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
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
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.