Paediatric Short Case Discussions

Paediatric Short Cases

CVS Short Case – Pansystolic Murmur

Patient Summary

A 10-year-old boy presents with a pansystolic murmur. On examination, a thrill is palpated at the left lower sternal edge, along with a parasternal heave. The pansystolic murmur is best heard at the left lower sternal edge, and a loud P2 is noted. The child appears otherwise well with no obvious signs of cyanosis or heart failure.

Contents

What is your most probable diagnosis and how would you determine if the VSD is small or large?

The most probable diagnosis is a Ventricular Septal Defect (VSD). A pansystolic murmur best heard at the left lower sternal edge is characteristic of a VSD due to blood flowing from the high-pressure left ventricle to the low-pressure right ventricle during systole.

Determining VSD Size:

Small VSD:
- Often associated with a loud, harsh pansystolic murmur with a thrill, as the small defect creates a high-velocity jet.
- No signs of heart failure or pulmonary hypertension (PHTN).
- Normal or soft P2.
- No parasternal heave.
- Normal apex beat.
- The child is usually asymptomatic and well-grown.
- Can close spontaneously, especially if muscular.
Large VSD:
- May have a softer murmur or even no murmur if Eisenmenger syndrome has developed due to equalization of pressures.
- Presence of signs of heart failure (e.g., tachypnea, poor feeding, recurrent respiratory infections, hepatomegaly, crepitations on lung auscultation).
- Loud P2 (indicating pulmonary hypertension).
- Parasternal heave (indicating right ventricular hypertrophy).
- Displaced apex beat.
- Poor growth or failure to thrive.
- Signs of pulmonary hypertension and eventually Eisenmenger syndrome.

What are the potential complications of VSD, and how would you clinically identify them?

VSDs, especially large ones, can lead to several complications affecting various systems.

Complications and Clinical Identification:

Heart Failure (HF):
- Symptoms: Tachypnea, dyspnea on exertion, poor feeding/poor weight gain in infants, sweating during feeds, recurrent lower respiratory tract infections (LRTIs).
- Signs: Tachycardia, gallop rhythm, hepatomegaly (due to right-sided heart failure), pulmonary crepitations/rales (due to pulmonary congestion), displaced apex beat.
Pulmonary Hypertension (PHTN):
- Signs: Loud P2 (often palpable P2), parasternal heave, eventually signs of right ventricular failure.
- The murmur may become softer or disappear as pulmonary vascular resistance increases and shunt lessens.
Eisenmenger Syndrome:
- Develops when severe pulmonary hypertension leads to reversal of shunt direction (right-to-left shunt) through the VSD.
- Signs: Central cyanosis (blue lips and tongue), clubbing (especially differential clubbing if a PDA is also present), loud P2, right ventricular heave.
- Heart sounds may show a single S2 or muffled S2.
- May be associated with a quieter or absent VSD murmur.
Infective Endocarditis (IE):
- Symptoms: Persistent fever, malaise, anorexia, new or changing murmur.
- Signs: Splenomegaly, petechiae, Janeway lesions, Osler’s nodes, Roth spots. [cite_start]Dental caries are a significant risk factor[cite: 52].
Aortic Regurgitation (AR):
- Occurs if there is prolapse of an aortic cusp through the VSD (typically perimembranous VSD).
- Signs: Early diastolic murmur at the left sternal edge, bounding peripheral pulses.

What investigations would you do for a child with a suspected VSD?

Investigations aim to confirm the diagnosis, assess the size and hemodynamic significance of the VSD, identify complications, and guide management.

Key Investigations:

Electrocardiogram (ECG):
- Small VSD: May be normal or show mild left ventricular hypertrophy (LVH) if the shunt is significant.
- Large VSD: Signs of biventricular hypertrophy (BVH) or isolated LVH/RVH, left atrial enlargement.
- With severe PHTN/Eisenmenger: Right ventricular hypertrophy (RVH) features.
Chest X-ray (CXR):
- Small VSD: Usually normal heart size and pulmonary vascularity.
- Large VSD: Cardiomegaly (especially left atrial and left ventricular enlargement), increased pulmonary vascular markings (plethora), prominent pulmonary artery.
- With severe PHTN/Eisenmenger: Prominent pulmonary arteries, pruning of peripheral pulmonary vessels, normal or reduced heart size.
Echocardiogram (Echo):
- This is the definitive diagnostic test.
- Confirms the presence, size, and location (muscular, perimembranous, supracristal) of the VSD.
- Quantifies shunt size and direction.
- Estimates pulmonary artery pressure.
- Assesses ventricular size and function, and detects associated lesions (e.g., aortic regurgitation, pulmonary stenosis).

Other Investigations (if complications or specific concerns):

Full Blood Count (FBC): To check for anemia (e.g., in heart failure or IE), polycythemia (in cyanotic heart disease).
Blood Culture & Sensitivity: If infective endocarditis is suspected.
Erythrocyte Sedimentation Rate (ESR) / C-Reactive Protein (CRP): Elevated in infection (e.g., IE).
Renal function tests, Liver function tests: To assess end-organ function in severe heart failure or long-standing disease.

What is the management of a child with VSD?

Management depends on the size of the VSD, the presence and severity of symptoms and complications, and the child’s age.

1. Medical Management:

Observation: Small, asymptomatic VSDs often close spontaneously, especially muscular VSDs. Regular follow-up with a pediatric cardiologist is essential to monitor for spontaneous closure and development of complications.
Heart Failure Management (for large VSDs causing symptoms):
- Diuretics: Furosemide to reduce fluid overload.
- ACE inhibitors: Captopril or enalapril to reduce systemic vascular resistance and left-to-right shunt.
- Nutritional support: High-calorie feeds to support growth in infants with increased metabolic demands due to heart failure.
- Treat infections promptly.
Infective Endocarditis (IE) Prophylaxis:
- Current guidelines generally recommend IE prophylaxis only for high-risk cardiac conditions and for specific dental procedures (involving manipulation of gingival tissue or periapical region of teeth, or perforation of oral mucosa).
- VSD patients without previous IE, prosthetic valves, or uncorrected cyanotic heart disease are generally NOT routinely recommended for prophylaxis, unless specifically high risk.
- Good oral hygiene is crucial.

2. Surgical/Interventional Management:

Indications for Intervention:
- Large VSDs with significant left-to-right shunt causing symptoms (e.g., intractable heart failure, poor growth).
- Development of pulmonary hypertension that is progressive or irreversible.
- Development of aortic regurgitation due to VSD.
- Repeated episodes of infective endocarditis.
- Small VSDs that are still open beyond a certain age (e.g., 2-4 years) or if they are causing complications.
Types of Intervention:
- Surgical Closure (Open Heart Surgery): Most common approach, especially for large defects. Involves placing a patch over the VSD. May leave a midline sternotomy scar.
- Transcatheter Device Closure: Suitable for selected muscular VSDs (usually small to moderate size) or some perimembranous VSDs. Less invasive than surgery.

Follow-up: Regular follow-up with a pediatric cardiologist is crucial to monitor the VSD, assess for complications, and determine the optimal timing for intervention if needed.

Paediatric Short Cases

CVS Short Case – Cyanosis and Clubbing with Midline Scar

Patient Summary

A 13-year-old girl presents with central cyanosis and digital clubbing, along with a midline sternotomy scar. On cardiovascular examination, a systolic murmur is best heard at the left sternal border. She also has neurodevelopmental delay and failure to thrive.

What is your most probable diagnosis given the findings?

[cite_start]

Given the central cyanosis, clubbing, midline sternotomy scar, and systolic murmur, the most probable diagnosis is a corrected or partially corrected Cyanotic Congenital Heart Disease (CHD), most likely Tetralogy of Fallot (TOF). [cite: 104, 167, 170, 197, 218, 224, 828]

Central Cyanosis and Clubbing: These are classic signs of a right-to-left shunt, indicating a cyanotic heart disease. [cite: 26, 138, 219, 828]
Midline Sternotomy Scar: Suggests previous open-heart surgery, which is typically performed for complex congenital heart defects like TOF. [cite: 28, 197, 218, 828]
Systolic Murmur at Left Sternal Border: This could be residual pulmonary outflow tract obstruction or a VSD.
Neurodevelopmental Delay and Failure to Thrive: These are common complications in children with severe or long-standing cyanotic heart disease due to chronic hypoxemia and increased metabolic demands. [cite: 104, 107]

How would you differentiate TOF from other cyanotic heart diseases or VSD with Eisenmenger syndrome?

Differentiating TOF from other conditions, especially VSD with Eisenmenger syndrome, is crucial for management.

Key Differentiating Features:

Tetralogy of Fallot (TOF):
- Murmur: Typically an ejection systolic murmur at the pulmonary area due to right ventricular outflow tract obstruction (RVOTO). [cite_start]A pansystolic murmur due to VSD may also be present, but the RVOTO murmur is usually dominant. [cite: 155, 156, 169, 197]
- P2 (Pulmonary Component of S2): Usually soft or single due to reduced pulmonary blood flow. [cite: 12, 13, 119]
- Cyanosis Onset: Often presents with cyanosis in infancy, which may worsen with crying or exertion (“tet spells”).
- Clubbing: Present due to chronic hypoxemia. [cite: 138, 219]
- Squatting: Older children may squat to increase systemic vascular resistance and reduce right-to-left shunt.
- CXR: “Boot-shaped heart” (coeur en sabot) due to RVH and concave pulmonary artery segment, with oligaemic lung fields.
VSD with Eisenmenger Syndrome:
- Murmur: The original VSD pansystolic murmur may become softer or absent as pulmonary vascular resistance increases and the shunt reverses. [cite: 27]
- P2: Characteristically loud and often palpable due to severe pulmonary hypertension. [cite: 27, 88, 99, 119]
- Cyanosis Onset: Develops later in childhood or adolescence after a long period of significant left-to-right shunt and progressive pulmonary vascular disease.
- Clubbing: Present due to chronic hypoxemia. [cite: 219]
- CXR: May show cardiomegaly and prominent pulmonary arteries initially, followed by pruning of peripheral pulmonary vessels as pulmonary hypertension becomes severe.
Other Complex Heart Diseases:
- Different murmurs, heart sounds, and associated features depending on the specific anatomy (e.g., Transposition of Great Arteries, Truncus Arteriosus).
- A thorough echocardiogram is essential for definitive diagnosis.

What are the potential complications this child could develop or might have already developed?

Given the history of complex cyanotic heart disease and likely previous surgical intervention, this child is at risk for various complications, some of which may already be present.

Potential Complications:

Residual Cardiac Defects/Lesions:
- Residual Pulmonary Stenosis: Even after surgical repair, some degree of RVOTO can persist. [cite: 71]
- Residual VSD: Incomplete closure of the VSD.
- Pulmonary Regurgitation: Often a consequence of transannular patch repair during TOF surgery.
Arrhythmias:
- Due to surgical scars or ongoing myocardial stress (e.g., ventricular tachycardia, atrial fibrillation).
Infective Endocarditis (IE):
- Risk due to intracardiac patches or residual defects. Manifests as persistent fever, new murmurs, splenomegaly. [cite_start]Dental caries is a significant risk factor for IE. [cite: 63, 118]
Cerebral Abscess/Stroke:
- Paradoxical emboli through right-to-left shunts can lead to cerebral abscesses or ischemic strokes. Symptoms include focal neurological deficits, seizures, headaches.
“Hypercyanotic Spells” (Tet Spells):
- Although less common after corrective surgery, severe exacerbations of cyanosis can still occur, especially with residual RVOTO.
Polycythemia and Hyperviscosity Syndrome:
- Chronic hypoxemia stimulates erythropoiesis, leading to increased red blood cell mass. This can cause increased blood viscosity, risking thrombosis (e.g., stroke), headache, and fatigue.
Developmental Delay and Learning Difficulties:
- Common due to chronic hypoxemia, malnutrition, and recurrent complications. [cite_start]The patient already presents with neurodevelopmental delay. [cite: 145, 107]
Growth Impairment (Failure to Thrive):
- Increased metabolic demands and chronic illness contribute to poor growth. [cite_start]The patient already presents with failure to thrive. [cite: 104, 107]
Renal Dysfunction:
- Long-term cyanosis can affect renal function.
Dental Caries:
- Children with complex CHD are prone to dental issues, which are a major risk factor for IE. [cite: 52, 118]

What is the mechanism of a Blalock-Taussig (BT) shunt and why is it performed?

The Blalock-Taussig (BT) shunt is a palliative surgical procedure performed to increase pulmonary blood flow in cyanotic heart diseases with reduced pulmonary blood flow, such as severe Tetralogy of Fallot, pulmonary atresia, or tricuspid atresia.

Mechanism:

A systemic-to-pulmonary artery shunt is created. Classically, the subclavian artery is anastomosed to the pulmonary artery. In modern practice, a synthetic conduit (Gore-Tex tube) is typically used to connect the subclavian artery (or innominate artery) to the ipsilateral pulmonary artery (Modified BT shunt).
This diverts a portion of systemic arterial blood flow into the pulmonary circulation.
This increased blood flow to the lungs leads to better oxygenation of blood, thereby reducing cyanosis and improving systemic oxygen delivery.

Purpose:

Palliation: It is a temporary measure, not a definitive correction. It provides symptomatic relief and allows the child to grow and gain weight until definitive corrective surgery (e.g., full repair of TOF) can be safely performed at a later age (typically between 6-12 months).
Improved Oxygenation: Increases the amount of oxygenated blood circulating in the body, reducing cyanosis and improving tissue perfusion.
Promotes Pulmonary Artery Growth: Adequate pulmonary blood flow is essential for the growth and development of the pulmonary arteries, which is crucial for future definitive repair.
Reduces “Tet Spells”: By increasing pulmonary blood flow, it helps to prevent or reduce hypercyanotic spells.

A BT shunt scar would typically be a lateral thoracotomy scar, not a midline sternotomy scar. If a midline sternotomy scar is present, it suggests a more complex, previous repair (which often involves patch repair) or that the BT shunt was performed via a median sternotomy approach (less common for BT shunts, but possible for central shunts).

Paediatric Short Cases

CVS Short Case – Ejection Systolic Murmur

Patient Summary

A 7-year-old girl presents with an ejection systolic murmur best heard in the pulmonary area. On examination, a wide fixed splitting of the second heart sound is noted, but no thrill is present. She appears well and has no signs of cyanosis or clubbing. She has a midline sternotomy scar, but despite this, the murmur is still audible.

What is your most probable diagnosis and why can the murmur still be heard after surgical correction?

The most probable diagnosis is an Atrial Septal Defect (ASD), which has likely undergone previous surgical repair. The characteristic findings supporting this diagnosis are:

Ejection Systolic Murmur in Pulmonary Area: This murmur is caused by increased blood flow across the pulmonary valve due to the left-to-right shunt at the atrial level. [cite: 828]
Wide Fixed Splitting of the Second Heart Sound (S2): This is a hallmark sign of an ASD, caused by delayed closure of the pulmonary valve (P2) due to increased right ventricular volume, which is unaffected by respiration. [cite: 828, 183]
Midline Sternotomy Scar: Indicates previous open-heart surgery, which is a common approach for ASD repair. [cite: 828]
Acyanotic, No Clubbing, Well-looking: These features are consistent with an acyanotic heart lesion. [cite: 828]

Why the Murmur is Still Heard After Surgical Correction:

Even after successful surgical closure of an ASD, a murmur can persist due to several reasons:

Residual Shunt: There might be a small, hemodynamically insignificant residual shunt if the defect was not completely closed.
Residual Pulmonary Stenosis (PS) or Increased Pulmonary Flow: While the ASD is closed, there might be residual increased flow across the pulmonary valve, or even mild pulmonary stenosis that was not addressed during surgery, causing an ejection systolic murmur. [cite: 71, 199] This is common after BT shunt (which is usually associated with TOF), but can occur with ASD repair if there’s related outflow obstruction.
Pulmonary Artery Dilatation: Long-standing increased flow through the pulmonary artery due to the ASD can lead to persistent dilatation, which may cause a flow murmur even after defect closure.
Scar Tissue: The presence of surgical scar tissue in the heart or great vessels can create turbulent flow, leading to a murmur.

What are the potential complications of ASD?

While often benign, especially if small, ASDs can lead to complications if left uncorrected or if they are large.

