100_Cases_in_Clinical_Medicine

CASE 60: WEIGHT LOSS

History

A 67-year-old man attends his general practitioner’s (GP’s) surgery. He says that he has lost 10 kg in weight over the last 4 months. This has been associated with a decrease in appetite and an increasing problem with vomiting. The vomiting has been productive of food eaten many hours previously. During the last month he has noticed some weakness, particularly in his legs, climbing hills and stairs.

He is a smoker of 20 cigarettes per day and drinks around 10 units of alcohol each week. There is no relevant family history. His past medical history consists of hypertension which was treated for 2 years with beta-blockers. He stopped taking these 4 months ago.

Examination

He looks thin and unwell. His pulse is 82/min. His blood pressure is 148/86 mmHg. There are no abnormalities to find on examination of the cardiovascular and respiratory systems. There are no masses to feel in the abdomen and no tenderness, but a succussion splash is present.

INVESTIGATIONS

Questions

•What is the likely explanation for these findings?

•What is the most likely diagnosis?

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ANSWER 60

The clinical picture suggests obstruction to outflow from the stomach. This would be compatible with vomiting of residual food some time after eating and the succussion splash from the retained fluid and food in the stomach. The biochemical results fit with this diagnosis. There is a rise in urea but not creatinine, suggesting a degree of dehydration. Sodium, chloride and hydrogen ions are lost in the vomited stomach contents. Loss of hydrochloric acid produces a metabolic alkalosis. In compensation, hydrogen ions are retained by exchange for potassium in the kidney and across the cell membranes, so leading to hypokalaemia, and carbonic acid dissociates to hydrogen ions and bicarbonate. The hypokalaemia indicates a considerable loss of total body potassium, which is mostly in the skeletal muscle, and explains the patient’s recent weakness.

The most likely cause would be a carcinoma of the stomach involving the pyloric antrum and producing obstruction to outflow. A chronic gastric ulcer in this area could produce the same picture from associated scarring, and gastroscopy and biopsy would be necessary to be sure of the diagnosis.

Gastroscopy may be difficult because of retained food in the stomach. In this case, after this was washed out a tumour was visible at the pylorus causing almost complete obstruction of the outflow tract of the stomach. The next step would be a computed tomography (CT) scan of the abdomen to look for metastases in the liver and any suggestion of local spread of the tumour outside the stomach. If there is no evidence of extension or spread, or even to relieve obstruction, laparotomy and resection should be considered. Otherwise chemotherapy and surgical palliation are treatment options.

KEY POINTS

•Vomiting food eaten a long time previously suggests gastric outlet obstruction.

•Mild-to-moderate dehydration tends to increase urea more than creatinine.

•Prolonged vomiting causes a typical picture of hypochloraemic metabolic alkalosis.

•Carcinoma of the stomach can present without abdominal pain or anaemia.

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CASE 61: LOSS OF CONSCIOUSNESS

History

A 52-year-old man is brought to the emergency department by ambulance. His wife gives a history that, while standing at a bus stop, he fell to the ground and she was unable to rouse him. His breathing seemed to stop for about 20 s. He then developed jerking movements affecting his arms and legs lasting for about 2 min. She noticed that his face became blue and that he was incontinent of urine. He started to recover consciousness after a few minutes although he remains drowsy with a headache. The man has not complained of any symptoms prior to this episode. There is no significant past medical history. He is a taxi driver. He smokes 20 cigarettes per day and consumes about three pints of beer each night.

Examination

He looks a fit and well-nourished man. He is afebrile. There is some bleeding from his tongue. His pulse is 84/min and regular. His blood pressure is 136/84 mmHg. Examination of his heart, chest and abdomen is normal. There is no neck stiffness and there are no focal neurological signs. Funduscopy is normal. His Mini-mental test score is normal.

INVESTIGATIONS

Questions

•What are the differential diagnoses of this episode?

•How would you investigate and manage this patient?

