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Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics, 2nd Edition

ISBN: 9780323761741
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Patients don’t present with a disease; they present with symptoms.  Using a practical, symptom-based organization, Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics, 2nd Edition, offers authoritative guidance on differential diagnosis and treatment of diseases and disorders in children and adolescents, and covers the symptoms you’re likely to see in practice, their mimics, and uncommon disorders. Drs. Robert M. Kliegman, Heather Toth, Brett J. Bordini, and Donald Basel walk you through what to consider and how to proceed when faced with common symptoms such as cough, fever, headache, autistic-like behaviors, chronic pain, chest pain, gait disturbances, and much more.
Key Features
  • Begins with a presenting symptom and leads you through differential diagnosis and a concise review of treatment recommendations.
  • Contains more than a dozen new topics including Disease Mimics: An Approach to Undiagnosed Diseases, Autistic-like Behaviors, Shock, Hypertension, Neurocognitive and Developmental Regression, Chronic Pain, Hypertonicity, Movement Disorders, Hypermobility, and more.
  • Features a new focus on symptoms of rarer diseases that are mimics of more common diseases.
  • Offers a user-friendly approach to Altered Mental Status such as coma and other CNS disorders, with numerous clinically useful tables and figures to guide clinical decision making in various care settings.
  • Uses a highly templated format for easy reference and quick answers to clinical questions, with the same consistent presentation in each chapter: History, Physical Examination, Diagnosis (including laboratory tests), Imaging, Diagnosis, and Treatment.
  • Includes numerous full-color illustrations, algorithms, tables, and “red flags” to aid differential diagnosis.
  • Serves as an ideal companion to Nelson Textbook of Pediatrics, 21st Edition. Content in this book is referenced and linked electronically to the larger text, providing easy access to full background and evidence-based treatment and management content when you own both references.
  • Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Author Information
Edited by Robert M. Kliegman, MD, Professor & Chair Emeritus, Department of Pediatrics – Medical College of Wisconsin Nelson Undiagnosed & Rare Disease Program ; Heather Toth, MD, Associate Professor, Program Director, Internal Medicine-Pediatrics Residency Program, Hospitalist, Departments of Medicine and Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin; Brett J. Bordini, MD, Assistant Professor of Pediatrics, Section of Hospital Medicine, Assistant Professor of Global Health, Medical College of Wisconsin, Milwaukee, WI and Donald Basel, MD, Section Chief and Professor, Pediatrics (Genetics), Associate Director, Undiagnosed & Rare Diseases, Genomic Sciences and Precision Medicine Center, Medical Director, Genetics Center, Children’s Wisconsin, Co-program Director, Neurofibromatosis and RASopathy, Children’s Wisconsin

Περιεχόμενα

Cover image
Title page
Table of Contents
Copyright
Dedication
Contributors
Preface
Section 1. Symptom-Based Diagnosis
1. Disease Mimics: An Approach to Undiagnosed Diseases
Diagnosis: It All Starts with a Symptom
Diagnosis as an Iterative Process
Diagnosis as a Collaborative Process and the Team-Based Approach
