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

The adult cochlear implant programme in Manchester was established in 1988, initially using funding obtained from the HEAR (Help Ear and Allied Research: charity number: 519784) charity before government resources became available in the mid-1990s. Manchester was the first centre in the UK to implant multichannel devices on a regular basis. To date, over 250 adults have been implanted, including nine bilateral and eight deaf-blind patients.(1) All the patients have a postlingual onset of severe-profound hearing loss; 73% (n = 175) of the implants performed used a Nucleus multichannel implant and 24% (n = 58) used a Medel multichannel implant. In addition, the team has implanted three Medel single channel devices, two Ineraid devices and one Clarion High Focus II device. This study is a retrospective analysis of the trends and outcomes in implant fitting during the first 14 years (1988-2002) of the programme. The paper describes the patient demographics and audiological complications for 240 implantations performed on 214 patients. Speech perception outcomes are reported for a subset of the patients. The average score for the Bench, Kowal, Bamford sentence test at the post-18-month stage of implant use is 66% and for Arthur Boothroyd words 53%. Trends in the series are analysed with respect to the change in criteria for adult implantation, the move towards bilateral implantation and the rate of uptake of cochlear implants by different ethnic groups.

Trends and outcomes in the Manchester adult cochlear implant series.

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.

https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0022215100143452

Auditory rehabilitation in neurofibromatosis type 2: a case for cochlear implantation

Objective: To assess the validity of intraoperative minimal stimulation threshold (MST) for predicting long-term facial function after vestibular schwannoma surgery. Study Design: Prospective blinded study. Methods: MST after tumor dissection and postoperative clinical facial function, assessed using the House Brackmann grading system (HB), were used to predict long-term clinical facial function, recorded at least 6 months after surgery. Results: Two hundred and nine consecutive patients fulfilled selection criteria and 184 had successful intraoperative electrophysiologic monitoring and were eligible for further study. MST of 0.05 mA had moderate accuracy for predicting good long-term facial function, with 94% sensitivity, 91% positive predictive value (PPV), 60% specificity, and 70% negative predictive value (NPV). A more relevant group of 77 patients with poor postoperative facial function (HB III-VI) were assessed for predicting good long-term function. Applying this criteria, test accuracy fell, with 83% sensitivity, 64% PPV, 60% specificity, and 75% NPV. Postoperative clinical facial function had a greater accuracy for predicting good long-term function, with 83% sensitivity, 79% PPV, 75% specificity, and 79% NPV. A model of predicted probabilities of good outcome (HB I and II) was derived from a logistic regression with two additive predictors (postoperative HB and MST). This demonstrated that for patients with postoperative HB grade V, MST aided prediction. Conclusions: Intraoperative stimulation thresholds, when assessed against a relevant group of patients with poor postoperative facial function, had poor predictive accuracy. The severity of immediate postoperative clinical facial function was the most accurate predictor of long-term outcome. MST aided long-term prediction in a small but relevant group of patients with postoperative HB grade V facial function. Key Words: Facial nerve, vestibular schwannoma, electromyography, EMG.

Intraoperative electromyography for predicting facial function in vestibular schwannoma surgery.

International consensus on meningitis and cochlear implants.

Intralabyrinthine schwannomas are rare benign tumours which present with progressive or fluctuant audiovestibular symptoms and may mimic Menieres discase. The size and position of these lesions make preoperative diagnosis unusual and most are discovered incidentally at labyrinthectomy. A case is reported which was diagnosed on magnetic resonance imaging and confirmed at surgery.

Richard T. Ramsden

Papers

Trends and outcomes in the Manchester adult cochlear implant series.

Auditory rehabilitation in neurofibromatosis type 2: a case for cochlear implantation

Intraoperative electromyography for predicting facial function in vestibular schwannoma surgery.

International consensus on meningitis and cochlear implants.

Intralabyrinthine schwannoma shown by magnetic resonance imaging.