Final Paeds II

Question 1

Describe the difference in encephalitis formed by measles encephalitis [2]

Answer 1

Encephalitis:
Acute form occurs after 1 week:
- 15% mortalitly, 25% sequelae

Subacute sclerosing panencephalitis (SSPE): after about 5 years:
- slowly progressive neurological decline, fatal

Question 2

What are the complications of rubella infection? [2]

Answer 2

Complications are rare but include thrombocytopenia and encephalitis.

.

Question 3

A child is dx with rubella.

What advise should you give them about attending school? [1]

Answer 3

Children should stay off school for at least 5 days after the rash appears.

Children should avoid pregnant women.

Question 4

What are the three ddx for fever with vesicles? [3]

Answer 4

HSV
VZV
Hand, Foot and Mouth (cocksackie)

Question 5

Describe the presentation of chickenpox infection [2]
- Include where the rash starts and timecourse [1]

Answer 5

Chickenpox is characterised by widespread, erythematous, raised, vesicular (fluid filled), blistering lesions.
- The rash usually starts on the trunk or face and spreads outwards affecting the whole body over 2 – 5 days. Eventually the lesions scab over, at which point they stop being contagious.

Other symptoms:
* Fever is often the first symptom
* Itch
* General fatigue and malaise

Question 6

Describe a key skin complication of VZV infection [1]

What would be key symptoms that would make you suspect this manifestation? [1]

Answer 6

Bacterial infection (most commonly Strep. pyogenes) infections of lesions:
- Can cause cellulitis or even necrotising fasciitis

Would present as: Fever (from initial infection), gets better, then develops second wave of fever

Question 7

Describe a CNS complication of VZV infection [1]

Describe a resp. complication of VZV infection [1]

Answer 7

Encephalitis - presents with dramatic cerebella ataxia

Pneumonia - presents with calcifications on CXR

Question 8

A child w/ immunosuppresion becomes exposed to VZV.

How would you manage this patient? [1]

How would you treat them if they became infected? [1]

Answer 8

Prophylaxis zoster immunoglobulin (ZIG)

If infected: IV acylovir

Question 9

Define what is meant by precocious puberty in boys and girls [2]

What are the two types? [2]

Answer 9

Precocious puberty is characterised by the onset of secondary sexual characteristics before the age of 8 in girls and 9 in boys

central precocious puberty (CPP):
- resulting from premature activation of the hypothalamic-pituitary-gonadal axis

peripheral precocious puberty (PPP):
- due to excessive sex steroids independent of gonadotropin secretion.

Question 10

Tx for CPP and PPP? [2]

Answer 10

GnRH analogues are first-line treatment for CPP while PPP requires targeted therapy depending on underlying cause.

Question 11

What is the medical managment of Tet spells? [4]

Answer 11

• Oxygen
• IV morphine (decreases respiratory drive and pulmonary vascular resistance)
• IV fluids (increases circulating volume)
• IV beta blockers (e.g., propranolol)
• Phenylephrine infusion (increases systemic vascular resistance)

Question 12

Developed cardiomyopathies:
- which causes are more likely to be earlier postnatal [1] or later postnatal [1]

Answer 12

Severe CoA: earlier on: major abnormality needed to cause v high demands on heart

VSD: later on - e.g. 1month, because strain on heart arises from overload (which takes time to develop)

Question 13

You suspect a patient has congenital aortic stenosis.

How would this patient present?

Answer 13

Aortic stenosis causes an ejection systolic murmur heard loudest in the aortic area, in the second intercostal space, right sternal border. It has a crescendo-decrescendo character and radiates to the carotids.

Other signs that may be present on examination are:
* Ejection click just before the murmur
* Palpable thrill during systole
* Slow-rising pulse and narrow pulse pressure

Symptoms include:
* Fatigue
* Shortness of breath
* Dizziness
* Fainting

Question 14

Ebstein’s anomaly is often associated with an [3xcardiac conditions].

Answer 14

Ebstein’s anomaly is often associated with an atrial septal defect with a right-to-left shunt. Blood flow from the right atrium to the left atrium allows blood to bypass the lungs, leading to cyanosis.

It is also often associated with Wolff-Parkinson-White syndrome and supraventricular tachycardia.

Question 15

You suspect a patient has congenital pulmonary stenosis.

What are the significant signs [5] and symptoms [6] you might see if this patient had this?

