Professor Murtagh case study

In this brain teaser quiz you are invited to match the clinical and pathological features with disability or death in historically famous people

1. John Fitzgerald Kennedy

2. Napoleon Bonaparte

3. Alexander the Great

4. Cleopatra

5. King George III

A. Haematuria, ptosis, convulsions, prolonged APTT

B. Muscle weakness, dizziness, hyponatraemia, hyperkaelaemia, metabolic alkalosis, 

      lymphocyctic infiltration of adrenal cortex

C. Hyponatraemia, discoloured urine (on standing in light), recurrent psychiatric 

     illness precipitated by alcohol and barbiturates, peripheral neuropathy, 

     abnormalities in basal ganglia

D. Myalgia, periodic fever, delirium, parasites on blood film

E. Anorexia, dyspepsia, vomiting, weight loss, iron deficiency anaemia, 'liinitis

     plastica' of stomach

 

Answers

1. B-Addison disease

2. E- Carcinoma of stomach

3. D- Malaria

4. A- Snake bite

5. C- Porphyria

A 42-year-old school teacher presented with a 4-year history of recurrent abdominal discomfort, constipation, feeling bloated and excessive wind. She described cramping central abdominal pain, partly relieved by opening her bowels and also passing wind which occurs every 2 to 3 days.

 

The problem is more frequent when she eats stone fruit such as peaches, plums and nectarines and also aggravated by eating satay or nuts and certain vegetables such as broccoli and brussel sprouts. She has been prescribed bran by a naturopath but it tends to make the flatulence worse

Although mainly constipated she gets loose bowels, rather like diarrhoea, for about 2 days every 2 to 3 months. In fact, she claimed that her problem commenced after a bout of gastroenteritis when she was visiting relatives in the country 4 years ago. She frequently experiences a sensation of incomplete bowel emptying and sometimes passes mucus which she finds embarrassing. Constitutional symptoms can include anorexia, nausea, fatigue and difficulty sleeping. She is a non-smoker and does not drink alcohol. 

 

On physical examination the vital signs are normal and there is mild tenderness to palpation in the epigastrium and left lower quadrant. Rectal examination and pelvic examination is normal.

 

Over recent years the patient has had prior investigations which include stool examination, full blood examination, thyroid function tests, colonoscopy and gastroscopy, all of which have been reported as normal. 

 

Discussion

This is a typical clinical presentation of irritable bowel syndrome (IBS). It is also referred to as irritable colon or irritable digestive system.  It is a diagnosis of exclusion following a normal thorough physical examination and normal basic screening investigations including stool microscopy and culture and sigmoidoscopy/ colonoscopy.

 

Refer to the Rome II diagnostic criteria for IBS

Jaundice in a neonate

A two-week old infant boy is brought along by his mother who is concerned about his increasing jaundice. He had a normal delivery but became jaundiced on day three. Both mother and baby are blood group O positive and the baby's blood film was normal. He was treated by phototherapy for two days but since discharge on day seven the jaundiced has persisted despite the child being well with satisfactory breast feeding.

On examination the child is active and clinically normal apart from jaundice. The urine and stools are normal in colour. Investigations were serum bilirubin 240 µmol/L (conjugated <10 µmol/L); FBE normal; urine culture normal.

Questions
1. What is your provisional diagnosis?
2. For that diagnosis what is your management?
3. What is the most common cause of non-physiological neo-natal jaundice in our community?
4. What cause of neonatal jaundice demands urgent referral?

Answers
1. Because of unconjugated hyperbilirubinaemia the most likely diagnosis is breast milk jaundice.
2. Mother should be reassured that the condition is self limiting and requires no treatment. The diagnosis can be confirmed by suspension of breastfeeding for 24-48 hours which will result in a fall of serum bilirubin. In this situation temporary expression of milk will maintain lactation.
3. The most common cause is haemolytic jaundice especially ABO blood group incompatibility.
4. Beware of conjugated bilirubin which is pathologic and indicates biliary atresia in the newborn. Also consider neonatal hepatitis.