Section 2. Respiratory Disorders
2. Sore Throat
Viral Pharyngitis
Infectious Mononucleosis
Bacterial Pharyngitis
Infection with Streptococci That Are Not Group A (Non-A Streptococci)
Gonococcal Pharyngitis
Chlamydial and Mycoplasmal Infections
Oral-Pharyngeal Facial Space Pain
3. Cough
Introduction
When Cough Itself Is a Problem
4. Respiratory Distress
Diagnostic Approach
History
Physical Examination
Laboratory Tests
Imaging
Causes of Respiratory Distress
Nonpulmonary Causes of Respiratory Distress
5. Earache
History
Physical Examination
Diagnostic Tests
Differential Diagnosis
Otitis Externa
Necrotizing (Malignant) Otitis Externa
Acute Otitis Media
Otitis Media with Effusion
Mastoiditis
Cholesteatoma
Intracranial Complications
6. Apparent Life-Threatening Event/Brief Resolved Unexplained Event
Definition
Epidemiology
Etiology
Clinical Evaluation
Differential Diagnosis by System
Section 3. Cardiac Disorders
7. Syncope and Dizziness
Syncope
Neurocardiogenic Syncope
Orthostatic Syncope
Postural Orthostatic Tachycardia Syndrome
Cardiac Syncope/Sudden Cardiac Death
Neurologic Causes of Syncope-Like Episodes
Metabolic Causes of Syncope
Syncopal-Like Episodes in Infants and Toddlers
Psychiatric Causes of Syncope
Evaluation of the Syncopal Child
Summary and Red Flags
Vertigo
Evaluation of the Patient with Vertigo
Summary and Red Flags
Disequilibrium
Summary and Red Flags
Lightheadedness
Evaluation of the Patient with Lightheadedness
Summary and Red Flags
8. Chest Pain
Causes of Chest Pain
Approach to the Patient with Chest Pain
9. Murmurs
The Thorax
Origins of the Heart Sounds
The Cardiac Cycle
Changes in the Circulation at Birth
Normal Intracardiac Pressures
Pediatric Cardiovascular Evaluation
Symptoms and Signs of Heart Disease
Cardiovascular Assessment
Classification of Cardiac Murmurs
Pediatric Murmur Evaluation
Systolic Murmurs
Diastolic Murmurs
Continuous Murmurs
Murmurs in Children with Normal Hearts
Murmurs Caused by Common Lesions with Left-to-Right Shunt
Patent Ductus Arteriosus
Ventricular Septal Defects
Complete Atrioventricular Septal Defects
Murmurs Caused by Common Lesions with Right-to-Left Shunt and Cyanosis
Tricuspid Valve Atresia
Pulmonary Atresia with Intact Ventricular Septum
Transposition of the Great Arteries
Hypoplastic Left Heart Syndrome
Murmurs Caused by Common Lesions with Simple Obstruction
Pulmonary Valve Stenosis
Aortic Valve Stenosis
Coarctation of the Aorta
Mitral Valve Stenosis
Murmurs Caused by Atrioventricular Valve and Semilunar Valve Insufficiency
Miscellaneous Cardiac Anomalies
Pulmonary Hypertension
Approach to Congenital Heart Disease
Acute Rheumatic Fever and Rheumatic Heart Disease
Infective Endocarditis
Summary and Red Flags
10. Shock
What Is Shock: Pathophysiology
Key Historical Elements to Aid in Diagnosis and Etiology of Shock
Physical Examination to Assess and Manage Shock
Diagnostic Evaluation of Shock
Types of Shock
Pediatric Septic Shock
First Critical Actions in the Evaluation and Treatment of Shock
Anaphylaxis
11. Hypertension
Presentation
Etiology
Infantile Hypertension
Childhood Hypertension
Evaluation
Investigation of Infantile Hypertension
Investigation of Symptomatic Childhood Hypertension (Fig. 11.2 and Table 11.10)
Red Flags
Section 4. Gastrointestinal Disorders
12. Failure to Thrive
Normal Growth
Definitions
Interpretation of Growth Charts
Epidemiology
Clinical Presentation
Approach to Determining Etiology
Overall Approach to Management
