Paediatrics Flashcards

Question

Describe the stepwise management of acute asthma exacerbations for moderate to severe cases

Answer 1

Salbutamol inhalers via a spacer device: starting with 10 puffs every 2 hours Nebulisers with salbutamol / ipratropium bromide Oral prednisone (e.g. 1mg per kg of body weight once a day for 3 days) IV hydrocortisone IV magnesium sulphate IV salbutamol IV aminophylline intubation and ventilation

Answer 2

Consider monitoring the serum potassium when on high doses of salbutamol as it causes potassium to be absorbed from the blood into the cells. It is also worth noting that salbutamol causes tachycardia and tremor.

Answer 3

chronic inflammatory airway disease leading to variable airway obstruction in response to a stimulus and causing bronchoconstriction

Answer 4

--> Episodic symptoms with intermittent exacerbations --> Diurnal variability, typically worse at night and early morning --> Dry cough with wheezing and shortness of breath --> Typical triggers --> A history of other atopic conditions such as eczema, hayfever and food allergies --> Family history of asthma or atopy --> Bilateral widespread “polyphonic” wheeze heard by a healthcare professional --> Symptoms improve with bronchodilators

Answer 5

--> Wheeze only related to coughs and colds, more suggestive of viral induced wheeze --> Isolated or productive cough --> Normal investigations --> No response to treatment --> Unilateral wheeze suggesting a focal lesion inhaled foreign body or infection

Answer 6

Dust (house dust mites) Animals Cold air Exercise Smoke Food allergens (e.g. peanuts, shellfish or eggs)

Answer 7

--> History and presentation --> if diagnosis is likely can give a trial of treatment --> Spirometry with reversibility testing (in children aged over 5 years) --> Direct bronchial challenge test with histamine or methacholine --> Fractional exhaled nitric oxide (FeNO) --> Peak flow variability is measured by keeping a diary of peak flow measurements several times a day for 2 to 4 weeks

Answer 8

1) Start a short-acting beta-2 agonist inhaler (e.g. salbutamol) as required 2) Add a low dose corticosteroid inhaler or a leukotriene antagonist (i.e. oral montelukast) 3) Add the other option from step 2. 4) Refer to a specialist.

Answer 9

1) Start a short-acting beta-2 agonist inhaler (e.g. salbutamol) as required 2) Add a regular low-dose corticosteroid inhaler 3) Add a long-acting beta-2 agonist inhaler (e.g. salmeterol). Continue salmeterol only if the patient has a good response. 4) Titrate up the corticosteroid inhaler to a medium dose. Consider adding: - Oral leukotriene receptor antagonist (e.g. montelukast) - Oral theophylline 5) Increase the dose of the inhaled corticosteroid to a high dose. 6) Referral to a specialist. They may require daily oral steroids.

Answer 10

SAME AS ADULTS 1) Start a short-acting beta 2 agonist inhaler (e.g. salbutamol) as required 2) Add a regular low-dose corticosteroid inhaler 3) Add a long-acting beta-2 agonist inhaler (e.g. salmeterol). Continue salmeterol only if the patient has a good response. 4) Titrate up the corticosteroid inhaler to a medium dose. Consider a trial of an oral leukotriene receptor antagonist (i.e. montelukast), oral theophylline or an inhaled LAMA (i.e. tiotropium). 5) Titrate the inhaled corticosteroid up to a high dose. Combine additional treatments from step 4, including the option of an oral beta 2 agonist (i.e. oral salbutamol). Refer to a specialist. 6) Add oral steroids at the lowest dose possible to achieve good control under specialist guidance.

Answer 11

Remove the cap Shake the inhaler (depending on the type) Sit or stand up straight Lift the chin slightly Fully exhale Make a tight seal around the inhaler between the lips Take a steady breath in whilst pressing the canister Continue breathing for 3 – 4 seconds after pressing the canister Hold your breath for 10 seconds or as long as comfortably possible Wait 30 seconds before giving a further dose Rinse the mouth after using a steroid inhaler

Answer 12

Assemble the spacer Shake the inhaler (depending on the type) Attach the inhaler to the correct end Sit or stand up straight Lift the chin slightly Make a seal around the spacer mouthpiece or place the mask over the face Spray the dose into the spacer Take steady breaths in and out 5 times until the mist is fully inhaled

Answer 13

Viral-induced wheeze describes is an acute wheezy illness caused by a viral infection.

Answer 14

Small children (typically under 3 years) have small airways. When these small airways encounter a virus (commonly RSV or rhinovirus) they develop a small amount of inflammation and oedema, swelling the walls of the airways and restricting the space for air to flow. This inflammation also triggers the smooth muscles of the airways to constrict, further narrowing the space in the airway.

Answer 15

Small children (typically under 3 years) have small airways. When these small airways encounter a virus (commonly RSV or rhinovirus) they develop a small amount of inflammation and oedema, swelling the walls of the airways and restricting the space for air to flow. This inflammation also triggers the smooth muscles of the airways to constrict, further narrowing the space in the airway. Air flowing through these narrow airways causes a wheeze, and the restricted ventilation leads to respiratory distress

Answer 16

--> Presenting before 3 years of age --> No atopic history --> Only occurs during viral infections Asthma can also be triggered by viral or bacterial infections, however, it also has other triggers, such as exercise, cold weather, dust and strong emotions. Asthma is historically a clinical diagnosis, and the diagnosis is based on the presence of typical signs and symptoms along with variable and reversible airflow obstruction.

Answer 17

Evidence of a viral illness (fever, cough and coryzal symptoms) for 1-2 days preceding the onset of: Shortness of breath Signs of respiratory distress Expiratory wheeze throughout the chest

Answer 18

Inhaled foreign body or tumour or infection

Answer 19

same as in acute exacerbation of asthma

Answer 20

inflammation and infection of the bronchioles (small airways of the lungs)

Answer 21

RSV - respiratory syncytial virus

Answer 22

Adults have larger airways so inflammation and mucus production doesn't cause a problem whereas children have smaller airways to begin with.

Answer 23

most common for children under 6 months but can occur in under 1's

Answer 24

--> Coryzal symptoms - viral URTI signs - running and snotty nose, sneezing, mucus in the throat and watery eyes --> Signs of respiratory distress --> Dyspnoea - heavy laboured breathing --> tachypnoea --> poor feeding --> mild fever under 39 --> apnoeas - episodes where the child stops breathing --> wheeze and crackles on auscultation

Answer 25

Raised respiratory rate Use of accessory muscles of breathing, such as the sternocleidomastoid, abdominal and intercostal muscles Intercostal and subcostal recessions Nasal flaring Head bobbing Tracheal tugging Cyanosis (due to low oxygen saturation) Abnormal airway noises

Answer 26

--> Wheezing is a whistling sound caused by narrowed airways, typically heard during expiration

Answer 27

--> Stridor is a high pitched inspiratory noise caused by obstruction of the upper airway, for example in croup

Answer 28

Bronchiolitis starts with URTI with coryzal symptoms/ half gets better spontaneously/the other half develops chest symptoms/ Sx last for 7 to 10 days/ children who have had bronchiolitis are more likely to have viral-induced wheeze during childhood.

Answer 29

--> Most require supportive management --> Ensuring adequate intake - Depending on the severity, this could be done orally, via NG tube or IV fluids. It is important to avoid overfeeding as a full stomach will restrict breathing. Start with frequent small feeds and gradually increase them as tolerated. --> Saline nasal drops and nasal suctioning can help clear nasal secretions, particularly prior to feeding --> supplementary oxygen - of sats below 92% --> Ventilatory support if required (CPAP or intubation and ventilation as the child gets tired)

Answer 30

--> Capillary blood gases

Answer 31

--> Rising pCO2, showing that the airways have collapsed and can’t clear waste carbon dioxide. --> Falling pH, showing that CO2 is building up and they are not able to buffer the acidosis this creates. This is respiratory acidosis. If they are also hypoxic, this is classed as type 2 respiratory failure.

Answer 32

--> Palivizumab - monoclonal antibody --> monthly injection --> Passive protection for high-risk - ex-premature or congenital heart disease

Answer 33

--> autosomal recessive genetic condition affecting the mucus glands, Mutation of the CFTR gene on chromosome 7, gene codes for chloride cellular channels

Answer 34

--> 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 35

--> Cystic fibrosis is screened for at birth with the newborn bloodspot test. --> Meconium ileus is often the first sign of cystic fibrosis. should be black and should be passed within 24 hours of birth. In about 20% of babies with CF, the meconium is thick and sticky, causing it to get stuck and obstruct the bowel. This is called meconium ileus and is practically pathognomonic for cystic fibrosis. This presents as not passing meconium within 24 hours, abdominal distention and vomiting. If cystic fibrosis is not diagnosed shortly after birth it can present later in childhood with typical signs and symptoms, recurrent lower respiratory tract infections, failure to thrive or pancreatitis.

