Undiagnosed and Rare Diseases

The many and rapid advances in new disease discovery and advanced diagnostic testing in pediatric medicine have made it difficult for all practitioners to be kept current. In 1968, Gordon Avery described a highly lethal undifferentiated disorder, “intractable diarrhea of infancy”; in 2016, there are over 50 identifiable causes of an early onset and also potentially lethal inflammatory bowel disease-like syndrome. Almost all practitioners have cared for children with chronic, progressive diseases that do not fit a common or definable diagnosis. Although symptoms are treated, the patients remain undiagnosed and often uncured. Unfortunately, symptomatic therapy for the wrong disease can lead to drug-related toxicities and the relentless progression of the undiagnosed disorder.

This issue of Pediatric Clinics of North America highlights the experience of a predominantly single center’s program to help identify the disease cause of children whose parents have been on a diagnostic odyssey to discover the cause of their child’s undiagnosed disease. Written from a clinical perspective, the authors have helped identify common cognitive diagnostic errors as well as suggestive diagnostic clues to help uncover the underlying disease process.

Because the Institute of Medicine has now highlighted the impact of diagnostic errors, we hope this issue will bring an informed awareness to clinicians by assisting them in avoiding diagnostic errors. Furthermore, and of greater significance to our patients, we hope this issue also helps clinicians recognize unusual manifestations of common disorders as well as known features of rare diseases. These two categories represent the majority of undiagnosed diseases in children.

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