Co-Planar Stereotaxic Atlas of the Human Brain—3-Dimensional Proportional System: An Approach to Cerebral Imaging, J. Talairach, P. Tournoux. Georg Thieme Verlag, New York (1988), 122 pp., 130 figs. DM 268

Neurofibromatosis type 2 (NF2) is a monogenic dominantly inherited disease predisposing carriers to develop nervous system tumours. To identify the genetic defect, the region between two flanking polymorphic markers on chromosome 22 was cloned and several genes identified. One is the site of germ-line mutations in NF2 patients and of somatic mutations in NF2-related tumours. Its deduced product has homology with proteins at the plasma membrane and cytoskeleton interface, a previously unknown site of action of tumour suppressor genes in humans.

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

https://www.cell.com/cell/pdf/0092-8674(93)90406-G.pdf

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

Objective. —Neurofibromatosis 1 and neurofibromatosis 2 are autosomal dominant genetic disorders in which affected individuals develop both benign and malignant tumors at an increased frequency. Since the original National Institutes of Health Consensus Development Conference in 1987, there has been significant progress toward a more complete understanding of the molecular bases for neurofibromatosis 1 and neurofibromatosis 2. Our objective was to determine the diagnostic criteria for neurofibromatosis 1 and neurofibromatosis 2, recommendations for the care of patients and their families at diagnosis and during routine follow-up, and the role of DNA diagnostic testing in the evaluation of these disorders. Data Sources. —Published reports from 1966 through 1996 obtained by MEDLINE search and studies presented at national and international meetings. Study Selection. —All studies were reviewed and analyzed by consensus from multiple authors. Data Extraction. —Peer-reviewed published data were critically evaluated by independent extraction by multiple authors. Data Synthesis. —The main results of the review were qualitative and were reviewed by neurofibromatosis clinical directors worldwide through an Internet Web site. Conclusions. —On the basis of the information presented in this review, we propose a comprehensive approach to the diagnosis and treatment of individuals with neurofibromatosis 1 and neurofibromatosis 2.

https://jamanetwork.com/journals/jama/articlepdf/417288/jama_278_1_042.pdf

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

Introduction Histological Classification of CNS Tumours Definitions and Explanatory Notes Tumours of Neuroepithelial Tissue Astrocytic Tumours Ependymal Tumours Mixed Gliomas Choroid Plexus Tumours Neuroepithelial Tumours of Uncertain Origin Neuronal and Mixed Neuronal-Glial Tumours Pineal Parenchymal Tumours Embryonal Tumours Tumours of Cranial and Spinal Nerves Schwannoma Neurofibroma Malignant Peripheral Nerve Sheath Tumor Tumours of the Meninges Tumours of Menigothelial Cells Mesenchymal, Non-menigothelial Tumours Primary Melanocytic Lesions Lymphomas and Haemopoietic Neoplasms Germ Cell Tumours Cysts and Tumour-like Lesions Tumours of the Sellar Region Local Extensions from Regional Tumours Metastatic Tumours Unclassified Tumours Illustrations Subject Index Metat Cy Tu

Histological Typing of tumours of the Central Nervous System

It is essential for the Otologist in training to become familiar with the anatomy of the temporal bone. Generations of trainees have acquired this knowledge, together with basic surgical skills and techniques by dissection of cadaver temporal bones. In recent years, however, the supply of temporal bones for dissection has become a contentious issue in many British hospitals. Media and public attention has recently focused on issues surrounding the retention of human tissues following post-mortem examinations. In response, the Chief Medical Officer, the Royal College of Pathologists in the UK, the Faculty of Pathology of the Royal College of Physicians in Ireland, the British Medical Association, and other bodies have issued new guidelines that are of relevance to the Otolaryngologist. This paper gives details of some of the UK guidelines and where they can be accessed. A copy of the Royal College of Pathologists preferred post-mortem consent form is presented. The authors' experience in Manchester is discussed and details of an information leaflet on the subject of temporal bone donation are given. It is concluded that, with knowledge of the existing guidelines and good communication with other hospital colleagues, as well as families of the deceased, it is still possible legally to obtain temporal bones for dissection.

"Bones of Contention". The donation of temporal bones for dissection after the organ-retention scandals.

A case of a cerebellopontine angle lipoma is presented with a typical clinical, audiometric and radiological features of an acoustic neuroma. The correct pre-operative diagnosis was elusive even with the aid of magnetic resonance imaging.

Cerebellopontine angle lipoma.

Promontory stimulation testing was carried out on a series of ten patients who had undergone osseous labyrinthectomy. The thresholds, discomfort levels and dynamic ranges were found to be comparable with a series of ten patients who have subsequently been successfully implanted with the Nucleus 22 channel cochlear implant. These findings suggest that cochlear implantation might be possible in a labyrinthectomized ear.

https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0022215100117141

Promontory stimulation following labyrinthectomy.

Immediate electrocochleographic changes have been studied in a series of patients following intravenous infusion of either tobramycin or gentamicin. In patients receiving tobramycin, as soon as peak serum levels of antibiotic were reached, a dramatic decrease occurred in the magnitude of the compound VIII nerve action potential (AP), and of the cochlear microphonic (CM). The shape of the AP also changed. The N1 component of the waveform became very small, and N2 increased in size; this is the dissociated pattern of basal coil cochlear damage. The speed of onset of these electrical changes and their apparent reversibility suggests a temporary metabolic block caused by tobramycin. No such changes were observed following infusion of gentamicin.

Immediate effects of intravenous tobramycin and gentamicin on human cochlear function.

Ninety-three patients with unilateral vestibular schwannomas were examined in a clinical, genetic and audiological study, to determine whether they had features associated with neurofibromatosis Type 1 or neurofibromatosis Type 2. In 91 families, one patient only was found to be affected with a unilateral vestibular schwannoma. Patients did have a few cafe-au-lait macules, but fewer than six in number. None of the patients satisfied the cutaneous diagnostic criteria for neurofibromatosis Type 1. Neither Lisch nodules nor presenile posterior subcapsular lenticular opacities or cortical opacities were a feature. Five patients with unilateral vestibular schwannomas are described where the clinical findings raised the possibility of neurofibromatosis Type 2. It is suggested that certain individuals with unilateral vestibular schwannomas are at risk of developing neurofibromatosis Type 2. Furthermore, the possibility of neurofibromatosis Type 2 should be considered if more than one individual in a family is found to be affected with a unilateral vestibular schwannoma.

A clinical, genetic and audiological study of patients and families with unilateral vestibular schwannomas. I. Clinical features of neurofibromatosis in patients with unilateral vestibular schwannomas

Richard T. Ramsden

Papers

"Bones of Contention". The donation of temporal bones for dissection after the organ-retention scandals.

Cerebellopontine angle lipoma.

Promontory stimulation following labyrinthectomy.

Immediate effects of intravenous tobramycin and gentamicin on human cochlear function.

A clinical, genetic and audiological study of patients and families with unilateral vestibular schwannomas. I. Clinical features of neurofibromatosis in patients with unilateral vestibular schwannomas