Answer 36

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 Parents may report the child tastes particularly salty when they kiss them, due to the concentrated salt in the sweat Poor weight and height gain (failure to thrive)

Answer 37

Low weight or height on growth charts Nasal polyps Finger clubbing Crackles and wheezes on auscultation Abdominal distension

Answer 38

--> Hereditary clubbing --> Cyanotic heart disease --> Infective endocarditis --> Cystic fibrosis --> Tuberculosis --> Inflammatory bowel disease --> Liver cirrhosis

Answer 39

--> Newborn blood spot testing is performed on all children shortly after birth and picks up most cases --> The sweat test is the gold standard for diagnosis --> Genetic testing for the CFTR gene can be performed during pregnancy by amniocentesis or chorionic villous sampling, or as a blood test after birth

Answer 40

--> Staph aureus - given prophylactic flucloxacillin to prevent staph --> Pseudomonas - troublesome and worsens the prognosis of patients with CF, resistant to many types of abx, ciprofloxacin can be used

Answer 41

--> 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 A 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

Answer 42

--> inflammation and swelling of the epiglottis and can swell to the point where airway is obstructed completely so if a life-threatening emergency

Answer 43

Haemophilus influenza type B infection

Answer 44

A patient presenting with a sore throat and stridor Drooling Tripod position sat forward with a hand on each knee High fever Difficulty or painful swallowing Muffled voice Scared and quiet child Septic and unwell appearance

Answer 45

A patient presenting with a sore throat and stridor Drooling Tripod position sat forward with a hand on each knee High fever Difficulty or painful swallowing Muffled voice A scared and quiet child Septic and unwell appearance

Answer 46

--> if acutely unwell then investigations should not be performed, performing lateral x-ray of neck can show thumb sign, X-rays good for ruling out foreign body

Answer 47

--> important to not distress the patient - can cause prompt closure of the airway --> Intubation preparation and secure the airway --> once airways secure Iv abx (ceftriaxone) and steroids (dexamethasone) can be given

Answer 48

--> hole in the septum between the two atria

Answer 49

--> leads to a shunt between two atria --> blood moves from the left atrium to the right atrium as high pressure in left --> blood continues to flow into the pulmonary vessels and lungs to get oxygenetated and patient does not become cyanotic, but can lead to right heart strain and right heart failure and pulmonary hypertension

Answer 50

--> Eventually pulmonary hypertension can lead to Eisenmengers syndrome --> This is where pulmonary pressure is greater than systemic pressure --> shunt reverses and forms a right to left shunt across the ASD, blood bypasses the lungs and the patient becomes cyanotic

Answer 51

--> Stroke in the context of venous thromboembolism - clot travels to right side but can be shunted to left atrium --> Atrial fibrillation or atrial flutter --> Pulmonary hypertension and right-sided heart failure --> Eisenmenger syndrome

Answer 52

--> causes a mid-systolic, crescendo-decrescendo murmur loudest in the upper left sternal border --> may be asymptomatic --> adults - dyspnoea, heart failure or stroke --> Children - SOB, difficulty feeding, poor weight gain and LRTI

Answer 53

--> Referral to a paediatric cardiologist --> corrected surgically using transverse catheter closure or open heart surgery --> anticoagulants are used to reduce the risk of clots and stroke in adults

Answer 54

congenital hole in the septum between the two ventricles

Answer 55

--> Downs syndrome --> Turners syndrome

Answer 56

Due to the increased pressure in the left ventricle compared to the right, blood typically flows from left the right through the hole. Blood is still flowing around the lungs before entering the rest of the body, therefore they remain acyanotic (not cyanotic) because their blood is properly oxygenated. A left-to-right shunt leads to right-sided overload, right heart failure and increased flow into the pulmonary vessels. The extra blood flowing through the right ventricle increases the pressure in the pulmonary vessels over time, causing pulmonary hypertension. If this continues, the pressure in the right side of the heart may become greater than the left, resulting in the blood being shunted from right to left and avoiding the lungs. When this happens the patient will become cyanotic because blood is bypassing the lungs. This is called Eisenmenger Syndrome.

Answer 57

--> initially asymptomatic - picked up on antenatal scans and murmurs on newborn baby checks --> symptoms - poor feeding/ dyspnoea/ tachypnoea/ failure to thrive

Answer 58

--> pan systolic murmur heard at the lower left sternal border may be a systolic thrill on palpation

Answer 59

--> VSD --> mitral regurgitation --> tricuspid regurgitation

Answer 60

Treatment should be coordinated by a paediatric cardiologist. Small VSDs with no symptoms or evidence of pulmonary hypertension or heart failure can be watched over time. Often they close spontaneously. VSDs can be corrected surgically using a transvenous catheter closure via the femoral vein or open heart surgery. There is an increased risk of infective endocarditis in patients with a VSD. Antibiotic prophylaxis should be considered during surgical procedures to reduce the risk of developing infective endocarditis.

Answer 61

-->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 its called patent ductus arteriosus

Answer 62

--> prematurity

Answer 63

signs of heart failure

Answer 64

--> The pressure in the aorta is higher than that in the pulmonary vessels, so blood flows from the aorta to the pulmonary artery. --> This creates a left-to-right shunt where blood from the left side of the heart crosses to the circulation from the right side. --> This increases the pressure in the pulmonary vessels causing pulmonary hypertension, leading to right-sided heart strain as the right ventricle struggles to contract against the increased resistance. --> 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 65

A patent ductus arteriosus can be picked up during the newborn examination if a murmur - left upper chest continuous machine-like murmur is heard. It may also present with symptoms of: Shortness of breath Difficulty feeding Poor weight gain Lower respiratory tract infections

Answer 66

continuous crescendo-decrescendo “machinery” murmur that may continue during the second heart sound, making the second heart sound difficult to hear.

Answer 67

--> Echocardiogram - can also assess the hypertrophy effects on the heart

Answer 68

--> Patients are typically monitored until 1 year of age using echocardiograms. After 1 year of age, it is highly unlikely that the PDA will close spontaneously and trans-catheter or surgical closure can be performed. Symptomatic patients or those with evidence of heart failure as a result of PDA are treated earlier.

Answer 69

Coarctation of the aorta is a congenital condition where there is narrowing of the aortic arch

Answer 70

--> Turners syndrome

Answer 71

Narrowing of the aorta reduces the pressure of blood flowing to the arteries that are distal to the narrowing. It increases the pressure in areas proximal to the narrowing, such as the heart and the first three branches of the aorta.

Answer 72

Often the only indication of coarctation in a neonate may be weak femoral pulses. Performing a four-limb blood pressure will reveal high blood pressure in the limbs supplied from arteries that come before the narrowing, and lower blood pressure in limbs that come after the narrowing. There may be a systolic murmur heard below the left clavicle (left infraclavicular area) and below the left scapula. Coarctation may have other signs in infancy: Tachypnoea and increased work of breathing Poor feeding Grey and floppy baby Additional signs may develop over time: Left ventricular heave due to left ventricular hypertrophy Underdeveloped left arm where there is a reduced flow to the left subclavian artery Underdevelopment of the legs

Answer 73

In cases of critical coarctation where there is a risk of heart failure and death shortly after birth Prostaglandin E is used to keep the ductus arteriosus open while waiting for surgery. This allows some blood to flow through the ductus arteriosus into the systemic circulation distal to the coarctation. Surgery is then performed to correct the coarctation and to ligate the ductus arteriosus.

Answer 74

congenital condition with four coexisting pathologies: --> VSD --> Overriding aorta --> pulmonary valve stenosis --> right ventricular hypertrophy

Answer 75

--> The VSD allows blood to flow between the ventricles. The term “overriding aorta” refers to the fact that the entrance to the aorta (the aortic valve) is placed further to the right than normal, above the VSD. This means that when the right ventricle contracts and sends blood upwards, the aorta is in the direction of travel of that blood, therefore a greater proportion of deoxygenated blood enters the aorta from the right side of the heart. --> Stenosis of the pulmonary valve provides greater resistance against the flow of blood from the right ventricle. This encourages blood to flow through the VSD and into the aorta rather than taking the normal route into the pulmonary vessels. Therefore, the overriding aorta and pulmonary stenosis encourage blood to be shunted from the right heart to the left, causing cyanosis. --> The increased strain on the muscular wall of the right ventricle, as it attempts to pump blood against the resistance of the left ventricle and pulmonary stenosis, causes right ventricular hypertrophy, with thickening of the heart muscle. --> These cardiac abnormalities cause a right to left cardiac shunt. This means blood bypasses the child’s lungs. Blood bypassing the lungs does not become oxygenated. Deoxygenated blood entering the systemic circulation causes cyanosis. The degree to which this happens is related mostly to the severity of the patients pulmonary stenosis.

Answer 76

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

Answer 77

As with all structural congenital cardiac abnormalities, an echocardiogram is the investigation of choice for establishing the diagnosis. During the echocardiogram, the machine can produce coloured pictures that demonstrate the direction of flow of blood. This is called doppler flow studies. This is useful in assessing the severity of the abnormality and shunt. A chest xray may show the characteristic “boot shaped” heart due to right ventricular thickening. This not particularly useful diagnostically except during medical exams.

Answer 78

Most cases are picked up before the child is born during the antenatal scans. Additionally, an ejection systolic murmur caused by pulmonary stenosis may be heard on the newborn baby check. Severe cases will present with heart failure before one year of age. In milder cases, they can present as older children once they start to develop signs and symptoms of heart failure.

Answer 79

--> Cyanosis (blue discolouration of the skin due to low oxygen saturations) --> Clubbing --> Poor feeding --> Poor weight gain --> Ejection systolic murmur heard loudest in the pulmonary area (second intercostal space, left sternal border) - pulmonary stenosis --> “Tet spells”

Answer 80

--> intermittent symptomatic periods where the right to left shunt becomes temporarily worsened, precipitating a cyanotic episode. --> This happens when the pulmonary vascular resistance increases or the systemic resistance decreases. For example, if the child is physically exerting themselves they are generating a lot of carbon dioxide. Carbon dioxide is a vasodilator that causes systemic vasodilation and therefore reduces systemic vascular resistance. --> Blood flow will choose the path of least resistance, so blood will be pumped from the right ventricle to the aorta rather than the pulmonary vessels, bypassing the lungs. These episodes may be precipitated by waking, physical exertion or crying. The child will become irritable, cyanotic and short of breath. Severe spells can lead to reduced consciousness, seizures and potentially death.

Answer 81

Older children may squat when a tet spell occurs. Younger children can be positioned with their knees to their chests. Squatting increases systemic vascular resistance. This encourages blood to enter the pulmonary vessels. potentially life-threatening. --> 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 82

In neonates, a prostaglandin infusion can be used to maintain the ductus arteriosus. This allows blood to flow from the aorta back to the pulmonary arteries. Total surgical repair by open heart surgery is the definitive treatment, however, mortality from surgery is around 5%.

Answer 83

Transposition of the great arteries is a condition where the attachments of the aorta and the pulmonary trunk to the heart are swapped (“transposed”). This means the right ventricle pumps blood into the aorta and the left ventricle pumps blood into the pulmonary vessels. In this scenario are two separate circulations that don’t mix: one travelling through the systemic system and right side of the heart and the other travelling through the pulmonary system and left side of the heart.

