Paediatrics (Ben) Flashcards

Question

When does Eisenmenger syndrome typically develop?

Answer 1

In late teens

Answer 2

* Cyanosis * Clubbing * Dyspnoea As the condition progresses, patients can develop right heart failure. Other possible signs include: Right ventricular heave Loud P2 heart sound Raised JVP Peripheral oedema

Answer 3

Cardiac catheterization It helps identify and quantify the shunt and assess the degree of pulmonary hypertension.

Answer 4

Echocardiography Pulmonary function tests

Answer 5

Congenital heart diseases Chronic obstructive pulmonary disease (COPD) Pulmonary embolism

Answer 6

Most effective treatment is **preventative**. Involving early identification and prompt treatment of causes leading to left-to-right shunts. If it's not prevented then the only definitive treatment is a **heart-lung transplant**. If this isn't feasible, then palliative care becomes the focus. Medical management of the symptoms can involve: * Oxygen * sildenafil (to manage pulmonary hypertension) * Anticoagulation (to prevent thrombosis) * Prophylactic antibiotics (to prevent infective endocarditis)

Answer 7

Reduces life expectancy by around 20 years Main causes of death are heart failure, infection, thromboembolism and haemorrhage. The mortality can be up to 50% in pregnancy.

Answer 8

The term cyanotic heart disease, encompasses a range of congenital heart defects resulting in a right-to-left shunt, which leads to systemic arterial desaturation and subsequent cyanosis within the first few weeks of life.

Answer 9

Congenital malformations that result in the formation of a right-left shunt: * **Transposition of the great arteries**: In this defect, the aorta and pulmonary trunk have their insertions swapped around. * **Pulmonary and tricuspid atresias**: This causes the right side of the heart to be a dead-end. * **Tetralogy of Fallot**: Here, pulmonary stenosis in combination with a large ventricular septal defect results in shunting at the ventricular level.

Answer 10

Affected infants typically present within the first few weeks of life: **Visible cyanosis**: This is a consequence of systemic arterial desaturation. Additional symptoms and signs may vary depending on the specific congenital defect

Answer 11

Other conditions that cause cyanosis in infancy: **Methemoglobinemia** Signs include cyanosis and chocolate-brown colored blood. **Polycythemia** Symptoms include ruddy complexion, and in severe cases, symptoms of hyperviscosity like dizziness and headache. **Pulmonary disease** Symptoms can range from tachypnea and respiratory distress to cyanosis in severe cases. **Sepsis** Presents with symptoms such as fever, lethargy, poor feeding, and in severe cases, cyanosis.

Answer 12

Definitive diagnosis: **Echocardiography** However diagnosis is often made antenatally during routine **ultrasound scans**.

Answer 13

Definitive management: * Surgical correction of the defect * If surgical correction isn't suitable, then a heart transplant may be considered. While awaiting surgery, prostaglandin E is given to maintain patency of the ductus arteriosus, (which provides temporary relief from cyanosis).

Answer 14

Tetralogy of Fallot is a cyanotic congenital cardiac condition, consisting of four key anatomical abnormalities: * Ventricular septal defect (VSD) * Overriding aorta * Pulmonary valve stenosis (Right ventricular outflow tract obstruction) * Right ventricular hypertrophy

Answer 15

Equal prevalence in males and females May occur alongside chromosomal abnormalities like Down's or DiGeorge syndrome

Answer 16

Rubella infection Increased age of the mother (over 40 years) Alcohol consumption in pregnancy Diabetic mother

Answer 17

* **Cyanosis** * Clubbing * Poor feeding * Poor weight gain * Ejection systolic murmur heard loudest in the pulmonary area * Tet spells

Answer 18

Are intermittent symptomatic periods where the right to left shunt becomes temporarily worsened, precipitating a cyanotic episode.

Answer 19

They occur when the pulmonary vascular resistance increases or the systemic resistance decreases. This occurs when the child generates increased CO2 by exerting themselves (waking, physical exertion, crying) CO2 is a vasodilator which thus causes systemic vasodilation and therefore reduces the systemic vascular resistance which results in blood being pumped from the right ventricle to the aorta rather than the pulmonary vessels.

Answer 20

The child will become irritable, cyanotic and short of breath. Severe spells can lead to reduced consciousness, seizures and potentially death.

Answer 21

Older children may squat when a tet spell occurs. Younger children can be positioned with their knees to their chest. (Increases systemic vascular resistance encouraging blood into the pulmonary vessels) **Medical Management** * Supplementary oxygen is essential in hypoxic children as hypoxia can be fatal. * Beta blockers can relax the right ventricle and improve flow to the pulmonary vessels. * IV fluids can increase pre-load, increasing the volume of blood flowing to the pulmonary vessels. * Morphine can decrease respiratory drive, resulting in more effective breathing. * Sodium bicarbonate can buffer any metabolic acidosis that occurs. * Phenylephrine infusion can increase systemic vascular resistance.

Answer 22

Diagnostic: **Echocardiogram** (As with all structural congenital cardiac abnormalities) Doppler flow studies can be done during the echo to assess the severity of the abnormality and shunt. Chest XRay - Shows **"boot shaped” heart** due to right ventricular thickening.

Answer 23

Definitive treatment is **Total Surgical Repair** by open heart surgery In neonates, a prostaglandin infusion can be used to maintain the ductus arteriosus (allowing blood to flow from the aorta back to the pulmonary arteries)

Answer 24

It refers to a complex clinical syndrome in which the heart, due to structural or functional anomalies, cannot pump an adequate amount of blood to meet the metabolic needs of the child's body.

Answer 25

It's primarily related to congenital heart defects, But can also be associated with acquired conditions like myocarditis, cardiomyopathies, arrhythmias, or hypertension.

Answer 26

**Infants** Difficulty feeding Faltering growth **Young children** Exercise intolerance Abdominal pain and vomiting (especially upon exertion) Fatigue Poor appetite **Adolescents** Exercise intolerance Fatigue **Common symptoms across all age groups** include: potential oedema cyanosis hepatomegaly A heart murmur may be present in children with structural heart defects.

Answer 27

Asthma Pneumonia Gastro-oesophageal reflux disease Anemia

Answer 28

**Blood tests** Full blood count (FBC) Urea and Electrolytes (U&Es) Liver Function Tests (LFTs) C-Reactive Protein (CRP) Thyroid Function Tests (TFTs) Bone profile, Magnesium B-type Natriuretic Peptide (BNP) **Imaging** Chest X-ray and Echocardiogram **ECG**

Answer 29

**Conservative** Fluid restriction and dietitian-guided feeding plans **Medical** Use of diuretics with inotropic support, if required **Surgical** Correction of the anatomical defect causing heart failure (if present) Heart transplant in end-stage cases

Answer 30

Transposition of the great arteries (TGA) is a cyanotic congenital cardiac defect in which the origins of the aorta and pulmonary artery are reversed, or transposed. Meaning the right ventricle pumps blood into the aorta and the left ventricle pumps blood into the pulmonary vessels.

Answer 31

Slightly more common in males than in females Maternal diabetes mellitus associated with increased risk

Answer 32

Normal heart development involves the spiralling of the aortopulmonary septum. In TGA, this spiralling fails to occur, leading to the aorta arising from the right ventricle and supplying the systemic circulation, while the pulmonary artery arises from the left ventricle and supplies the pulmonary circulation.

Answer 33

No As the it results in two parallel and separate circulations that don't mix (one travelling through the systemic system and right side of the heart and the other traveling through the pulmonary system and left side of the heart).

Answer 34

If there is shunting via the ductus arteriosus or any existing septal defects.

Answer 35

* Cyanosis at birth or shortly after birth * Rapid breathing or shortness of breath * Poor feeding * Low weight gain * Heart murmur detected by a physician

Answer 36

Tetralogy of Fallot Tricuspid Atresia Total Anomalous Pulmonary Venous Return (TAPVR)

Answer 37

It's often diagnosed during pregnancy with an antenatal ultrasound scan.

Answer 38

**Echocardiography** Used postnatally to confirm the diagnosis and to evaluate the structure and function of the heart.

Answer 39

**Medical** Prostaglandin E infusions: This maintains the patency of the ductus arteriosus while awaiting surgical intervention. **Surgical** Definitive treatment is open heart surgery to correct the defect. This involves a cardiopulmonary bypass machine performing an **“arterial switch”** procedure within a few days of birth. A Balloon Septostomy can also be done to create a large atrial septal defect, to allow time for further surgical management.

Answer 40

Rheumatic Fever is an auto-immune systemic complication of Lancefield group A beta-haemolytic streptococcal infection, that occurs 2-4 weeks post infection.

Answer 41

The immune system creates antibodies to fight the group A beta-haemolytic streptoccocus infection (scarlet fever). However, these antibodies not only target the bacteria, but also cross-react with the person's endocardium leading to valvular disease. (This is known as molecular mimicry). This results in a type 2 hypersensitivity reaction, where the immune system begins attacking cells throughout the body.

Answer 42

It is very rare in developed countries (as the infection is treated with antibiotics) But is a common cause of valvulopathy in children and young adults in the developing world

Answer 43

Presents 2-4 weeks following a streptococcal infection, such as tonsillitis. Symptoms affect multiple systems: * Fever * Joint pain * Rash * Shortness of breath * Chorea * Nodules

Answer 44

Rheumatic fever causes a **migratory arthritis **affecting the large joints, with hot, swollen, painful joints. It is migratory because different joints become inflamed and improve at different times, giving the appearance that the arthritis is moving from one joint to the next.

Answer 45

**Carditis**, or inflammation throughout the heart, with **pericarditis, myocarditis and endocarditis**. Which can present with: * Tachycardia or bradycardia * Murmurs from valvular heart disease, typically mitral valve disease * Pericardial rub on auscultation * Heart failure

Answer 46

Subcutaneous nodules Erythema marginatum rash Firm painless nodules occur over extensor surfaces of joints, such as the elbows. The erythema marginatum rash involves pink rings of varying sizes affecting the torso and proximal limbs.

Answer 47

Chorea is the key nervous system symptom. Also known as Sydenham chorea and historically as St Vitus’ Dance.

Answer 48

* Throat swab for bacterial culture * ASO antibody titres * Echocardiogram, ECG and chest xray can assess the heart involvement

Answer 49

Jones Criteria (alongside evidence of past streptococcal infection using e.g. ASO antibody titres or throat swab)

Answer 50

A diagnosis of rheumatic fever can be made when there is evidence of recent streptococcal infection, plus: Two major criteria OR One major criteria plus two minor criteria

Answer 51

**J** – Joint arthritis **O** – Organ inflammation, such as carditis **N** – Nodules **E** – Erythema marginatum rash **S** – Sydenham chorea

Answer 52

**F** -Fever **E** - ECG Changes (prolonged PR interval) without carditis **A** - Arthralgia without arthritis **R** - Raised inflammatory markers (CRP and ESR)

Answer 53

**Systemic lupus erythematosus (SLE)** **Kawasaki Disease** Both can present with joint pain, fever, strawberry tongue and can lead to cardiac complications. But; cardiac manifestations of Kawasaki Disease are classically coronary artery aneurysms opposed to valvular pathologies. **Reactive Arthritis** Both can present with joint pain and constitutional symptoms including fevers. But; reactive arthritis does not lead to cardiac manifestations.

Answer 54

Mitral Stenosis

Answer 55

* Mitral stenosis (Most common) * Mitral regurgitation * Mixed mitral stenosis and regurgitation * Aortic regurgitation * Aortic stenosis (rare in isolation) * Tricuspid regurgitation or stenosis

Answer 56

First line is a STAT dose of IV Benzylpenicillin, with a ten day course of Phenoxymethylpenicillin to follow (to eradicate the strep infection). Other management involves: * NSAIDs (e.g. ibuprofen) for joint pain * Aspirin and steroids are used to treat carditis * Prophylactic antibiotics (oral or intramuscular penicillin) are used to prevent further streptococcal infections and recurrence of the rheumatic fever. (These are continued into adulthood.)

Answer 57

It is a normal foetal artery that connects the aorta and pulmonary artery.

Answer 58

The ductus arteriosus normally stops functioning within 1-3 days of birth, and closes completely within the first 2-3 weeks of life. When it fails to close, this is called a “patent ductus arteriosus” (PDA).

Answer 59

**Prematurity** Maternal rubella infection during pregnancy

Answer 60

Pressure in the aorta is higher than that in the pulmonary vessels, so blood flows from the aorta to the pulmonary artery (creating a left to right shunt). This increases the pressure in the pulmonary vessels causing pulmonary hypertension, leading to right sided heart strain. Pulmonary hypertension and right sided heart strain lead to right ventricular hypertrophy. The increased blood flowing through the pulmonary vessels and returning to the left side of the heart leads to left ventricular hypertrophy.

Answer 61

Small PDAs can be asymptomatic throughout childhood and present with signs of heart failure in adulthood. Distinctive **continuous crescendo-decrescendo “machinery” murmur** that may continue during the second heart sound Can also present with: Shortness of breath Difficulty feeding Poor weight gain Lower respiratory tract infections

Answer 62

**Congenital heart defects** **Coarctation of the aorta** characterised by upper body hypertension, lower body hypotension, and weak or absent femoral pulses. **Pulmonary hypertension** presenting with exertional dyspnea, chest pain, and signs of right heart failure

Answer 63

Echocardiogram (Doppler flow studies during the echo can assess the size and characteristics of the left to right shunt)

Answer 64

Management only required if patient has symptoms **Medical** * NSAIDs (in 1/3 of patients) as they inhibit prostaglandin synthesis (which typically helps maintain patency). * Paracetamol can be used as an alternative to NSAIDs. **Surgical** * After a year of monitoring, if the PDA hasn't closed, then trans-catheter or surgical closure can be performed.

Answer 65

They're abnormal heart rhythms that result from an interruption to the normal electrical signals that coordinate the contraction of the heart muscle. There are several types

Answer 66

Ventricular tachycardia Ventricular fibrillation

Answer 67

Pulseless electrical activity (all electrical activity except VF/VT, including sinus rhythm without a pulse) Asystole (no significant electrical activity)

Answer 68

Narrow complex tachycardia refers to a fast heart rate with a QRS complex duration of less than 0.12 seconds.

Answer 69

Sinus tachycardia Supraventricular tachycardia Atrial fibrillation Atrial flutter

Answer 70

Synchronised DC cardioversion under sedation or general anaesthesia. IV amiodarone is added if initial DC shocks are unsuccessful.

Answer 71

Broad complex tachycardia refers to a fast heart rate with a QRS complex duration of more than 0.12 seconds.

Answer 72

* Ventricular tachycardia (or unclear cause) * Polymorphic ventricular tachycardia, such as torsades de pointes * Atrial fibrillation with bundle branch block * Supraventricular tachycardia with bundle branch block

Answer 73

IV Amiadorone

Answer 74

IV Magnesium

Answer 75

Synchronised DC cardioversion under sedation or general anaesthesia. IV amiodarone is added if initial DC shocks are unsuccessful. (Same as narrow complex )

Answer 76

Atrial flutter is a common supraventricular tachycardia (SVT). It is characterised by an abnormal cardiac rhythm with an atrial rate of 300 beats/min and a ventricular rate that can be fixed or variable.

Answer 77

Usually 2:1 conduction (2 atrial contractions for every ventricle contraction) Thus the HR would be 150bpm Although the conduction rate can be 3:1 or even 4:1

Answer 78

As the electrical signal can't enter the ventricles on every lap due to the long refractory period of the atrioventricular node

Answer 79

**Sawtooth appearance** with repeated P waves occurring at around 300 per minute. In a regular rhythm). With a narrow complex tachycardia (narrow QRS Complex).

Answer 80

Normally the electrical signal passes through the atria once, stimulating a contraction, then disappears through the atrioventricular node into the ventricles. Atrial flutter is caused by a re-entrant rhythm in the right atrium. The electrical signal re-circulates in a self-perpetuating loop due to an extra electrical pathway in the atria. The signal goes round and round the atrium without interruption resulting in a very high atrial HR.

Answer 81

Its likely to occur with pulmonary disease such as: * COPD * Obstructive sleep apnoea * Pulmonary emboli * Pulmonary hypertension Other causes: Ischaemic heart disease Sepsis Alcohol Cardiomyopathy Thyrotoxicosis

Answer 82

Asymptomatic Palpitations Lightheadedness Syncope Chest pain

Answer 83

1st line = direct current synchronised cardioversion +/- amiodarone

Answer 84

Treat reversible causes e.g. fluid rehydration (in septic/dehydrated patients) **Rate and Rhythm control** * 1st line = beta-blocker (bisoprolol) OR calcium channel blocker (diltiazem, verapamil) * 2nd line = if rate control fails to control flutter than consider cardioversion (either electrical or pharmacological with drugs like amiodarone, sotalol, or digoxin) * 3rd line = recurrent or refractory flutter managed with ablation of arrhythmogenic foci at cavotricuspid isthmus. **Anticoagulation** According to CHA2DS2VASc score due to increased risk of ischaemic stroke

Answer 85

* Ischaemic stroke if not appropriately anticoagulated. * Tachycardia-induced cardiomyopathy leading to heart failure.

Answer 86

More than 440 milliseconds in men More than 460 milliseconds in women

Answer 87

Depolarisation is the electrical process that leads to heart contraction.

Answer 88

Repolarisation is a recovery period before the muscle cells are ready to depolarise again.

Answer 89

A prolonged QT interval represents prolonged repolarisation of the heart muscle cells (myocytes) after a contraction. Waiting a long time for repolarisation can result in spontaneous depolarisation in some muscle cells. These abnormal spontaneous depolarisations before repolarisation are known as afterdepolarisations. These afterdepolarisations spread throughout the ventricles, causing a contraction before proper repolarisation. When this leads to recurrent contractions without normal repolarisation, it is called torsades de pointes.

Answer 90

Its type of polymorphic ventricular tachycardia. It translates from French as “twisting of the spikes”, describing the ECG characteristics.

Answer 91

It looks like standard ventricular tachycardia but with the appearance that the QRS complex is twisting around the baseline. The height of the QRS complexes gets progressively smaller, then larger, then smaller, and so on.

Answer 92

They will **terminate spontaneously and revert to sinus rhythm** or progress to ventricular tachycardia. Ventricular tachycardia can lead to cardiac arrest.

Answer 93

* Long QT syndrome (an inherited condition) * Medications, such as antipsychotics, citalopram, flecainide, sotalol, amiodarone and macrolide antibiotics * Electrolyte imbalances, such as hypokalaemia, hypomagnesaemia and hypocalcaemia

Answer 94

* Stopping and avoiding medications that prolong the QT interval * Correcting electrolyte disturbances * Beta blockers (not sotalol) * Pacemakers or implantable cardioverter defibrillators

Answer 95

* Correcting the underlying cause (e.g., electrolyte disturbances or medications) * **Magnesium infusion** (even if they have normal serum magnesium) * Defibrillation if ventricular tachycardia occurs

Answer 96

They are premature ventricular beats caused by random electrical discharges outside the atria. Patients often present complaining of random extra or missed beats. They are relatively common at all ages and in healthy patients. (but are more common in those with pre-existing heart conditions).

Answer 97

They appear as isolated, random, abnormal, broad QRS complexes on an otherwise normal ECG.

Answer 98

Bigeminy refers to when every other beat is a ventricular ectopic. The ECG shows a normal beat, followed immediately by an ectopic beat, then a normal beat, then an ectopic, and so on.

Answer 99

**PR interval greater than 0.2 seconds** It occurs where there is delayed conduction through the atrioventricular node. Despite this, every atrial impulse still leads to a ventricular contraction, meaning every P wave is followed by a QRS complex.

Answer 100

Second-degree heart block is where some atrial impulses don't make it through the atrioventricular node to the ventricles. Thus, there are instances where P waves are not followed by QRS complexes. There are two types.

Answer 101

Mobitz type 1 (Wenckebach phenomenon) Mobitz type 2

Answer 102

It is where the conduction through the atrioventricular node takes progressively longer until it finally fails, after which it resets, and the cycle restarts. On an ECG, there is an increasing PR interval until a P wave is not followed by a QRS complex. The PR interval then returns to normal, and the cycle repeats itself.

Answer 103

This is where there is intermittent failure of conduction through the atrioventricular node, with the occasional absence of QRS complexes following P waves. There is usually a set ratio of P waves to QRS complexes, for example, three P waves for each QRS complex (3:1 block). **The PR interval remains normal** There is a risk of asystole

Answer 104

Also called complete heart block. There is no observable relationship between the P waves and QRS complexes. There is a significant risk of asystole

Answer 105

Asystole refers to the absence of electrical activity in the heart (resulting in cardiac arrest).

Answer 106

* Mobitz type 2 * Third-degree heart block (complete heart block) * Previous asystole * Ventricular pauses longer than 3 seconds

Answer 107

* **Intravenous atropine** (first line) * Inotropes (e.g., isoprenaline or adrenaline) * Temporary cardiac pacing * Permanent implantable pacemaker, when available

Answer 108

* Transcutaneous pacing, using pads on the patient’s chest * Transvenous pacing, using a catheter, fed through the venous system to stimulate the heart directly

Answer 109

Atropine is an antimuscarinic medication and works by inhibiting the parasympathetic nervous system.

Answer 110

pupil dilation dry mouth urinary retention constipation.

Answer 111

Atrial fibrillation (AF) is characterised by irregular, uncoordinated atrial contraction usually at a rate of 300-600 beats per minute. Delay at the AVN means that only some of the atrial impulses are conducted to the ventricles, resulting in an irregular ventricular response.

Answer 112

AF is the commonest sustained cardiac arrhythmia. (Atrial Flutter is second most common) The prevalence of AF roughly doubles with each advancing decade of age

Answer 113

* Acute: lasts <48 hours * Paroxysmal: lasts <7 days and is intermittent * Persistent: lasts >7 days but is amenable to cardioversion * Permanent: lasts >7 days and is not amenable to cardioversion It can also be classed as **fast** or **slow**: Fast AF : >100bpm Slow AF: <60bpm

Answer 114

**Cardiac** * Ischaemic heart disease: most common cause in the UK. * Hypertension * Rheumatic heart disease (typically affecting the mitral valve): most common cause in less developed countries. * Peri-/myocarditis **Non-cardiac** * Dehydration * Endocrine causes e.g. hyperthyroidism * Infective causes e.g. sepsis * Pulmonary causes e.g. pneumonia or pulmonary embolism * Environmental toxins e.g. alcohol abuse * Electrolyte disturbances e.g. hypokalaemia, hypomagnesaemia

Answer 115

Palpitations Chest pain Shortness of breath Lightheadedness Syncope

Answer 116

* Irregularly irregular pulse rate with a variable volume pulse. * A single waveform on the jugular venous pressure (due to loss of the a wave - this normally represents atrial contraction). * An apical to radial pulse deficit (as not all atrial impulses are mechanically conducted to the ventricles). * On auscultation there may be a variable intensity first heart sound.

