1/46. 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 = 1keywords = brain (Clic here for more details about this article) |
2/46. Auditory rehabilitation in neurofibromatosis type 2: a case for cochlear implantation.cochlear implantation has a limited but definite role in the rehabilitation of certain neurofibromatosis type 2 (NF2) patients. The presence of a dead ear either before, or after, tumour removal does not necessarily imply loss of function in the eighth nerve; in some instances the hearing loss will be cochlear. Promontory or round window electrical stimulation may help to identify those individuals with surviving eighth nerve function. In such patients multichannel cochlear implantation promises a better level of audition than the auditory brain stem implant. This paper highlights such a case and the management problems are discussed.- - - - - - - - - - ranking = 0.16666666666667keywords = brain (Clic here for more details about this article) |
3/46. meningioma with meningioangiomatosis: a condition mimicking invasive meningiomas in children and young adults: report of two cases and review of the literature.Meningioangiomatosis is a malformative meningovascular proliferation that occurs sporadically and in patients with neurofibromatosis type 2. Its histologic features of perivascular proliferation of elongated fibroblast and meningothelial cells trapping islands of gliotic cortex may be erroneously interpreted as invasion when an overlying meningioma is present. We report two cases of meningioangiomatosis associated with meningioma and review the literature on the subject for a total of six cases. The age of patients ranged from 9 months to 33 years. All cases were single lesions, and none had clinical evidence of neurofibromatosis type 2. Meningiomas in children have been regarded as having more aggressive behavior than their adult counterparts, with more frequent invasion of the underlying brain. The lack of correlation between brain invasion and recurrence observed in series of meningiomas in young patients may suggest that some of these lesions are meningioangiomatosis associated with meningioma rather than invasive meningiomas.- - - - - - - - - - ranking = 0.33333333333333keywords = brain (Clic here for more details about this article) |
4/46. 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 = 2.2700318665725keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/46. radiosurgery for bilateral neurinomas associated with neurofibromatosis type 2.OBJECTIVE: The clinical course of bilateral acoustic tumors associated with neurofibromatosis (NF2) is generally troublesome, and no definite treatment strategy has been established. Follow-up results of bilateral acoustic tumors after radiosurgery are reported herein. methods: The current indications for radiosurgery are 1) a growing tumor less than 30 mm in mean diameter, 2) the ipsilateral ear has no serviceable hearing, and 3) there is risk of brain stem compression or brain stem dysfunction. Twenty cases of bilateral acoustic tumors were treated with the gamma knife, including 7 males and 13 females. The mean age was 38.2 years and the mean tumor size 24.4 mm. The tumors were treated with mean maximum and marginal doses of 26.8 Gy and 13.0 Gy, respectively. Among them, 12 patients had profound hearing loss in the ipsilateral (treated) ear, but the other 8 had serviceable hearing.RESULTS: Tumors treated with radiosurgery showed central necrosis in 60% of the cases at 6 months and in 70% at 9 months after radiosurgery. Thereafter, the tumors often demonstrated slow regression. The rate of tumor shrinkage was 20% at 12 months, 35% at 24 months, and almost 60% at 36 months. At the last follow-up (mean 33.6 months), the tumors demonstrated shrinkage in 50% and tumor control in 100%. The contralateral tumors were stable in 12 (60%) and enlarged in 8 (40%). Preservation of serviceable hearing ipsilaterally was obtained in 33.3%. Deterioration of ipsilateral facial nerve function, either in the natural course or as a complication, occurred in 10%. CONCLUSIONS: Because of good tumor control and tumor shrinkage as well as an acceptable complication rate, radiosurgery should be incorporated in the treatment strategy for bilateral acoustic tumors associated with NF2.- - - - - - - - - - ranking = 0.33333333333333keywords = brain (Clic here for more details about this article) |