Answer 84

Ventricular septal defect Coarctation of the aorta Pulmonary stenosis

Answer 85

During pregnancy, there is normal development of the fetus. The gas and nutrient exchange happens in the placenta, therefore it is not necessary for blood to flow to the lungs. After birth, the condition is immediately life-threatening as there is no connection between the systemic circulation and the pulmonary circulation. The baby will be cyanosed. Immediate survival depends on a shunt between systemic circulation and pulmonary circulation that allows blood flowing through the body an opportunity to get oxygenated in the lungs. This shunt can occur across a patent ductus arteriosus, atrial septal defect or ventricular septal defect.

Answer 86

The defect is often diagnosed during pregnancy with antenatal ultrasound scans. Close monitoring is necessary during the pregnancy and arrangements should be made so that the woman gives birth in a hospital capable of managing the condition after birth. Where the defect was not detected during pregnancy it will present with cyanosis at or within a few days of birth. A patent ductus arteriosus or ventricular septal defect can initially compensate by allowing blood to mix between the systemic circulation and the lungs, however, within a few weeks of life they will develop respiratory distress, tachycardia, poor feeding, poor weight gain and sweating.

Answer 87

Where there is a ventricular septal defect, this will allow some mixing of blood between the two systems and provide some time for definitive treatment. A prostaglandin infusion can be used to maintain the ductus arteriosus. This allow blood from the aorta to flow to the pulmonary arteries for oxygenation. Balloon septostomy involves inserting a catheter into the foramen ovale via the umbilicus, and inflating a balloon to create a large atrial septal defect. This allows blood returning from the lungs (on the left side) to flow to the right side of the heart and out through the aorta to the body. Open heart surgery is the definitive management. A cardiopulmonary bypass machine is used to perform an “arterial switch” procedure within a few days of birth. If present, a VSD or ASD can be corrected at the same time.

Answer 88

Where there is a ventricular septal defect, this will allow some mixing of blood between the two systems and provide some time for definitive treatment. A prostaglandin infusion can be used to maintain the ductus arteriosus. This allows blood from the aorta to flow to the pulmonary arteries for oxygenation. Balloon septostomy involves inserting a catheter into the foramen ovale via the umbilicus, and inflating a balloon to create a large atrial septal defect. This allows blood returning from the lungs (on the left side) to flow to the right side of the heart and out through the aorta to the body. Open heart surgery is the definitive management. A cardiopulmonary bypass machine is used to perform an “arterial switch” procedure within a few days of birth. If present, a VSD or ASD can be corrected at the same time.

Answer 89

Differential diagnoses of cyanotic lesions using the 6 ‘T’s are: Tetralogy of Fallot Transposition of great arteries Truncus arteriosus Total anomalous pulmonary venous connection Tricuspid valve abnormalities Ton of others – hypoplastic left heart, double outlet right ventricle, pulmonary atresia

Answer 90

Rheumatic fever is a systemic inflammatory disorder. It arises as a complication following infection with group A Streptococcus, but unlike the initial infection, rheumatic fever is not contagious.

Answer 91

between 5-15 years old more girls affected then boys

Answer 92

Rheumatic fever is caused by group A beta-haemolytic streptococcal, typically streptococcus pyogenes causing tonsillitis. The immune system creates antibodies to fight the infection. These antibodies not only target the bacteria, but also match antigens on the cells of the person’s body, for example the muscle cells in the myocardium in the heart. This results in a type 2 hypersensitivity reaction, where the immune system begins attacking cells throughout the body. This process is usually delayed 2 – 4 weeks after the initial infection.

Answer 93

The typical presentation of rheumatic fever occurs 2 – 4 weeks following a streptococcal infection, such as tonsillitis. Symptoms affect multiple systems, causing: --> Fever --> Joint pain --> Rash --> Shortness of breath --> Chorea --> Nodules JOINTS --> migratory arthritis in large joint, hot swollen and painful joints HEART --> Carditis, or inflammation throughout the heart, with pericarditis, myocarditis and endocarditis, leads to --> Tachycardia or bradycardia/Murmurs from valvular heart disease, typically mitral valve disease/ Pericardial rub on auscultation/Heart failure SKIN--> subcutaneous nodules and erythema marginatum rash NERVOUS SYSTEM --> Chorea - key nervous system symptoms - irregular uncontrolled and rapid movements of limbs

Answer 94

Investigations that can help support the diagnosis include: --> Throat swab for bacterial culture --> ASO (antistreptococcal antibodies) antibody titres --> Echocardiogram, ECG and chest x-ray can assess the heart involvement --> A diagnosis of rheumatic fever is made using the Jones criteria.

Answer 95

Jones criteria

Answer 96

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 The mnemonic for the Jones criteria is JONES – FEAR. Major Criteria: J – Joint arthritis O – Organ inflammation, such as carditis N – Nodules E – Erythema marginatum rash S – Sydenham Chorea Minor Criteria: F - fever E - ECG Changes (prolonged PR interval) without carditis A - Arthralgia without arthritis R - Raised inflammatory markers (CRP and ESR)

Answer 97

Treatment of streptococcal infections with antibiotics helps prevent the development of rheumatic fever. Tonsillitis caused by streptococcus should be treated with phenoxymethylpenicillin (penicillin V) for 10 days. Patients with clinical features of rheumatic fever should be referred immediately for specialist management. Management involves medications and follow-up: NSAIDs (e.g. ibuprofen) are helpful for treating 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. Monitoring and management of complications

Answer 98

--> Recurrence of rheumatic fever --> Valvular heart disease, most notably mitral stenosis --> Chronic heart failure

Answer 99

Infective endocarditis refers to infection of the endothelium (the inner surface) of the heart. Most commonly, it affects the heart valves. It can be acute, subacute or chronic, depending on how rapidly and acutely the symptoms present and the causative organism.

Answer 100

The risk factors for infective endocarditis are: --> Intravenous drug use --> Structural heart pathology (see below) --> Chronic kidney disease (particularly on dialysis) --> Immunocompromised (e.g., cancer, HIV or immunosuppressive medications) --> History of infective endocarditis Structural pathology can increase the risk of endocarditis: --> Valvular heart disease --> Congenital heart disease --> Hypertrophic cardiomyopathy --> Prosthetic heart valves --> Implantable cardiac devices (e.g., pacemakers)

Answer 101

The most common cause is Staphylococcus aureus. Other causes include: Streptococcus (notably the viridans group of streptococci) Enterococcus (e.g., Enterococcus faecalis) Rarer causes include Pseudomonas, HACEK organisms and fungi

Answer 102

The presenting symptoms are non-specific for an infection: Fever Fatigue Night sweats Muscle aches Anorexia (loss of appetite) The key examination findings are: New or “changing” heart murmur Splinter haemorrhages (thin red-brown lines along the fingernails) Petechiae (small non-blanching red/brown spots) on the trunk, limbs, oral mucosa or conjunctiva Janeway lesions (painless red flat macules on the palms of the hands and soles of the feet) Osler’s nodes (tender red/purple nodules on the pads of the fingers and toes) Roth spots (haemorrhages on the retina seen during fundoscopy) Splenomegaly (in longstanding disease) Finger clubbing (in longstanding disease)

Answer 103

Blood cultures are essential before starting antibiotics. Three blood culture samples are recommended, usually separated by at least 6 hours and taken from different sites. The gap between repeated sets may have to be shorter if antibiotics are required more urgently (e.g., sepsis). Echocardiography is the usual imaging investigation. Transoesophageal echocardiography (TOE) is more sensitive and specific than transthoracic echocardiography. Vegetations (an abnormal mass or collection) may be seen on the valves. Special imaging investigations may be used in patients with prosthetic heart valves, where it can be more challenging to determine whether an infection is present in the prosthesis: 18F-FDG PET/CT - SPECT-CT modified Dukes criteria

Answer 104

Modified Dukes criteria

Answer 105

The Modified Duke criteria can be used to diagnose infective endocarditis. A diagnosis requires either: One major plus three minor criteria Five minor criteria Major criteria are: Persistently positive blood cultures (typical bacteria on multiple cultures) Specific imaging findings (e.g., a vegetation seen on the echocardiogram) Minor criteria are: Predisposition (e.g., IV drug use or heart valve pathology) Fever above 38°C Vascular phenomena (e.g., splenic infarction, intracranial haemorrhage and Janeway lesions) Immunological phenomena (e.g., Osler’s nodes, Roth spots and glomerulonephritis) Microbiological phenomena (e.g., positive cultures not qualifying as a major criterion)

Answer 106

The Modified Duke criteria can be used to diagnose infective endocarditis. A diagnosis requires either: One major plus three minor criteria Five minor criteria Major criteria are: Persistently positive blood cultures (typical bacteria on multiple cultures) Specific imaging findings (e.g., a vegetation seen on the echocardiogram) Minor criteria are: Predisposition (e.g., IV drug use or heart valve pathology) Fever above 38°C Vascular phenomena (e.g., splenic infarction, intracranial haemorrhage and Janeway lesions) Immunological phenomena (e.g., Osler’s nodes, Roth spots and glomerulonephritis) Microbiological phenomena (e.g., positive cultures not qualifying as a major criterion)

Answer 107

Intravenous broad-spectrum antibiotics (e.g., amoxicillin and optional gentamicin) are the mainstay of treatment. The choice of antibiotic may be more specific once the causative organism is identified on cultures. Antibiotics are typically continued for at least: 4 weeks for with native heart valves 6 weeks for patients with prosthetic heart valves Surgery may be required for: Heart failure relating to valve pathology Large vegetation or abscesses Infections not responding to antibiotics

Answer 108

Heart valve damage, causing regurgitation Heart failure Infective and non-infective emboli (causing abscesses, strokes and splenic infarction) Glomerulonephritis, causing renal impairment

Answer 109

good oral health to reduce the risk of IE, streptococcus viridans

Answer 110

Gastro-oesophageal reflux is where contents from the stomach reflux through the lower oesophageal sphincter into the oesophagus, throat and mouth

Answer 111

In babies there is immaturity of the lower oesophageal sphincter, allowing stomach contents to easily reflux into the oesophagus. It is normal for a baby to reflux feeds, and provided there is normal growth and the baby is otherwise well this is not a problem, however, it can be upsetting for parents.

