Feil syndrome (KFS), a condition previously unreported in Saudi Arabia and documented in only one other case globally in Turkey. This study aims to share insights into the unusual association between CM III and KFS, considering their close embryological development and involvement in the craniocervical junction. METHODOLOGY: The study presents a case of a 2.5-year-old female diagnosed with CM III and KFS. Diagnostic tools such as ultrasound, CT scans, MRI, and physical examinations were used to confirm the patient's condition. Surgical interventions, including decompression and encephalocele repair, were performed. RESULTS: Successful surgical interventions, including encephalocele repair and duraplasty, were carried out. Follow-up visits indicated a stable condition, marked improvement in lower limb strength, and the patient's ability to walk with assistance. CT follow-up affirmed a satisfactory surgical outcome. CONCLUSION: This case study illustrates the potential for an optimistic prognosis in CM III, even when accompanied by complex conditions such as KFS, through early diagnosis and intervention. It underscores the significance of antenatal screening for effective care planning and calls for further research and publications due to the rarity of this association. These findings contribute to our understanding of CM III and its related conditions, emphasizing the need for open-minded consideration of potential embryological associations.

Transmandibular Cervical Corpectomy for Persistent Spinal Cord Compression in a Patient With Klippel-Feil Syndrome: A Technical Note and Systematic Review.

BACKGROUND: Few studies have described a transmandibular approach for decompression in a patient with Klippel-Feil syndrome (KFS) for cervical myelopathy. OBJECTIVE: To describe the transmandibular approach in a KFS patient with cervical myelopathy and to perform a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. METHODS: A systematic review was performed using Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Embase and PubMed databases were searched from January 2002 to November 2022 for articles examining patients with KFS undergoing cervical decompression and/or fusion for cervical myelopathy and/or radiculopathy were included. Articles describing compression due to nonbony causes, lumbar/sacral surgery, nonhuman studies, or symptoms only from basilar invagination/impression were excluded. Data collected were sex, median age, Samartzis type, surgical approach, and postoperative complications. RESULTS: A total of 27 studies were included, with 80 total patients. Thirty-three patients were female, and the median age ranged from 9 to 75 years. Forty-nine patients, 16 patients, and 13 patients were classified as Samartzis Types I, II, and III, respectively. Forty-five patients, 21 patients, and 6 patients underwent an anterior, posterior, and combined approach, respectively. Five postoperative complications were reported. One article reported a transmandibular approach for access to the cervical spine. CONCLUSION: Patients with KFS are at risk of developing cervical myelopathy. Although KFS manifests heterogeneously and may be treated through a variety of approaches, some manifestations of KFS may preclude traditional approaches for decompression. Surgical exposure through the anterior mandible may prove an option for cervical decompression in patients with KFS.

Congenital Cervical Spinal Deformities.

Malformations of the cervical spine are a challenge in pediatric orthopedic surgery since the treatment options are limited. These congenital anomalies are often syndrome-related and have multiple repercussions on the function and statics of the cervical spine in all three planes. They are related to developmental abnormalities during the somite segmentation that occurs during the third week of embryonic development. Successful somitogenesis requires proper functioning of a clock regulated by complex signaling pathways that guide the steps needed to form the future spine. There is no specific classification for vertebral malformations at the cervical level. To characterize the progressive nature of a malformation, one must use general classifications. In the specific case of Klippel-Feil syndrome, these malformations can affect several vertebral levels in a continuous or discontinuous manner, but also the vertebral body and vertebral arch in a variable way. Thus, establishing a reliable prognosis in the coronal and sagittal planes is a complex undertaking. While technical mastery of certain osteotomy procedures has led to advances in the surgical treatment of rigid deformities of the cervical spine, the indications are still very rare. Nevertheless, the procedure has become safer and more accurate because of technical aids such as surgical navigation, robotics and 3D printed models or patient-specific guides. Occipitocervical transitional anomalies have embryological specificities that can explain the bony malformations seen at this level. However, most are rare, and the main concern is identifying any instability that justifies surgical stabilization. The presence of a cervical spine anomaly should trigger the search for occipitocervical instability and vice-versa.

