DISCUSSION
While undoubtedly well-intentioned, the article by Sato Boku, Sento, Hasegawa, Tsutsumi, Kamimura, So, Kako, and Sobue illustrates the scholarly outcome of an insufficient literature search.[1-2] Had the authors carried out a more complete search and review, all of the subsequent errors could have been avoided, a failing common to the other three case reports we have reviewed in the last year purportedly describing patients with FBS (Fig 2). Below we discuss specific steps we have identified that, had they been followed, would have provided multiple levels of safeguards to ensure the most accurate information was presented in each of these four case reports (Fig 3).
When conducting a literature search while considering whether to write a case report of a patient with a rare condition, it is particularly important to try to find and carefully read as many of the following as possible: most recent narrative review, most recent meta-analysis, any clinical practice recommendations, studies showing a molecular or genetic cause, reports of an accepted diagnostic criteria, and descriptions of treatment. Reviewing only case reports, especially older articles, led the authors of the four articles we reviewed to incorrect conclusions.[1-2,10-15] While high-quality randomized controlled trials and large observational studies are unlikely to be found for many rare conditions, carefully reading a variety of published article types should help potential authors.
Just as journals have required manuscript compliance with CONSORT, STROBE, and PRISMA guidelines when reporting randomized trials, observational studies, and systematic reviews, journals that accept case reports have begun requiring case report manuscript adherence to the CARE guideline, which provides a logical framework for reporting case reports.[27-30] This should be considered a minimum standard and is not specific for rare conditions.
The most important safeguard, however, is to consider that writing case reports about rare conditions in patients is fundamentally different from almost any other circumstance. If describing a patient with diabetes mellitus, it would almost always be considered redundant to describe why the patient was diagnosed with diabetes mellitus. It’s a common condition, and the audience of any medical journal would neither need nor wish to see this information to be satisfied the patient was correctly diagnosed. For a rare condition, where neither the majority of authors nor audience would be expected to be experts, objectively establishing the diagnosis in the context of the accepted criteria for diagnosis is paramount. The cogency of the entire case report depends on having established an accurate diagnosis.
Authors should have personally seen the patient and be familiar with their history, presentation, and care to improve accuracy and precision in reporting. Experts in the rare condition should be consulted and provided as much medical data as possible. They also should review the manuscript to evaluate the accuracy of the case presentation and discussion. It is not thought to be necessary that the consulting expert sees the patient.
Finally, any resulting manuscript should clearly present how the patient’s presentation matched the accepted diagnostic criteria and generally follow logically within a known disease mechanism or very cautiously propose a new one. As with all manuscripts, authors should strive to interpret the relevance of their case and how their case report may point toward future needed research. In the context of rare conditions, this may not be as straightforward and require extra consideration.