Answer 112

It is normal for babies to have some reflux after larger feeds. It becomes more troublesome when this causes them to become distressed. Signs of problematic reflux include: Chronic cough Hoarse cry Distress, crying or unsettled after feeding Reluctance to feed Pneumonia Poor weight gain Children over one year may experience similar symptoms to adults, with heartburn, acid regurgitation, retrosternal or epigastric pain, bloating and nocturnal cough

Answer 113

Vomiting is very non-specific and is often not indicative of underlying pathology. Some of the possible causes of vomiting include: --> Overfeeding --> Gastro-oesophageal reflux --> Pyloric stenosis (projective vomiting) --> Gastritis or gastroenteritis --> Appendicitis --> Infections such as UTI, tonsillitis or meningitis --> Intestinal obstruction --> Bulimia

Answer 114

--> Not keeping down any feed (pyloric stenosis or intestinal obstruction) --> Projectile or forceful vomiting (pyloric stenosis or intestinal obstruction) --> Bile-stained vomit (intestinal obstruction) --> Haematemesis or melaena (peptic ulcer, oesophagitis or varices) --> Abdominal distention (intestinal obstruction) --> Reduced consciousness, bulging fontanelle or neurological signs (meningitis or raised intracranial pressure) --> Respiratory symptoms (aspiration and infection) --> Blood in the stools (gastroenteritis or cows milk protein allergy) --> Signs of infection (pneumonia, UTI, tonsillitis, otitis or meningitis) --> Rash, angioedema and other signs of allergy (cows milk protein allergy) --> Apnoeas are a concerning feature and may indicate serious underlying pathology and need urgent assessment

Answer 115

In simple cases, some explanation, reassurance and practical advice is all that is needed. Advise: Small, frequent meals Burping regularly to help milk settle Not over-feeding Keep the baby upright after feeding (i.e. not lying flat) More problematic cases can justify treatment with Gaviscon mixed with feeds Thickened milk or formula (specific anti-reflux formulas are available) Proton pump inhibitors (e.g., omeprazole) where other methods are inadequate Rarely in severe cases, they may need further investigation with a barium meal and endoscopy. Surgical fundoplication can be considered in very severe cases, however this is very rarely required or performed.

Answer 116

The pyloric sphincter is a ring of smooth muscle that forms the canal between the stomach and the duodenum. Hypertrophy (thickening) and therefore narrowing of the pylorus is called pyloric stenosis. This prevents food from travelling from the stomach to the duodenum as normal. After feeding, there is increasingly powerful peristalsis in the stomach as it tries to push food into the duodenum. Eventually, it becomes so powerful that it ejects the food into the oesophagus, out of the mouth and across the room. This is called “projectile vomiting”.

Answer 117

Pyloric stenosis typically presents in the first few weeks of life, with a hungry baby that is thin, pale and generally failing to thrive. The classic description of vomiting you should remember for your exams is “projectile vomiting”. If examined after feeding, often the peristalsis can be seen by observing the abdomen. A firm, round mass can be felt in the upper abdomen that “feels like a large olive”. This is caused by the hypertrophic muscle of the pylorus. Blood gas analysis will show a hypochloric (low chloride) metabolic alkalosis as the baby is vomiting the hydrochloric acid from the stomach. This is a common data interpretation question in exams, so worth remembering.

Answer 118

--> diagnosis is made using an abdominal ultrasound to visualise the thickened pylorus

Answer 119

Treatment involves a laparoscopic pyloromyotomy (known as “Ramstedt’s operation“). An incision is made in the smooth muscle of the pylorus to widen the canal allowing that food to pass from the stomach to the duodenum as normal. Prognosis is excellent following the operation.

Answer 120

--> idiopathic constipation or functional constipation

Answer 121

--> Hirschsprung's disease, CF (meconium ileus), hypothyroidism, spinal cord lesions, sexual abuse, intestinal obstruction, anal stenosis and cows milk intolerance

Answer 122

Typical features in the history and examination that suggest constipation are: Less than 3 stools a week Hard stools that are difficult to pass Rabbit dropping stools Straining and painful passages of stools Abdominal pain Holding an abnormal posture, referred to as retentive posturing Rectal bleeding associated with hard stools Faecal impaction causing overflow soiling, with incontinence of particularly loose smelly stools Hard stools may be palpable in abdomen Loss of the sensation of the need to open the bowels

Answer 123

Encopresis is the term for faecal incontinence. This is not considered pathological until 4 years of age. It is usually a sign of chronic constipation where the rectum becomes stretched and loses sensation. Large hard stools remain in the rectum and only loose stools are able to bypass the blockage and leak out, causing soiling.

Answer 124

Habitually not opening the bowels Low fibre diet Poor fluid intake and dehydration Sedentary lifestyle Psychosocial problems such as a difficult home or school environment (always keep safeguarding in mind)

Answer 125

Often patients develop a habit of not opening their bowels when they need to and ignoring the sensation of a full rectum. Over time they loose the sensation of needing to open their bowels, and they open their bowels even less frequently. They start to retain faeces in their rectum. This leads to faecal impaction, which is where a large, hard stool blocks the rectum. Over time the rectum stretches as it fills with more and more faeces. This leads to further desensitisation of the rectum. The longer this goes on, the more difficult it is to treat the constipation and reverse the problem.

Answer 126

--> Not passing meconium - within 48 hours of birth (cystic fibrosis or Hirschprungs disease) --> neurological signs or symptoms - particularly in the lower limbs (cerebral palsy or spinal cord lesion) --> vomiting - intestinal obstruction or Hirschprungs disease) --> Ribbon stool (anal stenosis) --> abnormal anus (anal stenosis/ IBD or sexual abuse) --> abnormal lower back or buttocks (spina, bifida, spinal cord lesion or sacral agenesis) --> failure to thrive (coeliac disease, hypothyroidism or safeguarding) --> acute severe abdominal pain and bloating (obstruction or intussusception)

Answer 127

Pain reduced sensation anal fissures haemorrhoids overflow and soiling psychosocial morbidity

Answer 128

--> Correct any reversible contributing factors, recommend a high-fibre diet and good hydration -->Start laxatives (movicol is first line) --> Faecal impaction may require a disimpaction regimen with high doses of laxatives at first --> Encourage and praise visiting the toilet. This could involve scheduling visits, a bowel diary and star charts. --> Laxatives should be continued long term and slowly weaned off as the child develops a normal, regular bowel habit.

Answer 129

--> Inflammation of the appendix --> due to obstruction at the point where the appendix meets the bowel from caecum --> can quickly progress into gangrene and rupture --> can release faecal contents and infective material into the abdomen which leads to peritonitis - inflammation of the peritoneal contents --> peak incidence of appendicitis is between 10 and 20

Answer 130

--> Central abdominal pain that moves down to the right iliac fossa --> on palpation of abdomen there is tenderness in McBurney's point - one-third of the distance from the ASIS to the umbilicus --> Loss of appetite --> Nausea and vomiting --> Rosvings sign - palpation of the left iliac fossa causes pain in the RIF --> Guarding on abdominal palpation --> Rebound tenderness - increased pain when quickly releasing pressure on the right iliac fossa --> Percussion tenderness is pain and tenderness when percussing the abdomen REBOUND TENDERNESS AND PERCUSSION TENDERNESS SUGGESTS PERITONITIS, CAUSED BY A RUPTURED APPENDIX

Answer 131

--> Based on the clinical presentation and raised inflammatory markers --> CT scan can be useful if the diagnosis is not clear and an ultrasound for women to exclude ovarian and gynae pathology --> if clinical presentation suggests appendicitis but investigations are negative then perform diagnostic laparoscopy to visualise appendix and perform appendicectomy if required

Answer 132

Ectopic Pregnancy Consider ectopic pregnancy in girls of childbearing age. This is a gynaecological emergency with relatively high mortality if mismanaged. A serum or urine bHCG (pregnancy test) to exclude pregnancy is essential in adolescent girls. Ovarian Cysts Ovarian cysts can cause pelvic and iliac fossa pain, particularly with rupture or torsion. Meckel’s Diverticulum Meckel’s diverticulum is a malformation of the distal ileum that occurs in around 2% of the population. It is usually asymptomatic, however it can bleed, become inflamed, rupture or cause a volvulus or intussusception. They are often removed prophylactically if identified incidentally during other abdominal operations. Mesenteric Adenitis Mesenteric adenitis describes inflamed abdominal lymph nodes. This presents with abdominal pain, usually in younger children. This is often associated with tonsillitis or an upper respiratory tract infection. No specific treatment is required. Appendix Mass An appendix mass occurs when the omentum surrounds and sticks to the inflamed appendix, forming a mass in the right iliac fossa. This is typically managed conservatively with supportive treatment and antibiotics, followed by appendicectomy once the acute condition has resolved.

Answer 133

--> removal of the inflamed appendix (appendicectomy) - laparoscopic surgery is associated with fewer risk and faster recovery (laparotomy)

Answer 134

Bleeding, infection, pain and scars Damage to the bowel, bladder or other organs Removal of a normal appendix Anaesthetic risks Venous thromboembolism (deep vein thrombosis or pulmonary embolism)

Answer 135

Ulcerative colitis Chrons disease both involve inflammation of the walls in the GI tract and have periods of remission and exacerbations

Answer 136

Crohn’s (crows NESTS) N – No blood or mucus (these are less common in Crohn's.) E – Entire GI tract S – “Skip lesions” on endoscopy T – Terminal ileum most affected and Transmural (full thickness) inflammation S – Smoking is a risk factor (don’t set the nest on fire) Crohn’s is also associated with weight loss, strictures and fistulas.