Answer 117

**Atrial Flutter** Distinguishing between the two requires an ECG. **Supraventricular Tachycardia** Distinguishing between different types of SVT requires an ECG. **Ventricular Tachycardia** ECG patterns differ tremendously.

Answer 118

**12-lead ECG** Shows absence of p waves with an irregularly irregular rhythmn.

Answer 119

* Routine bloods: to look for reversible causes (e.g. infection (raised WCC and CRP), Hyperthyroidism (raised T3/T4)) * Echocardiography - To see if there is a cardoiac cause for the AF (e.g. left atrial dilatation secondary to mitral valve disease).

Answer 120

1st line = synchronised DC cardioversion +/- amiodarone

Answer 121

**Rate or rhythmn control** Either: * Rhythm control with DC cardioversion (+ sedation) * or pharmacological anti-arrhythmics (fleicanide if no structural heart disease, amiodarone if history of structural heart disease). If DC cardioversion is delayed then heparin will be required to anticoagulate the patient.

Answer 122

**Rate control only** * Rate control with beta-blockers or diltiazem. * Need to anticoagulate for 3/52 prior to attempting cardioversion due to the risk of throwing off a clot. You can also perform a TOE to exclude a mural thrombus.

Answer 123

Management focusses on symptomatic relief and control of stroke risk * 1st Line = **Rate Control** (reduces patient's HR to control symptoms) * **Rhythem Control** is only appropriate in certain patients * **Anticoagulation** should be given to males who score 1 or more, and females who score 2 or more in CHADS2VASc

Answer 124

* **1st line**: beta-blocker (bisoprolol) or rate-limiting calcium channel blocker (diltiazem). * **2nd line**: dual therapy of beta blockers and rate limiting CCBs * **Digoxin monotherapy** may be considered in those with non-paroxysmal AF who are sedentary.

Answer 125

* AF secondary to a reversible cause * Heart failure thought to be caused by AF * New-onset AF * Or those for whom a rhythm control strategy would be more suitable based on clinical judgement.

Answer 126

* Electrical cardioversion * Pharmacological cardioversion: amiodarone, fleicanide or sotalol. * Catheter Ablation of the arrhythmogenic focus between the pulmonary veins and left atrium is a final option for rhythm control. But with this method, there is a high risk of reccurence.

Answer 127

* **1st Line**: Direct oral anticoagulants (DOACs) e.g. edoxaban, apixaban, rivaroxaban & dabigatran. These don't require monitoring. * Warfarin - Requires cover with LMWH for 5 days when initiating treatment; and regular INR monitoring. This is the only option for those with Valvular AF * Low Molecular Weight Heparin (LMWH) - e.g. enoxaparin. This is a rare option for those who can't tolerate oral treatment. Requires daily injections.

Answer 128

**Heart failure** **Systemic emboli**: * Ischaemic Stroke * Mesenteric ischaemia * Acute limb ischaemia **Bleeding**: * GI * Intracranial

Answer 129

Infective endocarditis (IE) is the infection of the inner surface of the heart (endocardium), usually the valves.

Answer 130

Infective endocarditis is most commonly seen in patients with a **history of congenital or acquired cardiac disease**: * Ventricular septal defects * Patent ductus arteriosus * Aortic valve abnormalities including bicuspid aortic valve * Tetralogy of fallot

Answer 131

* Male sex * IVDU: predisposition to Staph. aureus infection and right-sided valve disease e.g. tricuspid endocarditis. * Poor dentition and dental infections * Prosthetic valves * Previous history of infective endocarditis * Intravascular devices: central catheters and shunts. * Haemodialysis * HIV infection

Answer 132

More common in Males and the elderly

Answer 133

**Acute vs Chronic** * Acute IE: patient has signs or symptoms for days up to 6 weeks. * Subacute IE: patients has signs or symptoms for 6 weeks up to 3 months. * Chronic IE: patients has signs or symptoms that persist for longer than 3 months. **Valve Type** * Native-valve endocarditis: patient without prosthetic valve implant. * Prosthetic-valve endocarditis

Answer 134

Most common descending: * **Staph. aureus** (most common cause) * **Strep. viridans** used to be the most common. Implicated in patients with poor dental hygiene. * Enterococci * Coagulase negative staphylococci e.g. staph. epidermidis: common inprosthetic valve endocarditis. * Strep. bovis: important link with colorectal cancer. Need to consider colonoscopy and biopsy in these patients. * Fungal * HACEK organisms (Haemophilus, Actinobacillus, Cardiobacterium, Eikenella, Kingella): culture negative causes of IE. * Non-infective: marantic endocarditis (malignancy - pancreatic cancer), Libman-Sacks endocarditis (SLE).

Answer 135

In order for IE to occur you must have the triad of **endothelial damage, platelet adhesion and microbial adherence** When part of the endocardium is damaged, the heart valve forms a local blood clot known as non-bacterial thrombotic endocarditis (NBTE). The platelets and fibrin deposits that form as part of the clotting process allows bacteria to stick to the endocardium leading to the formation of vegetations. The valves do not have a dedicated blood supply and so the body is unable to launch an appropriate immune response to the vegetations.

Answer 136

**Symptoms**: * Fever: most common symptom. * Night sweats * Anorexia * Weight loss * Myalgia **Signs** * Murmur: fever + new murmur is infective endocarditis until proven otherwise * Janeway lesions * Splinter haemorrhages * Osler's nodes * Roth spots * Glomerulonephritis

Answer 137

**Janeway Lesions**: Painless haemorrhagic cutaneous lesions in the palms and soles. **Osler's Nodes**: Painful pulp infarcts on end of fingers

Answer 138

Boat-shaped retinal haemorrhages with pale centres seen on fundoscopy

Answer 139

* Non-infectious endocarditis/Nonbacterial thrombotic endocarditis (NBTE) * Rheumatic Fever

Answer 140

Modified Duke Criteria

Answer 141

For a definitive diagnosis: two major criteria, or one major and three minor criteria or all five minor criteria must be present. **Major Criteria** * Blood culture positive for IE (2 x separate positive blood cultures showing typical microorganisms, or Persistent bacteraemia with 2x blood cultures >12 hours apart or =>3 positive blood cultures with less specific microorganisms, or Single positive blood culture for Coxiella burnetti or positive antibody titre) * Evidence of endocardial involvement with Echocardiography (Transthoracic Echo (TTE) = 1st line, Transoesophageal Echo (TOE) = 2nd line) showing vegetation, abscess, partial dehiscence of prosthetic valve or new valvular regurgitation. **Minor Criteria** * Fever: >38.0 degrees celsius. * Immunological phenomena: Roth spots, splinter haemorrhages or Olser's nodes. * Vascular phenomena: evidence of septic embolis (splenic infarct/abscess), Janeway lesions. * Echocardiogram minor criteria: not meeting major criteria. * Predisposing features: known valvular disease, IVDU, prosthetic valves etc. * Microbiological evidence that does not meet major criteria: blood culture not meeting major criteria, or serological evidence of active infection with organism consistent with IE

Answer 142

* ECG: increasing prolongation of PR interval suggests development and worsening of aortic root abscess. * Urine dip: look for haematuria which may suggest development of glomerulonephritis. * Routine bloods: significant elevation of inflammatory markers (in Acute IE) or Normocytic anaemia (in Subacute/chronic IE) * CT CAP: used to look for evidence of septic emboli

Answer 143

Mainstay of treatment = Prolonged course of IV antibiotics (~ 6/52) **Blind Therapy** * Native valve: amoxicillin (+/- gentamicin) * Pen-allergy/MRSA: vancomycin (+/- gentamicin) * Prosthetic valve: vancomycin + rifampicin + gentamicin **Native Valve S. aureus IE** * 1st line: flucloxacillin * 2nd line: vancomycin + rifampicin **Prosthetic Valve S. aureus IE** * 1st line: flucloxacillin + rifampicin + gentamicin **Strep viridans IE** * 1st line: benzylpenicillin * 2nd line: vancomycin + gentamicin **HACEK IE** * 1st line: ceftriaxone Surgery can also be indicated in certain situations

Answer 144

haemodynamic instability Severe heart failure Severe sepsis despite antibiotics/failed medical therapy Valvular obstruction Infected prosthetic valve Persistent bacteraemia Repeated emboli Aortic root abscess (PR interval prolongation)

Answer 145

* Acute valvular insufficiency causing heart failure * Neurologic complications e.g. stroke, abscess, haemorrhage (mycotic aneurysm) * Embolic complications causing infarction of kidneys, spleen or lung * Infection e.g. osteomyelitis, septic arthritis

Answer 146

It's a serious mental health disorder characterized by self-imposed starvation and a relentless pursuit of extreme thinness. Individuals with anorexia nervosa have a distorted body image, viewing themselves as overweight even when they are dangerously underweight.

Answer 147

**Restrictive Subtype**: Characterized by minimal food intake and excessive exercise. **Bulimic Subtype**: Involves episodic binge eating followed by behaviors like laxative use or induced vomiting.

Answer 148

**ICD-11** * Significantly Low Body Weight * Fear of Gaining Weight * Distorted Body Image * Restrictive Eating **DSM-5** * Restriction of Energy Intake * Intense Fear of Gaining Weight * Body Image Disturbance

Answer 149

* Most common in adolescents and young adults (highest incidence = 13-17) * More common in females * More common in industrialized countries * Often occurs alongside other psychiatric disorders e.g. depression and anxiety

Answer 150

* Preoccupation with food and calories * Starvation via restricting intake, purging (through induced emesis, diuretic or laxative abuse) or excessive exercise * Poor insight * Overvalued, intrusive obsession with weight, shape and fear of becoming fat * Weight/calorie goals in mind regardless of their impact on physical health

Answer 151

* BMI <17.5 kg/m2 (contrast with bulimia nervosa, where there may be many similar features, but the BMI is normal‚ a key distinguishing feature) * Hypotension * Bradycardia * Enlarged salivary glands * Lanugo hair (fine hair covering the skin) * Amenorrhoea (hypogonadotropic hypogonadism) Additional features in the 'bulimic' subtype may include hypokalaemic hypochloraemic metabolic alkalosis, pitted teeth, parotid swelling, and scarring of the dorsum of the hand (Russell’s sign).

Answer 152

* Deranged electrolytes - typically low calcium, magnesium, phosphate and potassium * Low sex hormone levels (FSH, LH, oestrogen and testosterone) * Leukopenia * Raised growth hormone and cortisol levels (stress hormones) * Hypercholesterolaemia * Metabolic alkalosis, either due to vomiting or use of diuretics

Answer 153

1st Line (for u18s) = Anorexia Nervosa focussed family therapy 2nd Line = Cognitive -Behavioural Therapy for Eating Disorders (CBT-ED) In adults, other options include: * MANTRA (Maudsley Model of Anorexia Nervosa Treatment for Adults) * Specialist Supportive Clinical Management (SSCM) * Selective serotonin release inhibitors (SSRIs)

Answer 154

* Refeeding syndrome * Cardiac arrhythmias (Bradycardia and prolonged QTc are often seen) * Osteoporosis (Long Term)

Answer 155

It is potentially fatal disorder that occurs when nutritional intake is resumed too rapidly after a period of low caloric intake

Answer 156

oedema confusion tachycardia

Answer 157

Rapidly increasing insulin levels lead to shifts of potassium, magnesium and phosphate from extracellular to intracellular spaces‚ these therefore need to be replenished.

Answer 158

* The provision of high-dose vitamins (eg. Pabrinex) before feeding commences * Monitoring with daily bloods and replenishing electrolytes early * Building caloric intake gradually with the help of a dietitian (no more than 50% of calorie requirement in 'patients who have eaten little or nothing for more than 5 days')

Answer 159

It is characterized by recurrent binge-eating episodes with a loss of control, followed by inappropriate compensatory behaviors to prevent weight gain. Compensatory behaviors include self-induced vomiting, laxative or diuretic misuse, fasting, or excessive exercise. Behaviours/episodes occur once a week or more for one month.

Answer 160

It primarily affects late adolescents and young adults More common in Female

Answer 161

**Psychological Symptoms**: * Binge Eating * Purging: Induced vomiting, laxative or diuretic misuse, and excessive exercise. * Body Image Distortion **Physical Symptoms/Signs** * Dental Erosion (from recurrent self-induced vomiting). * Parotid Gland Swelling (from recurrent self-induced vomiting) * Russell's Sign = Scarring on the back of the hand or knuckles from repeated self-induced vomiting. * Amenorrhea: Present in 50% despite normal weight. * Excessive Vomiting Complications: Boerhaave syndrome or Mallory-Weiss tear. * Alkalosis, due to vomiting hydrochloric acid from the stomach * Hypokalaemia

Answer 162

* **Anorexia Nervosa** * **Kleine-Levin Syndrome** Characterized by hypersomnia, hypersexuality, and hyperphagia. * **Kluver-Bucy Syndrome** Involves compulsive eating, associated with bilateral medial temporal lobe lesions.

Answer 163

No specific laboratory tests; diagnosis relies on: * Detailed medical history for binge eating and compensatory behaviors. * Comprehensive physical examination for physical signs. * Psychological assessments for associated conditions and body image distortion.

Answer 164

**In Children**: * Bulimia Nervosa Focused Family Therapy (First-line for children) * High-Dose Fluoxetine: Considered in some cases. **In Adults**: * Bulimia Nervosa Focused Guided Self-Help targeting eating behaviors, thought patterns, body image, and self-esteem (First-line treatment in adults)

Answer 165

Cryptorchidism

Answer 166

Cryptorchidism, or undescended testes, is a congenital condition in which one or both of the testes fail to descend into the scrotum before birth. Usually before birth, the testes (which develop in the abdomen and then gradually migrate down through the inguinal canal) will have reached the scrotum prior to birth.

Answer 167

* Family history of undescended testes * Low birth weight * Small for gestational age * Prematurity * Maternal smoking during pregnancy

Answer 168

The absence of one or both testes in the scrotum. This can often be identified during a physical examination.

Answer 169

**Retractile testes** The testes may be in the scrotum at times but can retract into the inguinal canal when the cremaster muscle contracts. **Inguinal hernias** These present with a palpable mass in the inguinal region which can increase in size with crying or straining. **Ectopic testes** This condition is characterized by testes that have deviated from the normal path of descent and are located in abnormal positions, such as the perineum or femoral region.

Answer 170

physical examination ultrasound or MRI (especially in cases of unpalpable testes)

Answer 171

Watching and waiting is appropriate for newborns; as in most cases the testes will descend in the first 3 – 6 months. For those that don't: **Orchidopexy** (surgical correction of undescended testes) should be carried out between 6 and 12 months of age.

Answer 172

Testicular torsion refers to twisting of the spermatic cord with rotation of the testicle. It is a urological emergency, and a delay in treatment increases the risk of ischaemia and necrosis of the testicle.

Answer 173

Most common in boys aged 12-18 but it can occur at any age

Answer 174

The primary cause of testicular torsion is the lack of adequate tissue attachment around the testicle, allowing it to freely rotate within the scrotum.

Answer 175

* **Bell-Clapper deformity**: An anomaly where the testis is inadequately fixed, allowing it to rotate freely. * **Undescended testicle**: Testicles that have not descended fully into the scrotum may be more prone to torsion. * Trauma: Physical injury may precipitate torsion, although it often occurs spontaneously. * Prior intermittent torsion: Those who have previously experienced episodes of intermittent torsion may be at higher risk.

Answer 176

Acute rapid onset unilateral testicular pain, that may be associated with abdominal pain and vomiting. Examination findings: * Firm swollen testicle * Elevated (retracted) testicle * Unilateral loss of cremasteric reflex * Abnormal testicular lie (often horizontal) * Rotation, so that epididymis is not in normal posterior position * Persistent pain despite elevation of the testicle (negative Prehn's sign)

Answer 177

**Epididymitis** This is where there is pain relief upon elevation of the scrotum (but this isn't the case in torsion)

Answer 178

* **Epididymitis** Characterized by a slower onset of pain, presence of urethral discharge, urinary symptoms, and relief with testicular elevation (positive Prehn's sign). * **Orchitis** This condition usually presents with systemic symptoms like fever, along with testicular pain and swelling. * **Trauma** * **Inguinal Hernia** Presents with groin pain, a bulge in the inguinal area, and potential bowel symptoms but without the acute onset of testicular pain.

Answer 179

While diagnosis of testicular torsion primarily relies on clinical features. **Doppler ultrasound** can confirm the diagnosis by demonstrating reduced or absent blood flow to the affected testicle. A scrotal ultrasound can aslo show the whirlpool sign, a spiral appearance to the spermatic cord and blood vessels.

Answer 180

* Nil by mouth, in preparation for surgery * Analgesia as required * Urgent senior urology assessment * Surgical exploration of the scrotum then either: **Orchiopexy** (correcting the position of the testicles and fixing them in place) ... OR **Orchidectomy** (removing the testicle) if the surgery is delayed or there is necrosis

Answer 181

* Testicular necrosis: Lack of blood flow can cause tissue death, requiring surgical removal. * Impaired fertility (or complete infertility)

Answer 182

It's defined as the onset of secondary sexual characteristics before the age of: * 8 in females * 9 in males

Answer 183

More common in females

Answer 184

* Gonadotrophin-dependent precocious puberty (GDPP) * Gonadotrophin-independent precocious puberty (GIPP)

Answer 185

* Idiopathic (>90% of cases) * Brain tumours * Cranial radiotherapy * Structural brain damage, such as: Hydrocephalus Post-infection (e.g., meningitis) Traumatic head injury

Answer 186

* Gonadal tumours * Adrenal or liver tumours (which may cause virilisation) * Congenital adrenal hyperplasia

Answer 187

* Rapid growth * Early development of secondary sexual characteristics (such as breast development in girls, enlargement of the testicles or penis in boys, and pubic or underarm hair in both) * Menstruation in girls * Acne * Adult body odour * Emotional and behavioural changes

Answer 188

* **Thyroid disorders** Symptoms may include rapid growth, weight loss, sweating, behavioural changes, and irregular menstruation in girls. * **Growth hormone excess (Gigantism/Acromegaly)** Signs may include rapid growth, increased size of hands and feet, coarsened facial features, joint pain, and excessive sweating. * **McCune-Albright Syndrome** Signs and symptoms can include early puberty, fibrous dysplasia, and café-au-lait spots on the skin. * **Adrenal Tumours** May cause signs of virilisation such as deepening of voice, excessive body hair, and masculine body changes.

Answer 189

* Measurement of oestradiol/testosterone levels * Measurement of adrenal androgens * Brain MRI * Pelvic ultrasound * Intra-abdominal imaging if an adrenal or hepatic tumour is suspected * Bone age assessment

Answer 190

The use of GnRH analogues to suspend the progression of puberty. However, the approach may vary depending on the underlying cause

Answer 191

* Accelerated skeletal development and premature fusion of bone growth plates, which can result in a reduced final adult height. * Early onset of physical changes can significantly impact the affected child's psychological wellbeing.

Answer 192

Hypothyroidism is an endocrine disorder characterized by an insufficient production of thyroid hormones, which are crucial for metabolism and energy utilization in the body. Hypothyroidism in children can either be: * Congenital * Acquired

Answer 193

This is where the child is born with an underactive thyroid gland. It can be the result of an underdeveloped thyroid gland (**dysgenesis**) or a fully developed gland that does not produce enough hormone (**dyshormonogenesis**).

Answer 194

More common in females

Answer 195

Autoimmune thyroiditis (also known as Hashimoto’s thyroiditis) This causes autoimmune inflammation of the thyroid gland and subsequent under activity of the gland

Answer 196

* Antithyroid peroxidase (anti-TPO) antibodies * Antithyroglobulin antibodies

Answer 197

Other autoimmune conditions, particularly type 1 diabetes and coeliac disease.

Answer 198

* Prolonged neonatal jaundice * Poor feeding * Constipation * Increased sleeping * Reduced activity * Slow growth and development

Answer 199

* Fatigue and low energy * Poor growth * Weight gain * Poor school performance * Cold intolerance * Constipation * Dry and thick skin * Brittle hair and hair loss (including scant secondary sexual hair) * Puffy face * Queen Anne's sign

Answer 200

loss of outer 1/3 of eyebrows (indicative of hypothyroidism)

Answer 201

* **Iron deficiency anaemia** * **Chronic fatigue syndrome** persistent fatigue, unrefreshing sleep, cognitive impairment. * **Depression**

Answer 202

* Full thyroid function blood tests (TSH, T3 and T4) = First line * Thyroid ultrasound * Thyroid antibodies (Anti-TPO, Anti-thyroglobulin, Anti-TSH receptor)

Answer 203

First Line = Hormone replacement with **Levothyroxine** Review the patient and re-check TSH levels every 3 months after initiation levothyroxine therapy and adjust the dose according to symptoms and TFT results.

Answer 204

Delayed puberty is defined as the absence of any signs of pubertal development by the age of: * 14 in boys * 13 in girls

Answer 205

A Constitutional delay of growth and puberty, often seen in 'late bloomers'.

Answer 206

Hypogonadism refers to a lack of the sex hormones, oestrogen and testosterone. A lack of these hormones causes a delay in puberty.

Answer 207

* **Hypogonadotrophic hypogonadism**: a deficiency of LH and FSH * **Hypergonadotrophic hypogonadism**: a lack of response to LH and FSH by the gonads (the testes and ovaries)

Answer 208

It is the result of abnormal functioning of the hypothalamus or pituitary gland; which can be due to: * Previous damage to the hypothalamus or pituitary e.g. by radiotherapy or surgery for previous cancer * Growth hormone deficiency * Hypothyroidism * Hyperprolactinaemia (high prolactin) * Serious chronic conditions can temporarily delay puberty (e.g. cystic fibrosis or inflammatory bowel disease) * Excessive exercise or dieting can delay the onset of menstruation in girls * Constitutional delay in growth and development * Kallman syndrome

Answer 209

Hypogonadotrophic hypogonadism is where there's a deficiency of LH and FSH (gonadotrophs), leading to a deficiency of the sex hormones testosterone and oestrogen. This occurs as there's no gonadotrophs stimulating the gonads, so they don't respond by producing testosterone or oestrogen.

