The “raw data” of the case study. Describe the initial presentation symptoms of the patient and relevant patient/family history. You should also include results of subsequent clinical examinations or tests and when presenting clinical biochemistry data the “normal range” should be provided. Negative tests or results within a normal range should be included, particularly if there aid the differential diagnosis of the disease. The use of figures is encouraged, but they must include a title and a figure legend. Specific experimental detail of how clinical tests are performed is not required.
You should include a final paragraph that diagnoses the disease or causative agent and briefly describes the reasoning for the diagnosis based on the clinical data presented.
Treatment and Outcomes
You should discuss the potential treatment options for the disease and the potential outcomes (short- and long-term) for this diagnosis. If available you would also include here the specific treatment and outcomes of the patient in the case study.
Discussion
Here you would discuss any questions the specific case history raises in terms of treatment and/or diagnosis. You should also describe the underlying biology of the disease and explain the biological basis of the patient’s symptoms and any treatment options (e.g. why a mutation in enzyme X causes symptom Y or how does drug Z works etc.). You should discuss the epidemiology of the disease and future perspectives (e.g. in epidemiology, diagnosis and/or treatment). Figures (with an appropriate title and legend) are encouraged and this section should be fully referenced.
