General medicine case reports
A crushing oversight
In the late 1990s, Mr M, a stockbroker in his fifties, was referred by his GP to see Dr J, specialist physician and cardiologist. Mr M had been feeling generally 'not right'. He had suffered a transient left-sided loss of limb power a year earlier, diagnosed as a stroke.
He was overweight, smoked and had high blood pressure, which his GP had found difficult to control, hence the referral for advice. Mr M also complained of generalised weakness, myalgia, poor stamina and recent erectile dysfunction.
Dr J noted Mr M's protuberant abdomen and florid complexion. He ordered blood tests, ECG, 24-hour BP monitoring, a carotid doppler ultrasound and a CXR. Mr M was advised to stop smoking.
Dr J's notes contain the thought – 'cortisol'. When Mr M came back for his results a couple of weeks later, the carotid doppler scan showed only minor atheroma and daytime BP on treatment averaged 135/89 mmHg. Mr M felt a little better and less weak, with some recovery of his sexual function.
Six months later, Mr M came back for review and told Dr J that he was depressed, his back was aching, and his legs felt weak again. He informed Dr J that his GP had ordered some further tests. Dr J wrote to the GP and asked to be copied into any results, commenting that 'obviously he has got creatine kinase and perhaps cortisol on the way'.
He noted Mr M's propensity to bruising and documented an absence of limb girdle weakness, arranging an exercise ECG. This subsequently proved to be unremarkable and a further review was arranged for six months hence.
In the meantime, Mr M's GP wrote to Dr J suggesting Cushing's syndrome as a unifying diagnosis, asking whether or not a 24-hour urinary cortisol was advisable. Dr J replied that this diagnosis could explain the weakness and abdominal distension, adding, 'I felt that perhaps his alcohol consumption was more likely to be responsible at the time I saw him'.
The urinary 24-hour cortisol and dexamethasone suppression tests were consistent with a diagnosis of Cushing's syndrome due to an adrenal adenoma, which was subsequently removed.
Unfortunately, Mr M suffered long-term sequelae due to his prolonged cortisol excess and was left with multiple vertebral crush fractures, irreversible skin changes, mood disturbance, muscle weakness and erectile dysfunction. Mr M sued Dr J, alleging that he had been negligent in failing to make the diagnosis initially, and in the length of time it had taken to make it.
Our experts in general medicine and endocrinology noted several opportunities for Dr J to make the diagnosis, as part of the screening tests one would conduct to investigate the cause of refractory hypertension, and because there was evidence of osteoporosis in the form of rib fractures on Mr M's initial x-rays.
Because Dr J had raised the possibility of the diagnosis after his early consultations, it was thought that there were several clear clinical pointers to the diagnosis. Several opinions supported a direct causal link between the delay in Mr M's diagnosis and his subsequent problems and symptoms.
We settled the case for a sum equivalent to £210,000 (US$393,140).
For a tutorial on the various causes of Cushing's syndrome and clinical and biochemical diagnostic advice, see emedicine.medscape.com. When investigation results fail to support your initial assumptions, be open to alternative explanations.