Answer 210

This is where the gonads fail to respond to stimulation from the gonadotrophins (LH and FSH). There is no negative feedback from the sex hormones (testosterone and oestrogen), therefore the anterior pituitary produces increasing amounts of LH and FSH to try harder to stimulate the gonads. Therefore, you get high gonadotrophins (“hypergonadotrophic”) and low sex hormones (“hypogonadism”).

Answer 211

It is the result of abnormal functioning of the gonads. This could be due to: * Previous damage to the gonads (e.g. testicular torsion, cancer or infections, such as mumps) * Congenital absence of the testes or ovaries * Kleinfelter’s Syndrome (XXY) * Turner’s Syndrome (XO)

Answer 212

Lack of physical changes that usually occur during puberty at the expected age. These can include: * lack of breast development in girls * lack of testicular enlargement in boys * absence of menstruation in girls * absence of voice changes or facial hair growth in boys * slow growth in height in both sexes.

Answer 213

**Initial Investigations** (to assess for underlying medical conditions): * Full blood count and ferritin for anaemia * U&E for chronic kidney disease * Anti-TTG or anti-EMA antibodies for coeliac disease **Hormonal blood tests**: * Early morning serum FSH and LH (the gonadotropins). (low in hypogonadotrophic hypogonadism and high in hypergonadotrophic hypogonadism). * Thyroid function tests * Growth hormone testing. (Insulin-like growth factor often used as screening for FH deficiency) * Serum prolactin **Genetic Testing** * Microarray test to look for Kleinfelter’s syndrome (XXY) or Turner’s syndrome (XO) **Imaging** * Xray of the wrist to assess bone age and inform a diagnosis of constitutional delay * Pelvic ultrasound in girls to assess the ovaries and other pelvic organs * MRI of the brain to look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome

Answer 214

Depends on the underlying pathology: **Constitutional delay** Reassurance, and regular monitoring of growth and pubertal development may be all that is needed. **Hypogonadotrophic hypogonadism** Hormone replacement therapy, surgery for tumours, or management of the underlying systemic disease. **Hypergonadotrophic hypogonadism** Hormone replacement therapy and supportive care, with specific treatments for conditions like congenital adrenal hyperplasia.

Answer 215

Is an X-Linked recessive inherited condition that results in hypogonadotrophic hypogonadism and a consequent failure to start puberty. Its characterised by a **delay in puberty (in males) alongside a reduced or absent sense of smell (anosmia)**.

Answer 216

In Kallman's syndrome, there is a defect in the migration of neurones within the olfactory placode in the brain. These neurones include olfactory neurones (resulting in either hyposmia (=reduced smell) or anosmia (=no smell)). The other neurones where there's a failure of migration is Gonadotrophin Releasing Hormone (GnRH) Neurones. This results in a decrease in GnRH, which consequently means less LH and FSH (gonadotrophins) is produced. This therefore means that there is less function of the gonads (less testosterone production). The low levels of both Gonadotrophins and testosterone in Kallman's make this a cause of hypogonadotrophic hypogonadism.

Answer 217

It is characterised by a failure in development of both primary and secondary sex characteristics; **alongside hyposmia / anosmia**. **Primary Sex Characteristics** * Small penis and testes * Improper testicular descent * Low sperm count **Secondary Sex Characteristics** * Lack of facial hair * Low muscle * Lack of a deep voice **Extras** * Infertility * Osteoporosis/osteopenia

Answer 218

**Hormonal Blood Tests** * Low GnRH * Low LH and FSH * Low Testosterone * Normal levels of other pituitary hormones **Genetic Testing** * For typical gene mutations associated with Kallman's **Smell Test** **Low Sperm Count**

Answer 219

* Testosterone supplementation * Gonadotrophin supplementation may result in sperm production if fertility is desired later in life

Answer 220

* **Growth hormone (GH)** Promotes growth and metabolism at various sites * **Prolactin** Stimulates breast tissue and induces lactation * **Gonadotrophins: luteinising hormone (LH) and follicle-stimulating hormone (FSH)** Stimulates the gonads to produce sex steroids (oestrogen, testosterone), promotes folliculogenesis and ovulation in females and spermatogenesis in males * **Thyroid stimulating hormone (TSH)** Stimulates thyroid glad to produce thyroid hormone production (T3 and T4) * **Adrenocorticotrophin (ACTH)** Stimulates the adrenal gland to produce cortisol

Answer 221

* **Oxytocin** Causes uterine contraction in labour, promotes breastfeeding * **Vasopressin/anti diuretic hormone (ADH)** Acts on the kidney to reduce water excretion

Answer 222

Pituitary adenomas are the most common type of pituitary tumors, typically benign and non-secretory in nature (although there can be hormone producing variants)

Answer 223

They can occur at any age, but are more frequently diagnosed in adults

Answer 224

Presentation often arises from local pressure effects on surrounding structures: * Headache: Often persistent and localised to the front of the head. * Visual Field Defects: Depending on the tumor's location within the pituitary gland, patients may experience specific visual field defects, such as bitemporal hemianopia (loss of outer peripheral vision), due to pressure on the optic chiasm.

Answer 225

Diagnostic = **Brain MRI** Others: * Screening Tests for visual field defects * Hormone Tests: If the tumor is suspected of being a functioning (hormone secreting) adenoma

Answer 226

* **Neurosurgery** Trans-sphenoidal surgery is the primary treatment for pituitary adenomas. It involves accessing the pituitary gland through the sphenoid sinus to remove the tumor. * **Radiotherapy** In cases where complete tumor removal is not possible or when the tumor recurs after surgery, radiotherapy may be used to manage the residual tumor. * **Medications** Some functioning adenomas can be managed with medications that target hormone overproduction.

Answer 227

* **Hormonal Imbalances** Functioning adenomas can lead to various hormonal disorders. * **Recurrence** In some cases, adenomas may return after treatment and require further intervention. * **Surgical Risks** Surgery to remove the tumor carries inherent risks, including damage to surrounding structures and potential hormonal deficiencies.

Answer 228

Prolactinomas are pituitary tumors characterized by excessive production of prolactin.

Answer 229

* Microadenomas (less than 10mm) * Macroadenomas (greater than 10mm)

Answer 230

Prolactinomas are the most common hormone-secreting tumors originating in the pituitary gland.

Answer 231

Presentation varies by gender: **Women** * Oligomenorrhea or amenorrhea * galactorrhea (breast milk production outside of pregnancy or breastfeeding) * infertility * vaginal dryness. **Men** * Erectile dysfunction * reduced facial hair growth. **In Both Sexes** Tumor-related symptoms, such as headaches and visual field defects.

Answer 232

* **MRI Brain** Microadenomas appear as pituitary lesions, while macroadenomas present as space-occupying tumors within the pituitary region. * **Serum Prolactin** Elevated levels of prolactin in the blood are a key diagnostic marker.

Answer 233

**Pharmacological**: * Dopamine Agonists (e.g. Cabergoline): These drugs reduce serum prolactin levels, alleviate galactorrhea, and restore gonadal function. * Hormone Replacement Therapy: Used when fertility and galactorrhea are not primary concerns, typically involving estrogen replacement. **Surgery** * Trans-sphenoidal resection is indicated when medical treatment fails to manage the tumor effectively. **Radiotherapy** Reserved for cases where other treatments are unsuccessful.

Answer 234

Hypopituitarism refers to a condition marked by the inadequate production of hormones by the pituitary gland. This can encompass deficiencies in growth hormone, gonadotropins (FSH and LH), thyroid-stimulating hormone (TSH), adrenocorticotropic hormone (ACTH), and antidiuretic hormone (ADH).

Answer 235

* pituitary tumors * surgery * radiation therapy * infections * congenital disorders.

Answer 236

It depends on what hormone is deficient: **Growth Hormone Deficiency** * central obesity * dry skin * reduced muscle strength * decreased exercise tolerance. **FSH & LH Deficiency** In Females: Oligomenorrhea or amenorrhea, infertility, sexual dysfunction, and breast atrophy. In Males: Infertility, sexual dysfunction, and hypogonadism. **TSH Deficiency** Results in hypothyroidism **ACTH Deficiency** Leads to adrenal deficiency: * fatigue * reduced muscle mass * anorexia * myalgia * gastrointestinal upset. **ADH Deficiency (Diabetes Insipidus)** Causes excessive thirst and urination due to water imbalance.

Answer 237

* Hormonal Assays (to identify deficiencies in specific hormones) * Brain MRI * Functional tests to evaluate hormone responses

Answer 238

Hormone replacement therapy tailored to the specific hormonal deficiencies present.

Answer 239

Suboptimal growth

Answer 240

A disorder caused by excess amounts of growth hormone with characteristic clinical features.

Answer 241

Gigantism is abnormal growth due to an excess of growth hormone (GH) during childhood

Answer 242

The key difference between gigantism and acromegaly is the **age of onset**. Gigantism occurs before epiphyseal plate closure (which occurs during puberty), leading to **excessive linear growth**. While acromegaly occurs after plate closure, causing enlargement of bones and soft tissues.

Answer 243

* Excess growth hormone (GH) results in excess production of insulin-like growth factor 1 (IGF-1) * The IGF-1 receptor is distributed on a wide variety of tissues, and excess stimulation results in excess growth of these tissues * Excess growth hormone also results in increased gluconeogenesis, lipolysis, and insulin resistance

Answer 244

Exessive Linear Growth making the child extremely large for his or her age. Other symptoms can include: * Delayed puberty * Visual difficulties * Very prominent forehead (frontal bossing) and a prominent jaw * Gaps between the teeth * Headache * Increased sweating

Answer 245

* **Pituitary adenoma** (by far the commonest cause), and can either be sporadic or associated with certain syndromes (e.g. Multiple Endocrine Neoplasia Syndrome Type 1) * **Primary pituitary hyperplasia** (less common), and can again be sporadic or associated with certain syndromes (e.g. McCune-Albright Syndrome)

Answer 246

* **Hypothalamic source** excess GHRH from the hypothalamus causes a secondary pituitary hyperplasia * **Ectopic GHRH release** excess GHRH from ectopic tissue causes a secondary pituitary hyperplasia

Answer 247

* **1st Line** = Insulin-like growth factor 1 * If IGF1 is raised then **glucose tolerance test** is used to confirm the diagnosis (where there'll be a failure of suppression of growth hormone) * Head MRI to check for pituitary tumour

Answer 248

**Surgical** * **1st Line** is transphenoidal resection of the pituitary adenoma +/- radiotherapy * Transfrontal resection of the pituitary is another way to remove tumours **Medical** ( if surgery is contraindicated or the mechanism is not due to a pituitary adenoma) * Somatostatin analogues (octreotide, lanreoride), which suppress growth hormone release (**first line medical treatment**) * Growth hormone antagonists (pegvisomant) * Dopamine agonists (bromocriptine, cabergoline)

Answer 249

It is an endocrine disorder characterized by excess glucocorticoids, often resulting in distinctive clinical symptoms and signs.

Answer 250

This specifically refers to a glucocorticoid excess caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary tumour.

Answer 251

More common in adults (although it can still occur in children) More common in females

Answer 252

* **ACTH-dependent disease** This is caused by excessive production of ACTH, most often due to a pituitary tumor (Cushing's disease) or ectopic ACTH-producing tumors (e.g. lung carcinoids, thymic carcinoids, and others). * **ACTH-independent** This arises from primary adrenal diseases, such as adrenal adenomas or adrenal carcinomas, which produce excess cortisol independently of ACTH stimulation. Exogenous steroids can also cause ACTH-ibdependent Cushing's.

Answer 253

* Striae and easy bruising * Glucose intolerance or diabetes mellitus * Obesity, particularly truncal or "centripetal" obesity * Facial changes, such as moon face and acne * Fat redistribution leading to interscapular and supraclavicular fat pads * Thin extremities due to muscle wasting * Thin, fragile skin * Fractures and osteoporosis * Psychological issues, like depression or cognitive dysfunction

Answer 254

Metabolic syndrome Polycystic ovary syndrome Adrenal insufficiency Alcohol excess Depression.

Answer 255

Biochemical evidence of cortisol exess: * 24-hour urinary free cortisol test * Low-dose Dexamethasone suppression test Localisation of source: * Plasma ACTH levels to distinguish between ACTH-dependent and independent causes * High-dose dexamethasone suppression test for suspected Cushing's disease * MRI of the pituitary and/or CT of chest and abdomen for tumor localization

Answer 256

* Cortisol not suppressed by low dose - Cushing’s syndrome (e.g. exogenous steroid use) * Cortisol not suppressed by low dose but suppressed by high dose - Cushing’s disease (pituitary source) * Cortisol not suppressed by low dose or by high dose – ectopic ACTH (not under axis control, likely ACTH-producing tumour)

Answer 257

**Medical** to decrease cortisol levels is 1st line * Metyrapone (an inhibitor of cortisol synthesis) * Ketoconazole (an adrenolytic agent) * Mifepristone (a glucocorticoid receptor antagonist) * Pasireotide (a somatostatin analog) **Surgical** * Resection of the pituitary tumor is the treatment of choice for Cushing's disease (often after initial control of hypercortisolaemia with medical therapy) **Radiotherapy** * May be considered for cases where hypercortisolaemia persists post-surgery, or in cases where surgery is not possible or declined. Successful treatment of Cushing's disease leads to cortisol deficiency and subsequently, steroid replacement post-operatively is essential.

Answer 258

Congenital Adrenal Hyperplasia (CAH) represents a collection of autosomal recessive disorders characterised by impaired steroid hormone synthesis within the adrenal cortex due to enzyme defects.

Answer 259

A **deficiency in 21-hydroxylase** An enzyme critical for the production of the glucocorticoids and mineralocorticoids, cortisol and aldosterone. a deficiency of 11-beta-hydroxylase (is the issue in a small number of cases)

Answer 260

21-hydroxylase is the enzyme responsible for converting progesterone into aldosterone and cortisol. Progesterone is also used to create testosterone, but this conversion does not rely on the 21-hydroxylase enzyme. In CAH, there is a defect in the 21-hydroxylase enzyme. Therefore, because there is extra progesterone floating about that cannot be converted to aldosterone or cortisol, it gets converted to testosterone instead. The result is a patient with **low aldosterone, low cortisol and abnormally high testosterone**.

Answer 261

Female patients present with virilised genitalia, also known as “ambiguous genitalia” and an enlarged clitoris. Patients present shortly after birth with **hyponatraemia**, **hyperkalaemia** and **hypoglycaemia** causing symptoms like: * Poor feeding * Vomiting * Dehydration * Arrhythmias

Answer 262

Patients who are less severely affected present during childhood or after puberty. Their symptoms tend to be related to **high androgen levels**. In Females: * Tall for their age * Facial hair * Absent periods * Deep voice * Early puberty In Males: * Tall for their age * Deep voice * Large penis * Small testicles * Early puberty

Answer 263

Hyperpigmentation occurs because the anterior pituitary gland responds to the low levels of cortisol by producing increasing amounts of ACTH. A byproduct of the production of ACTH is melanocyte simulating hormone. This hormone stimulates the production of melanin (pigment) within skin cells.

Answer 264

* Blood tests: Specific hormone assays such as 17-hydroxyprogesterone, cortisol, and ACTH levels. **Elevated 17-hydroxyprogesterone and ACTH with low cortisol suggest CAH**. * Genetic testing: Can confirm the diagnosis and identify the specific enzyme defect. * Imaging: (e.g.ultrasound) can help in the assessment of internal sex organs in patients with ambiguous genitalia.

Answer 265

**Acute treatment** * Fluid and sodium replacement with intravenous saline (if salt-wasting) * administration of hydrocortisone for its glucocorticoid and mineralocorticoid effects. **Long-term treatment** Lifelong hormone replacement therapy, typically with hydrocortisone and fludrocortisone as needed. **Surgical intervention** In virilised females, genital surgery may be necessary to correct external genital abnormalities. **Patient education** Those dependent on steroids should be educated about the critical importance of adhering to their medication regimen and following 'sick day' rules.

Answer 266

Androgen insensitivity syndrome is a condition where cells are unable to respond to androgen hormones due to a lack of androgen receptors in males. This means there is extra androgens which are converted into oestrogen, resulting in female secondary sexual characteristics. It was previously known as testicular feminisation syndrome.

Answer 267

An X-linked recessive genetic mutation in the androgen receptor gene on the X chromosome.

Answer 268

Patients are genetically male, with XY sex chromosome. However, the absent response to testosterone and the conversion of additional androgens to oestrogen result in a female phenotype externally. Typical male sexual characteristics do not develop, and patients have normal female external genitalia and breast tissue.

Answer 269

As their testes (which are located in abdomen or inguinal canal) still produce anti-müllerian hormone which prevents the development of the upper vagina, uterus, cervix and fallopian tubes.

Answer 270

It either presents in infancy with inguinal hernias containing testes. Or it presents at puberty with primary amenorrhoea.

Answer 271

* Raised LH * Normal or raised FSH * Normal or raised testosterone levels (for a male) * Raised oestrogen levels (for a male)

Answer 272

* Bilateral orchidectomy (removal of the testes) to avoid testicular tumours * Oestrogen therapy * Vaginal dilators or vaginal surgery can be used to create an adequate vaginal length Generally, patients are raised as female, but this is sensitive and tailored to the individual. They are offered support and counselling to help them understand the condition and promote their psychological, social and sexual wellbeing.

Answer 273

* Patients are infertile * There is an increased risk of testicular cancer unless the testes are removed.

Answer 274

Its defined as a low level of haemoglobin in the blood (below the age (and sex-) specific normal ranges.)

Answer 275

* **Birth** - 150 – 235 grams/litre * **2 – 4 weeks** - 135 – 190 grams/litre * **4 – 8 weeks** - 95 – 130 grams/litre * **2 months – 6 years** - 110 – 140 grams/litre * **6 – 12 years**- 115 – 155 grams/litre * **Female age 12 – 18** - 120 – 160 grams/litre * **Male aged 12 – 18** - 130 -160 grams/litre

Answer 276

* **Microcytic anaemia** <80 * **Normocytic anaemia** 80 - 100 * **Macrocytic anaemia** > 100

Answer 277

**Physiologic Anaemia of Infancy** There is a normal dip in haemoglobin around six to nine weeks of age in healthy term babies. High oxygen delivery to the tissues caused by the high haemoglobin levels at birth cause negative feedback. Production of erythropoietin by the kidneys is suppressed and subsequently there is reduced production of haemoglobin by the bone marrow. The high oxygen results in lower haemoglobin production.

Answer 278

* Anaemia of prematurity * Blood loss * Haemolysis * Twin-twin transfusion, where blood is unequally distributed between twins that share a placenta

Answer 279

* Haemolytic disease of the newborn (ABO or rhesus incompatibility) * Hereditary spherocytosis * G6PD deficiency

Answer 280

Premature neonates are much more likely to become significantly anaemic during the first few weeks of life compared with term infants. The more premature (and the more unwell) the infant, the more likely they will be anaemic.

Answer 281

* Less time in utero receiving iron from the mother * Red blood cell creation cannot keep up with the rapid growth in the first few weeks * Reduced erythropoietin levels * Blood tests remove a significant portion of their circulating volume

Answer 282

(TAILS) **T** – Thalassaemia **A** – Anaemia of chronic disease **I** – Iron deficiency anaemia **L** – Lead poisoning **S** – Sideroblastic anaemia

Answer 283

(3 As and 2 Hs) **A** – Acute blood loss **A** – Anaemia of Chronic Disease **A** – Aplastic Anaemia **H** – Haemolytic Anaemia **H** – Hypothyroidism

Answer 284

* Megaloblastic anaemia - the result of impaired DNA synthesis preventing the cell from dividing normally. * Normoblastic anaemia

Answer 285

* B12 deficiency * Folate deficiency

Answer 286

* Alcohol * Reticulocytosis (usually from haemolytic anaemia or blood loss) * Hypothyroidism * Liver disease * Drugs such as azathioprine

Answer 287

**Symptoms** * Tiredness * Shortness of breath * Headaches * Dizziness * Palpitations * Worsening of other conditions Pica and Hair loss for Iron deficiency **Signs** * Pale skin * Conjunctival pallor * Tachycardia * Raised respiratory rate **Others**: * Koilonychia - spoon shaped nails (iron deficiency) * Angular chelitis (iron deficiency) * Atrophic glossitis - smooth tongue due to atrophy of the papillae (iron deficiency) * Brittle hair and nails (iron deficiency) * Jaundice (haemolytic anaemia) * Bone deformities (thalassaemia)

Answer 288

* **Full Blood Count (FBC)** For determining haemoglobin levels, red cell count and other important parameters. * **Reticulocyte Count** To assess bone marrow response. * **Iron studies** For diagnosing iron deficiency anaemia. * **Vitamin B12 and Folate levels** * **Genetic testing** For conditions like thalassemia and sickle cell disease.

Answer 289

Depends on the underlying cause: * **Iron supplementation** In cases of iron deficiency, often coupled with dietary advice. * **Vitamin B12 or Folate supplementation** In cases of their respective deficiencies. * **Transfusion** In severe cases of anaemia, blood transfusion may be necessary. * **Treatment of underlying diseases** Conditions like chronic renal failure or infection require specific treatment.

Answer 290

Thalassaemia is a group of inherited disorders characterised by abnormal haemoglobin production. Defects in the four genes that form α-globin result in α-thalassaemia. While defects in the two genes for β-globin result in β-thalassaemia. The clinical severity of the syndrome is proportional to the number of absent or abnormal genes.

Answer 291

It's prevalent in populations originating from Mediterranean Europe, Central Africa, the Middle East, the Indian subcontinent and Southeast Asia.

Answer 292

Autosomal recessive

Answer 293

Its caused by caused by nonfunctioning copies of the four α-globin genes on **chromosome 16**. * Patients with **two defective copies** have a mild asymptomatic anaemia – so-called α-thalassaemia trait * Those with **three defective copies** have symptomatic haemoglobin H disease * Inheritance of **four defective copies** (hydrops fetalis) is incompatible with life The lack of α-globin chains results in excess γ-chains (creating Hb Barts), which are poor carriers of oxygen owing to their high affinity for oxygen.

Answer 294

Its caused by caused by nonfunctioning copies of the two β-globin genes located on **chromosome 11**. There are 3 types based on the type of defect: * **Thalassaemia minor** Patients have one abnormal and one normal gene. It causes a mild microcytic anaemia and usually only requires monitoring and no active treatment. * **Thalassaemia intermedia** Patients have two abnormal copies of the beta globin gene. This can be either two defective genes or one defective gene and one deletion gene.It causes a more significant microcytic anaemia. Patients require monitoring and occasional blood transfusions. * **Thalassaemia major** Patients are homozygous for the deletion genes. They have no functioning beta globin genes at all. This is the most severe form and usually presents with severe anaemia and failure to thrive in early childhood.

