Murmur	Features
Stills’ murmur	Early soft systolic
	Lower left sternal edge
Pulmonary flow murmur	Soft ejection systolic
	2nd left intercostal space
Venous hum	Continuous systolic
	Right clavicle

COMMENTS ON STATION 2

DIAGNOSIS: ALAGILLE’S SYNDROME

If you have an Aspergeresque memory then Alagille’s is an autosomal dominant disorder owing to mutations in the JAG1 gene on chromosome 20p12. JAG1 codes for a NOTCH receptor ligand important in cell-cell interactions and in development. Different mutations have been described, 70% of which are sporadic.

It is much more important to remember some of the key features. Alagille’s syndrome is characterised by a paucity of interlobular bile ducts (intrahepatic cholestasis).

The classic syndrome consists of:

1. Jaundice in early infancy (and chronic cholestasis)

2. Characteristic facies (prominent forehead, chin and nasal bridge, deep- set eyes, upward sloping palpebral fissures)

3. Pulmonary stenosis

4. Butterfly vertebrae

5. Growth and mental retardation

6. Ocular anomalies, e.g. posterior embryotoxon-opaque border to cornea.

In this case the scar was for a liver biopsy, not a Kasai procedure. The murmur was an ejection systolic murmur typical of pulmonary stenosis. Examination would have been completed by examining the back for evidence of vertebral abnormalities and looking for evidence of scratch marks on the skin (the pruritus is intense).

Treatment is with cholestyramine (for the itch) and phenobarbital. Liver transplants may be needed for severe cholestasis.

REMINDER

A HIDA scan is used to differentiate between intra- and extrahepatic causes of cholestasis. Infants need phenobarbital prescribed for approximately 5 days before this investigation (easy to remember; looks good if you get asked).

CAN YOU …

Describe the appearance of these scars?

• Kasai

• Liver biopsy

• Liver transplant (classically a ‘Mercedes Benz scar’)

• Cholestectomy (laparoscopic/open)

• Pyloroplasty

See Figure 4 on page 89.

COMMENTS ON STATION 3

DIAGNOSIS: MYASTHENIA GRAVIS

The presence of bilateral ptosis makes a myopathy a more likely diagnosis. Myopathies are neuromuscular disorders in which the primary symptom is muscle weakness. Myopathies can be inherited or acquired. They may be categorised into:

• Congenital myopathies

• Muscular dystrophies

• Mitochondrial myopathies

• Glycogen storage diseases of muscle

• Dermatomyositis

• Myositis ossificans

• Polymyositis.

Exclude a dystonia (e.g. myotonic dystrophy) by shaking hands with the patient. A dystonia is a neurological movement disorder characterised by sustained muscle contractions, usually producing twisting and repetitive movements or abnormal postures or positions.

In the presence of reduced power exclude myasthenia gravis by demonstrating fatiguability (loss of strength upon exertion that improves after rest). A suitable answer would be:

‘On examining Jasmine she appears young for her age and I would like to confirm this by plotting her height and weight on the appropriate growth chart. Neurologically I noted an expressionless facies, bilateral ptosis and demonstrated fatiguability on assessing her power. There was no evidence of dystonia and reflexes were normal. I would like to complete my examination by examining her eye movements and assessing her cranial nerves. The most likely diagnosis is myasthenia gravis.’

This is a rare disorder but by thinking systematically and by demonstrating assessment of fatiguability you are showing your thinking. Mentioning growth and delayed puberty shows knowledge regarding chronic disorders.

Myasthenia gravis is a disorder resulting in progressive muscle weakness. It arises due to reduced acetylcholine transfer/receptiveness across the neuromuscular junction. In the neonatal period this may arise due to inherited defect of the acetylcholine receptor or to transplacental transfer of the immunoglobulin from the mother suffering from myas- thenia gravis.

Juvenile myasthenia is an autoimmune disease. In this age group, symptoms commonly involve the ocular muscles but can affect the lower cranial nerves and respiratory muscles.

