Eczema and urticaria are common disorders encountered in pediatric patients, but they may occasionally be the presenting complaint in a child with an underlying rare disease. Immunodeficiency syndromes should be…
Genomic sequencing is the diagnostic test of choice for families with undiagnosed or rare diseases seeking an explanation for their child’s complex medical concerns. The desire to find answers can…
Differentiating Guillain-Barré syndrome (GBS) from inherited neuropathies and other acquired peripheral neuropathies requires understanding the atypical presentations of GBS and its variant forms, as well as historical and physical features…
Children with medical complexity and victims of medical child abuse may have similar clinical presentations. Atypical or unexplained signs and symptoms due to rare diseases may lead providers to suspect…
Childhood fever of unknown origin (FUO) is most often related to an underlying infection but can also be associated with a variety of neoplastic, rheumatologic, and inflammatory conditions. Repeated, focused…
The idiopathic vasculitides are a group of inflammatory and immune-mediated conditions associated with inflammation of blood vessels. They affect multiple organ and body systems, and vary in their clinical manifestations,…
This article discusses non-classical forms of inflammatory bowel disease (IBD) mainly occurs in infants and very young children. Defects in every aspect of the immune system, such as neutrophils, T-cell…
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…
