A Case-Based Guide to Neuromuscular Pathology

Part I: Introduction to Neuromuscular Pathology Evaluation
1 Skeletal Muscle Biopsy Evaluation Dennis K. Burns
2 Peripheral Nerve Biopsy Evaluation Chunyu Cai
3 Skin Biopsy with Cutaneous Nerve Fiber Evaluation Lan Zhou

Part II: Myopathy Cases
4 A 20-year-old man with acute multi-organ failure and rhabdomyolysis Lan Zhou and Susan C. Shin
5 A 45-year-old woman with proximal limb weakness and skin peeling on fingertips Lan Zhou, Susan C. Shin, and Chunyu Cai
6 A 75-year-old man with leg and hand weakness Lan Zhou and Chunyu Cai
7 A 53-year-old woman with proximal limb weakness and marked CK elevation Lan Zhou and Chunyu Cai
8 A 61-year-old woman with distal limb and deltoid weakness Lan Zhou
9 A 63-year-old woman with debilitating muscle pain Lan Zhou
10 A 33-year-old woman with pain and swelling in the right calf and persistent fever Lan Zhou, Laura Stein, and Susan C. Shin
11 A 28-year-old woman with proximal limb weakness and scapular winging Jaya R. Trivedi, Chunyu Cai, and Rahul Abhyankar
12 A 52-year-old man with proximal limb weakness and hand stiffness Lan Zhou and Susan C. Shin
13 A 51-year-old woman with long-standing exercise intolerance Lan Zhou
14 A 37-year-old woman with leg weakness Elisabeth Golden and Lan Zhou
15 A 25-year-old woman with droopy eyelids and double vision Lan Zhou and Chunyu Cai
16 A 58-year-old man with hypercapnic respiratory failure Lan Zhou, Patrick Kwon, and Susan C. Shin
17 A 65-year-old man with asymmetrical leg weakness and foot tingling Lan Zhou and Chunyu Cai
18 A 40-year-old man with muscle pain and fatigue Lan Zhou
19 A 42-year-old woman with progressive limb weakness and breathing difficulty Lan Zhou and Dennis K Burns
20 A 49-year-old man with limb weakness and skin changes Kara Stavros, Rajeev Motiwala, Lan Zhou, and Susan C. Shin
21 A 54-year-old man with lower limb weakness Lan Zhou
22 A 63-year-old man with progressive limb weakness and slurred speech Lan Zhou and Susan C. Shin
23 A 6-year-old girl with muscle pain and swelling in the thighs Diana P. Castro, Chunyu Cai, and Dustin Jacob Paul
24 A 4-year-old boy with progressive weakness, difficulty walking and running, and increased falls Diana P. Castro, Chunyu Cai, and Dustin Jacob Paul
25 A 2-year-old girl with hypotonia since birth and delayed motor and speech development Diana P. Castro, Chunyu Cai, Dustin Jacob Paul
26 An 8-year-old boy with delayed motor milestones and proximal leg muscle weakness Partha S. Ghosh and Hart G. W. Lidov
27 A 6-year-old-boy with proximal leg muscle weakness and facial weakness Partha S. Ghosh and Hart G. W. Lidov
28 A 6-week-old boy with neonatal hypotonia and feeding and respiratory difficulties Partha S. Ghosh and Hart G. W. Lidov
29 A 6-year-old boy with respiratory and feeding difficulties at birth, delayed gross motor milestones, and facial and proximal lower limb weakness Partha S. Ghosh and Chunyu Cai
30 A 12-year-old girl with a 2-year history of progressive weakness and difficulties with exercise Diana P. Castro, Chunyu Cai, and Dustin Jacob Paul
31 A 3-month-old boy with generalized hypotonia, weakness, pneumonia and respiratory failure Diana P. Castro, Chunyu Cai, and Dustin Jacob Paul

Part III: Neuropathy Cases
32 A 59-year-old woman with subacute lower limb weakness and painful paresthesia Shaida Khan and Chunyu Cai
33 A 63-year-old man with nausea, vomiting, orthostatic dizziness, and distal limb paresthesia Jeffrey L. Elliott, Lan Zhou, Chunyu Cai, and Michelle Kaku
34 A 47-year-old woman with progressive numbness and weakness in the limbs Lingchao Meng, Yun Yuan, and Shan Chen
35 A 65-year-old woman with acute limb weakness and worsening of paresthesia Susan C. Shin, Michelle Kaku, and Lan Zhou
36 A 34-year-old man with right hand and left foot numbness Sharon P. Nations and Dennis K. Burns
37 A 64-year-old woman with progressive pain, numbness and weakness in the right lower limb Lan Zhou, Susan Morgello, Rajeev Motiwala, and Susan C. Shin
38 A 68-year-old man with progressive lower limb numbness and weakness and urinary incontinence Lan Zhou, Susan Morgello, and Susan C. Shin
39 A 53-year-old woman with pain, burning, tingling, and numbness in the distal limbs Lan Zhou
40 A 40-year-old woman with patchy painful paresthesia Lan Zhou
41 A 39-year-old woman with intermittent bilateral foot and leg pain since childhood Ryan Castoro, Jun Li, and Lan Zhou
42 A 35-year-old man with pain and numbness in the left lateral thigh Lan Zhou

This book provides a practical guide to the field of neuromuscular pathology including muscle, peripheral nerve, and skin biopsies with biopsy interpretation. Divided into three parts, the book begins with introductory chapters that review muscle, nerve, and skin biopsy indications and procedures, 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 illustrate the clinical and pathological features of many neuromuscular diseases, 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.

A Case-Based Guide to Neuromuscular Pathology will function as an indispensable reference for neurologists and pathologists looking to understand the utility of muscle, nerve, and skin biopsies. This book will also aid neurology residents, neuromuscular fellows and neuropathology fellows in preparing for questions related to the muscle and nerve pathology in their in-service and board exams.

Lan Zhou, MD, PhD Departments of Neurology and Pathology Boston University Medical Center Boston, MA USA

Dennis K. Burns, MD Department of Pathology Neuropathology Section The University of Texas Southwestern Medical Center Dallas, TX USA

Chunyu Cai, MD, PhD Department of Pathology The University of Texas Southwestern Medical Center Dallas, TX