Answer 137

C – Continuous inflammation L – Limited to colon and rectum O – Only superficial mucosa affected S – Smoking is protective E – Excrete blood and mucus U – Use aminosalicylates P – Primary sclerosing cholangitis

Answer 138

Suspect inflammatory bowel disease in children and teenagers presenting with perfuse diarrhoea, abdominal pain, bleeding, weight loss or anaemia. They may be systemically unwell during flares, with fevers, malaise and dehydration

Answer 139

Finger clubbing Erythema nodosum Pyoderma gangrenosum Episcleritis and iritis Inflammatory arthritis Primary sclerosing cholangitis (ulcerative colitis)

Answer 140

Blood tests for anaemia, infection, thyroid, kidney and liver function. A raised CRP indicates active inflammation. Faecal calprotectin is released by the intestines when inflamed. It is a useful screening test and is more than 90% sensitive and specific for IBD in adults. Endoscopy (OGD and colonoscopy) with biopsy is the gold standard investigation for diagnosis of IBD. Imaging with ultrasound, CT and MRI can be used to look for complications such as fistulas, abscesses and strictures

Answer 141

Inducing Remission First line are steroids (e.g. oral prednisolone or IV hydrocortisone). If steroids alone don’t work, consider adding immunosuppressant medication under specialist guidance: Azathioprine Mercaptopurine Methotrexate Infliximab Adalimumab Maintaining Remission Treatment is tailored to individual patients based on risks, side effects, nature of the disease and patient preference. It is reasonable not to take any medications whilst well. First line: Azathioprine Mercaptopurine Alternatives: Methotrexate Infliximab Adalimumab When the disease only affects the distal ileum it is possible to surgically resect this area to prevent further flares. Crohn’s typically involves the entire GI tract. Surgery can also be used to treat strictures and fistulas secondary to Crohn’s disease.

Answer 142

Inducing Remission Mild to moderate disease First line: aminosalicylate (e.g. mesalazine oral or rectal) Second line: corticosteroids (e.g. prednisolone) Severe disease First line: IV corticosteroids (e.g. hydrocortisone) Second line: IV ciclosporin Maintaining Remission Aminosalicylate (e.g. mesalazine oral or rectal) Azathioprine Mercaptopurine Surgery Ulcerative colitis usually only affects the colon and rectum. Therefore, removing the colon and rectum (panproctocolectomy) will remove the disease. The patient is then left with either a permanent ileostomy or something called an ileo-anal anastomosis (J-pouch). This is where the ileum is folded back on itself and fashioned into a larger pouch that functions like a rectum. This “J-pouch” is then attached to the anus and collects stools prior to the person passing a motion.

Answer 143

Coeliac disease is an autoimmune condition where exposure to gluten causes an immune reaction that creates inflammation in the small intestine. It usually develops in early childhood but can start at any age. In coeliac disease, autoantibodies are created in response to exposure to gluten. These autoantibodies target the epithelial cells of the intestine and lead to inflammation. There are two antibodies to remember: anti-tissue transglutaminase (anti-TTG) and anti-endomysial (anti-EMA). These antibodies correlate with disease activity and will rise with more active disease and may disappear with effective treatment. Inflammation affects the small bowel, particularly the jejunum. It causes atrophy of the intestinal villi. The intestinal cells have villi on them that help with absorbing nutrients from the food passing through the intestine. The inflammation causes malabsorption of nutrients and disease-related symptoms.

Answer 144

Coeliac disease is often asymptomatic, so have a low threshold for testing for coeliac disease in patients where it is suspected. Symptoms can include: --> Failure to thrive in young children --> Diarrhoea --> Fatigue --> Weight loss --> Mouth ulcers --> Anaemia secondary to iron, B12 or folate deficiency --> Dermatitis herpetiformis is an itchy blistering skin rash that typically appears on the abdomen Rarely coeliac disease can present with neurological symptoms: --> Peripheral neuropathy --> Cerebellar ataxia --> Epilepsy

Answer 145

Coeliac disease as they are often linked

Answer 146

HLA-DQ2 gene (90%) HLA-DQ8 gene

Answer 147

Investigations must be carried out whilst the patient remains on a diet containing gluten otherwise it may not be possible to detect the antibodies or inflammation in the bowel. Check total immunoglobulin A levels to exclude IgA deficiency before checking for coeliac disease-specific antibodies: Raised anti-TTG antibodies (first choice) Raised anti-endomysial antibodies - anti EMA Endoscopy and intestinal biopsy show: “Crypt hypertrophy” “Villous atrophy”

Answer 148

Type 1 diabetes Thyroid disease Autoimmune hepatitis Primary biliary cirrhosis Primary sclerosing cholangitis Down’s syndrome

Answer 149

Vitamin deficiency Anaemia Osteoporosis Ulcerative jejunitis Enteropathy-associated T-cell lymphoma (EATL) of the intestine Non-Hodgkin lymphoma (NHL) Small bowel adenocarcinoma (rare)

Answer 150

A lifelong gluten-free diet is essentially curative. Relapse will occur upon consuming gluten again. Checking coeliac antibodies can be helpful in monitoring the disease.

Answer 151

--> Congenital condition where the nerve cells of the myenteric plexus are absent in the distant bowel and rectum --> Myenteric plexus (Auerbach's plexus) forms the enteric nervous which is responsible for peristalsis

Answer 152

Part of the enteric nervous system and is responsible fo peristalsis of the large bowel

Answer 153

--> absence of the parasympathetic ganglion cells --> During fetal development these cells start higher in the GI tract and migrate down to the distal colon and rectum --> Parasympathetic ganglion cells in the myenteric plexus do not migrate all the way down --> When the total colon is affected it's called total colonic aganglionosis. The aganglionic section of the colon does not relax and causes contraction and obstruction

Answer 154

Family history downs syndrome

Answer 155

Downs syndrome Neurofibromatosis Waardenburg syndrome (a genetic condition causing pale blue eyes, hearing loss and patches of white skin and hair) Multiple endocrine neoplasia type II

Answer 156

The severity of the presentation and the age at diagnosis varies significantly depending on the individual and the extent of the bowel that is affected. It can present with acute intestinal obstruction shortly after birth or more gradually developing symptoms: Delay in passing meconium (more than 24 hours) Chronic constipation since birth Abdominal pain and distention Vomiting Poor weight gain and failure to thrive

Answer 157

---> Inflammation and obstruction of the intestine occurring in 20% of neonates with Hirschsprung's disease --> presents within 2-4 weeks with fever, abdominal distention, diarrhoea often with blood and features of sepsis --> life-threatening and can lead to toxic megacolon and perforation of the bowel --> requires urgent antibiotics, fluid resuscitation and decompression of the obstructed bowel

Answer 158

--> Abdominal X-ray can be helpful in diagnoses of intestinal obstruction --> Rectal biopsy - used to confirm the diagnosis, bowel histology will demonstrate an absence of ganglionic cells --> Unwell children with HAEC will require initial fluid resus and management of intestinal obstruction. IV abx are required with HAEC --> Definite management is the surgical removal of the aganglionic section of the bowel

Answer 159

--> Condition where the bowel invaginates into itself, this thickens the overall size of the bowel and narrows the lumen at the folded area --> leads to a palpable mass in the abdomen and obstruction to the passage of faeces through the bowel

Answer 160

infants between 6 months and 2 years and is more common in boys

Answer 161

Concurrent viral illness Henoch-Schonlein purpura Cystic fibrosis Intestinal polyps Meckel diverticulum

Answer 162

Severe, colicky abdominal pain Pale, lethargic and unwell child “Redcurrant jelly stool” Right upper quadrant mass on palpation. This is described as “sausage-shaped” Vomiting Intestinal obstruction

Answer 163

--> USS or contrast enema

Answer 164

Therapeutic enemas can be used to try to reduce the intussusception. Contrast, water or air are pumped into the colon to force the folded bowel out of the bowel and into the normal position. Surgical reduction may be necessary if enemas do not work. If the bowel becomes gangrenous (due to a disruption of the blood supply) or the bowel is perforated, then surgical resection is required.

Answer 165

Obstruction Gangrenous bowel Perforation Death

Answer 166

--> Congenital condition in which a section of the bile duct is either narrowed or absent.

Answer 167

--> Absent or narrowed bile duct results in cholestasis --> Bile cannot be transported from the liver to the bowel --> Conjugated bilirubin is excreted in the bile so prevents excretion

Answer 168

--> presents after birth with significant jaundice due to high conjugated bilirubin levels. --> Persistent jaundice lasting more than 14 days in term babies and more than 21 days in premature babies --> Jaundice associated with pale stools and dark urine due to biliary obstruction --> some infants may develop bruising due to Vit K deficiency

Answer 169

--> investigate the levels of conjugated and unconjugated bilirubin - LFT's and raised GGT --> a high proportion of conjugated bilirubin suggests that the liver is processing the bilirubin for excretion bi conjugating it but is not able to excrete it. --> New-born blood spot test - to rule of CF --> USS first line imaging --> percutaneous liver biopsy - diagnostic --> gold standard operative cholangiography - only if diagnosis uncertainty

Answer 170

breast milk jaundice

Answer 171

- early surgical treatment - within 45 days to avoid liver transplantation - kasai portoenterostomy - removing damaged bile ducts and replacing them with a loop of intestine to allow bile to follow into the bowel - liver transplant may be required if portoenterostomy fails - antibiotic prophylaxis for a year to prevent cholangitis

Answer 172

- ascending cholangitis - portal hypertension - cirrhosis which can lead to HCC

Answer 173

Inflammation of the stomach

Answer 174

nausea and vomiting

Answer 175

inflammation of the intetines

Answer 176

inflammation all the way from the stomach to the intestines and presents with nausea, vomiting and diarrhoea

Answer 177

Viral cause (Rotavirus/norovirus)

Answer 178

Establishing if they can keep themselves hydrated - dehydration. could need admission for IV fluids.

Answer 179

Infection (gastroenteritis) Inflammatory bowel disease Lactose intolerance Coeliac disease Cystic fibrosis - steatorrhoea - problem digesting fats - pancreatic insufficiency Toddler’s diarrhoea Irritable bowel syndrome Medications (e.g. antibiotics)

Answer 180

- rotavirus - norovirus

Answer 181

--> E.Coli --> Campylobacter jejuni --> Shigella --> Salmonella --> Bacillus Cereus --> Yersinia enterocoliticia --> staphylococcus Aereus toxin --> Giardiasis

Answer 182

Increases the risk of the haemolytic uraemic syndrome

Answer 183

E.coli prodcues the shiga toxin Causes abdominal cramps, bloody diarrhoea and vomiting.

