Paeds VI

Question 1

Describe the connections the following shunts provide:
* Ductus venosus
* Foramen ovale
* Ductus arteriosus

Answer 1

ductus venosus
- connects the umbilical vein to the inferior vena cava, allowing blood to bypass the liver.

foramen ovale
- connects the right atrium with the left atrium, allowing blood to bypass the right ventricle and lungs.

ductus arteriosus
- connects the pulmonary artery with the aorta, allowing blood to bypass the lungs.

Question 2

When should you trial a PPI for an infant with GORD? [3]

Answer 2

PPI should be trialled in infants with GORD who do not respond to alginates/thickened feeds and who have
1. feeding difficulties
2. distressed behaviour
3. faltering growth

Question 3

Describe what happens to fetal circulation at birth

Answer 3

The first breaths after birth expand the alveoli, decreasing the pulmonary vascular resistance.

The decrease in pulmonary vascular resistance causes a fall in pressure in the right ventricle and atrium.

At this point, the left atrial pressure is greater than the right atrial pressure, which squashes the atrial septum, causing functional closure of the foramen ovale.

The foramen ovale is sealed shut within a few weeks, becoming the fossa ovalis.

Prostaglandins are required to keep the ductus arteriosus open.

Increased blood oxygenation causes a drop in circulating prostaglandins, causing the closure of the ductus arteriosus, which becomes the ligamentum arteriosum.

When blood stops circulating through the umbilical vein, the ductus venosus stops functioning.

The ductus venosus closes structurally a few days later and becomes the ligamentum venosum.

Question 4

Describe the pathophysiology of ASDs

Answer 4

Caracterised by an abnormal opening in the atrial septum, allowing blood flow between the left and right atria. This occurs because:

The presence of an atrial septal defect creates a communication between the left and right atria. Due to higher pressure in the left atrium compared to the right atrium, there is typically a left-to-right shunt. This shunting of oxygenated blood from the left atrium into the right atrium results in increased pulmonary blood flow

The augmented volume load on the right side of the heart leads to dilation of both the right atrium and ventricle

Over time, this volume overload can cause right ventricular hypertrophy due to increased workload.

The increased pulmonary blood flow also leads to elevated pulmonary artery pressures, which may contribute to pulmonary hypertension if prolonged.

Increased pulmonary circulation results enhanced venous return to the left side of the heart, potentially causing enlargement of the left atrium and ventricle as well.

However, since a significant portion of oxygenated blood recirculates through the lungs rather than being delivered systemically, systemic cardiac output may be reduced despite overall increased cardiac work.

Chronically elevated pulmonary pressures can lead to vascular changes within the lungs, including medial hypertrophy and intimal proliferation within small pulmonary arteries

NB: essentially it causes the blood to take extra trips to the lungs. Therefore is acynanotic (because the blood is oxygenated)

Question 5

What are the three types of ASD? [3]

Answer 5

Patent foramen ovale, where the foramen ovale fails to close (not strictly classified as an ASD)

Ostium secundum, where the septum secundum fails to fully close

Ostium primum, where the septum primum fails to fully close - doesn’t go all the way down (tends to lead to an atrioventricular septal defect)

Question 6

Describe the process of atrial septum development [+]

Answer 6

Septum primum develops downwards, in the process makes the ostium primum (first opening)
- This then fuses with endocardial cushion and develops fully

Then second opening develops (ostrium secundum) at the bottom of the septum primum

Then the septum secundum grows downwards, but has a hole called the foramen ovale. This makes a makeshift valve that allows R-> L atrium

During development, oxygenated blood enters the R atrium, which then passes into L atrium to skip the non-needed pulmonary circuit (after development this is deoxygenated)

At birth, the septum primum and secundum fuse shut and form atrial septum

Question 7

90% of ASD cases are due to the failure of which opening not close

Answer 7

The ostium secundum - the septum secundum doesn’t fuse with the septum primum

Question 8

Down’s syndrome patients are most likely to suffer from which type of ASD? [1]

Answer 8

Ostium primum

Question 9

Apart from DS patients, which other population group are likely to suffer from ASDs? [1]

