1/10. cochlear implantation for auditory rehabilitation in Camurati-Engelmann disease.Camurati-Engelmann disease (progressive hereditary diaphyseal dysplasia) is a rare sclerotic bone disease involving the diaphyses of the long bones, skull base, and clavicles. Progressive sclerosis of cranial nerve foramina has been implicated in cranial nerve deficits. including facial nerve palsy, vestibular disturbances, and hearing loss. Two patients with Camurati-Engelmann disease and concomitant sensorineural hearing loss are presented. Both patients were evaluated for cochlear implantation. One patient was successfully implanted after preoperative imaging revealed no involvement of the internal auditory canals. The porous nature of the affected bone, however. necessitated the inactivation of 1 electrode to prevent facial nerve stimulation. A second patient was rejected as a potential implant recipient due, in part, to narrow internal auditory canals and rapidly progressive disease. The otologic manifestations of Camurati-Engelmann disease are reviewed, and issues related to cochlear implantation in this rare disease are discussed.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
2/10. MR imaging features of craniodiaphyseal dysplasia.We report the magnetic resonance (MR) imaging findings in a 4-year-old girl with characteristic radiographic and computed tomography (CT) features of craniodiaphyseal dysplasia. MR imaging exquisitely depicted cranial nerve compression, small foramen magnum, hydrocephalus, and other intracranial complications of this syndrome. A syrinx of the cervical spinal cord was demonstrated. We suggest that MR imaging become a routine component of the evaluation of these patients.- - - - - - - - - - ranking = 0.25keywords = nerve (Clic here for more details about this article) |
3/10. Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.Progressive diaphyseal dysplasia (PDD) (Camurati-Engelmann disease) is an autosomal dominant craniotubular dysplasia characterized by hyperostosis and sclerosis of the diaphyses of the long bones and the skull. Mutations in transforming growth factor beta-1 (TGFB1) were recently found in patients with PDD. We report on a four-generation pedigree with seven individuals affected by PDD, linkage and mutational analysis results, and review the literature. This pedigree demonstrates the autosomal dominant inheritance pattern, remarkable variation in expressivity, and reduced penetrance. The most severely affected individual had progression of mild skull hyperostosis to severe skull thickening and cranial nerve compression over 30 years. His carrier father remained asymptomatic into his ninth decade and had no radiographic hyperostosis or sclerosis of the bones. Symptomatic relatives presented with lower limb pain and weakness. They were initially diagnosed with a variety of other conditions. Two of the symptomatic individuals were treated successfully with prednisone. We genotyped 7 markers from chromosome region 19q13.1-13.3 in 15 relatives and confirmed linkage to this region in this family. We screened the TGFB1 gene for mutations and identified a missense mutation resulting in an R218H substitution in the affected individuals, the asymptomatic obligate carrier, and another unaffected relative. We genotyped the family for seven known TGFB1 polymorphisms and a novel TAAA tetranucleotide repeat in intron 1. These polymorphisms did not appear to account for the variability in disease severity in this family. Our review illustrates how the disorder can significantly compromise health. Cranial involvement, which occurs in 61% of patients, can be severe, entrapping cranial nerves or causing increased intracranial pressure. Therapy with corticosteroids should be attempted in all symptomatic patients.- - - - - - - - - - ranking = 0.5keywords = nerve (Clic here for more details about this article) |
4/10. 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 = 0.25keywords = nerve (Clic here for more details about this article) |
5/10. Bilateral visual loss in craniodiaphysial dysplasia.PURPOSE: To report a rare case of craniodiaphysial dysplasia (CDD) that resulted in a profound loss of vision in both eyes. DESIGN: Observational case report. methods: A 2-year-old girl presented with midfacial anomaly. Marked thickening and sclerosis in the calvaria and facial bones were detected on the plain x-rays, which were compatible with CDD. Two years later, she visited our clinic because of visual loss in both eyes. RESULTS: The visual acuity was light perception in both eyes. The optic disk swelling with temporal pallor was observed in her both eyes. Orbital computed tomography scan revealed near-total obliteration of the optic canal in both eyes. CONCLUSIONS: CDD is a severe bone disorder characterized by massive generalized hyperostosis and sclerosis, especially involving the facial bones. Bony encroachment on the cranial foramina causes optic nerve compression, and this may lead to progressive visual impairment and ultimately to blindness.- - - - - - - - - - ranking = 0.25keywords = nerve (Clic here for more details about this article) |
6/10. Camurati-Engelmann disease (progressive hereditary craniodiaphyseal dysplasia). Case report.In a patient with Camurati-Engelmann disease, orbital and optic nerve decompression resulted in improvement of papilledema. Subsequent x-ray films of the optic canals, however, revealed reconstitution of osseous optic canals bilaterally, and papilledema has returned in one eye. Definitive treatment of this dysplastic metabolic bone disorder rests in the control of rapid abnormal bone formation.- - - - - - - - - - ranking = 0.25keywords = nerve (Clic here for more details about this article) |
7/10. Neurotologic manifestations of the osteopetroses.facial nerve paralysis or symptoms of audiovestibular nerve dysfunction may be the first indication of one of the group of bone diseases known as the osteopetroses. We describe three such patients. The pathophysiology of these diseases and the treatment of the resulting symptoms of facial and audiovestibular nerve dysfunction are discussed.- - - - - - - - - - ranking = 0.75keywords = nerve (Clic here for more details about this article) |
8/10. temporal bone findings in craniodiaphyseal dysplasia.To our knowledge, this is the first description of the histopathology of the temporal bone from a case of craniodiaphyseal dysplasia. The air spaces of the mastoid, external auditory canal, and middle ear cavity are reduced by hyperostotic bone. The ossicles are also deformed by the bony overgrowth. Anomalous ossicles with hyperostosis could affect the air conduction. Even though the internal auditory canal is somewhat elongated and narrow, no labyrinthine abnormalities can be attributed to the abnormal bone. Facial nerves run through abnormal courses but the geniculate ganglion cells are not involved. The VIIIth nerve dysfunction in this case could be due to mechanical damage of the nerve fibers and/or impaired vascular supply by the hyperostosis.- - - - - - - - - - ranking = 0.75keywords = nerve (Clic here for more details about this article) |
9/10. The craniotubular bone modeling disorders: a neurosurgical introduction to rare skeletal dysplasias with cranial nerve compression.The craniotubular bone modeling disorders are a group of skeletal dysplasias which involve predominantly the skull and long bones. The cranial involvement includes both external facial deformities and internal bony overgrowth about the cranial foramina and fissures. The latter commonly leads to cranial nerve compression, particularly of the optic nerve. craniotomy and cranial nerve decompression can give substantial benefit to selected patients with these diseases but the severe bony abnormalities create technical problems which prevent surgery in some extreme cases. These disorders are genetically determined but the basic pathophysiologic mechanism has been delineated for only a few types and non-surgical treatment remains supportive.- - - - - - - - - - ranking = 1.75keywords = nerve (Clic here for more details about this article) |
10/10. vestibular nerve dysfunction and decompression in Engelmann's disease.vestibular nerve dysfunction as the major neuro-otological symptom in one of the osteopetrosis group of bone disorders is unusual. We describe a patient with Engelmann's disease who presented in this manner and who benefited from an eighth nerve decompression procedure. Surgical decompression of the internal auditory meatus to relieve vertigo has to our knowledge not been previously reported in this condition.- - - - - - - - - - ranking = 1.5keywords = nerve (Clic here for more details about this article) |
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