Answer 184

Campylobacter jejuni

Answer 185

--> Raw or improperly cooked diarrhoea --> untreated water --> unpasteurised milk

Answer 186

Abdominal cramps Diarrhoea often with blood Vomiting Fever

Answer 187

Azithromycin ciprofloxacin

Answer 188

eating raw eggs or poultry, or food contaminated with the infected faeces of small animals

Answer 189

watery diarrhoea that can be associated with mucus or blood, abdominal pain and vomiting

Answer 190

enterotoxins - causes small intestine inflammation and causes diarrhoea, perfuse vomiting and abdominal cramps and fever

Answer 191

Type of microscopic parasite lives in the small intestine of mammals release cysts in the stool of infected animals faecal-oral transmission can cause chronic diarrhoea

Answer 192

metronidazole

Answer 193

--> Patients should be isolated and rigorous infection control measures --> Stool sample tested for microscopy, culture and sensitivity --> Maintain hydration, fluid challenge orally or IV fluids --> Antidiarrhoeal medication is generally not recommended --> Abx should only be given to high risk patients once the causative organism has been identified

Answer 194

Lactose intolerance Irritable bowel syndrome Reactive arthritis Guillain–Barré syndrome

Answer 195

--> Patients should be isolated and rigorous infection control measures --> Stool sample tested for microscopy, culture and sensitivity --> Maintain hydration, fluid challenge orally or IV fluids --> Antidiarrhoeal medication is generally not recommended --> Abx should only be given to high-risk patients once the causative organism has been identified

Answer 196

--> Patients should be isolated and rigorous infection control measures --> Stool sample tested for microscopy, culture and sensitivity --> Maintain hydration, fluid challenge orally or IV fluids --> Antidiarrhoeal medication is generally not recommended --> Abx should only be given to high-risk patients once the causative organism has been identified

Answer 197

--> poor physical growth and development in a child

Answer 198

One or more centile spaces if their birthweight was below the 9th centile Two or more centile spaces if their birthweight was between the 9th and 91st centile Three or more centile spaces if their birthweight was above the 91st centile

Answer 199

Inadequate nutritional intake Difficulty feeding Malabsorption Increased energy requirements Inability to process nutrition

Answer 200

Maternal malabsorption if breastfeeding Iron deficiency anaemia Family or parental problems Neglect Availability of food (i.e. poverty)

Answer 201

Poor suck, for example, due to cerebral palsy Cleft lip or palate Genetic conditions with an abnormal facial structure Pyloric stenosis

Answer 202

Cystic fibrosis Coeliac disease Cows milk intolerance Chronic diarrhoea Inflammatory bowel disease

Answer 203

Hyperthyroidism Chronic disease, for example congenital heart disease and cystic fibrosis Malignancy Chronic infections, for example HIV or immunodeficiency

Answer 204

Inborn errors of metabolism Type 1 diabetes

Answer 205

Pregnancy, birth, developmental and social history Feeding or eating history Observe feeding Mum's physical and mental health Parent-child interactions Height, weight and BMI (if older than 2 years) and plotting these on a growth chart Calculate the mid-parental height centile Outcomes from the assessment that would suggest inadequate nutrition or a growth disorder are: Height more than 2 centile spaces below the mid-parental height centile BMI below the 2nd centile

Answer 206

Urine dipstick, for urinary tract infection Coeliac screen (anti-TTG or anti-EMA antibodies) Further investigations are usually not necessary where there are no other clinical concerns. Focused investigations should be considered where additional signs or symptoms suggest an underlying diagnosis, such as cystic fibrosis or pyloric stenosis.

Answer 207

Management depends on the cause and may involve input from the multidisciplinary team. All children with faltering growth should have regular reviews to monitor weight gain. Where difficulty with breastfeeding is the cause, there are lots of ways for the mother to get support, including midwives, health visitors, peers groups and “lactation consultants”. Supplementing with formula milk is likely to successfully improve growth, however it often results in breastfeeding stopping. Mother should be encouraged to feed with breastmilk prior to top-up feeds, and express when not breastfeeding to encourage lactation to continue. Where inadequate nutrition is the cause there are several management options based on individual circumstances: Encouraging regular structured mealtimes and snacks Reduce milk consumption to improve appetite for other foods Review by a dietician Additional energy-dense foods to boost calories Nutritional supplements drinks Where other measures fail and there are serious concerns the multidisciplinary team may consider enteral tube feeding. This needs to have clear goals and a defined endpoint.

Answer 208

--> abnormal pouch on the antimesenteric side of the ileum --> true diverticulum - contains all three layers of the intestinal wall --> in early fetal life nutrients are received from the yolk sac into the ileum via the omphalomesenteric duct until it obliterates (weeks 5-6 pregnancy) - if it olbiterates improperly meckles diverticulum develops --> can contain ectopic epithelia (pancreatic or gastric)

Answer 209

Ulcers from HCI secretion if gastric mucosa is present, perforation can occur, food impaction, lithiasis, peritonitis, peritoneal adhesions, intussusception, volvulus and neoplasms

Answer 210

usually asymptomatic abdominal pain/distention, melena, vomting and constipation

Answer 211

Incidental finding on abdominal ultrasound or CT Meckles scan and can be found on surgery

Answer 212

Surgical resection

Answer 213

Condition that affects infants and young children under 3 years old - hypersensitivity to proteins in cows milk

Answer 214

If IgE mediated then there is a rapid reaction to cows' milk protein If non-IgE mediated then the reaction happens slowly over the course of several days Different to lactose intolerance as they don't have an allergy to lactose as its a sugar not a protein Not an allergic process and doesn't involve the immune system

Answer 215

More common in formula fed babies those with a history of other atopic conditions

Answer 216

--> Normally presents before 1 year of age --> may be apparent when weaned of breast milk --> can present in breastfed babies when the mother is consuming dairy products GI Sx - Bloating and wind, Abdo pain, diarrhoea and vomiting General allergic symptoms - hives, facial swelling, cough or wheeze, sneezing, watery eyes and eczema In severe cases anaphylaxis can occur

Answer 217

--> Breastfeeding mothers should avoid dairy products --> Replace formula with special hydrolysed formula designed for Cow's milk allergy --> severe cases infants may require elemental formulas made up of basic amino acids --> Most children outgrow cow's milk protein allergy by the age of 3 often earlier

Answer 218

--> based of history and examination --> Skin prick testing can help support the diagnosis --> avoiding cow's milk should fully resolve the symptoms

Answer 219

The diagnosis is made based on a full history and examination. Skin prick testing can help support the diagnosis but is not always necessary. Avoiding cow’s milk should fully resolve symptoms

Answer 220

Presents with the same GI symptoms, but does not give allergic features - rash, angioedema, sneezing and coughing

Answer 221

When red blood cells break down they release unconjugated bilirubin into the blood Unconjugated bilirubin is conjugated in the liver so it can be excreted can be excreted through the GI tract via the biliary system or through the urine

Answer 222

--> High concentration of red blood cells in the fetus and neonate --> red blood cells are more fragile and have a less developed liver function --> Featal red blood cells break down more rapidly than normal red blood cells, releasing lots of bilirubin --> Can cause jaundice 2-7 days of age, usually reoslves by 10 days

Answer 223

Increased production of bilirubin --> 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 224

When its presents in the first 24 hours of life - urgent investigations and management needed

Answer 225

Neonatal sepsis

Answer 226

--> immature liver

Answer 227

Kernicterus - brain damage due to the high bilirubin levels

Answer 228

--> Components of breast milk inhibit the ability of the liver to process bilirubin --> Breastfed babies are more likely to become dehydrated if not feeding adequately --> Inadequate breastfeeding may lead to slow passage of stools increasing absorption of bilirubin in the intestines --> benefits of breastfeeding outweigh the risks

Answer 229

Haemolytic disease of the new born

Answer 230

incompatibility between the rhesus D antigens on the surface of RBC of the mother and fetus

Answer 231

Mum rhesus D negative becomes pregnant, we have to consider the possibility that her child will be rhesus D positive. It is likely at some point in the pregnancy the blood from the baby will find a way into her bloodstream. When this happens, the baby’s red blood cells display the rhesus D antigen. The mother’s immune system will recognise this rhesus D antigen as foreign and produce antibodies to the rhesus D antigen. The mother has then become sensitised to rhesus D antigens. Usually, this sensitisation process does not cause problems during the first pregnancy (unless the sensitisation happens early on, such as during antepartum haemorrhage). During subsequent pregnancies, the mother’s anti-D antibodies can cross the placenta into the fetus. If that fetus is rhesus positive, these antibodies attach themselves to the red blood cells of the fetus and cause the immune system of the fetus to attack its own red blood cells. This leads to haemolysis, causing anaemia and high bilirubin levels. This leads to a condition called haemolytic disease of the newborn.

