Abstract
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.
Similar content being viewed by others
References
Aleck KA, Bartley DL (1997) Multiple malformation syndrome following fluconazole use in pregnancy: report of an additional patient. Am J Med Genet 72:253–256
Al-Rahawan MM, Chute DJ, Sol-Church K et al (2007) Hepatoblastoma and cardiac transplantation on a patient with cardio-facial-cutaneous syndrome. Am J Med Genet Part A 143A:148–1488
Balci S, Engiz O, Aktas D et al (2006) Ring chromosome 4 and Wolf–Hirschhorn syndrome (WHS) in a child with multiple anomalies. Am J Med Genet Part A 140A:628–632
Biesecker L (2004) Endangered species. Am J Med Genet Part A 128A:429–430
Bocian M, Walker AP (1987) Lip pits and deletion 1q32→41. Am J Med Genet 26: 437–443
Böhm D, Hoffmann K, Laccone F et al (2006) Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion. Am J Med Genet Part A 140A:378–382
Boyd LJ, Livingston JS, Brown MG et al (2005) Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm. Am J Med Genet Part A 138A:355–360
Carey JC (2006) Editorial comment: a species not extinct: publication of case reports and scientific knowledge. Am J Med Genet Part A 140A:801–803
Carey JC (2006) The significance of case reports in the advancement of medical scientific knowledge. Am J Med Genet Part A 140A:2131–2134
Carey JC, Martinez L, Balken E et al (2009) Determination of human teratogenicity by the astute clinician method: review of illustrative agents and a proposal of guidelines. Birth Defects Res Part A 85:63–68
Dauphinee L, Peipert JF, Phipps M et al (2005) Research methodology and analytic techniques used in the Journal Obstetrics & Gynecology. Obstet Gynecol 106:808–812
Dong P, Loh M, Mondry A (2005) The “impact factor” revisited. Biomed Digit Libr 2:7
Feldman BJ, Rosenthal SM, Vargas GA et al (2005) Nephrogenic syndrome of inappropriate antidiuresis. N Engl J Med 352:1884–1890
Greenhalgh T, Hurwitz B (1999) Narrative based medicine: why study narrative? BMJ 318:48–50
Hoffman WH, Jueppner HA, DeYoung BR et al (2005) Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome. Am J Med Genet Part A 134A:233–236
Hunter KM (1991) Doctor’s Stories: narrative structure of medical knowledge. Princeton University Press, Princeton, NJ
Loke YK, Price P, Derry S et al (2006) Case reports of suspected adverse drug reactions-systematic literature survey of follow-up. BMJ 332:335–338
McNeill A, Parkin CK, Rubab U (2007) Using a case report to teach junior doctors about mediacla publishing. Med Teach 29:511
Patsopoulos NA, Apostolos AA, Ioannidis JPA (2005) Relative citation impact of various study designs in the health sciences. JAMA 293:2362–2366
Perez-Aytes A, Ledo A, Boso V et al (2008) In utero exposure to mycophenolate mofetil: a characteristic phenotype? Am J Med Genet Part A 146A:1–7
Rodríguez L, Zollino M, Climent S et al (2005) The new Wolf–Hirschhorn syndrome critical region (WHSCR-2): a description of a second case. Am J Med Genet Part A 136A:175–178
Scott J (2009) In defense of case reports. Obstet Gynecol 114:413–414
South ST, Swensen JJ, Maxwell T et al (2006) A new genomic mechanism leading to cri du chat syndrome. Am J Med Genet Part A 140A:2714–2720
Takagishi J, Rauen KA, Drumheller T et al (2006) Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect. Am J Med Genet Part A 140A:1587–1593
Van Bever Y, Rooms L, Laridon A et al (2005) Clinical report of a pure subtelomeric 1q deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype. Am J Med Genet Part A 135A:91–95
Vandenbroucke JP (1999) Case reports in an evidence-based world. J Roy Soc Med 92:159–163
Vandenbroucke JP (2001) In defense of case reports and case series. Ann Intern Med 134:330–334
Acknowledgements
The author expresses appreciation to Drs Leslie Biesecker and John Opitz for the many fruitful discussions of this topic and to Dr Edward Clark for his gracious support of the time in the summer of 2007 to study this theme in detail. The author also appreciates the administrative expertise provided by Feliz Martinez and Meg Weist, both of the American Journal of Medical Genetics editorial office, in preparation for the research for this and related work on case reports. Lastly the author is grateful to Kevin Jeannette and Colette Bean of Wiley-Blackwell, who created Fig 5.1 .
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2010 Springer Netherlands
About this chapter
Cite this chapter
Carey, J.C. (2010). The Importance of Case Reports in Advancing Scientific Knowledge of Rare Diseases. In: Posada de la Paz, M., Groft, S. (eds) Rare Diseases Epidemiology. Advances in Experimental Medicine and Biology, vol 686. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9485-8_5
Download citation
DOI: https://doi.org/10.1007/978-90-481-9485-8_5
Published:
Publisher Name: Springer, Dordrecht
Print ISBN: 978-90-481-9484-1
Online ISBN: 978-90-481-9485-8
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)