---

Unexplained stroke in a healthy adolescent

A 15  year old schoolgirl who had been in perfect health was found in the early hours of the  morning, collapsed on the floor of her bedroom, Her parents had been woken by a loud noise (presumably due to her falling) and had found her lying on the floor unable to speak or move.

On examination during a home visit she was lying stuporose on the floor, unable to speak or understand the spoken word. She had a dense right hemiparesis involving the arm, leg and face and swallowing was impaired. There was no neck stiffness. Cardiac examination was normal. There was no evidence of bruits in the neck, ocular fundi were normal.

The patient was transferred to hospital by ambulance where she underwent investigation.   There was no evidence of emboli or blood in the urine. Routine haematology and urine tests, ECG and chest X-ray were all normal.

Questions:
1. What could be an explanation of this unusual presentation?
2. What further investigations are appropriate in this girl?

Answers:
1. This adolescent girl has a paradoxical embolus also called cryptogenic stroke. It can occur with a patent foramen ovale, atrial septal defect or ventricular septal defect.
2. Further investigations  in this person included a CT scan of the brain, angiography and tests for thrombophilia including lupus anticoagulation screen. These tests revealed cerebral infarction but no haematological disturbances, however a transoesophageal echocardiograph using a contrast demonstrated right to left shunting through a large patent foramen ovale. The defect can be closed with a percutaneous image guided 'umbrella' device.

---

Acute respiratory distress 3 days after trauma

A 30 year old man sustained a fractured pelvis after he fell 3 metres from a ladder. He is admitted to hospital for intravenous fluids and pain management. He also has soft tissue injuries but these are not a concern. He is normally a very healthy young man but has a history of asthma. Three days later he developed unexplained sudden deterioration of his health with confusion, agitation and shortness of breath.
On examination he has a petechial rash on the anterior chest, neck, axilla, conjunctiva and inside his mouth on the mucous membranes. His vital signs pulse 120/min,respiration 20/min, temperature 38°C, blood pressure 100/65, PaO2- 55. Auscultation of the lungs reveals some diffuse crackles and wheezes.  

Questions
1. What is your provisional diagnosis?
2. What investigations would be appropriate at first?

Answers
1. The man with major trauma to his pelvis has a fat embolism whereby fat droplets from an open fracture enter the systemic venous circulation and embolise to the lungs. Fat embolism is more commonly encountered in fractures to long bones especially the femur. This pulmonary syndrome is similar to acute respiratory syndrome (ARDS).
2. First line investigations should be a chest X ray and examination of the sputum and urine for fat droplets. The treatment is oxygen by mask.

---

A challenging infection in a refugee

MR is a thirteen year old refugee from Afghanistan who had arrived in Australia with his family 4 months prior to seeking medical treatment. His presenting complaint was a 2 week history muscle pains in his neck, lumbar spine and legs in particular. He complained also of weakness in his legs with spasms of cramp like muscle pain and paraesthesia. He described a preceding 'flu' like illness with fever, sore throat, headache, nausea, diarrhoea and neck stiffness.

On examination he looked unwell and walked with some degree of discomfort. His vital signs were pulse 86/min. BP 110/70 mm Hg, resps 14/min, temperature 37.8 0 C. Neurological examination of the lower limbs revealed muscle weakness especially of quadriceps muscle of the left leg (level 4- power), reduced deep tendon reflexes but normal sensation. Mild neck stiffness was elucidated.

In view of the pattern of aseptic meningitis and lower motor neurone signs he was admitted to an infectious disease unit of a hospital where investigations (CSF, FBE, paired serology, throat swab and stool culture) confirmed the diagnosis of acute anterior poliomyelitis. The responsible picornavirus, an enterovirus which specifically attacks the anterior horn cells of the spinal cord, was identified. The patient came from a region where the infectious disease was still prevalent and immunisation against poliovirus not routinely available or accessed.