Answer 9

Fetal alcohol syndrome

Question 10

Describe and explain the murmur heard in ASD [2]

Answer 10

Increased in blood volume in the pulmonary artery causes the pulmonary valve to have a delayed closure (relative to the aortic valve closure)
- splitting of S2 and systolic murmur

Question 11

Describe the presentation of a patient with an ASD [3]

Answer 11

Atrial septal defects cause a mid-systolic, crescendo-decrescendo murmur loudest at the upper left sternal border. There is a fixed split second heart sound.
- Splitting of the second heart sound is where you hear the closure of the aortic and pulmonary valves at slightly different times
- The pulmonary valve closes later than the aortic valve, causing a split second heart sound that does not vary with respiration.

Detected in antenatal scans or newborn exams

May be asymptomatic in childhood and present w dyspnoea, heart failure or stroke in adulthood

Question 12

ASD:

TOMTIP: There appears to be a link between [condition] and [type of ASD].

Answer 12

There appears to be a link between migraine with aura and patent foramen ovale.

However, there are no recommendations in the guidelines for testing or treating patients with migraines for a PFO. It is unclear whether testing or treating improves symptoms or outcomes.

Question 13

Management of atrial septal defect (ASD) requires a comprehensive approach that includes evaluation, decision-making and treatment. The following steps are generally followed:

[3+]

Answer 13

Evaluation
* Echocardiography: This is the primary diagnostic tool for ASD. It provides details about the size, location and number of defects, as well as right ventricular volume overload.
* Cardiac MRI or CT scan: These may be used for further assessment in cases where echocardiographic findings are inconclusive.
* Pulmonary function tests: These can help assess pulmonary hypertension.

Decision-Making
* The decision to close an ASD depends on several factors including the patient’s symptoms, size of the defect, presence of right ventricular enlargement, and evidence of significant left-to-right shunt or pulmonary hypertension.
* Percutaneous closure is preferred over surgical repair if anatomy permits due to its less invasive nature and comparable efficacy.

Treatment
* Percutaneous device closure: This is performed under fluoroscopic and echocardiographic guidance. Devices such as Amplatzer septal occluder or Gore Cardioform septal occluder are commonly used.
* Surgical repair: Indicated when percutaneous closure is not possible due to unfavourable anatomy or associated cardiac anomalies requiring surgery. Open heart surgery using cardiopulmonary bypass is typically performed with direct suture closure or patch placement.
* Medical management: In asymptomatic patients with small defects and no evidence of right ventricular volume overload or pulmonary hypertension, observation with periodic follow-up may be sufficient. Medical therapy may also be required for associated conditions such as arrhythmias or heart failure.

Question 14

A child is born with exomphalos.
- What is the treatment plan? [1]

A child is born with gastroschisis.
- What is the treatment plan? [1]

Answer 14

Exomphalos
- Gradial repair over 6-12 months

Gastroschisis
- requires urgent correction

Question 16

How are hypospadias managed? [2]

Answer 16

Hypospadias requires referral to a paediatric specialist urologist for ongoing management. It is important to warn parents not to circumcise the infant until a urologist indicates this is ok.
* Mild cases may not require any treatment
* Surgery is usually performed after 3 – 4 months of age (ZtF), or 12months (PM)
* Surgery aims to correct the position of the meatus and straighten the penis

Question 17

What are the presenting features of hypospadias [5]

Answer 17

Abnormal location of urethral meatus:
- The most characteristic feature is an ectopic urethral opening that can be found anywhere from the glans penis to the perineum.
- The severity ranges from glandular (meatus near normal position), penile shaft, penoscrotal to perineal hypospadias.

Penile curvature (chordee):
- Chordee refers to abnormal ventral curvature of the penis which can be mild or severe.
- It is generally more pronounced during erection and may interfere with sexual function in adulthood if left untreated.

Foreskin abnormalities:
- Incomplete foreskin development on the underside of the penis results in a dorsal hooded prepuce with lack of foreskin ventrally, giving a characteristic ‘hooded’ appearance.
- This may lead to misdiagnosis as circumcision in infancy.