Nutritional Supplementation for the Older Infant and Child
Children with Special Health Care Needs
Criteria for Hospitalization
Monitoring
Long-Term Outcomes
Protein Energy Malnutrition
13. Abdominal Pain
Pathophysiology of Abdominal Pain
Acute Abdominal Pain
Specific Causes of Acute Abdominal Pain
Chronic Abdominal Pain
Making a Diagnosis of Functional Abdominal Pain
14. Diarrhea
Acute Diarrhea
Chronic Diarrhea
15. Vomiting and Regurgitation
Definitions
Neuroanatomy of Vomiting
Neurochemical Basis of Vomiting
Data to Guide the Diagnosis
16. Gastrointestinal Bleeding
Definitions
Approach to Gastrointestinal Bleeding
Hematemesis and Melena: Upper Gastrointestinal Bleed
Hematochezia: Lower Gastrointestinal Bleed
Occult Gastrointestinal Bleeding
Diagnostic Evaluations
Summary and Red Flags
17. Hepatomegaly
Assessment of the Liver
Evaluation of the Child with Hepatomegaly
Specific Issues in the Diagnosis and Treatment of Hepatomegaly
18. Jaundice
Diagnostic Strategies
Jaundice in the Neonate and Infant
Jaundice in the Child and Adolescent
19. Constipation
Physiology of Normal Defecation and Constipation
Data Collection and Assessment
Differential Diagnosis
Encopresis
20. Abdominal Masses
Diagnostic Strategies
Splenomegaly
Splenectomy
Neuroblastoma
Renal Masses
Liver Tumors
Congenital Dilatation of the Bile Ducts
Intestinal and Pancreatic Masses
Ovarian Tumors
Soft Tissue Sarcoma
Section 5. Genitourinary Disorders
21. Dysuria
Neonates
Children 2–24 Months of Age
Preschool Children
School-Aged/Prepubertal Children
Adolescents
22. Proteinuria
Nephrotic Syndrome in Young Children
Minimal Change Disease
Other Forms of Nephrotic Syndrome
Nephrotic Syndrome in Infants Younger Than 1 Year
Asymptomatic Proteinuria Disorders
23. Hematuria
Gross Hematuria
Microscopic Hematuria
More Common Causes of Hematuria
Uncommon Causes of Hematuria in Childhood
24. Acute and Chronic Scrotal Swelling
Scrotal and Inguinal Anatomy
Diagnostic Strategies
Differential Diagnosis
Torsion of the Appendix Testis
Epididymitis, Epididymoorchitis, and Orchitis
Trauma and Hematocele
Varicocele
Inguinal Hernia
Hydrocele
Testicular Tumors
Meconium Peritonitis
Scrotal Wall Swelling
Referred Pain
Red Flags
25. Menstrual Problems and Vaginal Bleeding
Prepubertal Vaginal Bleeding
Abnormal Bleeding in Adolescence
Review of the Menstrual Cycle
Pregnancy
Coagulopathy
Ovulatory Dysfunction
Endometrial Causes
Iatrogenic Causes
Not Yet Classified
Structural Causes: PALM
Congenital Anomalies
Treatment
Menstrual Pain in Adolescents
Summary and Red Flags
26. Disorders of Sex Development
Overview of Sex Differentiation
Overview of Gonadal Function
Diagnostic Approach to the Patient with Atypical or Ambiguous Genitalia
Basic Approaches to the Diagnosis and Management of Disorders of Sex Development
Specific Types of Disorders of Sex Development
Red Flags
Section 6. Developmental and Psychiatric Disorders
27. Intellectual Developmental Disorders (Developmental Delay)
Definitions
Epidemiology
Diagnosis
Identification
Screening for Specific Abnormalities
Identification of Children with Developmental Disabilities in Primary Health Care Settings
Comprehensive Developmental Assessment
Formal Neurodevelopmental Assessments
Diagnostic Strategy
Laboratory Testing
Specific Conditions
Treatment
Pitfalls and Hazards in Developmental Diagnosis
28. Neurocognitive and Developmental Regression
Diagnostic Approach
Genetic Evaluation
Summary and Red Flags
