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.

Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia.

Elsahy-Waters syndrome (EWS; OMIM#211380) is a rare autosomal recessive disorder that is caused by loss-of-function variants in CDH11, which encodes cadherin 11. EWS is characterized by brachycephaly, midface hypoplasia, characteristic craniofacial morphology, cervical fusion, cutaneous syndactyly in 2-3 digits, genitourinary anomalies, and intellectual disability. To the best of our knowledge, there have been only six patients of molecularly confirmed EWS. We report the first patient of EWS in East Asia in a Japanese man with a novel splice site homozygous variant of CDH11. We reviewed the clinical and molecular findings in previously reported individuals and the present patient. In addition to the previously reported clinical features of EWS, the present patient had unreported findings of atlantoaxial instability due to posterior displacement of dens, thoracic fusion, thoracic butterfly vertebra, sacralization of the lumbar vertebra (L5), and multiple perineural cysts. The spinal findings in this patient could represent a new spectrum of skeletal phenotypes of EWS. It remains to be clarified whether the multiple perineural cysts in the patient were associated with EWS or coincidental. The current observation might contribute to an expanded understanding of the clinical consequences of loss-of-function of cadherin 11.

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.

Deep Sedation Technique for Dental Rehabilitation of a Patient with Klippel-Feil Syndrome.

Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in their fusion. The clinical triad of the syndrome consists of short neck, low posterior hairline, and limited neck movement, although fewer than 50 percent of patients demonstrate all three clinical features. The short neck and its immobility and instability present a significant challenge for endotracheal intubation. The purpose of this paper is to describe the management of a 13-year-old patient with KFS, extensive dental caries, and restricted mouth opening using a deep sedation technique in the operating room, which allowed successful completion of dental treatment.

Misdiagnosed syrinx in a patient with neuroschisis and Klippel-Feil syndrome: case report.

INTRODUCTION: Patients with Klippel-Feil syndrome can present with a myriad of symptoms and imaging findings. Herein, we present a case of Klippel-Feil syndrome that was initially misdiagnosed with syringomyelia. We review this case and discuss the imaging findings. CONCLUSIONS: Neuoroschisis should be suspected in patients with Klippel-Feil syndrome and differentiated from syringomyelia.

An MRspec database query and visualization engine with applications as a clinical diagnostic and research tool.

PURPOSE: Proton magnetic resonance spectroscopy (MRspec), one of the very few techniques for in vivo assessment of neuro-metabolic profiles, is often complicated by lack of standard population norms and paucity of computational tools. METHODS: 7035 scans and clinical information from 4430 pediatric patients were collected from 2008 to 2014. Scans were conducted using a 1.5T (n=3664) or 3T scanner (n=3371), and with either a long (144ms, n=5559) or short echo time (35ms, n=1476). 3055 of these scans were localized in the basal ganglia (BG), 1211 in parieto-occipital white matter (WM). 34 metabolites were quantified using LCModel. A web application using MySQL, Python and Flask was developed to facilitate the exploration of the data set. RESULTS: Already piloting the application revealed numerous insights. (1), N-acetylaspartate (NAA) increased throughout all ages. During early infancy, total choline was highly varied and myo-inositol demonstrated a downward trend. (2), Total creatine (tCr) and creatine increased throughout childhood and adolescence, though phosphocreatine (PCr) remained constant beyond 200days. (3), tCr was higher in BG than WM. (4), No obvious gender-related differences were observed. (5), Field strength affects quantification using LCModel for some metabolites, most prominently for tCr and total NAA. (6), Outlier analysis identified patients treated with vigabatrin through elevated γ-aminobutyrate, and patients with Klippel-Feil syndrome, Leigh disease and L2-hydroxyglutaric aciduria through low choline in BG. CONCLUSIONS: We have established the largest MRSpec database and developed a robust and flexible computational tool for facilitating the exploration of vast metabolite datasets that proved its value for discovering neurochemical trends for clinical diagnosis, treatment monitoring, and research. Open access will lead to its widespread use, improving the diagnostic yield and contributing to better understanding of metabolic processes and conditions in the brain.

Klippel-Feil syndrome and levo-looped transposition of the great arteries.

