Miss M W, aged 8, presented with epigastric pains. There were no other symptoms.
She had a low-grade fever, the right iliac fossa was mildly tender and bowel sounds were slightly hyperactive. However, she appeared quite well and had no significant past history.
A tentative diagnosis of early appendicitis or viral mesenteric adenitis was made. There was no reason to consider functional disease high among the diagnostic probabilities. She was discharged to her mother’s care for observation at home and general advice on follow-up was given.
M’s pain had been smouldering but there were no new symptoms. She appeared to be well generally and was quite cheerful. The low-grade fever continued: she now had mild tenderness in the right upper quadrant but the liver was impalpable and there was no jaundice. No urine specimen was available for testing; no other physical abnormalities were detected despite an exhaustive examination.
Hepatitis was promoted now to the head of the list of diagnostic probabilities despite a negative history of contact. The mother was asked to check the colour of urine and faeces and was given general advice. No pharmacological action was taken nor had proprietary analgesics been given.
The mother later phoned to say that M’s urine was dark. She was asked to bring in a urine specimen.
M’s urine was indeed dark and testing was positive—not for bilirubin but for blood; there was no proteinuria. With a working diagnosis of glomerulonephritis, a most searching history was unhelpful and a repeated physical examination still revealed only mild tenderness in the right upper quadrant. She was asked to return with an early morning specimen.
M returned with a urine specimen that was still positive (+ +) for blood but otherwise was normal. An additional symptom now had appeared: her bowel motions that morning were black and tarry. An occult blood test was positive.
The working diagnosis now centred on haemorrhagic diatheses such as Henoch-Schölein or idiopathic thrombocytopenic purpura. However, there was no splenomegaly, no lymphadenopathy, no clinical jaundice, no masses, no rash and no other clinical evidence of haemorrhagic disorder such as bruising or petechiae; heart sounds were dual.
An urgent full blood examination, ESR and clotting profile gave a diagnosis. The clotting parameters were marginally impaired, ESR was 10, and the red cell parameters were normal and the white cell count was within normal limits; but a differential count revealed 50 per cent atypical lymphocytes, and serology confirmed a diagnosis of glandular fever. Urine microscopy had confirmed the dipstick finding of haematuria. Even with a diagnosis firmly established no clinical evidence of Epstein-Barr mononucleosis could be found.
On the assumption that her haematuria and melaena reflected impaired hepatic function, M was given 10 mg of vitamin K by intramuscular injection.
Urine was still weakly positive (trace) for non-haemolysed blood; bowel motions were still dark. Submandibular node enlargement was detected for the first time. The liver and spleen were impalpable and the nodes elsewhere were normal. There was no rash.
The submandibular nodes were now unmistakeably enlarged. There was no fever, pharyngitis or rash. Lymph nodes elsewhere were normal. Both the liver and the spleen were enlarged but neither was tender. Urinalysis was normal and the mother reported that bowel motions were now a normal colour and consistency.
M had remained clinically well and cheerful throughout the course of her illness and currently is under a customary conservative management regime. Subsequently she developed the typical purplish rash of infectious (Epstein-Barr) mononucleosis on the lower abdomen.
DISCUSSION AND LESSONS LEARNED
This case is presented not only as a diagnostic conundrum but also as an illustration of a systemic illness presenting with manifestations in many organs other than those that first come to mind when the illness is named.
Primarily, MW’s case shows that when a symptom complex suggests a specific diagnosis the practitioner must take care that he or she is not blinded by his or her own (or another’s) diagnostic label. He or she should be sensitive to changes in the clinical story—which rarely will be as apparent as those described above—and should be prepared to revise the diagnosis in the light of those changes.