Throughout medical history the case report has been indispensable in advancing knowledge. However, progress in experimental methods, developments in clinical trials and resolute focus on evidence-based medicine has relegated case reports, as one observer has put it, ‘to the lowest form of intellectual life’.1 The arguments have been well rehearsed. Case reports certainly have limitations. Their findings are not generalisable, yet there is a tendency for their authors and readers to over-interpret them. They are subjective and open to information bias.2 There is an emphasis on the rare and the ‘me too’, like ‘we report only the fourth such case in the literature’, without adding any new insight or hypothesis.3 They may be poorly written and referenced, left to the most junior member of the team. Many journals avoid them because of the negative influence on their impact factor or, as amusingly described, ‘banish them like some primitive peoples, to the tribal reservations of the correspondence columns and the electronic pages’.4
Yet their value out-weighs their limitations. They can flag-up new conditions or potential new aetiologies or treatments, add to knowledge and experience of rarities, generate hypotheses, opening the gate to more refined and complete research, aid learning and change practice.1,2,5 They are an important vehicle for adverse anecdote,6,7 despite ‘anecdotal’ being a pejorative in scientific medicine. The reporting of errors or near misses should be encouraged. They are often a stimulating and entertaining read, and their detail immediately educative for the busy doctor.
The past year has seen a particularly good run of case reports in the Journal of the Royal College of Physicians of Edinburgh (JRCPE). Gratifyingly, this has coincided with the introduction by the Royal College of Physicians of Edinburgh’s (RCPE) Senior Fellows Club of an annual Case of the Quarter Prize (CQP) for the best case report or case series whose first-named author is a trainee. The Club has sponsored the College Journal Prize (CJP) since 2011 for the best clinical paper. Now there will be two trainee prizes: the CJP, for the best clinical investigation or audit, and the CQP.
Eleven case reports from the quarterly JRCPE issues, December 2018 to September 2019, were eligible for consideration by a panel of six: two JRCPE editors, two senior fellows, and the chairman and recent past chairman, now consultant, of the RCPE’s Trainees and Members Committee. Each marks according to a scheme and the top score agreed at a meeting.
The following highlights, comments on and develops some of the year’s learning points.
Renal failure, parathyroid hormone, myelofibrosis and cherubs
Yeo et al.’s fascinating paper, Renal failure and progressive pancytopenia,8 reports the fact, unknown to the panel (including two endocrinologists), that hyperparathyroidism (HPT), primary and secondary, can cause myelofibrosis. It also introduced the panel to cherubism.
The patient was a 24-year-old female with chronic renal failure due to reflux nephropathy, on haemodialysis for 4 years following a failed live kidney donor transplant. Despite erythropoietin she remained anaemic, haemoglobin 78 g/l, white blood cells 0.4 × 109/l and platelets 131 × 109/l. Her blood film was leucoerythroblastic. Bone marrow aspirate was dry and trephine showed reticulin grade 4/4 fibrosis. While hypocalcaemia was corrected, her parathyroid hormone (PTH) rose to 550 pmol/l. Her facial appearance became cherubic (Figure 1) and CT confirmed fibrocystic lesions – presumed ‘brown tumours’ – in her maxilla and mandible. After total parathyroidectomy, her blood count and film normalised within 3–6 months. She awaits a second transplant.
Figure 1 Cherubism appearance from bony swellings in the maxilla and mandible in a case of myelofibrosis due to secondary hyperparathyroidism from renal failure
