Biopsy Diagnosis of Peripheral Neuropathy

Biopsy Diagnosis of Peripheral Neuropathy Juan M. Bilbao • Robert E. Schmidt Biopsy Diagnosis of Peripheral Neuropathy Second Edition Juan M. Bilbao, MD, FRCP (C) Robert E. Schmidt, MD, PhD Professor Emeritus of Neuropathology Professor of Pathology and Immunology Director Sunnybrook and St Michael’s Hospitals Division of Neuropathology University of Toronto Department of Pathology Toronto , ON Washington University School of Medicine Canada St. Louis , MO USA First published in 1995 by Butterworth-Heinemann, an imprint of Elsevier with the following title: Biopsy Diagnosis of Peripheral Neuropathy ISBN 978-3-319-07310-1 ISBN 978-3-319-07311-8 (eBook) DOI 10.1007/978-3-319-07311-8 Springer Cham Heidelberg New York Dordrecht London Library of Congress Control Number: 2014946574 © Springer International Publishing Switzerland 2015 This work is subject to copyright. 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Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com) Foreword Neurologists specializing on the peripheral nervous system like to boast that theirs is the only area of neurology with no “black box”: All connections are known and there is a good understanding of the correlation between the pathological processes, electrophysiological fi ndings, and clinical signs and symptoms. However, prior to the 1995 publication of Midroni and Bilbao “Biopsy Diagnosis of Peripheral Neuropathy” pathological diagnosis was a muddy fi eld obscured by the absence of guidance on how to handle and examine the biopsy, scarcity of high quality images, and over-emphasis on morphometry and nerve fi ber teasing. Their book allowed those of us entering the fi eld from different disciplines to decide when to order a nerve biopsy, and to fully understand the clinical implications of the fi ndings on the one hand, and provided us with the intellectual tools to reach a pathological diagnosis on the other. Almost 20 years have gone by, and molecular genetics is now a major player in the diagnosis of peripheral neuropathy. While the number of nerve biopsies has decreased, their importance has not. Furthermore the detailed understanding of the underlying pathological process is critical to the care of patients with peripheral neuropathy, even those who do not undergo a biopsy. In the new edition, Drs. Bilbao and Schmidt have updated the book, incorporating the molecular advances into the fully integrated contributions of the clinical data and histology to the diagnostic process. They also introduce a condensed review of current developments in the use of skin biopsy for the study of peripheral neuropathy. The book is consistently thorough in its review of the literature, clear in its exposition, and balanced in its assessment of the value of procedures. It is, however, the superb quality of the images that will remain in the minds of most readers as the main vehicle through which understanding of the pathological processes discussed in the book is achieved. The convenience of this monograph lies in that it is also a work of reference, since much of it consists of detailed descriptions of the various clinical and physiopathological manifestations of diseases. I highly recommend this book to any neurolo- gist or pathologist seeking guidance in the study of the peripheral nervous system. It will be as useful to those using a microscope as to those who do not. David G. Munoz, MD Division of Pathology, St. Michael’s Hospital Toronto, ON, Canada Department of Laboratory Medicine and Pathobiology University of Toronto Toronto, ON, Canada v Pref ace This book represents a thorough revision of the text (with the addition of new cases) and illustrations of the monograph entitled Biopsy Diagnosis of Peripheral Neuropathy published in 1995 and authored by Gyl Midroni and Juan M. Bilbao (Butterworth and Heinemann, publisher). We designed this second edition to present current comprehensive knowledge of the pathology and pathogenetic mechanisms of peripheral nerve disease for pathologists involved in the interpretation of nerve biopsies as well as neurologists, neuropathologists and neurosci- entists in training. The fi rst eight chapters present the normal anatomy of peripheral nerve and its cellular constituents, assessment of the biopsy (how to blow away the cobwebs of artefacts), followed by discussions of basic pathologic processes, and of the role of whole nerve biopsy in diagnosis of peripheral neuropathy compared to other techniques of nerve analysis. Following this introduction, the traditional categories of nerve diseases are organized in 13 chapters and the spectrum of microscopic pathology is illustrated profusely. Over the past 20 years, the impact of molecular genetics on the diagnostic accuracy and understanding of the pathogenesis of peripheral neuropathy has been enormous. The fi rst and still major causal genetic defect for inherited peripheral neuropathies, the CMT1A duplication of the PMP-22 gene, was discovered in 1991. Since that time, our knowledge of the molecular genetic groundwork of this group of diseases has grown considerably. By applying next- generation genetic techniques, well over 70 causal genes are now identifi ed in patients affected with Charcot-Marie-Tooth disease and cognate disorders alone. Similarly, direct DNA sequenc- ing permits the diagnosis of most of the hereditary amyloidoses that are associated with peripheral neuropathy. Consequently, the indications for nerve biopsy in these suspected entities have sharply declined. Nonetheless, nerve biopsy represents the gold standard to which other test results and pathogenetic mechanisms have been and are compared. Valid requests for whole nerve biopsy include a search for an interstitial pathological process (vasculitis, and amyloid infi ltration in non-secretory myeloma), diagnosis of a hereditary polyneuropathy when genetic-molecular studies are not helpful and the phenotype is atypical, confi rmation of the diagnosis of Guillain- Barre syndrome or chronic demyelinating infl ammatory polyneuropathy with atypical fi ndings, and diagnosis of a protracted polyneuropathy with negative or incongruous lab studies results (i.e. sarcoidosis, diabetic neuropathy with prominent motor fi ndings). In Chaps. 1 and 17 , we discuss the role of skin biopsies in the evaluation of small fi ber neuropathy, a technique which may obviate the need for sural nerve biopsy. This method permits visualization and quantifi cation of intraepidermal (unmyelinated) nerve fi bers. Furthermore, glabrous skin biopsy has recently been established to be useful for the assessment of dermal myelinated fi bers and for the detection of infl ammation and Ig deposits. Quantifi cation of the myelinated endings and mechanoreceptors in glabrous skin can expand the role of skin biopsy to include all distal sensory axonopathies. Nonetheless, it remains unproven if the results of skin biopsy alone will provide the overall diagnostic insight possible with whole nerve biopsy. We are grateful to Ms. Sandra Cohen for providing many of the electron photomicrographs, and to Dr. Gyl Midroni for advice. Dr. Charles Kassardjian gave valuable suggestions in updat- ing Chaps. 1 and 8 . We are especially indebted to Drs. Maria Nolano, William Kennedy, and Jun Li for providing many elegant and informative confocal photomicrographs of skin vii viii Preface preparations showing normal and abnormal innervation (see Chap. 1 ). Drs. Shinji Ohara, Mitsunori Yamada and Hitoshi Takahashi provided us their material for the AMAN case pre- sented. We would also like to thank Karen Green, Chris Dunham, Toral Patel, Connie Marshall and William Kraft, our EM colleagues at Washington University. Ms. Jordana Stewart provided secretarial assistance. Ms. Martina Himberger, who has been in charge of the work for Springer, has been infi nitely helpful. Dr. Schmidt would like to thank his wife

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