Answer 232

More than 14 days in full-term babies More than 21 days in premature babies

Answer 233

-->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, particularly for hypothyroid --> Blood and urine cultures if infection is suspected. Suspected sepsis needs treatment with antibiotics. --> Glucose-6-phosphate-dehydrogenase (G6PD) levels for G6PD deficiency

Answer 234

In jaundiced neonates, total bilirubin levels are monitored and plotted on treatment threshold charts. These charts are specific for the gestational age of the baby at birth. The age of the baby is plotted on the x-axis and the total bilirubin level on the y-axis. If the total bilirubin reaches the threshold on the chart, they need to be commenced on treatment to lower their bilirubin level. --> Phototherapy (blue light) is usually adequate --> may require exchange transfusion

Answer 235

--> brain damage caused by excessive bilirubin levels

Answer 236

--> Bilirubin crosses the blood brain barrier --> direct damage to the central nervous system --> damage to the central nervous system is permanent - causing cerebral palsy, LD and deafness

Answer 237

less responsive, floppy, drowsy baby, poor feeding

Answer 238

--> Constipation is also very common --> Urinary tract infection --> Coeliac disease --> Inflammatory bowel disease --> Irritable bowel syndrome --> Mesenteric adenitis --> Abdominal migraine --. Pyelonephritis --> Henoch-Schonlein purpura --> Tonsilitis --> Diabetic ketoacidosis --> Infantile colic There are addition causes in adolescent girls: Dysmenorrhea (period pain) Mittelschmerz (ovulation pain) Ectopic pregnancy Pelvic inflammatory disease Ovarian torsion Pregnancy

Answer 239

--> Appendicitis causes central abdominal pain spreading to the right iliac fossa --> Intussusception causes colicky non-specific abdominal pain with redcurrant jelly stools --> Bowel obstruction causes pain, distention, absolute constipation and vomiting ---> Testicular torsion causes sudden onset, unilateral testicular pain, nausea and vomiting

Answer 240

-->Persistent or bilious vomiting --> Severe chronic diarrhoea --> Fever --> Rectal bleeding --> Weight loss or faltering growth --> Dysphagia (difficulty swallowing) --> Nighttime pain --> Abdominal tenderness

Answer 241

--> Anaemia can indicate inflammatory bowel disease or coeliac disease --> Raised inflammatory markers (ESR and CRP) can indicate inflammatory bowel disease --> Raised anti-TTG or anti-EMA antibodies indicate coeliac disease --> Raised faecal calprotectin indicates inflammatory bowel disease --> A positive urine dipstick indicates a urinary tract infection

Answer 242

self-limiting condition seen in infants less than 3 months old and is characterised by bouts of excessive crying and pulling up of the legs, often worse in the evening with no obvious cause

Answer 243

Infection that affects the tissue of the kidney and can lead to scarring of the tissue and a reduction in kidney function - ascending bacterial infection - also known as complicated UTI

Answer 244

Inflammation of the bladder

Answer 245

--> Could only be a fever BABIES - present non specifically - fever - lethargy - irritability - vomiting - poor feeding - urinary frequency OLDER INFANTS/CHILDREN - fever - abdo pain - suprapubic - vomiting - dysuria - urinary frequency - incontinence

Answer 246

A temperature greater than 38°C Loin pain or tenderness

Answer 247

clean catch sample

Answer 248

Nitrites – gram-negative bacteria (such as E. coli) break down nitrates, a normal waste product in urine, into nitrites. The presence of nitrites suggest bacteria in the urine. Leukocytes – leukocytes are white blood cells. There are normally a small number of leukocytes in the urine, however a significant rise can be the result of an infection or another cause of inflammation. A urine dipstick tests for leukocyte esterase, a product of leukocytes that give an indication about the number of leukocytes in the urine. Nitrites are a better indication of infection than leukocytes. If both are present the patient should be treated as a UTI. If only nitrites are present it is worth treating as a UTI. If only leukocytes are present the patient should not be treated as a UTI unless there is clinical evidence they have one.

Answer 249

Urine dipstick Send a midstream urine (MSU) sample to the microbiology lab to be cultured and have sensitivity testing.

Answer 250

All children under 3 months with a fever should start immediate IV antibiotics (e.g. ceftriaxone) and have a full septic screen, including blood cultures, bloods and lactate. A lumbar puncture should also be considered. Oral antibiotics can be considered in children over 3 months if they are otherwise well. Children with features of sepsis or pyelonephritis will require inpatient treatment with IV antibiotics. Always follow local guidelines. Typical antibiotic choices in urinary tract infections in children are: Trimethoprim Nitrofurantoin Cefalexin Amoxicillin

Answer 251

--> need to investigate for underlying causes and renal damage Ultrasound Scans All children under 6 months with their first UTI should have an abdominal ultrasound within 6 weeks, or during the illness if there are recurrent UTIs or atypical bacteria Children with recurrent UTIs have an abdominal ultrasound within 6 weeks Children with atypical UTIs should have an abdominal ultrasound during the illness DMSA scans - kidney damage/scaring Vesico-Ureteric reflux - urine flows from the bladder back into the ureters - predisposes patients to UTI - MCUG - micturating cystourethrogram

Answer 252

nocturnal enuresis - unable to control bladder at night Diurnal enuresis - unable to control the bladder function during the day

Answer 253

Primary nocturnal enuresis - The child has never managed to be consistently dry Secondary nocturnal enuresis - Child begins to wet themselves when they have previously been dry for at least 6 months

Answer 254

--> variation of normal development especially if the child is less than 5 years old - most common --> Overactive bladder. Frequent small-volume urination prevents the development of bladder capacity. --> Fluid intake prior to bedtime, particularly fizzy drinks, juice and caffeine, which can have a diuretic effect --> Failure to wake due to particularly deep sleep and underdeveloped bladder signals --> Psychological distress, for example, low self-esteem, too much pressure or stress at home or school --> Secondary causes such as chronic constipation, urinary tract infection, learning disability or cerebral palsy

Answer 255

--> Reassure parents of children under 5 years that it is likely to resolve without any treatment --> Lifestyle changes: reduced fluid intake in the evenings, pass urine before bed and ensure easy access to a toilet --> encouragement and positive reinforcement. Avoid blame or shame. Punishment should very much be avoided. --> Treat any underlying causes or exacerbating factors, such as constipation --> Enuresis alarms --> Pharmacological treatment - Desmopressin - analogue of ADH, oxybutynin - anticholinergic (reduces contractility) and imipramine - TCA

Answer 256

Urinary tract infection Constipation Type 1 diabetes New psychosocial problems (e.g. stress in family or school life) Maltreatment - deliberate bedwetting

Answer 257

treating the underlying cause e.g constipation/UTI easy to treat

Answer 258

--> Urge incontinence is an overactive bladder that gives little warning before emptying --> Stress incontinence describes leakage of urine during physical exertion, coughing or laughing.

Answer 259

Recurrent urinary tract infections Psychosocial problems Constipation

Answer 260

--> basement membrane becomes highly permeable to protein, allowing proteins to leak from the blood into the urine

Answer 261

2 to 5 years

Answer 262

Frothy urine generalised oedema pallor

Answer 263

--> Low serum albumin --> High urine protein content - >3+ protein on urine dipstick --> oedema

Answer 264

Deranged lipid profile, with high levels of cholesterol, triglycerides and low-density lipoproteins High blood pressure Hyper-coagulability, with an increased tendency to form blood clots

Answer 265

--> minimal change disease, causing over 90% of cases in children under 10. In minimal change disease, the nephrotic syndrome occurs in isolation, without any clear underlying condition or pathology. There are a number of secondary causes of nephrotic syndrome, where it occurs due to an underlying condition. --> can be secondary to intrinsic kidney disease - focal segmental glomerulosclerosis/ membranoproliferative glomerulonephritis --> Can also be secondary to an underlying illness - HSP/diabetes/infection - HIV, Malaria, hepatitis

Answer 266

not able to detect abnormality

Answer 267

small molecular weight proteins hyaline casts

Answer 268

--> Corticosteroids (Prednisolone)

Answer 269

The prognosis is good and most children make a full recovery, however it may reoccur.

Answer 270

--> High-dose steroids (i.e. prednisolone) --> Low salt diet --> Diuretics may be used to treat oedema --> Albumin infusions may be required in severe hypoalbuminaemia --> Antibiotic prophylaxis may be given in severe cases --> High-dose steroids are given for 4 weeks and then gradually weaned over the next 8 weeks: --> 80% of children will respond to steroids and are referred to as steroid sensitive --> 80% of steroid-sensitive patients will relapse at some point and need further steroids --> Patients that struggle to wean steroids due to relapses are referred to as steroid dependant --> Patients that do not respond to steroids are referred to as steroid-resistant In steroid-resistant children, ACE inhibitors and immunosuppressants such as cyclosporine, tacrolimus or rituximab may be used.

Answer 271

--> Hypovolaemia occurs as fluid leaks from the intravascular space into the interstitial space causing oedema and low blood pressure. --> Thrombosis can occur because proteins that normally prevent blood clotting are lost in the kidneys, and because the liver responds to the low albumin by producing pro-thrombotic proteins. --> Infection occurs as the kidneys leak immunoglobulins, weakening the capacity of the immune system to respond. This is exacerbated by treatment with medications that suppress the immune system, such as steroids. --> Acute or chronic renal failure --> Relapse

Answer 272

Congenital condition affecting males where the urethral meatus is abnormally displaced to the ventral side of the penis towards the scrotum

Answer 273

This might be further towards the bottom of the glans (in 90% of cases), halfway down the shaft or even at the base of the shaft. Epispadias is where the meatus is displaced to the dorsal side (top side) of the penis.

Answer 274

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

Answer 275

Difficulty directing urination Cosmetic and psychological concerns Sexual dysfunction

Answer 276

--> Thrombosis in small blood vessels throughout the body --> Triggered by a bacterial toxin called Shiga toxin --> leads to a triad of symptoms: Haemolytic anaemia: anaemia caused by red blood cells being destroyed Acute kidney injury: failure of the kidneys to excrete waste products such as urea Thrombocytopenia: low platelet count

Answer 277

toxin produced by the e. coli 0157 bacteria, called the shiga toxin. Shigella also produces this toxin. The use of antibiotics and anti-motility medications such as loperamide to treat gastroenteritis caused by these pathogens increases the risk of developing HUS.

Answer 278

The use of antibiotics and anti-motility medications such as loperamide to treat gastroenteritis caused by these pathogens increases the risk of developing HUS.

Answer 279

E. coli 0157 causes brief gastroenteritis, often with bloody diarrhoea. The symptoms of haemolytic uraemic syndrome typically start around 5 days after the onset of the diarrhoea. Signs and symptoms of HUS may include: Reduced urine output Haematuria or dark brown urine Abdominal pain Lethargy and irritability Confusion Oedema Hypertension Bruising

Answer 280

HUS is a medical emergency and has a 10% mortality. It needs to be managed by experienced paediatricians under the guidance of a renal specialist. The condition is self-limiting and supportive management is the mainstay of treatment: Urgent referral to the paediatric renal unit for renal dialysis if required Antihypertensives if required Careful maintenance of fluid balance Blood transfusions if required 70 to 80% of patients make a full recovery.

