Undiagnosed and rare diseases in children

Foreword: Undiagnosed and rare childhood diseases / Bonita F. Stanton

Preface: Undiagnosed and rare diseases / Robert M. Kliegman, Brett J. Bordini

How doctors think: common diagnostic errors in clinical judgment

lessons learned from an undiagnosed and rare disease program / Robert M. Kliegman, Brett J. Bordini, Donald Basel, James J. Nocton

The team-based approach to undiagnosed and rare diseases / Robert M. Kliegman, Barbara E. Ruggeri, Molly Marquardt Smith

Immunodeficiency presenting as an undiagnosed disease / John M. Routes, James W. Verbsky

Eczema and urticaria as manifestations of undiagnosed and rare diseases / Molly J. Youssef, Yvonne E. Chiu

Immune-mediated diseases of the central nervous system: a specificity-focused diagnostic paradigm / Dominic O. Co, Brett J. Bordini, Arthur B. Meyers, Christopher Inglese

Usual and unusual manifestations of familial hemophagocytic lymphohistiocytosis and Langerhans cell histiocytosis / Craig Erker, Paul Harker-Murray, Julie-An Talano

When to suspect autoinflammatory/recurrent fever syndromes / James W. Verbsky

When autistic behavior suggests a disease other than classic autism / Mark D. Simms

Nonclassic inflammatory bowel disease in young infants: immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, and other disorders / Shanmuganathan Chandrakasan, Suresh Venkateswaran, Subra Kugathasan

Presentation and diagnostic evaluation of mitochondrial disease / David P. Dimmock, Michael W. Lawlor

Unusual structural autonomic disorders presenting in pediatrics: disorders associated with hypoventilation and autonomic neuropathies / Gisela Chelimsky, Thomas Chelimsky

Usual and unusual manifestations of systemic and central nervous system vasculitis / James J. Nocton

Fever of unknown origin in childhood / Michael J. Chusid

Differentiating familial neuropathies from Guillain-Barré syndrome / Brett J. Bordini, Priya Monrad

The intersection of medical child abuse and medical complexity / Hillary W. Petska, John B. Gordon, Debra Jablonski, Lynn K. Sheets

Ending a diagnostic odyssey: family education, counseling, and response to eventual diagnosis / Donald Basel, Julie McCarrier.