Cases reported "Neurofibromatosis 2"

Filter by keywords:



Filtering documents. Please wait...

1/66. Bilateral facial nerve schwannomas.

    facial nerve schwannoma is an uncommon tumor and bilateral facial nerve tumors are extremely rare. A case is presented in which neuromas affecting the intra-canalicular and labyrinthine portions of both facial nerves occurred. Radiologic assessment demonstrated the origin of these tumors. Eventual tumor involvement of the sole functioning cochlea resulted in the development of total hearing loss. Management entailed symptomatic care and surgical resection. Auditory rehabilitation was attempted using cochlear implantation, but results have not been satisfactory. Genetic screening identified a mutation in the NF2 gene. It is proposed that this patient's condition should be considered a variant of neurofibromatosis 2 and that bilateral facial neuromas should be included in the clinical criteria for this condition.
- - - - - - - - - -
ranking = 1
keywords = schwann
(Clic here for more details about this article)

2/66. Neurofibromatosis type 2 with multiple primary brain tumors in monozygotic twins.

    BACKGROUND: Although monozygotic twins with neurofibromatosis complicated by brain tumors rarely have been reported, none of them fulfilled the diagnostic criteria for neurofibromatosis type 2 (NF2). METHOD: We describe here the first pair of monozygotic twins with NF2, and the result of the molecular analysis of their NF2 gene. RESULTS: One of the brothers (Case 1) developed tetraparesis and cerebellar truncal ataxia at age 12. He had no skin lesions. Radiological examinations revealed, at one time or another, bilateral vestibular schwannomas, a foramen magnum meningioma, five supratentorial meningiomas, and multiple spinal cord tumors. He underwent three operations over a 10-year period to remove tumors. The patient is now 23 years old and is in college. Although asymptomatic when examined at age 12, CT scan revealed that his brother (Case 2) also had multiple brain tumors, including meningiomas, schwannomas, and multiple spinal tumors. Tumors were removed in eight operations over a 10-year period. The patient is now deaf and confined to a wheelchair. An identical nonsense mutation caused by a C to T transition (C169) in a CpG dinucleotide of the NF2 gene was identified in both patients. CONCLUSION: These results led us to speculate that dissimilarities with respect to time of appearance, distribution, and extent of symptoms and tumors between the twins were dependent on the influence of other genetic factors.
- - - - - - - - - -
ranking = 0.4
keywords = schwann
(Clic here for more details about this article)

3/66. Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: possible localization of a neurofibromatosis type 2 modifier gene?

    Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder predisposing to multiple neoplastic lesions with the hallmark of schwannoma arising at the eighth cranial nerve. NF2 shows a distinct clinical variability, with a mild and a severe form of the disease. The NF2 gene is mutated in constitutional dna of affected patients from NF2 families and in sporadic cases. Comprehensive mutation analyses in patients with severe and mild phenotypes revealed mutations in only 34%-66%. In the remaining fraction, the genetic mechanism behind the development of NF2 is unknown. Analyses of germline mutations do not provide a conclusive explanation for the observed clinical heterogeneity of NF2. It can therefore be hypothesized that other factors, e.g., modifier gene(s), contribute to the development of a more severe NF2 phenotype. We report a mentally retarded patient with the severe form of NF2 who displays a 7.4 million base pair deletion on chromosome 22. We performed a full genetic characterization of this case using heterozygozity analysis of 41 markers from chromosome 22, detailed FISH mapping of deletion breakpoints, allelotyping of all other chromosomes, and sequencing of the NF2 gene in tumor dna. Two genomically large deletions similar in size (700-800 kb), which encompass the entire NF2 gene, have been reported previously in mildly affected NF2 patients. The centromeric breakpoints of these deletions were similar to the centromeric breakpoint in the present case. However, the deletion in our patient extends over a much larger distance toward the telomere of 22q. Our results support the existence of NF2 modifier gene(s) and suggest that such a putative locus maps to a 6.5-MB interval on 22q, between D22S32 and the MB gene.
- - - - - - - - - -
ranking = 0.2
keywords = schwann
(Clic here for more details about this article)

4/66. association of lower cranial nerve schwannoma with spinal ependymoma in ? NF2.

    A 15 year old male, who had earlier been operated for intraspinal intramedullary ependymoma, subsequently developed a right cerebello pontine (CP) angle mass. A diagnosis of right CP angle ependymoma was considered, in view of established histology of previously operated spinal lesion. Histopathological examination of the well defined extra-axial mass, which was attached with ninth cranial nerve, however revealed a schwannoma. A diagnosis of Neurofibromatosis-2 (NF2) is strongly suspected, because of well established fact, that the spinal ependymomas may have association with lower cranial nerve schwannomas in NF2. Cranial and spinal MRI screening for early diagnosis of associated, asymptomatic lesions, in suspected cases of NF2, particularly in children, is recommended.
- - - - - - - - - -
ranking = 1.2
keywords = schwann
(Clic here for more details about this article)

5/66. Isolated metastases of adenocarcinoma in the bilateral internal auditory meatuses mimicking neurofibromatosis type 2--case report.