Answer 295

* Microcytic anaemia (low mean corpuscular volume) * Fatigue * Pallor * Jaundice * Gallstones * Splenomegaly * Poor growth and development * Pronounced forehead and malar eminences * Failure to thrive in infants

Answer 296

In thalassaemia the red blood cells are more fragile and break down more easily. The spleen acts as a sieve to filter the blood and remove older blood cells. In patients with thalassaemia, the spleen collects all the destroyed red blood cells, resulting in splenomegaly.

Answer 297

* Full blood count shows a microcytic anaemia. * Haemoglobin electrophoresis is diagnostic for globin abnormalities. * DNA testing can be used to look for the genetic abnormality.

Answer 298

* Blood transfusions * Splenectomy is an option * Bone marrow (stem cell) transplant can be curative * Regular folic acid can also be given, especially in those who are pregnant.

Answer 299

* Regular blood transfusions * Hydroxycarbamide * Bone marrow transplant can be curative

Answer 300

Iron overload

Answer 301

* Fatigue * Liver cirrhosis * Infertility * Impotence * Heart failure * Arthritis * Diabetes * Osteoporosis and joint pain

Answer 302

* Iron Chelation (Desferrioxamine, Deferiprone, Deferasirox) * Limiting transfusions

Answer 303

* Cardiomyopathy/cardiac arrhythmia/cardiac failure * Acute sepsis – bacterial sepsis (risk is further increased after splenectomy) * Liver cirrhosis, portal hypertension and acute decompensation * Hypocalcaemia with tetany due to hypoparathyroidism * Diabetes

Answer 304

Haemolytic Disease of the Newborn (HDN) is an immunological condition that arises when a rhesus negative mother becomes sensitised to the rhesus positive blood cells of her baby while in utero.

Answer 305

HDN occurs due to an immune response following rhesus or ABO blood group incompatibility between the mother and foetus. Sesitisation events where the mother and foetus's blood can mix include: * Antepartum haemorrhage * placental abruption * abdominal trauma * external cephalic version * invasive uterine procedures such as amniocentesis and chorionic villus sampling * rhesus positive blood transfusion to a rhesus negative woman * intrauterine death * miscarriage or termination * ectopic pregnancy * delivery

Answer 306

* Hydrops foetalis appearing as foetal oedema in at least two compartments, seen on antenatal ultrasound * Yellow coloured amniotic fluid due to excess bilirubin * Neonatal jaundice and kernicterus * Foetal anaemia causing skin pallor * Hepatomegaly or splenomegaly * Severe oedema if hydrops foetalis was present in utero

Answer 307

* **Spherocytosis** Characterised by haemolytic anaemia, jaundice, and splenomegaly * **G6PD deficiency** Causes episodic haemolysis, jaundice and pallor * **Thalassemia** Presents with anaemia, hepatosplenomegaly, and jaundice

Answer 308

* Direct Antiglobulin Test (DAT) * Ultrasound to detect foetal oedema * Liver function tests (LFTs) to check for complications

Answer 309

* Intrauterine transfusions if severe anaemia is detected in the foetus * Early delivery if the condition is severe * Postnatal management with phototherapy or exchange transfusion to manage high bilirubin levels * Immunoglobulin administration to the newborn to prevent further haemolysis * Regular follow-up to assess for any developmental issues

Answer 310

Sickle cell disease is a disorder affecting red blood cells, originating from an autosomal-recessive single gene defect in the beta chain of haemoglobin (chromosome 11). This defect leads to the production of an abnormal form of haemoglobin, referred to as sickle cell haemoglobin (HbS).

Answer 311

Most prevalent in individuals of African, Hispanic, and Mediterranean descent.

Answer 312

The characteristic sickle-shaped red blood cells are susceptible to clumping (aggregation) and premature destruction (haemolysis). These events can result in obstructed blood flow, precipitating painful vaso-occlusive crises, damage to major organs, and increased susceptibility to severe infections.

Answer 313

Having one copy of the gene (sickle cell trait) reduces the severity of malaria. As a result, patients with sickle cell trait are more likely to survive malaria and pass on their genes.

Answer 314

* **Vaso-occlusive crises** characterized by severe pain due to tissue ischaemia * **Anaemia** (due to increased haemolysis of sickled cells) * **Jaundice** (a consequence of haemolysis) * **Episodes of acute chest syndrome** (resulting from lung infarction)

Answer 315

Sickle cell crisis refers to a spectrum of acute exacerbations caused by sickle cell disease. These range from mild to life-threatening. They can occur spontaneously or triggered by dehydration, infection, stress or cold weather. They're managed supportively with: * Treating infections that may have triggered the crisis * Keep warm * Good hydration (IV fluids may be required) * Analgesia

Answer 316

Also known as painful crisis and is the most common type of sickle cell crisis. It is caused by the sickle-shaped red blood cells clogging capillaries, causing distal ischaemia. Presents with: * Typically pain and swelling in the hands or feet * But can also affect the chest, back, or other body areas. * Can be associated with fever. * Priapism

Answer 317

Is caused by a vaso-occlusive crisis. It occurs by trapping blood in the penis, causing a painful and persistent erection. Priapism is a urological emergency, treated by aspirating blood from the penis.

Answer 318

It's is caused by red blood cells blocking blood flow within the spleen. It causes an acutely enlarged and painful spleen. Blood pooling in the spleen can lead to severe anaemia and hypovolaemic shock. Its an emergency and is treated with blood transfusions and fluid resuscitation to treat anaemia and shock. Splenectomy prevents sequestration crises and can be used in recurrent cases. Splenic sequestration crisis can lead to splenic infarction, leading to hyposplenism and susceptibility to infections, particularly by encapsulated bacteria (e.g., Streptococcus pneumoniae and Haemophilus influenzae).

Answer 319

It describes a temporary absence of the creation of new red blood cells. It is usually triggered by infection with parvovirus B19. It leads to significant anaemia (aplastic anaemia). Management is with blood transfusions if necessary. But It usually resolves spontaneously within around a week.

Answer 320

Acute chest syndrome occurs when the vessels supplying the lungs become clogged with red blood cells. A vaso-occlusive crisis, fat embolism or infection can trigger it. It presents with: * fever * shortness of breath * chest pain * cough * hypoxia * A chest x-ray will show pulmonary infiltrates.

Answer 321

Acute chest syndrome is a medical emergency with high mortality. It requires prompt supportive management and treatment of the underlying cause: * Analgesia * Good hydration (IV fluids may be required) * Antibiotics or antivirals for infection * Blood transfusions for anaemia * Incentive spirometry using a machine that encourages effective and deep breathing * Respiratory support with oxygen, non-invasive ventilation or mechanical ventilation

Answer 322

* Other causes of haemolytic anaemia e.g. thalassaemia and G6PD deficiency, which can also present with jaundice and anaemia. * Autoimmune disorders, which can cause a chronic inflammatory state. * Conditions causing painful crises unrelated to vaso-occlusion, e.g. fibromyalgia

Answer 323

* **Complete blood count**: to detect the presence of anaemia * **Peripheral blood smear**: to visually identify sickle-shaped cells * **Haemoglobin electrophoresis**: to confirm the presence of HbS

Answer 324

**Acute Management**: * Pain relief: Strong analgesics (often IV opiates) for vaso-occlusive crises * Oxygen supplementation: As required, particularly in cases of acute chest syndrome * Intravenous fluids: To maintain hydration and improve blood flow * Top-up transfusions: May be required in severe crises or aplastic crisis **Long-term Management**: * Regular transfusions, folic acid supplementation, and iron chelation therapy (To manage chronic haemolytic anaemia) * Prophylactic antibiotics: In asplenic patients to prevent infections * Immunisations: Regular influenza and pneumococcal vaccines * Genetic counselling: Available for affected individuals and their families * Hydroxycarbamide * Crizanlizumab * Bone marrow transplant can be curative

Answer 325

It works by stimulating the production of fetal haemoglobin (HbF). Fetal haemoglobin does not lead to the sickling of red blood cells (unlike HbS). It therefore reduces the frequency of vaso-occlusive crises, improves anaemia and may extend lifespan.

Answer 326

Crizanlizumab is a monoclonal antibody that targets P-selectin. P-selectin is an adhesion molecule found on endothelial cells on the inside walls of blood vessels and platelets. It therefore prevents red blood cells from sticking to the blood vessel wall and reduces the frequency of vaso-occlusive crises.

Answer 327

Haemophilia A and B are both X-linked recessive inherited bleeding disorders. * Haemophilia A is caused by a deficiency in clotting factor VII * Haemophilia B is caused by a deficiency in clotting factor IX

Answer 328

**Haemophilia A** (1 in 5,000 men) while Haemophilia B is (1 in 25,000 men)

Answer 329

* Patients can bleed excessively in response to minor trauma and are at risk of spontaneous bleeding without any trauma. * Most cases present in neonates or early childhood with spontaneous deep and severe bleeding into soft tissues, joints and muscles. As well as possible intracranial haemorrhage, haematomas and cord bleeding. * Bleeding into joints (haemarthrosis) can result in a deforming arthropathy.

Answer 330

* **Von Willebrand Disease** This inherited bleeding disorder is often confused with hemophilia due to similar symptoms. * **Factor Deficiencies** Rarer deficiencies in factors I, V, VII, X, XI, and XIII, can lead to bleeding tendencies and mimic haemophilia. * **Platelet Disorders** E.g. idiopathic thrombocytopenic purpura (ITP) and thrombocytopathy can result in bleeding symptoms and should be considered. * **Liver Disease** Liver dysfunction can lead to impaired synthesis of clotting factors, resembling a bleeding disorder. * **Haematological Malignancies** e.g. Leukemias, lymphomas, and myelodysplastic syndromes

Answer 331

**Diagnosis** - factor VIII/IX assay (Coagulation factor assays) Blood Tests: * Clotting profile - APTT is elevated * vWF antigen is normal in haemophilia A * Defective platelet function

Answer 332

* The affected clotting factors (VIII or IX) can be given by intravenous infusion, either regularly or in response to bleeding. * In more severe cases the recombinant clotting factor is more likely to be goven prophylactically. * In minor bleeds in patients with haemophilia A, Desmopressin can be given (as it increases factor VIII levels). * Gene therapy has been shown to be succesful. * Supportive management involves antifibrinolytics (eg. tranexamic acid) and vaccination against Hep B.

Answer 333

Some patients form antibodies (called inhibitors) against the clotting factor, resulting in the treatment becoming ineffective; which can worsen bleeding and complicate therapy.

Answer 334

Von Willebrand disease is an inherited bleeding disorder characterized by a reduced quantity or function of von Willebrand factor (VWF).

Answer 335

Von Willebrand disease (VWD) is the most common inherited cause of abnormal and prolonged bleeding. It occurs equally in men and women, but women are more likely to experience symptoms due to the increased bleeding it causes during their menstrual periods, pregnancy, and childbirth.

Answer 336

In VWD there is a deficiency, absence or malfunctioning of a glycoprotein called von Willebrand factor (VWF). This protein normally links platelets to the exposed endothelium and stabilises clotting factor VIII, and its deficiency or dysfunction leads to an increased risk of bleeding.

Answer 337

Autosomal dominant

Answer 338

* **Type 1** - partial deficiency of VWF (most common and mildest type) * **Type 2** - reduced function of VWF * **Type 3** - complete deficiency of VWF (most rare and severe type)

Answer 339

* Excess or prolonged bleeding from minor wounds * Excess or prolonged bleeding post-operatively * Easy bruising * Menorrhagia * Epistaxis * GI bleeding

Answer 340

**Haemophilia** Presents with similar symptoms. But bleeding into joints or muscles is more common in haemophilia. While in VWD, menorrhagia and GI bleeding are more common.

Answer 341

* 1st Line - **Clotting tests** ( normal PT and TT. With prolonged APTT (functional factor VIII deficiency) and prolonged bleeding time). * Others - Normal Platlet level, vWF antigen, vWF activity, and factor VIII clotting activity. * Diagnostic - **Von Willebrand factor level and activity assay**

Answer 342

Von Willebrand disease does not usually require daily treatment. Instead, it's done in response to significant bleeding or trauma (to stop bleeding) or in preparation for operations (to prevent bleeding). * **Desmopressin** (stimulates the release of vWF from endothelial cells) (1st Line) * Tranexamic acid (can be given for minor bleeding or prior to surgery on its own or as an adjunctive therapy to desmopressin or concentrates) * Von Willebrand factor infusion * Factor VIII plus von Willebrand factor infusion The last 2 should only be used if desmopressin and tranexamic acid have been unsuccessful and bleeding is persistant.

Answer 343

* Tranexamic acid * Mefenamic acid * Mirena coil * Combined oral contraceptive pill * Norethisterone A hysterectomy (surgical removal of the uterus) may be required in severe cases of heavy menstrual bleeding.

Answer 344

Immune thrombocytopenia purpura (ITP) is an autoimmune condition, characterised by a reduction in the number of circulating platelets. It is a type II hypersensitivity reaction whereby the spleen produces antibodies are directed against the glycoprotein IIb/IIIa or Ib-V-IX complex.

Answer 345

It occurs in 2 populations: * **Children** - where it often presents as a self-limiting disease following a viral infection * **Adults** - where it tends to manifest as a chronic disease with a relapsing course

Answer 346

* Easy or excessive bruising (purpura) * **Petechiae** - Superficial bleeding into the skin that appears as a rash of pinpoint-sized reddish-purple spots; usually on the lower legs. * Prolonged bleeding from cuts * Spontaneous bleeding from the gums or nose - ITP presents with mucocutaenous bleeding (rather than e.g. haemarthrosis which is often associated with defects in the coagulation cascade like in haemophilia) * Blood in urine or stools * Unusually heavy menstrual flow

Answer 347

* **Aplastic anaemia** Fatigue, shortness of breath with exertion, rapid or irregular heart rate, pale skin, frequent or prolonged infections, unexplained or easy bruising, nosebleeds and bleeding gums, prolonged bleeding from cuts, skin rash, dizziness, and headache. * **Leukaemia** * **Thrombotic thrombocytopenic purpura** Purpura, fatigue, fever, thrombocytopenia, haemolytic anaemia, and neurological abnormalities.

Answer 348

* Full Blood Count (FBC) * Blood film * Further tests to exclude other differential diagnoses * Bone marrow examination, which is only required if the case appears atypical

Answer 349

Conservative, with a **watch-and-wait approach** typically adopted due to the high rate of spontaneous remission. * Platelet transfusions should be avoided unless there is life-threatening bleeding. (Because giving more platelets will increase the rate of platelet destruction). * For persistent cases, steroids (immunosuppresant) are used. IVIG can also be used as it is immunomodulatory, reducing antibody production. * In refractory cases, splenectomy may be considered.

Answer 350

Thrombotic thrombocytopenic purpura (TTP) is a condition where tiny thrombi develop throughout the small vessels, using up platelets. As the problem is in the small vessels, it is described as a microangiopathy. It causes: * Thrombocytopenia * Purpura * Tissue ischaemia and end-organ damage

Answer 351

A problem with a specific protein called **ADAMTS13** ADAMTS13 usually: * Inactivates von Willebrand factor * Reduces platelet adhesion to vessel walls * Reduces clot formation

Answer 352

* An inherited genetic mutation (hereditary) * Autoimmune disease, where antibodies are created against the protein (acquired)

Answer 353

Plasma exchange, steroids and rituximab.

Answer 354

Acute lymphoblastic leukaemia (ALL) is a malignant condition that arises from the uncontrolled proliferation of genetically altered lymphoid progenitor cells.

Answer 355

ALL is the most common type of leukaemia in children. The peak incidence is in children is between 2 and 5 years of age. But it shows a bimodal distribution, with a second, smaller peak in adults over the age of 80.

Answer 356

ALL develops when a lymphoid progenitor cell becomes genetically altered through somatic changes, leading to uncontrolled proliferation. This results in early lymphoid precursors replacing the normal haematopoietic cells of the bone marrow and infiltrating various body organs.

Answer 357

* **Lymphadenopathy** (most common sign) * Hepatosplenomegaly * Pallor or petechiae * Fever * Fatigue * Dizziness * Weakness * Epistaxis Children presenting to a GP with bruising, enlarged lymph nodes, and systemic illness should be referred for specialist assessment.

Answer 358

* **Non-Hodgkin lymphoma** Characterised by lymphadenopathy, fever, weight loss, and sweating. * **Infectious mononucleosis** Marked by fever, sore throat, fatigue, and lymphadenopathy. * **Aplastic anaemia** Presents with fatigue, pallor, and bleeding or bruising. * **Myelodysplastic syndromes** Characterised by cytopenias leading to symptoms such as fatigue, pallor, and bleeding or bruising.

Answer 359

* **Full blood count** (1st Line) * **Bone Marrow Biopsy** (Diagnostic) * A blood film is used to look for abnormal cells and inclusions. * Lactate dehydrogenase (LDH) is a very non-specific marker of tissue damage. It is often raised in leukaemia but also in other cancers and many non-cancerous conditions. * CT and PET scans may be used to help stage the condition. * Lymph node biopsy can be used to assess abnormal lymph nodes. * Genetic tests (looking at chromosomes and DNA changes) and immunophenotyping (looking for specific proteins on the surface of the cells) may be performed to help guide treatment and prognosis.

Answer 360

**Down's Syndrome** It can also be associated with the Philadelphia chromosome (but this is more associated with chronic myeloid leukaemia)

Answer 361

* Chemotherapy: To kill cancer cells or prevent their growth. * Radiation therapy: Used in certain cases to kill cancer cells or prevent their spread. * Targeted therapy: Aimed at specific genes or proteins that contribute to the growth and survival of the cancer cells. * Stem cell transplant: Can be utilised to replace the diseased bone marrow with healthy stem cells, typically after high-dose chemotherapy or radiation therapy.

Answer 362

Paediatric brain tumours are abnormal growths of cells in the brain that occur in children. They can be benign (non-cancerous) or malignant (cancerous). They can originate from various structures within the brain, such as: * Astrocytes (astrocytomas) * Meninges (meningiomas) * Cells of the ventricular system (ependymomas) * Pituitary gland (craniopharyngiomas).

Answer 363

Brain tumours are the leading cause of cancer-related deaths in children and are the most common solid-organ malignancy in the paediatric population.

Answer 364

Neurofibromatosis or Li-Fraumeni syndrome

Answer 365

* Persistent headaches that are worse in the morning * Signs of raised intracranial pressure such as nausea, vomiting, and altered consciousness * Seizures in an older child (with no fever and no previous history of seizures) * Depending on the location of the tumour, patients can present with focal neurological deficits

Answer 366

* Migraine * Intracranial hypertension * Epilepsy * Meningitis

Answer 367

* **MRI or CT imaging** of the brain to visualise any space-occupying lesions and characterise their location, size, and potential type. * **Lumbar puncture** may be necessary in some cases for obtaining cerebrospinal fluid for examination. * **Biopsy**: may be required to definitively diagnose the tumour type and grade

Answer 368

Management is complex and is dependent on a multitude of factors including the tumour site, size, type, and stage. * Specialist input and multidisciplinary team (MDT) management is crucial for devising a holistic care plan. * **Chemotherapy** may be used to shrink tumours before surgery or to kill remaining cancer cells after surgery. * **Radiotherapy** may be used as a primary treatment, adjuvant to surgery, or for tumours that are not amenable to surgery. * **Surgical intervention** can be used for complete or partial removal of the tumour.

Answer 369

Wilms' tumour, (also known as a **nephroblastoma**), is a malignant embryonic tumour originating from the developing kidney. It is the most common abdominal tumour in paediatric patients.

Answer 370

It predominantly affects children under 5 years of age, with a peak incidence between 3-4 years.

Answer 371

* WAGR syndrome (Wilms' tumour, Aniridia, Genitourinary anomalies, and mental Retardation) * Beckwith-Wiedemann syndrome * Denys-Drash syndrome

Answer 372

* A palpable abdominal mass that **does not cross the midline**, although it may be bilateral in up to 5% of cases. * Abdominal pain * Abdominal distension * Haematuria * Hypertension * Lethargy * Fever * Weight Loss Although it is often asymptomatic unless the tumour grows sufficiently large to cause pain or disrupt other abdominal structures.

Answer 373

* **Neuroblastoma** Presents with an abdominal mass that often crosses the midline. Other symptoms may include fever, weight loss, bone pain, and under certain conditions, opsoclonus-myoclonus syndrome. * **Mesoblastic Nephroma** Mainly presents with a palpable abdominal mass and hypertension. * **Renal Cell Carcinoma** Presents in adults and is rarely found in children.

Answer 374

* **Ultrasound** of the abdomen to visualise the kidneys (1st line) * **CT or MRI scan** can be used to stage the tumour * **Renal Biopsy** to identify the histology of the tumour (diagnostic)

Answer 375

Treatment = **surgical excision of the tumour** along with the affected kidney (nephrectomy). Adjuvant treatment (either chemotherapy or radiotherapy) can be offered after initial management with surgery.

Answer 376

A neuroblastoma is a malignant tumour arising from the embryological neural crest element of the peripheral sympathetic nervous system (**neuroblasts**). It most commonly arises in the **adrenal glands**.

Answer 377

* It is the most common solid tumor in children (outside of the brain) * Peak incidence is below 5 years old

Answer 378

* Abdominal mass that often crosses the midline * Pain * Weight Loss * Fatigue * periorbital ecchymosis (panda eyes) * Constipation

Answer 379

* Diagnosis can usually be confirmed by **urine catecholamines and imaging**. * However a **biopsy** is required for a definitive diagnosis

Answer 380

Treatment = **surgical excision of the tumour** Alongside adjuvant chemotherapy or radiotherapy if required.

Answer 381

Retinoblastoma is a malignant neoplasm originating from the retina. It's the most prevalent intraocular tumour in the paediatric population.

Answer 382

Its considered a rare disease, with only 50-60 children being diagnosed annually.

Answer 383

Retinoblastomas can be hereditary or non-hereditary. * The hereditary type is caused by germline mutations in the RB1 tumour supressor gene. * While the non-hereditary type is caused by somatic mutations in the same gene. Mutations to RB1 are also more associated with increased risk to other cancers like osteosarcomas and soft tissue sarcomas.

