Biopsy Pathology of Museie

Transcription

1 Biopsy Pathology of Museie

2 BIOPSY PA THOLOGY SERIES General Editors Professor Leonard S. Gottlieb, MD, MPH Mallory Institute of Pathology, Boston, USA Professor A. Munro Neville, PhD, DSc, MD, FRC Path. Ludwig Institute for Cancer Research, Zurich, Switzerland Professor F. Walker, MD, PhD, FRC Path. Department of Pathology, University of Aberdeen, UK Other titles in the series 1. Biopsy Pathology of the Small Intestine F. D. Lee and P. G. Toner 2. Biopsy Pathology of the Liver R. S. PatrickandJ. O'D. McGee 3. Brain Biopsy J. H. Adams, D.l. Graham and D. Doyle 4. Biopsy Pathology of the Lymphoreticular System D. H. Wright and P. G. Isaacson 6. Biopsy Pathology of Bone and Bone Marrow B. Frisch, S. M. Lewis, R. Burkhardt and R. Bartl 7. Biopsy Pathology of the Breast J. Sloane 8. Biopsy Pathology of the Oesophagus, Stomach and Duodenum D. W. Day 9. Biopsy Pathology of the Bronchi E. M. McDowell and T. F. Beals 10. Biopsy Pathology in Colorectal Disease I. C. Talbot and A. B. Price 11. Biopsy Pathology and Cytology of the Cervix D. V. Coleman and D. M. D. Evans 12. Biopsy Pathology of the Liver (2nd edn) R. S. PatrickandJ. O'D. McGee 13. Biopsy Pathology of the Pulmonary Vasculature C. A. Wagenvoort and W. J. Mooi 14. Biopsy Pathology of the Endometrium C. H. Buckley and H. Fox 15. Biopsy Pathology of Muselei (2nd edn) M. Swash and M.S. Schwartz

3 Biopsy Pathology of Museie Second edition MICHAEL SW ASH M.D. (London), F.R.C.P. (London), M.R.C. Path. Consultant Neurologist, The Royal London Hospital and St Mark's Hospital London, and Senior Lecturer in Neuropathology, The Medical College of the Royal London Hospital and MARTIN S. SCHWARTZ M.D. (Maryland) Consultant Clinical Neurophysiologist St George's Hospital (Atkinson Morley's Hospital) London /an/ Springer-Science+Business Media, B.V.

4 Firstedition 1984 Second edition ,1991 M. SwashandM.S. Schwartz Originally published by Chapman and Hall in Softcover reprint of the bardeover 2rd edition 1991 Typeset in 10/12pt Palatino by EJS Chemical Composition, Midsomer N orton, Bath, A von ISBN ISBN (ebook) DOI / All rights reserved. No part of this publication may be reproduced or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, or stored in any retrieval system of any nature, without the written permission of the copyrightholder and the publisher, application for which shall be made to the publisher. The publisher makes no representation, express or implied, with regard to the accuracy of the information contained in this book and cannot accept any legal responsibility or liability for any errors or omissions that may bemade. British Library Cataloguing in Publication Data Swash, Michael1939- Biopsy pathology of muscle.-2nd ed. 1. Man. Muscles. Diagnosis. Biopsy I. Title II. Schwartz, Martin S. (Martin Samuel) III. Series

5 Contents Acknowledgements Preface viü ix 1 Introduction General features of muscle The motor unit Classification of neuromuscular disorders Indieations for muscle biopsy Selection of muscle for biopsy Clinieal features of neuromuscular disease Clinieal investigation of neuromuscular disorders Animal models of human neuromuscular disease 13 References 14 2 The muscle biopsy: techniques and laboratory methods Preparation of the biopsy Cutting sections Histological methods Histological techniques for other structures found in muscle 32 References 37 3 Histological and morphometric characteristics of normal muscle Fibre size Fibre-type distribution Fibre-type predominance Histological features 43 References 51 4 Histological features of myopathic and neuragenie disorders Myopathie disorders Neurogenie disorders 72 References 81