•What implications does the diagnosis have for this man’s livelihood?

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ANSWER 61

This man has had an episode characterized by sudden onset loss of consciousness associated with the development of generalized convulsions. The principal differential diagnosis is between an epileptic fit and a syncopal (fainting) attack. Syncope is a sudden loss of consciousness due to temporary failure of the cerebral circulation. Syncope is distinguished from a seizure principally by the circumstances in which the event occurs. For example, syncope usually occurs while standing, under situations of severe stress or in association with an arrhythmia. Sometimes a convulsion and urinary incontinence occur. Thus, neither of these is specific for an epileptic attack. The key is to establish the presence or absence of prodromal symptoms. Syncopal episodes are usually preceded by symptoms of dizziness and light-headedness. Other important neurological syndromes to exclude are transient ischaemic attacks, migraine, narcolepsy and hysterical convulsions. Transient ischaemic attacks are characterized by focal neurological signs and no loss of consciousness unless the vertebrobasilar territory is affected. The onset of migraine is gradual, and consciousness is rarely lost. In narcolepsy, episodes of uncontrollable sleep may occur but convulsive movements are absent and the patient can be wakened.

In this man’s case the episode was witnessed by his wife who gave a clear history of a grand mal (tonic–clonic seizure). There may be warning symptoms such as fear, or an abnormal feeling referred to some part of the body – often the epigastrium – before consciousness is lost. The muscles become tonically contracted and the person will fall to the ground. The tongue may be bitten and there is usually urinary incontinence. Due to spasm of the respiratory muscles, breathing ceases and the subject becomes cyanosed. After this tonic phase, which can last up to a minute, the seizure passes into the clonic or convulsive phase. After the contractions end, the patient is stupurose which lightens through a stage of confusion to normal consciousness. There is usually a post-seizure headache and generalized muscular aches.

In adults, idiopathic epilepsy rarely begins after the age of 25 years. Blood tests should be performed to exclude metabolic causes such as uraemia, hyponatraemia, hypoglycaemia and hypocalcaemia. Blood alcohol levels and gamma-glutamyltransferase levels should also be measured as markers of alcohol abuse. A computed tomography (CT) scan of the brain is needed to exclude a structural cause such as a brain tumour or cerebrovascular event. This man should be referred to a neurologist for further investigation including an electroencephalogram (EEG). This is necessary as he will probably not be able to continue in his occupation as a taxi driver. Treatment with anticonvulsants for a single fit is also controversial.

KEY POINTS

•It is vital to get an eye-witness account of a transient neurological episode to make a diagnosis.

•New-onset epilepsy is rare in adults and should therefore be fully investigated to exclude an underlying cause.

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CASE 62: MEMORY LOSS

History

A 38-year-old man presents to a neurologist having been referred because of memory loss and difficulty with concentration. He has recently lost his job in a high-street bank because of his increasingly poor performance at work. His wife and friends have noticed the decline in his memory for recent events over the past 6 months. The patient is sleeping poorly and has developed involuntary jerking movements of his limbs especially at night. He appears to his wife to be very short-tempered and careless of his personal appearance. He is married with two children and neither smokes tobacco nor drinks alcohol. He is not taking any regular medication. Aged 15, he received 2 years’ treatment with growth hormone injections because of growth failure.

Examination

In the nervous system, muscle bulk, power, tone and reflexes are normal but there are occasional myoclonic jerks in his legs. The examination of cardiovascular, respiratory and abdominal systems is entirely normal. Funduscopy is normal. Mini-mental test scoring is grossly subnormal (4 out of 10).

!Mini-mental State questionnaire

•What is the name of this place?

•What is the address of this place?

•What is the date?

•What month is it?

•What year is it?

•How old are you?

•When is your birthday?

•What year were you born?

•Who is the Prime Minister?

•Who was the previous Prime Minister?

Questions

•What is the diagnosis?

•What are the major differential diagnoses of this condition?

•How would you investigate and manage this patient?

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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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