Treatment should be part of a multidisciplinary team involving liaison between neurologist, local paediatrician, school and GP.

Investigations
Anti-AChR antibodies assay	Positive in approximately 50% of patients
Anticholinesterase test (Tensilon test)	Administration of edrophonium
EMG	Repetitive nerve stimulation (RNS) should lead to a decremental response in compound action potentials on EMG
Muscle biopsy	Fewer acetylcholine receptors on histological analysis
CT/MRI	Look for evidence of thymoma
Other	Autoantibodies Consider thyroid function looking for evidence of other autoimmune disease

Treatment
Anticholinesterase medication	Pyridostigmine
Immunosuppressants	Steroids, azathioprine, Ciclosporin
Plasmapheresis
Intravenous immunoglobulin
Thymectomy

COMMENTS ON STATION 4

DIAGNOSIS: CHRONIC LUNG DISEASE

‘On examining Simon I notice he has supplemental oxygen of 1l/min via nasal cannulae. He appears small and I would like to confirm this by plotting his length, weight and head circumference on a growth chart, correcting for gestational age. On assessment of his respiratory system I note he is hyperexpanded as evidenced by an increased anterior-posterior diameter. There is no evidence of crackles or wheeze. I also noted a lateral thoracotomy scar, which suggests ligation of a persistent ductus arteriosus. These findings suggest a diagnosis of chronic lung disease.’

In this age group the diagnosis of chronic lung disease is the most likely. Patients will not always have clinical findings on auscultation but nevertheless you should use this time to formulate your answer to the examiner. Chronic lung disease is currently defined as an oxygen dependency at 36 weeks post-conceptional age. Look for other clues associated with prematurity.

Tips
Exam	Look for other clues like scars • Chest drains • PDA ligation • VP shunt • Inguinal hernia repair • NEC scars/drains • Central lines May/may not be wheeze and crackles Growth and weight may be low

Management – Respiratory OxygenPrevention of infection – immunisation Medication

• Inhaled steroids

• Bronchodilators

• Diuretics

• Na/K/PO₄ supplements

• Vitamins

• Fe

Dietician Optimise nutrition and supplements Muitidiscipiinary team Community and hospital (neonatologists/ tertiary specialists/GP/health visitor/community paediatrician)

COMMENTS ON STATION 5

DIAGNOSIS: OSTEOGENESIS IMPERFECTA

The request to examine the eyes at this station was a clue regarding a diagnosis of osteogenesis imperfecta. Although time constraints prevented one author from demonstrating all these features, the examiner did agree the blue sclera were a soft sign and must have felt the candidate had demonstrated a competent eye examination as the candidate was awarded a good mark.

Do not be put off if you cannot identify positive signs. Examiners are aware that some patients will have soft signs and will guide you if signs are present. However, on occasion patients are provided who have no positive physical signs – do not be tempted to make something up!

Tips for examining eyes

Inspection	Squint Nystagmus Ptosis Swelling/red eye Glasses Kayser-Fleischer rings (Wilson’s disease) Blue sclera (connective tissue disease) Other general features, e.g. growth, dysmorphism
Acuity	Snellen chart Reading
Pupils (test second and third cranial nerves)	Pupil size Light reflexes Accommodation reflexes Relative afferent papillary defect
Visual fields (second cranial nerve)	Use red marker/fingers
Eye movements (third, fourth and sixth cranial nerves)	Nystagmus Diplopia (and which image is lost on closing different eyes)
Cover test	Testing strabismus
Fundoscopy	Optic discs: • Optic atrophy • Papilloedema • Papillitis • Retinitis pigmentosa • Hypertension • Diabetic changes • Miscellaneous, e.g. cherry-red spot

OSTEOGENESIS IMPERFECTA

This musculoskeletal disorder results from an abnormality within collagen. Many forms have been described and may be inherited as autosomal dominant or recessive. The table below lists features common to the various types.

