Current Clinical Updates on Undiagnosed and Rare Diseases in Neonates

By Robert M. Kliegman MD, Brett J. Bordini MD, in collaboration with Consulting Editor, Dr. Lucky Jain, this comprehensive guide provides a current clinical update on the treatment and management of undiagnosed and rare diseases in neonates. Expert authors have contributed clinical review articles on the following topics:

Neonatal Liver Failure

Understanding the causes, symptoms, and treatment options for neonatal liver failure is crucial for healthcare providers. This section delves into the diagnostic approaches and therapeutic strategies for this condition.

Neonatal Autoinflammatory Disorders

Autoinflammatory disorders in neonates can be challenging to diagnose and manage. This chapter covers the clinical presentation, genetic basis, and treatment modalities for these conditions.

Rare or Unusual Dermatologic Disorders In Neonates

This section focuses on the rare and unusual dermatologic disorders that can affect neonates, including their clinical features, differential diagnoses, and management strategies.

Neonatal Immune Deficiency

Neonatal immune deficiency can lead to severe infections and mortality. This chapter discusses the various types of immune deficiencies, their diagnosis, and treatment options.

Congenital Diarrhea Syndromes

Congenital diarrhea syndromes can cause significant morbidity and mortality in neonates. This section explores the different types of congenital diarrhea syndromes, their pathogenesis, and management approaches.

Nonimmune Hydrops

Nonimmune hydrops is a condition characterized by the accumulation of fluid in two or more fetal compartments. This chapter reviews the etiology, diagnosis, and management of nonimmune hydrops.

DNA Depletion Syndromes

DNA depletion syndromes are a group of disorders characterized by impaired mitochondrial DNA replication. This section discusses the clinical features, genetic basis, and treatment options for DNA depletion syndromes.

Genomic Approach to Dysmorphology Syndromes

The genomic approach has revolutionized the diagnosis and management of dysmorphology syndromes. This chapter covers the role of genomics in understanding the pathogenesis and treatment of these syndromes.

Nonimmune Anemias

Nonimmune anemias can occur due to various factors, including genetic defects and nutritional deficiencies. This section provides insights into the causes, diagnosis, and treatment of nonimmune anemias in neonates.

Severe Metabolic Crisis

Severe metabolic crisis, including metabolic acidosis, unresponsive hypoglycemia, and hyperammonemia, can be life-threatening in neonates. This chapter outlines the diagnostic and therapeutic strategies for these conditions.

Heterotaxia Syndromes

Heterotaxia syndromes are characterized by abnormal arrangement of body organs. This section discusses the clinical presentation, genetic basis, and management approaches for heterotaxia syndromes.

Neonatal Appendicitis

Neonatal appendicitis is a rare condition that requires prompt diagnosis and treatment. This chapter covers the clinical features, imaging studies, and surgical management of neonatal appendicitis.

Avoiding Diagnostic Errors in Neonatology

Diagnostic errors can have significant consequences in neonatology. This section provides practical tips for avoiding common diagnostic pitfalls in neonatal care.

Differentiating Congenital Myopathy from Congenital Muscular Dystrophy

Congenital myopathy and congenital muscular dystrophy are often confused due to overlapping clinical features. This chapter helps healthcare providers differentiate between these two conditions.