Inguinal hernia and cryptorchidism:
- These conditions are often associated with proximal hypospadias due to common embryological origin.
- Cryptorchidism refers to undescended testes while inguinal hernia involves protrusion of abdominal contents into inguinal canal.

Dysfunctional voiding:
- Depending on severity and location of meatal displacement, individuals may experience abnormal urine stream direction or difficulty in voiding. Urinary symptoms may include spraying, dribbling or split stream

Question 18

Describe how you manage hydroceles:
- infantile hydroceles [1]
- adults [1]

Answer 18

Management
* infantile hydroceles are generally repaired if they do not resolve spontaneously by the age of 1-2 years
* in adults a conservative approach may be taken depending on the severity of the presentation. Further investigation (e.g. ultrasound) is usually warranted however to exclude any underlying cause such as a tumour

Question 19

Define what is meant by a congenital undescended testis [1]

Answer 19

A congenital undescended testis is one that has failed to reach the bottom of the scrotum by 3 months of age.

Question 20

In the vast majority of cases the cause of the maldescent of tests is unknown. A proportion may be associated with other congenital defects including: [5]

Answer 20

• Patent processus vaginalis
• Abnormal epididymis
• Cerebral palsy
• Mental retardation
• Wilms tumour
• Abdominal wall defects (e.g. gastroschisis, prune belly syndrome)

Question 21

Describe the treatment for cryptochordism [3]

Answer 21

Orchidopexy at 6- 18 months of age.
- The operation usually consists of inguinal exploration, mobilisation of the testis and implantation into a dartos pouch.

Intra-abdominal testis should be evaluated laparoscopically and mobilised. Whether this is a single stage or two stage procedure depends upon the exact location.

After the age of 2 years in untreated individuals the Sertoli cells will degrade and those presenting late in teenage years may be better served by orchidectomy than to try and salvage a non functioning testis with an increased risk of malignancy.

Question 22

Describe what is meant by a posterior urethral valve, what it causes a risk of [2]

Answer 22

A posterior urethral valve is where there is tissue at the proximal end of the urethra (closest to the bladder) that causes obstruction of urine output.
- It occurs in newborn boys.
- The obstruction to the outflow of urine creates a back pressure into the bladder, ureters and up to the kidneys, causing hydronephrosis.
- A restriction in the outflow of urine prevents the bladder from fully emptying, leading to a reservoir of urine that increases the risk of urinary tract infections.

Question 23

Describe the presentation of posterior urethral valves [+]

Answer 23

• Difficulty urinating
• Weak urinary stream
• Chronic urinary retention
• Palpable bladder
• Recurrent urinary tract infections
• Impaired kidney function

Severe cases can cause obstruction to urine outflow in the developing fetus resulting in bilateral hydronephrosis and oligohydramnios (low amniotic fluid volume). The oligohydramnios leads to underdeveloped fetal lungs (pulmonary hypoplasia) with respiratory failure shortly after birth.

Question 24

Severe cases of posterior urethral valves may be picked up antenatally as [2]

How should you investigate cases presenting after birth?

Answer 24

Severe cases may be picked up on antenatal scans as oligohydramnios and hydronephrosis.

To investigate cases presenting after birth, for example young boys presenting with urinary tract infections:
* Abdominal ultrasound may show an enlarged, thickened bladder and bilateral hydronephrosis
* Micturating cystourethrogram (MCUG) shows the location of the extra urethral tissue and reflux of urine back into the bladder
* Cystoscopy involves a camera inserted into the urethra to get a detailed view of the extra tissue. Cystoscopy can be used to ablate or remove the extra tissue.

Question 25

Consider a Wilms tumour in a child under the age of 5 years presenting with a mass in the abdomen. The parents may have noticed the mass, or they may present with signs and symptoms of: [5]

Answer 25

Consider a Wilms tumour in a child under the age of 5 years presenting with a mass in the abdomen. The parents may have noticed the mass, or they may present with signs and symptoms of: **Abdominal pain** **Abdominal mass** - Unilateral in 95% of cases **Haematuria** - painless **Lethargy** **Fever** **Hypertension** **Weight** **loss**

Question 26

Dx [3] and Mx of Wilms tumour?

