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ANSWER 62

The mental test score is very low at 4 out of 10, indicating severe impairment of cognitive function. A longer Mini-mental State Examination involves more questions scoring out of 30. The combination of a short history of rapidly advancing dementia often with focal neurological symptoms or signs would fit a diagnosis of Creutzfeld–Jakob disease (CJD). There may be focal or generalized fits and myoclonus is common. Speech may become severely affected and the patient may become mute. CJD may be familial or transmitted by prions by means of neurosurgical operations, corneal transplants or injections of growth hormone isolated from human pituitary glands. New-variant CJD (nvCJD) is thought to be the human equivalent of bovine spongiform encephalopathy (‘mad cow disease’) due to ingestion of prions in infected cattle products. nvCJD often presents with psychiatric features and has characteristic neuropathological features.

Dementia is a progressive decline in mental ability affecting intellect, behaviour and personality. The earliest symptoms of dementia are an impairment of higher intellectual functions manifested by an inability to grasp a complex situation. Memory becomes impaired for recent events and there is usually increased emotional lability. In the later stages of dementia the patient becomes careless of appearance and eventually incontinent.

!Causes of dementia

•Alzheimer’s disease

•Multi-infarct dementia

•As part of progressive neurological diseases, e.g. multiple sclerosis

•Normal pressure hydrocephalus: dementia, ataxia, urinary incontinence

•Neurosyphilis: general paralysis of the insane

•Vitamin B12 deficiency

•Intracranial tumours; subdural haematomas

•Hypothyroidism

•AIDS dementia

The investigations in this patient should include a full blood count, erythrocyte sedimentation rate, serum urea and electrolytes, serum calcium, thyroid function tests, liver function tests, venereal disease research laboratory (VDRL) for syphilis, vitamin B12 and folic acid, HIV serology and computed tomography (CT) of the head. In CJD, the CT scan is usually normal, reflecting the rapid course of the disease with little time for atrophy.

There is no treatment for this condition. The neurologist must discuss with the family the diagnosis and prognosis. Counselling and support should be provided.

KEY POINTS

•Dementia at an early age requires rapid investigation to exclude a treatable cause.

•Most patients with presenile dementia have Alzheimer’s disease.

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CASE 63: DIARRHOEA

History

A 35-year-old woman has a year-long history of intermittent diarrhoea which has never been bad enough for her to seek medical help in the past. However, she has become much worse over 1 week with episodes of bloody diarrhoea 10 times a day. She has had some crampy lower abdominal pain which lasts for 1–2 h and is partially relieved by defaecation. Over the last 2–3 days she has become weak with the persistent diarrhoea and her abdomen has become more painful and bloated over the last 24 h.

She has no relevant previous medical history. Up to 1 year ago, her bowels were regular. There is no disturbance of micturition or menstruation. In her family history, she thinks one of her maternal aunts may have had bowel problems. She has two children aged 3 and 8 years. They are both well. She travelled to Spain on holiday 6 months ago but has not travelled elsewhere.

She smokes 10 cigarettes a day and drinks rarely. She took 2 days of amoxicillin after the diarrhoea began with no improvement or worsening of her bowels.

Examination

Her blood pressure is 108/66 mmHg. Her pulse rate is 110/min, respiratory rate 18/min. Her abdomen is rather distended and tender generally, particularly in the left iliac fossa. Faint bowel sounds are audible. The abdominal X-ray shows a dilated colon with no faeces.

INVESTIGATIONS

Questions

•What is your interpretation of these results?

•What is the likely diagnosis and what should be the management?

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ANSWER 63

Bloody diarrhoea 10 times a day suggests a serious active colitis. In the absence of any recent foreign travel it is most likely that this is an acute episode of ulcerative colitis on top of chronic involvement. The dilated colon suggests a diagnosis of toxic megacolon which can rupture with potentially fatal consequences. Investigations such as sigmoidoscopy and colonoscopy may be dangerous in this acute situation, and should be deferred until there has been reasonable improvement. The blood results show a microcytic anaemia suggesting chronic blood loss, low potassium from diarrhoea (explaining in part her weakness) and raised urea, but a normal creatinine, from loss of water and electrolytes.

If the history was just the acute symptoms, then infective causes of diarrhoea would be higher in the differential diagnosis. Nevertheless, stool should be examined for ova, parasites and culture. Inflammatory bowel disorders have a familial incidence but the patient’s aunt has an unknown condition and the relationship is not close enough to be helpful in diagnosis. Smoking is associated with Crohn’s disease but ulcerative colitis is more common in non-smokers.

