Investigations:
CXR	Often normal but may see a prominent pulmonary artery or decreased pulmonary vascular markings in more severe disease
ECG	Normal if mild. If moderate to severe – right axis deviation and right ventricular hypertrophy In Noonan’s you get a superior axis
ECHO	A gradient of > 40 mmHg would indicate a need for surgery or the right ventricular pressure is > 60 mmHg
Management:
Multidisciplinary	Cardiologist, local paediatrician – local and tertiary referral centre
Conservative/medical	Adequate nutrition and growth May only need clinical review and no need for surgery if mild May need diuretics if associated significant shunts Need alprostadil (PGE1) in the presence of cyanotic congenital heart disease during the neonatal period Prophylaxis during surgical procedures
Surgical	Cardiac catheterisation Balloon valvuloplasty is the corrective treatment of choice
Associated conditions include:	Noonan’s syndrome Tetralogy of Fallot

• Genitourinary anomalies

• Joint laxity

• Seizures

• Sensorineural hearing loss

• Bleeding disorders.

Investigations into the various associated conditions are required, e.g. cardiac work-up, renal ultrasound, audiometry and development. This should all be managed with a multidisciplinary team involving:

• Hospital professionals (paediatrician, cardiologist, ophthalmologist, neurologist, physiotherapist, occupational therapist, geneticist);

• Community professionals (paediatrician, GP, health visitor, community nurses).

Tetralogy of Fallot

Definition

1. VSD

2. Right ventricular hypertrophy

3. Right ventricular outlet obstruction

4. Overriding aorta

This is an example of a cyanotic cardiac lesion. If the right ventricular outlet obstruction is mild these babies are often referred to as ‘pink Fallots’ as they have saturations in the normal range
It represents approximately 8-10% of cardiac lesions in the UK

Symptoms

• ‘Blue’ baby

• Failure to thrive

• Dyspnoea on exertion

• Cyanotic spells

Signs

• Cyanosis

• Clubbing

• Right ventricular heave

• Systolic murmur/thrill, left lower sternal border

• Single S2

• May have an aortic click

Risk factors/conditions Fetal alcohol syndrome Maternal PKU
Maternal antiepileptic use (e.g. carbamazepine) Di George’s syndrome CXR ‘Boot-shaped’ heart – uplifting of apex secondary to right ventricular hypertrophy Normal heart size
Decreased pulmonary vascular markings ECG Right atrial hypertrophy Right ventricular hypertrophy Right axis deviation Acute management If presenting with a cyanotic spell:

• Knee-chest position (baby) or encourage squatting

• Morphine

These actions reduce venous return and increase systemic vascular resistance. Right to left shunting (via increase in left-sided pressure) is reduced, improving pulmonary blood flow Long-term
management – medical Multidisciplinary team Endocarditis prophylaxis Keep haematocrit < 60% Surgery Palliative surgery, e.g. Blalock-Taussig shunt Total surgical correction

COMMENTS ON STATION 2

DIAGNOSIS: HUNTER’S SYNDROME

‘On examining Josh I note an appearance suggestive of a mucopolysaccharide storage disorder, as evidenced by his facies, short stature, bilateral hearing aids, thoracolumbar kyphosis and hepatosplenomegaly, and a scar suggestive of a left inguinal hernia operation. The most likely diagnosis is Hunter’s syndrome as I saw no evidence of corneal clouding.’

The mucopolysaccharidoses (MPS) are a group of inherited disorders due to defects in glycosaminoglycan metabolism and are lysosomal disorders. Be familiar with the features of these disorders as these young people are often available for examinations.

The inability to degrade certain macromolecules results in their storage in a large variety of tissues, e.g. liver, spleen, heart and connective tissue. The precise clinical features of each MPS depend upon the specific enzymatic deficiency and the pattern of storage of the particular MPS. In addition to somatic features, which may be severe, significant learning difficulties occur in some groups of MPS. Diagnosis for all MPS may be made initially by measuring glycosaminoglycans in the urine and then enzymatic assay of white cells or cultured fibroblasts.

To date nine different types of MPS have been described. The main four are:

3. MPS III – Sanfilippo (severe neurological problems)

4. MPS IV – Morquio (usually normal intelligence).

The following summary of Hunter’s and Hurler’s is provided for the purist who is keen to know the difference and is confident of remembering the difference in the exam. It may be better for some candidates to be happy they know how to recognise children with MPS rather than get flustered on which one has corneal clouding.

• Hunter’s: no corneal clouding (a hunter needs to see his prey)

• Hurler’s: corneal clouding (a hurler doesn’t!)