Application of C2 subfacetal screws for the management of atlantoaxial dislocation in patients with Klippel-Feil syndrome characterized by a narrow C2 pedicle and high-riding vertebral artery.

OBJECTIVE: This study aims to investigate the clinical application and feasibility of C2 subfacetal screws in patients with Klippel-Feil syndrome (KFS), narrow C2 pedicles, and high-riding vertebral arteries (HRVAs). METHODS: The clinical data of seven patients with KFS, atlantoaxial dislocation, narrow C2 pedicles, and HRVAs treated with C2 subfacetal screws were analyzed in this retrospective study. The internal height, isthmus height, and pedicle width of C2 vertebra were measured using preoperative computed tomography (CT). Subfacetal screws were inserted for 7 patients (12 sides). The position and length of the screws were observed using postoperative CT. Intraoperative dura mater and vertebral artery (VA) injuries were recorded. Bone fusion was observed using follow-up CT. RESULTS: The internal height was 10.5 ± 3.2 mm, the isthmus height was 3.7 ± 1.8 mm, the pedicle width was 3.0 ± 1.4 mm, and the screw length was 19.7 ± 1.5 mm. All patients had HRVAs and narrow pedicles. No injury to the dura mater and vertebral artery (VA) occurred in this group of patients. Bone fusion was achieved in all patients during follow-up. CONCLUSIONS: In patients with KFS, HRVA, and a narrow C2 pedicle, there is sufficient space below the C2 articular surface for screw insertion. When the pedicle is narrow and the C2 pedicle screw is not suitable for placement due to possible injury to the VA, subfacetal screws are a feasible alternative.

Surgical Management Of Irreducible Atlanto-Axial Dislocation With OS Odontoideum And Klippel-Feil Syndrome.

Klippel-Feil syndrome (KFS) is the congenital fusion of two or more cervical vertebrae which is often associated with various other abnormalities in the cervical spine. Involvement the upper cervical segments leads to atlanto-axial instability which manifests as progressive neurological symptoms due to compression on the spinal cord. These cases pose a surgical challenge due the abnormal and unique anatomy of each patient. A 37-year-old patient presented with neck pain and cervical myelopathy due to a posterior subluxation of C2-3 fused segment over C4-6 fused segment. The patient had an os odontoideum, incomplete posterior arch of C1, anomalous course of vertebral artery and C3 hemi-vertebra. The patient was successfully managed with transoral odontoidectomy and occipeto-cervical fusion. Irreducible atlanto-axial dislocation in a patient with an abnormal upper cervical spine anatomy may require transoral decompression followed by posterior fusion.

[Research on effectiveness of occipito-odontoid angle in predicting dysphagia after occipitocervical fusion in patients with C 2, 3 Klippel-Feil syndrome].