Answer 15

Pulmonary stenosis is often asymptomatic.
More significant pulmonary valve stenosis can present with:
* Fatigue on exertion
* Shortness of breath
* Dizziness
* Syncope (fainting)

Signs on examination may include:
* Ejection systolic murmur heard loudest at the pulmonary area (second intercostal space, left sternal border)
* Palpable thrill in the pulmonary area
* Right ventricular heave (due to right ventricular hypertrophy)
* Raised JVP with giant a waves
* Widely split second heart sound

Question 16

What would the signs and examination findings be of Eisenmenger syndrome?

Answer 16

Signs of pulmonary hypertension:
* Right ventricular heave (the right ventricle contracts forcefully against increased pressure in the lungs)
* Loud P2 (forceful shutting of the pulmonary valve)
* Raised JVP
* Peripheral oedema

Murmurs related to the underlying septal defect:
Atrial septal defect:
- Mid-systolic, crescendo-decrescendo murmur loudest at the upper left sternal border

Ventricular septal defect:
- Pan-systolic murmur loudest at the left lower sternal border

Patent ductus arteriosus:
- Continuous crescendo-decrescendo “machinery” murmur

Findings related to the right-to-left shunt and chronic hypoxia:
* Cyanosis
* Finger clubbing
* Dyspnoea (shortness of breath)
* Plethoric complexion (reddish skin related to polycythaemia)

Question 17

[1] is the only definitive treatment once Eisenmenger syndrome develops.

Answer 17

A heart-lung transplant is the only definitive treatment once Eisenmenger syndrome develops.

Question 18

When do you check CRP for ongoing neonate sepsis management? [3]

Answer 18

Initial treatment:
* Check CRP at 24hrs
* Check blood culture results at 36 hours
* Consider stopping the abx if baby is clinically well and blood cultures are negative 36hrs after taking AND both CRPs are < 10.

Check CRP again at 5 days if still on tx:
- Consider stopping antibiotics if the baby is clinically well, the lumbar puncture and blood cultures are negative and the CRP has returned to normal at 5 days.

Question 19

Why does jaundice occur in premature babies? [1]

This increases the risk of complications, particularly [1].

Explain this complication [1] and how it presents [2]

Answer 19

In premature babies, the process of physiological jaundice is exaggerated due to the immature liver. This increases the risk of complications, particularly kernicterus.

Kernicterus is brain damage due to high bilirubin levels. Bilirubin levels need to be carefully monitored in premature babies, as they may require treatment.
- Bilirubin can cross the BBB and in XS can damage the CNS
- The damage to the nervous system is permeant, causing cerebral palsy, learning disability and deafness. Kernicterus is now rare due to effective treatment of jaundice.

Question 20

What is involved in a prolonged jaundice screen? [+]

Answer 20

conjugated and unconjugated bilirubin:
- the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention

direct antiglobulin test (Coombs’ test)
- for haemolysis

TFTs:
- for hypothyroid

FBC and blood film

• polycythaemia or anaemia

urine for MC&S and reducing sugars
- suspected sepsis

Glucose-6-phosphate-dehydrogenase (G6PD) levels
- for G6PD deficiency

Question 21

Describe the management of neonatal jaundice [2]

Answer 21

In jaundiced neonates, total bilirubin levels are monitored and plotted on treatment threshold charts. These charts are specific for the gestational age of the baby at birth. The age of the baby is plotted on the x-axis and the total bilirubin level on the y-axis. If the total bilirubin reaches the threshold on the chart, they need to be commenced on treatment to lower their bilirubin level.

Phototherapy is usually adequate to correct neonatal jaundice.
- If within 50umol of exchange line then use double phototherapy

Extremely high levels may require an exchange transfusion. Exchange transfusions involve removing blood from the neonate and replacing it with donor blood.

Question 22

Describe the presentation of acute bilirubin encephalopathy
and chronic encephalopathy (what are the two types?)

