Search

Objective: To evaluate the neurological outcome after resection of peripheral non-intracranial schwannomas in Neurofibromatosis Type 2 (NF2) compared to Schwannomatosis (SWNT) patients. Methods: We retrospectively reviewed the clinical and functional outcome (motor, sensory, pain) of 205 operated [for full text, please go to the a.m. URL]

Objective: Neurofibromatosis type 2 (NF2) is an autosomal-dominant hereditary disease characterized by multiple tumours of the central and peripheral nervous system. NF2 is associated with a considerable morbidity and mortality. However, little data is available on life-expectancy, negative prognostic[for full text, please go to the a.m. URL], 72. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit der Polnischen Gesellschaft für Neurochirurgie

Objective: To evaluate the clinical effects of surgery for symptomatic and/or progressive Neurofibromatosis Type 2 (NF2) associated spinal ependymomas. Methods: We retrospectively reviewed clinical reports and T1- and T2-weighted magnetic resonance images in 180 patients with NF2. 109/180[for full text, please go to the a.m. URL], 72. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit der Polnischen Gesellschaft für Neurochirurgie

Objective: The present study evaluates tumor volume and growth rate of neurofibromatosis type 2 (NF2)-associated vestibular schwannomas (VSs) as well as clinical factors or type of mutations before and after surgery in children and young adults under the age of 25 at time of diagnosis. Methods:[for full text, please go to the a.m. URL], 70. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit der Skandinavischen Gesellschaft für Neurochirurgie

Objective: To evaluate tumor growth rate and hearing outcome after decompression of the internal auditory canal (IAC) with or without tumor resection in NF2-associated vestibular schwannomas Methods: In this retrospective study we reviewed twenty children and adolescent (9-18 years) with Neurofibromatosis[for full text, please go to the a.m. URL], 68. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), 7. Joint Meeting mit der Society of British Neurological Surgeons (SBNS)

Objective: Neurofibromatosis Type 2 (NF Type 2) is an autosomal-dominant tumor-prone disorder characterized by bilateral vestibular schwannomas and other CNS tumors. Less known manifestations of the disease, which are especially in children the first diagnostic hallmarks are bone lesions, NF2 polyneuropathy,[for full text, please go to the a.m. URL], 68. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), 7. Joint Meeting mit der Society of British Neurological Surgeons (SBNS)

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that shows high penetrance with a wide variability in the phenotype. Prepubertal enlargement of the breast in male subjects affected by this condition is well known, but rarely reported. The present case report describes diagnosis and therapy of unilateral gynaecomastia in a toddler showing integumental stigmata of NF1. Furthermore, the report provides a brief review of the literature concerning this finding in NF1. According to this review, the present case appears to be one of the youngest NF1-affected males affected by gynaecomastia that has been reported. Die Neurofibromatose Typ 1 (NF1) ist eine autosomal dominante Erbkrankheit mit hoher Penetranz bei breiter Variabilität des Phänotyps. Präpubertäre Brustvergrößerungen bei männlichen NF1-erkrankten Patienten sind bekannt, aber sehr selten publiziert. Der vorliegende Fallbericht beschreibt Diagnose und Therapie der unilateralen Gynäkomastie eines Kleinkindes mit klinischen Stigmata der NF1 und bietet eine Übersicht bisheriger Fälle mit ähnlichem Erscheinungsbild. Nach Lage der bisher veröffentlichten Berichte handelt es sich in diesem Fall um eine der bisher frühesten Manifestationen einer Gynäkomastie bei NF1.

Neurofibromatosis Type 1 and 2 (NF1 und NF2) are different forms of neurofibromatosis, well defined both clinically and genetically. In absence of typical clinical features of NF1 (café-au-lait-spots, cutaneous neurofibromas, Lisch-nodules) or NF2 (vestibular schwanoma) clinical classification is often not possible. Neurofibromas are more common in NF1 and schwannomas are typical for NF2, but pathological histology does not provide sufficient evidence for diagnosis. We describe 14 patients who presented with the clinical picture of multiple spinal tumours. Detailed family history, exact clinical examination including an ophthalmological examination led to the diagnosis of NF2 in four cases. Mutation analysis confirmed the diagnosis of NF2 in one case by identification of a 163 base pair deletion in the NF2 transcript. To investigate the expression of schwannomin and neurofibromin we stained tumour paraffin sections of six patients with antibodies against peptides of the NF1 and the NF2 protein. Based on preserved immunoreactivities we were able to exclude diagnosis of NF1 in three and NF2 in two cases. In four patients the clinical symptoms could confirm the diagnosis of schwannomatosis. Combining the results of clinical, neurogenetical and immunohistochemical examinations we could diagnose NF1 or NF2 in ten patients in total. Immunoreactivity led to the suggestion of NF2 in two patients; the other two patients whose tumours were not stained so far, could as yet not be classified for NF.