Potential Complications of ASD:

Pulmonary Hypertension (PHTN):
- Long-standing large left-to-right shunt can lead to increased pulmonary blood flow and eventually irreversible pulmonary vascular disease.
- This can progress to Eisenmenger syndrome.
Heart Failure (HF):
- Although less common in childhood compared to VSDs, large ASDs can lead to right-sided heart failure in adulthood due to chronic volume overload of the right ventricle.
Arrhythmias:
- Atrial arrhythmias, such as atrial fibrillation or flutter, are common complications, particularly in adults with uncorrected ASDs, due to chronic atrial stretch.
Paradoxical Embolism:
- Although rare, a clot from the venous system (e.g., deep vein thrombosis) can pass through the ASD into the systemic circulation, leading to stroke or other arterial emboli.
Infective Endocarditis (IE):
- The risk of IE in uncorrected ASDs is generally considered low, lower than VSD or PDA, but it remains a theoretical risk.
Right Ventricular Dysfunction:
- Chronic volume overload can lead to right ventricular hypertrophy and eventual dysfunction.
Recurrent Respiratory Infections:
- While more commonly associated with VSDs and PDAs, increased pulmonary blood flow in large ASDs can sometimes predispose to respiratory infections.

What investigations would you do for a child with a suspected ASD?

Investigations are crucial for confirming the diagnosis, assessing the size and hemodynamic significance, and ruling out other conditions.

Key Investigations:

Electrocardiogram (ECG):
- Typically shows right axis deviation and incomplete or complete right bundle branch block (RBBB) due to right ventricular volume overload. [cite: 828]
- May show right atrial enlargement.
Chest X-ray (CXR):
- May show cardiomegaly (especially right atrial and right ventricular enlargement).
- Increased pulmonary vascular markings (plethora), reflecting increased pulmonary blood flow.
- Prominent pulmonary artery.
Echocardiogram (Echo):
- This is the definitive diagnostic test. [cite: 828]
- Confirms the presence, size, and type of ASD (e.g., secundum, primum, sinus venosus).
- Quantifies the size and direction of the shunt.
- Assesses right ventricular size and function, and estimates pulmonary artery pressure.
- Identifies any associated anomalies.

What is the management of a child with an ASD, and when is intervention indicated?

The management of ASD depends on its size, the presence of symptoms, and the child’s age.

1. Medical Management:

Observation: Small ASDs, particularly secundum defects, can close spontaneously in early childhood. Regular follow-up with a pediatric cardiologist is essential to monitor for spontaneous closure and development of complications.
No specific medications are usually required for an uncomplicated ASD. Heart failure medications are generally not needed unless significant right heart failure develops (rare in childhood for isolated ASD).
Infective Endocarditis (IE) Prophylaxis: Generally not recommended for uncomplicated ASDs. Good oral hygiene is paramount.

2. Intervention (Closure of ASD):

Indications for Closure:
- Significant left-to-right shunt: Indicated by signs of right ventricular volume overload on echocardiogram, even if asymptomatic. This prevents long-term complications like pulmonary hypertension and right heart failure.
- Symptoms: Such as exercise intolerance, recurrent respiratory infections, or growth failure.
- Pulmonary Hypertension: If PHTN develops and is reversible.
- Paradoxical Embolism: If there’s a history of paradoxical embolism.
Timing of Closure:
- Typically performed electively between ages 3-5 years, or earlier if symptoms are severe. This allows for potential spontaneous closure and ensures the child is of sufficient size for the procedure.
Methods of Closure:
- Transcatheter Device Closure: The preferred method for most secundum ASDs. A device is inserted via a catheter to close the defect, avoiding open-heart surgery. It is a less invasive procedure.
- Surgical Closure (Open Heart Surgery): Performed for large ASDs, primum or sinus venosus types (which cannot be closed by device), or if device closure is not anatomically feasible. This involves a midline sternotomy scar. [cite_start]The defect is closed directly or with a patch. [cite: 828]

Paediatric Short Cases

CVS Short Case – Continuous Murmur in Pulmonary Area

Patient Summary

A 23-day-old baby presents with a continuous murmur best heard in the pulmonary area. On examination, a thrill is palpated in most of the heart areas, and the apex beat is displaced to the 6th intercostal space. The peripheral pulses are described as bounding.

What is your most probable diagnosis, and what are the specific characteristics of the murmur?

Based on the clinical findings, the most probable diagnosis is a Patent Ductus Arteriosus (PDA).

Characteristics of the Murmur:

Type: Continuous murmur, also known as a “machinery murmur”[cite: 203].
Timing: Heard throughout systole and extending into diastole.
Location: Typically loudest in the left upper sternal border/pulmonary area[cite: 203].
Mechanism: The murmur is generated by the continuous flow of blood from the high-pressure aorta to the lower-pressure pulmonary artery through the patent ductus. [cite_start]The pressure gradient is maintained throughout the cardiac cycle, hence the continuous nature of the murmur[cite: 1206].
Associated findings: A palpable thrill can be present in the pulmonary area due to significant turbulent flow[cite: 207].

How would you determine if this PDA is complicated or uncomplicated, and what is the significance of the peripheral pulses and apex beat?

[cite_start]

Determining whether a PDA is complicated or uncomplicated involves assessing the hemodynamic significance of the shunt and the presence of any secondary effects or complications[cite: 210].

Uncomplicated PDA:

Asymptomatic: The baby is typically asymptomatic or has very mild symptoms.
Normal Growth: Good weight gain and overall growth.
No Signs of Heart Failure: No tachypnea, feeding difficulties, or hepatomegaly.
No Signs of Pulmonary Hypertension: P2 is not loud or palpable.
The physical findings (murmur, bounding pulses) are present but not indicative of severe hemodynamic compromise.

Complicated PDA:

Signs of Heart Failure:
- Respiratory Distress: Tachypnea, dyspnea, retractions, especially during feeding.
- Feeding Difficulties: Poor feeding, fatigue with feeds, leading to poor weight gain/failure to thrive.
- Hepatomegaly: Due to systemic venous congestion.
- Crepitations/Rales: Indicating pulmonary congestion.
Signs of Pulmonary Hypertension (PHTN):
- Loud and possibly palpable P2: Due to increased pulmonary artery pressure.
- If PHTN becomes severe and pulmonary vascular resistance exceeds systemic, the shunt may reverse (right-to-left), leading to differential cyanosis (cyanosis and clubbing of the lower extremities but not the upper extremities, or less severe in the upper extremities). The murmur may become softer or absent.
Recurrent Respiratory Infections: Increased pulmonary blood flow makes the lungs more susceptible to infections.
Infective Endarteritis: Although rare, infection of the ductal lumen can occur.

Significance of Peripheral Pulses and Apex Beat:

Bounding Peripheral Pulses: This is a characteristic finding in PDA[cite: 204]. It indicates a large pulse pressure, caused by the runoff of blood from the aorta to the pulmonary artery during diastole. This leads to a rapid rise and fall in the arterial pressure, felt as bounding pulses.
Displaced Apex Beat: The apex beat displaced to the 6th intercostal space [cite: 207] suggests left ventricular volume overload and cardiac enlargement, which occurs in hemodynamically significant PDAs due to the large left-to-right shunt.

In this baby, the presence of a thrill in most heart areas, a displaced apex beat, and bounding pulses strongly suggests a hemodynamically significant PDA, indicating it is likely complicated with signs of volume overload.

What is the management plan for this patient?

[cite_start]

The management of PDA depends on the child’s age, size, gestational age (if premature), and the presence of symptoms or complications[cite: 205].

1. Initial Assessment and Stabilization:

Assess the severity of symptoms, particularly signs of heart failure or respiratory distress.
Monitor vital signs, oxygen saturation, and fluid balance.
Ensure adequate nutrition.

2. Medical Management:

Fluid Restriction and Diuretics: For infants with signs of heart failure due to volume overload (e.g., Furosemide) to reduce pulmonary congestion.
Indomethacin or Ibuprofen (NSAIDs):
- These are often the first-line medical treatments for premature infants with hemodynamically significant PDAs.
- They inhibit prostaglandin synthesis, which is crucial for maintaining ductal patency.
- They are less effective in full-term infants and older children as the ductal tissue becomes less responsive to these medications. Given the age of 23 days, medical closure with NSAIDs might be less successful but can still be attempted in selected cases, especially if very symptomatic.

3. Intervention (Closure of PDA):

Indications for Closure:
- Hemodynamically significant PDA (causing symptoms, cardiomegaly, or pulmonary hypertension) that fails to close spontaneously or respond to medical therapy.
- Risk of long-term complications, even if asymptomatic (e.g., preventing pulmonary vascular disease).
Timing of Closure:
- For term infants and older children, if the PDA is significant and not closing spontaneously, closure is usually recommended electively.
Methods of Closure:
- Transcatheter Device Closure: This is the preferred method for most infants and children beyond the neonatal period with a hemodynamically significant PDA. A device (coil or occluder) is inserted via a catheter to close the duct. It is a minimally invasive procedure.
- Surgical Ligation: Involves ligating (tying off) the PDA. This is usually reserved for very small or premature infants who fail medical management, or when transcatheter closure is not feasible due to anatomical considerations. It involves a left thoracotomy incision.

4. Follow-up:

Regular follow-up with a pediatric cardiologist is essential to monitor the PDA, assess response to treatment, and detect any complications.

Paediatric Short Cases

RS Short Case – Bilateral Diffuse Rhonchi

Patient Summary

A 9-year-old girl presents with bilateral diffuse rhonchi, more prominent on the right side. She is febrile and has bilateral basal dullness on percussion. A cannula is present in her right arm. She is generally ill-looking.

What is your diagnosis?

Given the clinical presentation:

Bilateral diffuse rhonchi: Suggests widespread airway obstruction.
Febrile and ill-looking: Points towards an infective process.
Bilateral basal dullness: Suggests consolidation or effusion in the lung bases.
Cannula in situ: Implies the child is unwell enough to require IV access for medications or fluids, consistent with an acute exacerbation or severe infection.

The most probable diagnosis is Infective Exacerbation of Bronchial Asthma. The diffuse rhonchi align with asthma, and the fever and ill appearance point to an infection as the trigger for exacerbation. Bilateral basal dullness could represent some associated bronchopneumonia or atelectasis due to mucous plugging.

[cite_start]

However, given the bilateral coarse crepitations and wheezing mentioned in similar cases[cite: 321], a diagnosis of Bronchopneumonia should also be strongly considered, as it presents with widespread inflammatory changes in the bronchioles and alveoli.

How would you assess the severity of her respiratory distress?

Assessing the severity of respiratory distress is crucial in managing acute respiratory conditions like asthma exacerbations or pneumonia. I would look for the following features:

Signs of Respiratory Distress:

Respiratory Rate (RR): Compare to age-appropriate norms. An increased RR (tachypnea) is often the earliest sign.
Work of Breathing:
- Accessory Muscle Use: Intercostal, subcostal[cite: 259], suprasternal, supraclavicular retractions.
- Nasal Flaring: Widening of nostrils with inspiration.
- Grunting: Expiratory sound indicating glottic closure to maintain positive end-expiratory pressure.
- Head Bobbing: In severe cases, especially in infants.
Air Entry:
- Reduced or Absent Air Entry: Suggests severe obstruction or consolidation/effusion.
Auscultatory Findings:
- Rhonchi: Diffuse, bilateral, polyphonic [cite: 276, 281, 303, 310] (variable pitches) in asthma exacerbation.
- Wheezing: Inspiratory and/or expiratory. Absent wheezing in a severely distressed child can indicate very severe airway obstruction (“silent chest”).
- Crepitations/Rales: Coarse crepitations, especially bilateral[cite: 321, 325, 338], suggest fluid or inflammation in the alveoli/bronchioles, common in bronchopneumonia or bronchiolitis.
- Prolonged Expiration: Characteristic of obstructive airway disease like asthma[cite: 281].
Oxygen Saturation ($SpO_2$): Measured by pulse oximetry. A low $SpO_2$ (e.g., <92% on room air) indicates hypoxemia.
Consciousness Level/General Condition:
- Irritability, restlessness, drowsiness, or altered consciousness indicate severe hypoxemia or hypercapnia.
- Ability to talk (e.g., short phrases vs. single words in asthma).
Color: Presence of central cyanosis indicates severe hypoxemia.
Heart Rate: Tachycardia can be a sign of respiratory distress or fever.

Can it be pneumonia? How would you differentiate it from asthma?

Yes, it can be pneumonia, or a bronchopneumonia, especially with the fever, ill appearance, and basal dullness. Differentiating between infective exacerbation of asthma and pneumonia (or bronchopneumonia) can be challenging as they can have overlapping symptoms.

Differentiation:

[cite_start] [cite_start] [cite_start] [cite_start] [cite_start] [cite_start] [cite_start] [cite_start]

Feature	Infective Exacerbation of Asthma	Pneumonia/Bronchopneumonia
History	Prior history of recurrent wheezing episodes, triggers (allergens, cold air, exercise), family history of atopy[cite: 265, 279, 313]. [cite_start]May have features of hay fever[cite: 254, 267].	Often acute onset cough, fever, rapid breathing. May follow viral URTI. No prior history of recurrent wheezing.
Cough	Dry, hacking, paroxysmal cough.	Productive cough (with sputum), can be dry.
Fever	May be present, especially if infective trigger[cite: 276, 278].	Prominent, often high-grade[cite: 320].
Auscultation	Bilateral diffuse rhonchi (polyphonic) [cite: 276, 281, 303, 310][cite_start], prolonged expiration[cite: 281]. Wheezing is prominent. Occasional crackles if mucous plugging.	Localized or bilateral coarse crepitations[cite: 321, 325, 338]. Bronchial breath sounds over consolidation. Wheezing may be present if there’s associated bronchospasm (bronchopneumonia). [cite_start]Reduced air entry. [cite: 276]
Percussion	Usually resonant or hyper-resonant if significant air trapping.	Dullness over areas of consolidation or pleural effusion[cite: 276].
Chest X-ray	Hyperinflation, flattened diaphragm. Minimal infiltrates.	Consolidation (lobar or patchy), infiltrates, pleural effusion[cite: 142].
Response to Bronchodilators	Rapid improvement with salbutamol nebulization[cite: 306].	Little or no response to bronchodilators.

In this child, the bilateral diffuse rhonchi strongly suggest asthma, but the fever, ill appearance, and bilateral basal dullness raise significant suspicion for a co-existing or primary pneumonia/bronchopneumonia.

As the House Officer, how would you manage this patient when she comes to the ward today?

As the House Officer, my management would follow a structured approach, prioritizing stabilization and confirming the diagnosis while initiating appropriate therapy.

1. Immediate Assessment and Stabilization (Acute Management):

A – Airway: Ensure clear and patent airway.
B – Breathing:
- Assess respiratory rate, effort, presence of accessory muscle use, SpO2.
- Administer oxygen if SpO2 < 94% [Sri Lankan National Asthma Guidelines].
- Administer Salbutamol nebulization (2.5-5 mg for children 5 years and older, 0.1-0.15 mg/kg for younger children) initially via oxygen-driven nebulizer, repeat every 20 minutes for 1 hour (3 back-to-back nebulizations)[cite: 302].
C – Circulation:
- Assess heart rate, capillary refill time, blood pressure.
- Ensure the IV cannula is patent. [cite_start]If not, secure IV access for medications[cite: 274, 288, 294, 340].
D – Disability: Assess level of consciousness (AVPU).
E – Exposure: Fully expose and examine the child.
Systemic Corticosteroids: Administer oral prednisolone (1-2 mg/kg, max 60 mg/day) or IV hydrocortisone (4 mg/kg bolus, then 4 mg/kg every 6 hours) immediately to reduce airway inflammation[cite: 301, 308].

2. Diagnostic Workup:

Bedside Investigations:
- SpO2 monitoring (continuous).
- Urine Full Report (UFR) & Urine Culture & Sensitivity (C&S): To rule out Urinary Tract Infection (UTI) as a cause of fever [Sri Lankan National Guidelines].
Laboratory Investigations:
- Full Blood Count (FBC): To check for leukocytosis (suggesting bacterial infection), eosinophilia (suggesting allergic component of asthma)[cite: 1380].
- C-Reactive Protein (CRP): To assess inflammation and guide antibiotic use.
- Blood Culture & Sensitivity: If signs of sepsis.
Imaging:
- Chest X-ray (CXR): To confirm pneumonia, pleural effusion [cite: 142, 1109][cite_start], or other lung pathology[cite: 1383].