Answer 22

Acute encephalopathy;
- Lethargy
- Decreased feeding
- Tone abnormalities
- High pitched crying
- Torticollis
- Opisthotons
- Seizures

Chronic:
Kernicterus:
- Movement disorders
- Auditory dysfunction
- Oculomotor impairment
- Dental dysplasia

Bilirubin induced neurological dysfunction (BIND):
- More subtle neurological impact on vision, hearing and cognitinve behaviourhal impairments

Question 23

What are causes of neonatal jaundice < 24hrs? [3]

Answer 23

Haemolytic disease of the newborn

Infection - TORCH or sepsis
- Start Abx within 24hrs of birth

G6DP deficiency

Question 24

How do you test for haemolytic disease of the newborn? [1]
Explain this test [1]

How do you treat DAT+ve babies [2]

Answer 24

Direct antiglobulin test (DAT)
- Get babys blood and mix with reagant with anti IgG antibodies. If babies blood cells are covered in maternal IgG then will clump

DAT +ve babies:
- Give folic acid supplementation for 6-8 weeks
- Follow up appointment to monitor for haemolytic anaemia

Question 25

Describe how you measure bilirubin levels [2] How do you interpret them? [+] *Include when tx*

Answer 25

**TCB - Transcutaneous bilirubinometer:** - > 35 weeks gestation - > 24 hrs old **Serum bilirubin** **Interpretation**: - Plot total bilirubin - If crosses phototherapy line, then tx - If rises by > 8.5 / hr then treat - Can stop treatment if 5 boxes below phototherapy threshold - Check guideline

Question 26

A neonate presents with jaundice. Which first line investigations would you perform? [3] Which further ones might you consider? [2]

Answer 26

**First line:** * Total bilirubin * FBC * Group and DAT **Consider**: - CRP and blood cultures - Blood film and G6PD testing

Question 27

If a baby is not losing weight and you don't suspect serious pathology causing GOR, what advise can you give parents to help? [4]

Answer 27

advise regarding position during feeds - **30 degree head-up** **ensure infant is not being overfed** (as per their weight) and **consider a trial of smaller and more frequent feeds** a **trial of thickened formula** (for example, containing rice starch, cornstarch, locust bean gum or carob bean gum) **a trial of alginate therapy** e.g. Gaviscon. Alginates should not be used at the same time as thickening agents

Question 28

**TOMTIP**: **[]** is the main preventative medication to remember for **abdominal migraine**. How do you instruct how to manage this medication? [1]

Answer 28

**Pizotifen** is the main preventative medication to remember for abdominal migraine. It needs to be **withdrawn slowly when stopping as it is associated with withdrawal symptoms such as depression, anxiety, poor sleep and tremor.**

Question 29

Describe what is meant by an oesophageal atresia (OA) [1] Which is the most common type? [1]

Answer 29

**Oesophageal atresia (OA) and tracheo-oesophageal fistula (TOF)** are **congenital malformations** that result from the **defective separation** of the common embryologic precursos to both the **oesophagus and trachea**. The most common type is a **blind-ending upper oesophageal pouch with a fistulous connection between the distal oesophageal segment and the trachea.**

Question 30

Dx of OA? [3]

Answer 30

BMJ BP **One -** **US**: A part of routine **antenatal screening** or in cases of suspected chromosomal anomaly or familial syndrome. **If evidence of polyhydramnios, fetal MRI is also recommended.** - Result: **polyhydramnios and a small or no stomach bubble** **Two - Fetal MRI** can assist in confirming the diagnosis and determining other congenital anomalies. - **oesophageal pouch and small stomach** **Three** - **CXR & AXR** - Evidence of **respiratory distress or poor handling of secretions, or an inability to pass a nasogastric tube warrants an x-ray**. An x-ray of the chest and abdomen with a nasogastrc tube in place should also be obtained immediately after birth in patients who are suspected to have an oesphageal atresia/tracheo-oesophageal fistula on antenatal ultrasound

Question 31

How does midgut malrotation present? [3]

Answer 31

**Malrotation: Presentation:** * **Acute strangulating obstruction**: Shocked, bilious vomiting, tender, dark blood PR * **Recurrent episodes of subacute obstruction**: bile-stained vomiting, forewarning of volvulus * **Intermittent vomiting, occasionally bile stained**, intermittent abdominal pain and malabsorption

Question 32

How is midgut dx [1] and malrotation mx ? [2]

Answer 32

**1st line: upper gastrointestinal contrast series** - Diagnostic standard test for malrotation - DJ flexion to the right - right-sided duodenum (malrotation); duodenum courses inferior or medial to normal (malrotation); bird-beak cut-off of duodenum (volvulus); corkscrew of duodenum (volvulus); a web in the duodenum (duodenal atresia) **Management**: * **urgent / emergency surgery** (if ischaemic or not): **open laparotomy and Ladd's procedure** * **Nasogastric tube, antibiotic coverage for gram-negative organisms (e.g., cefoxitin), and aggressive intravenous fluid resuscitation** should be performed en route to the theatre

