Dr. Kliegman and Dr. Bordini have written a primer on Undiagnosed and Rare Diseases in Children. Leading experts have presented the current knowledge in the following areas: How Doctor’s Think: Common Diagnostic Errors in Clinical Judgment; Team-Based Approach to Undiagnosed and Rare Diseases; Ending a Diagnostic Odyssey: Family Education Counselling and Their Response to Eventual Diagnosis; Eczema and Urticaria as Manifestations of Undiagnosed and Rare Diseases; Usual and Unusual Manifestations of Familial Hemophagocytic and Langerhans Cell Histiocytosis Syndromes; When Autistic Behavior Suggests a Disease Other than Classic Autism; Non-classic Inflammatory Bowel Disease in Young Infants; IPEX and Other Disorders; Usual and Unusual Presentation of Mitochondrial Disorders; When to Suspect Auto-inflammatory/Recurrent Fever Syndromes; Primary and Secondary Causes of Autonomic Dysfunction; Usual and Unusual Manifestations of Systemic and CNS Vasculitis; Fever of Unknown Origin; Differentiating Familial Neuropathies from Guillain-Barre Syndrome; and Munchausen by Proxy: A Factitious Undiagnosed Disease. Readers will come away with cutting-edge information to use immediately in their clinical management of patients.
1. Cover image - p. i 2. Title page - p. i 3. Table of Contents - p. i 4. Copyright - p. ii 5. CME Accreditation Page - p. iii 6. Contributors - p. v 7. Forthcoming Issues - p. xiv 8. Foreword - p. xv 9. Preface - p. xvii 10. How Doctors Think: Common Diagnostic Errors in Clinical Judgment—Lessons from an Undiagnosed and Rare Disease Program - p. 1 11. The Team-Based Approach to Undiagnosed and Rare Diseases - p. 17 12. Immunodeficiency Presenting as an Undiagnosed Disease - p. 27 13. Eczema and Urticaria as Manifestations of Undiagnosed and Rare Diseases - p. 39 14. Immune-Mediated Diseases of the Central Nervous System: A Specificity-Focused Diagnostic Paradigm - p. 57 15. Usual and Unusual Manifestations of Familial Hemophagocytic Lymphohistiocytosis and Langerhans Cell Histiocytosis - p. 91 16. When to Suspect Autoinflammatory/Recurrent Fever Syndromes - p. 111 17. When Autistic Behavior Suggests a Disease Other than Classic Autism - p. 127 18. Nonclassic Inflammatory Bowel Disease in Young Infants: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome, and Other Disorders - p. 139 19. Presentation and Diagnostic Evaluation of Mitochondrial Disease - p. 161 20. Unusual Structural Autonomic Disorders Presenting in Pediatrics: Disorders Associated with Hypoventilation and Autonomic Neuropathies - p. 173 21. Usual and Unusual Manifestations of Systemic and Central Nervous System Vasculitis - p. 185 22. Fever of Unknown Origin in Childhood - p. 205 23. Differentiating Familial Neuropathies from Guillain-Barré Syndrome - p. 231 24. The Intersection of Medical Child Abuse and Medical Complexity - p. 253 25. Ending a Diagnostic Odyssey: Family Education, Counseling, and Response to Eventual Diagnosis - p. 265 26. Index - p. 273
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Dr. Kliegman and Dr. Bordini have written a primer on Undiagnosed and Rare Diseases in Children. Leading experts have presented the current knowledge in the following areas: How Doctor’s Think: Common Diagnostic Errors in Clinical Judgment; Team-Based Approach to Undiagnosed and Rare Diseases; Ending a Diagnostic Odyssey: Family Education Counselling and Their Response to Eventual Diagnosis; Eczema and Urticaria as Manifestations of Undiagnosed and Rare Diseases; Usual and Unusual Manifestations of Familial Hemophagocytic and Langerhans Cell Histiocytosis Syndromes; When Autistic Behavior Suggests a Disease Other than Classic Autism; Non-classic Inflammatory Bowel Disease in Young Infants; IPEX and Other Disorders; Usual and Unusual Presentation of Mitochondrial Disorders; When to Suspect Auto-inflammatory/Recurrent Fever Syndromes; Primary and Secondary Causes of Autonomic Dysfunction; Usual and Unusual Manifestations of Systemic and CNS Vasculitis; Fever of Unknown Origin; Differentiating Familial Neuropathies from Guillain-Barre Syndrome; and Munchausen by Proxy: A Factitious Undiagnosed Disease. Readers will come away with cutting-edge information to use immediately in their clinical management of patients.
1. Cover image - p. i 2. Title page - p. i 3. Table of Contents - p. i 4. Copyright - p. ii 5. CME Accreditation Page - p. iii 6. Contributors - p. v 7. Forthcoming Issues - p. xiv 8. Foreword - p. xv 9. Preface - p. xvii 10. How Doctors Think: Common Diagnostic Errors in Clinical Judgment—Lessons from an Undiagnosed and Rare Disease Program - p. 1 11. The Team-Based Approach to Undiagnosed and Rare Diseases - p. 17 12. Immunodeficiency Presenting as an Undiagnosed Disease - p. 27 13. Eczema and Urticaria as Manifestations of Undiagnosed and Rare Diseases - p. 39 14. Immune-Mediated Diseases of the Central Nervous System: A Specificity-Focused Diagnostic Paradigm - p. 57 15. Usual and Unusual Manifestations of Familial Hemophagocytic Lymphohistiocytosis and Langerhans Cell Histiocytosis - p. 91 16. When to Suspect Autoinflammatory/Recurrent Fever Syndromes - p. 111 17. When Autistic Behavior Suggests a Disease Other than Classic Autism - p. 127 18. Nonclassic Inflammatory Bowel Disease in Young Infants: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome, and Other Disorders - p. 139 19. Presentation and Diagnostic Evaluation of Mitochondrial Disease - p. 161 20. Unusual Structural Autonomic Disorders Presenting in Pediatrics: Disorders Associated with Hypoventilation and Autonomic Neuropathies - p. 173 21. Usual and Unusual Manifestations of Systemic and Central Nervous System Vasculitis - p. 185 22. Fever of Unknown Origin in Childhood - p. 205 23. Differentiating Familial Neuropathies from Guillain-Barré Syndrome - p. 231 24. The Intersection of Medical Child Abuse and Medical Complexity - p. 253 25. Ending a Diagnostic Odyssey: Family Education, Counseling, and Response to Eventual Diagnosis - p. 265 26. Index - p. 273
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