Answer 384

* **Leukocoria**, or white pupil (primary clinical sign) * Deteriorating vision * Strabismus * Failure to thrive * eye enlargement (in developing nations)

Answer 385

* **Congenital Cataracts** Present with clouding of the eye's lens at birth. * **Congenital Toxoplasmosis** A TORCH infection that may lead to ocular findings. * **Congenital Rubella Syndrome** Can cause retinopathy with a characteristic "salt-and-pepper" appearance of the retina. * **Persistent hyperplastic primary vitreous** Manifests as leukocoria and microphthalmia * **Retinopathy of prematurity** Presents with abnormal retinal vascular development

Answer 386

* Detailed ophthalmic examination, including indirect ophthalmoscopy under anaesthesia. * Systemic evaluation to rule out metastasis and genetic testing for the presence of RB1 mutations may also be carried out. * Imaging studies (e.g. ultrasound, CT or MRI)

Answer 387

* Immediate intervention is crucial to maximize the child's survival chances. * Management may encompass **radiotherapy** or **enucleation**, often in conjunction with **chemotherapy**.

Answer 388

Osteosarcoma is a type of bone cancer that is derived from primitive transformed cells of mesenchymal origin that exhibit osteoblastic differentiation and produce malignant osteoid.

Answer 389

It is the most common primary malignant bone tumor in children and adolescents. Its peak incidence is between the ages of 10-20 years (corresponding with the pubertal growth spurt).

Answer 390

* **Periods of rapid bone growth** * History of radiation exposure * History of certain genetic conditions e.g. Li-Fraumeni syndrome retinoblastoma Rothmund-Thomson syndrome.

Answer 391

**The Femur** Other common sites include the tibia and humerus

Answer 392

* **Persistent bone pain thats worse at night time** (and may disturb or wake them from sleep). This pain is often mistaken for growing pains or sports injuries. * Swelling, typically in the region of the long bone metaphyses * Decreased range of motion * Possible pathologic fracture in affected area

Answer 393

* **Ewing sarcoma** Presents with pain and a soft tissue mass. Fever, anemia, and elevated ESR and LDH are more common than in osteosarcoma. * **Chondrosarcoma** Predominantly occurs in adults. * **Lymphoma of bone** Mmore likely to have systemic symptoms, such as weight loss, fever, and night sweats compared to osteosarcoma. * **Non-ossifying fibroma** Characterized by an asymptomatic, radiolucent lesion often found incidentally on imaging.

Answer 394

* 1st Line - **XRay** * Upon identifying potential signs on X-ray, an urgent **full body CT** is performed to assess for metastases. * Definitive diagnosis is confirmed using **bone biopsy** * Blood tests may show a raised alkaline phosphatase (ALP).

Answer 395

New bony growth with a periosteal reaction causing a sunburnt appearance.

Answer 396

* **Surgical resection** of the lesion, often with a limb amputation * **Radiotherapy**, particularly for patients with inoperable tumors or to enhance local control in case of inadequate surgical margins * **Chemotherapy**, including drugs like methotrexate, cisplatin, and doxorubicin * Follow-up imaging to monitor for recurrence or metastasis

Answer 397

A hepatoblastoma is a rare, malignant tumour of the liver.

Answer 398

* It is the most common form of liver cancer in children. * Peak incidence is before the age of 3 years

Answer 399

* Abdominal mass * Abdominal pain * Pallor * Fatigue * Weight loss * Vomiting

Answer 400

* Increased **alpha-fetoprotein (AFP)** levels in the blood (first line). As hepatoblastoma tumours secrete this. * Imaging such as CT and MRI scans * Diagnostic - **Liver biopsy**

Answer 401

* Surgical resection of the tumour alongside adjuvant chemotherapy if nescesary. * Sometimes liver transplantation is required.

Answer 402

Turner syndrome (45, XO) is a condition that only affects females and occurs when one of the X chromosomes is missing or partially missing.

Answer 403

* **Short stature** * **Webbed neck** * **Widely space nipples** * Lymphoedema of hands and feet in neonate, may persist * Spoon-shaped nails * Wide carrying angle * Congenital heart defects - bicuspid aortic valve (most common), coarctation of the aorta. * Delayed puberty * Ovarian dysgenesis causing infertility - USS findings of ovary streaks. * Hypothyroidism * Recurrent otitis media * Normal intellect * Cubitus Valgus - an abnormal feature of the elbow (When the arm is extended downwards with the palms facing forward, the angle of the forearm at the elbow is exaggerated, angled away from the body).

Answer 404

* Recurrent otitis media * Recurrent urinary tract infections * Coarctation of the aorta * Hypothyroidism * Hypertension * Obesity * Diabetes * Osteoporosis * Various specific learning disabilities

Answer 405

**Pre-natally**: * amniocentesis or chorionic villus sampling (CVS) **After birth**: * A definitive diagnosis requires confirmation with karyotyping (chromosomal analysis) after birth.

Answer 406

There is no way to treat the underlying genetic cause of Turner syndrome. Treatment aims to help with the symptoms of the condition: * **Growth hormone therapy**- used to prevent short stature * **Oestrogen and progesterone replacement** - to help establish female secondary sex characteristics, regulate the menstrual cycle and prevent osteoporosis * **Fertility treatment** can increase the chances of becoming pregnant * Management of the conditions associated with Turner's (e.g. hypertension and hypothyroidism)

Answer 407

Increased risk of cardiovascular disease. Specifically increased risks of aortic stenosis (bicuspid valve) and aortic dissection (due to aortic coarctation). Although **life expectancy is only slightly reduced** compared to normal

Answer 408

Klinefelter syndrome occurs when a male has an additional X chromosome, making them 47 XXY. Rarely people with Klinefelter syndrome can have even more X chromosomes, such as 48 XXXY or 49 XXXXY. This is associated with more severe features.

Answer 409

**Infants**: * Weak muscles * Slow motor development — taking longer than average to sit up, crawl and walk * Delay in speaking * Problems at birth (like undescended testicles) **Teenagers** * Longer legs, shorter torso and broader hips compared with other boys * Taller height * Absent, delayed or incomplete puberty * Less muscle and less facial and body hair * Small, firm testicles * Small penis * Enlarged breast tissue (gynecomastia) * Weak bones * Low energy levels * Intelectual difficulties

Answer 410

* Type 2 diabetes * Osteoporosis * CVD (e.g. DVTs and PEs) * Autoimmune conditions, e.g. SLE * Hypothyroidism * Depression and anxiety

Answer 411

Increased maternal age

Answer 412

* Hormonal blood tests (1st line) * A definitive diagnosis requires confirmation with **karyotyping**.

Answer 413

* **Testosterone Replacement Therapy** is the mainstay of treatment * Breast reduction surgery to remove exess breast tissue * Speech and language therapy * Physiotherapy to help build muscles and strength * Fertility treatment

Answer 414

Down’s Syndrome is caused by a person having three copies of chromosome 21. It is also called trisomy 21. It gives characteristic dysmorphic features and is associated with a number of associated conditions.

Answer 415

Increased maternal age

Answer 416

* **Gamete non-disjunction** Accounts for ~95% of cases; the incidence increases with maternal age. * **Robertsonian translocation** Sometimes referred to as familial Down syndrome or translocation Down syndrome; accounts for ~4% of cases. * **Mosaic Down syndrome** The least common form, accounting for ~1% of cases; this often leads to variable expression of the Down syndrome phenotype.

Answer 417

* Hypotonia (reduced muscle tone) * Brachycephaly (small head with a flat back) * Short neck * Short stature * Flattened face and nose * Prominent epicanthic folds (folds of skin covering the medial portion of the eye and eyelid) * Upward sloping palpebral fissures (gaps between the lower and upper eyelid) * Single palmar crease

Answer 418

* Learning disability * Recurrent otitis media * Deafness. Eustachian tube abnormalities lead to glue ear and conductive hearing loss. * Visual problems such myopia, strabismus and cataracts * Hypothyroidism occurs in 10 – 20% * Cardiac defects affect 1 in 3, particularly ASD, VSD, patent ductus arteriosus and tetralogy of Fallot * Atlantoaxial instability * Leukaemia is more common in children with Down’s * Dementia is more common in adults with Down’s

Answer 419

**Combined Test** Is the first line and most accurate. Its done between 11 and 14 weeks gestation. It involves: * Ultrasound measuring nuchal translucency (thickness of the back of the neck of the fetus) > 6mm suggests Down's. * Beta‑human chorionic gonadotrophin (beta-HCG). A higher result indicates a greater risk. * Pregnancy‑associated plasma protein‑A (PAPPA). A lower result indicates a greater risk. **Triple Test** Is done between 14 and 20 weeks gestation. It only involves maternal blood test results: * Beta-HCG. A higher result indicates greater risk. * Alpha-fetoprotein (AFP). A lower result indicates a greater risk. * Serum oestriol (female sex hormone). A lower result indicates a greater risk. **Quadruple Test** Is also done between 14 and 20 weeks gestation. Its identical to the triple test but also includes maternal blood for inhibin-A. A higher inhibin-A indicates a greater risk.

Answer 420

The screening tests provide a risk score for the fetus having Down’s. When the risk of Down’s is greater than 1 in 150, then wome are offered: * **Chorionic villus sampling (CVS)** - involves an ultrasound guided biopsy of the placental tissue. This is used when testing is done earlier in pregnancy (before 15 weeks). * **Amniocentesis** - involves ultrasound guided aspiration of some amniotic fluid using a needle and syringe. This is later in pregnancy once there is enough amniotic fluid to make it safer to take a sample. These both take a sample of foetal cells which are then sent off for **karypotyping**, which confirms the diagnosis.

Answer 421

Management involves supportive care from the multidisciplinary team to help them meet their needs: * Occupational therapy * Speech and language therapy * Physiotherapy * Dietician * Paediatrician * GP * Health visitors * Cardiologist for congenital heart disease * ENT specialist for ear problems * Audiologist for hearing aids * Optician for glasses * Social services for social care and benefits * Additional support with educational needs * Charities such as the Down’s Syndrome Association

Answer 422

* Regular thyroid checks (2 yearly) * Echocardiogram to diagnose cardiac defects * Regular audiometry for hearing impairment * Regular eye checks

Answer 423

Also known as Trisomy 18, is a genetic condition caused by a person having 3 copies of chromosome 18. Most of these babies will die before or shortly after birth.

Answer 424

It is the second most common Trisomy disorder (after Down's Syndrome). While the least common is Patau's Syndrome (trisomy 13).

Answer 425

* Low-set ears * Micrognathia * Microcephaly * Overlapping 4th and 5th fingers * Rocked bottomed feet * Congenital heart disease

Answer 426

**Full Edwards' syndrome** Babies have an extra chromosome 18 present in all cells. This is the most common form. Its also the most severe, and most babies with this form will die before birth. **Mosaic Edwards' syndrome** Babies only have an extra chromosome 18 in just some cells. This occurs in around 1 in 20 cases. This leads to a milder form of the condition and most babies will live past their 1st b'day (or even into adulthood). **Partial Edwards' syndrome** babies have only a section of the extra chromosome 18 in their cells, rather than a whole extra chromosome 18. Presentation will depend on what part of chromosome 18 is present in their cells.

Answer 427

Management of trisomy disorders is largely supportive and symptomatic: * **Supportive care**: Addressing feeding difficulties, cardiac complications, respiratory problems, and other associated issues. * **Genetic counselling**: Providing information and support to families. * **Multidisciplinary approach**: Involving paediatricians, cardiologists, surgeons, speech therapists, occupational therapists, and physiotherapists.

Answer 428

* **Other chromosomal disorders** Distinct signs and symptoms can overlap with trisomy disorders. * **Congenital infections** Some features such as microcephaly can be present. * **Metabolic disorders** Can also present with various developmental anomalies.

Answer 429

Also known as Trisomy 13, is a genetic condition caused by a person having 3 copies of chromosome 13. It severely disrupts normal development and, in many cases, results in miscarriage, stillbirth or the baby dying shortly after birth. (As with Trisomy 18; there are Full, Mosaic and Partial subtypes)

Answer 430

* Low birth weight * Most (8/10) are born with severe congenital heart defects. * Holoprosencephaly (failure of the cerebral hemispheres to divide) * Microcephaly (small head) * Cleft lip and palate * Polydactyly (extra fingers or toes) * Microphthalmia (abnormally small eye or eyes) * Anophthalmia (absence of 1 or both eyes) * Ear malformations and deafness

Answer 431

Fragile X Syndrome is a genetic disorder that leads to a range of developmental problems including learning disabilities and cognitive impairment. Its causes by a mutation in the FMR1 (fragile X mental retardation 1) gene on the X chromosome. Which usually codes for ragile X mental retardation protein, which plays a role in cognitive development in the brain.

Answer 432

Fragile X Syndrome is the most common inherited form of learning disabilities. It affects both males and females, although males are always affected (and with more severe symptoms); while the extent to which females are effected can vary (as they have a spare normal copy of the FMR1 gene on their other X chromosome).

Answer 433

X-Linked Although it is unknown whether it is dominant or recessive

Answer 434

* Long face * Large, protruding ears * Intellectual impairment * Post-pubertal macroorchidism (large testes) * Social anxiety * Autistic spectrum features * Hypermobile joints (particularly in the hands) * Attention deficit hyperactivity disorder (ADHD) * Seizures

Answer 435

* Autism Spectrum Disorder (ASD) * Down Syndrome * Turner Syndrome

Answer 436

Its caused by a mutation of the FMR1 gene located on the X chromosome. This causes CGG repeat trinucleotide expansion; so that patients can have over 200 repeats of CGG (whereas normally there's only around 5-44). This large number of repeats disrupts the production of Fragile X Mental Retardation Protein (FMRP), which is crucial for normal neural development.

Answer 437

Genetic testing that detects the number of CGG repeats in the FMR1 gene.

Answer 438

Management requires a multidisciplinary approach. This might include: * Behavioural therapy to help manage social anxiety and autistic spectrum features. * Speech and language therapy for communication difficulties. * Educational support to address learning disabilities. * Medical management as required for any physical complications, including macroorchidism. * Manage autism and ADHD and treat seizures if they occur. Life expectancy is usually normal depending on associated disabilities and complications.

Answer 439

Cystic fibrosis is a progressive, autosomal recessive genetic condition that affects the mucus glands. This causes persistent lung infections and limits the ability to breathe over time.

Answer 440

It's caused by a genetic mutation of the cystic fibrosis transmembrane conductance regulatory (CFTR) gene on chromosome 7. The CFTR gene codes for a type of chloride channel. So a mutation in this gene results in defects of chloride transport across cell membranes, causing mucous secretions in different systems to be very thick. There are many variants of this mutation, the most common is the delta-F508 mutation. This results in abnormal glycosylation and subsequent degradation of the CFTR protein before it reaches the cell membrane.

Answer 441

Approximately **1 in 25 people** in the UK have a CFTR protein mutation. The probability of having a child with Cystic Fibrosis is 1/25 x 1/25 x 1/4 (autosomal recessive) = **1/2500** **If both parents carry the faulty gene**: * There's a 1/4 chance the child will have Cystic Fibrosis * There's a 1/2 chance the child will be a carrier but will not have Cystic Fibrosis * There's a 1/4 chance the child will neither have Cystic Fibrosis nor be a carrier

Answer 442

As the child doesn't have the condition, the answer must be two in three

Answer 443

* **Thick pancreatic and biliary secretions** that cause blockage of the ducts, resulting in a lack of digestive enzymes such as pancreatic lipase in the digestive tract * **Low volume thick airway secretions** that reduce airway clearance, resulting in bacterial colonisation and susceptibility to airway infections * **Congenital bilateral absence of the vas deferens** in males. Patients generally have healthy sperm, but the sperm have no way of getting from the testes to the ejaculate, resulting in male infertility

Answer 444

**In Neonates** * Meconium ileus - Where the baby doesn't pass the meconium (first stool; that's usually black and sticky) within the first 24 hrs. So that it gets stuck and obstructs the bowel causes abdominal distension and vomiting. It's diagnosed and treated with a gastrograffin enema. **In Infants - Older Children** * Very salty sweat * Failure to thrive * Chronic cough * Thick sputum production * **Recurrent respiratory tract infections** * Loose, greasy stools (steatorrhoea) due to a lack of fat digesting lipase enzymes * Abdominal pain and bloating * **Pancreatitis** * Nasal polyps * Finger clubbing * Crackles and wheezes on auscultation * Abdominal distention * Delayed onset of puberty

Answer 445

* Bronchiectasis * Asthma * Chronic Obstructive Pulmonary Disease (COPD) * Gastroesophageal Reflux Disease (GORD) * Coeliac Disease

Answer 446

**Neonatal Screening** Newborn blood spot testing is performed on all children shortly after birth and picks up most cases. **Definitive Diagnosis** Sweat test - which measures the concentration of chloride that's excreted in sweat. **Others** Genetic testing for CFTR gene can be performed during pregnancy by amniocentesis or chorionic villous sampling, or as a blood test after birth

Answer 447

Raised blood immunoreactive trypsinogen

Answer 448

Chloride Concentration - **more than 60mmol/l**

Answer 449

* **Chest physiotherapy** several times a day is essential to clear mucus and reduce the risk of infection and colonisation * Exercise improves respiratory function and reserve, and helps clear sputum * **High calorie diet** is required for malabsorption, increased respiratory effort, coughing, infections and physiotherapy * **CREON tablets** to digest fats in patients with pancreatic insufficiency (these replace the missing lipase enzymes) * **Prophylactic flucloxacillin** tablets to reduce the risk of bacterial infections (particularly staph aureus) * Treat chest infections when they occur * **Bronchodilators** such as salbutamol inhalers can help treat bronchoconstriction * **Nebulised DNase** (dornase alfa) is an enzyme that can break down DNA material in respiratory secretions, making secretions less viscous and easier to clear * **Nebulised hypertonic saline** * **Vaccinations** including pneumococcal, influenza and varicella * **Lung transplantation** is an option in end stage respiratory failure * **Liver transplant** in liver failure * **Fertility treatment** involving testicular sperm extraction for infertile males * Genetic counselling

Answer 450

* Colonisation of their lungs by bacteria (by checking their sputum) -> Particularly Staph Aureus and Pseudomonas * Diabetes * Osteoporosis * Vitamin D deficiency * Liver failure

Answer 451

Median life expectancy is 47 years * 90% of patients with CF develop pancreatic insufficiency * 50% of adults with CF develop cystic fibrosis-related diabetes and require treatment with insulin * 30% of adults with CF develop liver disease * Most males are infertile due to absent vas deferens

Answer 452

Muscular dystrophy refers to a group of inherited genetic disorders characterized by the progressive degeneration and weakening of the body's muscles. The disease is categorized into various types, the most common being **Duchenne muscular dystrophy (DMD)** and **Becker muscular dystrophy**, distinguished primarily by the severity and onset age.

Answer 453

X-Linked Recessive Thus males are affected and females can be carriers

Answer 454

Both Duchenne and Becker's muscular dystrophy result from **mutations in the dystrophin gene**, leading to reduced expression of dystrophin (a crucial protein involved in muscle contraction and stability). * In Duchenne's, the protein is virtually absent * In Becker's, the protein is expressed at lower levels or the protein is dysfunctional.

Answer 455

* Presents in early childhood with muscle wasting and weakness * Children usually become wheelchair-bound before puberty and often succumb to respiratory failure by their early twenties * May present with hypertrophic calves, as degenerated muscle is replaced by fat * Notable signs include a positive Gower's manoeuvre and difficulty in lifting the child due to proximal muscle weakness

Answer 456

* Presents later in childhood with muscle wasting and weakness * Patients commonly become wheelchair-bound in their teens and can survive into their thirties So is **less severe than Duchene's**

Answer 457

* **Limb-Girdle Muscular Dystrophy** Characterized by weakness and wasting of the proximal muscles, specifically around the hips and shoulders. This condition can be distinguished from Duchenne's and Becker's by its autosomal inheritance pattern and later onset. * **Spinal Muscular Atrophy** Presents with muscle weakness and atrophy, but is characterized by anterior horn cell degeneration rather than a deficiency in dystrophin. * **Myopathies** A broad range of disorders causing muscle weakness, but they are typically non-progressive and not associated with muscle degeneration.

Answer 458

* **Genetic Testing** is the gold standard for diagnosing both Duchene's and Becker's * **Elevated Creatine Kinase** can be used as a first line screening tool * Muscle biopsy used to be used to confirm the diagnosis. But this is rarely done anymore due to genetic testing.

Answer 459

Muscular dystrophies require comprehensive and multidisciplinary management to maximize quality of life and disease progression. Including: * Medical management with **glucocorticoids** to slow muscle degeneration * **Physical therapy** to maintain mobility * **Supportive care** to address respiratory and cardiac complications. * **Genetic counselling** should be offered to families with affected individuals, as these conditions are inherited.

Answer 460

Angelman syndrome is a genetic condition caused by loss of function of the UBE3A gene on chromosome 15, specifically the copy of the gene that is inherited from the mother. This means that only the gene inherited from the father is expressed.

Answer 461

Prader-Willi Syndrome is a genetic condition caused by the loss of functional genes on the proximal arm of the chromosome 15 inherited from the father. This means that only the gene inherited from the mother is expressed.

Answer 462

These 2 conditions arise due to alterations involving the **15q11-q13 region (UBE3A gene) of chromosome 15**. The condition can be caused by several mechanisms, including: * Deletion of the paternal copy of an allele (Prader-Willi) * Deletion of the maternal copy of an allele (Angelman's) * Uniparental disomy, where the individual inherits two copies from one parent (the mother in Prader-Willi) (the father in Angelman's and none from the other (the father in Prader-Willi) (the mother in Angelman's).