History	Easy bruising Fracture after trivial trauma Deafness Significant family history Antenatal fractures/limb shortening/miscarriages
Examination	Blue sclerae (not present in all types) Kyphoscoliosis Hearing aids Plaster casts/scars from fractures Joint hypermobility Short stature Dysmorphic facies (e.g. frontal bossing/triangular facies) Dentition anomalies
Investigation	Bone mineral density Other, e.g. skin biopsy culturing dermal fibroblasts Skeletal survey – fractures/healing fractures/osteopenia/broad bones
Treatment	Surgery • Scoliosis correction, e.g. intramedullary rodding Genetic counselling Parental education, e.g. optimal holding position of child; shock-absorbing footwear; orthotics No definitive medical treatment available

COMMENTS ON STATION 6

DIAGNOSIS: UNDERGOING INVESTIGATION FOR AUTISTIC SPECTRUM DISORDER

This is the nightmare situation for many candidates. You have been given a difficult task to begin with, which is made worse by the potential uncooperative nature of the child. Do not panic; take a deep breath and reiterate the instruction in your mind. The examiner will almost certainly share your anguish. The instruction was to assess the speech and language of a preschool-age child. An approach to the station may be:

‘At present Matthew appears not to want to be disturbed. The ability to hear is an important determinant of speech and language development. I do not see an obvious hearing aid and although slow to respond he did eventually acknowledge his mother. He appears older than 2 years of age so I would expect him to be able to use two- to three-word sentences. He may know his name and potentially some colours. May I ask his mother if he is able to do this?’

The examiners will either allow you to do this or they won’t. If they do you will gain valuable information and it gives you a point to move on from. If the examiner is not keen for you to gain this information then you will need to interact with Matthew. It may be you find another train to bring alongside Matthew’s, find some pens and crayons and start drawing in bold colours or maybe play a musical instrument. At some point Matthew, even if he doesn’t speak, should show interest in your activities. To spend the entire station transfixed by one item would be abnormal behaviour for a school-age child. In fact if you removed the train from Matthew (with mother’s permission) he would become extremely distressed.

This child may have autism. In a 5-minute session it is impossible to make a diagnosis of autism as this diagnosis requires good history-taking to assess for abnormalities in the areas of behaviour, language and social communication. In the development station certain key things may give one clues:

• Unusual ways of playing with toys and other objects, such as only lining them up a certain way.

• Lack of imagination in play.

• Repetitive body movements or patterns of behaviour, such as hand- flapping, spinning and head-banging.

• Hyperactive behaviour.

• Unusual use of pronouns, echolalia.

In the differential diagnosis of autism one should make attempts to ascertain whether the child can hear, e.g. making an obvious noise and assessing the response and observing how the child plays alone, with their mother and with the candidate.

Do not worry if you cannot fully engage with the child, as long as you demonstrate what you are trying to do. In an examination setting these are often difficult to elicit as the child will not be relaxed. The examiners are aware of this.

COMMENTS ON STATION 7

The following is an example of how to approach the situation:

1. Introduce yourself and explain that you have asked the named nurse also to attend and have made efforts not to be disturbed, e.g. cannot be bleeped.

2. Understanding of parents’ awareness of situation.

3. Explain and apologise for the error.

4. Risk management to deal with error, i.e. notification of the critical incident (and that you will complete the form) and if they wish to take the matter further to involve the patient advisory liaison service.

5. Management regarding effects of medication: blood tests, side effects.

6. Answer any questions and, if they have further questions, you will address them.

These scenarios may have the added difficulty of the parent being irate – a reflection of what actually happens in clinical practice. Do not be put off by this approach. As long as you are calm, polite and actively listen you will be rewarded a good mark.

Methotrexate’s potentially toxic effects are related to its interaction with the folic acid pathway. Side effects may be dose dependent or independent:

Important blood tests include full blood count, liver function tests, urea and electrolytes and monitoring.