HUNTER’S SYNDROME

Hunter’s syndrome is an X-linked recessive disorder caused by lack of the enzyme iduronate sulfatase. Onset of the disease is usually during the toddler years. Features include:

• Coarse facial features

• Skeletal irregularities: thoracolumbar kyphosis, scoliosis, short stature, joint stiffness, hernias, claw hand, thick skull

• Respiratory: obstructive airway

• Neurological: communicating hydrocephalus, macrocephaly, progressive hearing loss

• Ophthalmological: retinal degeneration (but no corneal clouding), retinitis pigmentosa

• Abdominal: hepatosplenomegaly

• Dermatological: white skin lesions may be found distributed symmetrically between the angles of the scapulae and posterior axillary lines, hypertrichosis, large tongue and thick lips

• Cardiac: valvular lesions

• Neurological: development regression, carpal tunnel syndrome.

There is no medical cure for the disease, although gene therapy may be a treatment of the future. Management involves a multidisciplinary team and treatment of symptoms, e.g. carpal tunnel surgery and genetic counselling.

HURLER’S SYNDROME

This is an autosomal recessive condition arising due to insufficient or absent levels of the enzyme a-L-iduronidase.

Features of this disorder are very similar to Hunter’s syndrome – in facial features, organ enlargement and skeletal and developmental features. Differences include:

• Corneal clouding

• Language skills are poorer – secondary to hearing difficulties, large tongue and impaired vision

• Poor prognosis with cardiorespiratory problems making survival into the second decade unlikely.

Diagnosis (for Hunter’s as well) is via increased levels of the glycosaminoglycans heptan and dermatan sulfate in urine. There is also no cure for this disorder. Management within a multidisciplinary team is essential. There is a body of evidence that bone marrow transplants may change the disease process in Hurler’s syndrome. Short cases and history-taking stations should focus on the multidisciplinary team approach unless you have detailed personal knowledge of novel treatments.

CAN YOU …

Describe Tanner’s scale for pubertal assessment?

Obviously you are not out to embarrass any teenage participant in the exam but a good working knowledge may be useful, especially in the history and management planning station.

Female breast	Male genital	Pubic hair
1. Pre-pubertal	Pre-pubertal	Nil
2. Breast bud 8–13 years	Growth and texture change 10–13.5 years	Sparse and straight F: 8–14 years M: 10–15 years
3. Juvenile smooth contour	Length and girth growth	Coarser and curlier
4. Areola projects above breast	Darkening of scrotal skin	Adult type
5. Adult 12.5-18.5 years	Adult 14.5-18 years	Adult distribution F: 12.5-16.5 M: 14.5-18

Although not in the original definition, the appearance of axillary hair usually occurs in mid-puberty, approximately 2 years after the development of pubic hair.

COMMENTS ON STATION 8

DIAGNOSIS: LEFT HEMIPLEGIA WITH VENTRICULOPERITONEAL SHUNT

If while running through the station you forgot to check or ask to check the head circumference, you will struggle to pass – no matter how good your summary of events. Be warned!

‘On examination I note evidence of a ventriculoperitoneal shunt and left hemiplegia as evidenced by paucity of movement on that side, with increased tone and brisk reflexes. Examples of causes would include previous periventricular, subarachnoid or subdural haemorrhage, congenital abnormality or previous meningitis. I would like to measure the child’s head circumference and plot it on the child’s growth chart.’

Observation is an essential part of the examination and will give a clue to the aetiological causes of the hemiparesis. Always inspect the back during the neurology examination as it is easy to miss spinal abnormalities that may accompany hydrocephalus, e.g. spina bifida. Other important comments:

• Sutures: open or closed?

• Head shape: is it symmetrical?

• Hearing: observed to startle to sounds?

• Fundoscopy: papilloedema? Difficult in the young infant but you must comment on the red reflex.

Important investigations would be cranial imaging (MRI and CT), but as the child already has a shunt it would be prudent to offer to take a thorough past medical history. This will force the examiner to either give you some vital clue (prematurity!) or change tack. For example, you may be asked in what situation you would rescan a child with a shunt. In this way you can score very good marks without ever coming to a definite diagnosis.

In performing a neurological examination in this age group it is essential to assess both central and peripheral tone. Initial impressions may be gathered by handling the baby and, if not already done, by undressing the child. To formally assess central tone, test for:

• Head lag: expect evidence of control from 6 weeks (pull the supine infant with both arms into the sitting position).

• Sitting position: assess ability to sit unsupported and stability in this position, which reflects truncal tone.

• Standing position: assess tone with support and, if able, without support.

