Undiagnosed and Rare Diseases in Children: A Comprehensive Guide

Dr. Kliegman and Dr. Bordini have compiled a comprehensive guide on undiagnosed and rare diseases in children. This book provides insights from leading experts in the field, covering various aspects such as diagnostic errors, team-based approaches, and family education. It delves into specific conditions like eczema, urticaria, familial hemophagocytic and Langerhans cell histiocytosis syndromes, and more.

How Doctors Think: Common Diagnostic Errors in Clinical Judgment

This section of the book highlights common pitfalls in diagnostic reasoning, emphasizing the importance of critical thinking and evidence-based practice. It serves as a valuable resource for healthcare professionals seeking to improve their diagnostic skills.

Team-Based Approach to Undiagnosed and Rare Diseases

A multidisciplinary approach is crucial when dealing with complex and rare conditions. This chapter outlines the benefits of collaboration among healthcare providers, ensuring that patients receive comprehensive care and support.

Ending a Diagnostic Odyssey: Family Education, Counselling, and Their Response to Eventual Diagnosis

Families often face a long and challenging journey to secure a diagnosis for their child. This section focuses on the importance of family education and counselling, helping families navigate the diagnostic process and cope with the eventual diagnosis.

Eczema and Urticaria as Manifestations of Undiagnosed and Rare Diseases

Skin conditions like eczema and urticaria can sometimes be indicative of underlying rare diseases. This chapter provides an in-depth look at these manifestations, aiding healthcare providers in identifying potential rare conditions early on.

Usual and Unusual Manifestations of Familial Hemophagocytic and Langerhans Cell Histiocytosis Syndromes

Familial hemophagocytic and Langerhans cell histiocytosis syndromes are rare but potentially life-threatening conditions. This section explores both common and unusual presentations of these syndromes, helping healthcare professionals make accurate diagnoses.

When Autistic Behavior Suggests a Disease Other than Classic Autism

Autistic behavior can sometimes be a symptom of other undiagnosed or rare diseases. This chapter guides healthcare providers in identifying when autistic behavior may indicate a different condition, promoting timely and accurate diagnoses.

Non-classic Inflammatory Bowel Disease in Young Infants

Inflammatory bowel disease can manifest differently in young infants compared to older children and adults. This section delves into the non-classic presentations of IBD in this age group, ensuring healthcare providers are equipped to diagnose and manage these conditions effectively.

IPEX and Other Disorders

IPEX (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) is a rare genetic disorder affecting immune system function. This chapter covers IPEX and other similar disorders, providing healthcare professionals with the knowledge needed to diagnose and treat these complex conditions.

Usual and Unusual Manifestations of Mitochondrial Disorders

Mitochondrial disorders can present in various ways, from common to unusual manifestations. This section offers insights into these presentations, helping healthcare providers identify and manage mitochondrial disorders more effectively.

When to Suspect Auto-inflammatory/Recurrent Fever Syndromes

Auto-inflammatory and recurrent fever syndromes are often misdiagnosed due to their varied and nonspecific symptoms. This chapter helps healthcare professionals recognize the signs and symptoms that may indicate these syndromes, ensuring timely and accurate diagnoses.

Primary and Secondary Causes of Autonomic Dysfunction

Autonomic dysfunction can result from various primary and secondary causes. This section explores these causes, aiding healthcare providers in understanding the underlying mechanisms and developing appropriate treatment plans.

Usual and Unusual Manifestations of Systemic and CNS Vasculitis

Vasculitis can affect various parts of the body, leading to diverse symptoms. This chapter covers both common and unusual manifestations of systemic and CNS vasculitis, helping healthcare professionals diagnose and manage these conditions more effectively.

Fever of Unknown Origin

Fever of unknown origin (FUO) is a challenging diagnostic puzzle for healthcare providers. This section offers guidance on approaching FUO, ensuring that underlying rare or undiagnosed conditions are not overlooked.

Differentiating Familial Neuropathies from Guillain-Barre Syndrome

Familial neuropathies and Guillain-Barre syndrome share some similarities but require distinct approaches to diagnosis and management. This chapter helps healthcare professionals differentiate between these conditions, promoting accurate diagnoses and optimal patient care.

Munchausen by Proxy: A Factitious Undiagnosed Disease

Munchausen by proxy, also known as factitious disorder imposed on another, is a rare form of child abuse. This section sheds light on this condition, helping healthcare providers recognize the signs and symptoms and take appropriate action to protect the child and address the caregiver’s behavior.