She should be treated immediately with corticosteroids and intravenous fluid replacement, including potassium. If the colon is increasing in size or is initially larger than 5.5 cm then a laparotomy should be considered to remove the colon to prevent perforation. If not, the steroids should be continued until the symptoms resolve, and diagnostic procedures such as colonoscopy and biopsy can be carried out safely. Sulphasalazine or mesalazine are used in the chronic maintenance treatment of ulcerative colitis after resolution of the acute attack.

In this case, the colon steadily enlarged despite fluid replacement and other appropriate treatment. She required surgery with a total colectomy and ileo-rectal anastomosis. The histology confirmed ulcerative colitis. The ileorectal anastomosis will be reviewed regularly; there is an increased risk of rectal carcinoma.

KEY POINTS

•Bloody diarrhoea implies serious colonic pathology.

•It is important to monitor colonic dilatation carefully in colitis, and vital to operate before rupture.

•Both Crohn’s disease and ulcerative colitis can cause a similar picture of active colitis.

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CASE 64: HEADACHES

History

A 32-year-old woman is admitted to hospital with a 3-day history of failing vision, a reduced urinary output and ankle swelling. Four months earlier she had developed headaches which were generalized, throbbing and not relieved by simple analgesics. She does not smoke or drink alcohol; she is married with three children aged 8, 6 and 2 years. Her husband works for a travel firm which requires him to be absent frequently from home.

Two months before admission she consulted her general practitioner (GP) for the headaches; tension headaches were diagnosed and codeine phosphate prescribed. This gave no relief, and 3 weeks later she saw her GP again, and the analgesia was changed to a codeinecontaining compound analgesic.

Her symptoms continued unchanged until 3 days before admission when the headaches became worse, her vision became blurred and during the 24 h before admission she noted oliguria and ankle swelling. She presented at the emergency department.

The only other relevant medical history is the development of hypertension during the last trimester of her third pregnancy which was treated with rest and an antihypertensive. Delivery was spontaneous at term, and the antihypertensive drug was discontinued postpartum. The patient had not attended any postnatal clinics and her blood pressure had not been measured at the consultations for her headache.

Examination

She is conscious and seems well, but pale and clinically anaemic. There is slight ankle oedema. The blood pressure is 190/140 mmHg, and the jugular venous pressure is not raised. Otherwise her chest, heart and abdomen are normal. In the CNS, examination of the fundi shows papilloedema, retinal haemorrhages and exudates in both eyes. Visual acuity is reduced.

INVESTIGATIONS

Questions

•What is the diagnosis?

•What is the immediate management?

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ANSWER 64

This woman has accelerated hypertension, defined by the retinal papilloedema (grade IV retinopathy), and renal failure. At this stage it is not clear whether the renal failure is chronic, acute, or a mixture of acute on chronic.

Accelerated hypertension can occur as the initial phase of hypertension or as a development in chronic hypertension, and can be a feature of either primary (essential) or secondary hypertension. In this case it may have been superimposed on hypertension after the birth of her third baby, but the information is not available.

!Management

The immediate management is to:

•lower the blood pressure at a gradual rate over 24 h. Rapid reduction to normal figures can be extremely dangerous as the sudden change can precipitate arterial thrombosis and infarction in the brain, heart and kidneys and occasionally other organs. The details of the treatment will vary; either oral or intravenous antihypertensive drugs may be used.

•control the fluid intake according to fluid loss (urine plus insensible losses) and observe closely for the development of pulmonary oedema. Should that develop then dialysis will be urgently required as she will not respond to diuretics owing to the renal failure.

The important question with regard to the renal failure is whether this is developing in kidneys chronically damaged by hypertension or some other undiagnosed renal disease, and how much of it is reversible. Renal ultrasound, which is swift and non-invasive, will give an accurate assessment of kidney size. In this case they were reduced at 8 cm, and endstage renal failure followed. The impaired visual acuity recovered completely. It is possible that a window of opportunity to treat her hypertension at an earlier stage was lost when she presented with the headaches but her blood pressure was not measured; accelerated hypertension can destroy kidney function in a matter of days or weeks.

Accelerated hypertension was previously called malignant hypertension because before the development of effective antihypertensive drugs its mortality approached 100 per cent. This is no longer the case, and, furthermore, it gives patients the unfortunate and false impression that they have a form of cancer. The term should therefore no longer be used.

KEY POINTS

•Intrapartum hypertension must be followed up as it may indicate underlying renal disease and the beginning of chronic hypertension, primary or secondary.

•Patients with headache must always have their blood pressure checked.

•Avoid the term ‘malignant hypertension’.

