Lan Zhou - A Case-Based Guide to Neuromuscular Pathology

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We present this book, A Case-Based Guide to Neuromuscular Pathology , to neurologists, pathologists, and other practitioners who take care of patients with neuromuscular diseases.

Biopsy of skeletal muscle and peripheral nerve with histopathological interpretation is frequently requested by neurologists to evaluate patients with myopathies and neuropathies as a part of the clinical workup and management. Muscle biopsy plays an important role in the diagnosis and classification of inflammatory myopathies, metabolic myopathies, congenital myopathies, muscular dystrophies, and toxic myopathies. Nerve biopsy is essential for diagnosing vasculitic neuropathy, amyloid neuropathy, infectious neuropathies, and neuropathies caused by malignant cellular infiltration of nerves. Although muscle and nerve biopsies are less frequently performed in the era of molecular testing, biopsies are still useful in many cases, as the sensitivity of many genetic tests in identifying pathological mutations in hereditary myopathies and neuropathies is not high. Moreover, biopsies can be extremely valuable in the initial characterization of some myopathies and neuropathies and can be used to direct subsequent genetic testing for specific hereditary myopathies and neuropathies. In addition, skin biopsy for the evaluation of intraepidermal nerve fiber density has emerged as the gold standard for diagnosing small fiber neuropathy and has been increasingly utilized by neuromuscular specialists.

This book covers the entire spectrum of neuromuscular pathology including skeletal muscle, peripheral nerve, and skin biopsies with biopsy interpretation. It comprises three parts. Part 1 uses three introductory chapters to review muscle, nerve, and skin biopsy indications and procedures, biopsy specimen handling and processing, utility of individual stains, normal muscle and nerve histology, and common muscle and nerve pathology. The 28 myopathy case chapters in Part 2 and 11 neuropathy case chapters in Part 3, collected from our practice over many years, illustrate the clinical and pathological features of these entities, demonstrate the indications and utilities of biopsies, discuss clinical and pathological differential diagnosis, update the individual disease management, and summarize pertinent clinical and pathology pearls for each case.

This book is intended to help neurologists understand the utility of muscle, nerve, and skin biopsies, correctly order these biopsies, become more familiar with neuromuscular pathology, perform clinical and pathological correlations, and make sound clinical decisions for management of patients with neuromuscular diseases based on biopsy findings. The book will help neurology residents and neuromuscular fellows answer questions related to the muscle and nerve pathology in their in-service and board exams. It is our hope that this book will also benefit neuromuscular pathologists and trainees as they correlate morphological alterations in muscle and nerve biopsies with clinical presentations and communicate their findings to clinical colleagues caring for patients with neuromuscular disorders.

We are enormously grateful to the authors of this book, who are experienced neuromuscular specialists and neuropathologists with sophisticated knowledge and expertise in neuromuscular medicine and pathology. We thank Springer for publishing this book, and thank Michael Wilt and other members in Springer for their excellent editorial support.