---

A strange reaction

Kim is a 55 year old teacher who developed herpes zoster (shingles) of the T 11 and 12 dermatomes. It was treated symptomatically but she eventually developed post-herpetic neuralgia. She was treated with paracetamol at first and then eventually with amitriptyline. She had a modest response and the dose was increased to 100mg at night. She complained of occasional severe spasms of pain in the right groin. She was prescribed 100mg tramadol for these severe spasms.  After her second dose of tramadol she presented with anxiety. agitation and confusion. Further history revealed associated fever, diarrhoea, muscle twitching and palpitations. On examination she appeared confused and restless. Her vital signs were pulse 120/minute, BP 155/100 mmHg, respiration 15/min, temp 90 degrees. Neurological examination revealed a fine tremor, hyperreflexia and increased muscle tone.

Discussion: Kim has developed the serotonin syndrome which is really a clinical diagnosis. It is a toxic hyperserotonergic state that can be caused by the combined use of  two or more drugs that increase serotonin levels. Classic examples are antidepressants e.g. SSRI and MAO inhibitors, selegiline and tricyclic antidepressants (TCA), opioids and antidepressants. Anti emetics and antipsychotic agents can also cause the syndrome which is potentially life threatening. Early recognition is important with cessation of the responsible drugs and symptomatic support. The opioid -tramadol- used alone can cause the serotonin syndrome.

---

A 6 year old boy with knee pain and a limp


Charlie is a very healthy and active six year old schoolboy who is brought to the surgery by his mother because she is concerned and puzzled by his complaint of right knee pain. He says that he has had a sore knee on and off for two to three days and has developed a noticeable limp. His mother could not find any soreness or other signs on the knee. 

She said that there was no history of an injury although he has been playing football recently. About two weeks ago he did have a mild upper respiratory infection.

On examination the child looked well, 50th centile for height and weight with normal vital signs including his temperature. Examination of the knee was normal with no localised tenderness and a normal range of active and passive movements. However examination of his right hip revealed limitation of internal rotation, abduction and extension. Charlie complained of knee pain during these movements especially passive movements.

Diagnosis: Irritable hip due to transient synovitis related to a preceding viral infection. Plain X ray was normal but ultrasound showed fluid in the hip joint. He was treated with bed rest and ibuprofen and settled to normality in 7 days. A follow up X-ray was arranged in 6 months to exclude Perthes disease.

Practice point: Remember that pathology in the hip can present with ipsilateral knee pain.

---

Puzzling lower cyclic abdominal pain in a 13 year old girl

Amy, a 13 year schoolgirl, presented with a five-month history of suprapubic discomfort. The pain was mild at first and after two episodes, about one month apart, her parents took her to a hospital. She was examined and no abnormality was found and the family was reassured that it was some form of colic of the lower gut. The lower abdomino-pelvic pain eventually returned and was more intense. It was now accompanied by mild constipation and low back pain. Basic investigations which included a full blood examination, urine-analysis and a plain X-ray were reported as normal. She was prescribed a laxative to make her bowels more regular. The pain settled again for about 3 weeks but on recurrence she saw another doctor who ordered ultrasound imaging of her lower abdomen. It did not reveal any abnormality. At the fifth visit to a private general practitioner for worse pain she complained of some difficulty with urination and felt that emptying of her bladder was incomplete. Physical examination now revealed mild distension of the suprapubic area and a palpable mass up to 3 cm above the symphysis pubis.

Diagnosis: The doctor took an appropriate genitourinary history and found that Amy had not commenced menstruation. On inspection of her external genitalia there was a distinct tense bluish bulging membrane presenting at the introitus-compatible with vaginal distension from menses caused by an imperforate hymen. A further ultrasound indicated a distended vagina and enlarged uterus. A cruciate incision was made in the hymen and 300ml of blood was drained.