3. Ongoing Management:

Antibiotics: If pneumonia or other bacterial infection is confirmed or highly suspected, start empirical broad-spectrum antibiotics (e.g., Amoxicillin-Clavulanate or Ceftriaxone) based on local guidelines.
Nebulization: Continue salbutamol nebulization as needed (e.g., every 1-4 hours) based on clinical response. Consider adding ipratropium bromide if severe.
Magnesium Sulfate ($MgSO_4$): If poor response to initial therapy for severe asthma exacerbation, IV $MgSO_4$ (25-50 mg/kg over 20 minutes) can be given[cite: 302]. [cite_start]Monitor for side effects like hypotension and respiratory depression[cite: 1387].
Monitoring: Hourly monitoring of respiratory rate, heart rate, SpO2, work of breathing, and clinical response. Maintain fluid balance.
Social History and Patient Education: Explore potential triggers and compliance issues[cite: 1410, 1414, 1435]. Educate parents on medication use, compliance, trigger avoidance, and danger signs.
Nutritional support.

The management would be tailored based on the confirmed diagnosis and the child’s response to treatment. If it’s predominantly asthma, the focus will be on bronchodilators and steroids. If it’s bronchopneumonia, antibiotics will be key. If both, combination therapy.

What are the other positive findings you can see in an asthmatic patient (features of chronic illness or poorly controlled asthma)?

In patients with chronic or poorly controlled asthma, physical examination may reveal signs of long-standing airway obstruction and hyperinflation.

Features of Chronic/Poorly Controlled Asthma:

Respiratory System:
- Barrel Chest: Increased anteroposterior diameter of the chest due to chronic lung hyperinflation[cite: 300, 313].
- Harrison’s Sulci: Horizontal indentations along the lower border of the chest, at the diaphragmatic insertion, caused by prolonged diaphragmatic pull against softened ribs due to vitamin D deficiency and chronic labored breathing[cite: 300, 313].
- Subcostal and Intercostal Retractions: Persistent or frequent use of accessory muscles, even during quiet breathing, if severe[cite: 259].
- Pectus Carinatum (“Pigeon Chest”): Outward protrusion of the sternum, sometimes associated with chronic respiratory effort.
- Wheezing: May be persistent, even between acute exacerbations.
- Prolonged Expiration: A consistent finding in obstructive lung disease[cite: 281].
General Examination:
- Poor Growth/Failure to Thrive: Due to increased metabolic demand from chronic respiratory effort and frequent infections[cite: 1432, 1397].
- Pallor: May indicate chronic illness or anemia.
- Allergic Stigmata:
  - Allergic Shiners: Dark circles under the eyes due to venous congestion.
  - Allergic Salute: A transverse crease across the nasal bridge from repeated upward rubbing of the nose.
  - Dennie-Morgan Lines: Folds below the lower eyelids.
  - Eczematous Rash: Indicative of atopic dermatitis, a common comorbidity[cite: 1415, 75].
  - Nasal Polyps: Often associated with chronic rhinosinusitis and aspirin-exacerbated respiratory disease.
  - Features of Hay Fever/Allergic Rhinitis: Clear nasal discharge, sneezing, itchy eyes/nose[cite: 254, 267, 1509].
- Oral Cavity:
  - Oral Thrush (Candidiasis): Especially if on inhaled corticosteroids and not rinsing mouth after use[cite: 255].
  - Dental Caries: Can be a side effect of certain medications or poor oral hygiene.
- Drug Side Effects:
  - Cushingoid Features: If on prolonged systemic corticosteroids (e.g., moon face, buffalo hump, striae)[cite: 257].
  - Tremors: From high-dose beta-agonists like salbutamol[cite: 257].

What are the possible causative organisms for bronchopneumonia or infective exacerbation of asthma, and what are the differential diagnoses for this presentation?

Causative Organisms for Bronchopneumonia/Infective Exacerbation:

Viral:
- Respiratory Syncytial Virus (RSV): Very common, especially in younger children and infants.
- Influenza virus[cite: 323].
- Parainfluenza virus[cite: 323].
- Adenovirus.
- Rhinovirus.
Bacterial:
- Streptococcus pneumoniae (Pneumococcus): Most common bacterial cause of pneumonia in children.
- Haemophilus influenzae type b (Hib): Less common due to vaccination.
- Mycoplasma pneumoniae: Atypical pneumonia, common in older children.
- Chlamydia pneumoniae: Atypical pneumonia.
- Staphylococcus aureus: Can cause severe pneumonia, especially post-viral.
- Moraxella catarrhalis.

Differential Diagnoses (DDs) for Bilateral Rhonchi and Respiratory Distress:

Bronchial Asthma: As discussed, especially with infective exacerbation[cite: 260].
Bronchiolitis: Common in infants, typically viral, presents with diffuse rhonchi and crepitations[cite: 338, 343]. [cite_start]Often fine crepitations[cite: 344].
Bronchopneumonia: Inflammation of bronchioles and alveoli, can cause diffuse crackles and wheezing[cite: 321].
Acute Bronchitis: Viral infection of larger airways, causes cough and rhonchi.
Cystic Fibrosis: Chronic lung disease with recurrent infections, persistent cough, and wheezing.
Foreign Body Aspiration: Can cause localized wheezing or diffuse symptoms if it’s in a main bronchus[cite: 1495].
Heart Failure: Can cause pulmonary congestion, leading to crepitations and sometimes wheezing (cardiac asthma).
Aspiration Pneumonia: Especially in children with neurological impairment or dysphagia.
Allergic Bronchopulmonary Aspergillosis (ABPA): A hypersensitivity reaction in asthmatics, causes wheezing, cough, and infiltrates.
Pulmonary Edema: Can be cardiac or non-cardiac (e.g., ARDS), presenting with diffuse crepitations and respiratory distress.

Why would she be on an IV cannula, and what drugs might be given via the cannula in an acute exacerbation of asthma?

Reason for IV Cannula:

A child with acute respiratory distress, especially if febrile and ill-looking, might have an IV cannula inserted for several reasons:

Severity of Illness: Indicates that the child’s condition is severe enough to warrant hospital admission and intravenous access for rapid drug administration or fluid management. [cite: 288, 294, 340]
Unreliable Oral Intake: If the child is too breathless, nauseous, or unwilling to take oral medications or fluids.
Need for Intravenous Medications: Some critical medications for severe asthma exacerbation or pneumonia are given intravenously.
Hydration: To provide intravenous fluids if the child is dehydrated due to fever, tachypnea, or poor oral intake.

Drugs Given via Cannula in Acute Exacerbation of Asthma:

Systemic Corticosteroids:
- Hydrocortisone: Often given intravenously (4 mg/kg bolus, then 4 mg/kg every 6 hours) for severe exacerbations[cite: 308]. [cite_start]This is considered the most important drug to control the disease in the acute phase due to its anti-inflammatory action[cite: 301, 308].
Magnesium Sulfate ($MgSO_4$):
- Administered intravenously (25-50 mg/kg over 20 minutes) for severe asthma exacerbations unresponsive to initial bronchodilator and steroid therapy[cite: 302]. It acts as a bronchodilator.
Aminophylline/Theophylline (Methylxanthines):
- May be used in severe cases unresponsive to conventional therapy, though less common now due to side effects and narrow therapeutic index.
Antibiotics:
- If there’s suspicion or confirmation of a bacterial infection (e.g., pneumonia, as indicated by fever and basal dullness in this case), intravenous antibiotics (e.g., Ceftriaxone, Amoxicillin-Clavulanate) would be administered[cite: 274, 289].
Intravenous Fluids:
- To maintain hydration, especially if the child cannot tolerate oral fluids or has significant insensible losses due to fever and tachypnea.

Paediatric Short Cases

Abdomen Short Case – Hepatosplenomegaly and Jaundice

Patient Summary

A 7-year-old boy presents with mild icterus, hepatomegaly, and splenomegaly. He has prominent malocclusion and thalassemia facies. A Desferrioxamine rash is noted on his abdomen. His mother mentions that he is infrequently having blood transfusions.

What is your most probable diagnosis and how would you confirm it?

[cite_start]

The most probable diagnosis is Beta Thalassemia Major (Transfusion Dependent Thalassemia)[cite: 363, 396, 406, 410, 418, 1558].

Justification of Diagnosis:

Hepatosplenomegaly: Common in thalassemia due to extramedullary hematopoiesis and iron overload[cite: 360, 362, 369, 380, 395, 398].
Mild Icterus: Suggests hemolysis, a hallmark of thalassemia. [cite: 390, 395, 408, 409, 578]
Prominent Malocclusion and Thalassemia Facies: These facial features (frontal bossing, maxillary prominence, depressed nasal bridge) result from bone marrow expansion due to ineffective erythropoiesis[cite: 363, 369, 373, 416, 427, 1077, 1797].
Desferrioxamine Rash: Indicates prior or current iron chelation therapy, which is essential for managing iron overload in transfusion-dependent thalassemias[cite: 374].
Infrequent Blood Transfusions: This is a key piece of information. [cite_start]Inadequate transfusion leads to more severe ineffective erythropoiesis and consequently more pronounced splenomegaly, facial features, and iron overload complications[cite: 365, 392, 429].

Confirmation of Diagnosis:

Full Blood Count (FBC): Expected to show severe microcytic, hypochromic anemia (low MCV, MCH), target cells, nucleated red blood cells, and often an elevated red blood cell count despite anemia[cite: 403, 1602].
Blood Picture: Will show features of ineffective erythropoiesis and hemolysis, such as severe hypochromic microcytic anemia, anisocytosis, poikilocytosis, target cells, tear-drop cells, and nucleated red blood cells[cite: 404, 1603].
High-Performance Liquid Chromatography (HPLC) / Capillary Electrophoresis: This is the definitive confirmatory test[cite: 404, 1604, 1561]. It quantifies hemoglobin fractions (HbA, HbA2, HbF). In Beta Thalassemia Major, high HbF (fetal hemoglobin) and reduced or absent HbA are characteristic. HbA2 levels may be normal or slightly increased.
Serum Ferritin: Elevated levels indicate iron overload[cite: 1570, 1590, 1607].

Why is there hepatomegaly and splenomegaly in this patient? Are there signs of iron overload?

Reasons for Hepatosplenomegaly:

Ineffective Erythropoiesis: In thalassemia major, the bone marrow produces abnormal, short-lived red blood cells. To compensate for chronic anemia, there is massive expansion of erythropoietic activity in the bone marrow and extramedullary sites, particularly the spleen and liver. [cite_start]This is the primary reason for splenomegaly and hepatomegaly, especially if transfusions are infrequent[cite: 398, 1569, 1571].
Iron Overload: Chronic blood transfusions, which are necessary for survival in thalassemia major, lead to excessive iron accumulation in various organs, including the liver and spleen. This iron deposition contributes to hepatomegaly and can cause hepatic fibrosis and cirrhosis.
Increased Destruction of Red Blood Cells: The spleen, being the main site for clearing abnormal red blood cells, becomes enlarged and hyperactive (hypersplenism), further contributing to anemia and requiring more transfusions.

Signs of Iron Overload:

Yes, this child is at high risk for iron overload, especially with infrequent transfusions where chelation may be inadequate. [cite_start]While the Desferrioxamine rash indicates chelation is (or was) given[cite: 374], the infrequent transfusions suggest it might not be fully controlled. [cite_start]Clinical signs of iron overload often appear later, but it’s crucial to look for them[cite: 399, 400, 1607].

Skin Pigmentation: Bronzed or grayish skin color.
Cardiac Features: Signs of cardiac dysfunction such as arrhythmias, heart failure, and dilated cardiomyopathy (leading cause of death in inadequately chelated patients).
Endocrine Dysfunction: Iron deposition in endocrine glands can lead to:
- Delayed Puberty or Hypogonadism: Common in adolescents (this patient is 7, so not yet relevant, but a future concern)[cite: 378, 1609].
- Diabetes Mellitus: Iron accumulation in the pancreas.
- Hypothyroidism, Hypoparathyroidism, Adrenal Insufficiency: Less common but possible.
Liver Dysfunction: Progressive hepatomegaly, elevated liver enzymes, and signs of cirrhosis (e.g., ascites, jaundice).
Growth Failure: Particularly affecting height, due to chronic illness and endocrine dysfunction. [cite_start]The examiner specifically asked if growth was affected (height vs. weight)[cite: 401].

Is this patient’s blood transfusion and iron chelation adequate? What are the problems with massive splenomegaly?

Adequacy of Blood Transfusion and Iron Chelation:

[cite_start]

The statement “This patient is infrequently having blood transfusion” [cite: 392] directly suggests that his blood transfusion regimen is **not adequate**. [cite_start]Adequate transfusion therapy aims to maintain a pre-transfusion hemoglobin level above 9-10 g/dL to suppress ineffective erythropoiesis and prevent massive splenomegaly and bone deformities[cite: 365, 429, 1575, 1576]. Infrequent transfusions would lead to:

More pronounced hepatosplenomegaly (due to continued extramedullary erythropoiesis)[cite: 365].
Development or worsening of thalassemia facies.
Increased risk of iron overload, as transfusions are still given, but the interval between them might be too long, leading to greater stress on iron removal systems[cite: 372].
This patient’s current condition, including prominent malocclusion and facial features, supports the notion of inadequate transfusion leading to a poorly controlled state[cite: 364, 371].

[cite_start]

Regarding iron chelation, the presence of a Desferrioxamine rash indicates that chelation is being attempted[cite: 374]. However, the adequacy of chelation therapy (e.g., with Desferrioxamine or Deferasirox) must be monitored with regular serum ferritin levels and liver iron concentration (LIC). [cite_start]If transfusions are infrequent, iron overload may still occur or worsen, especially if chelation adherence or dosing is not optimal[cite: 372].

Problems with Massive Splenomegaly:

[cite_start]

Massive splenomegaly, a common feature in inadequately transfused thalassemia major patients, can lead to several problems[cite: 436, 1608]:

Hypersplenism: The enlarged spleen sequesters and destroys red blood cells, white blood cells, and platelets, leading to:
- Increased Anemia: Worsens the underlying anemia, increasing transfusion requirements.
- Leukopenia: Increased susceptibility to infections.
- Thrombocytopenia: Risk of bleeding (e.g., epistaxis, gum bleeding). [cite_start]This can also be a cause for low platelets[cite: 558].
Mechanical Compression: The large spleen can cause abdominal discomfort, early satiety, and interfere with feeding, leading to poor nutrition and growth.
Increased Transfusion Requirements: Due to hypersplenism, patients need more frequent and larger transfusions, exacerbating iron overload.
Risk of Splenic Infarction/Rupture: Although rare, a massively enlarged spleen is more susceptible to infarction or traumatic rupture.
Sequestration Crisis: Acute enlargement of the spleen leading to rapid pooling of blood and profound anemia.
Immune Impairment: Despite the large size, splenic function in fighting encapsulated bacteria might be impaired.

What investigations would you do if a child presents at 8 months with hepatosplenomegaly and suspected thalassemia? What is expected in FBC and blood picture before HPLC?

If an 8-month-old child presents with hepatosplenomegaly and suspected thalassemia, the initial investigations would focus on confirming the diagnosis and assessing the severity. Children with beta thalassemia major typically present between 6 months to 2 years as HbF (fetal hemoglobin) declines and HbA production fails.

Initial Investigations:

Full Blood Count (FBC): This is the crucial first step[cite: 402].
Blood Picture (Peripheral Smear): Essential for morphological assessment[cite: 404].
Reticulocyte Count: Typically elevated in hemolytic anemias.
Serum Ferritin: To assess iron status.
Liver Function Tests (LFTs) & Renal Function Tests (RFTs): To assess organ function.
Direct and Indirect Bilirubin: To evaluate jaundice type.
Hemoglobin Electrophoresis (HPLC/Capillary Electrophoresis): Definitive diagnostic test for thalassemia. This would be done after the initial blood work.