Klippel-Feil syndrome is a skeletal disorder characterised by low hairline and a short neck due to abnormal fusion of two or more cervical vertebrae. Although congenital heart and lung defects are infrequent, some abnormalities such as cor triatriatum, coarctation of the aorta, total anomalous pulmonary venous connection, or lung agenesis have been reported. The challenge of recognising Klippel-Feil syndrome lies in the fact that there is an association of this syndrome with other significant conditions such as skeletal, genitourinary, neurological, ear, and some cardiac defects. We report a Klippel-Feil syndrome type III 14-year-old patient with a levo-looped transposition of the great arteries. In addition, the patient had agenesis of the left upper-lung lobe.

[RESEARCH PROGRESS OF KLIPPEL-FEIL SYNDROME WITH EAR MALFORMATION].

OBJECTIVE: To summarize the research progress in clinic, development, and genetics of the Klippel-Feil syndrome and its primary ear deformity. METHODS: The related literature at home and abroad concerning the Klippel-Feil syndrome with ear malformation was reviewed, analyzed, and summarized. RESULTS: The clinical manifestation and classification of Klippel-Feil syndrome are complicated. As one of the most important accompany malformations, ear deformity mainly leads to hearing impairment and abnormal appearance. However, it is still unclear exactly how the ear deformity forms in Klippel-Feil syndrome, and there is little deep study on the internal connection between the ear deformity and other malformations. The premise for the treatment of Klippel-Feil syndrome includes accurate diagnoses and comprehensive disease assessment, and multidisciplinary collaboration will be the important direction of clinical practice in the future. CONCLUSION: Ear malformation is one of the most important congenital dysplasias in the Klippel-Feil syndrome. Its etiology should be based on research in the development and genetic mechanism. And its diagnosis and treatment should be followed by multidisciplinary collaboration. It is important to pay attention to identifying with ear malformation in other syndromes as well.

[Intubation of a first time parturient with Klippel-Feil syndrome].

We describe a case of a first time parturient with Klippel-Feil syndrome (KFS). KFS is defined by fusion of cervical vertebrae and the clinical triad of low posterior hairline, short wide neck and limited neck movement. KFS represents a complex challenging anaesthesiologic condition due to limited movement of the neck and the risk of irreversible neurologic sequelae if manipulated, as well as unpredictable effect of neuroaxial anaesthesia. We recommend awake fiberoptic intubation for airway management in this rare disorder and stress the necessity of early anaesthesiologic assessment in any cervical spine disorder that might need airway management.

Severe Klippel-Feil syndrome with Mondini malformation of inner ear.

Klippel-Feil syndrome is defined as the fusion of cervical vertebra with associated congenital anomalies but was rarely reported to be associated with Mondini Malformation. We report a newborn girl with severe neck extension, computed tomography (CT) of the neck after birth showed fusion of the fifth, sixth, and seventh cervical vertebrae, compatible with Klippel-Feil Syndrome and CT temporal bone showed choclear dysplasia with incomplete number of turns that is compatible with Mondini Malformation.

Síndrome de Klippel-Feil, una cervicalgia poco frecuente / Klippel-Feil syndrome, a rare cervicalgia

La cervicalgia se define por la presencia de dolor en la región del cuello, pudiendo irradiarse o no a hombros, miembros superiores y/o espalda. Representa un motivo de consulta frecuente en atención primaria: más de la mitad de la población general presentará en algún momento de su vida dolor cervical. El síndrome de Klippel-Feil es una causa excepcional de cervicalgia. Es una enfermedad congénita del grupo de las denominadas malformaciones de la charnela craneocervical. Es una entidad nosológica compleja caracterizada por la fusión de 2 o más vértebras, pudiendo asociar también otras malformaciones y alteraciones óseas y viscerales. La tríada clínica característica consiste en cuello corto, implantación baja del cabello en la región occipital y limitación de la movilidad cervical. No obstante, dicha clínica está presente en menos del 50% de los pacientes (AU)

We present the case of a patient with chronic low back pain with an unfavourable progression despite the prescribed pharmacological treatment. The patient had symptoms associated with compression of the sciatic nerve in an atypical area. As it passed through the piriformis muscle, it was diagnosed as piriformis muscle syndrome. This diagnosis was based on the clinical signs and symptoms and the determination of the tests performed, with the imaging tests being absolutely normal. Treatment is basically with non-steroidal anti-inflammatory drugs, muscle relaxants and stretching exercises of this muscle (AU)

Elective cesarean delivery in a parturient with Klippel-Feil syndrome.