29. Dysmorphology
Diagnostic Approaches
Teratology
Birth Defects
Clinical Classification
Dysmorphic Evaluation
Assembling the Data
Minimal Diagnostic Criteria
Tools to Assist the Diagnostic Odyssey
30. The Irritable Infant
Diagnostic Approach
Addressing Caregivers’ Response to Crying
Specific Diagnoses
31. Emotional and Behavioral Symptoms
Conditions Characterized by Abnormal Behaviors
Conditions Characterized by Disruption in Mood
Conditions Characterized by Worry, Fear, and Panic
Conditions Characterized by Mental Status Abnormalities
Conditions Characterized by Physical Findings or Complaints
32. Autistic-like Behaviors
Diagnostic Criteria
Medical Work-Up
Genetic Testing and Diagnosis
Genetic Disorders That Co-Occur With Autism Spectrum Disorder
Metabolic Disorders That Present with Autistic-Like Features
33. Chronic Pain
Chronic Pain
Summary and Red Flags
Section 7. Neurosensory Disorders
34. Headaches
History
Physical Examination
Neuroimaging
Laboratory Investigations
Classification of Headaches
35. Hypotonia and Weakness
Muscle Weakness and Hypotonia
Evaluating Hypotonia
Hypotonic Infant
Weak Child
36. Rhabdomyolysis
Rhabdomyolysis
Hospital Follow-Up
Diseases
Infectious
Trauma
Drug/Toxin
Muscle Disease
Myopathies
Glycogen Metabolism/McArdle DISEASE
37. Stroke
Definitions
The Symptoms of Stroke
Stroke Syndromes by Age
Perinatal Stroke
Stroke in Children
Stroke in Adolescents
Causes of Stroke Unrelated to Age
38. Hypertonicity
Definitions
History
Cerebral Palsy
Hereditary Hyperekplexia
Stiff Person Syndrome
Tetanus
Myogenic Etiologies of Hypertonicity
Drug-Related Hypertonicity
Opisthotonus
39. Paroxysmal Disorders
History
Physical Examination
Red Flags
Paroxysmal Spells of Altered Behavior or Movement
Epileptic Seizures
Epidemiology and Causes of Seizures and Epilepsy
Genetics
Seizure Classification and Terminology
Focal Seizures
Diagnostic Evaluation of a Seizure Disorder
Status Epilepticus
Classification of Epilepsies and Epileptic Syndromes
Rare Status Epilepticus Syndromes
Principles of Antiepileptic Drug Use
Lifestyle
40. Movement Disorders in Childhood
Movement Disorders
Chief Complaint
History
Physical Examination
Dystonia
Chorea/Athetosis/Ballismus
Ataxia
Tremor
Tics
Stereotypies
Myoclonus
Dyskinetic Cerebral Palsy
Conditions That Mimic Movement Disorders
41. Altered Mental Status
Altered Mental Status
Altered States of Consciousness
Detailed Investigation
Trauma
Primary Brain Diseases
Intracranial Tumor
Toxic Encephalopathy
Metabolic Encephalopathies
42. Encephalitis
Etiology
Diagnostic Emergencies: Other Diseases to Exclude
COVID-19 ASSOCIATED CNS MANIFESTATIONS
43. Eye Disorders
Eye and Visual System Anatomy
Development of the Eye and Visual System
Amblyopia and Vision Screening
Visual Fields
Strabismus
Refractive Errors
Vision Impairment in Children
Retinopathy of Prematurity
Leukocoria and Retinoblastoma
Childhood Cataracts
Glaucoma in Childhood
Childhood Uveitis
Nasolacrimal Problems in Childhood
Red Eye
Eyelid Abnormalities
Orbital Tumors
Ocular Manifestations of Systemic Disease
Nystagmus
Ocular Trauma
Functional Vision Loss
Visual Complaints of Children
Section 8. Musculoskeletal Disorders
44. Arthritis
History
Review of Systems
Physical Examination
Laboratory Studies
Diagnostic Imaging
Juvenile Idiopathic Arthritis
Systemic Lupus Erythematosus
Dermatomyositis
Scleroderma
Rheumatic Fever
IGA Vasculitis/Henoch-Schönlein Purpura
Myalgia
Complex Regional Pain Syndrome
45. Gait Disturbances
