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V F Mautner

Publications and source records attributed to V F Mautner.

At least 55 records · Page 3Linked to original sources
PubMed1995

A 163-bp deletion in the neurofibromatosis 2 (NF2) gene associated with variant phenotypes [corrected].

We have analyzed cDNA from a 46-year-old atypical neurofibromatosis type 2 (NF2) patient who had lumbar tumors, cataract and schwannomas of peripheral nerves but no vestibular schwannomas, and have identified a 163-bp deletion in the NF2 transcript. The deletion is predicted to remove 54, alter 15 and add four extra amino acids at the C-terminus of the NF2-gene product. The same deletion was found in her two daughters and in a 3-year-old grandson. Bilateral vestibular schwannomas were detected in the two asymptomatic daughters, whereas no abnormality was found in the grandson.

Adult↗
PubMed1995

Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety.

OBJECTIVE: Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder leading to various tumors of the CNS, with vestibular schwannomas being the hallmark of the disease. We have observed multiple asymptomatic spinal lesions in patients who have a single symptomatic spinal tumor. Accordingly, we studied the frequency, multiplicity, and variety of spinal tumors in all patients with NF2 to determine what is characteristic of the disease. SUBJECTS AND METHODS: MR images of the entire spinal canal were made in 73 patients aged 4-69 years with NF2. The number, location, morphology, signal characteristics, and contrast medium uptake of the spinal tumors as seen on MR images were recorded and analyzed. Histopathologic proof of 22 spinal tumors was obtained in 19 patients. RESULTS: Spinal tumors were found on MR images in 89% of the patients studied. No location in any part of the spine was preferred. MR imaging showed intramedullary tumors in 24 patients (33%) (three ependymomas pathologically proven). Extradural and intradural extramedullary tumors were found on MR imaging in the cervical spine of 36 patients, the thoracic spine of 40 patients, and the lumbar spine of 49 patients. These tumors were meningiomas, schwannomas, or neurofibromas, three categories that could not be differentiated on the basis of the neuroradiologic findings, with ten schwannomas, seven meningiomas, and two neurofibromas pathologically proven. Extradural extramedullary tumors were found on MR imaging in the cervical spine of 12 patients, the thoracic spine of five patients, and the lumbar spine of 18 patients. A syrinx associated with a tumor was found in two patients. In 19 patients the variety of tumor types was confirmed by histologic examination. CONCLUSION: Patients with NF2 frequently have spinal tumors, which are often multiple and of various histologic types. The presence of multiple and different pathologic types of spinal tumors is highly suggestive of NF2.

Adolescent↗
PubMed1995

[Type 2 neurofibromatosis without acoustic neuroma].

Bilateral vestibular schwannomas (VSs) are the hallmark of neurofibromatosis type 2 and the crucial criteria for the diagnosis of this autosomal dominant disorder according to the criteria of the National Institutes of Health Consensus Statement. We describe three patients without VSs aged 47, 52 and 69 years, in whom a NF2 gene carrier status was diagnosed by spinal tumors, a cataract and schwannoma of cranial and peripheral nerves. In one case the diagnosis was ascertained by mutation analysis, which revealed a 163bp deletion in the NF2 cDNA, and by the fact that two daughters had the same deletion and NF2 according to the NIH criteria. Our finding suggests that patients with spinal tumors, multiple brain tumors, associated neurinomas or cataract might be carriers of a mutated NF2-gene. The study suggests that the NIH criteria are too restrictive, since NF2 seems to show up for a broader spectrum of phenotypes.

Aged↗
PubMed1993

Neurofibromatosis 2 in the pediatric age group.