---

60 year housewife with long standing tremor

Kath, a 60 year old housewife, presented with a tremor involving her head and to a lesser extent the upper limbs. There was mild asymmetry. The tremor was made worse with anxiety and was not present at rest. There was no loss of dexterity or of fine finger movement and the main complaint was related to embarrassment. On questioning it was revealed that the tremor was present for most of her adolescent life when stressed, but had begun to intrude at other times only recently. She recalled that her mother also had a tremor late in life. The patient did not take medications but had noticed that about half a glass of wine at a dinner party helped the tremor. There was no previous significant illness. There was no slowing of gait or postural instability but her handwriting had deteriorated.
On examination there was a mild nodding tremor of the head with some tremor about the mouth. There was also some mild tremor detected in the voice. There was also a predominantly proximal postural tremor of 6 to 9 Hz. Arm swing and gait was normal.

Diagnosis and discussion: The most likely diagnosis is essential tremor, also referred to as benign tremor, familial tremor, senile or juvenile tremor. It is essentially a clinical diagnosis. Head tremor which is usually a nodding or ‘yes-yes’ tremor is a common feature.  The first line management is explanation and reassurance. Most patients cope with this problem throughout life without the need for medication.

---

A dangerous case of post-flu fatigue

Melinda, a 17 year old student, attended because she was feeling weak in her arms, especially in the right arm and wrist where she described a tingling sensation that had been present for the past 24 hours. Her recent history was that of a febrile illness ‘rather like the flu’ a few days beforehand and then she unwisely played several games of tennis in a tournament that finished the previous day. She eventually had to withdraw.
Melinda also complained of headache, nausea and an aching jaw as well as the right arm weakness. Sensation to touch was normal and her reflexes were equivocal. I attributed the problem to soreness following sporting overload after a viral infection.  Notwithstanding her age I considered the possibly of carpal tunnel syndrome.

Upon planned review two days later I noticed a dramatic and disturbing change. She walked with considerable difficulty into the surgery looking well but was weak in all limbs with obvious motor weakness and loss of reflexes. She was also having breathing difficulty and her peak flow was markedly reduced.

Diagnosis: She was in fact suffering from Guillain-Barre syndrome (acute idiopathic demyelinating polyneuropathy). She was admitted to hospital where she eventually received assisted ventilation for a few days without developing complete paralysis.

---

A cascade of cardiac events

This history really happened to one of my patients, Nancy, a 56 year old farmer’s wife. She initially presented with 12 months of gradual increasing exertional dyspnoea, chest tightness and dizziness.

Once eliminating anaemia the classic diagnostic triad that I learned as a student struck me “dizziness/syncope + angina + exertional dyspnoea → aortic stenosis”. On auscultation there was the harsh systolic ejection murmur of aortic stenosis. She was referred to a physician who considered that intervention was not necessary but “let’s watch her”.

About 3 months later she collapsed in the farm yard. I thought that it was a syncopal episode of aortic stenosis but she looked quite sick and had temperature of 38.7 0 C. (valvular lesion + fever →bacterial endocarditis). I eventually convinced the admitting officer of our city teaching hospital to admit her.

After 3 days of procrastination about best management she suddenly developed hemiparesis- an embolic stroke. It was due to a mycotic embolus from a vegetating aortic valve. Streptococcus viridans was the organism. A stormy course followed and seven months later she returned home with a prosthetic valve, hemiplegia and cardiac failure. There are many lessons to be learned from this classic but sad case.

---

 

Torsion of the testis — a potential disaster

Greg N, aged 15, presented with one hour of the sudden onset of severe suprapubic and right groin pain with associated vomiting. On examination the right testicle was tender, red and swollen. Its elevation increased the pain His GP referred him to the nearest surgeon and asked him to attend to it urgently. However he was placed at the end of the operating list and when operated on 8 hours from the onset of the pain an orchidectomy was performed because the testicle was infarcted and necrotic. The surgeon has mismanaged the case of Greg.

One of the classic challenges facing the general practitioner is the early diagnosis and quick referral of a testicular torsion. The loss of a testicle, an avoidable problem, is a real “time bomb”. Apart from the distress for the patient and his family, the legal consequences are terrible for the practitioner. It is an all too common cause of litigation.

