A novel APC mutation defines a second locus for Cenani-Lenz syndrome.

BACKGROUND: Cenani-Lenz syndrome (CLS) is an autosomal recessive condition characterised by a unique pattern of syndactyly, and variable penetrance of renal agenesis and facial dysmorphism. LRP4 mutations were identified in most, but not all patients with this syndrome, suggesting the presence of at least one additional locus. MATERIALS AND METHODS: Clinical characterisation of a new CLS family followed by autozygosity mapping, whole-exome sequencing and global gene expression profiling. RESULTS: We describe an extended consanguineous Saudi family with typical CLS features in addition to significant scoliosis. The disease in this family maps to a single autozygous interval on 5q22.2, in which whole-exome sequencing revealed the presence of a novel splicing mutation in APC that results in ∼ 80% reduction of the wild-type transcript and the creation of an aberrant transcript that predicts a severely truncated APC. This was found to be associated with upregulation of Wnt/ß-catenin signalling. CONCLUSIONS: In a pattern similar to how LRP4 mutations are predicted to negate the protein's antagonistic effect on Wnt/ß-catenin signalling, we propose that reduction of APC may increase the availability of ß-catenin by virtue of impaired degradation, leading to a similar phenotypic outcome. This is the first time APC is linked to a human phenotype distinct from its established role in oncology.

Familial pseudotail, scoliosis and synpolydactyly syndrome.

PURPOSE: This case series describes a novel condition characterized by familial pseudotail associated with scoliosis, and synpolydactyly that has not been previously reported in literature. METHODS: The authors present three siblings and one cousin from the same family living in the northern region of the Arabian Peninsula. All cases presented with pseudotail, scoliosis, and complex synpolydactyly. The authors demonstrated complete clinical and radiological descriptions in addition the detailed performed surgeries. RESULTS: The histopathological result of the resected pseudotail specimens revealed bony lesion covered with thick fibrous tissue and evidence of mature adipocytes within trabecular spaces. CONCLUSIONS: The described cases represent a novel condition that has not been previously reported in the literature. Familial pseudotail scoliosis synpolydactyly syndrome is a newly recognized form of familial pseudotail.

Pediatric Cervical Kyphosis: A Retrospective Multicenter Analysis and Literature Review.

Introduction: This study aims to investigate cervical kyphosis in children, which has gained increasing attention in recent years due to its higher incidence and its association with tumor surgeries, and to shed light on the unique anatomical and biomechanical differences between pediatric and adult populations regarding cervical sagittal alignment. Additionally, it explores the diverse causes and management approaches, which often pose significant challenges. Furthermore, this study presents the management outcomes from three spine centers in the Middle East. Methods: A retrospective analysis was conducted on patient records from 2009 to 2021 in three centers located in Saudi Arabia, Egypt, and Jordan. Demographic and clinical data were collected, imaging studies were reviewed, and various treatment modalities and their corresponding outcomes were documented and analyzed. Additionally, a literature review on pediatric cervical kyphosis and its management was performed. Results: Seventeen patients were included in this study. The average age at presentation was 11.9 years. Among the participants, 14 underwent surgical treatment, 1 was treated with Minerva orthosis, and 2 were observed. The mean follow-up period was 32.4 months. In surgically treated patients, a statistically significant higher degree of correction was achieved when combining anterior and posterior surgeries compared to performing standalone anterior or posterior surgery (P-value = 0.014). Conclusions: Although rare, pediatric cervical kyphosis is a significant condition within the spectrum of pediatric deformities and frequently occurs as a component of syndromes or as a result of iatrogenic factors. Neck pain and myelopathy are the most commonly observed symptoms. Thorough evaluation and complex surgical interventions are typically required for most cases.

Diffuse Sarcoidosis Presenting as Metastatic Malignant Disease-Like Picture: A Case Report.

BACKGROUND: Sarcoidosis is a chronic inflammatory condition characterized by the formation of granulomas, which can impact various organs and tissues throughout the body. It frequently affects the lungs and mediastinal lymph nodes. The presence of multiple lytic lesions in the spine can be concerning, as it may indicate an undiagnosed or advanced metastatic malignancy. We present an unusual and interesting case of sarcoidosis in which the patient had multiple lytic lesions in the vertebrae, which resembled the presentation of metastatic malignant disease. CASE DESCRIPTION: A 46-year-old woman with no known medical history presented to our cancer center complaining of neck pain and bilateral shoulder pain. After conducting extensive investigations, an atypical manifestation of sarcoidosis was identified. The patient was administered corticosteroids, which effectively managed the disease and resulted in a substantial improvement in her symptoms. CONCLUSIONS: Before considering surgical intervention or radiotherapy for cases involving multiple lytic lesions in the spine with an unknown primary cause, it is essential to conduct a comprehensive diagnostic evaluation. This thorough work-up is necessary to establish a clear diagnosis. If the patient's neurological condition permits, a complete assessment can help prevent substantial morbidity. In certain cases, a patient's condition may involve an atypical manifestation of pathologies that are not related to metastatic diseases, suggesting that simpler treatment approaches might be adequate.