Answer 463

* **Fascination with water** * **Happy demeanour** * **Wide mouth with widely spaced teeth** * Delayed development and learning disability * Severe delay or absence of speech development * Coordination and balance problems (ataxia) * Inappropriate laughter * Hand flapping * Abnormal sleep patterns * Epilepsy * Attention-deficit hyperactivity disorder * Dysmorphic features * Microcephaly * Fair skin, light hair and blue eyes

Answer 464

* **Constant insatiable hunger that leads to obesity** * Poor muscle tone as an infant (hypotonia) * Mild-moderate learning disability * Hypogonadism * Fairer, soft skin that is prone to bruising * Mental health problems, particularly anxiety * Dysmorphic features * Narrow forehead * Almond shaped eyes * Strabismus * Thin upper lip * Downturned mouth

Answer 465

**Genetic Testing** which can detect the typical chromosomal abnormalities associated with the conditions.

Answer 466

Like many other genetic syndromes, there is no cure and management focuses on a multi-disciplinary team approach to managing individual problems and supporting the patient and carers holistically. * Parental education * Social services and support * Educational support * Physiotherapy * Occupational therapy * Psychology * CAMHS * Anti-epileptic medication where required

Answer 467

**Carefully limiting access to food** under guidance of a dietician is required to control weight; they usually require a lower than normal calorie intake, particularly as they tend to have lower activity levels due to poor muscle strength and tone. **Supplementary Growth Hormone** aimed at improving muscle development and body composition. Management involves supportive care from an MDT involving: * Dieticians play a very important role * Education support * Social workers * Psychologists or psychiatrists * Physiotherapists * Occupational therapists

Answer 468

* **Bardet-Biedl Syndrome** Characterized by obesity, learning disabilities, and kidney abnormalities. With additional signs such as rod-cone dystrophy, polydactyly, and hypogonadism. * **Cohen Syndrome** Present with obesity, intellectual disability, and developmental delay. Other distinguishing symptoms include microcephaly, eye abnormalities (particularly retinal dystrophy), joint hypermobility, and neutropenia.

Answer 469

Noonan's syndrome is a genetic condition phenotypically similar to Turner's syndrome but with a normal genotype (46 XY/46 XX). It is associated with a gene deletion on chromosome 12 (PTPN11) in 50% of cases. And in the majority of cases, is inherited in an autosomal dominant way.

Answer 470

* Short stature * Broad forehead * Downward sloping eyes with ptosis * Hypertelorism (wide space between the eyes) * Prominent nasolabial folds * Low set ears * Webbed neck * Widely spaced nipples

Answer 471

* **Congenital heart disease** (most important), particularly pulmonary valve stenosis, hypertrophic cardiomyopathy and ASD * Cryptorchidism (undescended testes) can lead to infertility. Fertility is normal in women. * Learning disability * Bleeding disorders * Lymphoedema * Increased risk of leukaemia and neuroblastoma

Answer 472

There is no treatment for the underlying genetic defect. Management is supportive with involvement of the multidisciplinary team. The main complication is congenital heart disease and often patients will require corrective heart surgery.

Answer 473

William syndrome is caused by a deletion of genetic material on one copy of chromosome 7, resulting in the person only having a single copy of the genes on this deleted region (on the other chromosome 7). It usually the result of a random deletion around conception, rather than being inherited from an affected parent.

Answer 474

* **Very sociable trusting personality** * **Starburst eyes (a star-like pattern on the iris)** * Broad forehead * Flattened nasal bridge * Long philtrum * Wide mouth with widely spaced teeth * Small chin * Mild learning disability

Answer 475

* **Supravalvular aortic stenosis** (narrowing just above the aortic valve) * **Hypercalcaemia** * Attention-deficit hyperactivity disorder * Hypertension

Answer 476

Like many other genetic syndromes, there is no cure and management focuses on a multi-disciplinary team approach to managing individual problems and supporting the patient and family. * **Echocardiograms and blood pressure monitoring** are important to assess for aortic stenosis and hypertension. * **A low calcium diet** may be required to control hypercalcaemia, and they should **avoid calcium and vitamin D supplements**.

Answer 477

Osteogenesis imperfecta is a genetic condition that results in brittle bones that are prone to fractures. It can also be known as brittle bone syndrome. It is caused by a range of genetic mutations that affect the formation of collagen.

Answer 478

OI is primarily caused by **mutations in the COL1A1 and COL1A2 genes**, which code for the alpha chains of type I collagen. These mutations can lead to either a decrease in the amount of collagen produced or the formation of structurally abnormal collagen molecules, thereby increasing bone fragility.

Answer 479

* **Frequent fractures often from minimal trauma** * **Blue / grey sclera** * Short stature or growth deficiency * Triangular face * Defective tooth formation (dentinogenesis imperfecta) * Conductive or sensorineural hearing loss * Scoliosis due to weak spinal bones * Ligament laxity leading to joint hypermobility * Easy bruising * Joint and bone pain

Answer 480

* **Ehlers-Danlos Syndrome** Joint hypermobility, skin hyperextensibility, and tissue fragility * **Rickets** Bowing of legs, delayed growth, and bone pain or tenderness * **Non-accidental Injury** Unexplained fractures, suspicious injury patterns, inconsistent history

Answer 481

* It is a clinical diagnosis * Genetic testing for mutations in the COL1A1 and COL1A2 genes would be diagnostic, but it isn't routinely done. * X-Rays are useful to identify fractures and bone deformities. * Audiologic evaluations: To identify any hearing loss

Answer 482

There isn't a cure for the genetic condition. **Medical management**: * Bisphosphates to increase bone density * Vitamin D supplementation to prevent deficiency **Other Management** * Orthopedic surgery interventions: For the treatment of fractures and correction of bone deformities * Physiotherpy and Occupational therapy to improve mobility and muscle strength * Dental care: to reduce the risk of dentinogenesis imperfecta * Hearing aids: In cases of sensorineural hearing loss * Education and Counselling

Answer 483

Rickets is a paediatric skeletal disorder caused by a deficiency or impaired metabolism of vitamin D, calcium, or phosphate. It results in an inability to adequately mineralise the bone matrix of growing bone, causing soft and deformed bones.

Answer 484

Its less prevalent in developed countries due to improved nutritional awareness and public health measures, it remains common in some regions of Asia and Africa. * In Asia - lack of sunlight and vegetarian diets low in meat. * In Africa - darker skin pigmentation, which reduces vitamin D synthesis upon sunlight exposure.

Answer 485

* Darker skin * Low exposure to sunlight * Spend alot of time indoors * Live in colder climates * Breastfed babies are at a higher risk (as formula milk is fortified with Vit D)

Answer 486

The primary cause of rickets is a **prolonged deficiency in calcium or vitamin D**. Vit D vitamin is crucial for the absorption of calcium and phosphorus from food in the intestines. This can be caused by: * Poor nutrition * Insufficient sun exposure, which aids in vitamin D synthesis * Malabsorption syndromes in which the intestines do not adequately absorb vitamins There rare form of rickets caused by genetic defects that result in low phosphate in the blood. This is called hereditary hypophosphataemic rickets. The most common form is x-linked dominant.

Answer 487

Inadequate vitamin D leads to a lack of calcium and phosphate in the blood. Since calcium and phosphate are required for the construction of bone, low levels result in defective bone mineralisation. Low calcium levels result in secondary hyperparathyroidism as the parathyroid gland tries to raise the calcium level by secreting parathyroid hormone. Parathyroid hormone stimulates increased reabsorption of calcium from the bones. This causes further problems with bone mineralisation.

Answer 488

**General Symptoms**: * Lethargy * Bone pain * Swollen wrists * Bone deformity * Poor growth * Dental problems * Muscle weakness * Pathological or abnormal fractures **Bone Deformities** that can occur: * **Bowing of the legs** - where the legs curve outwards * **Knock knees** - where the legs curve inwards * Rachitic rosary - where the ends of the ribs expand at the costochondral junctions, causing lumps along the chest * Craniotabes - which is a soft skull, with delayed closure of the sutures and frontal bossing * Delayed teeth with under-development of the enamel

Answer 489

* **Osteomalacia** Presenting with bone pain, muscle weakness, and increased fracture risk, but typically seen in adults. * **Hypophosphatasia** Characterised by bone pain, dental issues, and muscle weakness, but often associated with low levels of alkaline phosphatase. * **Osteogenesis imperfecta** Exhibits bone fragility and fractures, but also characterised by blue sclera and hearing loss.

Answer 490

* **Serum 25-hydroxyvitamin D** (is the lab test for Vit D) - < 25nmol/L diagnoses a deficiency which can lead to rickets * **XRay** is required to diagnose rickets Other tests may include: * Serum calcium may be low * Serum phosphate may be low * Serum alkaline phosphatase may be high * Parathyroid hormone may be high

Answer 491

Prevention is the best management, and NICE reccomends all breastfeeding women and children should take a Vit D supplement. * Supplementation: Vitamin D, calcium, and phosphorus supplements are commonly prescribed. * Vit D deficiency is treated with **Ergocalciferol** * Diet and Lifestyle Modifications: Ensuring adequate sun exposure and a diet rich in vitamin D, calcium, and phosphorus. * Orthopaedic intervention: In severe cases with significant bone deformities, orthopaedic surgery may be required.

Answer 492

400 IU (10 micrograms) per day for children and young people

Answer 493

6,000 IU per day for 8 – 12 weeks.

Answer 494

Transient synovitis is a self-limiting condition characterised by the temporary inflammation of the synovial lining of the hip joint. This condition often results in a limp in affected children.

Answer 495

* Mainly affects children between 3-11 years * Twice as common in Males

Answer 496

Transient synovitis typically occurs following a viral infection, particularly upper respiratory tract infections. These infections usually occur 1-2 weeks prior to the onset of the distinctive pain and limp associated with transient synovitis.

Answer 497

* Pain in either the hip or knee (reffered hip pain). Resulting in an acute onset limp. * Accompanied by a low grade fever

Answer 498

* **Septic Arthritis** High fever, severe joint pain, decreased range of motion, warmth and redness over the joint, and leukocytosis on blood work. * **Osteomyelitis** Fever, localized bone pain, swelling, redness, and warmth over the involved bone, and elevated inflammatory markers.

Answer 499

Are mainly done to exclude septic arthritis: * **Blood tests**: Raised white blood cell counts and inflammatory markers may suggest septic arthritis (and not transient synovitis) * **Imaging**: An ultrasound of the joint may show effusion. X-rays may be normal in either condition. * **Joint Aspirate**: If there is still uncertainty after other investigations, or if septic arthritis is strongly suspected, a joint aspirate under ultrasound guidance should be taken. Bacteria within the joint space would confirm septic arthritis.

Answer 500

Management primarily involves supportive treatement which can involve: * Rest * Analgaesics * Physiotherapy The condition usually resolves in about 7 days with with minimal risk of long-term damage to the joint.

Answer 501

Osteomyelitis is a serious medical condition characterized by the bacterial or fungal infection of the bone and bone marrow. This infection may be acute or chronic in nature. Acute infections are generally caused by a single organism, while chronic infections are likely to be polymicrobial.

Answer 502

More common in Males Most common in children under 10

Answer 503

* Males under 10 * Open bone fracture * Orthopaedic surgery * Immunocompromised * Sickle cell anaemia * HIV * Tuberculosis * Diabetes * Peripheral Vascular Disease

Answer 504

* Staphylococcus aureus * Coagulase-negative staphylococci

Answer 505

* **Seeding from a hematogenous infection**, (a scenario commonly seen in children) * Spread from adjacent soft tissues or joints * Direct inoculation of infection into bone due to wound contamination following trauma or surgery

Answer 506

Osteomyelitis can present acutely with an unwell child, or more chronically with subtle features **Acute Infection** * High grade Fever * Pain * Swelling * Erythema at the affected site **Chronic Infection** * Persistent pain over an extended period * Continuously draining sinus tract or wound * Soft tissue damage Risk factors like diabetes and peripheral vascular disease increase the likelihood of chronic infection.

Answer 507

* **Septic arthritis** * **Cellulitis** Presents with erythema, swelling, warmth, and tenderness of the affected area, often accompanied by fever and chills * **Ewing's sarcoma** Characterized by bone pain, swelling, and occasionally systemic symptoms such as fever and weight loss * **Gout** Acute episodes of severe joint pain, redness, and swelling, often affecting the big toe

Answer 508

A definitive diagnosis requires a bone biopsy for pathology and culture. Others include: * X-rays: First line investigation; useful in chronic osteomyelitis diagnosis but may be negative early in the disease process * MRI: Optimal for bone and soft tissue visualization and is the imaging modality of choice * CT: Useful for identifying necrotic bone and guiding a needle biopsy * Blood inflammatory markers (CRP, ESR) and white blood cells will be raised

Answer 509

Treatment requires extensive and prolonged antibiotic therapy (minimum of 4-6 weeks, and at least 12 - 6 months for chronic osteomyelitis): * Initial Therapy: Flucloxacillin plus fusidic acid/rifampicin or Vancomycin (if MRSA is involved) * Clindamycin may be used for pencillin allergy * Antibiotic treatment begins intravenously and is switched to oral once the patient is stable, and/or 2 weeks post surgery. In chronic osteomyelitis, treatment is usually deferred until culture and sensitivity results have been obtained. And Surgical debridement forms the cornerstone of treatment for chronic osteomyelitis.

Answer 510

Septic arthritis, is a potentially life-threatening condition involving the direct infection of the synovial joint space. It's classed as an emergency, as the infection can quickly begin to destroy the joint and cause serious systemic illness.

Answer 511

Most common in children under 4 years (but can occur at any age

Answer 512

* Immunosupression * Invasive surgical procedures * Trauma to the joint * Pre-existing joint disease

Answer 513

Most commonly caused by bacteria: * **Staph auereus** (Most common) * Neisseria gonorrhoea (gonococcus) in sexually active teenagers * Group A streptococcus (Streptococcus pyogenes) * Haemophilus influenza * Escherichia coli (E. coli) It can also be caused by fungi and viruses, but this is less common.

Answer 514

Pathogens can reach the joint: * Hematogenously (through the blood) * From a contiguous site of infection * Through direct inoculation, such as during trauma or surgery.

Answer 515

Septic arthritis usually only affects a single joint. This is often a knee or hip. It presents with a rapid onset of: * Hot, red, swollen and painful joint * Refusing to weight bear * Stiffness and reduced range of motion * Systemic symptoms such as fever, lethargy and sepsis

Answer 516

* Osteomyelitis * Transient sinovitis * Reactive Arthritis * Gout * Rheumatoid arthritis

Answer 517

The diagnosis of septic arthritis involves: * **Synovial fluid analysis** Fluid is aspirated from the affected joint for analysis, including gram stain, culture, cell count, and crystal analysis * **Blood tests** Full blood count, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), and blood cultures * **Imaging** X-ray may show joint space widening or effusion, while MRI or ultrasound can provide more detailed images of the joint and surrounding tissues

Answer 518

Septic arthritis requires urgent management, consisting of: * **Surgical drainage and washout**: Either by arthroscopy or open surgery, to remove the infected synovial fluid * **Antimicrobial therapy**: Empiric antibiotics are initiated urgently, then tailored based on the pathogen identified and its antibiotic sensitivity pattern. Its initially given IV, then followed by oral antibiotics. * Early diagnosis and treatment are crucial to prevent joint destruction and other potential complications of septic arthritis.

Answer 519

Perthes disease (full name: Legg-Calvé-Perthes disease) refers to avascular necrosis of the femoral head in children aged 4-12. This condition arises due to disruption in blood flow to the femoral head, which subsequently leads to ischemia and necrosis.

Answer 520

* More common in Males (5:1 ratio) * It occurs in children aged 4 – 12 years, but mostly between 5 – 8 years.

Answer 521

There is a disruption of blood flow to the epiphysis of the femur (femoral head). Resuting in cell death to the bone cells there (avascular necrosis). This disruption to blood flow could be due to clot formation, increased pressure within the bone, or damage to the vessels. However the exact cause of the avascular necrosis is unknown. So it's described as **Idiopathic**. Over time there is **revascularisation or neovascularisation** and healing of the femoral head; and there's remodelling of the bone as it heals. This however can result in a soft and deformed femoral head, leading to early hip osteoarthritis.

Answer 522

Presents with **slow onset** of: * Pain in the hip or groin, that can be refered to the knee * Limp * Restricted hip movements There is **no history of trauma** Pain persisting for greater than 4 weeks raises the suspicion of Perthes.

Answer 523

* **Transient synovitis** Presents with hip pain and a limp, but typically resolves within 2 weeks. * **Septic arthritis** Characterised by acute onset of severe hip pain, fever, and inability to bear weight. * **Slipped capital femoral epiphysis (SCFE)** Presents in older, often overweight children, with knee pain, limping, and decreased hip motion. * **Juvenile idiopathic arthritis (JIA)** Presents with chronic joint pain and swelling, morning stiffness, and possible systemic features.

Answer 524

The main diagnostic test is a **hip X-ray**; which will show: * **Sclerosis and fragmentation of the epiphysis** In some cases, initial X-rays may appear normal, necessitating a repeat X-ray if clinical suspicion persists

Answer 525

Initial management in younger and less severe disease is **conservative**. The aim is to maintain a healthy position and alignment in the joint and reduce the risk of damage or deformity to the femoral head. This is with: * Bed rest * Traction * Crutches * Analgesia Physiotherapy is used to retain the range of movement in the muscles and joints without putting excess stress on the bone. Regular xrays are used to assess healing. Surgery may be required in severe cases, older children, or those not healing.

Answer 526

A discoid meniscus is a thicker than normal and abnormally shaped meniscus in the knee. Its disc shaped and usually affects the lateral meniscus. It is more prone to injury than a normal meniscus, as the abnormal shape of the discoid meniscus makes it more likely to get stuck in the knee or tear.

Answer 527

* **Incomplete**: the lateral meniscus is a bit thicker and wider than a normal meniscus * **Complete**: the tibia is completely covered by the meniscus * **Hypermobile Wrisberg**: the meniscus is not abnormal in shape but there is no posterior attachment to the tibia. This results in a hypermobile meniscus

Answer 528

It is **asymptomatic** in alot of cases, and people may never experience problems. Its primary presentation is: **a visible or audible palpable snap on terminal extension (10-20°) along with pain swelling and locking**. There may also be an **annoying click during movement**

Answer 529

Meniscal tear

Answer 530

**MRI of the knee** It can show the abnormal shape of the discoid meniscus, as well as tears within the meniscus.

Answer 531

An **arthroscopic partial meniscectomy** is the treatment of choice for symptomatic stable, complete, or incomplete discoid meniscus. (**alongside Physiotherapy**) Asymptomatic patients should not recieve surgery, but should be followed up with periodically to check for deterioration.

Answer 532

Also known as slipped capital femoral epiphysis (SCFE). It is where the **head of the femur is displaced (“slips”) along the growth plate**. It arises from the proximal femoral growth plate's weakness allowing displacement of the capital femoral epiphysis.

Answer 533

* More common in Males (80% of cases) * Typically presents aged 8 – 15 years. * Average age of 12 in boys. It presents slightly earlier in females, with an average age of 11 years.

Answer 534

* Male Adolescants * Obesity * Endocrine disorders, like hypothyroidism and hypogonadism * Afro-Caribbean and Hispanic populations

Answer 535

Typical exam presentation is an **adolescent, obese male undergoing a growth spurt**. There may be a history of minor trauma but **suspect SUFE if the pain is disproportionate to the severity of the trauma**. * Hip, groin, thigh or knee pain * Restricted range of hip movement * Painful limp * Restricted movement in the hip (especially restricted internal rotation) * Positive Trandeleburg gait

Answer 536

* Osteoarthritis * Hip fracture * Legg-Calvé-Perthes disease * Hip bursitis * Septic arthritis

Answer 537

**Anterolateral and frog-leg X-rays** These can reveal characteristic features such as a shortened, displaced epiphysis and a widened growth plate. Other tests to aid in diagnosis: * Blood tests (normal inflammatory markers) * Technetium bone scan * CT and MRI scan

Answer 538

The mainstay of management is: **Surgery** to return the femoral head to the correct position and fix it in place (usually with a screw) to prevent it slipping further.

Answer 539

Osgood-Schlatter disease is a self-limited condition characterized by **inflammation and stress-induced injury of the tibial tuberosity at the insertion point of the patellar tendon**. Its usually unilateral, but can be bilateral. It typically affects adolescents and is associated with high levels of physical activity.

Answer 540

The patella tendon inserts into the tibial tuberosity. The tibial tuberosity is at the epiphyseal plate. **Exessive stress** from running, jumping and other movements **at the same time as growth** in the epiphyseal plate result in inflammation on the tibial epiphyseal plate. It cause there to be **multiple small avulsion fractures**, where the patella ligament pulls away tiny pieces of the bone. This leads to growth of the tibial tuberosity, causing a visible lump below the knee. Initially this bump is tender due to the inflammation, but has the bone heals and the inflammation settles it becomes hard and non-tender.

Answer 541

* More common in males * Typically occurs in patients aged 10-15 * Higher prevalence in athletes, particularly those involved in sports such as running, football, basketball, gymnastics, and ballet.

Answer 542

Gradual onset of symptoms: * Visible or palpable hard and tender lump at the tibial tuberosity * Pain in the anterior aspect of the knee * The pain is exacerbated by physical activity, kneeling and on extension of the knee. And improved with rest

Answer 543

* **Patellofemoral pain syndrome** characterized by diffuse anterior knee pain, often exacerbated by prolonged sitting or activities such as stair climbing. * **Sinding-Larsen-Johansson syndrome** presents with pain at the lower pole of the patella, rather than the tibial tuberosity. * **Tibial tubercle fractures** typically present with acute, severe pain and inability to bear weight, often following a traumatic incident. * **Prepatellar bursitis** presents with swelling and tenderness directly over the front of the patella, not the tibial tuberosity.

Answer 544

* Diagnosis is primarily clinical, based on the characteristic signs and symptoms. * However, imaging studies (X-ray, ultrasound, or MRI) can be used to confirm the diagnosis and rule out other conditions.

Answer 545

Initial management focusses pain control with analgesics and modification of physical activities: * Reduction in physical activity * Ice * NSAIDs for short term symptomatic relief Once symptoms settle, stretching and physiotherapy can be used to strengthen the joint and improve function. In severe cases temporary immobilization with a knee brace or cast may be necessary.

Answer 546

Developmental dysplasia of the hip (DDH) is a congenital abnormality of the hip joint in which the ball of the femur (femoral head) and the socket of the pelvis (acetabulum) do not articulate appropriately. This malalignment can result in the joint dislocating easily and continuing to develop abnormally.

Answer 547

Its caused by abnormal development of the fetal bones during pregnancy. This leads to instability in the hips and a tendency or potential for subluxation or dislocation. These structural abnormalities have the potential to persist into adulthood leading to weakness, recurrent subluxation or dislocation, an abnormal gait and early degenerative changes.

Answer 548

The 5 Fs: * **Female**: The condition is more prevalent in females. * **Firstborn**: Firstborn children have a higher risk. * **Family history**: DDH often runs in families. * **Frank breech presentation** (previously referred to as 'Fanny first'): Babies presenting buttocks or feet first in the womb have a higher risk. * **Fluid**: Low amniotic fluid levels (oligohydramnios) can increase the risk.

Answer 549

**In Infants**: * Different leg lengths * Restricted hip abduction on one side * Significant bilateral restriction in abduction * Difference in the knee level when the hips are flexed * Clunking of the hips on special tests **In Adolescants** (if DDH isn't picked up at birth) * Walking difficulties or a limp. * Delayed walking. * Waddling gait in bilateral cases.