Question 33

What are the different classifications of cerebral palsy? [4] Describe their features [4] Where do each of the above have damage that causes them? [4]

Answer 33

**Classification** **Spastic**: - **hypertonia** (increased tone) and **reduced function r**esulting from **damage to upper motor neurones** **Dyskinetic**: - problems **controlling muscle tone**, with **hypertonia and hypotonia**, causing **athetoid movements** and **oro-motor problems**. - This is the result of damage to the **basal ganglia.** **Ataxic**: - problems with **coordinated movement** resulting from **damage to the cerebellum** **Mixed**: - a mix of spastic, dyskinetic and/or ataxic features

Question 34

Mx for CP: **Paediatricians** will regularly see the child to optimise their medications. This may involve: [3]

Answer 34

**Muscle relaxants** (e.g. **baclofen**) for muscle spasticity and contractures **Anti-epileptic** drugs for seizures **Glycopyrronium bromide** for excessive drooling

Question 35

What is a key risk of VP shunt placement? [1]

Answer 35

**Intraventricular haemorrhage** during shunt related surgery

Question 36

What is the pathophysiology of DMD and BMD? [2]

Answer 36

**Becker muscular dystrophy (BMD)**: - **X-linked recessive disorder** resulting from **mutations in the DMD gene**, which encodes for the protein **dystrophin** used in **muscle fibre stability.** - **non-frameshift insertion** in the **dystrophin gene** resulting in both binding sites being preserved leading to a milder form **Duchenne muscular dystrophy**: - Due to mutation in the gene encoding **dystrophin** - **frameshift mutation** resulting in one or both of the binding sites are lost leading to a **severe form**

Question 37

Describe the mx of BMD [1]

Answer 37

**Corticosteroids**: - **Prednisolone or Deflazacort** are the first-line therapy to delay muscle weakness. Monitor for side effects including weight gain, osteoporosis and behavioural changes.

Question 38

Myotonic dystrophy is a genetic disorder that usually presents in adulthood. Typical features are [4]

Answer 38

**Progressive muscle weakness** **Prolonged muscle contractions** **Cataracts** **Cardiac arrhythmias** **TOM TIP:** The key feature of myotonic dystrophy to remember is the **prolonged muscle contraction**. This may present in **exams** with a **patient that is unable to let go after shaking someones hand, or unable to release their grip on a doorknob after opening a door**. When doing an upper limb neurological examination always shake the patients hand and observe for difficulty releasing their grip.

Question 39

Describe the muscular manifestations of myotonic dystrophy [3+]

Answer 39

**Myotonia** * The hallmark feature of DM is **delayed muscle relaxation following voluntary contraction or percussion, termed myotonia.** * Myotonia can be generalized or focal, affecting the hands, tongue, facial muscles, or lower limbs. **Muscle Weakness** * Both DM1 and DM2 present with **progressive muscular weakness;** however, the distribution and severity may vary between subtypes. * **Distal Limb Weakness (DM1):** In DM1 patients, distal limb weakness predominantly affects the flexor muscles of the fingers, wrists, and ankles. In advanced stages, proximal limb muscles may also be involved. * **Proximal Limb Weakness (DM2):** Patients with DM2 typically exhibit proximal limb weakness affecting hip girdle muscles more than shoulder girdle muscles. The weakness pattern in DM2 often resembles that of limb-girdle muscular dystrophy. **Facial & Bulbar Weakness** * Facial muscle involvement in both subtypes may manifest as **ptosis, facial diplegia, dysarthria, dysphagia or nasal regurgitation due to palatal insufficiency**.

Question 40

The treatment of MD is a MDT approach. In terms of pharmacotherapy, **[]** can be used for **myotonia**, but its use should be guided by a neurologist. **Steroids are not recommended due to potential worsening of myotonia.**

Answer 40

In terms of pharmacotherapy, **Mexiletine** can be used for myotonia, but its use should be guided by a neurologist. Steroids are not recommended due to potential worsening of myotonia.