Expected Findings in FBC and Blood Picture Before HPLC:

Full Blood Count (FBC)[cite: 403]:
- Hemoglobin (Hb): Severely low, often $<7$ g/dL[cite: 1561].
- Mean Corpuscular Volume (MCV): Markedly low (microcytic).
- Mean Corpuscular Hemoglobin (MCH): Markedly low (hypochromic).
- Red Blood Cell Count (RBC): May be normal or even elevated despite anemia (characteristic of ineffective erythropoiesis).
- Red Cell Distribution Width (RDW): Often increased.
- White Blood Cell Count (WBC) and Platelets: May be normal or elevated (due to extramedullary hematopoiesis or stress) but can be low if hypersplenism is significant.
Blood Picture (Peripheral Smear)[cite: 404]:
- Marked Anisocytosis and Poikilocytosis: Variation in size and shape of red blood cells.
- Hypochromia and Microcytosis: Pale and small red blood cells.
- Target Cells: Characteristic due to excess cell membrane relative to hemoglobin.
- Nucleated Red Blood Cells (NRBCs): Presence of immature red blood cells in the peripheral blood, indicating severe ineffective erythropoiesis and marrow stress.
- Tear-drop Cells: May be seen.

These findings would strongly point towards a thalassemia syndrome, necessitating a confirmatory HPLC.

How would you manage this patient, assuming a diagnosis of Beta Thalassemia Major?

Management of Beta Thalassemia Major is lifelong and focuses on regular blood transfusions, iron chelation, and managing complications.

1. Blood Transfusion Therapy:

Purpose: To maintain adequate hemoglobin levels (pre-transfusion Hb target usually 9-10.5 g/dL) to suppress ineffective erythropoiesis, prevent bone deformities, and support normal growth and activity[cite: 1575].
Frequency and Volume: Typically 3-4 weekly transfusions of leukodepleted packed red blood cells. [cite_start]Volume calculation is based on weight and desired Hb increase[cite: 1589, 1574].
Monitoring: Pre and post-transfusion Hb, monitor for transfusion reactions (febrile non-hemolytic, allergic, hemolytic).

2. Iron Chelation Therapy:

Purpose: To remove excess iron accumulated from chronic transfusions and prevent iron overload-related organ damage (e.g., heart, liver, endocrine glands).
Initiation: Usually started after 10-20 transfusions or when serum ferritin reaches >1000 ng/mL, or after the age of 1-2 years.
Chelating Agents:
- Deferasirox (Exjade, Jadenu): Oral agent, often first-line due to convenience. [cite_start]Administered once daily[cite: 1562, 1612]. Monitor renal function and liver enzymes.
- Desferrioxamine (Desferal): Subcutaneous infusion over 8-12 hours, 5-7 nights a week. [cite_start]Very effective but less convenient[cite: 1578, 1615].
- Deferiprone (Ferriprox): Oral agent, usually used in combination therapy or for cardiac iron overload.
Monitoring Chelation: Regular serum ferritin measurements (every 3 months) [cite: 1590] and annual liver iron concentration (LIC) by T2* MRI of the liver. Cardiac MRI T2* is used to assess cardiac iron.

3. Splenectomy:

Indications: Considered if transfusion requirements significantly increase (e.g., >200 mL/kg/year) due to hypersplenism, or if massive splenomegaly causes significant mechanical symptoms or severe thrombocytopenia/leukopenia.
Timing: Usually deferred until age 5-6 years due to increased risk of overwhelming post-splenectomy infection (OPSI) in younger children.
Pre/Post-Splenectomy Care: Vaccinations against encapsulated bacteria (Pneumococcus, Meningococcus, Hib) and lifelong prophylactic antibiotics (e.g., Penicillin V) are crucial.

4. Management of Complications:

Growth and Development: Regular monitoring, nutritional counseling. Hormonal replacement therapy if endocrine deficiencies develop.
Cardiac Complications: Regular cardiac screening (echo, MRI T2*). Management of heart failure or arrhythmias.
Bone Health: Monitor for osteoporosis and bone pain.
Infections: Prompt treatment of any infections.

5. Genetic Counseling and Family Planning:

Counseling for parents regarding carrier status, recurrence risk, and options for future pregnancies (e.g., prenatal diagnosis, preimplantation genetic diagnosis)[cite: 1592, 1564].

6. Long-Term Follow-up:

Regular visits to a specialized thalassemia center with a multidisciplinary team (pediatric hematologist, endocrinologist, cardiologist, ophthalmologist, ENT, social worker, dentist).
Patients should avoid iron-rich foods or iron supplements.

Paediatric Short Cases

Abdomen Short Case – Jaundice, Hepatosplenomegaly & Abdominal Scar

Patient Summary

A 5-month-old baby girl presents with deep jaundice, hepatosplenomegaly, and a 15 cm transverse upper abdominal scar. The abdomen is symmetrically enlarged, but without ascites. Her mother states that the baby has been crying and irritable, making examination difficult.

What is your most probable diagnosis, and how does the scar provide a clue?

Given the constellation of deep jaundice, hepatosplenomegaly, and a transverse upper abdominal scar in a 5-month-old, the most probable diagnosis is **Biliary Atresia** following a **Kasai portoenterostomy** (surgical procedure).

Justification for Diagnosis:

**Deep Jaundice:** Persistent conjugated hyperbilirubinemia is the hallmark of biliary atresia.
**Hepatosplenomegaly:** Results from cholestasis, inflammation, and possibly portal hypertension secondary to progressive liver disease.
**Age of Presentation:** Biliary atresia typically presents in the neonatal period or early infancy with persistent jaundice.
**Transverse Upper Abdominal Scar (Kasai Scar):** This scar is highly suggestive of a previous Kasai portoenterostomy, which is the surgical treatment for biliary atresia. The length (15cm) is consistent with such a procedure.
**Irritability and Crying:** Could be due to underlying discomfort from hepatomegaly, jaundice, or early signs of complications.

What are the typical initial presentations of biliary atresia, and what are the initial investigations?

Typical Initial Presentations of Biliary Atresia:

Biliary atresia typically presents in the neonatal period (usually between 2-8 weeks of life) with:

**Persistent Jaundice:** This is the most consistent and earliest symptom, which persists beyond the physiological neonatal jaundice and is often noted to be worsening. This is conjugated (direct) hyperbilirubinemia.
**Acholic (Pale/Clay-colored) Stools:** Due to the absence of bile pigments reaching the intestines. This is a very strong diagnostic clue and a crucial question to ask the mother.
**Dark Urine:** Due to the excretion of conjugated bilirubin in the urine.
**Hepatosplenomegaly:** The liver may feel firm on palpation.
**Good initial appearance:** Infants often appear well at birth and for the first few weeks before jaundice deepens.

Initial Investigations for Suspected Biliary Atresia:

The goal of initial investigations is to differentiate biliary atresia from other causes of neonatal cholestasis, especially neonatal hepatitis, as early diagnosis is critical for a successful Kasai procedure.

**Serum Bilirubin (Total and Direct/Conjugated):**
- **Direct hyperbilirubinemia** (conjugated bilirubin > 1 mg/dL if total bilirubin < 5 mg/dL, or > 20% of total bilirubin if total bilirubin > 5 mg/dL) [cite: 470, 480] is essential for diagnosis.
**Liver Function Tests (LFTs):** Elevated AST, ALT, GGT, and Alkaline Phosphatase. Markedly elevated GGT is highly suggestive of biliary atresia.
**Abdominal Ultrasound (USS):**
- **Key features suggesting biliary atresia:** Absence or small size of the gallbladder, presence of the “triangular cord sign” (echogenic fibrous mass superior to the portal vein bifurcation)[cite: 481], absence of common bile duct.
- Also helps to exclude other obstructive causes like choledochal cyst.
**HIDA Scan (Hepatobiliary Iminodiacetic Acid Scintigraphy):** If the ultrasound is inconclusive. Lack of excretion of tracer into the bowel after 24 hours (even after phenobarbital pretreatment to stimulate bile flow) suggests complete biliary obstruction, highly indicative of biliary atresia.
**Other Tests to Exclude DDx (Congenital Infections, Metabolic Disorders):**
- TORCH screen (Toxoplasmosis, Other [Syphilis, Varicella], Rubella, Cytomegalovirus, Herpes simplex)[cite: 453, 458].
- Alpha-1 antitrypsin levels.
- Thyroid function tests.
- Urine for reducing substances.
**Liver Biopsy:** Often the gold standard, showing characteristic features like bile ductular proliferation, bile plugs in canaliculi, portal tract inflammation, and fibrosis.

What is a Kasai portoenterostomy, and how do you assess its success? What are the other causes for obstructive jaundice in this age group?

Kasai Portoenterostomy:

The Kasai portoenterostomy (or Kasai procedure) is the primary surgical treatment for biliary atresia. [cite_start]It is a palliative procedure, not a cure[cite: 498].
**Purpose:** To establish bile flow from the liver to the intestine, thereby reducing cholestasis and preventing further liver damage.
**Procedure:** It involves excising the atretic bile ducts up to the porta hepatis and then creating a Roux-en-Y limb of the small intestine, which is anastomosed directly to the liver at the porta hepatis. This allows bile to drain into the intestine.
**Scar:** The scar mentioned (15cm transverse upper abdominal scar) is typical of a Kasai procedure[cite: 464, 467, 497].

Assessing Kasai Success:

The success of a Kasai procedure is primarily judged by the establishment and maintenance of bile flow, leading to resolution or significant reduction of jaundice.

Resolution of Jaundice: The most important indicator. Total and direct bilirubin levels should decrease progressively post-surgery, with direct bilirubin ideally normalizing within a few months.
Return of Bile-Stained Stools: Stools should become yellow or green, indicating bile flow into the intestine.
Improvement in Liver Function Tests: Reduction in liver enzymes (AST, ALT) and GGT.
Improved Growth and Nutritional Status: Better bile flow aids fat absorption, improving weight gain and overall health.
Absence of Cholangitis: Frequent episodes of cholangitis suggest poor bile drainage.

The patient’s current presentation with deep icterus and hepatosplenomegaly despite the Kasai scar suggests that the procedure may not have been completely successful or that she has developed complications like cholangitis or progressive liver disease. [cite_start]The question “is this decompensated?” [cite: 503] further implies concern about the current state of liver function.

Other Causes for Obstructive Jaundice in this Age Group (Neonatal/Infancy):

**Choledochal Cyst:** A congenital dilatation of the bile ducts, causing obstruction. [cite_start]Can be differentiated by ultrasound[cite: 453, 458].
**Neonatal Hepatitis (Idiopathic Neonatal Hepatitis):** Inflammatory process of the liver, often viral or metabolic. Can be difficult to differentiate clinically from biliary atresia; diagnosis often relies on liver biopsy and HIDA scan. [cite_start]May present with fever, skin rash (though primary biliary atresia can also have these if complicated)[cite: 459, 460].
**Alagille Syndrome:** A genetic disorder affecting multiple systems, including intrahepatic bile ducts (paucity of bile ducts). [cite_start]May present with characteristic facial features, cardiac defects, vertebral anomalies, and eye abnormalities[cite: 458].
**Progressive Familial Intrahepatic Cholestasis (PFIC):** A group of genetic disorders leading to impaired bile secretion.
**Inspissated Bile Syndrome (Bile Plug Syndrome):** Thick bile obstructing the ducts, often associated with dehydration or hemolysis.
**Total Parenteral Nutrition (TPN)-associated Cholestasis.**
**Congenital Infections (TORCH infections):** Can cause liver inflammation and cholestasis[cite: 453, 458].
**Metabolic Disorders:** (e.g., galatosemia, tyrosinemia, alpha-1 antitrypsin deficiency).

What complications can the child develop after a Kasai procedure, and what should be asked in the history for this child?

Complications After Kasai Procedure:

**Cholangitis:** This is the most common and serious complication, an infection of the reconstructed bile ducts. It presents with fever, worsening jaundice, and acholic stools. [cite_start]It often requires urgent hospitalization and intravenous antibiotics[cite: 487, 499, 115].
**Progressive Liver Fibrosis and Cirrhosis:** Despite successful bile drainage, ongoing inflammatory processes can lead to progressive scarring of the liver, eventually resulting in cirrhosis and its complications.
**Portal Hypertension:** Increased pressure in the portal venous system due to liver fibrosis. This can lead to:
- **Splenomegaly:** Persistent or worsening.
- **Esophageal Varices:** Dilated veins in the esophagus, prone to rupture, causing **hematemesis** (vomiting blood) or melena[cite: 488]. This is a medical emergency.
- **Ascites:** Fluid accumulation in the abdomen.
- **Hypersplenism:** Leading to anemia, leukopenia, and thrombocytopenia.
**Growth Failure and Malnutrition:** Poor fat absorption (due to insufficient bile) and chronic liver disease contribute to malnutrition.
**Fat-soluble Vitamin Deficiencies (A, D, E, K):** Due to chronic cholestasis. Vitamin K deficiency can lead to coagulopathy and bleeding.
**Pruritus:** Severe itching due to accumulation of bile salts.
**Hepatic Encephalopathy:** In decompensated liver disease, affecting neurological function.
**Hepatopulmonary Syndrome or Portopulmonary Hypertension:** Pulmonary complications of liver disease.
**Hepatocellular Carcinoma:** Increased risk in the long term.

What to Ask in the History:

Given the Kasai scar and current presentation, the history should focus on:

**Current Symptoms:**
- Fever: Any spikes of fever, chills (suggestive of cholangitis)[cite: 459, 115].
- Jaundice: Any worsening, or previous resolution followed by recurrence[cite: 491].
- Stool Color: Are the stools still acholic or are they bile-stained? (Crucial for assessing Kasai success) [cite_start][cite: 507].
- Urine Color: Has it been dark?
- Bleeding Episodes: Any hematemesis, melena, epistaxis, or easy bruising (suggestive of variceal bleeding or coagulopathy)[cite: 488, 120].
- Abdominal Pain/Distension: Any new or worsening pain, or increasing abdominal girth (ascites)[cite: 465].
- Itching (Pruritus): Severity and impact on quality of life (due to bile salt retention)[cite: 120].
- Feeding and Growth: Is the child feeding well? Any weight loss or poor weight gain (failure to thrive).
- Respiratory Symptoms: Shortness of breath (hepatopulmonary syndrome).
**Post-Kasai Course:**
- Initial Post-op Jaundice Resolution: Did the jaundice clear after the Kasai procedure? If so, when did it recur?
- Frequency of Cholangitis Episodes: How often does the child get cholangitis, and how are they treated?
- Compliance with Medications: Are they on prophylactic antibiotics (common post-Kasai)? Are they receiving fat-soluble vitamin supplements?
**Surgical History Details:**
- Exact age at which Kasai procedure was performed (earlier surgery generally leads to better prognosis).
**Other Relevant Systems Review:**
- Neurological symptoms (encephalopathy).
- Skin changes (xanthomas).

How do you manage cholangitis in a child who underwent Kasai portoenterostomy?

Cholangitis is a medical emergency in children with biliary atresia post-Kasai. Prompt and aggressive management is crucial to preserve liver function and prevent further damage.

Management of Cholangitis:

Hospitalization: The child should be admitted to the hospital immediately.
Fluid and Electrolyte Management: Ensure adequate hydration, especially if febrile and unwell.
Empirical Broad-Spectrum Intravenous Antibiotics:
- This is the cornerstone of treatment. Antibiotics should cover common enteric pathogens (Gram-negative bacteria like E. coli, Klebsiella, Pseudomonas, and sometimes Gram-positive cocci).
- Common combinations include a third-generation cephalosporin (e.g., Ceftriaxone or Cefotaxime) with or without an aminoglycoside (e.g., Gentamicin) or Metronidazole.
- Antibiotic choice may be adjusted based on culture and sensitivity results from blood cultures or bile aspirates (if obtained).
- Duration is typically 7-14 days depending on severity and response.
Monitoring:
- Monitor vital signs (temperature, heart rate, blood pressure) closely.
- Assess for worsening jaundice, change in stool color.
- Monitor liver function tests (bilirubin, AST, ALT, GGT, ALP) and inflammatory markers (CRP, FBC).
- Monitor for signs of sepsis or shock.
Ursodeoxycholic Acid (UDCA):
- Continue or initiate UDCA to improve bile flow and reduce bile stasis, which may help prevent recurrent cholangitis.
Nutritional Support: Ensure adequate calorie and fat-soluble vitamin intake.
Consider Surgical Re-exploration: In rare cases of recurrent or severe, intractable cholangitis that do not respond to medical therapy, surgical re-exploration of the portoenterostomy may be considered to improve bile drainage, or in some cases, liver transplantation may become necessary.
Prophylactic Antibiotics: After an episode of cholangitis, continuous low-dose oral prophylactic antibiotics may be prescribed to prevent recurrence, sometimes for years.

What investigations would you do to confirm portal hypertension, and what other specific investigations are there for portal hypertension?

Portal hypertension is a common complication of progressive liver fibrosis/cirrhosis in biliary atresia. Investigations aim to confirm its presence and assess its severity and complications.

