Are you a diagnostic genius?
Test yourself by working out the diagnosis for each obscure presentation in the clinic of curiosities
1 ‘You’ll think I’m mad, but I keep getting this loud bang in my head that wakes me at night.’
This 50-year-old woman has noticed these episodes for months, intermittently. She describes the sensation of a gun going off in her head, typically as she drifts off to sleep or is waking up. There is no pain and the symptoms subside within seconds, but she is left with an intense sensation of fear for a while afterwards.
2 ‘I’ve come for some antibiotic ointment for my eye – but why do I keep getting this conjunctivitis?’
You see from the records that this very obese man with sleep apnoea has attended repeatedly over the past year or two with recurrent episodes of red, sore, discharging eyes. The symptoms do seem to improve each time with chloramphenicol ointment, and clinical examination on this occasion is again compatible with conjunctivitis.
3 ‘I can’t pronounce the diagnosis on my discharge letter, what on earth does it mean?’
You read the letter brought by the patient, a 65-year-old lady who was admitted to hospital a week ago with a presentation of ‘ACS-type chest pain following a heated row with her husband’. The letter says ECG changes suggested an acute MI, yet a coronary angiogram showed no vessel occlusion. She was discharged on no medication.
4 ‘I won’t shake hands – I don’t know if these spots are infectious.’
This patient’s notes reveal he has attended twice in the past month with lesions on his hand. Flucloxacillin and an antifungal cream have had no effect. On examination he has a cluster of papules, a couple of which have ulcerated, over the knuckles of his right hand. He adds: ‘It’s always a bit of a worry wondering what you might pick up running a pet shop.’
5 ‘It sounds strange, but objects wobble when I hear a loud noise. And I can hear my own eyeballs move. But it’s the vertigo that’s the main problem.’
This 40-year-old woman had been suffering these symptoms for abouta year. She also described tinnitus and hyperacusis. A brief physical examination is normal and she does not have any features of anxiety or depression, other than understandable and proportionate distress at her physical symptoms.
1 Exploding head syndrome
Despite the name, this is entirely benign. Patients describe a sudden bang or explosion within the head, without pain, sometimes with a flash of light, usually as they are waking up. Although it terrifies them (and doctors who do not recognise it), it needs reassurance only. It can recur, and clomipramine may help. The report of a first episode may cause concern about a possible subarachnoid haemorrhage – the key with exploding head syndrome is the complete absence – on careful questioning – of pain.
2 Floppy eyelid syndrome
Floppy eyelid syndrome usually affects middle aged overweight males and presents with a unilateral or bilateral chronic papillary conjunctivitis. The eyelids are lax and floppy with a large fornix. It can cause ocular irritation and discharge. The syndrome is associated with sleep apnoea. Nocturnal eyeshields or eyelid taping, or ocular lubricants, may help. Surgical correction is possible if the symptoms are severe.
3 Takotsubo cardiomyopathy
Takostsubo cardiomyopathy, or broken heart syndrome, is characterised by severe, typical cardiac-sounding chest pain indicative of acute myocardial infarction often accompanied by ECG changes - yet no vessel occlusion is seen on coronary angiogram. The condition is often precipitated by acute emotional stress. The mechanism is unclear: acute severe catecholamine surge, microvascular dysfunction and coronary spasm are possible explanations. Patients need early and prompt admission to support the left ventricle - yet curiously, in almost all instances, there is complete recovery.
4 Fish tank granuloma
Fish tank granuloma is an uncommon condition caused by the non-tuberculous mycobacterium Mycobacterium marinum, which is endemic in fish. Transmission to humans can occur through breaks in the skin when exposed to contaminated water or from direct contact with fish. Patients present with a single blue-red nodule at the site of exposure that can ulcerate or form an abscess – typically on the dominant hand. Multiple lesions may spread proximally along the line of lymphatics. Treatment is with a prolonged course of an antibiotic (e.g. clarithromycin or minocycline).
5 Superior semicircular canal dehiscence
Patients present around the age of 45 with autophony in the affected ear (they can hear their own voice more loudly and will sometimes describe the phenomenon of hearing their own eyeballs move), tinnitus, which may be associated with loud noises and hyperacusis (sensitivity to sound). Vertigo may feature, too. This has a gradual onset and is due to a thinning or absence of bone over the superior semicircular canal. If the symptoms are severe, surgical repair may be warranted.
How did you rate on the diagnostic genius scale? Score one point for each correct diagnosis:
|Score||You are a….|
|5||Dr House – you’ve solved every pathological enigma|
|4||Dr Watson – Sherlock-level clinical sleuthing|
|3||Dr Feelgood – you’re a diagnostic star. In Canvey|
|2||Dr Lecter – you’ve no appetite for clinical oddities|
|1||Dr Dolittle – does a 20% hit rate even entitle you to a coffee break?|
|0||Dr Frank-N-Furter – a Rocky Horror Show of a clinic|
These cases are taken from Instant Wisdom for GPs, available from 20 October at Amazon.co.uk, priced £24.99