Question 41

What is meant by spinal muscular atrophy? [1] How do patients typically present? [4]

Answer 41

**Spinal muscular atrophy (SMA)** is a rare **autosomal recessive condition** that causes a **progressive loss of motor neurones**, leading to **progressive muscular weakness.** - Spinal muscular atrophy **affects the lower motor neurones in the spinal cord**. - This means there will be **lower motor neurone signs**: such as **fasciculations, reduced muscle bulk, reduced tone, reduced power and reduced or absent reflexes.**

Question 42

There are four categories of spinal muscular atrophy that are numbered from most to least severe. Describe the difference between them [4] SMA type **[]** is the most common type.

Answer 42

There are four categories of spinal muscular atrophy that are numbered from most to least severe. **SMA type 2 is the most common type.** **SMA type 1** has an onset in the **first few months of life**, usually progressing to **death within 2 years.** **SMA type 2** has an **onset within the first 18 months**. Most **never walk, but survive into adulthood.** **SMA type 3** has an **onset after the first year of life**. Most **walk without support**, but subsequently **loose that ability**. Respiratory muscles are less affected and life expectancy is close to normal. **SMA type 4** has an onset in the 20s. **Most will retain the ability to walk short distances** but **require a wheelchair for mobility**. Everyday tasks can lead to **significant fatigue.** Respiratory muscles and life expectancy are not affected.

Question 43

Describe the respiratory support that children with SMA type 1 may need [2]

Answer 43

Respiratory support with **non-invasive ventilation** may be required to **prevent hypoventilation and respiratory failure**, particularly during sleep. Children with **SMA type 1 may require a tracheostomy with mechanical ventilation**, which can dramatically extend life by supporting failing respiratory muscles.

Question 44

What is the gold standard investigation for dx allergy? [1]

Answer 44

**Food challenge testing** is the gold standard investigation for diagnosing allergy, however it requires a lot of time and resources and is only available in selected places.

Question 45

Describe when and how many samples of mast cell tryptase you should take [+]

Answer 45

Mast cell tryptase is one of the major proteins released during activation and degranulation **Immediate sample**: taken as soon as possible after onset. Should NOT delay treatment **Second sample:** taken at 1-2 hours after onset. Should be no later than 4 hours. Minimum required sample **Third sample:**taken at least 24 hours after onset. Often taken at follow-up allergy clinic. Acts as the baseline level

Question 46

Describe the treatment protocol in emergency anaphylaxis [4] ## Footnote NB in adults

Answer 46

ABCDE **1**. **IM adrenaline 1mg/ml (1:1000) in anterolateral aspect middle of thigh** **2.** **Establish airway & give high flow O2** **3**. **If no response - repeat IM adrenaline after 5 minutes** & **IV fluid bolus** **4. If no improvement after 2 doses of adrenaline - follow refractory algorithm**

Question 47

**[]** deficiency is the most common complement deficiency.

Answer 47

**C2 deficiency** is the most common complement deficiency.

Question 48

Describe what is meant by C1 Esterase Inhibitor Deficiency (Hereditary Angioedema) [3]

Answer 48

**Bradykinin** is part of the **inflammatory response** - It is **responsible for promoting blood vessel dilatation** and **increased vascular permeability, leading to angioedema** - Part of the **action of C1 esterase** is to **inhibit bradykinin.** - An **absence of C1 esterase causes intermittent angioedema** in response to **minor triggers**, such as viral **infections or stress,** or without any clear trigger at all. **Angioedema** often affects the **lips** or **face** but can occur anywhere on the body, including the **respiratory and gastrointestinal tract.** - The swelling can last several few days before self resolving. Angioedema can occur in the larynx and compromise the patients airway.

Question 49

**TOM TIP:** A key test for hereditary angioedema (C1 esterase inhibitor deficiency) is to check the levels of **[]** **[]** levels will be **high/low** in the condition. The exam question describe a patient with episodes of unexplained lip swelling and ask what test to perform. The answer is [] levels.

Answer 49

TOM TIP: A key test for hereditary angioedema (C1 esterase inhibitor deficiency) is to check the levels of **C4 (compliment 4).** **C4 levels** will be **low** in the **condition**. The exam question describe a patient with episodes of unexplained lip swelling and ask what test to perform. The answer is C4 levels.

Question 50

How do you treat HAE? [2]

Answer 50

**IV C1-inhibitor concentrate** **fresh frozen plasma (FFP) if this is not available** ## Footnote NB: HAE does not respond to adrenaline, antihistamines, or glucocorticoids