1/6. dysphonia and cervical hyperostosis: a case report.We report a case of a 77-year-old man with a 3-year-history of progressive dysphonia, without dysphagia. His voice sounded breathy; the pitch and the loudness were low. He complained of a few episodes of voice breaking. At laryngostroboscopy the adduction motion of the left true vocal cord was slower than the contralateral one. A cervical spine X-ray demonstrated a generalized vertebral osteophytosis and a 3-centimeter-long anterior osteophytic spur, originating from C6. Evaluation with barium swallow showed a dislocation of the inferior cervico-oesophagus to the right, with a preservation of its lumen. Cervical-thoracic computed tomography showed a mild pressure produced by the osteophyte on the thyroid cartilage and the presence of the radiological criteria for Forestier's disease. Therefore, the presence of dysphonia in older adults without any primary laryngeal cause, indicates a radiological study of the cervical-thoracic region, in order to discover cervical osteophytosis.- - - - - - - - - - ranking = 1keywords = pressure (Clic here for more details about this article) |
2/6. A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene.In this study, a brother and sister of German origin are described with a possible diagnosis of van Buchem disease, a rare autosomal recessive sclerosing bone dysplasia characterized by a generalized hyperostosis of the skeleton mainly affecting the cranial bones. Clinically, patients suffer from cranial nerve entrapment potentially resulting in facial paresis, hearing disturbances, and visual loss. The radiological picture of van Buchem disease closely resembles sclerosteosis, although in the latter patients, syndactyly, tall stature, and raised intracranial pressure are frequently observed, allowing a differential diagnosis with van Buchem disease. Previous molecular studies demonstrated homozygous loss-of-function mutations in the SOST gene in sclerosteosis patients while a chromosomal rearrangement creating a 52-kb deletion downstream of this gene was found in Dutch patients with van Buchem disease. This deletion most likely suppresses SOST expression. Sclerostin, the SOST gene product, has been shown to play a role in bone metabolism. The two siblings reported here were evaluated at the molecular level by carrying out a mutation analysis of the SOST gene. This resulted in the identification of a novel putative disease-causing splice site mutation (IVS1 1 G-->C) homozygously present in both siblings.- - - - - - - - - - ranking = 1keywords = pressure (Clic here for more details about this article) |
3/6. Aggressive cranial vault decompression for cranial hyperostosis: technical case report of two cases.OBJECTIVE AND IMPORTANCE: Camurati-Engelmann's disease, also known as progressive diaphysial dysplasia, is a disorder of the bone metabolism. Neurological manifestations of progressive diaphysial dysplasia include cranial nerve dysfunction, generalized weakness, cerebellar herniation, and increased intracranial pressure. In the past, surgical intervention has been of limited and temporary benefit. We present two patients with cranial hyperostosis secondary to Camurati-Engelmann's disease who were treated successfully with a single surgery involving a combination of multiple craniotomies for cranial vault decompression. CLINICAL PRESENTATION: Two patients presented with signs and symptoms of increased intracranial pressure secondary to Camurati-Engelmann's syndrome. Radiological workup revealed marked cranial hyperostosis. INTERVENTION: The patients underwent aggressive cranial vault decompression. Multiple craniotomies were performed, and the inner table was then drilled down until the bone was 1 cm thick. CONCLUSION: Effective surgical options are needed for clinically significant cranial hyperostosis. In an effort to further define operative management in these patients, we describe a single, aggressive surgical procedure that may be used for successful cranial decompression.- - - - - - - - - - ranking = 2keywords = pressure (Clic here for more details about this article) |
4/6. hemifacial spasm associated with focal bone hyperostosis.We present a very rare case of hemifacial spasm in a 58-year-old patient who was predisposed by focal temporal bone hyperostosis. The patient presented with a 6-year history of progressive left hemifacial spasm, unresponding to the conservative treatment. She underwent a typical microvasular decompression procedure, during which an unusual local hyperostosis of the interior surface of the left temporal bone was found, distorting the adjacent AICA and causing significant pressure on the facial nerve. The postoperative course was uneventful and in the 24-month follow up, the patient is spasm free.- - - - - - - - - - ranking = 1keywords = pressure (Clic here for more details about this article) |
5/6. continuous positive airway pressure is effective in treating upper airway oedema.The case of a patient with diffuse idiopathic skeletal hyperostosis (DISH) and upper airway oedema, is described. The patient presented with alveolar hypoventilation and obstructive apnoeas during sleep. Intravenous steroids (methylprednisolone, 160 mg.day-1) for 5 days did not reduce the oedema. However, it was rapidly reversed by the use of nasal continuous positive airway pressure (nCPAP). In addition, daytime pulmonary gas exchange was improved and sleep apnoea abolished. This beneficial effect made tracheostomy unnecessary. This case report suggests that CPAP can be a potentially useful therapeutic alternative to tracheostomy in the clinical management of upper airway oedema.- - - - - - - - - - ranking = 5keywords = pressure (Clic here for more details about this article) |
6/6. Intracranial and extracranial reduction osteoplasty for craniodiaphyseal dysplasia.Craniodiaphyseal dysplasia is a rare, sporadic form of craniotubular bone dysplasia, characterized by massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, leading to severe deformity. The clinical course is typically characterized by progressive encroachment of the craniofacial foramina and brain by the relentless deposition of bone. Compression of cranial nerves, the foramen magnum, and intracranial contents commonly leads to blindness, loss of hearing, and death. This report describes a unique case of craniodiaphyseal dysplasia manifesting with asymmetric craniofacial and axial hyperostosis. The tubular bones demonstrated the characteristic diaphyseal endostosis, undertubulation, and relative overgrowth on the involved side. Significant brain compression with signs and symptoms of increased intracranial pressure was managed successfully with decompressing craniectomy at age 12 years, enlarging the anterior and middle fossae. Calvarial thickness measured nearly 4 cm. Further calvarial, midfacial, and mandibular recontouring were performed 6 and 22 months later. Follow-up in our case indicates that close observation is mandatory to manage further progression of the disease.- - - - - - - - - - ranking = 1keywords = pressure (Clic here for more details about this article) |