Loss of heterozygosity (LOH), is a frequent genetic events in tumor and can be used as predictive marker for tumor development and progression. For example, LOH of chromosomes 3p and 9p are among the most predictive markers for oral squamous cell carcinomas (OSCC). On the other hand, LOH analysis provides[for full text, please go to the a.m. URL], 49. Jahrestagung der Deutschen Gesellschaft für Plastische und Wiederherstellungschirurgie (DGPW)

Einleitung: Akustikusneurinome sind häufige Erkrankungen bei Patienten mit Neurofibromatose Typ 2 und bedingen Hörverluste oder Taubheit. Bislang werden diese Tumoren entweder mittels Operation und Bestrahlung therapiert. Bei diesen Therapien kann das Hörvermögen oder die Fazialisfunktion[for full text, please go to the a.m. URL], 81. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie

37 patients with documented neurofibromatosis (15 children and 22 adults) had MR examination of the cerebrum. To determine the clinical relevance of signalintense foci in MRT EEG, BAEP and a neuropsychological test batteries was carried out. Our investigations showed that signalintense areas, which possibly represent dysplastic lesions, did not correlate with neurological deficits, epileptic seizures and cognitive disabilities. It remains unclear whether these lesions are of a potential malignancy.

[corrected] To describe the clinical and genetic findings of seven additional pedigrees with autosomal dominant lateral temporal epilepsy (ADLTE).A personal and family history was obtained from each affected and unaffected member, along with a physical and neurologic examination. Routine and sleep EEGs, computed tomography (CT), or magnetic resonance imaging (MRI) were performed in almost all the patients. DNAs from family members were typed with several microsatellite markers localized on either side of LGI1 at 10q24 and screened for LGI1 mutations.The seven families included a total of 34 affected individuals (10 deceased). The age at onset ranged between 8 and 50 years (average, 22 years). Twenty-six patients had clear-cut focal (elementary, complex, or secondarily generalized) seizures, characterized by prominent auditory auras in 68% of the cases. Less frequent ictal symptoms were visual, psychic, or aphasic seizures, the latter occurring in isolation in one family. The attacks were rare and well controlled by antiepileptic drug treatment but recurred after drug discontinuation. Interictal EEGs were usually unrevealing. MRI or CT scans were negative. Analysis of LGI1/Epitempin exons failed to show mutations in three pedigrees. Linkage analysis strongly suggested exclusion of linkage in one of these families. We found two novel missense mutations, a T--C substitution in exon 6 at position 598, and a T--A transition in exon 8 at position 1295, the latter being detected in a family with aphasic seizures.Our data confirm the inclusion of aphasic seizures within the ADLTE clinical spectrum, suggest the existence of locus heterogeneity in ADLTE, and provide new familial cases with LGI1 missense mutations associated with the disease.

Schwannomas are benign solitary tumours of the peripheral nerve sheaths. The occurrence of multiple schwannomas usually implies hereditary disease. The most frequent syndrome associated with multiple schwannomas is neurofibromatosis type 2 (NF2), which is defined by bilateral vestibular schwannomas. Schwannomatosis is a distinct disease characterized by multiple pathologically proven schwannomas in the absence of vestibular schwannomas. It is not currently known if the presence of multiple schwannomas confined to a limb may represent a mosaic form of NF2 or a distinct disease, because mutation analysis of these tumours is not routinely performed. We report a 31-year-old patient who presented with multiple slowly growing subcutaneous tumours on his left arm. His family history was negative for cutaneous tumours or central nervous system disease, and he did not have additional features of NF2. Magnetic resonance tomography and ophthalmological examination excluded vestibular schwannoma and eye stigmata of NF2. After resection of three tumours, histological analysis confirmed the diagnosis of benign schwannomas. Molecular genetic analysis by temperature gradient gel electrophoresis and microsatellite marker analysis demonstrated two distinct mutations of the NF2 gene (NF2) in two different schwannomas, with concomitant loss of heterozygosity in both tumours. In contrast, neither normal skin nor peripheral blood lymphocytes revealed mutations of NF2. The clinical and molecular genetic findings suggest that the diagnosis in our patient is schwannomatosis rather than segmental NF2 because the mutations found in different tumours were not identical. The possibility of a localized predisposition for the acquisition of NF2 mutations is discussed.