Objective: To introduce a new occipitocervical angle parameter, occipito-odontoid angle (O-Da), for predicting dysphagia after occipitocervical fusion (OCF) in patients with C 2, 3 Klippel-Feil syndrome (KFS) and analyze its effectiveness. Methods: A total of 119 patients met selective criteria between April 2010 and November 2019 were retrospectively included as the study subjects. There were 56 males and 63 females. The age ranged from 14 to 76 years, with a median age of 51 years. There were 44 cases of basilar invagination and 75 cases of atlantoaxial subluxation. Forty patients were combined with C 2, 3 KFS. Seven patients underwent anterior decompression combined with posterior OCF and 112 patients underwent posterior OCF. The fixed segments were O-C 2 in 36 cases, O-C 3 in 51 cases, O-C 4 in 25 cases, and O-C 5 in 7 cases. All patients were followed up 21-136 months, with a median time of 79 months. The lateral cervical X-ray films before operation and at last follow-up were used to measure the occipital to C 2 angle (O-C 2a), the occipital and external acoustic meatus to axis angle (O-EAa), the occipital protuberance to axial angle (Oc-Axa), the O-Da, and the narrowest oropharyngeal airway space (nPAS). The differences of the above parameters between the last follow-up and the preoperative values were calculated (represented as dO-C 2a, dO-EAa, dOc-Axa, dO-Da, and dnPAS). Patients were divided into two groups according to whether they suffered dysphagia after operation, and the differences in clinical data and radiographic parameters were compared between the two groups. The correlation between occipitocervical angle parameters and nPAS in 40 patients with C 2, 3 KFS was analyzed respectively. In addition, sensitivity and specificity analyses were used to assess the effectiveness of dO-Da≤-5° for the prediction of postoperative dysphagia. Results: Thirty-one patients (26.1%) suffered dysphagia after OCF (dysphagia group), including 10 patients with C 2, 3 KFS; no dysphagia occurred in 88 patients (non-dysphagia group). There was no significant difference in age, follow-up time, fixed segment, proportion of patients with rheumatoid arthritis, proportion of patients with atlantoaxial subluxation, and proportion of patients with C 2, 3 KFS between the two groups ( P>0.05). The proportion of female patients was significantly higher in dysphagia group than in non-dysphagia group ( χ 2=7.600, P=0.006). The difference in preoperative O-C 2a between the two groups was significant ( t=2.528, P=0.014). No significant differences were observed in preoperative O-EAa, Oc-Axa, O-Da, and nPAS ( P>0.05). There was no significant difference in dO-C 2a, dO-EAa, dOc-Axa, dO-Da, and dnPAS between the two groups ( P>0.05). The dO-C 2a, dO-EAa, dOc-Axa, and dO-Da were positively correlated with dnPAS in 40 patients with C 2, 3 KFS ( r=0.604, P<0.001; r=0.649, P<0.001; r=0.615, P<0.001; r=0.672, P<0.001). Taking dO-Da≤-5° as the standard, the sensitivity and specificity of dO-Da to predict postoperative dysphagia in patients with C 2, 3 KFS were 80.0% (8/10) and 93.3% (28/30), respectively. Conclusion: The dO-Da is a reliable indicator for predicting dysphagia after OCF in patients with C 2, 3 KFS.

The predictive ability of occipital to C3 angle for dysphagia after occipitocervical fusion in patients with combined C2-3 Klippel-Feil syndrome.

BACKGROUND: Improper occipitocervical alignment after occipitocervical fusion (OCF) may lead to devastating complications, such as dysphagia and/or dyspnea. The occipital to C2 angle (O-C2a), occipital and external acoustic meatus to axis angle (O-EAa) have been used to evaluate occipitospinal alignment. However, it may be difficult to identify the inferior endplate of the C2 vertebra in patients with C2-3 Klippel-Feil syndrome (KFS). The purpose of this study aimed to compare four different parameters for predicting dysphagia after OCF in patients with C2-3 KFS. METHODS: There were 40 patients with C2-3 KFS undergoing OCF between 2010 and 2019. Radiographs of these patients were collected to measure the occipital to C3 angle (O-C3a), O-C2a, occipito-odontoid angle (O-Da), occipital to axial angle (Oc-Axa), and narrowest oropharyngeal airway space (nPAS). The presence of dysphagia was defined as the patient complaining of difficulty or excess endeavor to swallow. Patients were divided into two groups according to whether they had postoperative dysphagia. We evaluated the relationship between each of the angle parameters and nPAS and analyzed their influence to the postoperative dysphagia. RESULTS: The incidence of dysphagia after OCF was 25% in patients with C2-3 KFS. The Oc-Axa, and nPAS were smaller in the dysphagia group compared to non-dysphagia group at the final follow-up (p < 0.05). Receiver-operating characteristic (ROC) curves showed that dO-C3a had the highest accuracy as a predictor of the dysphagia with an area under the curve (AUC) of 0.868. The differences in O-C3a, O-C2a, O-Da, and Oc-Axa were all linearly correlated with nPAS scores preoperatively and at the final follow-up within C2-3 KFS patients, while there was a higher R2 value between the dO-C3a and dnPAS. Multiple linear regression analysis showed that the difference of O-C3a was the only significant predictor for dnPAS (ß = 0.670, p < 0.001). CONCLUSIONS: The change of O-C3a (dO-C3a) is the most reliable indicator for evaluating occipitocervical alignment and predicting postoperative dysphagia in C2-3 KFS patients. Moreover, dO-C3a should be more than - 2° during OCF to reduce the occurrence of postoperative dysphagia.

