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.