Bilateral acoustic neurofibromatosis or neurofibromatosis 2 (NF2) is an autosomal dominant disease predisposing to the formation of multiple tumors in the central and peripheral nervous system. Vestibular schwannomas (VSs) are considered to be the hallmark of the disease, but other tumors and ocular findings occur as well. In patients that do not carry the NF2 mutation, VSs usually occur in the fifth or sixth decade of life. VSs in patients with NF2 are often bilateral and become symptomatic in the third or fourth decade of life. In order to define the early manifestations of NF2, we examined nine children who either had one parent with NF2 or had multiple skin or spinal tumors suggestive of NF2. In addition to neurological, dermatological, and ocular examinations, all patients were studied by gadolinium-enhanced magnetic resonance imaging of the brain and spine. None of the children exhibited symptoms or signs due to VSs. However, VSs were detected during the neuroradiological work-up in six children. Seven children developed symptoms or signs due to skin or spinal tumors. Slit lamp examination detected cataracts in four patients as young as 10 years of age. The diagnosis of NF2 in the pediatric age group requires a high degree of suspicion and should be considered in children with multiple central nervous system or skin tumors without cafe-au-lait spots or Lisch nodules. Because VSs are unlikely to produce the signs seen at the time of admission, careful examination of the skin and eyes is necessary and should be followed by gadolinium-enhanced magnetic resonance imaging of the brain and spine. First-degree relatives need to be examined as well.

Adolescent↗
PubMed1993

[Ophthalmologic differentiation of various forms of neurofibromatosis].

Neurofibromatosis (NF) is one of the most frequent autosomal-dominant hereditary disorders. The molecular-genetic differentiation of NF 1 and NF 2 has important implications for the ophthalmologist. Among 80 patients with NF 1, Lisch nodules were diagnosed in 83% as typical criteria for the disease. In 6 patients who did not meet the NIH criteria for NF 1 and NF 2, the ophthalmological investigation showed no cataracts or Lisch nodules; thus, the ophthalmological examination can help to confirm a subtype of NF. In 8 out of 22 NF 2 patients a juvenile posterior subcapsular cataract was diagnosed. Our examination demonstrates that the diagnostic value of lens opacities in NF 2 patients--especially for early detection of the disease--must be clarified, especially with regard to the fact that there were no patients with incipient cataract and no neuroradiological criteria for the disease.

Adolescent↗
PubMed1991

[Neurofibromatosis].

Explore the source record for details and available documents.

Diagnosis, Differential↗
PubMed1991

[Clinical relevance of signal-intense foci in cerebral magnetic resonance tomography in neurofibromatosis].

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.

Adolescent↗
PubMed1991

[Neurofibromatosis: current clinical and molecular genetic aspects from the neurologic viewpoint].

Neurofibromatosis is one of the most frequent autosomal-dominant hereditary disorders. Neoplastic, dysplastic and dysraphic lesions characterize the disease from the viewpoint of a neurologist. Depression, suicide, emotional instability, learning disability and behavior disorder are important aspects for the neuropsychiatric evaluation. Treatment of the patients will be facilitated by following the diagnostic criteria and by an interdisciplinary approach to diagnosis. The gene-molecular differentiation of NF I and NF II provides a basis for a more profound understanding of the disease which allows for more than just the clinical description. Cloning of the gene of NF I will give the possibility of predictive diagnosis of NF I. At present an indirect prenatal diagnosis of the genetic disorder is possible by flanking markers of NF I.

Chromosomes, Human, Pair 17↗
PubMed1990

[Epidemiology of Borrelia burgdorferi infection. Relation of the prevalence rate on determination by serologic procedures].

Investigation of subclinical infections with Borrelia burgdorferi in risk groups in Switzerland, Austria and southern Germany showed an infection rate of 16%-27%. Random samples of patients admitted to the neurological department of a hospital on the outskirts of Hamburg gave the following results: in 100 sera there was in 27% a positive Elisa-test, in 77 sera the IFT-test was positive in 13%, and in 210 sera 6% showed a positive IFT-test after absorption; the IFT- and IFT-Abs. were compared in 15 sera. The investigation confirms that subclinical infection with Borrelia burgdorferi in northern Germany is not uncommon. The fact that increased levels of IgG and IgM antibodies do not necessarily mean the presence of an acute or chronic disease should be remembered in making decisions about treatment.