Answer 550

* **Ortolani test** Is done with the baby on their back with their hips and knees flexed. Palms are placed on the baby’s knees with thumbs on the inner thigh and four fingers on the outer thigh. Gentle pressure is used to abduct the hips and apply pressure behind the legs with the fingers to see if the hips will **dislocate anteriorly**. * **Barlow test** Is done with the baby on their back with the hips adducted and flexed at 90 degrees and knees bent at 90 degrees. Gentle downward pressure is placed on knees through femur to see if the femoral head will **dislocate posteriorly**.

Answer 551

* Transient synovitis * Septic arthritis * Legg-Calve-Perthes disease * Slipped capital femoral epiphysis (SCFE)

Answer 552

DDH is screened for on the neonatal examination at birth and 6-8 week old. * Barlow (tests for posterior dislocation) and Ortolani (tests for relocation on hip abduction) manoeuvres are primary screening tools. * **Ulrasound of the hips** can establish a definitive diagnosis especially in infants less than 6 months of age. * In older children, a pelvic Xray may be better.

Answer 553

**Pavlik harness** if the baby presents at less than 6 months of age. The Pavlik harness's aim is to hold the femoral head in the correct position to allow the hip socket (acetabulum) to develop a normal shape. This harness keeps the baby’s hips flexed and abducted. The harness is removed when their hips are more stable, usually after 6 – 8 weeks. **Surgery** is required when the harness fails or the diagnosis is made after 6 months of age. After surgery is performed, an hip spica cast is used to immobilises the hip for a prolonged period.

Answer 554

Juvenile idiopathic arthritis (JIA) refers to a condition affecting children and adolescents where autoimmune inflammation occurs in the joints. It is diagnosed where there is **arthritis without any other cause, lasting more than 6 weeks in a patient under the age of 16**. There are a number of different subtypes

Answer 555

* Systemic JIA * Polyarticular JIA * Oligoarticular JIA * Enthesitis related arthritis * Juvenile psoriatic arthritis

Answer 556

JIA represents the most common cause of chronic joint pain in the paediatric population.

Answer 557

Also known as **Still's Disease**; its a systemic illness (and an idiopathic inflammatory condition) that presents with: * **Subtle salmon-pink rash** * High swinging fevers * Enlarged lymph nodes * Weight loss * Joint inflammation and pain * Splenomegaly * Muscle pain * Pleuritis and pericarditis

Answer 558

* Negative Antinuclear antibodies and rheumatoid factors * Raised inflammatory markers, with raised CRP, ESR, platelets and serum ferritin.

Answer 559

**Macrophage activation syndrome (MAS)** Where there is severe activation of the immune system with a massive inflammatory response. It presents with an acutely unwell child with disseminated intravascular coagulation (DIC), anaemia, thrombocytopenia, bleeding and a non-blanching rash. Key investigation finding: **Low ESR**

Answer 560

Rheumatoid Arthritis However children remain negative from Rheumatoid factor (Seronegative)

Answer 561

It involves idiopathic **inflammatory arthritis in 5 joints or more**. The inflammatory arthritis tends to be symmetrical and can affect the small joints of the hands and feet, as well as the large joints such as the hips and knees. There are **minimal systemic symptoms**, but there can be mild fever, anaemia and reduced growth.

Answer 562

Also knowns as pauciarticular JIA. It involves 4 joints or less, but usually only affects a single joint, which is described as a monoarthritis. It tends to affect the larger joints, often the knee or ankle. There tends to be no systemic symptoms

Answer 563

Most common in Females under 6 years

Answer 564

* inflammatory makers will be normal or mildly elevated * Antinuclear antibodies are often positive * Rheumatoid factor is usually negative

Answer 565

It can be thought of as the paediatric version of the adult seronegative spondyloarthropathy group of conditions (ankylosing spondylitis, psoriatic arthritis, reactive arthritis, IBD related arthritis) Patients have inflammatory arthritis in the joints as well as enthesitis (inflammation of their entheses). Most patients have the HLA-B27 gene As well as the inflammation in their joints and entheses; patients can have: * Psoriasis (psoriatic plaques and nail pitting) * IBD symptoms * And are at a greater risk of anterior uveitis

Answer 566

It is the point at which the tendon of a muscle inserts into a bone

Answer 567

More common in male children over 6 years.

Answer 568

It is an seronegative inflammatory arthritis associated with psoriasis. The pattern of joint involvement varies. Patients can have a symmetrical polyarthritis affecting the small joints similar to rheumatoid, or an asymmetrical arthritis affecting the large joints in the lower limb. It is associated with the following signs: * Plaques of psoriasis on the skin * Pitting of the nails (nail pitting) * Onycholysis (separation of the nail from the nail bed) * Dactylitis (inflammation of the full finger) * Enthesitis

Answer 569

* Infections * Malignancy (Leukemia) * Lupus * Reactive arthritis

Answer 570

It is primarily a **clinical diagnosis of exclusion** once other causes have been ruled out. But the following tests are useful: * **Blood tests**: Complete blood count, Erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), Antinuclear antibodies (ANA), Rheumatoid factor (RF) * **Imaging**: Ultrasound or MRI of affected joints may reveal synovial hypertrophy, effusion or bone erosion. * **Joint aspiration**: To rule out infection or malignancy.

Answer 571

Management depends on the severity of symptoms, and can involve: * **NSAIDs**, such as ibuprofen (First Line) * **Steroids**, either oral, intramuscular or intra-artricular in oligoarthritis * **Disease modifying anti-rheumatic drugs (DMARDs)**, such as methotrexate, sulfasalazine and leflunomide * **Biologic therapy**, such as the tumour necrosis factor inhibitors etanercept, infliximab and adalimumab

Answer 572

* Flexion contractures: May require physical therapy and splinting. * Joint destruction: May necessitate prostheses at a young age. * Growth failure: This can occur as a result of chronic disease and steroid use. * Anterior uveitis: This can lead to visual impairment if not detected and treated early.

Answer 573

Adolescent idiopathic scoliosis (AIS) is a structural spinal deformity characterised by decompensation of the normal vertebral alignment during rapid skeletal growth in otherwise healthy children.

Answer 574

* Occurs in children older than 10 * More severe forms are more common in Females * Peak onset is during the adolescant growth spurt

Answer 575

* Postural Asymmetry * Shoulder, waistline and breast/thoracic Asymmetry * Paraspinal prominences when bending forward * Little to no pain

Answer 576

Standing AP (Anterior Posterior) Xray of the of the cervical, thoracic and lumbar spines.

Answer 577

The goal of management in less severe curvature of the spine is **to prevent progression of the spinal deformity until the patient reaches skeletal maturity**. As once the patient has reached skeletal maturity, the risk of curve progression decreases significantly. This can involve: * Observational Monitoring * Bracing In severe cases of scoliosis surgical spinal arthrodesis may be needed to fix the deformity

Answer 578

Congenital muscular torticollis (CMT) is a neck deformity that involves shortening of the sternocleidomastoid (SCM) muscle resulting in limited neck rotation and lateral flexion. This results in a head tilt to the affected side and rotation to the contralateral side.

Answer 579

More common in Males

Answer 580

More complicated births: * Twin Births * Breech deliveries * Deliveries requiring the use of forceps or the vaccum

Answer 581

* Unilateral contraction of the SCM causing a **lateral flexion towards the affected side with slight rotation of the chin to the contralateral side**. * Reduced neck range of motion * palpable SCM mass * head position preference * plagiocephaly (Flat head on one side)

Answer 582

Diagnosis is often done on clinical presentation; however imaging can be useful: * Ultrasound is the first line * Magnetic resonance imaging (MRI) may be used to rule out non-muscular causes

Answer 583

First line treatment is **physiotherapy and aggressive repositioning** Helmet therapy may be considered for infants with moderate to severe and persisting asymmetry.

Answer 584

**Hypoxia** Normal labour and birth leads to hypoxia. When contractions happen, the placenta is unable to carry out normal gaseous exchange, leading to hypoxia. Extended hypoxia will lead to anaerobic respiration and a subsequent drop in the fetal heart rate (bradycardia). Further hypoxia will lead to reduced consciousness and a drop in respiratory effort, in turn worsening hypoxia. Extended hypoxia to the brain leads to **hypoxic-ischaemic encephalopathy (HIE)**, with potentially life-long consequences in the form of cerebral palsy.

Answer 585

* Babies have a large surface area to weight ratio, and get cold very easily * Babies are born wet, so they loose heat rapidly * Babies that are born through meconium may have this in their mouth or airway

Answer 586

* **Warm The Baby** * **Calculate the APGAR Score** * **Stimulate Breathing** * **Inflation Breaths** * **Chest Compressions**

Answer 587

* Get the baby dry as quickly as possible. Vigorous drying also helps stimulate breathing. * Keep the baby warm with warm delivery rooms and management under a heat lamp * Babies under 28 weeks are placed in a plastic bag while still wet and managed under a heat lamp

Answer 588

* This is done at 1, 5 and 10 minutes whilst resuscitation continues * This is used as an indicator of the progress over the first minutes after birth * It helps guide neonatal resuscitation efforts

Answer 589

* Simulate the baby to prompt breathing, for example by drying vigorously with a towel * Place the baby’s head in a neutral position to keep airway open. A towel under the shoulders can help keep it neutral. * If gasping or unable to breath, check for airway obstruction (i.e. meconium) and consider aspiration under direct visualisation

Answer 590

Inflation breaths are given when the neonate is gasping or not breathing despite adequate initial simulation. * Two cycles of five inflation breaths (lasting 3 seconds each) can be given to stimulate breathing and heart rate * If there is no response and the heart rate is low, 30 seconds of ventilation breaths can be used * If there is still no response, chest compressions can be used, coordinated with the ventilation breaths

Answer 591

* Start chest compressions if **heart rate remains below 60 bpm** despite resuscitation and inflation breaths (see protocol) * Chest compressions are performed at a **3:1 ratio with ventilation breaths**

Answer 592

Its measured out of 10

Answer 593

At least one minute after birth

Answer 594

After birth there is still a significant volume of fetal blood in the placenta. Delayed clamping of the umbilical cord provides time for this blood to enter the circulation of the baby. This is known as **placental transfusion**. It leads to: * improved haemoglobin * iron stores * blood pressure * reduction in intraventricular haemorrhage and necrotising enterocolitis.

Answer 595

The only apparent negative effect is an increase in neonatal jaundice, potentially requiring more phototherapy.

Answer 596

Neonates that require neonatal resuscitation should have their umbilical cord clamped sooner to prevent delays in getting the baby to the resuscitation team. The **priority is resuscitation rather than delayed clamping**.

Answer 597

Neonatal Respiratory Distress Syndrome (NRDS), also known as hyaline membrane disease, is a life-threatening condition primarily affecting premature infants. It is characterized by **deficient production of surfactant**, leading to high alveolar surface tension, alveolar collapse, and resultant respiratory distress.

Answer 598

It primarily affects premature infants, with the risk increasing as the gestational age decreases. The greatest risk is seen in infants born before 28 weeks of gestation

Answer 599

Surfactant production commences from around 26 weeks gestation, reaching sufficient levels only at about 35 weeks. This means premature infants (being born before 35 weeks) at an elevated risk of developing NRDS.

Answer 600

NRDS is caused by an insufficient amount of surfactant, a phospholipid-containing fluid produced by type 2 pneumocytes in the lungs. Surfactant serves to lower the surface tension within alveoli, helping to keep them open. A deficiency in surfactant leads to increased surface tension and subsequent alveolar collapse, triggering respiratory distress.

Answer 601

* Rapid, labored breathing * Flaring nostrils * Grunting sounds during exhalation * Indrawing of the chest wall * Bluish discoloration of the skin due to low oxygen (cyanosis)

Answer 602

* **Transient Tachypnea of the Newborn (TTN)** Presents with rapid breathing, mild cyanosis, and normal breath sounds. Chest x-ray typically shows fluid in the fissures and prominent vascular markings. * **Meconium Aspiration Syndrome (MAS)** Presents with respiratory distress, barrel-shaped chest, and rhonchi or coarse crackles on auscultation. Chest x-ray shows patchy infiltrates. * **Pneumonia**

Answer 603

* The diagnosis of NRDS is mainly clinical, based on the characteristic signs and symptoms and the infant's prematurity. * **Chest x-ray** can show a **'ground glass' appearance**, typical of NRDS. * Blood gas analysis often shows hypoxemia and hypercapnia.

Answer 604

This **increases the production of surfactant** in the baby before birth. Therefore reducing the incidence and severity of respiratory distress syndrome in the baby.

Answer 605

* **Intubation and ventilation** to fully assist breathing if the respiratory distress is severe * **Endotracheal surfactant**, which is artificial surfactant delivered into the lungs via an endotracheal tube * **Continuous positive airway pressure (CPAP)** via a nasal mask to help keep the lungs inflated whilst breathing * **Supplementary oxygen** to maintain oxygen saturations between 91 and 95% in preterm neonates Support with breathing is gradually stepped down as the baby develops and is able to maintain their breathing, until they can support themselves in air.

Answer 606

* Pneumothorax * Infection * Apnoea * Intraventricular haemorrhage * Pulmonary haemorrhage * Necrotising enterocolitis

Answer 607

* Chronic lung disease of prematurity * Retinopathy of prematurity occurs more often and more severely in neonates with RDS * Neurological, hearing and visual impairment

Answer 608

Also known as **chronic lung disease of prematurity (CLDP)** It occurs in premature babies, typically those born before 28 weeks gestation. These babies suffer with **respiratory distress syndrome** and require oxygen therapy or intubation and ventilation at birth.

Answer 609

Chest xray changes alongside when the infant requires oxygen therapy after they reach 36 weeks gestational age.

Answer 610

* Low oxygen saturations * Increased work of breathing * Poor feeding and weight gain * Crackles and wheezes on chest auscultation * Increased susceptibility to infection

Answer 611

**Before Birth**: * Giving corticosteroids (e.g. betamethasone) to mothers that show signs of premature labour at less than 36 weeks gestation. **After Birth** * Using Continuous positive airway pressure (CPAP) rather than intubation and ventilation when possible * Using caffeine to stimulate the respiratory effort * Not over-oxygenating with supplementary oxygen

Answer 612

* A formal sleep study to assess their oxygen saturations during sleep supports the diagnosis and guides management. * Babies may be discharged from the neonatal unit on a low dose of oxygen to continue at home, (e.g. 0.01 litres per minute via nasal cannula). They're followed up to wean them off the oxygen level over the first year of life. * Babies require protection against respiratory syncytial virus (RSV) to reduce the risk and severity of bronchiolitis. This involves **monthly injections of a monoclonal antibody against the virus called palivizumab**

Answer 613

Meconium is the inaugural feces passed by a newborn. Unlike subsequent stools, it has a thicker consistency and dark green hue. Typically, it is passed after delivery; but occasionally, it may be expelled prior to birth into the amniotic fluid, a condition known as "meconium stained liquor".

Answer 614

It is triggered by the passage of meconium from the amniotic fluid into the fetal lungs, leading to blockage and inflammation of the airways. MAS carries significant risk of morbidity and mortality.

Answer 615

* Grunting and chest retractions (due to reduced pulmonary compliance) * DIffuse rales * rhonchi * Tachycardia and hypotension (due to respiartory distress)

Answer 616

* **Hirschsprung Disease** Key signs include failure to pass meconium, abdominal distension, and vomiting. * **Neonatal Sepsis** This presents with unstable temperature, apnea, feeding difficulties, and lethargy. * **Intestinal Atresia** Signs include bilious vomiting, abdominal distension, and failure to pass stool.

Answer 617

* Assessment of amniotic fluid for presence of meconium * Chest X-ray for evaluation of lungs

Answer 618

Management strategies involve: * Immediate suctioning after birth * Oxygen therapy for respiratory support * Potentially antibiotics to prevent secondary bacterial infection.

Answer 619

Hypoxic-ischaemic encephalopathy (HIE) is a condition characterized by brain damage resulting from antenatal or perinatal hypoxia.

Answer 620

Anything that leads to asphyxia (deprivation of oxygen) to the brain can cause HIE, e.g: * **Maternal shock** * **Intrapartum haemorrhage** * **Prolapsed cord**, causing compression of the cord during birth * **Nuchal cord**, where the cord is wrapped around the neck of the baby

Answer 621

* A lack of oxygen in the fetal circulation, which leads to an insufficient oxygen supply to the brain. * This ischemia culminates in irreversible brain damage, both from primary neuronal death (immediate) and secondary reperfusion injury (delayed). * This permanent brain damage can lead to cerebral palsy, and even death.

Answer 622

Sarnat Staging

Answer 623

**Mild**: * Poor feeding, generally irritability and hyper-alert * Resolves within 24 hours * Normal prognosis **Moderate** * Poor feeding, lethargic, hypotonic and seizures * Can take weeks to resolve * Up to 40% develop cerebral palsy **Severe** * Reduced consciousness, apnoeas, flaccid and reduced or absent reflexes * Up to 50% mortality * Up to 90% develop cerebral palsy

Answer 624

* **Meningitis** Fever, stiff neck, altered mental status, and seizures * **Metabolic disorders** Poor feeding, lethargy, seizures, vomiting, and respiratory distress * **Intracranial hemorrhage** Seizures, altered consciousness, apnea, and bulging fontanelle * **Drug withdrawal** Irritability, high-pitched cry, tremors, seizures, and poor feeding

Answer 625

* **EEG monitoring**: To evaluate seizure activity and brain function * **Multiple MRI brain scans**: To assess the extent of brain injury and areas affected

Answer 626

* **Respiratory support**: To ensure sufficient oxygen supply * **Anticonvulsant therapy**: To control seizures * **Careful fluid balance and electrolyte monitoring**: To prevent further complications * **Use of inotropes**: To support blood pressure and cardiac function * **Therapeutic Hypothermia**

Answer 627

Is provided to babies who have HIE. * It involves actively cooling the core temperature of the baby according to a strict protocol. The baby is transferred to neonatal ICU and actively cooled using cooling blankets and a cooling hat, to try and get the core temp down to 33-34°C. * This is continued for 72 hours, after which the baby is gradually warmed to a normal temperature over 6 hours. It's aim is to **reduce the inflammation and neurone loss after the acute hypoxic injury**. It reduces the risk of cerebral palsy, developmental delay, learning disability, blindness and death.

Answer 628

TORCH infections are a group of congenital infections that are passed from mother to the developing foetus or newborn at some time during pregnancy, during delivery, or after birth. It can be caused by any one of a group of infectious agents indicated in the acronym TORCH.

Answer 629

* **T** - Toxoplasma gondii (Causes toxoplasmosis) * **O** - Other agents, such as Treponema pallidum, varicella zoster virus (VZV), parvovirus B19, and human immunodeficiency virus (HIV) * **R** - Rubella * **C** - Cytomegalovirus (CMV) * **H** - Herpes simplex virus (HSV)

Answer 630

* Preterm birth * Delayed development of the fetus (i.e., intrauterine growth restriction) * Physical malformations (e.g., deafness, patent ductus arteriosus) * Loss of the pregnancy (either Miscarriage or Stillbirth)

Answer 631

**Miscarriage** - the loss of a pregnancy during the first 20 weeks. **Stillbirth** - loss of a pregnancy after 20 weeks of gestation.

Answer 632

The presentation of TORCH infections vary depending on the specific infection. But they share some common non-specific symptoms early on: * Fever * development of a small head (i.e., microcephaly) * low birth weight * lethargy or sleepiness * cataracts * hearing loss * congenital heart disease * hepatosplenomegaly (enlargement of the liver and spleen) * reddish-brown spots on their skin (i.e., petechiae or purpura) * yellowish pigmentation of the skin and eyes (i.e., jaundice) * "blueberry muffin" rash, which appears as bluish or purplish marks on the baby’s body. **Later signs include**: * vision impairment or loss * intellectual disability * deafness * seizures.

Answer 633

* Inflammation of the choroid and retina in the eye (i.e., chorioretinitis) * A buildup of fluid in the brain (i.e., hydrocephalus) * Rash * Intracranial calcifications.

Answer 634

If rubella is transferred to the developing fetus during pregnancy, then it can cause Congenital Rubella Syndrome, which is characterised by: * deafness * clouding of the eyes (i.e., cataracts) * rash * heart defects.

Answer 635

* Rashes * deafness * inflammation of the eye (i.e., chorioretinitis) * seizures * an unusually small head (i.e., microcephaly) * intracranial calcifications.

Answer 636

HSV usually infects a newborn during passage through the birth canal. In infants, HSV can cause: * Blisters * Inflammation of the brain, known as meningoencephalitis.

Answer 637

* **prenatal ultrasound** - can unusual fetal findings associated with a TORCH infection (e.g. ventriculomegaly, intracranial calcifications, and fetal growth restriction or retardation). * **Polymerase Chain Reaction** - Is diagnostic for congenital toxoplasmosis, congenital syphilis, and parvovirus B19 infection * CMV can be diagnosed by **viral culture, DNA detection on a PCR test, or by CMV-specific immunoglobulin M (IgM) antibody measurement** * Rubellla is diagnosed by **positive rubella-specific IgM testing**.

Answer 638

**Pyrimethamine** (an antiparasitic medication) and **sulfadiazine** (an antibiotic). If it is suspected that a mother has toxoplasmosis in the early stages of the pregnancy, **spiramycin** (an antibiotic and antiparasitic) is given to prevent transmission to the fetus.

Answer 639

Aggressive treatment with **Acyclovir**

Answer 640

Antiviral medications, like **ganciclovir** Which can reduce the risk of hearing loss and facilitate head growth.

Answer 641

Neonatal jaundice is a clinical condition that presents as a yellowing of a newborn's skin and eyes. It results from the accumulation of bilirubin, a by-product of the breakdown of red blood cells, in the body.

Answer 642

**Physiologic Jaundice** Fetal red blood cells break down more rapidly than normal red blood cells, releasing lots of bilirubin. Normally this bilirubin is excreted via the placenta, however at birth the foetus no longer has access to a placenta to excrete bilirubin. This leads to a normal rise in bilirubin shortly after birth, causing a mild yellowing of skin and sclera from 2 – 7 days of age. This usually resolves completely by 10 days.