    A 56-year-old male with a history of lung cancer presented with isolated metastases of adenocarcinoma in the bilateral internal auditory meatuses (IAMs), mimicking the bilateral acoustic schwannomas of neurofibromatosis type 2, and manifesting as rapidly worsening tinnitus and bilateral hearing loss. magnetic resonance imaging showed small tumors in both IAMs with no sign of leptomeningeal metastasis. The preoperative diagnosis was neurofibromatosis type 2. Both tumors were removed and the histological diagnoses were adenocarcinoma. neuroimaging differentiation of a solitary metastatic IAM tumor from a benign tumor is difficult, although rapidly progressive eighth cranial nerve dysfunction suggests a malignant process. Metastases should be considered as a rare diagnostic possibility in a patient with small tumors in both IAMs.
- - - - - - - - - -
ranking = 0.2
keywords = schwann
(Clic here for more details about this article)

6/66. Intracanalicular schwannoma of the facial nerve: a manifestation of neurofibromatosis type 2.

    Primary facial nerve tumors, which are relatively uncommon, can present a diagnostic dilemma based on their location and variable pattern of symptoms. Of primary cranial nerve tumors, schwannomas of the facial nerve rank third in frequency after those of the eighth and fifth cranial nerves. We report an illustrative case of an intracanalicular schwannoma associated with several central nervous system tumors, consistent with neurofibromatosis type 2. Initially assumed to be an eighth cranial nerve tumor, the schwannoma was found intraoperatively to arise from the facial nerve. early diagnosis and treatment enabled excision of the tumor without sacrifice of the facial nerve. facial nerve schwannomas can resemble acoustic schwannomas in their clinical presentation. Only a heightened level of clinical vigilance will point to the correct diagnosis and result in an optimal therapeutic outcome for patients with these rare tumors.
- - - - - - - - - -
ranking = 1.8
keywords = schwann
(Clic here for more details about this article)

7/66. Intracranial sarcoma in a patient with neurofibromatosis type 2 treated with gamma knife radiosurgery for vestibular schwannoma.

    OBJECTIVE: To discuss the possible relationship between stereotactic radiation therapy and the development of a meningosarcoma. STUDY DESIGN: Retrospective case review. PATIENT: A 19-year-old woman with bilateral vestibular schwannomas (neurofibromatosis type 2). One large tumor was removed totally by the translabyrinthine approach; the other smaller tumor was treated with stereotactic radiation (SRT). Six years after SRT, a malignant tumor (meningosarcoma) developed at the exact site of radiation. The patient subsequently died of this tumor. OUTCOME MEASURE: On the basis of literature surveys, the possibility and risk of postirradiation neoplasia after SRT is discussed. Furthermore, the possible causal association between SRT and the development of the meningosarcoma in this case is evaluated. CONCLUSION: On the basis of statistical considerations, the development of the reported mesenchymal sarcoma was most likely caused by the stereotactic radiation therapy.
- - - - - - - - - -
ranking = 1
keywords = schwann
(Clic here for more details about this article)

8/66. Focal amyotrophy in neurofibromatosis 2.

    Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by bilateral vestibular schwannomas and other CNS tumours including meningiomas and spinal schwannomas. Occasionally, peripheral neuropathy occurs in these patients but this is the first report of focal amyotrophy. Clinical, electrophysiological, and imaging data from four NF2 patients seen at a specialist neurofibromatosis clinic over a 4 year period are described in whom symptomatic focal amyotrophy preceded the diagnosis of NF2. Two presented with wasting and weakness of a single muscle group, several years before NF2 was diagnosed. In one patient a mononeuritis multiplex was the presenting feature of NF2, and in one patient focal wasting and weakness developed after the diagnosis of NF2 was made. In none of the four cases could a focal peripheral nerve or root neurofibroma be identified despite extensive imaging with MRI, and the limitations of neuroimaging for identifying a structural cause in patients with NF2 with a focal peripheral nerve lesion is discussed. It is likely that NF2 may affect peripheral nerve structures in a manner distinct from a compressive schwannoma.
- - - - - - - - - -
ranking = 0.6
keywords = schwann
(Clic here for more details about this article)

9/66. Restoration of hearing with an auditory brainstem implant in a patient with neurofibromatosis type 2--case report.

    A 25-year-old male with neurofibromatosis type 2 had hearing restored with an auditory brainstem implant (ABI) after removal of an acoustic schwannoma. The ABI allows the patient to discern many different environment sounds and is a significant adjunct to lip-reading, enabling conversation with people who have clear pronunciation without the necessity for writing.
- - - - - - - - - -
ranking = 0.2
keywords = schwann
(Clic here for more details about this article)

10/66. Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene.

    Neurofibromatosis type 2 (NF2) is an autosomal dominant cancer syndrome that predisposes to the development of bilateral vestibular schwannomas sometimes associated with schwannomas at other locations, meningiomas, ependymomas and juvenile posterior subcapsular lenticular opacities. This disease is caused by inactivating mutations in the NF2 tumour-suppressor gene, located in 22q12. Recently, somatic mosaicism has been demonstrated in some "de novo" NF2 patients. We here report the genetic study of 33 NF2 patients from 33 unrelated Italian families. Twelve mutations were characterised, including seven newly identified mutations and five recurrent ones. Furthermore, we describe one patient with an inactivating mutation that lies in exon 13 but that is present in only a portion of the lymphocytes and, more importantly, a clinically normal individual carrying a somatic/germinal mosaicism for a nonsense mutation in exon 10 of the NF2 gene. Our results confirm the relatively high percentage of mosaicism for mutations in the NF2 gene and establish the importance of evaluating genomic dna from several tissues, in addition to lymphocytes, so as to identify mosaicism in "de novo" NF2 patients and their relatives. In addition, the demonstration of somatic and/or gonadal mosaicism is an important tool for accurate genetic counselling in families with sporadic cases of NF2.
- - - - - - - - - -
ranking = 0.4
keywords = schwann
(Clic here for more details about this article)
| Next ->


Leave a message about 'Neurofibromatosis 2'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.