Accuracy of percutaneous pedicle screw insertion in spinal fixation of traumatic thoracic and lumbar spine fractures.

BACKGROUND: Percutaneous insertion of pedicle screws was developed as a minimally invasive alternative to the different open spinal procedures. Here, we determined the accuracy of percutaneous pedicle screw insertion. METHODS: For 60 consecutive patients with thoracic/lumbar spine fractures, computed tomography (CT) studies were utilized to assess the accuracy of percutaneous pedicle screw positioning. A screw was identified as cortical encroachment if the pedicle cortex could not be visualized, while Frank penetration was defined if screw trajectory being located obviously outside the pedicle boundaries [e.g., subdivided as minor (<3 mm), moderate (3-6 mm), and severe (>6 mm)]. RESULTS: Sixty patients received 410 pedicle screws placed percutaneously. Of these, 294 screws (71.7%) were ideally placed inside the pedicle. Alternatively, 56 screws (13.6%: 18 cases) showed pedicle encroachment and 60 screws (14.6%: 23 cases) showed pedicle penetration, e.g., 38 (9.2%) minor penetration and 22 (5.3%) were malpositioned (4.8% moderate and 0.5% severe). New postoperative neurological symptoms were identified in two cases (3.3%), where severe screw penetration was identified. CONCLUSION: Percutaneous pedicle screw insertion in 60 patients receiving 410 percutaneously placed pedicle screws yielded 294 ideally placed, 56 showing pedicle encroachment, 60 (14.3%, 23 cases) exhibiting varying degrees of pedicle penetration, with 2 showing new postoperative neurological deficits (severe screw misplacement). Of interest, this technique proved to be more challenging in the thoracic spine. Larger series are needed to better establish the average rate of neurological injuries associated with percutaneous thoracic/lumbar screw misplacement.

A Symptomatic Case of Thoracic Vertebral Hemangioma Causing Lower Limb Spastic Paresis.

BACKGROUND Despite being the most common tumor of the spine, vertebral hemangioma is rarely symptomatic in adults. In fact, only 0.9-1.2% of all vertebral hemangiomas may be symptomatic. When hemangiomas occur in the thoracic vertebrae, they are more likely to be symptomatic due to the narrow vertebral canal dimensions that mandate more aggressive management prior to the onset of severe neurological sequelae. CASE REPORT An 18-year-old male presented to the emergency room with a one-month history of mild to moderate mid-thoracic back pain, radiating to both lower limbs. It was associated with both lower limb weakness and decreased sensation. There was no history of bowel or bladder incontinence. Neurological examination revealed lower limb weakness with power 3/5, exaggerated deep tendon reflexes, bilateral sustained clonus, impaired sensation below the umbilicus, spasticity, and a positive Babinski sign. A CT scan showed a diffuse body lesion at the 8th thoracic vertebra with coarse trabeculations, corduroy appearance, or jail-bar sign. The patient underwent decompression and fixation. Biopsy of permanent samples showed proliferation of blood vessels with dilated spaces and no malignant cells, consistent with hemangioma. Postoperatively, spasticity improved, and the patient regained normal power. CONCLUSIONS Symptomatic vertebral hemangiomas are rare but should be considered as a differential diagnosis. They can present with severe neurological symptoms. When managed appropriately, patients regain full motor and sensory function. Decompression resulted in quick relief of symptoms, which was followed by an extensive rehabilitation program.

Intracardiac Leakage of Cement During Kyphoplasty and Vertebroplasty: A Case Report.

BACKGROUND: Intracardiac leakage of bone cement after kyphoplasty and vertebroplasty is a rare and life-threatening complication. Cortoss, which is an injectable, non-absorbable, polymer composite that is designed to mimic cortical bone, can be used instead of cement. Here, we present the case of a patient with right intra-cardiac Cortoss embolization. CASE REPORT: A 28-year-old man known to have ulcerative colitis since the age of 15 and treated with corticosteroids for more than 4 years and with anti-immune drugs presented to our hospital complaining of back pain and decreased body height due to osteomalacia with failed conservative treatment. Kyphoplasty and vertebroplasty of the thoracic 10-12 and first lumbar vertebrae were done with any complications. Three months later, the patient underwent kyphoplasty and vertebroplasty of lumbar 2-5 vertebrae by injecting Cortoss instead of cement, which was complicated with paravertebral intravascular leakage. We stopped surgery and transferred him to the recovery room, where he had slight chest pain that resolved spontaneously without neurological deficit. Two days later he developed severe chest pain and chest X-ray showed a large white shadow at the right side of the heart and another 2 small shadows just lateral to it. Sudden deterioration of patient status necessitated an emergency echocardiogram, which showed pericardial tamponade and a perforated right ventricle. Aspiration of pericardial blood and emergency open heart surgery were done. He was discharged 4 days later and was followed up at an outpatient clinic. CONCLUSIONS: Cardiac embolism is a serious condition that can complicate vertebral kyphoplasty; it requires a high level of suspicion and immediate action, and may need open heart surgery to save the patient's life.