Cervical myelopathy in a patient with Klippel-Feil syndrome treated with a patient-specific custom cervical spine locking plate.

INTRODUCTION: Klippel-Feil Syndrome is the congenital fusion of at least two cervical vertebrae. Often asymptomatic, though in rare cases it may lead to severe cervical spine deformity and neurologic injury. CASE PRESENTATION: We report a case of a 48-year-old woman with a history of Klippel-Feil Syndrome and congenital scoliosis who developed progressive cervical myelopathy. She was surgically treated with anterior C5 corpectomy and arthrodesis. Pre-operative evaluation was facilitated by 3D printed models. The surgical decompression and spinal reconstruction was completed with the use of a patient-specific, custom-made cervical spine locking plate. DISCUSSION: Pre-operative evaluation with 3D printing technology was useful in understanding the patient's complex curve pattern and in designing a patient specific implant. Custom designed implant is a reasonable option to treat cervical myelopathy associated with complex cervical deformity.

Cervical disc arthroplasty for Klippel-Feil syndrome.

OBJECTIVE: Klippel-Feil syndrome (KFS) is a congenital musculoskeletal condition characterized by improper segmentation of the cervical spine. This study aimed to evaluate outcomes of KFS patients who underwent cervical disc arthroplasty (CDA). METHODS: Consecutive patients who underwent anterior cervical surgery were retrospectively reviewed. Those patients with KFS who received discectomy adjacent to the congenitally fused vertebral segments were extracted and grouped into either the fusion or the CDA group. Clinical and radiological evaluations included visual analog scales, Neck Disability Index (NDI), Japanese Orthopedic Association (JOA) scores, C2-7 range of motion (ROM), C2-7 Cobb angle, C2-7 sagittal vertical axis (SVA), and T1-slope. RESULTS: Among 2320 patients, there were 41 with KFS (prevalence = 1.77%), who were younger than the entire cohort (53.3 vs 56.4 years). Thirty KFS patients had adjacent discs and were grouped into the CDA and fusion groups (14 vs 16). Type-I KFS with C3-4 involvement was the most common for both groups (92.8% vs 81.2% with 57% vs 50%, respectively). Post-operation, both groups demonstrated improvement of all the patient reported outcomes. The C2-7 ROM significantly decreased in the fusion group than that of pre-operation (12.8 ± 6° vs 28.1 ± 11.5°). In contrast, the CDA group successfully preserved C2-7 and segmental ROM without additional complications. CONCLUSIONS: KFS is rare (prevalence = 1.77%) among cervical spine surgery patients, and it rarely affects the overall cervical spinal alignment, except that it decreases segmental mobility. CDA is a feasible option for KFS because it not only avoids long-segment fusion but also preserves segmental and global mobility.

The Inescapable Conundrum of Klippel-Feil Syndrome Airway: Case Reports.

Klippel-Feil syndrome (KFS) is a rare congenital anomaly that is characterized by short neck, low posterior hairline, and restricted neck movements, all of which lead to the possibility of a difficult airway. These patients often have associated multiple systemic anomalies, which add to the challenges in anesthetic management. We describe the anesthetic management of 3 patients with KFS: 2 who underwent modified radical mastoidectomy and 1 patient who underwent vaginoplasty at our institute. Careful planning and preparedness for difficult airway and thorough knowledge of associated comorbidities are key to successful management of patients with KFS.

Cervical myelopathy in a child with Sprengel shoulder and Klippel-Feil syndrome.