The time factor: The optimal time to operate for torsion of the testis is within 4 to 6 hours from the onset of the pain. About 85% of torsive testes are salvageable within 6 hours but by 10 hours the salvage rate has dropped to 20%1,2  At surgery the testicle is untwisted and an orchidopexy (anchoring the testicle) is performed. A gangrenous testicle is removed.

Cautionary tales: Many testicles are lost because of inappropriate delays with referring for an ultrasound. The patient should be referred immediately to a surgeon or surgical centre. Teenage boys presenting with acute right iliac fossa pain, nausea and vomiting are sometimes misdiagnosed as acute appendicitis.

References:
1. Bird S. Medicolegal handbook for general practice. Melbourne: RACGP. 2006; 52-3
2. Wijesinha SS. Torsion of the testis. Update 19 February 1997; 218

---

Bizarre behaviour in a 35 year old woman

A 35 year old receptionist came for a consultation with her husband who described some unusual episodes of abnormal behaviour over the past 3 weeks. These began with an unfocussed stare and, at that time, did not respond to anything said to her. She licked or smacked her lips, and her mumblings could not be comprehended. She appeared to make the same noise on each occasion. She would continue doing activities that she had been doing at the time but in a poorly directed manner. On other occasions she would tug or pluck at her clothes. Sometimes she would pace around the room. Each episode lasted about two minutes and ended with the patient looking bewildered and uncertain about what had eventuated. Apparently the episodes had been occurring at work for about 4 weeks.

Diagnosis and discussion: This patient has complex partial seizures (temporal lobe epilepsy is a common subset). The major issue in making the correct diagnosis is that CPS always indicate a pathological process within the cortex (albeit frequently temporal cortex). This epilepsy may be the first symptom of an underlying progressive disorder such as a cerebral tumour. Correct diagnosis is important for recognising serious underlying pathology and for correct treatment. Complex seizures may progress to generalised seizures. A routine EEG may provide evidence of a focus. A CT scan or MRI is mandatory if the EEG suggest focal epilepsy. Focal epilepsy is notorious for being difficult to control.  Carbamazepine is usually the agent of first choice and or sodium valproate.

Acknowledgement: Professor Malcolm Horne

---

Henoch-Schonlein purpura

Case history: A five-year-old boy is brought to the surgery because of the sudden appearance of a purpuric rash on his lower limbs (see photograph). His mother said that he is usually well but had an upper respiratory infection with a sore throat preceding the onset of the rash. The child had also complained of mild colicky abdominal pain and sore ankles causing him to walk with a limp. She was concerned about the possibility of meningococcal infection or leukaemia when her nephew developed a similar rash.

Physical examination: On examination the child looked well but had a raised purpuric rash on his legs (as shown). There was no bruising (a sign suggestive of leukaemia). His vital signs were pulse 85/min, BP 100/70, temp 37.4 0 C, respiration 22/min. His ankles were slightly swollen but there was a good range of movement despite moderate discomfort. His abdominal examination was normal. Dipstick testing of his urine was positive for blood and protein.
A full blood examination including platelets was normal.

Diagnosis: This child almost certainly has Henoch-Schonlein purpura which usually has a good prognosis and no specific treatment is usually required. The main serious complications are intussusception and renal involvement (nephritis). Follow up is important with review of blood pressure, urine analysis and kidney function tests. The cause of Henoch-Schonlein purpura is IgA-containing immune complexes deposited in small blood vessels (vasculitis). In this case the probable inciting antigen is the virus causing the URTI.

Photograph courtesy of McGraw Hill Publishing Company. Image used with permission.