Brown tumor of the cervical spines: a case report with literature review.

To report a rare case of axis brown tumor and to review literature of cervical spine brown tumor. Brown tumor is a rare bone lesion, incidence less than 5% in primary hyperparathyroidism. It is more common in secondary hyperparathyroidism with up to 13% of cases. Brown tumor reactive lesion forms as a result of disturbed bone remodeling due to long standing increase in parathyroid hormones. Cervical spine involvement is extremely rare, can be confused with serous spine lesions. To date, only four cases of cervical spine involvement have been reported. Three were due to secondary hyperparathyroidism. Only one was reported to involve the axis and was due to secondary hyperparathyroidism. This is the first reported case of axis brown tumor due to primary hyperparathyroidism. A case report of brown tumor is presented. A literature review was conducted by a Medline search of reported cases of brown tumor, key words: brown tumor, osteoclastoma and cervical lesions. The resulting papers were reviewed and cervical spine cases were listed then classified according to the level, cause, and management. Only four previous cases involved the cervical spine. Three were caused by secondary hyperparathyroidism and one was by primary hyperparathyroidism which involved the C6. Our case was the first case of C2 involvement of primary hyperparathyroidism and it was managed conservatively. Brown tumor, a rare spinal tumor that presents with high PTH and giant cells, requires a high level of suspicion.

Pediatric Upper Cervical Spine Giant Cell Tumor: Case Report.

Study Design Case report. Objective The purpose of this work is to report the case of a giant cell tumor involving the second cervical vertebra in a pediatric patient. Surgical management included a combined posterior and anterior cervical approach. There has been no recurrence in 2 years of follow-up. Case Report A 13-year-old girl presented with scoliosis with incidentally lytic lesion involving the second cervical vertebra. The radiologic investigations and biopsy result indicated a giant cell tumor of the bone. A combined posterior and anterior cervical approach was performed to resect the lesion, reconstruct the spine, and restore stability. Two years of follow-up revealed no recurrence of the lesion with stable reconstruction of the spine. Results The lesion was surgically managed for excision and spinal fusion by combining a posterior occipitocervical arthrodesis with an anterior retropharyngeal cervical approach. The final histopathology result confirmed a giant cell tumor of the bone. Conclusions Giant cell tumor involving the second cervical vertebra is uncommon; this tumor can be managed surgically by using a combined posterior and anterior cervical retropharyngeal approach. The presented case was unique in terms of the tumor location, patient age, and surgical management.

The prevalence of wrong level surgery among spine surgeons.

STUDY DESIGN: A questionnaire study. OBJECTIVE: To evaluate the prevalence of wrong level surgery among spine surgeons and their use of preventive measures to avoid its occurrence. SUMMARY OF BACKGROUND DATA: Wrong site surgery fails to improve the patient's symptoms and has medical, emotional, social, and legal implications. Organizations such as the North American Spine Society and the Joint Commission on Accreditation of Healthcare Organizations have established guidelines to prevent wrong site surgery. Spine surgeons' compliance with these guidelines and the prevalence of wrong-level spine surgery have not been investigated previously. METHODS: All members of the American Academy of Neurologic Surgeons (n = 3505) were sent an anonymous, 30-question survey with a self-addressed stamped envelope. RESULTS: A total of 415 (12%) surgeons responded. Sixty-four surgeons (15%) reported that, at least once, they had prepared the incorrect spine level, but noticed the mistake before making the incision. Two hundred seven (50%) reported that they had done 1 or more wrong level surgeries during their career. From an estimated 1,300,000 spine procedures, 418 wrong level spine operations had been performed, with a prevalence of 1 in 3110 procedures. The majority of the incorrect level procedures were performed on the lumbar region (71%), followed by the cervical (21%), and the thoracic (8%) regions. One wrong level surgery led to permanent disability, and 73 cases resulted in legal action or monetary settlement to the patient (17%). CONCLUSION: There is a high prevalence of wrong level surgery among spine surgeons; 1 of every 2 spine surgeons may perform a wrong level surgery during his or her career. Although all spine surgeons surveyed report using at least 1 preventive action, the following measures are highly recommended but inconsistently adopted: direct preoperative communication with the patient by the surgeon, marking of the intended site, and the use of intraoperative verification radiograph.