Answer 643

Can be split into increased production of Bilirubin and Decreased clearence: **Increased Billirubin Production**: * Haemolytic disease of the newborn * ABO incompatibility * Haemorrhage * Intraventricular haemorrhage * Cephalo-haematoma * Polycythaemia * Sepsis and disseminated intravascular coagulation * G6PD deficiency **Decreased clearance of bilirubin**: * Prematurity * Breast milk jaundice * Neonatal cholestasis * Extrahepatic biliary atresia * Endocrine disorders (hypothyroid and hypopituitary) * Gilbert syndrome

Answer 644

**Causes less than 24 hours**: * Haemolytic disorders (Rhesus incompatibility, ABO incompatibility, G6PD deficiency, spherocytosis) * Congenital infections (TORCH screen indicated) * Sepsis **Causes 24 hours - 14 days** * Physiologic jaundice * Breast milk jaundice * Dehydration * Infection, including sepsis * Haemolysis * Bruising * Polycythaemia * Crigler-Najjar Syndrome **Causes >14 days (>21 if preterm)** * Physiologic jaundice * Breast milk jaundice * Infection * Hypothyroidism * Biliary obstruction (including biliary atresia) * Neonatal hepatitis

Answer 645

Jaundice is “prolonged” when it **lasts longer than would be expected in physiological jaundice**, that being: * More than 14 days in full term babies * More than 21 days in premature babies Prolonged jaundice should prompt further investigation

Answer 646

* Yellowing of the skin and eyes * Poor feeding * Lethargy * In severe cases: **kernicterus** - a rare but serious complication of untreated jaundice. This results from excess bilirubin damaging the brain, particularly the basal ganglia.

Answer 647

* **Haemolytic disorders** Yellow skin and eyes, pallor, splenomegaly * **Congenital infections** Fever, lethargy, poor feeding, rash * **Sepsis** Fever, lethargy, poor feeding, irritability * **Dehydration** Dry mouth, decreased urination, lethargy * **Bruising** Discoloration, swelling, tenderness * **Hypothyroidism** Prolonged jaundice, poor feeding, hypotonia, macroglossia, umbilical hernia * **Biliary obstruction (including biliary atresia)** Prolonged jaundice, clay-colored stools, dark urine * **Neonatal hepatitis** Prolonged jaundice, hepatomegaly

Answer 648

* **Full blood count and blood film** (for polycythaemia or anaemia) * **Conjugated bilirubin** - elevated levels indicate a hepatobiliary cause * **Blood type testing of mother and baby** - for ABO or rhesus incompatibility * **Direct Coombs Test** - (direct antiglobulin test) for haemolysis * **Thyroid function** - for hypothyroidism * **Blood and urine cultures** - if infection is suspected. * **Glucose-6-phosphate-dehydrogenase (G6PD) levels** - for G6PD deficiency

Answer 649

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

Answer 650

* **Phototherapy** is first line management. And this is usually adequate to correct neonatal jaundice. * Extremely high levels may require an **exchange transfusion**. This involves removing blood from the neonate and replacing it with donor blood.

Answer 651

* Phototherapy **converts unconjugated bilirubin into isomers that can be excreted in the bile and urine without requiring conjugation in the liver**. * It involves removing clothing down to the nappy to expose the skin and eye patches to protect the eyes. Then a light-box shines blue light on the baby’s skin. (Little or no UV light is used). * Double phototherapy involves two light-boxes. Bilirubin is closely monitored during treatment. * Once phototherapy is complete, a rebound bilirubin should be measured 12 – 18 hours after stopping to ensure the levels do not rise about the treatment threshold again.

Answer 652

Kernicterus is a **type of brain damage caused by excessive bilirubin levels**. It's the main reason we treat neonatal jaundice to keep bilirubin levels below certain thresholds.

Answer 653

* Bilirubin is able to cross the blood-brain barrier. Once in the brain, the high bilirubin levels cause **direct irreversible damage** to the central nervous system. * This permanent brain damage can result in cerebral palsy, learning disability and deafness.

Answer 654

It presents as a **less responsive, floppy, drowsy baby with poor feeding**.

Answer 655

Necrotising enterocolitis (NEC) is a severe gastrointestinal disease that primarily affects premature infants. The condition is **characterised by necrosis (tissue death) of the intestine** due to ischaemia (lack of blood flow) and infection, leading to severe illness and sometimes perforation of the bowel.

Answer 656

* It usually presents within the **first three weeks of life in premature neonates**. * But it can occasionally affect full-term infants as well. * It is fatal in 1/5 of cases

Answer 657

* Very low birth weight or very premature * Formula feeds (it is **less common in babies fed by breast milk**) * Respiratory distress and assisted ventilation * Sepsis * Patient ductus arteriosus and other congenital heart disease

Answer 658

* Intolerance to feeds * Vomiting (may be streaked with green bile) * Distended, tender abdomen * Absent bowel sounds * Blood in stools If perforation occurs there will be peritonitis and shock and the neonate will be severely unwell.

Answer 659

* **Sepsis** May present with systemic signs of illness, vomiting, poor feeding, and lethargy. * **Gastroenteritis** Presents with diarrhoea and vomiting, but usually without the severe abdominal distension seen in NEC. * **Intestinal malrotation with volvulus** Typically presents with bilious vomiting, abdominal pain and bloody stools. * **Hirschsprung's disease** Presents with abdominal distension, constipation, and failure to pass meconium within 48 hours of birth.

Answer 660

**Blood Tests**: * Full blood count for thrombocytopenia and neutropenia * CRP for inflammation * Capillary blood gas will show a metabolic acidosis * Blood culture for sepsis **Diagnostic**: * Abdominal Xray (from the supine position). But additional views (lateral and lateral decubitus) may also be helpful.

Answer 661

* Dilated loops of bowel * Bowel wall oedema (thickened bowel walls) * Gas in the portal veins * **Pneumatosis intestinalis** - is gas in the bowel wall and is a sign of NEC * **Pneumoperitoneum** - is free gas in the peritoneal cavity and indicates perforation

Answer 662

**Medical Management**: * Nil by Mouth * IV Fluids * Total parenteral nutrition (TPN) * Broad spectrum antibiotics * A **nasogastric tube can be inserted** to drain fluid and gas from the stomach and intestines (**Gastric Decompression**) **Surgical Management**: * Necrotising enterocolitis is a surgical emergency and requires immediate referral to the neonatal surgical team. * Some neonates will recover with medical treatment. But In others, surgery may be required to **remove the dead bowel tissue**. * Babies may be left with a temporary stoma if significant bowel is removed.

Answer 663

* **Perforation and peritonitis** * Sepsis * Death * Strictures * Abscess formation * Recurrence * Long term stoma * Short bowel syndrome after surgery

Answer 664

* Encouraging breastfeeding in mothers of premature babies. * Delayed cord clamping at delivery.

Answer 665

* It is a birth defect where a hole in the abdominal wall beside the belly button allows the **baby's intestines to extend outside of the baby's body**. * The hole can be small or large and sometimes other organs, such as the stomach and liver, can be found outside of the baby's body as well.

Answer 666

**Simple Gastroschitis** - only the bowel makes its way out of the abdominal opening. **Complicated Gastroschitis** - Where one or more of the following occurs: * The bowel outside of the baby’s body is extremely damaged, (e.g., a portion of the tissue has died (necrosis), or the bowel has become twisted. * Intestinal atresia, which occurs when part of the baby’s bowel doesn’t form completely, or the intestine is blocked. * Other organs, such as the stomach or liver, protrude out of the opening as well.

Answer 667

It is most commonly diagnosed by Prenatal ultrasound around weeks 18-20 of pregnancy.

Answer 668

The only way to treat gastroschitis is with surgery. This can either be done as a: * **Primary Repair** - This is done for simple gastroschitis and is where the bowel is placed back inside of the baby’s belly and the abdominal opening is closed. This is usually done the day the baby is born. * **Staged Repair** - Is usually done for complicated gastroschitis. In this case a plastic pouch or “silo” is placed around the bowel and attached to the belly. Every day the silo is tightened and some of the bowel is gently pushed inside. When all the bowel is inside, the silo is removed, and the belly is closed. This can last up to 2 weeks.

Answer 669

* Duodenal atresia is a congenital malformation characterized by the presence of a **blind-ending duodenum, which is not patent**. * This abnormality leads to an obstruction of the gastrointestinal tract.

Answer 670

It occurs as a result of **failed recanalization of the embryonic duodenum** during the gestational period.

Answer 671

Down's Syndrome Other intestinal atresias **VACTERL** association: * Vertebral defects * Anal atresia * Cardiac defects * Tracheo-esophageal fistula * Renal anomalies * Limb abnormalities

Answer 672

**Antenatally**: Polyhydramnios due to inadequate ingestion of amniotic fluid by the fetus **Postnatally**: * Distended abdomen * Vomiting * The vomitus may be bilious or non-bilious. Depending on the site of atresia.

Answer 673

* **Other causes of neonatal intestinal obstruction** (e.g. **jejunoileal atresia** or **malrotation**). They also present with symptoms of vomiting and abdominal distension. However, jejunoileal atresia often presents with a more distal obstruction pattern and malrotation may be accompanied by pain. * **Gastroesophageal reflux disease (GORD)** Which can also cause vomiting, but is usually associated with irritability and feeding problems. * **Pyloric stenosis** Which presents with non-bilious, projectile vomiting and a palpable 'olive' mass in the abdomen.

Answer 674

**Abdominal Xray** * This shows a characteristic **'double bubble' sign**. This includes one gas bubble visible in the stomach, and another in the proximal, patent part of the duodenum prior to the atresia. * This pattern occurs due to air from the stomach being trapped between the pyloric sphincter and the blind end of the duodenum.

Answer 675

* Primary management is **Surgical repair**, specifically **duodenoduodenostomy**. * This procedure involves reconnecting the closed proximal and distal segments of the duodenum to alleviate the obstruction.

Answer 676

Gestational diabetes refers to **diabetes triggered by pregnancy**. It is caused by reduced insulin sensitivity during pregnancy, and resolves after birth. Its defined as glucose intolerance with: * **Fasting blood glucose levels ≥ 5.6 mmol/L** or * **2-hour plasma glucose levels ≥ 7.8 mmol/L** * Both on a **75g Oral Glucose Tolerance Test** (OGTT).

Answer 677

* Previous gestational diabetes * Previous macrosomic baby (≥ 4.5kg) * Maternal obesity; BMI > 30 * Ethnic origin (black Caribbean, Middle Eastern and South Asian) * Family history of diabetes (first-degree relative) * History of stillbirth or perinatal death

Answer 678

It often asymptomatic, but it can present with the classic symptoms of Diabetes: * Polyuria * Thirst * Fatigue

Answer 679

* **Type 1 or Type 2 Diabetes Mellitus** Generally presents with symptoms outside of pregnancy, including potential weight loss * **Other forms of gestational hyperglycaemia** These can be identified through early pregnancy HbA1c testing

Answer 680

**Oral Glucose Tolerance Test** * Fasting blood glucose level (fasting glucose **≥5.6 mmol/L**) * 2-hour plasma glucose level (2-hour glucose **≥7.8 mmol/L**) This is done in the morning after a fast. The patient drinks a 75g glucose drink at the start of the test. The blood sugar level is measured before the sugar drink (fasting) and then at 2 hours. * **HbA1c** - May also be helpful in distinguishing between gestational and pre-existing diabetes early in pregnancy. * **Urinalysis** - To check for glycosuria | **Diagnosis of GDM is as easy as 5678**

Answer 681

* **Macrosomia (birthweight >4kg)** Excess maternal glucose crossing the placenta and inducing increased fetal insulin production can lead to macrosomia, increasing the risk of shoulder dystocia, birth injuries, and emergency caesarean section * **Increased risk of sacral agenesis** in the developing foetus * **Pre-term delivery** May cause neonatal respiratory distress syndrome * **Neonatal hypoglycaemia** High fetal insulin levels after delivery may lead to hypoglycaemia, which if severe, may result in seizures in the baby * **Long-term risk** Increased risk of the baby developing type 2 diabetes later in life

Answer 682

* Increased risk of hypertension and pre-eclampsia * Future risk: Increased risk of developing type 2 diabetes and GDM in subsequent pregnancies

Answer 683

**Initial Management**: * **Fasting glucose less than 7 mmol/l**: Trial of diet and exercise for 1-2 weeks, followed by metformin, then insulin * **Fasting glucose above 7 mmol/l** start insulin ± metformin * **Fasting glucose above 6 mmol/l plus macrosomia (or other complications)** start insulin ± metformin * Glibenclamide (a sulfonylurea) if the mother declines insulin or cannot tolerate metformin Mothers need four weekly ultrasound scans to monitor the fetal growth and amniotic fluid volume from 28 to 36 weeks gestation. Women with gestational diabetes also need to moniter their blood sugar levels several times daily.

Answer 684

* Fasting: 5.3 mmol/l * 1 hour post-meal: 7.8 mmol/l * 2 hours post-meal: 6.4 mmol/l * Avoiding levels of 4 mmol/l or below

Answer 685

**For Mothers** * Gestational diabetes **improves immediately after birth**. * Women with gestational diabetes can stop their diabetic medications immediately after birth. * They need follow up to test their fasting glucose after at least six weeks (to ensure that their GDM has resolved) **For Neonates**: * Babies need close **monitoring for neonatal hypoglycaemia**, with regular blood glucose checks and frequent feeds. * The aim is to maintain their blood sugar above 2 mmol/l, and if it falls below this, they may need **IV dextrose or nasogastric feeding**.

Answer 686

Oesophageal atresia refers to a **congenital disorder** in which the **oesophagus terminates in a blind-ended pouch** rather than connecting normally to the stomach.

Answer 687

It's thought to result from an **aberration in the embryological development of the foregut** during the **fourth week of gestation**.

Answer 688

**Antenatal**: * Polyhydramnios. The baby's inability to swallow and absorb amniotic fluid due to the blind-ending oesophagus can lead to excessive accumulation of this fluid, leading to polyhydramnios. **Postnatal**: * Respiratory distress * Distended abdomen * Choking or problems with swallowing, as seen by difficulty in feeding and excess saliva * Difficulty in passing a nasogastric (NG) tube.

Answer 689

**Congenital Diaphragmatic Hernia**: * Respiratory distress * Bowel sounds in the chest * Absent breath sounds on one side **Duodenal Atresia**: * Polyhydramnios * Distended abdomen * Bilious vomiting **Gastroesophageal Reflux Disease (GORD)**: * Irritability during feeding * Frequent vomiting or spit up * Failure to gain weight

Answer 690

* **Radiographic examination** Typically involving a coiled nasogastric tube on an anteroposterior chest radiograph, can help in diagnosing oesophageal atresia * **Echocardiography and renal ultrasound** Recommended to check for associated congenital anomalies * **Genetic counselling and testing** May be considered in some cases due to potential genetic contributions

Answer 691

**Primary management**: Surgical intervention to correct the anatomical abnormalities. This can be performed soon after birth to connect the two parts of the oesophagus and close off any fistula with the trachea. **Postoperative care**: Involves monitoring for complications like anastomotic leaks, strictures, or recurrent fistula, as well as managing nutritional and respiratory support as required.

Answer 692

* Uncontrolled hyperthyroidism can lead to a preterm birth (before 37 weeks of pregnancy) and low birth weight for the baby. * In mothers with Graves Disease, there is a 1% chance that this can cause Graves disease in the newborn. * There's a possible increased risk pregnancy-induced hypertension.

Answer 693

* This is because the most commonly prescribed anti-thyroid medication (**Methimazole**), can be associated with birth defects. * The reccomendation is to **switch to Propylthiouracil (PTU) for the first trimester**. Then to switch back to Methimazole for the second trimester, and the remainder of the pregnancy. * The use of radioactive iodine is also not safe to use for the duration of the pregnancy.

Answer 694

* Hypoglycaemia is a metabolic condition characterized by an abnormally low blood glucose level. * Typically defined as less than 3.5 mmol/L.

Answer 695

* **Drugs**: Insulin, Sulphonylureas, GLP-1 analogues, DPP-4 inhibitors, Beta-blockers * Alcohol * Acute liver failure * Sepsis * Adrenal insufficiency * Insulinoma * Glycogen storage disease

Answer 696

**Adrenergic Symptoms** (Blood glucose concentrations **less than 3.3 mmol/L**): * Trembling * Sweating * Palpitations * Hunger * Headache **Neuroglycopenic Symptoms** (Blood glucose concentrations less than **2.8 mmol/L**): * Double vision * Difficulty concentrating * Slurred speech * Confusion * Coma

Answer 697

* **Diabetic ketoacidosis** May cause hypoglycaemia due to insulin treatment. Symptoms include polydipsia, polyuria, fatigue, and abdominal pain. * **Adrenal insufficiency** Lack of cortisol may lead to hypoglycaemia. Features include fatigue, weight loss, hyperpigmentation, and hypotension. * **Insulinoma** Insulin-secreting tumor resulting in hypoglycaemia. Symptoms mimic hypoglycaemia but can occur after meals. * **Alcohol intoxication** Alcohol can inhibit hepatic gluconeogenesis, leading to hypoglycaemia. Symptoms include confusion, ataxia, slurred speech, and coma.

Answer 698

Hypoglycaemia is diagnosed with **Whipple's Triad**: * Plasma hypoglycaemia * Symptoms attributable to a low blood sugar level * Resolution of symptoms with correction of the hypoglycaemia Investigations can involve: * Medication review * Serum insulin, C-peptide, and proinsulin levels (to differentiate between exogenous and endogenous insulin sources) * 72-hour fast test to demonstrate episodic hypoglycaemia. * 8am cortisol and/or synACTHen testing for adrenal insufficiency. * Abdominal imaging (CT/MRI/PET) to locate a possible insulinoma.

Answer 699

* High insulin AND high C-peptide and proinsulin imply endogenous production e.g. insulinoma * High insulin AND low C-peptide and proinsulin suggest exogenous administration.

Answer 700

**Mild Hypoglycaemia** (Patient is conscious): * ABCDE approach * Consume 15-20g of fast-acting carbohydrate (e.g., glucose tablets, non-diet soda, sweets, fruit juice). * Avoid chocolate due to slower absorption. * Follow up with slower-acting carbohydrates (e.g., toast). **Severe Hypoglycaemia** (e.g. Seizures, Unconsciousness): * ABCDE approach * Administer 200ml 10% dextrose IV. * Administer 1mg glucagon IM if no IV access (Note: this won't work if alcohol ingestion is the cause due to its action blocking gluconeogenesis). * Manage prolonged or repeated seizures. **Aftercare**: * Consider medication changes. * Investigate non-drug causes if necessary.

Answer 701

Group B Streptococcus (GBS) infection is a bacterial infection caused by the bacterium **Streptococcus agalactiae**.

Answer 702

GBS infection in neonates usually results from **vertical transmission** of the bacteria from mother to child during childbirth.

Answer 703

* Positive GBS culture in current or previous pregnancy * Previous birth resulting in neonatal GBS infection * Pre-term labour * Prolonged rupture of membranes * Intrapartum fever >38 degrees Celsius * Chorioamnionitis

Answer 704

* Sepsis * Pneumonia * Meningitis

Answer 705

* Blood Cultures * CSF Analysis

Answer 706

The most effective management is **prevention**. * This is done by intrapartum antibiotic prophylaxis. * Antibiotics, (commonly penicillin), are administered intravenously during labour and delivery if risk factors for GBS infection are present.

Answer 707

* Listeriosis is an infection caused by the **bacterium Listeria monocytogenes**, often contracted through **foodborne transmission**. * It can be dangerous for pregnant women and people with weakened immune systems.

Answer 708

* Listeria monocytogenes, the causative agent of listeriosis, is a ubiquitous organism found in many food products, particularly unpasteurised dairy products and soft cheeses. * **Vertical transmission** of Listeria from a pregnant mother to the foetus can also occur **through the placenta** or **during delivery**.

Answer 709

Listeriosis typically presents as one of the following conditions: * **Neonatal sepsis**: Acute, life-threatening bacterial infection in the blood. * **Meningitis**: Inflammation of the protective membranes covering the brain and spinal cord. * **Respiratory distress** due to aspiration of infected amniotic fluid: Difficulty breathing caused by inhalation of infected amniotic fluid. **Other manifestations** include: * Chorioamnionitis * Premature labour * Stillbirth.

Answer 710

**Cultures for Listeria** should be carried out; which can involve: * Blood cultures * Cerebrospinal fluid cultures * Placental and meconium cultures

Answer 711

* Primary treatment involves a combination of the antibiotics **ampicillin and an aminoglycoside**

Answer 712

* Avoidance of potentially contaminated food products in pregnant women. * Cultures for Listeria should be carried out in cases of unexplained febrile illness or suspicion of infection while pregnant.

Answer 713

**Cleft lip** Is a congenital condition where there is a split or open section of the upper lip. This opening can occur at any point along the top lip, and can extend as high as the nose. **Cleft Palate** Is where a defect exists in the hard or soft palate at the roof of the mouth. This leaves an opening between the mouth and the nasal cavity. Cleft lip and cleft palate can occur together or on their own.

Answer 714

Even though most cases of cleft lip and cleft palate occur randomly; * Having a **relative with cleft lip or palate** makes it slightly more likely. * 3 in 10 cases of cleft lip or palate are associated with another underlying syndrome.

Answer 715

* Cleft lip or cleft palate is not life threatening. * **Problems with feeding, swallowing and speech**. * **Psycho-social issues**, including affecting **bonding between mother and child**, (but surgery generally resolves these problems). * More prone to **hearing problems, ear infections and glue ear**.

Answer 716

* The first priority is to **ensure the baby can eat and drink**. This may involve specially shaped bottles and teats. * Definitive treatment is to **surgically correct the cleft lip or palate**. This leaves a subtle scar, but is generally very successful, giving full functionality to the child.

Answer 717

* **Cleft Lip Surgery** - At 3 months * **Cleft Palate Surgery** - At 6 - 12 months

Answer 718

Congenital varicella syndrome is a condition that arises when a non-immune woman contracts the varicella zoster virus (VZV) during her first trimester of pregnancy. VZV is the causative virus of chicken pox and shingles. It can have teratogenic effects in the neonate.

Answer 719

* Low birth weight * Limb hypoplasia * Skin scarring * Microcephaly * Eye defects * Learning disabilities

Answer 720

* **Rubella syndrome** Characterised by deafness, eye defects, and cardiac abnormalities. * **Cytomegalovirus infection** Presents with microcephaly, hearing loss, and learning disabilities. * **Toxoplasmosis** Exhibits eye defects, hydrocephalus, and calcifications in the brain.

Answer 721

Diagnosis is primarily clinical

Answer 722

Post delivery, the neonate should be monitored and given **IV acyclovir**.