Preface
Contents
Contributors
Part I: Introduction to Neuromuscular Pathology Evaluation
Chapter 1: Skeletal Muscle Biopsy Evaluation
Introduction
Muscle Biopsy Acquisition
Initial Processing and Sectioning of Skeletal Muscle Biopsies
Routine Histological Stains
Non-enzymatic Stains (Frozen Sections)
Enzyme Histochemical Stains (Frozen Sections)
Non-enzymatic Staining of Fixed Skeletal Muscle (Paraffin Sections)
Immunohistochemical Stains
Electron Microscopy
Interpretation of the Biopsy
Myofiber Atrophy and Hypertrophy
Myofiber Degeneration, Necrosis and Regeneration
Changes in the Location and Appearance of Myofiber Nuclei
Sarcoplasmic Abnormalities
Changes in Connective Tissue
Cellular Infiltrates
Vascular Changes
Artifacts in Skeletal Muscle Biopsies
References
Chapter 2: Peripheral Nerve Biopsy Evaluation
Introduction
Nerve Biopsy Acquisition
Specimen Processing Procedure
Routine Stains and Utilities
Hematoxylin and Eosin (H&E)
Congo Red Stain
Toluidine Blue Stained Plastic Sections
Electron Microscopy (EM)
Teased Fiber Analysis
Special Stains and Utilities
Immunostains
References
Chapter 3: Skin Biopsy with Cutaneous Nerve Fiber Evaluation
Introduction
Skin Biopsy Procedure
Skin Biopsy Specimen Processing
Small Cutaneous Nerve Fiber Evaluation
Intraepidermal Nerve Fiber Density Evaluation
Intraepidermal Nerve Fiber Morphology Evaluation
Cutaneous Autonomic Nerve Fiber Evaluation
Limited Usefulness of Skin Biopsy in Evaluation of SFN Etiologies
References
Part II: Myopathy Cases
Chapter 4: A 20-Year-Old Man with Acute Multi-organ Failure and Rhabdomyolysis
History
Physical Examination
Investigations
Muscle Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
References
Chapter 5: A 45-Year-Old Woman with Proximal Limb Weakness and Skin Peeling on Fingertips
History
Physical Examination
Investigations
Muscle Biopsy Findings
Additional Investigation After the Muscle Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 6: A 75-Year-Old Man with Slowly Progressive Leg and Hand Weakness
History
Physical Examination
Investigations
Muscle Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 7: A 53-Year-Old Woman with Proximal Limb Weakness and Marked CK Elevation
History
Physical Examination
Investigations
Muscle Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 8: A 61-Year-Old Woman with Progressive Distal Limb and Deltoid Muscle Weakness
History
Physical Examination
Investigations
Muscle Biopsy Findings
Additional Investigations After the Muscle Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 9: A 63-Year-Old Woman with Debilitating Muscle Pain
History
Physical Examination
Investigations
Muscle Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 10: A 33-Year-Old Woman with Pain and Swelling in the Right Calf and Persistent Fever
History
Physical Examination
Investigations
Muscle Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 11: A 28-Year-Old Woman with Proximal Limb Weakness and Scapular Winging
History
Physical Examination
Investigations
Muscle Biopsy Findings
Additional Investigation After Muscle Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 12: A 52-Year-Old Man with Proximal Limb Weakness and Hand Stiffness
History
Physical Examination
Investigations
Muscle Biopsy Findings
Additional Investigation After Muscle Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 13: A 51-Year-Old Woman with Long-Standing Exercise Intolerance
History
Physical Examination
Investigations
Muscle Biopsy Findings
Additional Investigation After the Muscle Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 14: A 37-Year-Old Woman with Leg Weakness and CK Elevation
History
Physical Examination
Investigations
Muscle Biopsy Findings
Additional Investigations After the Muscle Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 15: A 25-Year-Old Woman with Droopy Eyelids and Double Vision
History
Physical Examination
Investigations
Muscle Biopsy Findings
Additional Investigation After the Muscle Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 16: A 58-Year-Old Man with Hypercapnic Respiratory Failure
History
Physical Examination
Investigations
Muscle Biopsy Findings
Additional Investigation After Muscle Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 17: A 65-Year-Old Man with Asymmetrical Leg Weakness and Foot Tingling
History
Physical Examination
Investigations
Muscle Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 18: A 40-Year-Old Man with Muscle Pain and Fatigue
History
Physical Examination
Investigations
Muscle Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 19: A 42-Year-Old Woman with Progressive Limb Weakness and Breathing Difficulty
History
Physical Examination
Investigations
Muscle Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 20: A 49-Year-Old Man with Limb Weakness and Painful Skin Lesions
History
Physical Examination
Investigations
Muscle Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 21: A 54-Year-Old Man with Progressive Lower Limb Weakness and CK Elevation