COMMENTS ON STATION 8

This is a potentially challenging station as, although the subject matter is not difficult to explain, the issue will be clouded by the mistake made. By now you should see that there is a very familiar pattern in the approach to answering the communication station. Once again:

• Introduce yourself with name and grade.

• Ensure you tell the mother you will not be disturbed.

• Ensure you ask if there is anyone else she would like to be present.

• Apologise for the error; be humble and explain the issue will be brought up in the next departmental meeting to stop things like this happening again.

• Ask the mother if she understands why she was brought back for bloods.

• Ask the mother if she has any understanding of the term hypothyroidism (any elderly relative might well be on thyroxine).

• Explain in general terms what the thyroid gland does.

• Explain the need for lifelong thyroxine and the reasons for this.

• Ask if she has any questions.

The above, even without any interruptions, should take you through to time easily. Remember that you do not have to complete all the tasks to pass the station. You will be assessed on what you say and how you say it. As long as you are not rambling you will only be penalised for irrelevancies. Do not get stuck on issues such as repeating bloods or the potential of thyroid transplant.

Do listen to the mother. She may be very angry with the initial misdiagnosis or she may be angry because she is scared (e.g. she may have related her mother’s early death to her hypothyroidism; will her child die early?). Show off some of your knowledge while talking:

‘Although your child may look perfectly well without treatment, we can predict that in weeks or months his skin may become dry, feeding more difficult and his muscles more floppy. We know that without regular thyroxine his growth will be poor and his intellectual development slower than normal.’

The key features of congenital hypothyroidism are worth knowing:

Treatment is with levothyroxine. Initially the child may be very responsive to thyroxine, so advise the mother that it may take some time to settle on a regular dose. It is important to emphasise the need to take regular thyroxine. You can imagine it is difficult to understand why you have to keep giving regular medication to a completely well child! Emphasising the risks of intellectual impairment (avoid the term retardation) is useful in this regard.

COMMENTS ON STATION 9

This is a very common problem – one you may already be familiar with. In this station you are expected to take a directed history and then discuss the management with the examiner.

The following is an example of an answer:

• Presenting complaint: how often bowels are opened; frequency of soiling; stool description; pain on defecation; abdominal pain/distension.

• Rule out organic causes: hypothyroidism or surgical, e.g. Hirschsprung’s disease.

• Risk factors: diet (fibre and fluid intake).

• Birth history: meconium passed in first 24 hours; feeding and weaning.

• Past medical history/family history – clues to organic causes.

• Drug history – previous treatments of other medication impacting on constipation.

• Social history: family/nursery response to behaviour; strategies in toileting.

In feeding back to the examiner you may be asked to describe what you would write in your letter to the GP. It is essential not only to accumulate the information obtained in the history session but also to formulate the management plan. An important part of managing constipation is to explain to families that it is common; encourage behavioural, diet and medication strategies, and explain that there is no overnight solution.

Beware that in the history-taking you may uncover information that you may not relate directly to the presenting complaint. For example, one author found that in a history station a patient’s father had recently been diagnosed with terminal colon cancer.

MANAGEMENT STRATEGIES

The three main strategies are:

• Empty the colon of stool.

• Establish regular soft and painless bowel movements.

• Maintain very regular bowel habits.

Conservative/behavioural methods	High-fibre diet
	Increase fluid intake
	Healthy diet (low sugar)
	Star charts/reward system
	Making the toilet a ‘friendly place’
	Encourage regular routine involving sitting on
	the toilet for a period of time
Osmotic laxatives (soften stool)	Lactulose
	Polyethylene glycol
Stimulant laxatives (encourage	Senna
motility)	Picosulfate
	Docusate sodium
Enema	Empty bowel – by pushing fluid into rectum,
	softening stool and creating pressure in
	rectum to release stool
Suppositories	Glycerine – stimulating rectum to release stool