1/12. Hyperostotic macrodactyly and lipofibromatous hamartoma of the median nerve associated with carpal tunnel syndrome.A new case with 14-year follow-up of an extremely rare variety of congenital hand macrodactyly is presented. The disease characteristically presents a diffuse proliferation of fibrofatty tissue, but in this special type, osteocartilaginous deposits around the joints can also be found. The case presented included the troublesome feature of a lipofibromatous hamartoma in the median nerve at the wrist and its branches producing carpal tunnel syndrome. The patient obtained benefit from carpal tunnel release and epineurolysis. The hyperostotic development was managed with conservative resection of the periarticular osteochondromas. The literature reviewed suggests that the hyperostotic cases of macrodactyly do not differ from general cases of this congenital condition, except for the osteochondral deposits. These tumours develop during adulthood or after previous trauma, before epiphyseal closure.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
2/12. Stenosis of the cervical canal in craniodiaphyseal dysplasia.Craniodiaphyseal dysplasia (CDD) is a rare sclerosing bone disorder, the severity of which depends on its phenotypic expression. hyperostosis can cause progressive foraminal stenosis leading to palsy of cranial nerves, epilepsy and mental retardation. We report the only case of CDD in an adult, with stenosis of the cervical canal leading to quadriparesis as a late complication of hyperostosis, and describe the problems associated with its treatment. Although the syndrome is rare, its pathophysiological and therapeutic considerations may be applicable to the management of stenosis of the spinal canal in other hyperostotic bone disorders.- - - - - - - - - - ranking = 0.2keywords = nerve (Clic here for more details about this article) |
3/12. Autosomal dominant craniometaphyseal dysplasia with atypical features.Craniometaphyseal dysplasia (CMD) is a rare genetic disorder of bone modelling characterised by hyperostosis and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses. Clinically, autosomal dominant (AD) CMD is characterised by facial distortion and cranial-nerve compression. The goals of surgical treatment for AD CMD are cosmetic recontouring of the sclerotic craniofacial bones, correction of nasal obstruction and correction or prevention of neurological manifestations. We describe the successful correction of AD CMD craniofacial manifestations in an individual with atypical findings, and outline an approach for correcting the craniofacial deformities associated with this rare disorder.- - - - - - - - - - ranking = 0.2keywords = nerve (Clic here for more details about this article) |
4/12. Case report: bilateral vocal cord paralysis caused by cervical spinal osteophytes.Thyroid and cervical surgery, tracheal intubation, trauma and neurodegenerative and neuromuscular diseases may cause bilateral vocal cord paralysis. There are only a few reported cases of bilateral cord paralysis associated with cervical hyperostosis in the English literature. We report the MR and CT findings of a case of bilateral vocal cord paralysis caused by cervical spinal osteophytes compressing the recurrent laryngeal nerves.- - - - - - - - - - ranking = 0.2keywords = nerve (Clic here for more details about this article) |
5/12. Eighth cranial nerve dysfunction in hyperostosis cranialis interna.hyperostosis cranialis interna is a recently described autosomal dominant bone disorder characterised by hyperostosis and osteosclerosis confined to the skull, especially the calvarium and the skull base. In the affected family members, we found variable simultaneous involvement of cranial nerves I, II, VII and VIII from late childhood onwards, most likely due to nerve entrapment. Auditory and vestibular functions were followed in 3 young family members for 8 years. At the first examination, pure tone audiograms were normal in all 3 cases and case 1 showed no caloric response in the right ear. During follow-up, this ear developed severe hearing loss progressing to deafness. The left ear showed transient sensorineural hearing loss and a temporarily diminished caloric response. Similar observations were made in case 2. Both cases showed abnormal brain stem auditory-evoked responses during and after the sudden hearing loss, in which initially only wave I was preserved and later on wave V returned with significantly prolonged I-V interval. The latter phenomenon was also observed in case 3 on both sides in the presence of normal audiograms during and after transient unilateral facial nerve paralysis, which was accompanied by bilateral diminished caloric responses.- - - - - - - - - - ranking = 1.4keywords = nerve (Clic here for more details about this article) |
6/12. 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 = 0.2keywords = nerve (Clic here for more details about this article) |
7/12. 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 = 0.2keywords = nerve (Clic here for more details about this article) |
8/12. Entrapment neuropathy of the optic nerve due to hyperostosis associated with congenital anemia.The authors report on the case of a 14-year-old boy who presented with bilateral visual impairment due to optic canal stenosis caused by hyperplasia of the bone marrow arising from anemia. The patient had hereditary hemolytic anemia with unstable hemoglobin of the Christchurch type. This congenital form of anemia caused hyperplasia of the bone marrow as well as hyperostosis of the entire calvarial bone, which in turn led to optic canal stenosis. The patient underwent surgical decompression of the optic canal, resulting in significant improvement in visual acuity. Pathological findings in the calvarial bone indicated hypertrophic bone marrow with no other specific features such as neoplastic pattern or fibrous dysplasia. With the exception of objective hearing impairment, no other significant cranial neuropathy has been detected thus far. On reviewing the published literature, this case was found to be the first in which hyperostosis due to congenital anemia resulted in symptomatic entrapment neuropathy of the optic nerve. The authors concluded that surgical decompression effectively improves visual acuity.- - - - - - - - - - ranking = 1keywords = nerve (Clic here for more details about this article) |
9/12. 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 = 0.2keywords = nerve (Clic here for more details about this article) |
10/12. 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 = 0.2keywords = nerve (Clic here for more details about this article) |
| | Next -> |