Answer 26

**Diagnosis**: * The initial investigation is an **ultrasound of the abdomen to visualise the kidneys.** * A **CT or MRI scan** can be used to stage the tumour * **Biopsy** to identify the **histology** is required to make a definitive diagnosis. **Management** - Treatment involves surgical excision of the tumour along with the affected kidney (**nephrectomy**). - **Adjuvant treatment** refers to treatment that is given after the initial management with surgery. This depends on the stage of the disease, the histology and whether it has spread. The main options are: **Adjuvant chemotherapy** **Adjuvant radiotherapy**

Question 27

NICE cancer referral guidelines for Wilms' tumour suggest the following [3]

Answer 27

* a palpable abdominal mass * an unexplained enlarged abdominal organ * unexplained visible haematuria.

Question 28

How do you distinguish between a hydrocele and a hernia? [+]

Answer 28

Question 29

# Lecture How do you investigate and manage unilateral undescended testes? [2]

Answer 29

**Unilateral UDT:** - Without hypospadias - **no further investigations required** **Mx**: - **Orchidopexy** from 6 months

Question 30

How do you investigate and manage biilateral undescended testes / unilateral w/ hypospadias? [2]

Answer 30

Rule out disorder of sexual development USS

Question 31

# Lecture How do you investigate for acute scrotal pain in children? [2]

Answer 31

**MSU for epididymo-orchitis** **Urgent scrotal exploration** - unless torsion can be confidently excluded

Question 32

What is important to note about the presentation of neonatal torsion ?[1]

Answer 32

Woody-hard testis - can be **painless**

Question 33

Dx? [1]

Answer 33

Idiopathic scrotal oedema

Question 34

CI for circumcision [2]

Answer 34

Hypospadias Buried penis

Question 35

Indications for circumcision? [2]

Answer 35

BXO Recurrent balanitis with scarred foreskin

Question 36

A 1 year child has abdominal pain They have this imaging. What is the dx? [1] What is the tx? [1]

Answer 36

**Intestinal malrotation** - whirlpool sign - Tx with **Ladd's procedure**

Question 37

Describe how ARPKD usually presents (and is therefore dx) [+]

Answer 37

ARPKD usually **presents** in the antenatal period with **oligohydramnios** and **polycystic kidneys seen on antenatal scans**. **Oligohydramnios** is a lack of amniotic fluid caused by reduced urine production by the fetus. - A lack of amniotic fluid leads to **Potter syndrome**, which is characterised by **dysmorphic features such as underdeveloped ear cartilage, low set ears, a flat nasal bridge and abnormalities of the skeleton**. - The oligohydramnios leads to **underdeveloped fetal lungs (pulmonary hypoplasia)**, resulting in **respiratory failure shortly after birth.** - Additionally, large cystic kidneys can take up so much space in the abdomen it becomes **hard for the neonate to breath adequately**

Question 38

Patients with polycystic kidney disease have a number of ongoing problems throughout life. What are they? [5]

Answer 38

* **Liver** **failure** due to **liver fibrosis** * **Portal** **hypertension** leading to **oesophageal varices** * **Progressive renal failure** * **Hypertension** due to renal failure * **Chronic lung disease**

Question 39

What is the prognosis of ARPKD? [1]

Answer 39

Survival depends of very extensive interventions from a number of different specialties both in the neonatal period and throughout life. Around 1/3 will die in the neonatal period. Around 1/3 will survive to adulthood.

Question 40

- Most children get control of daytime urination by [] years and nighttime urination by []-[] years.

Answer 40

- Most children get control of daytime urination by **2 years** and nighttime urination by **3 – 4 years.**

Question 41

What is meant by primary noctunal enuresis? [1] What is the most common cause of primary nocturnal enuresis?

Answer 41

**Primary nocturnal enuresis** is where the **child** has **never managed to be consistently dry at night**. The **most common cause** of primary nocturnal enuresis is a **variation on normal development**, particularly if the child is younger than 5 years. **Often patients will have a family history of delayed dry nights**. - In this situation reassurance is important, and there is no need to jump to further investigations or management.