Investigations to Confirm Portal Hypertension:

Abdominal Ultrasound (USS) with Doppler:
- This is the first-line imaging.
- **Findings suggestive of portal hypertension:** Dilated portal vein, splenic vein, or superior mesenteric vein; presence of portosystemic collaterals (e.g., splenic varices, paraumbilical veins, gastroesophageal varices); absence or reversal of portal flow; splenomegaly[cite: 129].
Upper Gastrointestinal (GI) Endoscopy:
- The gold standard for directly visualizing and assessing esophageal and gastric varices (dilated veins that are prone to bleeding, causing hematemesis). This is crucial if there’s any suspicion of GI bleeding.
Liver Elastography (e.g., FibroScan):
- Non-invasive method to assess liver stiffness, which correlates with the degree of fibrosis and cirrhosis. Higher stiffness indicates more advanced fibrosis and likelihood of portal hypertension.
Platelet Count: Thrombocytopenia is common in portal hypertension due to hypersplenism.
Coagulation Profile (PT, INR, aPTT): May be deranged due to impaired synthetic function of the liver, increasing bleeding risk, especially from varices.

Other Specific Investigations for Portal Hypertension:

**Computed Tomography (CT) or Magnetic Resonance Imaging (MRI) Angiography:**
- Can provide more detailed anatomical information about the portal venous system, extent of collateral formation, and liver morphology.
**Hepatic Venous Pressure Gradient (HVPG):**
- This is an invasive procedure considered the gold standard for directly measuring portal pressure, usually reserved for specific clinical situations.

What are the possible causes of splenomegaly other than thalassemia, and what about if there is hepatomegaly only?

Causes of Splenomegaly (Isolated or with Hepatosplenomegaly):

**Infections:**
- **Viral:** Epstein-Barr Virus (EBV – infectious mononucleosis)[cite: 599, 574], Cytomegalovirus (CMV), HIV, Hepatitis viruses (A, B, C).
- **Bacterial:** Sepsis, Bacterial Endocarditis, Typhoid fever, Brucellosis, Tuberculosis.
- **Parasitic:** **Chronic Malaria**[cite: 44], Leishmaniasis (Kala-azar), Schistosomiasis.
- **Fungal:** Histoplasmosis.
**Hematological Disorders:**
- **Hemolytic Anemias:** Hereditary Spherocytosis, Sickle Cell Disease, G6PD deficiency, Autoimmune hemolytic anemia[cite: 571, 583].
- **Myeloproliferative Disorders:** Chronic Myeloid Leukemia.
- **Lymphoproliferative Disorders:** Lymphoma, Chronic Lymphocytic Leukemia.
- **Leukemia:** Acute and Chronic Leukemias[cite: 582].
- **Storage Diseases:** Gaucher disease, Niemann-Pick disease.
**Congestive Causes (Portal Hypertension):**
- Cirrhosis (any cause, e.g., biliary atresia, viral hepatitis, autoimmune hepatitis)[cite: 566].
- Portal vein thrombosis.
- Congestive heart failure.
**Immunological/Inflammatory Diseases:** Systemic Lupus Erythematosus (SLE), Juvenile Idiopathic Arthritis.
**Others:** Sarcoidosis, Amyloidosis.

Causes of Isolated Hepatosplenomegaly:

If there’s only hepatomegaly, the differential diagnosis shifts primarily towards liver-specific conditions, though some systemic diseases might cause it before splenomegaly is clinically apparent.

**Hepatomegaly Only:**
- **Infections:** Acute viral hepatitis (e.g., Hepatitis A, B, E), early stages of bacterial infections, abscess.
- **Metabolic Disorders:** Glycogen storage diseases (liver is predominantly affected), fatty liver (e.g., non-alcoholic fatty liver disease in obese children), lysosomal storage disorders.
- **Cardiac:** Congestive heart failure (right-sided heart failure causes liver congestion).
- **Infiltrative Diseases:** Early stages of leukemia or lymphoma.
- **Congenital Anomalies/Cysts:** Hepatic cysts, hemangiomas.
- **Toxins/Drugs:** Drug-induced liver injury.

Paediatric Short Cases

Abdomen Short Case – Hepatosplenomegaly and Pallor

Patient Summary

A 9-year-old girl presents with mild icterus, moderate splenomegaly, and pallor. Her liver is enlarged 2cm below the costal margin. She appears generally well, with a smooth and firm spleen.

What is your most probable diagnosis and what are your differential diagnoses for hepatosplenomegaly and pallor?

[cite_start]

The most probable diagnosis is a Hemolytic Anemia, with Thalassemia being the leading specific cause, especially given the context of previous cases[cite: 571, 572, 575]. The patient’s presentation with mild icterus, splenomegaly, and pallor strongly points towards a hemolytic process.

Differential Diagnoses for Hepatosplenomegaly and Pallor:

Hemolytic Anemias: [cite: 571]
- Thalassemia: Beta thalassemia major/intermedia is highly probable given the triad of pallor (anemia), icterus (hemolysis), and hepatosplenomegaly[cite: 571, 572, 575, 578, 579]. [cite_start]This is often a chronic condition[cite: 584].
- Hereditary Spherocytosis (HS): An inherited defect in red blood cell membrane leading to hemolysis. Often presents with pallor, jaundice, and splenomegaly. [cite_start]It is an autosomal dominant condition[cite: 148].
- Autoimmune Hemolytic Anemia (AIHA): An acquired condition where the immune system attacks red blood cells. [cite: 583]
- Other hemolytic anemias (e.g., G6PD deficiency, Sickle Cell Disease – though less likely in Sri Lankan context unless specific ethnic background).
Hematological Malignancies: [cite: 572, 582]
- Leukemia (especially Acute Lymphoblastic Leukemia or Acute Myeloid Leukemia): Can infiltrate the liver and spleen causing enlargement, and lead to pallor due to bone marrow suppression.
- Lymphoma: Can involve the liver and spleen.
Infections: [cite: 572]
- Chronic Malaria: Endemic in some parts of Sri Lanka, can cause significant splenomegaly and anemia.
- Infectious Mononucleosis (EBV): Often causes lymphadenopathy, hepatomegaly, and splenomegaly, with pallor if associated with anemia[cite: 599].
- HIV, CMV, Leishmaniasis.
- Bacterial sepsis or subacute bacterial endocarditis (less likely as a primary cause of chronic HSM).
Storage Diseases:
- Gaucher disease, Niemann-Pick disease: Rare genetic disorders causing accumulation of substances in reticuloendothelial cells, leading to HSM.
Portal Hypertension:
- Due to chronic liver disease (e.g., cirrhosis from various causes, including chronic viral hepatitis, metabolic liver disease). Splenomegaly is prominent, and pallor may be due to anemia of chronic disease or GI bleeding.

[cite_start]

The child appears well [cite: 586][cite_start], and the spleen is smooth and firm, suggesting a chronic condition[cite: 586, 587], which further supports thalassemia or hereditary spherocytosis over acute conditions like acute infections or aggressive malignancies.

How would you differentiate between an acute and chronic condition in this context?

Differentiating between acute and chronic hepatosplenomegaly is important for narrowing the differential diagnosis.

Features Differentiating Acute vs. Chronic Condition:

[cite_start] [cite_start] [cite_start] [cite_start] [cite_start] [cite_start] [cite_start]

Feature	Acute Condition (e.g., acute infection, acute leukemia)	Chronic Condition (e.g., thalassemia, chronic hemolytic anemia, chronic liver disease, chronic malignancy)
Duration of Symptoms	Short (days to a few weeks).	Long (months to years)[cite: 584].
General Appearance	Often acutely ill, distressed, febrile[cite: 351, 360].	May appear relatively well, adapted to chronic illness, often afebrile unless acutely exacerbated[cite: 586].
Spleen Characteristics	Often tender, rapidly enlarging, possibly soft initially, or hard if very congested[cite: 587]. May be very painful.	Firm, smooth, non-tender, gradually enlarging. [cite: 587]
Liver Characteristics	May be tender, soft/firm depending on cause.	Firm, non-tender, can be nodular in cirrhosis.
Associated Symptoms	Prominent acute symptoms like high fever, severe malaise, vomiting, acute pain.	Insidious onset, milder constitutional symptoms, chronic fatigue, growth retardation (especially height)[cite: 401], chronic jaundice.
Growth and Development	Usually normal prior to acute illness.	Often affected, especially if long-standing (e.g., failure to thrive, short stature)[cite: 17, 397, 107, 147, 401].

[cite_start]

In this patient, the “generally well” appearance, coupled with a smooth and firm spleen, points towards a chronic condition[cite: 586, 587].

What are the different types of hemolytic anemias you know, and what blood investigations would you do to diagnose them?

Types of Hemolytic Anemias:

Hemolytic anemias are characterized by premature destruction of red blood cells. They can be broadly classified into inherited and acquired, and further into intrinsic (defect within the red blood cell) or extrinsic (factors outside the red blood cell) causes.

Inherited (Intrinsic Defects):
- Membrane Defects: Hereditary spherocytosis[cite: 148], hereditary elliptocytosis.
- Enzyme Deficiencies: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, Pyruvate kinase deficiency.
- Hemoglobinopathies:
  - Thalassemias: Alpha and Beta thalassemia[cite: 395, 406, 410, 418, 571].
  - Sickle Cell Disease.
Acquired (Extrinsic Factors/Defects):
- Immune-Mediated:
  - Autoimmune Hemolytic Anemia (AIHA): Warm or cold antibody types[cite: 583].
  - Drug-induced immune hemolytic anemia.
  - Transfusion reactions.
  - Hemolytic Disease of the Newborn.
- Non-Immune-Mediated:
  - **Microangiopathic Hemolytic Anemia (MAHA):** Hemolytic Uremic Syndrome (HUS) [cite: 1723][cite_start], Thrombotic Thrombocytopenic Purpura (TTP)[cite: 1723].
  - Infections (e.g., Malaria[cite: 47], Clostridial sepsis).
  - Toxins (e.g., snake venom, lead).
  - Hypersplenism (e.g., portal hypertension, chronic infections)[cite: 498].
  - Mechanical heart valves.

Blood Investigations to Diagnose Hemolytic Anemias:

Full Blood Count (FBC) & Blood Picture (Peripheral Smear):
- Anemia: Varying degrees depending on severity.
- Reticulocytosis: Increased reticulocyte count (immature red blood cells) is a key indicator of increased red blood cell production in response to hemolysis[cite: 148].
- Red Cell Morphology: Specific shapes can indicate underlying causes (e.g., spherocytes in HS, target cells in thalassemia, sickle cells in SCD, schistocytes in MAHA).
- Other cell line abnormalities might suggest malignancy (e.g., blasts in leukemia)[cite: 148].
Lactate Dehydrogenase (LDH): Elevated due to red blood cell breakdown.
Indirect Bilirubin: Elevated due to increased hemoglobin breakdown.
Haptoglobin: Decreased (it binds to free hemoglobin, and is consumed during hemolysis).
Direct Antiglobulin Test (DAT) / Coombs Test:
- **Positive DAT:** Confirms immune-mediated hemolysis (e.g., AIHA, transfusion reactions). [cite: 1911]
- **Negative DAT:** Suggests non-immune hemolytic anemia (e.g., HS, G6PD, thalassemia, TTP, HUS).
Specific Tests Based on Suspected Cause:
- Hemoglobin Electrophoresis (HPLC/Capillary Electrophoresis): For hemoglobinopathies like thalassemia [cite: 404, 1605, 1606] and sickle cell disease.
- Osmotic Fragility Test: For hereditary spherocytosis.
- G6PD Assay: For G6PD deficiency.
- Genetic Testing: For specific inherited disorders.
- Bone Marrow Biopsy: May be indicated if malignancy or bone marrow infiltration is suspected[cite: 148].

Paediatric Short Cases

Abdomen Short Case – Isolated Splenomegaly

Patient Summary

An 11-year-old girl presents with isolated splenomegaly. She is febrile, not pale, and has no peripheral signs of chronic liver disease (CLCD) or dysmorphic features. On examination, 3-4 cervical lymph nodes are noted on the left side, which are non-tender, not matted, and 1-1.5cm in size.

What is your diagnosis and what are your differential diagnoses for isolated splenomegaly?

[cite_start]

Given the isolated splenomegaly, fever, and non-tender lymphadenopathy, the most probable diagnosis is Infectious Mononucleosis (IMN) caused by the Epstein-Barr Virus (EBV)[cite: 599].

Differential Diagnoses (DDs) for Isolated Splenomegaly:

Isolated splenomegaly (without significant hepatomegaly or other major organ involvement) is common and has a wide range of causes:

Infections:
- Viral: Epstein-Barr Virus (EBV – Infectious Mononucleosis) [cite: 599][cite_start], Cytomegalovirus (CMV), HIV, Acute viral hepatitis (in resolving phase)[cite: 574].
- Bacterial: Typhoid fever, Brucellosis, Subacute Bacterial Endocarditis.
- Parasitic: **Chronic Malaria**[cite: 47, 592], Leishmaniasis (Kala-azar), Schistosomiasis.
Hematological Disorders:
- Hemolytic Anemias: Hereditary Spherocytosis, Thalassemia Intermedia, Autoimmune Hemolytic Anemia. These may present with pallor and mild icterus, but the emphasis in this case is “isolated” splenomegaly and “not pale”.
- Myeloproliferative Disorders: Early Chronic Myeloid Leukemia.
- Lymphoproliferative Disorders: Lymphoma (especially non-Hodgkin lymphoma), Chronic Lymphocytic Leukemia.
- Leukemia: Acute leukemias can present with splenomegaly, but usually also have other signs of bone marrow failure (pallor, bruising, fever) and often hepatomegaly.
Congestive Causes:
- Early Portal Hypertension (e.g., portal vein thrombosis) before significant liver involvement.
Immunological/Inflammatory Conditions:
- Systemic Lupus Erythematosus (SLE), Juvenile Idiopathic Arthritis.
Storage Diseases:
- Early Gaucher disease, Niemann-Pick disease. (These typically progress to hepatosplenomegaly).

How would you diagnose Infectious Mononucleosis (IMN)?

Diagnosis of Infectious Mononucleosis (IMN) is primarily based on a combination of clinical features and specific laboratory tests.

Diagnostic Approach for IMN:

Clinical Suspicion:
- Classic Triad: Fever, pharyngitis (sore throat), and lymphadenopathy (especially cervical). Splenomegaly is also very common.
- General malaise, fatigue, headache, myalgia.
Laboratory Tests:
- Full Blood Count (FBC) & Blood Picture:
  - Lymphocytosis: Absolute lymphocytosis, often $>50\%$ lymphocytes.
  - Atypical Lymphocytes: Presence of $>10\%$ atypical lymphocytes on peripheral smear is highly characteristic. These are enlarged, irregular lymphocytes.
  - Thrombocytopenia or neutropenia can sometimes occur.
- Monospot Test (Heterophile Antibody Test):
  - A rapid agglutination test for heterophile antibodies, which are typically produced during EBV infection.
  - It is specific but may be negative in young children (especially under 4 years of age) and early in the course of illness. Sensitivity increases with age and duration of illness.
- EBV-Specific Serology:
  - **IgM for EBV Viral Capsid Antigen (VCA-IgM):** This is the most reliable test for acute or recent EBV infection[cite: 600]. It appears early in the infection and persists for a few months.
  - IgG for EBV Viral Capsid Antigen (VCA-IgG): Appears shortly after VCA-IgM and persists for life, indicating past infection.
  - EBV Nuclear Antigen (EBNA-IgG): Appears later in the infection (3-6 weeks after onset) and persists for life, indicating past infection.
- Liver Function Tests (LFTs): Mildly elevated transaminases (AST, ALT) are common.

Paediatric Short Cases

Abdomen Short Case – Distended Abdomen with Dilated Veins and Clubbing

Patient Summary

A 1-year 4-month-old boy presents with deep icterus, generalized distended abdomen with dilated veins, and grade 4 clubbing. On examination, hepatosplenomegaly and palmar erythema are noted. He is currently asleep.

What is your most probable diagnosis, and why are you concerned about liver biopsy in this patient?

