The Importance of Case Reports in Advancing Scientific Knowledge of Rare Diseases

Case reports are defined as the scientific documentation of a single clinical observation and have a time-honored and rich tradition in medicine and scientific publication. Case reports represent a relevant, timely, and important study design in advancing medical scientific knowledge especially of rare diseases. While there are clear limitations to the methodology of case studies in determination of treatment and establishment of new tests, the observation of a single patient can add to our understanding of etiology, pathogenesis, natural history, and treatment of particularly rare diseases, and to the training of potential junior investigators. In recent years this class of scientific publication has come under scrutiny and disfavor among some in the medical scientific publication community and case studies are frequently relegated to the lowest rung of the hierarchy of study design. In this chapter the author will review and summarize the debate around the scientific publication of case reports in the context of the study of rare diseases and will present a taxonomy that ideally will encourage further dialogue on the topic. Future research on the importance of case reports in advancing knowledge of rare diseases is recommended.