Undiagnosed and Rare Diseases in Children, An Issue of Pediatric Clinics of North America

Written by Dr. Robert M. Kliegman and Dr. Bordini, this primer on Undiagnosed and Rare Diseases in Children brings together leading experts to address one of the most challenging areas in pediatrics—recognizing, evaluating, and managing complex and rare conditions. The book focuses on improving clinical reasoning, reducing diagnostic error, and shortening the often prolonged “diagnostic odyssey” faced by children and their families. It provides practical, up-to-date insights that clinicians can apply directly to patient care.

Key Features:

• Explores how doctors think, with emphasis on common diagnostic errors and cognitive pitfalls.
• Promotes a team-based, multidisciplinary approach to undiagnosed and rare pediatric diseases.
• Addresses family education, counseling, and psychosocial responses surrounding delayed or eventual diagnoses.
• Covers dermatologic, neurologic, gastrointestinal, immunologic, metabolic, and genetic presentations of rare diseases.
• Includes detailed discussions on conditions such as HLH, Langerhans cell histiocytosis, mitochondrial disorders, IPEX, autoinflammatory syndromes, vasculitis, and autonomic dysfunction.
• Highlights red flags when common presentations (e.g., autism, eczema, fever) suggest rare or atypical disease.
• Discusses complex diagnostic challenges such as fever of unknown origin, familial neuropathies, and Munchausen by proxy.
• Provides clinically actionable, cutting-edge information for immediate use in pediatric practice.