[cite_start]

Based on the patient’s presentation, the most probable diagnosis is Chronic Liver Disease (CLCD) with decompensation and portal hypertension. [cite: 519, 520, 521]

Justification for Diagnosis:

Deep Icterus: Suggests significant liver dysfunction and impaired bilirubin excretion. [cite: 517, 544]
Distended Abdomen with Dilated Veins: Highly indicative of ascites and portal hypertension. [cite: 520, 546]
Hepatosplenomegaly: Common in CLCD due to inflammation, fibrosis, and portal hypertension. [cite: 521, 550]
Grade 4 Clubbing and Palmar Erythema: Classic peripheral stigmata of CLCD. [cite: 519, 545] Grade 4 clubbing is severe, indicating long-standing hypoxemia or chronic liver disease.
Age (1 year 4 months): This presentation suggests an acquired or congenital chronic liver condition that has progressed over time.

Concerns about Liver Biopsy:

A liver biopsy is often crucial for confirming the specific cause of CLCD and assessing the stage of fibrosis. However, in this patient, there are significant concerns:

Coagulopathy: Chronic liver disease often leads to impaired synthesis of clotting factors, resulting in coagulopathy. [cite: 529, 553] Performing an invasive procedure like a liver biopsy in a patient with coagulopathy carries a high risk of severe bleeding.
Portal Hypertension: The presence of dilated abdominal veins suggests portal hypertension, which further increases the risk of bleeding during a liver biopsy due to engorged collateral vessels.

What investigations would you do to assess coagulopathy and how would you correct it prior to a procedure?

[cite_start]

Assessing and correcting coagulopathy is paramount before any invasive procedure like a liver biopsy in this patient. [cite: 529, 553]

Investigations to Assess Coagulopathy:

Prothrombin Time (PT) and International Normalized Ratio (INR): These are the most important tests to assess the extrinsic pathway and common pathway of coagulation, reflecting the synthesis of vitamin K-dependent clotting factors by the liver. [cite_start]Prolonged PT/elevated INR indicate impaired liver synthetic function. [cite: 530, 555]
Activated Partial Thromboplastin Time (aPTT): To assess the intrinsic and common pathways.
Platelet Count: Thrombocytopenia is common in CLCD due to hypersplenism (sequestration of platelets in the enlarged spleen) and reduced thrombopoietin production. [cite: 558]
Fibrinogen Levels: May be reduced in severe liver disease.
Viscoelastic Hemostatic Assays (e.g., ROTEM or TEG): These are advanced tests that provide a global assessment of clot formation, strength, and lysis. [cite_start]They are ideally used to guide transfusion decisions in patients with complex coagulopathies, offering a more comprehensive picture than standard coagulation tests. [cite: 530, 555]

Correction of Coagulopathy Prior to Procedure:

Correction should be guided by laboratory results and the urgency of the procedure.

Vitamin K: If PT/INR is prolonged due to vitamin K deficiency (which can occur in cholestatic liver disease due to malabsorption of fat-soluble vitamins), parenteral vitamin K should be administered.
Fresh Frozen Plasma (FFP): Contains all clotting factors. [cite_start]Given to correct prolonged PT/INR and aPTT, especially if the patient is actively bleeding or before an invasive procedure. [cite: 532, 557]
Platelet Transfusion: Given if the platelet count is critically low (e.g., <50,000/microL or higher depending on the procedure and bleeding risk).
Cryoprecipitate: If fibrinogen levels are very low.

Is this patient’s liver disease decompensated? What are the other features of decompensation?

[cite_start]

Yes, this patient’s liver disease appears to be decompensated. [cite: 536, 559]

Indicators of Decompensation in this Patient:

Deep Icterus: Suggests severe impairment of bilirubin excretion. [cite: 517, 544]
Ascites (Distended Abdomen with Dilated Veins): This is a clear sign of portal hypertension and inability of the liver to synthesize enough albumin and regulate fluid balance. [cite: 520, 546]
Palmar Erythema and Clubbing: These peripheral stigmata indicate chronic severe liver disease and systemic manifestations. [cite: 519, 545]

Other Features of Decompensation in Chronic Liver Disease:

Variceal Bleeding: Hematemesis (vomiting blood) or melena (black, tarry stools) due to rupture of esophageal or gastric varices (a consequence of portal hypertension).
Hepatic Encephalopathy: Neurological dysfunction due to accumulation of toxins (e.g., ammonia) that the liver cannot metabolize. Presents with altered consciousness, confusion, asterixis (flapping tremor), and behavioral changes.
Spontaneous Bacterial Peritonitis (SBP): Infection of the ascitic fluid without an obvious source, common in severe ascites. Presents with fever, abdominal pain, and worsening ascites.
Hepatorenal Syndrome: Progressive renal failure in patients with advanced liver disease, in the absence of primary renal pathology.
Hepatopulmonary Syndrome: Triad of liver disease, hypoxemia, and intrapulmonary vascular dilatations. Presents with dyspnea, especially orthodeoxia (worsening hypoxemia when upright).
Growth Failure: Significant impact on weight and height, especially with worsening disease.

What is the confirmatory investigation for chronic liver disease, and what is your concern regarding it?

[cite_start]

The definitive confirmatory investigation for chronic liver disease is usually a **liver biopsy**. [cite: 527, 552]

Concern Regarding Liver Biopsy:

[cite_start]

As discussed previously, the primary concern with performing a liver biopsy in this patient is the significant risk of **coagulopathy**. [cite: 529, 553] Patients with severe CLCD have impaired synthesis of clotting factors, predisposing them to bleeding. The presence of portal hypertension (indicated by ascites and dilated veins) further increases the risk of bleeding from engorged collateral vessels during the procedure. [cite_start]Therefore, thorough assessment and correction of coagulopathy are essential before considering a liver biopsy. [cite: 530, 555]

What would you expect to find on examination of the genitalia in a child with CLCD, and what specific investigations for portal hypertension would you perform?

Expected Findings on Genitalia Examination:

In a child with chronic liver disease, especially if long-standing or severe, delayed sexual maturation or hypogonadism can occur due to impaired liver function affecting hormone metabolism and synthesis. Therefore, one might expect:

Delayed Pubertal Development: If the child is older (pubertal age), assessment of Tanner staging would be important. This includes assessing pubic hair, breast development (in girls), and genital development (in boys). Given this child is 1 year 4 months, pubertal delay is not yet relevant. However, in older children with CLCD, arrested or delayed puberty is a common concern.

Specific Investigations for Portal Hypertension:

Beyond the general findings, these investigations directly assess the presence and severity of portal hypertension:

Abdominal Ultrasound (USS) with Doppler:
- This is the first-line investigation for portal hypertension.
- It assesses the caliber and flow direction of the portal vein, splenic vein, and superior mesenteric vein.
- It can detect the presence of portosystemic collateral vessels (e.g., splenic varices, recanalized umbilical vein, gastroesophageal varices).
- It also assesses the size of the spleen (splenomegaly).
Upper Gastrointestinal (GI) Endoscopy:
- This is crucial for direct visualization and assessment of esophageal and gastric varices, which are dilated veins that can bleed massively.
- It allows for grading of varices and can guide prophylactic treatment (e.g., band ligation).
Liver Elastography (e.g., FibroScan):
- A non-invasive method to measure liver stiffness, which correlates with the degree of liver fibrosis and cirrhosis, a major cause of portal hypertension.
Platelet Count:
- Often reduced (thrombocytopenia) in portal hypertension due to hypersplenism (sequestration of platelets in the enlarged spleen). [cite_start]This is a common and indirect indicator. [cite: 558]

Paediatric Short Cases

Neuro Short Case – Spastic Quadriplegic Cerebral Palsy

Patient Summary

A 4-year-old boy presents with difficulty walking. On examination of his lower limbs, he exhibits bilateral hypertonia and contractures at the knee and ankle joints, with exaggerated reflexes and upgoing plantar responses. His upper limbs also show spasticity, although less pronounced. His occipitofrontal circumference (OFC) is noted to be microcephalic. He has a history of abnormal, choreoathetoid movements, which are reportedly less severe with medication. [cite_start]He also has a squint, and a Percutaneous Endoscopic Gastrostomy (PEG) tube is in situ. [cite: 614, 615, 618, 633, 635, 659, 682, 691, 693, 698, 715, 727, 735, 738, 743, 749, 754, 766, 780]

What is your diagnosis, and how do you differentiate between spastic quadriplegic and spastic diplegic cerebral palsy?

[cite_start]

Based on the findings, the diagnosis is Spastic Quadriplegic Cerebral Palsy (CP). [cite: 614, 618, 630, 633, 659, 682, 693, 708, 715, 766, 780]

Differentiation:

The key to differentiating between types of spastic CP lies in the distribution of muscle tone and weakness:

Spastic Quadriplegic CP: [cite: 614, 618, 630, 633, 659, 682, 693, 708, 715, 766, 780]
- Involvement: Affects all four limbs (both upper and lower limbs), and often the trunk and bulbar muscles.
- Upper Limbs: Spasticity and weakness are clearly evident in the upper limbs, although they might be less severe than in the lower limbs. [cite: 725, 749, 768, 118]
- Speech/Swallowing: Often associated with severe speech difficulties (dysarthria) and swallowing problems (dysphagia), which may necessitate a PEG tube. [cite: 615, 618, 634]
- Cognitive Impairment: Higher likelihood of severe intellectual disability and seizures.
- Head Circumference: Often associated with microcephaly. [cite: 618, 654, 691, 775]
Spastic Diplegic CP: [cite: 651, 666, 676, 696, 729, 737, 745, 751, 757, 762, 779]
- Involvement: Primarily affects the lower limbs, with little or no involvement of the upper limbs. [cite: 653, 736, 768]
- Upper Limbs: Reflexes and power in the upper limbs are typically normal or minimally affected. [cite: 653, 736]
- Gait: Characterized by “scissoring gait” (legs cross over each other), tip-toe walking, and circumduction gait. [cite: 652, 747, 758, 759]
- Cognition: Generally associated with better cognitive outcomes compared to quadriplegic CP. [cite: 695]
- Head Circumference: Often normal. [cite: 668]

[cite_start]

In this patient, the explicit mention of spasticity in **both** upper and lower limbs, even if less pronounced in the upper limbs[cite: 749, 150], confirms it as quadriplegic CP. [cite_start]The presence of a PEG tube also points towards significant generalized neurological impairment affecting swallowing. [cite: 615, 618, 634]

What are the common causes of Cerebral Palsy, and specifically for spastic diplegic CP? What about the abnormal movements?

Common Causes of Cerebral Palsy (CP):

[cite_start]

CP results from a non-progressive lesion or abnormality in the developing brain, occurring prenatally, perinatally, or postnatally. [cite: 655, 679]

Prenatal (most common):
- In-utero causes: Cerebral dysgenesis (brain malformations), intrauterine infections (e.g., TORCH infections), maternal medical conditions (e.g., severe pre-eclampsia, thyroid disorders, diabetes), genetic disorders, stroke. [cite: 655]
- Often idiopathic.
Perinatal (during birth):
- Hypoxic-Ischemic Encephalopathy (HIE): Lack of oxygen or blood flow to the brain around the time of birth, a very common cause. [cite: 662, 686, 702]
- Intracranial hemorrhage (e.g., intraventricular hemorrhage in preterm infants).
- Severe neonatal jaundice (kernicterus). [cite: 700]
Postnatal (after birth, usually first few years):
- Severe head injury.
- Central nervous system infections (e.g., meningitis, encephalitis).
- Severe dehydration or electrolyte imbalance.
- Stroke.

Specific Causes for Spastic Diplegic CP:

[cite_start]

Spastic diplegic CP is most commonly associated with **prematurity**, particularly extreme prematurity. [cite: 669]

Periventricular Leukomalacia (PVL): This is the most frequent cause. PVL is a type of brain injury characterized by damage to the white matter (specifically around the ventricles) due to ischemia or inflammation, common in premature infants. [cite_start]The nerve tracts controlling the lower limbs run close to the ventricles, making them more vulnerable in PVL, leading to diplegic presentation. [cite: 734, 118]
Other causes include intraventricular hemorrhage.

Abnormal Movements (Choreoathetoid Movements):

[cite_start]

Choreoathetoid movements are involuntary, continuous, irregular, jerky movements that flow from one muscle to another. [cite: 635, 698]

Causes: These are characteristic of **dyskinetic CP**, a type of CP resulting from damage to the basal ganglia. [cite_start]The most common cause of dyskinetic CP (and thus choreoathetoid movements) is kernicterus (severe hyperbilirubinemia in neonates causing bilirubin deposition in the basal ganglia). [cite: 700]
These movements may also occur in severe HIE or other conditions affecting the basal ganglia.

What is the significance of microcephaly in CP, and how would you assess OFC in a child?

Significance of Microcephaly in CP:

Indication of Brain Damage: Microcephaly (a head circumference significantly below normal for age and sex) in a child with CP suggests that the underlying brain lesion occurred early in development or was extensive enough to impair normal brain growth. [cite: 618, 654, 668, 691, 775]
Association with Severity: It is generally associated with more severe forms of CP, particularly spastic quadriplegia, and a higher likelihood of significant intellectual disability and other neurological impairments (e.g., seizures). [cite: 695]
Prognostic Indicator: Microcephaly can be a poor prognostic indicator for cognitive outcomes.

How to Assess OFC in a Child:

Method: Use a non-stretchable measuring tape. Place the tape firmly around the widest part of the head, typically just above the eyebrows anteriorly and around the occipital protuberance posteriorly.
Measurement: Read the measurement to the nearest 0.1 cm. Repeat 2-3 times to ensure accuracy and consistency.
Plotting: Plot the measurement on an age- and sex-appropriate growth chart (e.g., WHO growth charts or specific charts for children with CP if available). This allows for comparison with population norms and assessment of growth trajectory.
Interpretation:
- Microcephaly: OFC falls below the 2nd or 3rd percentile (or 2 standard deviations below the mean) for age and sex. [cite: 689]
- Normal OFC: OFC falls within the normal range (e.g., between 2nd and 98th percentile).

What are the main goals and components of long-term management for a child with Spastic Quadriplegic CP, and what specific drugs are used?

Management of Spastic Quadriplegic CP is multidisciplinary, lifelong, and focused on maximizing the child’s functional abilities, improving quality of life, preventing complications, and supporting the family.

Goals of Management:

Optimize motor function and prevent deformities.
Enhance communication and cognitive development.
Promote independence and participation in daily activities.
Manage associated conditions (e.g., seizures, feeding difficulties).
Support family and provide education.

Components of Long-Term Management (MDT Approach):

Physiotherapy (PT): To improve muscle strength, range of motion, prevent contractures, and facilitate mobility. [cite: 740, 60]
Occupational Therapy (OT): To improve fine motor skills, activities of daily living (ADLs), and provide adaptive equipment. [cite: 740, 60]
Speech and Language Therapy (SLT): To address communication (verbal and non-verbal) and feeding/swallowing difficulties. [cite: 60]
Nutritional Support: (e.g., via PEG tube for severe dysphagia) to ensure adequate calorie and nutrient intake for growth and development. [cite: 634]
Orthopedic Management:
- Splinting/Bracing: To maintain joint range of motion and prevent contractures.
- Orthopedic Surgery: For severe contractures, deformities, or gait improvement (e.g., tendon lengthening, osteotomies).
Pharmacological Management:
- Anti-spasticity medications:
  - Oral medications: Baclofen, Diazepam, Tizanidine (for generalized spasticity).
  - Botulinum Toxin Injections (Botox): Injected into specific spastic muscles to reduce tone and improve range of motion, particularly useful for contractures. [cite: 754]
  - Intrathecal Baclofen Pump: For severe, generalized spasticity unresponsive to oral medications.
- Medications for Dystonia/Abnormal Movements:
  - Benzhexol (Trihexyphenidyl): Can reduce dystonic movements. [cite: 665, 685]
- Antiepileptic Drugs (AEDs): If seizures are present.
- Medications for Gastric Reflux/Constipation: Common with feeding difficulties and immobility.
Ophthalmology: Management of squint (strabismus) and other visual impairments. [cite: 727, 738, 744, 150]
Neurodevelopmental Follow-up: Regular assessment of cognitive function and overall development.
Social Support & Counseling: For parents and family regarding the child’s condition, available resources, and long-term care.

[cite_start]

Assessing if the child is “well managed” involves looking for controlled symptoms, good growth, prevention of severe contractures, participation in activities, and the use of appropriate assistive devices. [cite: 711, 150]

What other systems can be affected due to Cerebral Palsy, and how is the child’s intellectual level assessed?