Klippel-Feil syndrome is defined by congenital fusion of two or more cervical vertebrae and can be associated with abnormalities in multiple systems. Management poses challenges to the anesthesiologist, particularly in pregnancy. Cervical spine immobility and instability can make the management of the airway fraught with danger and vertebral column distortion may make neuraxial anesthesia unreliable. We present the management of a nulliparous patient with features consistent with Type I Klippel-Feil syndrome undergoing elective cesarean delivery. The patient had a potentially difficult airway and features consistent with an unstable cervical spine and severe thoracic and lumbar scoliosis. A combined spinal-epidural technique was used which initially provided satisfactory anesthesia, but ultimately proved inadequate despite use of the epidural component. Satisfactory anesthesia for surgery was eventually achieved with the addition of an intravenous remifentanil infusion. We review previous case reports discussing anesthetic management of parturients with Klippel-Feil syndrome, and describe the challenges encountered and lessons learned from management of this case.

Congenital variations of the upper cervical spine and their importance in preoperative diagnosis. A case report and a review of the literature.

Several variations of the bony and vascular anatomy around the first and second cervical vertebrae have been reported. Failure to recognise these variations can complicate operations on the upper cervical spine. We present a patient with recent onset of cervical myelopathy due to stenosis at the C3-4 level. Preoperative evaluation identified Klippel-Feil syndrome with cervical fusion of C2-3, aplasia of posterior arch of C1, anomalous vertebral artery course and a "ponticulus posticus" of C2. The combination of these variations in a Klippel-Feil syndrome patient has never been reported. Thus, we recommend a thorough preoperative imaging evaluation, with CT scan and CT angiography or DSA, in addition to plain radiographs. This evaluation is imperative, before a cervical spine surgery, allowing a better understanding of the anatomy, in order to minimise the risks of misplacement of cervical instrumentation especially in such patients.

Wildervanck's syndrome and mirror movements: a congenital disorder of axon migration?

Cell outgrowth and migration in the developing nervous system result from guidance cues, whose molecular bases and clinical correlates are only partly known. We describe a patient with brain stem malformation, paroxysmal left sided lacrimation when eating ("crocodile tears") and mirror movements in addition to Wildervanck's cervico-oculo-acusticus (COA) syndrome, which encompasses Klippel-Feil anomaly, congenital hearing loss and Duane's syndrome. The unique symptom constellation has not been reported in that combination before and can be discussed in the context of congenital disordered axonal migration based on dysfunction of signalling pathways. However, mutations in some recently discovered genes, associated with single findings also present in our patient, were not found. Therefore, we suppose that the disturbance of an as yet unknown regulatory factor may explain the congenital malformation syndrome of our patient. In general, only a few human disorders have yet been found to result from defects in axon guidance. Nevertheless, disorders of axon guidance can certainly be regarded as a new category of neurodevelopmental disorders.

The association of Chiari type III malformation and Klippel-Feil syndrome with mirror movement: a case report.

Basically Chiari type III malformation is a combination of encephalocele with of brain stem and cerebellar abnormality. Although Klippel-Feil syndrome may be associated with other congenital anomalies, this syndrome is mainly associated with varying degrees of cervical vertebral fusion anomalies. In this study, we reported the association of Chiari type III malformation and Klippel-Feil syndrome with the mirror movement by imaging studies. The main involvement in Chiari type III malformation and Klippel-Feil syndrome is in the craniocervical junction. In such a small area, the emergence of these complex pathologies in our case was remarkable. Our patient had reconstruction surgery of the posterior fossa and his encephalocele was excised successfully. Hydrocephaly and/or deterioration in the functions of other posterior fossa structures have not been seen in the patient's follow-up.

Un caso raro de cervicalgia crónica: el síndrome de Klippel-Feil / A rare case of chronic cervical pain: the Klippel-Feil syndrome

Mujer de 36 años con dolor cervical mecánico y hombro izquierdo irradiado por extremidad superior, 4° y 5° dedos mano izquierda, crónico y discreta pérdida de fuerza y sensibilidad. No hay hipoacusia, síntomas urinarios ni cardiológicos. Exploración: orejas, implantación del pelo y longitud cervical normal. Dolor al palpar apófisis espinosas de vértebras y músculos cervicales. Disminución de sensibilidad táctil y dolorosa en zona cubital de mano izquierda, 4° y 5° dedos. Rx C. Cervical: fusión de vertebras C3-C4 y C7-D1. RMN C. Cervical: Fusión de vertebras C2-C3 y T1-T2. EMG: datos de atrapamiento del mediano en Túnel del Carpo. Diagnóstico: síndrome de Klippel-Feil. El síndrome de Klippel-Feil es una enfermedad rara, congénita del grupo de las malformaciones de la charnela craneocervical, que consiste en la fusión de dos o más vértebras cervicales; asociado a veces a defectos en sistema genitourinario, nervioso, cardiopulmonar y pérdida auditiva (AU)