Gait Cycle
Development of Gait
Clinical Evaluation of Gait Disturbances
Gait Disturbances
46. Back Pain
Normal Anatomy, Growth, and Development of the Spine
Normal Spinal Alignment
Evaluation of the Pediatric Spine
Back Pain of Brief Duration
Persistent Back Pain
Specific Diagnoses
47. Hypermobility
Evaluating Hypermobility
Connective Tissue and Its Role in These Disorders
Diagnostic Characterization of Hypermobility
Closing Considerations
Section 9. Hematologic Disorders
48. Lymphadenopathy and Neck Masses
Mechanism of Lymphadenopathy
Developmental Anomalies and Soft Tissue Tumors
49. Pallor and Anemia
History
Physical Examination
Laboratory Evaluation
Classification of Anemia
Diagnostic Work-up
Differential Diagnosis of Anemia
Anemia in the Neonate
50. Pancytopenia/Aplastic Anemia/Bone Marrow Failure
History
Hypocellular Marrow
Acquired
Red Flags
51. Bleeding and Thrombosis
Coagulation Cascade
Coagulation Inhibitors
Platelet-Endothelial Cells Axis
Developmental Hemostasis
Clues from History and Physical Examination
Mucocutaneous Bleeding
Deep Bleeding
Generalized Bleeding
Thrombosis
Anticoagulant Therapy
Section 10. Infectious Diseases/Immune/Inflammation
52. Fever
Definitions
Pathophysiology of Fever
Fever Without Source
Fever of Unknown Origin
53. Fever and Rash
Fever and Rash
54. Recurrent Fever, Immune Deficiency, and Autoinflammatory Disorders
History and Physical Examination
Asplenia
The Patient with Hereditary Inflammatory Disorders
The Immunodeficient Patient
Humoral Immune Disorders
Combined Immunodeficiency Disorders
Combined Immune Deficiencies
Immunodeficiencies with Syndromic Features
Complement System Deficiencies
Phagocytic Disorders
Disorders of Macrophage Function
Immune Disregulation Syndromes
Section 11. Endocrine and Metabolic Disorders
55. Disorders of Puberty
Normal Pubertal Development
Precocious Puberty
Delayed or Absent Puberty
56. Short Stature
Definition
Fetal Growth and Birth Size
Measuring a Child
Body Proportions
General Well-Being
Bone Age
Endocrine Disorders
Hypothyroidism
Bone Dysplasias
Evaluating the Child with Short Stature
Important Considerations in the History
Therapeutic Options
Other Treatments
57. Hypoglycemia
Definition of Hypoglycemia
Regulation of Blood Glucose Concentration
Clinical Manifestations
Causes of Transient Neonatal Hypoglycemia
Causes of Persistent Hypoglycemia in Infants and Children
Diagnosis of Hypoglycemia
Treatment of Hypoglycemia
58. Polyuria and Urinary Incontinence
Polyuria and Urinary Incontinence
Voiding Physiology
Toilet Training
Urine Volume and Solute Diuresis
59. Acid–Base and Electrolyte Disturbances
Acid–Base Balance
Acid–Base Disorders
Symptoms of Acid–Base Disorders
Renal Regulation of Acid–Base Balance
Metabolic Acidosis
Metabolic Alkalosis
Respiratory Acidosis
Respiratory Alkalosis
Mixed Acid–Base Disorders
Potassium Disorders
Hypokalemia
Hyperkalemia
Sodium Disorders
Hyponatremia
Hypernatremia
Calcium Disorders
Rickets
Section 12. Dermatology
60. Congenital Cutaneous Lesions and Infantile Rashes
Rashes (Table 60.1)
Fixed Lesions
Transient and Physiologic Changes to the Skin
Rare and Genetic Disorders
61. Acquired Rashes in the Older Child
History, Physical Examination, and Diagnostic Procedures
Dermatologic Disorders in Older Infants and Children
Disorders of Pigmentation
Reactive Erythemas
Hypersensitivity Reactions
Bullous Lesions
Purpura and Petechiae
Hair Loss
Infections and Infestations
Acne Vulgaris
Lumps and Bumps
Index