Structural autonomic disorders (producing structural damage to the autonomic nervous system or autonomic centers) are far less common than functional autonomic disorders (reflected in abnormal function of a fundamentally normal…
Mitochondrial disease (MD) occurs when alteration of mitochondrial respiratory chain complex function caused by genetic mutation produces a detectable disease state. These mutations may be found in either the nuclear…
Most neurodevelopmental disorders are defined by their clinical symptoms and many disorders share common features. Recently there has been an increase in the number of children diagnosed with autism spectrum…
Autoinflammatory disorders are disorders characterized by rash, arthritis, fever, and systemic inflammation. These disorders are caused by mutations in genes important in innate immune system sensors. This review highlights the…
Familial hemophagocytic lymphohistiocytosis (FHL) and Langerhans cell histiocytosis (LCH) are histiocytic diseases that occur most commonly in young children. Improvements in recognition and treatment have been substantial for both diseases…
Immune-mediated diseases of the central nervous system show wide variability both symptomatically and with respect to underlying pathophysiology. Recognizing aberrant immunologic activity as the cause of neurologic dysfunction requires establishing…
Patients with undiagnosed or rare diseases often remain without a diagnosis for many years. Many are misdiagnosed or treated symptomatically without having an identified underlying disease process. Health care providers…
Although primary immunodeficiencies typically present with recurrent, chronic, or severe infections, autoimmune manifestations frequently accompany these disorders and may be the initial clinical manifestations. The presence of 2 or more…
The scientific process of analysis and deduction is frequently, often subconsciously, used by physicians to develop a differential diagnosis based on patients’ symptoms. Common disorders are most frequently diagnosed in…
Robert M. Kliegman, MD, Editor Brett J. Bordini, MD, Editor The many and rapid advances in new disease discovery and advanced diagnostic testing in pediatric medicine have made it difficult…