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CASE 65: SORE THROAT

History

A normally healthy man aged 28 years developed an acute sore throat for which he consulted his general practitioner (GP). A diagnosis of acute pharyngitis was made, presumed streptococcal, and oral penicillin was prescribed. The sore throat gradually improved, but 5 days later the patient noted a rash on his arms, legs and face, and painful ulceration of his lips and mouth. These symptoms rapidly worsened, he felt very unwell and presented to the emergency department. There was no relevant previous medical history or family history. He has had sore throats occasionally in the past but they have settled with throat sweets from the chemist.

Examination

He looked ill and had a temperature of 39.2°C. There were erythematous tender nodules on his arms, legs and face, and ulcers with some necrosis of the lips and buccal and pharyngeal mucosae. The rest of the examination was normal.

INVESTIGATIONS

Blood film: neutrophil leucocytosis

His chest X-ray is shown in Fig. 65.1.

Figure 65.1 Chest X-ray.

Questions

•What is the diagnosis?

•What is the management?

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ANSWER 65

The diagnosis is acute drug hypersensitivity causing severe erythema multiforme (Stevens–Johnson) syndrome. The pointers to this diagnosis are the rapidity of onset and its timing related to starting the penicillin, antibiotics being the commonest group of drugs causing this syndrome, and the form and distribution of the lesions. The chest X-ray shown is normal.

!Differential diagnoses of the rash

•Streptococcal (presumed) infection spreading to the soft tissues; this is much less common in young healthy patients compared to the elderly; its distribution would be diffuse rather than discrete lesions, and was excluded by negative culture of the lesions.

•Acute leukaemia or neutropenia can present with mucosal ulceration, but not these skin lesions, and these diagnoses are excluded by the blood count and film.

Drugs other than penicillin should be considered as a cause, e.g. analgesics for the original painful throat. The patient had taken a few doses of paracetamol, leaving the penicillin as the likeliest candidate by far as the cause.

!Management

Management consists of:

•stopping the penicillin and substituting an alternative antibiotic if required: cultures were negative in this case at this stage

•a short course of steroids, e.g. 30 mg prednisolone daily for 5 days to reduce the inflammation

•observe for secondary infection of the ulcers

•analgesia

•warn the patient not to take penicillin or related drugs in the future

•record the penicillin allergy clearly in GP and hospital notes.

KEY POINTS

•A drug history is an essential part of every patient’s history.

•Always consider drugs as a cause of complications during a patient’s illness.

•Drug allergies should be recorded prominently in medical notes.

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CASE 66: URINARY FREQUENCY

History

A 37-year-old man presents to his general practitioner (GP) with a 5-day story of urinary frequency, dysuria and urethral discharge. In the previous 24 h he had become unwell, feeling feverish and with a painful right knee. He works in an international bank and frequently travels to Asia and Australia, from where he had last returned 2 weeks ago. There is no relevant past or family history and he takes no medication.

Examination

He looks unwell, and has a temperature of 38.1°C. His heart rate is 90/min, blood pressure 124/82 mmHg. Otherwise examination of the cardiovascular, respiratory, abdominal and nervous systems is normal. His right knee is swollen, slightly tender, and there is a small effusion with slight limitation of flexion. There is no skin rash and no oral mucosal abnormality. He has a cream-coloured urethral discharge.

INVESTIGATIONS

Blood film: neutrophil leucocytosis

X-ray of right knee is shown in Fig. 66.1.

Figure 66.1 X-ray of the right knee.

Questions

•How would you investigate and manage this patient?

•What is the likely diagnosis?

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ANSWER 66

The patient has acute gonorrhoea and gonococcal arthritis. The X-ray of the knee is normal. The diagnosis is made by microscopy of the discharge, which should show Grampositive diplococci, and culture of an urethral swab. The swab should be inoculated onto fresh appropriate medium straight away and kept at 37°C until arrival at the laboratory. Immediate treatment on clinical grounds with ciprofloxacin is indicated; penicillin should be reserved for gonorrhoea with known penicillin sensitivity, to prevent the development of resistant strains. Septic monoarthritis is a complication of gonorrhoea; other metastatic infectious complications are skin lesions and, rarely, perihepatitis, bacterial endocarditis and meningitis.

The patient disclosed that he had had unprotected sexual intercourse with prostitutes in Thailand and Singapore; he had had no intercourse following return to the UK so no fol- low-up of contacts was necessary. For advice on precautions and investigation for other sexually transmitted diseases he was referred to the sexually transmitted diseases (STD) clinic.

KEY POINTS

•All students and doctors should be confident in eliciting a sexual history.

•Accurate sexual histories are more likely when the patient feels confidence and empathy with the interviewer.

•Contact tracing is an important element of management of sexually transmitted disease.

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