---

A painful hip in a 52 year old woman

Chin Lim is a 52 year old housewife who presents with a 5 month history of pain in her right hip. The pain has been gradually getting worse and is worse after long walks and gardening. She took up power walking some months ago and believes that the pain started soon after the increased exercise. More precise questioning reveals that the pain is mainly in the upper thigh and radiates down the outside of the leg to the knee. At times the pain can radiate as far as the foot. The pain is particularly worse when she lies on her right side in bed but is better when she lies on her left side. She describes difficulty getting out of a car door because of a sharp pain in the hip area and increased discomfort climbing stairs. She also walks with a limp.

Physical examination: The patient looks well but is overweight. Her vital signs including temperature are normal. She walks with a slight limp. On palpation there is tenderness especially to deep palpation over the upper greater trochanter and immediately above it. Movement of the hip and knee joints are free and painless.

Diagnosis: Chin Lim has a very common condition called trochanteric bursalgia, also known as trochanteric bursitis or greater trochanteric pain syndrome which is the preferred name. The basic pathology is tendonitis of the gluteus medius muscle which is a hip abductor. The inflammation involves the two bursae around the greater trochanter. Tendonitis and bursitis co-exist. It is amazing how many cases of the greater trochanteric pain syndrome you find in middle aged women presenting with ‘hip’ pain when you know about it and look out for it. It is a clinical diagnosis but can be verified on imaging e.g. ultrasound or MRI

---

Two cases of distressed crying infants

Crying is excessive if it lasts for long periods when the baby should be sleeping or playing. The following is a check list of important causes
• hunger (underfeeding is the main feeding problem causing crying)
• wet or soiled napkin
• loneliness (crying usually ceases when baby is picked up)
• infantile colic (a possibility at 2-16 weeks)
• teething (an uncommon cause and more likely after 12 months)
• reflux oesophagitis

Case 1: Lachlan M aged 10 weeks
Lachlan presented with prolonged crying lasting for at least 3 hours each evening starting at about 6pm. He flexes his legs, stiffens his body and clenches his fists probably because of 'stomach ache'.
He has infantile colic-a very common condition. His parents in frustration purchased Hartley's Gripe Water at the pharmacy but he developed very loose bowels and a nappy rash with apparent mild relief . Management included education with handout and reassurance that the colic will settle in a few weeks. The safest agent to prescribe if any is a simethicone preparation e.g. Infacol Wind drops.

Case 2: Felicity aged 9 months
Felicity presented with at least 7 months of posseting and reflux and more recently considerable crying and inconsolable distress.
A provisional diagnosis of peptic oesophagitis was made with arrangement for referral for gastroscopy and a prescription for omeprazole 5mg bd in the interim. By the time she saw the specialist her symptoms has improved dramatically  Reflux usually improves with age but in some cases complications occur and require monitoring.
Reflux which usually clears up by 12 months of age can be helped by elevating the head of the cot, thickening the feeds, frequent small feeds and propping up the baby after feeds.

---

Acute severe vertigo in a sixty one year old housewife

A sixty one year old woman presents with the sudden attack of severe vertigo and vomiting when she awoke in the morning. She also experienced numbness on the right side of her face and numbness down the left side of her body along with the intense spinning of the room around her. Other symptoms included headache and loss of sense of taste. Her past history includes obesity, hypertension and hypercholesterolaemia.

On examination the patient is lying still and is afraid to move her head because it provokes vertigo and vomiting. Her vital signs are normal apart from a BP of 165/90 mmHg. The cardiovascular examination is normal

Examination of the nervous system is as follows:

• Nystagmus: present to the right
• Ataxia: falls to the right side on sitting
• Sensory impairment on right side of face
• Sensory impairment on left side of body
• Horner syndrome positive for right eye
• Impaired coordination on right (finger-nose test)
• Power, tone and reflexes normal

This presentation is typical of a stroke affecting the cerebellum and/or brain stem due to a disturbance in the vertebrobasilar circulation. In fact it is a specific brain syndrome due to infarction of the posterior inferior cerebellar artery which is the largest branch of the vertebral artery and supplies the lateral part of the medulla. It is also known as lateral medullary syndrome or Wallenberg syndrome. In this case the right PICA is involved. The patient should be admitted to a stroke unit as soon as