Biopsy Pathology of Muscle

247 Pages·1991·9.889 MB·English

by  Michael Swash M.D. (London), F.R.C.P. (London), M.R.C. Path., Martin S. Schwartz M.D. (Maryland) (auth.)

Biopsy Pathology of Museie
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
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.
Firstedition 1984
Second edition 1991
© 1984,1991 M. SwashandM.S. Schwartz
Originally published by Chapman and Hall in 1991.
Softcover reprint of the bardeover 2rd edition 1991
Typeset in 10/12pt Palatino by EJS Chemical Composition,
Midsomer N orton, Bath, A von
ISBN 978-0-412-34880-8 ISBN 978-1-4899-3400-0 (eBook)
DOI 10.1007/978-1-4899-3400-0
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
616.740758
Contents
Acknowledgements viü
Preface ix
1 Introduction 1
1.1 General features of muscle 1
1.2 The motor unit 3
1.3 Classification of neuromuscular disorders 3
1.4 Indieations for muscle biopsy 7
1.5 Selection of muscle for biopsy 8
1.6 Clinieal features of neuromuscular disease 9
1.7 Clinieal investigation of neuromuscular disorders 11
1.8 Animal models of human neuromuscular disease 13
References 14
2 The muscle biopsy: techniques and laboratory methods 15
2.1 Preparation of the biopsy 15
2.2 Cutting sections 21
2.3 Histological methods 24
2.4 Histological techniques for other structures found in muscle 32
References 37
3 Histological and morphometric characteristics of
normal muscle 38
3.1 Fibre size 39
3.2 Fibre-type distribution 42
3.3 Fibre-type predominance 42
3.4 Histological features 43
References 51
4 Histological features of myopathic and neuragenie disorders 53
4.1 Myopathie disorders 54
4.2 Neurogenie disorders 72
References 81
vi Contents
5 Inflammatory myopathies 83
5.1 Clinical features of inflammatory myopathies 84
5.2 Labaratory investigations 85
5.3 Pathology 85
5.4 Museie involvement in other autoimmune disorders 96
References 103
6 Muscular dystrophies 106
6.1 Duchenne muscular dystrophy 106
6.2 Becker muscular dystrophy 114
6.3 Other X-linked dystrophies 115
6.4 Limb-girdle muscular dystrophy 115
6.5 Facioscapulohumeral muscular dystrophy 119
6.6 Distal myopathies 120
6.7 Myotonie dystrophy 121
6.8 Ocular myopathies and oculopharyngeal dystrophy 126
References 127
7 'Benign' myopathies of childhood 130
7.1 Nemaline myopathy 131
7.2 Central core disease 134
7.3 Centronuclear (myotubular) myopathy 138
7.4 Congenital fibre-type disproportion 140
7.5 Myopathy with tubular aggregates 144
7.6 Failure of fibre-type differentiation 144
7.7 Other benign myopathies of childhood 144
7.8 Congenital muscular dystrophy 144
References 146
8 Metabolie, endocrine and drug-induced myopathies 148
8.1 Metabolie myopathies 148
8.2 Endocrine myopathies 169
8.3 Drug-induced myopathies 171
References 174
9 N eurogenic disorders 177
9.1 Spinal muscular atrophies 177
9.2 Motor neuron disease 185
9.3 Other disorders of anterior horn cells and ventral roots 191
9.4 Polyneuropathies 192
9.5 Mononeuropathies 196
References 196
Contents vii
10 Tumours of striated muscle and related disorders 198
In collaboration with Jon van der Walt
10.1 Primary tumours arising in muscle 198
10.2 Tumours of muscle 200
10.3 Tumours of fibrous tissue 205
10.4 Fibrohistiocytie tumours 206
10.5 Tumours of fat 209
10.6 Tumours of blood vessels 212
10.7 Tumours of peripheral nerves 214
10.8 Other tumours that may arise in muscle 217
10.9 Masses that mirnie tumours (pseudotumours) 220
Conclusion 222
References 222
11 Interpretation of the muscle biopsy 225
11.1 Is the biopsy abnormal? 225
11.2 Myopathie or neurogenie? 226
11.3 Specific morphological changes in myopathies 227
11.4 Signifieance of some morphologieal abnormalities in
muscle fibres 229
11.5 Relation of pathological change to clinieal disability or
stage of disorder 230
11.6 Are sequential biopsies useful? 231
Index 232
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
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 1984. We hope that this book will continue to
be used as a practical guide in the diagnosis and understanding of these
disorders.