Question 42

What are other causes of primary nocturnal enuresis (apart from variation on normal) [+]

Answer 42

**Overactive bladder** - Frequent small volume urination prevents the development of bladder capacity. **Fluid intake prior to bedtime** - particularly fizzy drinks, juice and caffeine, which can have a diuretic effect **Failure to wake** - due to particularly deep sleep and underdeveloped bladder signals **Psychological distress** - for example low self esteem, too much pressure or stress at home or school **Secondary causes** such as **chronic constipation, urinary tract infection, learning disability or cerebral palsy**

Question 43

Describe the management of enuresis [+]

Answer 43

The initial step in management of primary nocturnal enuresis is to **establish** the underlying cause. **It can be helpful to keep a 2 week diary of toileting, fluid intake and bedwetting episodes.** - This helps **establish any patterns and identifies areas that may be changed, such as fluid intake before bed**. It is important to take a history and examination to exclude underlying physical or psychological causes. **Reassure parents** of children under 5 years that it is likely to resolve without any treatment **Lifestyle changes:** reduced fluid intake in the evenings, pass urine before bed and ensure easy access to a toilet **Encouragement and positive reinforcement**. Avoid blame or shame. Punishment should very much be avoided. **Treat any underlying causes or exacerbating factors**, such as constipation **Enuresis alarms** - generally **first-line for children** - a device that makes a noise at the first sign of bed wetting, waking the child and stopping them from urinating. It requires quite a high level of training and commitment and needs to be used consistently for a prolonged period (i.e. at least 3 months). Some families may find them very helpful, whereas others may find they add to the burden and frustration and are counter productive. **Pharmacological treatment** - **Desmopressin** is an analogue of vasopressin (also known as anti-diuretic hormone). It reduces the volume of urine produced by the kidneys. It is taken at bedtime with the intention of reducing nocturnal enuresis. - **Oxybutinin** is an anticholinergic medication that reduces the contractility of the bladder. It can be helpful where there is an overactive bladder causing urge incontinence. - **Imipramine** is a tricyclic antidepressant. It is not clear how it works, but it may relax the bladder and lighten sleep.

Question 44

Causes of secondary nocturnal enuresis include: [5]

Answer 44

**Urinary tract infection** **Constipation** **Type 1 diabetes** **New psychosocial problems** (e.g. stress in family or school life) **Maltreatment** **Always think about abuse and safeguarding**, particularly with deliberate bedwetting, punishment for bedwetting (despite parental education) or unexplained secondary nocturnal enuresis. Management of secondary nocturnal enuresis is based on treating the underlying cause. The most common and easily treatable secondary causes are urinary tract infections and constipation. Other problems may require referral to secondary care for further management.

Question 45

Describe the pathophysiology of HUS [3]

Answer 45

**Thrombosis** of the **small blood vessels** throughout body due to **Shiga toxin** Classically produced by **E. Coli**. But also: * pneumococcal infection * HIV * rare: systemic lupus erythematosus, drugs, cancer

Question 46

What is the classic triad of HUS? [3]

Answer 46

Haemolytic uraemic syndrome is generally seen in young children and produces a triad of: * **acute kidney injury** * **microangiopathic haemolytic anaemia** * **thrombocytopenia**n- low platelets

Question 47

Which medications increase the risk of HUS? [5]

Answer 47

**Loperamide** **β-lactams, trimethoprim-sulfamethoxazole, metronidazole, azithromycin**

Question 48

Describe the presentation of HUS

Answer 48

**Diarrhoea** is the first symptom, which turns **bloody within 3 days**. Around a **week after the onset of diarrhoea**, the features of **HUS develop:** * Fever * Abdominal pain * Lethargy * Pallor * Reduced urine output (oliguria) * Haematuria * Hypertension * Bruising * Jaundice (due to haemolysis) * Confusion

Question 49

Investigations for HUS? [3]

Answer 49

**full blood count**: - anaemia, thrombocytopaenia, fragmented blood film **U&E:** - acute kidney injury **stool culture**

Question 50

What is the treatment for HUS ? [3]