6 vi Contents 5 Inflammatory myopathies Clinical features of inflammatory myopathies Labaratory investigations Pathology Museie involvement in other autoimmune disorders 96 References Muscular dystrophies Duchenne muscular dystrophy Becker muscular dystrophy Other X-linked dystrophies Limb-girdle muscular dystrophy Facioscapulohumeral muscular dystrophy Distal myopathies Myotonie dystrophy Ocular myopathies and oculopharyngeal dystrophy 126 References 'Benign' myopathies of childhood Nemaline myopathy Central core disease Centronuclear (myotubular) myopathy Congenital fibre-type disproportion Myopathy with tubular aggregates Failure of fibre-type differentiation Other benign myopathies of childhood Congenital muscular dystrophy 144 References Metabolie, endocrine and drug-induced myopathies Metabolie myopathies Endocrine myopathies Drug-induced myopathies 171 References N eurogenic disorders Spinal muscular atrophies Motor neuron disease Other disorders of anterior horn cells and ventral roots Polyneuropathies Mononeuropathies 196 References 196

7 Tumours of striated muscle and related disorders In collaboration with Jon van der Walt Primary tumours arising in muscle Tumours of muscle Tumours of fibrous tissue Fibrohistiocytie tumours Tumours of fat Tumours of blood vessels Tumours of peripheral nerves Other tumours that may arise in muscle Masses that mirnie tumours (pseudotumours) Conclusion References Contents vii Interpretation of the muscle biopsy Is the biopsy abnormal? Myopathie or neurogenie? Specific morphological changes in myopathies Signifieance of some morphologieal abnormalities in muscle fibres Relation of pathological change to clinieal disability or stage of disorder Are sequential biopsies useful? Index

8 Acknowledgements No book can be written without help from colleagues. We thank particularly Dr Jon van der Walt, Senior Lecturer in Morbid Anatomy at the Medical College of the Royal London Hospital, whose advice and help in updating Chapter 10, on tumours found in striated muscle, has been invaluable. Mr lvor Northey in the department of medical photography of the Institute of Pathology at The London Hospital Medical College prepared the illustrations. The work which has led to the preparation of this book has been supported, at least in part, by The London Hospital Special Trustees, The Wellcome Trust, The Medical Research Council, The Motor Neuron Disease Association, and The London Hospital Medical College, and we gratefully acknowledge this support. Figure 2.2 was provided by Dr K.-G. Henriksson, Linkoping, Sweden, Fig. 2.7 by Professor Leo Duchen, Institute of Neurology, London, and Fig. 3.6 by Dr J.N. Cox, Cantonal Hospital, Geneva. We are particularly grateful to them for their help. A number of the illustrations are taken from our previous publications in various journals and these are reproduced here, with permission, as follows: Fig. 2.7, Neurology; Figs 4.12, 7.3, 7.5 and 8.6, Journal of Neurology, Neurosurgery and Psychiatry; Fig. 3.5a, b, Journal of Anatomy; Figs 4.12c, 6.17 and 8.4, Brain; Figs 4.3 and 8.14, Muscle and Nerve; Figs 4.6, 4.7, 5.7, 5.8, 5.14, 7.1, 7.8, 8.11 and 9.4 are reproduced from our book, Neuromuscular Diseases: A Practical Approach to Diagnosis and Management, Springer-Verlag, Berlin, Heidelberg, New York, 2nd edn (1988). Finally, we thank Mrs Adrienne Raine, who typed the manuscript with unfailing accuracy. M. Swash The Royal London Hospital, El M.S. Schwartz Atkinson Morley's Hospital, SW20

9 Preface Museie biopsy is a long-established technique in clinical practice having been introduced by Duchenne in 1868 (Arch. Gen. Med., 11, 5-179). However, the needle method used by Duchenne was not generally adopted, although Shank and Hoagland described a similar technique in 1943 (Science, 98, 592), and open muscle biopsy has for long been preferred in clinical practice, even with the advent of newer needle biopsy methods (Bergstrom, 1962, Scand. J. Clin. Lab. Invest., 14, Suppl. 68, 1-110). The development of enzyme histochemical techniques has contributed greatly to knowledge of muscle pathology. More recently electron microscopy and immunocytochemistry have also been applied to clinical diagnosis of neuromuscular disease. This book is intended to serve as a practical guide in muscle pathology, particularly for histopathologists, and for those in training. As enzyme histochemistry has become more widely available, formalin-fixed methods have become less frequently used in muscle biopsy work. In this new edition of Muscle Biopsy Pathology we have taken account of the advances in classification and histological technique, and in knowledge of neuromuscular diseases, that have emerged since the first editionwas published in We hope that this book will continue to be used as a practical guide in the diagnosis and understanding of these disorders.