Other Systems Affected Due to Cerebral Palsy (CP):

[cite_start]

CP can have widespread effects beyond motor function, impacting multiple body systems due to the underlying brain damage and associated complications. [cite: 712]

Gastrointestinal System:
- Feeding Difficulties/Dysphagia: Common due to poor oral motor control, leading to aspiration risk, poor growth, and requiring interventions like a PEG tube. [cite: 634]
- Gastroesophageal Reflux (GER): Often exacerbated by spasticity and feeding difficulties.
- Constipation: Due to immobility, low fiber diet, and medications.
Respiratory System:
- Recurrent Aspiration Pneumonia: Due to dysphagia and GER.
- Chronic Lung Disease: From repeated infections or poor chest wall mechanics.
Nutritional Status:
- Failure to Thrive/Malnutrition: Due to feeding difficulties, increased metabolic demands, or poor absorption.
Musculoskeletal System:
- Contractures and Deformities: Fixed shortening of muscles and joints (e.g., knee and ankle contractures), leading to scoliosis, hip dislocation, and foot deformities (e.g., talipes equinovarus). [cite: 744, 754, 784]
- Osteopenia/Osteoporosis: Due to immobility and nutritional deficiencies, increasing fracture risk.
Genitourinary System:
- Neurogenic Bladder: Bladder dysfunction (incontinence, urinary retention) leading to recurrent UTIs. [cite_start]Often seen with spinal dysraphism (e.g., spina bifida). [cite: 629, 646]
Vision:
- Squint (Strabismus): Misalignment of the eyes, common in CP. [cite: 727, 738, 744, 150]
- Refractive errors, cortical visual impairment.
Hearing: Hearing impairment can occur.
Dental Health: Increased risk of dental caries due to poor oral hygiene and abnormal movements.
Integumentary System: Pressure sores due to immobility.

Assessment of Child’s Intellectual Level (IQ):

[cite_start]

Assessing cognitive function in children with CP can be challenging, especially in those with severe motor impairments or communication difficulties. [cite: 713]

Formal Neurodevelopmental Assessment: This involves standardized tests administered by a developmental pediatrician, clinical psychologist, or neuropsychologist. These tests evaluate various domains, including:
- Cognitive abilities (e.g., problem-solving, reasoning, memory).
- Language (receptive and expressive).
- Adaptive behavior (daily living skills).
Clinical Observation: Observing the child’s interaction, understanding of commands, and problem-solving skills in different settings provides valuable qualitative information.
Parental Report: Parents can provide crucial insights into the child’s abilities and understanding in their natural environment.
Use of Communication Aids: For children with severe speech impairment, alternative and augmentative communication (AAC) devices can help assess their cognitive abilities.

[cite_start]

It’s important to note that a child’s motor impairment does not always correlate with their cognitive ability; some children with severe CP may have normal or near-normal intelligence, while others may have significant intellectual disability. [cite: 695]

Paediatric Short Cases

Neonatal Short Case – Common Neonatal Findings

Patient Summary

A 5-day-old baby boy is brought for a routine neonatal examination. On inspection, small whitish spots are noted on his nose, and some red blotches appear on his trunk and limbs. A bluish patch is observed on his lower back. A small, firm swelling is present on his scalp, localized to one parietal bone. During examination, the left testis is not palpable in the scrotum. A small, firm, non-tender mass is also felt in the lower third of his left sternocleidomastoid muscle.

What are the positive findings in this baby, and are they benign or malignant conditions?

The positive findings observed in this baby are common and generally benign transient neonatal conditions:

Milia: Small whitish spots on the nose. These are keratin plugs in sebaceous glands.
Erythema Toxicum Neonatorum: Red blotches on the trunk and limbs. These are benign, transient erythematous macules and papules, sometimes with vesicles or pustules.
Mongolian Blue Spot (Dermal Melanocytosis): A bluish patch on the lower back. These are benign congenital dermal melanocytoses.
Cephalohematoma: A small, firm swelling on the scalp localized to one parietal bone. This is a collection of blood between the skull bone and its periosteum, usually caused by birth trauma. It does not cross suture lines.
Left Undescended Testis (Cryptorchidism): The left testis is not palpable in the scrotum. This is a common finding, especially in premature boys, and may descend spontaneously.
Sternocleidomastoid Tumor (Congenital Muscular Torticollis): A small, firm, non-tender mass in the lower third of the left sternocleidomastoid muscle. This is usually due to fibrotic changes in the muscle, possibly from birth trauma, leading to torticollis (head tilt) if severe.

All of these conditions are generally **benign**. They are not malignant and usually resolve spontaneously or with conservative management.

How would you manage these findings, and what would you tell the mother regarding them?

For most of these findings, the management is primarily reassurance and observation. This is a crucial part of counselling the parents.

Management and Parental Counselling:

Milia:
- Management: No specific treatment needed.
- Counselling: Explain that these are tiny, harmless spots that are very common in newborns and will disappear on their own within a few weeks, usually without leaving any marks. Advise against squeezing or scrubbing them.
Erythema Toxicum Neonatorum:
- Management: No treatment required.
- Counselling: Reassure the mother that these red blotches are a normal skin rash of newborns, completely harmless, not infectious, and will fade away spontaneously within a few days to a week. Advise against applying any creams or powders. They are benign, not malignant. You should strongly advise against giving any medications for this.
Mongolian Blue Spot:
- Management: No treatment needed.
- Counselling: Explain that this is a type of birthmark, very common in babies with darker skin tones, and is not a bruise or a sign of illness. It usually fades by school age but can sometimes persist into adulthood. Reassure them that it is entirely harmless.
Cephalohematoma:
- Management: Usually resolves spontaneously over weeks to months. Avoid aspiration as it increases risk of infection.
- Counselling: Explain that it’s a collection of blood from the birth process, that it’s not dangerous to the brain, and it will gradually disappear. Mention that it might feel firmer as it resolves. Advise monitoring for any signs of infection (redness, pus).
Undescended Testis (Cryptorchidism):
- Management: For full-term infants, spontaneous descent often occurs within the first 6 months of life. If still undescended by 6 months, referral to a pediatric surgeon or urologist is necessary for consideration of orchidopexy (surgery to bring the testis down) by 12-18 months.
- Counselling: Explain that one testis has not yet descended into the scrotum, which is common. Reassure them that it often descends on its own in the first few months. Emphasize the importance of follow-up to ensure descent, as early correction is important for future fertility and reducing cancer risk if it does not descend naturally.
Sternocleidomastoid Tumor:
- Management: Typically managed with gentle daily stretching exercises and physiotherapy to prevent fixed torticollis. Most resolve spontaneously within the first year.
- Counselling: Explain that it’s a small lump in the neck muscle, likely due to a minor injury during birth, and it’s not cancerous. Demonstrate stretching exercises to encourage muscle lengthening and prevent head tilting. Advise regular follow-up to monitor progress.

What are other reflexes you would check in a neonate, and when do specific reflexes like suckling appear?

During a neonatal examination, in addition to assessing for tone and spontaneous movements, several primitive reflexes are checked to assess neurological integrity.

Other Reflexes to Check in a Neonate:

Moro Reflex (Startle Reflex): Appears at birth, disappears by 3-6 months. Elicited by suddenly letting the infant’s head fall back a short distance, causing symmetrical abduction and extension of arms, followed by adduction and flexion. An asymmetrical Moro reflex can indicate injury (e.g., clavicle fracture, brachial plexus injury).
Rooting Reflex: Appears at birth, disappears by 4 months. Stroking the corner of the infant’s mouth causes the head to turn towards the stimulated side, with the mouth opening.
Sucking Reflex: Present at birth. Elicited by placing a finger or nipple in the infant’s mouth, causing rhythmic sucking.
Palmar Grasp Reflex: Appears at birth, disappears by 5-6 months. Pressure on the infant’s palm causes a strong grasp.
Plantar Grasp Reflex: Appears at birth, disappears by 9-12 months. Pressure on the ball of the infant’s foot causes the toes to curl.
Asymmetrical Tonic Neck Reflex (ATNR) / Fencing Reflex: Appears at 1 month, disappears by 4-6 months. When the infant’s head is turned to one side, the arm and leg on that side extend, while the opposite arm and leg flex.
Stepping/Walking Reflex: Appears at birth, disappears by 2 months. Holding the infant upright with feet touching a surface causes alternating stepping movements.

Appearance of Suckling Reflex:

The **suckling reflex** is present at **birth** (or by 32 weeks gestation). It is a vital reflex for feeding and survival in neonates.

Paediatric Short Cases

RS Short Case – Left-sided Pleural Effusion

Patient Summary

A 10-year-old febrile girl presents with respiratory distress. On examination of the respiratory system, there is reduced air entry and dullness to percussion over the left lower and middle zones. Her trachea appears central. A cannula is in situ.

What is your diagnosis and what are the possible causes for this presentation?

Based on the clinical findings of fever, respiratory distress, reduced air entry, and dullness to percussion over the left lower and middle zones, the diagnosis is Left-sided Pleural Effusion, likely parapneumonic.

Possible Causes of Pleural Effusion in Children:

Infectious Causes (most common):
- Parapneumonic Effusion: This is an effusion associated with pneumonia. It can be simple (sterile exudate), complicated (fibrinopurulent exudate, with or without bacteria), or empyema (frank pus in the pleural space). Common causative microorganisms include:
  - **Bacterial:** Streptococcus pneumoniae, Staphylococcus aureus (especially after viral infections like influenza), Haemophilus influenzae type b, Group A Streptococcus.
  - **Mycoplasma pneumoniae**.
- **Tuberculosis (TB):** Pleural effusion can occur in primary TB. This would be a delayed type hypersensitivity reaction. A BCG scar should be checked.
- Viral infections (less common to cause significant effusion).
Malignancy:
- Lymphoma (e.g., Non-Hodgkin Lymphoma), Leukemia.
- Neuroblastoma, Wilms tumor (metastatic).
Connective Tissue Diseases: Systemic Lupus Erythematosus (SLE), Juvenile Idiopathic Arthritis.
Cardiac Causes: Congestive Heart Failure (usually bilateral, transudative).
Renal Causes: Nephrotic Syndrome (bilateral, transudative due to hypoalbuminemia).
Trauma: Hemothorax or chylothorax.
Subdiaphragmatic Abscess.

How would you confirm the diagnosis and what are the expected clinical findings of pleural effusion?

Confirmation of Diagnosis:

The diagnosis of pleural effusion is initially suspected clinically and confirmed by imaging and, if indicated, diagnostic aspiration.

Chest X-ray (CXR): A standard CXR will show blunting of the costophrenic angle (with >175 mL fluid) or opacification of the lower lung fields. A lateral decubitus view (patient lying on the affected side) can detect smaller effusions and demonstrate fluid mobility.
Ultrasound (US) of the Thorax: This is highly sensitive for detecting effusions, distinguishing fluid from consolidation, quantifying the volume, and identifying septations (suggesting complicated effusion/empyema). It also guides thoracentesis.
CT Chest: Provides detailed anatomical information, especially useful for complex effusions, loculations, or underlying lung pathology.
Pleural Fluid Analysis (after diagnostic pleural tap): If a significant effusion is present, especially if symptomatic or suspected to be complicated:
- **Gross appearance:** Serous, purulent (pus), bloody, chylous.
- **Biochemistry:** Protein, LDH, glucose (Light’s criteria to differentiate exudate vs. transudate).
- **Cell Count and Differential:** Total cells, neutrophils, lymphocytes.
- **Microbiology:** Gram stain, bacterial culture & sensitivity, TB smear and culture (if TB suspected).
- **Cytology:** If malignancy is suspected.

Expected Clinical Findings of Pleural Effusion:

Inspection: Reduced chest wall movement on the affected side.
Palpation:
- **Reduced or absent tactile vocal fremitus (TVF):** Due to the fluid separating the lung from the chest wall.
- Trachea may be **deviated away from the affected side** if the effusion is massive and causing mediastinal shift. However, in this case, the trachea is central, suggesting the effusion is not massive or there are counterbalancing forces (e.g., atelectasis).
Percussion: **Stony dullness** over the effusion. This is a classic sign.
Auscultation:
- **Reduced or absent breath sounds:** Over the effusion.
- **Bronchial breath sounds:** May be heard just above the effusion (at the upper border).
- **Pleural rub:** May be heard early in the course if pleural surfaces are inflamed.
- **Reduced vocal resonance**.
Associated Symptoms: Dyspnea (respiratory distress), cough, pleuritic chest pain.

Could this effusion be due to Tuberculosis, and what stages of primary TB can cause it? Will you drain the effusion?

Could this Effusion be due to Tuberculosis?

Yes, pleural effusion can be a manifestation of **Tuberculosis (TB)** in children. TB is endemic in Sri Lanka, making it an important consideration. A BCG scar should be checked as part of the examination.

Stages of Primary TB Causing Pleural Effusion:

Pleural effusion in primary TB typically occurs as a **complication of primary progressive TB** or a **delayed hypersensitivity reaction** to tuberculous protein in the pleural space.

It often develops within 6 months of initial infection, usually after the primary Ghon complex has formed.
It’s essentially an allergic reaction to tuberculin protein released from a subpleural focus that ruptures into the pleural space, leading to an inflammatory exudate.

Will You Drain the Effusion?

The decision to drain a pleural effusion (perform a thoracentesis or chest tube insertion) depends on the size, nature, and clinical impact of the effusion. In this case, with a 10-year-old girl presenting with respiratory distress, reduced air entry, and dullness over a significant lung area, drainage is likely indicated.

**Indications for Drainage:**
- **Symptomatic Effusion:** If the effusion is causing significant respiratory distress.
- **Large Effusion:** Occupying more than one-third to one-half of the hemithorax.
- **Suspected Empyema or Complicated Parapneumonic Effusion:** Presence of pus, positive Gram stain/culture, low glucose, high LDH in pleural fluid.
- **Diagnostic Purpose:** To obtain fluid for analysis and identify the etiology (e.g., bacterial, TB, malignant).
**Contraindications:** Severe coagulopathy (relative contraindication).

For a parapneumonic effusion, early drainage of complicated effusions (fibrinopurulent or empyema) improves outcomes and reduces hospital stay. For TB effusions, drainage is often therapeutic to relieve symptoms and diagnostic for fluid analysis, but chemotherapy is the primary treatment.

Paediatric Short Cases

Renal Short Case – Generalized Edema

Patient Summary

A 10-year-old boy presents with generalized edema. On examination, he appears obese and has moon facies. Generalized soft, pitting edema is noted, along with marked periorbital puffiness and swollen extremities. His abdomen is distended with shifting dullness, and lung auscultation reveals dullness at the bases bilaterally.

What is your most probable diagnosis, how do you clinically identify it, and confirm the diagnosis?

Your most probable diagnosis is **Nephrotic Syndrome**.

Clinical Identification:

Generalized Edema: Soft, pitting, starting periorbital, then extremities/genitalia. Can progress to ascites (abdominal distention with shifting dullness) and pleural effusion (basal dullness on lung auscultation).
Weight gain: Due to fluid retention.
Frothy urine: Due to high protein content.

Confirmation of Diagnosis:

Urinalysis (UFR): Proteinuria $\ge$ +2 or +3 on dipstick.
Significant Proteinuria: Urine Protein Creatinine Ratio (UPCR) $\ge$ 2 mg/mg, or 24-hour urine protein $\ge$ 50 mg/kg/day.
Blood Tests:
- Hypoalbuminemia: Serum albumin < 2.5 g/dL.
- Hyperlipidemia: Elevated total cholesterol and triglycerides.

What are atypical features of Nephrotic Syndrome, and what is steroid-dependent vs. steroid-resistant disease?

Atypical Features:

These may suggest a non-minimal change disease or a secondary cause:

Age of Onset: < 1 year or > 12 years.
Gross Hematuria (RBCs in UFR).
Hypertension.
Low Complement Levels (C3/C4).
Signs of systemic disease (e.g., rash, joint pain, fever).
Failure to respond to steroids.

Steroid-Dependent vs. Steroid-Resistant:

Steroid-Sensitive (SSNS)/Early Responder: Remission with initial prednisolone, typically within 10-14 days.
Steroid-Dependent (SDNS): Two consecutive relapses while on maintenance prednisolone, or within 14 days of stopping prednisolone.
Steroid-Resistant (SRNS): Fails to achieve remission after 4 weeks of daily prednisolone.

What are the causes of obesity and hypertension in this child, and what potential complications can arise?