PURPOSE: Sprengel shoulder, Klippel-Feil syndrome and congenital scoliosis are associated conditions. Cervical myelopathy in a child due to a concomitant omovertebral bar causing posterior cord compression and a hypermobile cervical disc protrusion adjacent to fused cervical segments causing anterior compression at the same level is very rare. We report the presentation, findings, surgical management and results of treatment in such a child. METHODS: A 9-year-old girl with Sprengel shoulder presented with cervical myelopathy (Frankel D). Imaging revealed a bony omovertebral bar connected to the left scapula compressing the spinal cord posteriorly through a lamina defect at C5 resulting in significant cervical stenosis. A hypermobile disc protrusion adjacent to congenitally fused segments resulted in anterior compression at the same level. She was treated surgically with cervical laminectomy and instrumented fusion, excision of the omovertebral bar and modified Woodward procedure for the left Sprengel shoulder. RESULTS: At 2 year follow-up, she had improved neurologically (Frankel E) and there was improved shoulder symmetry and abduction. MRI showed resolution of cervical stenosis. Although there was no significant progression of congenital scoliosis, it will need to be monitored. CONCLUSIONS: Cervical myelopathy due to an omovertebral bar and cervical disc protrusion in a child with Klippel-Feil syndrome and Sprengel shoulder is a rare presentation and can be treated with a single posterior approach addressing both pathologies.

Congenital Fusion of Dens to T3 Vertebra in Klippel-Feil Syndrome.

BACKGROUND: Patients with Klippel-Feil syndrome may present with neurologic complaints such as neck pain, radiculopathy and gait instability. Here we describe surgical management of a patient with congenital fusion of the occipital-cervical region and also block circumferential fusion of dens to T3 with spinal cord compression. This report is the first of its kind with such extensive fusion. CASE DESCRIPTION: Our patient was a 56 year-old female, who presented with neck pain and tingling in all extremities. On exam, she had a short neck, prominent jaw with extremely limited range of motion in neck and features of myelopathy. CT showed fusion of the dens to T3 vertebrae. Patient underwent sub-occipital craniectomy, C1 laminectomy and Occiput to T5 posterior fixation and fusion with neurologic improvement. CONCLUSION: This is the first reported case of Klippel-Feil syndrome with fusion of all cervical vertebrae down to T3. We recommend surgery for advanced cases of myelopathy or radiculopathy due to stenosis and spinal instability.

Medullary Infarction Leading to Locked-In Syndrome Following Lumbar Puncture in a Patient with Basilar Invagination.

BACKGROUND: Lumbar puncture is a common procedure that can be safely performed in most patients. Certain populations may have increased risk for complications following lumbar puncture, but the significance of basilar invagination is often underappreciated. CASE DESCRIPTION: A 45-year-old woman with basilar invagination received multiple lumbar punctures in the workup of acute meningitis. Preprocedural computed tomography was obtained. Following lumbar puncture, the patient developed locked-in syndrome. Magnetic resonance imaging obtained several days later demonstrated severe compression and infarction of the medulla and inferior cerebellum by the odontoid process and ectopic cerebellar tonsils. The patient was transferred but at this point, surgical decompression was not possible. She did not regain significant neurologic function. CONCLUSIONS: Basilar invagination is a risk factor for devastating neurologic complications following lumbar puncture. Awareness of this complication and prompt recognition of its occurrence may prevent future morbidity of lumbar puncture in patients with basilar invagination.

Klippel Feil Syndrome: Clinical Phenotypes Associated With Surgical Treatment.