• Ventral suspension: floppy or stiff? Are the arms and legs appropriately flexed?

With practice these movements can be performed one after the other by pulling up to sit, then stand and finally positioning ventrally. This looks very professional and is worth practising.

Peripheral tone is assessed in a similar manner to that in the older child. Assess whether floppy or reduced and to contrast look for evidence of spasticity and clonus. The scissoring of lower limbs when held upright is an indicator of increased tone.

Management involves a multidisciplinary approach:

Neurosurgical	Shunt management – revisions Risk of shunt infections
Neurological	Increased risk for seizures
Development	Paediatric assessment Physiotherapy Occupational therapy Social input and support groups GP
Coexisting pathology	E.g. cause of hydrocephalus might be post-ventricular haemorrhage secondary to extreme prematurity and so there may be other problems such as chronic lung disease

COMMENTS ON STATION 4

DIAGNOSIS: KARTAGENER’S SYNDROME

An essential trait for a good paediatrician is empathy and being able to establish a good rapport with the patient. In this case it is important to understand and respect this young girl’s modesty, but at the same time be able to ascertain the diagnosis. Being chatty during the examination may help gain her confidence, and will certainly calm your nerves. Although not formally examined this will be something the examiners will notice.

The examination findings are compatible with the diagnosis of bronchiectasis and the likely cause is Kartagener’s syndrome with dextrocardia. It is important to include location of the apex beat as part of the respiratory examination, and missing dextrocardia would mean failing this station. Routinely examining for tracheal position and apex position will give you an overall idea about mediastinal location. Having demonstrated dextrocardia, one would like to look for evidence of situs inversus, e.g. by location of the liver. Although these stations seem to be the stuff of exam legend, they definitely do crop up!

BRONCHIECTASIS

Bronchiectasis is a permanent irreversible destruction of airways as a result of obstruction and/or inflammation of the airway.

Symptoms	Chronic/productive cough > 3 months Haemoptysis
Signs	Clubbing Hyperexpanded chest Harrison sulci Crackles/wheeze (which do not improve after a good cough)
Investigation	CXR: not specific but may see ring, line and ‘tramline’ shadows CT: dilated bronchi seen Bronchoscopy Investigating aetiology, e.g. sweat test
Management (MDT) medical, nursing, psychological, social, school	Regular chest physiotherapy Antibiotics – acute exacerbations Those who have an element of reactive airway disease may respond to bronchodilators and steroids
Surgery	Pulmonary segmental resection Transplant

KARTAGENER’S SYNDROME

This syndrome is an autosomal recessive condition classically defined as a triad of:

1. bronchiectasis

2. chronic sinusitis

3. situs inversus.

It is an example of a primary ciliary dyskinesia. These patients present with chronic upper and lower respiratory tract symptoms which result from ineffective mucociliary clearance. In the case of males ciliary dysfunction results in immotile sperm. Nasal potential differences or the saccharin test (saccharin or another substance is placed in the nose, and the speed of transport into the nasopharynx is measured to calculate mucociliary clearance) may be useful in the diagnosis, as are nasal brushings and examination under the electron microscope.

Management of lower respiratory problems will be similar to that with bronchiectasis. Tympanostomy tubes reduce conductive hearing loss and recurrent infections and surgery can relieve sinus symptoms.

COMMENTS ON STATION S

DIAGNOSIS: INCONTINENTIA PIGMENT!

These findings are consistent with incontinentia pigmenti: an X-linked dominant disorder involving the skin, dentition and central nervous system. There is a wide spectrum in this disorder, with some only having skin lesions and others with significant learning difficulties.

You would go on to assess the central nervous system and inspect the mother’s skin. Details of the different skin manifestations during the age of the individual are shown below.

Stage of skin disease	Description
1 st	The first stage is the erythematous and vesicular stage. It may be present at birth or appear soon after and may last from a few weeks to a few months
2nd	This is the verrucous stage. There can be thick crusts or scabs with healing and areas of increased pigmentation. The extremities are involved almost exclusively. This stage typically lasts months, but rarely as long as a year
3rd	The third state is the hyperpigmented stage, in which the skin is darkened in a swirled pattern. It usually appears between 6 and 12 months of life. The heavy pigmentation tends to fade with age in most affected individuals
4th	This stage is the atrophic stage. These scars are often present before the hyperpigmentation has faded and are seen in adolescents and adults as pale, hairless patches or streaks. These are most easily seen when they are on the calf or in the scalp. Once most patients reach adulthood (late teens and beyond), the skin changes may have faded and may not be visible to the casual observer