History
Physical Examination
Investigations
Muscle Biopsy Findings
Additional Investigation After the Muscle Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 22: A 63-Year-Old Man with Progressive Limb Weakness and Slurred Speech
History
Physical Examination
Investigations
Muscle and Nerve Biopsy Findings
Additional Investigation After the Muscle and Nerve Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 23: A 6-Year-Old Girl with Muscle Pain and Swelling in the Thighs
History
Physical Examination
Investigations
Muscle Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 24: A 4-Year-Old Boy with Progressive Weakness, Difficulty Walking and Running, and Increased Falls
History
Physical Examination
Investigations
Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 25: A 2-Year-Old Girl with Hypotonia Since Birth and Delayed Motor and Speech Development
History
Physical Examination
Investigations
Muscle Biopsy Findings
Additional Investigation After the Muscle Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 26: An 8-year-old boy with delayed motor milestones and proximal leg muscle weakness
History
Physical Examination
Investigations
Muscle Biopsy Findings
Additional Investigation After Muscle Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 27: A 6-Year-Old-Boy with Proximal Leg Muscle Weakness and Facial Weakness
History
Physical Examination
Investigations
Muscle Biopsy Findings
Additional Investigation After the Muscle Biopsy Diagnosis
Final Diagnosis
Patient Follow-Up
Discussion
Pearls
References
Chapter 28: A 6-Week-Old Boy with Neonatal Hypotonia and Feeding and Respiratory Difficulties
History
Physical Examination
Investigations
Muscle Biopsy Findings
Additional Investigation After the Muscle Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 29: A 6-Year-Old Boy with Respiratory and Feeding Difficulties at Birth, Delayed Gross Motor Milestones, and Facial and Proximal Lower Limb Weakness
History
Physical Examination
Investigations
Muscle Biopsy Findings
Additional Investigation After the Muscle Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 30: A 12-Year-Old Girl with a 2-Year History of Progressive Limb Weakness and Difficulties with Exercise
History
Physical Examination
Investigations
Muscle Biopsy Findings
Additional Investigation After the Muscle Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 31: A 3-Month-Old Boy with Generalized Hypotonia, Weakness, Pneumonia and Respiratory Failure
History
Physical Examination
Investigations
Muscle Biopsy Findings
Investigations After the Muscle Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Part III: Neuropathy Cases
Chapter 32: A 59-Year-Old Woman with Subacute Lower Limb Weakness and Painful Paresthesia
History
Physical Examination
Investigations
Nerve and Muscle Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 33: A 63-Year-Old Man with Nausea, Vomiting, Orthostatic Dizziness, and Distal Limb Paresthesia
History
Physical Examination
Investigations
Muscle and Nerve Biopsy Findings
Additional Investigation After the Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 34: A 47-year-old woman with progressive numbness and weakness in the limbs
History
Physical Examination
Investigations
Nerve Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 35: A 65-Year-Old Woman with Acute Limb Weakness and Worsening of Paresthesia
History
Physical Examination
Investigations
Nerve and Muscle Biopsy Findings
Additional Investigations After the Nerve and Muscle Biopsy Diagnoses
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 36: A 34-Year-Old Man with Right Hand and Left Foot Numbness
History
Physical Examination
Investigations
Nerve and Skin Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 37: A 64-Year-Old Woman with Progressive Pain, Numbness and Weakness in the Right Lower Limb
History
Physical Examination
Investigations
Nerve Lesion Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 38: A 68-Year-Old Man with Progressive Lower Limb Numbness and Weakness and Urinary Incontinence
History
Physical Examination
Investigations
Nerve and Muscle Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 39: A 53-Year-Old Woman with Pain, Burning, Tingling, and Numbness in the Distal Limbs
History
Physical Examination
Investigations
Skin Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 40: A 40-Year-Old Woman with Patchy Painful Paresthesia
History
Physical Examination
Investigations
Skin Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Chapter 41: A 39-Year-Old Woman with Intermittent Bilateral Foot and Leg Pain since Childhood
History
Physical Examination
Investigations
Skin Biopsy Findings
Investigation After Obtaining the Skin Biopsy Diagnosis
Final Diagnosis
Patient Follow-up
Discussion
References
Chapter 42: A 35-Year-Old Man with Pain and Numbness in the Left Lateral Thigh
History
Physical Examination
Investigations
Skin Biopsy Findings
Final Diagnosis
Patient Follow-up
Discussion
Pearls
References
Index of Cases
Index