STUDY DESIGN: Retrospective study. OBJECTIVE: To define distinct Klippel-Feil syndrome (KFS) patient phenotypes that are associated with the need for surgical intervention. SUMMARY OF BACKGROUND DATA: KFS is characterized by the congenital fusion of cervical vertebrae; however, patients often present with a variety of other spinal and extraspinal anomalies suggesting this syndrome encompasses a heterogeneous patient population. Moreover, it remains unclear how the abnormalities seen in KFS correlate to neurological outcomes and the need for surgical intervention. METHODS: Principal component (PC) analysis was performed on 132 KFS patients treated at a large pediatric hospital between 1981 and 2018. Thirty-five variables pertaining to patient/disease-related factors were examined. Significant PCs were included as independent variables in multivariable logistic regression models designed to test associations with three primary outcomes: cervical spine surgery, thoracolumbar/sacral spine surgery, and cranial surgery. RESULTS: Fourteen significant PCs accounting for 70% of the variance were identified. Five components, representing four distinct phenotypes, were significantly associated with surgical intervention. The first group consisted of predominantly subaxial cervical spine fusions, thoracic spine abnormalities and was associated with thoracolumbar/sacral spine surgery. The second group was largely represented by axial cervical spine anomalies and had high association with cervical subluxation and cervical spine surgery. A third group, heavily represented by Chiari malformation, was associated with cranial surgery. Lastly, a fourth group was defined by thoracic vertebral anomalies and associations with sacral agenesis and scoliosis. This phenotype was associated with thoracolumbar/sacral spine surgery. CONCLUSION: This is the first data-driven analysis designed to relate KFS patient phenotypes to surgical intervention and provides important insight that may inform targeted follow-up regimens and surgical decision-making. LEVEL OF EVIDENCE: 3.

Proximal Adjacent Segment Disease Manifesting as Retroodontoid Pseudotumor After Fusion to C2.

BACKGROUND: Although adjacent segment disease (ASD) following anterior cervical fusion has been well described in the literature, there is relative paucity of data on this pathology after posterior cervical fusion. To our knowledge, there have been no reported cases of proximal ASD following posterior fusion to C2. CASE DESCRIPTION: We present 2 cases of proximal ASD presenting as retroodontoid pseudotumors following posterior fusion to C2, both in middle-aged females without history of rheumatologic disease. The first occurred in a patient with Klippel-Feil deformity 13 years after C2-6 posterior cervical fusion, the second in a patient 3 and a half years following revisional circumferential C2-T2 fusion. Both were successfully treated with proximal extension of laminectomy and fusion to the occiput, supplemented in the first patient by transdural decompression of retroodontoid mass. CONCLUSIONS: Proximal ASD can manifest as retroodontoid pseudotumor at variable time intervals following posterior fusion to C2. Clinicians must account for this possibility in their decision making.

Endoscopic Endonasal Approach for Urgent Decompression of Craniovertebral Junction in Syringobulbia.

BACKGROUND: Syringobulbia is an uncommon lesion that occurs in the central nervous system; it is often defined as a pathologic cavitation in the brainstem. The cases with partial blockage of the cerebrospinal fluid pathways at the level of the foramen magnum are more common and the most important group. The most common treatment of syringobulbia is craniovertebral decompression. CASE DESCRIPTION: This paper reports a case of a symptomatic syringobulbia in which an urgent endoscopic endonasal approach to the craniovertebral junction (CVJ) was done to limit bulbo-medullary compression and rapid neurologic deterioration. A 69-year-old man was admitted to the hospital because of acute onset of dysphonia, dysphagia, imbalance, and vomiting. Magnetic resonance imaging revealed a cystic lesion in the brainstem, suggestive of a syringobulbia in Klippel Feil syndrome with CVJ stenosis. CONCLUSIONS: This case report details the successful use of endoscopic endonasal anterior decompression to treat syringobulbia, and adds to the growing literature in support of the endonasal endoscopic approach as a safe and feasible means for decompressing the craniocervical junction, even in the setting of urgency. However, prudent patient selection, combined with sound clinical judgment, access to instrumentation, and intraoperative imaging cannot be overemphasized.

Rare Hereditary Klippel-Feil Syndrome and Arnold-Chiari Malformation Caused by Cervical Spondylotic Myelopathy.

BACKGROUND: A rare case of familial genetic disorder Klippel-Feil syndrome and Arnold-Chiari malformation caused by cervical spondylotic myelopathy was reported here. CASE DESCRIPTION: The reconstruction of stability and spinal cord decompression was achieved by anterior cervical discectomy, fusion, and internal fixation. CONCLUSIONS: Although the disease genetic characteristics have been studied, operation is necessary when it leads to abnormal neurologic symptoms and the surgery of surgery can have a beneficial outcome.