Answer 50

**treatment is supportive e.g. Fluids, blood transfusion and dialysis if required** - there is NO role for antibiotics, despite the preceding diarrhoeal illness in many patients - Treatement for **hypertension** may also be needed the **indications for plasma exchange in HUS are complicated** - As a general rule plasma exchange is reserved for **severe cases** of HUS **not associated with diarrhoea** **eculizumab** (a C5 inhibitor monoclonal antibody) has evidence of greater efficiency than plasma exchange alone in the treatment of adult atypical HUS

Question 51

The two most common causes of nephritis in children are [2]

Answer 51

The two most common causes of nephritis in children are **post-streptococcal glomerulonephritis and IgA nephropathy (Berger’s disease).**

Question 52

Describe Post-Streptococcal Glomerulonephritis [2]

Answer 52

**Post-streptococcal glomerulonephritis** occurs **1 – 3 weeks** after a **β-haemolytic streptococcus infection**, such as tonsillitis caused by **Streptococcus pyogenes.** - **Immune complexes** made up of **streptococcal** **antigens**, **antibodies** and **complement** **proteins** get stuck in the **glomeruli** of the **kidney and cause inflammation** - **Subepithelial 'humps' of deposits trigger inflammation**, leading to epithelial cell damage, which allows the protein to filter more freely into the urine. The number of these deposits correlates with the degree of proteinuria. - Causes **AKI** ## Footnote NB: The clinical course of PSGN correlates to the rate of clearance of these immune complex deposits from the glomerulus.

Question 53

Describe the clinical presentation of PSGN [5]

Answer 53

The most commonly recognised clinical presentation among those diagnosed with **PSGN is an acute nephritic syndrome**; **Generalised oedema** [66% of patients who present] * Caused by water and salt retention due to renal insufficiency. * This can progress to severe complications of fluid overload, eg. Respiratory distress due to pulmonary oedema. **Hypertension** [60% of patients who present] * Caused by water and salt retention due to renal insufficiency. * The extent of hypertension can vary from mild to severe needing treatment **Gross haematuria**[40% of patients who present]; * Red blood cell components leak from glomerular capillaries through the damaged glomerular membrane into the urine. * Urine looks tea or cola-coloured. **Oliguria** * this varies significantly between affected individuals but also during the clinical course, as renal function initially declines and then improves. ## Footnote **NB**: PSGN can be asymptomatic(unknown proportion), diagnosed incidentally with microscopic haematuria. Some experts speculate the incidence of PSGN is a lot higher than previously thought, but because asymptomatic cases do not present and are therefore not recognised.

Question 54

Mx of PSGN? [1]

Answer 54

There is **no specific cure for PSGN**, so the focus of management is to **prevent and manage any complications that arise from fluid overload** **Monitoring blood pressure** - Loop diuretics provide rapid diuresis, reducing blood pressure. - If severe hypertensive encephalopathy develops, treatment with **anti-hypertensives may be needed**. However, ACE-inhibitors should be used with caution due to the risk of hyperkalemia. **Monitoring renal function** - Rarely, PSGN leads to significant renal insufficiency. In some cases, dialysis may be necessary. **Antibiotic therapy** should be given if there is any evidence of a **persistent streptococcal infection**. Early antibiotics reduce the incidence and severity of PSGN.

Question 55

What are short term [3] and long term [3] complicationsof PSGN?

Answer 55

**Short-term complications:** **Pulmonary oedema** - this can manifest with respiratory distress and usually correlates to clinically evident oedema and signs of fluid overload. **Hypertensive encephalopathy** - infrequently, severe hypertension develops into hypertensive encephalopathy, requiring anti-hypertensives to reduce blood pressure . **Severe acute kidney injury (AKI)** - requiring dialysis. Most cases in children resolve with no long-lasting effects. There is a small subset of cases that **develop late complications;** * **Hypertension** * **Proteinuria** * **Renal** **insufficiency**, which progresses to **renal** **failure**.

Question 56

# Lecture What investigations should you conduct for enuresis? [4]

Answer 56

**Urinary stick test culture and glucose** **Early morning Urine osmolality** * To exclude diabetes insipidus * if > 300 able to concentrate urine therefore not DI **Renal USS** **Anatomy and bladder emptying**