Causes of Obesity:

Corticosteroid Side Effect: Prednisolone increases appetite, causes fluid retention, leading to weight gain and “moon facies”.
Sedentary Lifestyle: Reduced physical activity due to chronic illness.

Causes of Hypertension:

Corticosteroid Side Effect: Prednisolone can cause hypertension.
Fluid Overload: Increased intravascular volume during active disease.
Disease-Related: Possible in some histological types or with renal impairment.

Potential Complications:

Infections: (Most common) Spontaneous Bacterial Peritonitis (SBP), cellulitis, pneumonia, UTI. Due to IgG loss, immunosuppression.
Thromboembolism: Increased risk of DVT, PE, renal vein thrombosis, cerebral thrombosis (leading to fits). Due to loss of natural anticoagulants.
Acute Kidney Injury (AKI): Due to severe hypovolemia.
Hypovolemia/Shock: Due to third-space fluid collection leading to intravascular depletion.
Hyponatremia.
Steroid Side Effects: Cataracts, glaucoma, growth retardation, osteopenia, gastric irritation.

What is the management plan (first presentation and relapses), including drugs, doses, and monitoring?

Management of First Presentation (Steroid-Sensitive NS):

Prednisolone: 2 mg/kg/day (max 60 mg/day) orally, single morning dose after food.
Duration: Daily for 4-6 weeks until remission. Then alternate-day (1.5 mg/kg alternate days, max 40 mg) for 4-6 weeks, then taper over several months.
General Measures: Salt restriction during active edema only. Fluid restriction only for severe hyponatremia. Diuretics with albumin for severe edema.
Monitoring: Daily weight, BP, urine output, urine protein (bedside test/ward test). Monitor for complications.

Management of Relapses:

Prednisolone: Start daily prednisolone (2 mg/kg/day) until remission, then alternate-day taper.
Second-Line Agents (for frequent relapses or steroid-dependence):
- Levamisole: Immunomodulator to reduce relapse rate.
  - Side Effects: Neutropenia (monitor FBC), abdominal pain.
- Cyclophosphamide: (used for steroid-dependent/frequently relapsing NS).
  - Side Effects: Bone marrow suppression, hemorrhagic cystitis (monitor urine for blood, good hydration), alopecia, gonadal toxicity.
- Calcineurin Inhibitors (Cyclosporine, Tacrolimus) or Rituximab for resistant cases.

How would you manage hypovolemia, and advise parents regarding the disease’s natural course, social issues, and vaccination?

Management of Hypovolemia:

Fluid Resuscitation: For severe hypovolemia/shock:
- IV Albumin (20%): 0.5-1 g/kg (2.5-5 mL/kg of 20%) over 30-60 minutes.
- Follow with a diuretic (e.g., Furosemide) to mobilize edema.
- Avoid diuretics alone if hypovolemic (worsens AKI).
Monitoring: Close monitoring of vital signs, urine output, clinical status.

Advising Parents:

Natural Course/Prognosis: Explain NS is often relapsing/remitting. Most common type (minimal change disease) has excellent prognosis, with recovery without long-term kidney damage.
Medication Side Effects: Discuss steroid side effects (weight gain, moon face etc.).
Diet & Lifestyle: Salt restriction during active edema only. Balanced diet and activity.
Social & School Issues: Address concerns about school attendance, peer interaction due to appearance. Emphasize continued schooling/social engagement.

Vaccination Schedule:

Routine EPI Vaccines: Given during remission. Live attenuated vaccines (MMR, Varicella, Oral Polio) deferred if on high-dose steroids/immunosuppressants.
Additional Vaccines (Non-EPI):
- Pneumococcal Vaccine: Essential due to high risk of SBP.
- Varicella Zoster Virus (VZV) Vaccine: Recommended if not previously infected, when off immunosuppression.
- Influenza Vaccine: Annually.

Paediatric Short Cases

Renal Short Case – Generalized Edema with Skin Lesions

Patient Summary

A 13-year-old girl presents with generalized body edema. On examination, she has periorbital and lower limb edema. Her blood pressure is elevated for her age. She has scattered skin lesions on her legs, some of which appear to be healing ulcers.

What is your most probable diagnosis, and what other features would you look for to confirm it?

Your most probable diagnosis is **Acute Nephritic Syndrome**, likely Post-Streptococcal Glomerulonephritis (PSGN).

Justification:

Generalized Edema: Acute onset, often periorbital and then dependent areas.
Elevated Blood Pressure: A hallmark of nephritic syndrome due to fluid retention and renin-angiotensin activation.
Skin Lesions on Legs: Suggestive of prior streptococcal skin infection (pyoderma), which is a common antecedent to PSGN in tropical climates.
Age: PSGN is common in school-aged children.

Other Features to Look For:

History: Recent (1-3 weeks prior) skin infection (impetigo/pyoderma) or pharyngitis (sore throat).
Urine:
- Gross Hematuria: “Smoky,” “cola-colored,” or “tea-colored” urine (due to red blood cells).
- Reduced urine output (oliguria).
Fluid Overload Signs: Signs of heart failure (tachycardia, gallop rhythm, hepatomegaly, pulmonary crepitations).
Rash Characteristics: Note type, distribution, and evolution of skin lesions (e.g., specific rash of Henoch-Schönlein Purpura).

What are your differential diagnoses, and how do you differentiate Nephritic Syndrome from Nephrotic Syndrome?

Differential Diagnoses (DDx):

Acute Nephritic Syndrome:
- Post-Streptococcal Glomerulonephritis (PSGN) (most probable).
- Henoch-Schönlein Purpura (HSP) with nephritis (often has palpable purpura, joint pain, abdominal pain).
- IgA Nephropathy.
- Systemic Lupus Erythematosus (SLE) with nephritis (may have multi-system involvement, specific rashes).
- Other acute glomerulonephritides.
Nephrotic Syndrome: (Primary or secondary).
Acute Kidney Injury (AKI) with fluid overload.
Acute Heart Failure.

Differentiation: Nephritic vs. Nephrotic Syndrome:

Feature	Nephritic Syndrome	Nephrotic Syndrome
Primary Feature	Inflammation of glomeruli, causing hematuria.	Increased glomerular permeability, causing massive proteinuria.
Edema	Often less severe, periorbital. Due to fluid retention.	Generalized, massive, soft, pitting. Due to hypoalbuminemia.
Urine	Hematuria (gross or microscopic), oliguria. Proteinuria is usually non-nephrotic range.	Massive Proteinuria (nephrotic range). Hematuria is usually absent or microscopic.
Blood Pressure	Hypertension common.	Usually normal, may be hypotensive if hypovolemic, or hypertensive with steroids.
Serum Albumin	Normal or mildly reduced.	Markedly reduced (< 2.5 g/dL).
Serum Cholesterol	Normal.	Elevated.
C3 Complement	Often low (e.g., in PSGN).	Usually normal (e.g., in Minimal Change Disease).

What investigations would you do to confirm the diagnosis, specifically for hematuria and complement levels?

Investigations to Confirm Diagnosis:

Urinalysis (UFR):
- Hematuria: Presence of red blood cells (RBCs), particularly dysmorphic RBCs or RBC casts, indicating glomerular origin.
- Proteinuria: Usually sub-nephrotic range (<2g/day or UPCR <2).
Blood Tests:
- Renal Function Tests (RFTs): Elevated Urea and Creatinine, indicating kidney impairment.
- Electrolytes: To check for hyperkalemia, hyponatremia.
- Complement Levels: Specifically **C3 and C4**. C3 is typically low in PSGN and remains low for 6-8 weeks, while C4 is usually normal. Low C3 and C4 may suggest other conditions like SLE.
- ASOT (Anti-Streptolysin O Titre) or Anti-DNAse B: To detect recent streptococcal infection (pharyngitis or skin infection).
- Full Blood Count (FBC): May show anemia due to fluid overload (dilutional) or chronic kidney disease.
Imaging:
- Renal Ultrasound: To assess kidney size, rule out obstruction or other structural abnormalities.
Kidney Biopsy: Only indicated in atypical presentations, rapidly progressive disease, or if diagnosis remains uncertain (e.g., no evidence of streptococcal infection, persistently low C3 after 8 weeks, or signs of systemic disease).

What is the management plan, including antihypertensives, and what are the potential complications?

Management Plan:

Management of Acute Nephritic Syndrome is primarily supportive, aimed at managing fluid overload, hypertension, and identifying/treating the underlying cause.

General Measures:
- Hospitalization: For close monitoring, especially if hypertensive or fluid overloaded.
- Fluid and Salt Restriction: Strict restriction of salt and fluids to manage edema and hypertension.
- Diuretics: Furosemide (1-2 mg/kg/dose IV/oral) to promote diuresis and reduce fluid overload and BP.
Antihypertensive Drugs:
- Given if BP is persistently elevated despite fluid/salt restriction, or if very high.
- First-line: Calcium Channel Blockers (e.g., Amlodipine, Nifedipine).
- Other options: ACE inhibitors (use with caution if AKI/hyperkalemia risk), beta-blockers, hydralazine.
Antibiotics:
- For PSGN: A 10-day course of Penicillin V (oral) or a single intramuscular injection of Benzathine Penicillin G. This is to eradicate any residual streptococcal infection, not to treat the nephritis itself.
Monitoring: Daily weight, BP, urine output, fluid balance, electrolytes, renal function.

Potential Complications of Nephritic Syndrome:

Hypertensive Encephalopathy: Due to severe, uncontrolled hypertension. Presents with headache, vomiting, altered consciousness, seizures, visual disturbances.
Acute Heart Failure (Pulmonary Edema): Due to severe fluid overload. Presents with severe dyspnea, orthopnea, crepitations.
Acute Kidney Injury (AKI): Severe renal impairment, potentially requiring dialysis.
Electrolyte Imbalances: Hyperkalemia, hyponatremia.
Progression to Chronic Kidney Disease (CKD): Although most cases of PSGN resolve completely, a small percentage may develop CKD.

What is the name of the rash, and what assessments are needed after discharge?

Name of the Rash:

If the skin lesions are characteristic, the rash could be related to prior **Impetigo/Pyoderma** (streptococcal skin infection). If the rash is palpable purpura, it might be **Henoch-Schönlein Purpura (HSP)**, where skin involvement is a key feature.

Assessments After Discharge:

Follow-up is crucial to ensure complete recovery and detect any long-term complications.

Blood Pressure Monitoring: Regularly for several months, or longer if hypertension persists.
Urinalysis: Monthly for 6 months to 1 year to check for proteinuria and hematuria. Microscopic hematuria may persist for up to 1-2 years.
Renal Function Tests: Periodically until normalized.
C3 Complement Level: Should normalize within 6-8 weeks. Persistently low C3 may suggest other forms of glomerulonephritis.
Growth and Development: Monitor overall progress.

Paediatric Short Cases

Renal Short Case – Fever and Lower Abdominal Pain with Ballotable Kidney

Patient Summary

A 14-year-old boy presents with fever and lower abdominal pain. On examination, his temperature is elevated, and there is suprapubic tenderness. His right kidney is ballotable. A midline abdominal scar is noted.

What is your most probable diagnosis (Upper vs. Lower UTI) and what is the underlying pathology?

Your most probable diagnosis is an **Upper Urinary Tract Infection (Pyelonephritis)**.

Justification:

Fever: Indicative of systemic infection.
Lower abdominal pain with suprapubic tenderness: Common in both upper and lower UTI.
Ballotable kidney: This suggests an enlarged or inflamed kidney, a sign more specific to pyelonephritis (upper UTI).

The **underlying pathology** for recurrent or complicated UTIs in children, especially with a history of previous abdominal surgery (indicated by the midline scar), is often a **structural or functional anomaly of the urinary tract**.

Most commonly, this is **Vesicoureteral Reflux (VUR)**, where urine flows backward from the bladder into the ureters and kidneys during micturition. The midline scar suggests a possible previous VUR repair.
Other possibilities include obstructive uropathy (e.g., posterior urethral valves, ureteropelvic junction obstruction), neurogenic bladder, or renal calculi.

What investigations would you do to confirm UTI, and what is the commonest causative organism?

Investigations to Confirm UTI:

Confirmation of UTI requires appropriate urine collection and analysis.

Urine Sample Collection:
- **Midstream Urine (MSU):** For toilet-trained children. Needs proper cleaning technique (“clean catch”).
- **Suprapubic Aspiration (SPA):** Gold standard for infants and non-toilet trained children, provides sterile sample.
- **Catheter Sample:** Alternative to SPA for infants.
- Urine should be collected in a sterile screw-capped bottle and sent to lab within 1 hour, or refrigerated if delay.
Urinalysis (UFR):
- Leukocyturia: Presence of white blood cells (WBCs), indicating inflammation.
- Nitrites: Produced by certain bacteria (Gram-negative) converting nitrates.
- Leukocyte Esterase: Enzyme produced by WBCs.
- Hematuria: Presence of red blood cells.
Urine Culture & Sensitivity (C&S): This is the **confirmatory test**.
- **Interpretation:** Significant bacteriuria (e.g., >10⁵ colony-forming units/mL for MSU, any growth for SPA/catheter sample) with pyuria confirms UTI.

Commonest Causative Organism:

**Escherichia coli (E. coli):** Accounts for 80-90% of UTIs in children.
Other common organisms: Klebsiella, Proteus, Enterococcus, Pseudomonas.

How would you manage this patient in the ward acutely, and what tests confirm the underlying pathology?

Acute Management in the Ward:

Management of pyelonephritis requires prompt and appropriate antibiotic therapy to prevent renal scarring.

Initial Assessment: Assess hydration, vital signs, and severity.
IV Fluids: If dehydrated or unable to tolerate oral fluids.
Antipyretics: For fever control.
Empirical IV Antibiotics: Start broad-spectrum antibiotics empirically after urine and blood cultures are sent.
- Examples: Third-generation cephalosporins (e.g., Ceftriaxone, Cefotaxime) or Aminoglycosides (e.g., Gentamicin).
- Adjust based on culture & sensitivity results when available.
- Duration: Typically 7-14 days total course (initial IV, then switch to oral once clinically improved).
Monitor: Clinical status, fever, urine output, renal function.

Tests to Confirm Underlying Pathology (e.g., VUR):

These investigations are typically performed after the acute infection has resolved (usually 4-6 weeks after treatment) to avoid misinterpretation due to inflammation.

Micturating Cystourethrogram (MCUG): This is the **investigation of choice** for VUR.
- A contrast dye is instilled into the bladder, and X-rays are taken during bladder filling and urination to visualize reflux.
Dimercaptosuccinic Acid (DMSA) Renal Scintigraphy:
- Assesses kidney function and identifies **renal scarring** (damage to kidney tissue).
- It is usually performed 4-6 months after the acute infection to allow resolution of acute inflammatory changes.
Renal Ultrasound (USS): Initial imaging to assess kidney size, hydronephrosis, and bladder anatomy.

What are the long-term complications of VUR and UTI, and what are the social problems associated with this condition?

Long-Term Complications of VUR and Recurrent UTIs:

Recurrent upper UTIs, especially in the presence of VUR, can lead to permanent kidney damage.

Renal Scarring: (also known as reflux nephropathy) Focal areas of kidney damage caused by recurrent infections and inflammation. Identified by DMSA scan.
Hypertension: A significant long-term complication of renal scarring and chronic kidney damage.
Chronic Kidney Disease (CKD): Progressive decline in kidney function, potentially leading to end-stage renal disease (ESRD).
Proteinuria.
Reduced Kidney Growth.
Recurrent Fevers and Illness.

Social Problems Associated with Chronic UTI/VUR:

Chronic conditions like recurrent UTIs and VUR can have significant social and psychological impacts on both the child and family.

Impact on Child:
- Frequent hospitalizations and clinic visits disrupting schooling and social activities.
- Emotional distress due to chronic illness, pain, or incontinence.
- Potential for social stigma if enuresis or incontinence is present.
- Impact on self-esteem and body image due to condition or scars.
Impact on Family:
- Financial burden due to medical expenses, investigations, and medications.
- Parental stress and anxiety related to child’s health, prognosis, and managing the condition.
- Disruption of family routine due to frequent appointments or child’s illness.
- Challenges with treatment adherence (e.g., long-term prophylactic antibiotics).
- Impact on social life and work due to caregiving responsibilities.
Impact on Education: Missed school days due to illness or appointments can affect academic performance.

Patients are generally allowed to play as normal children, but strenuous activities might need advice depending on renal function and any other specific restrictions.