Adolescent↗
PubMed1989

[Cerebral MRT in neurofibromatosis: gliosis versus neoplasia?].

15 patients aged 1-39 years with documented neurofibromatosis had MR examinations of the cerebrum within the scope of a basic diagnosis and therapy programme. Clinical examination did not lead to pathologic findings for 7 of the patients; 3 patients suffered from general developmental disabilities. A neurologico-psychiatric examination showed pathological findings in 5 patients. Signal-intense foci in proton density and T2-weighted MR images were found in the globus pallidus, thalamus, hippocampus, cerebellum and midbrain. In 2 patients, these foci could be found as well in T1-weighted images. Differentiation between gliosis areas and low grade astrocytomas was not possible in MR.

Adolescent↗
PubMed1987

[Differential diagnostic value of postictal serum prolactin determination].

Determination of serum prolactin concentration was carried out under standardized conditions on 70 hospitalised patients after different types of epileptic, syncopal and psychogenic seizures. In cases of unconsciousness of unknown cause and of unobserved seizures there is evidence that the determination of postictal prolactin may help to clarify the diagnosis. Excluding patients with epileptic seizures due to alcohol withdrawal only in 70% of the patients was there a significant elevation of serum prolactin. The clinical procedure thus appears to be of importance also in the differential diagnosis of psychogenic seizures. Patients with epileptic seizures due to alcohol withdrawal showed an elevated prolactin concentration in only 45% of cases. Whereas an elevated serum prolactin level indicates the occurrence of a grand mal seizure, a normal prolactin level does not positively exclude epileptic seizures.

Adult↗
PubMedDate not supplied

Cochlear implantation after acoustic tumour resection in neurofibromatosis type 2: impact of intra- and postoperative neural response telemetry monitoring.

The present paper reports about a 16-year-old male with neurofibromatosis type 2 (NF-2) of the Wishart type with bilateral deafness who had undergone cochlear implantation after resection of the acoustic neuroma (AN) of the same side. Neural response telemetry (NRT) recordings are essential in those patients during cochlear implantation where no stapedial reflexes can be electrically elicited due to the resection of the AN. In the present case, amplitude growth function and a type II pattern of the NRT waveforms could be well established. The comparison of the N(1) response intra-operatively and after 2 years showed a decline in latency by 50% and an increase in absolute amplitude by 10 times at the same current level of electrical stimulation. This improved auditory nerve transduction suggested a change to a 'faster' encoding strategy to improve speech understanding. The change from SPEAK to ACE 18 months after the operation led to an increase in the open-set sentence recognition test from 52 to 88%. Thus, NRT recordings monitor the intra-operative success of electrode placement and help to assess the integrity of the auditory pathway. Moreover, they can reliably be used in programming the speech processor postoperatively as objective tool. In patients with NF-2, the restoration of hearing can be successfully achieved in several ways. The indications for hearing implants (auditory brain stem and cochlear implants) should be carefully considered with respect to the remaining, functional integrity of the auditory nerve and the technical possibilities to monitor the success of these procedures.

Action Potentials↗
PubMedDate not supplied

Growth type of plexiform neurofibromas in NF1 determined on magnetic resonance images.

This article describes some types of growth in plexiform neurofibroma (PNF) on magnetic resonance images (MRI). This tumor is almost exclusively associated with NF1. On MRI, the tumor is depicted as a hyperintensive area on T2-weighted images. We distinguished 3 patterns of tumor growth: first, the superficial and non-invasive tumors, that are restricted to the cutis and subcutis, only eventually having outgrowth to the muscles beneath and are slow growing. Second, the displacing PNF that develop in deeper layers of the skin or within the body. They can grow to a large extent but do not invade adjacent muscles or skin. Thirdly, the invasive type with no visible margins that cannot be resected without adjacent structures or organs. A combination of these tumors can sometimes be noted, e.g. a displacing tumorous nerve developing in a large lumpy, non-invasive PNF. These categories might be used as a current guideline for medical advice, surgical treatment planning and medication trials.

Cell Division↗