6/46. Type II neurofibromatosis presenting as quadriceps atrophy.A young woman aged 26 years presented with atrophy of the left quadriceps progressing over one year. magnetic resonance imaging (MRI) showed a large lesion of the lumbar plexus compatible with neurinoma. Cerebral MRI revealed a lesion in the right eighth cranial nerve also compatible with neurinoma. On further questioning of the patient, it was learned that her mother had undergone surgery twice for acoustic neurinoma. Type II neurofibromatosis was diagnosed from the basis of clinical picture, neuroimaging findings and family history. This case is unusual for the lack of central nervous system (CNS) symptoms. Expansive radicular lesions compatible with neurinoma should prompt cerebral MRI. Regular examination of family members at risk and early diagnosis can decrease the high mortality associated with this condition.- - - - - - - - - - ranking = 2.2700318665725keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/46. Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype.The term cutis tricolor describes the uncommon co-existence of congenital hyper- and hypopigmented macules, in close proximity to each other, in a background of normal skin so far seen in a 17-year-old patient with various other congenital defects. The suggested explanation for this phenomenon is allelic twin spotting. We report on two boys, aged 6 and 11 years, with an unusual combination of three different degrees of pigmentation, one of whom had in addition, psychomotor delay, dysmorphic features, musculoskeletal abnormalities and subcortical and periventricular white matter high signal lesions on brain neuroimaging. In both cases a search for mosaicism in peripheral blood lymphocytes and cultured fibroblasts was negative. In contrast to the previously reported case, the two children had large streaks or patches of hyper- and hypopigmented skin lesions, in close proximity to each other, involving large areas of the body. The rest of the skin had a normal intermediate pigmentation. CONCLUSION: This combination of three degrees of pigmentation in association with systemic defects in one child and the lack of such association in the other confirms and further expands the clinical phenotype of cutis tricolor.- - - - - - - - - - ranking = 0.16666666666667keywords = brain (Clic here for more details about this article) |
8/46. Nucleus 21-channel auditory brainstem implant in patients with previous tumour removal.Three patients with neurofibromatosis type 2 who had undergone previous cochlear nerve tumour removal were implanted with the Nucleus 21-channel auditory brainstem implant (ABI). The time intervals between tumour removal and implantation were 4, 5, and 7 years, respectively. Total bilateral deafness was confirmed before implantation. One patient was also blind after acute intracranial hypertension. The translabyrinthine approach was used in all cases. The choice of side for implantation depended on pre-operative magnetic resonance imaging study, the facial nerve function, the presence of recurrent and/or other lesions, and the patient's preference. Although the scarring of prior surgical procedure largely changed the anatomical structures in the cerebello-pontine angle, various landmarks could be found to locate the foramen of Luschka, where the ABI electrode was inserted into the lateral recess of the fourth ventricle. During surgery, the electrically evoked auditory brainstem responses were recorded to confirm that the ABI stimulation activated the auditory system; the electromyogram of the 7th and 9th nerves was helpful in finding the landmarks and minimising the triggering of the cranial nerves with ABI stimulation. The number of active electrodes was 21, 7, and 4 in the three patients. All obtained meaningful pitch scaling and useful auditory sensations. One patient, with 21 activated electrodes, has achieved functional open-set speech understanding. The second patient, with 7 activated electrodes, has benefited from environmental sound awareness and improved lipreading. The last, blind, patient, with 4 electrodes activated, achieved only perception of environmental sounds.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
9/46. 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 = 0.83333333333333keywords = brain (Clic here for more details about this article) |
10/46. First Croatian auditory brainstem implantation.A deaf female patient was diagnosed with bilateral acoustic neurinomas. Diagnosis incorporated the standard audiological battery for sensorineural hearing loss, computed tomography and magnetic resonance imaging. The left side had been operated on four years previously in another clinic using the suboccipital approach. The auditory brainstem implant surgery was performed on the 'second side' using the same approach. It was an uneventful operation with good anatomy and no serious post-operative complications. Post-operatively, the patient performed exceptionally well, with up to 50 per cent of words recognized in the opened set and 85 per cent in the closed set, both without lip-reading.- - - - - - - - - - ranking = 0.83333333333333keywords = brain (Clic here for more details about this article) |
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