A 36 year-old woman, with mechanical neck and left shoulder pain radiating to the arm, 4th and 5th fingers of the left hand, with a chronic and modest loss of strength and sensitivity. No loss of hearing; no urinary or cardiological symptoms. Physical Examination: Ears, hair implantation and neck length normal. Pain on palpation of vertebral spine apophyses and neck muscles. A decrease in tactile sensitivity and painful in the left hand cubital area, 4th and 5th fingers. Rx Spinal Column: Fusion of vertebrae C3-C4 y C7-D1. NMR Spinal Column: Fusion of vertebrae C2-C3 y T1-T2. EMG: signs of median nerve trapping in Carpal Tunnel. Diagnosis: Klippel-Feil Syndrome. Klippel-Feil Syndrome is a rare congenital disease of the group of craniocervical hinge malformation, which consists of the fusion of two or more vertebrae. It is occasionally associated with genitourinary system, nerve, cardiopulmonary defects and hearing loss (AU)

Atlantoaxial rotatory fixation in the setting of associated congenital malformations: a modified classification system.

STUDY DESIGN: A case report. OBJECTIVE: To raise awareness of the development of atlantoaxial rotatory fixation (AARF) in the setting of congenital vertebral anomalies/malformations. SUMMARY OF BACKGROUND DATA: Klippel-Feil Syndrome (KFS) is a complex, heterogeneous condition noted as congenital fusion of 2 or more cervical vertebrae with or without spinal or extraspinal manifestations. Although believed to be a rare occurrence in the population, KFS may be underreported. Proper diagnosis of KFS and other congenital conditions affecting the spine is imperative to devise proper management protocols and avoid potential complications resulting from the altered biomechanics associated with such conditions and their abnormal vertebral morphology. Craniovertebral dislocation and AARF may cause severe cervicomedullary and spinal cord compression and could thereby be potentially fatal, especially in patients with KFS who present with congenitally-associated comorbidities. METHODS: A 13-year-old boy with Chiari type I malformation, craniofacial abnormalities, and other irregularities underwent thoracolumbar spine surgery for his scoliosis curve correction at another institution, which immediately following surgery he became a quadriparetic. The initial preoperative assessment of his cervical spine was limited and the associated KFS was initially undiagnosed. At 14 years of age, he presented to our clinic with an ASIA-C spinal cord injury. Plain radiographs, normal and 3-dimensional reformatted computed tomographs (CT), and magnetic resonance imaging (MRI) noted assimilation of the patient's occiput to the atlas (occipitalization) with congenital fusion of C2-C3, indicative of KFS, and the presence of anterior craniovertebral dislocation with a Fielding and Hawkins type II AARF. Closed reduction of the craniovertebral dislocation was noted, but his atlantoaxial rotatory subluxation was nonresponsive and fixed (AARF). As such, at the age of 14, the patient underwent posterior instrumentation and fusion from the occiput to C4 to maintain reduction of thecraniovertebral dislocation and reduce his AARF. RESULTS: At 9 months postoperative follow-up of his craniovertebral surgery, the instrumentation remained intact, reduction of the atlantoaxial rotatory subluxation was maintained, and posterior bone fusion was noted. Neurologically, he remained an ASIA-C without any substantial return of function. CONCLUSION: This report raises awareness for the need of a thorough evaluation of the cervical spine to determine patients at high risk for craniovertebral dislocation and atlantoaxial rotatory subluxation, primarily in the context of KFS or other congenital conditions. Three-dimensional CT and MR imaging are ideal radiographic methods to determine the presence and extent of craniovertebral dislocation, AARF, and of abnormal vertebral anatomy/malformations. In addition, the authors propose a modification to the Fielding and Hawkins classification of AARF to include variants and subtypes that account for abnormal anatomy and congenital anomalies/malformations.

Massive diminution of the cervical spine: one case report.

The authors report a 13-year-old female with shunted hydrocephalus who when evaluated for neck pain, was found to have not only fusion of cervical vertebrae but significant diminution of the cervical spine. Following our review of the classification of KFA and our case report, the current interpretation of Klippel and Feil's original description of KFA should be re-evaluated, and/or a new class of KFA used, that of complete or partial cervical vertebrae agenesis and associated abnormalities, should be considered in the classification of this anomaly.