Answer 281

undescended testes

Answer 282

in the abdomen

Answer 283

through the inguinal canal into the scrotum

Answer 284

prior to birth

Answer 285

testicular torsion infertility testicular cancer

Answer 286

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

Answer 287

Watching and waiting is appropriate in newborns. In most cases the testes will descend in the first 3 – 6 months. If they have not descended by 6 months they should be seen by a paediatric urologist. Orchidopexy (surgical correction of undescended testes) should be carried out between 6 and 12 months of age.

Answer 288

twisting of the spermatic cord with rotation of the testicle - urological emergency and delay in treatment increases the risk of ischaemia and necrosis of the testicle - leading to infertility

Answer 289

Teenage boy - can occur at any age

Answer 290

activity - usually sports

Answer 291

--> Acute rapid onset --> unilateral testicular pain --> may be associated with abdo pain and vomiting --> Sometimes vomiting is the only sign

Answer 292

Firm swollen testicle Elevated (retracted) testicle Absent cremasteric reflex Abnormal testicular lie (often horizontal) Rotation, so that the epididymis is not in the normal posterior position

Answer 293

Testicular torsion is a urological emergency, and there is an urgent requirement for treatment. Any delay in treatment will prolong the ischaemia and reduce the chances of saving the testicle. The management of testicular torsion involves: Nil by mouth, in preparation for surgery Analgesia as required Urgent senior urology assessment Surgical exploration of the scrotum Orchiopexy (correcting the position of the testicles and fixing them in place) Orchidectomy (removing the testicle) if the surgery is delayed or there is necrosis

Answer 294

Ultrasound can show the whirlpool sign, a spiral appearance to the spermatic cord and blood vessels.

Answer 295

development of secondary sexual characteristics before 8 years in females and 9 years in males

Answer 296

first stage of breast development

Answer 297

first stage of pubic hair development

Answer 298

--> Gonadotrophin dependant/central --> Gonadotrophin independant/ pseudo/ false

Answer 299

due to premature activation of the hypothalamic-pituitary-gonadal axis FSH & LH raised

Answer 300

Gonadotrophin independent ('pseudo', 'false') due to excess sex hormones FSH & LH low

Answer 301

bilateral enlargement = gonadotrophin release from an intracranial lesion unilateral enlargement = gonadal tumour small testes = adrenal cause (tumour or adrenal hyperplasia)

Answer 302

usually idiopathic or familial and follows normal sequence of puberty

Answer 303

are rare, associated with rapid onset, neurological symptoms and signs and dissonance e.g. McCune Albright syndrome

Answer 304

The child is born with an underactive thyroid gland

Answer 305

--> Underdeveloped thyroid gland (dysgenesis) --> Fully developed thyroid gland that does not produce enough hormone (dyshormonogenesis) --> rarely from problems with the pituitary or hypothalamus

Answer 306

Newborn blood spot screening test

Answer 307

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

Answer 308

Acquired hypothyroidism is where a child or adolescent develops an underactive thyroid gland when previously it was functioning normally.

Answer 309

autoimmune thyroiditis, also known as Hashimoto’s thyroiditis.

Answer 310

causes autoimmune inflammation of the thyroid gland and subsequent under activity of the gland. It is associated with antithyroid peroxidase (anti-TPO) antibodies and antithyroglobulin antibodies. There is an association with other autoimmune conditions, particularly type 1 diabetes and coeliac disease.

Answer 311

Fatigue and low energy Poor growth Weight gain Poor school performance Constipation Dry skin and hair loss

Answer 312

Investigations include full thyroid function blood tests (TSH, T3 and T4), thyroid ultrasound and thyroid antibodies.

Answer 313

Levothyroxine orally once a day is used to replace the normal thyroid hormones. Doses are titrated based on thyroid function tests and symptoms.

Answer 314

Acquired hypothyroidism Congenital hypothyroidism

Answer 315

Cause of delayed puberty secondary to hypogonadotropic hypogonadism, it is an X-linked recessive genetic disorder. | pudiyana this penchondes a tough one

Answer 316

Failure of GnRH-secreting neurones migrating to the hypothalamus from olfactory placode

Answer 317

-->'delayed puberty' --> hypogonadism, cryptorchidism --> anosmia --> Sex hormone levels are low --> LH, FSH levels are inappropriately low/normal --> Patients are typically of normal or above-average height Cleft lip/palate and visual/hearing defects are also seen in some patients

Answer 318

testosterone supplementation gonadotrophin supplementation may result in sperm production if fertility is desired later in life

Answer 319

Congenital deficiency of the 21-hydroxylase enzyme which causes underproduction of cortisol and aldosterone and overproduction of androgens A genetic condition that is inherited as autosomal recessive pattern

Answer 320

Androgen - Testosterone hormone. It is found in high levels in men and low levels in women. It acts to promote male sexual characteristics. Glucocorticoid hormones act to help the body deal with stress, raise blood glucose, reduce inflammation and suppress the immune system. Cortisol is the main glucocorticoid hormone. The level of cortisol fluctuates during the day, with higher levels in the morning and during times of stress. It is released in response to adrenocorticotropic hormone (ACTH) from the anterior pituitary. Mineralocorticoid hormones act on the kidneys to control the balance of salt and water in the blood. Aldosterone is the main mineralocorticoid hormone. It is released by the adrenal gland in response to renin. Aldosterone acts on the kidneys to increase sodium reabsorption into the blood and increase potassium secretion into the urine. Therefore, aldosterone acts to increase sodium and decrease potassium in the blood.

Answer 321

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 322

Female patients with CAH usually present at birth with virilised genitalia, known as “ambiguous genitalia” and an enlarged clitoris due to the high testosterone levels. Patients with more severe CAH present shortly after birth with hyponatraemia, hyperkalaemia and hypoglycaemia. This leads to signs and symptoms: Poor feeding Vomiting Dehydration Arrhythmias

Answer 323

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

Answer 324

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.

Answer 325

Cortisol replacement, usually with hydrocortisone, similar to treatment for adrenal insufficiency Aldosterone replacement, usually with fludrocortisone Female patients with “virilised” genitals may require corrective surgery

Answer 326

The X-linked recessive condition causing end-organ resistance to testosterone causing genotypically male children to have female phenotypes

Answer 327

'primary amenorrhoea' little or no axillary and pubic hair undescended testes causing groin swellings breast development may occur as a result of the conversion of testosterone to oestradiol

Answer 328

buccal smear or chromosomal analysis to reveal 46XY genotype after puberty, testosterone concentrations are in the high-normal to the slightly elevated reference range for postpubertal boys

Answer 329

counselling - raise the child as female bilateral orchidectomy (increased risk of testicular cancer due to undescended testes) oestrogen therapy

Answer 330

Lifestyle choices growth hormone deficiency hypothyroidism Down's syndrome Cushing's syndrome Prader-Willi syndrome

Answer 331

--> orthopaedic problems: slipped upper femoral epiphyses, Blount's disease (a --development abnormality of the tibia resulting in bowing of the legs), musculoskeletal pains --> psychological consequences: poor self-esteem, bullying --> sleep apnoea --> benign intracranial hypertension --> long-term consequences: increased incidence of type 2 diabetes mellitus, hypertension and ischaemic heart disease

Answer 332

Systemic medium-sized vessel vasculitis

Answer 333

Young children - typically under 5 years Most common in Asian children - Japanese and Korean children Boys

Answer 334

No Clear cause or trigger

Answer 335

coronary artery aneurysm

Answer 336

Persistent high fever (above 39) for more than 5 days Unhappy and unwell children Widespread erythematous maculopapular rash Desquamation of the palms and soles Strawberry tongue Cracked lips cervical lymphadenopathy Bilateral conjunctivitis

Answer 337

Full blood count can show anaemia, leukocytosis and thrombocytosis Liver function tests can show hypoalbuminemia and elevated liver enzymes Inflammatory markers (particularly ESR) are raised Urinalysis can show raised white blood cells without infection Echocardiogram can demonstrate coronary artery pathology

Answer 338

--> Acute phase: The child is most unwell with a fever, rash and lymphadenopathy. This lasts 1 – 2 weeks. --> Subacute phase: The acute symptoms settle, the desquamation and arthralgia occur and there is a risk of coronary artery aneurysms forming. This lasts 2 – 4 weeks. --> Convalescent stage: The remaining symptoms settle, the blood tests slowly return to normal and the coronary aneurysms may regress. This last 2 – 4 weeks.

Answer 339

There are two first-line medical treatments given to patients with Kawasaki disease: High-dose aspirin to reduce the risk of thrombosis IV immunoglobulins to reduce the risk of coronary artery aneurysms Patients will need close follow-up with echocardiograms to monitor for evidence of coronary artery aneurysms.

Answer 340

Reyes syndrome

Answer 341

--> Prodromal phase - irritable, conjunctivitis, fever --> Koplik spots - before the rash and white spots (grain of salt) on the buccal mucosa --> The rash starts behind the ears and spreads - discrete maculopapular rash becoming blotchy & confluent, desquamation that typically spares the palms and soles may occur after a week --> Diarrhoea occurs in around 10% of patients

Answer 342

otitis media: the most common complication pneumonia: the most common cause of death

Answer 343

mainly supportive admission may be considered in immunosuppressed or pregnant patients notifiable disease → inform public health

Answer 344

if a child not immunized against measles comes into contact with measles then MMR should be offered (vaccine-induced measles antibody develops more rapidly than that following natural infection) this should be given within 72 hours

Answer 345

Varicella zoster virus VZV

Answer 346

--> widespread, erythematous, raised, vesicular (fluid filled), blistering lesions - starts on the trunk or face and spreads outwards affecting the whole body over 2 – 5 days. Eventually the lesions scab over, at which point they stop being contagious. --> Fever is the first symptom --> itch --> general fatigue

Answer 347

--> Chickenpox is highly contagious --> spreads through direct contact with the lesions, through infected droplets, from a cough or wheeze --> patients become symptomatic 10days to 3 weeks after exposure --> they stop being infectious once the lesions have crusted over

Answer 348

--> Bacterial superinfection --> Dehydration --> Conjunctival lesions --> Pneumonia --> Encephalitis (presenting as ataxia) --> After the infection the virus can lie dormant in the sensory dorsal root ganglion cells and cranial nerves reactivate later in life as shingles or Ramsay Hunt syndrome.

Answer 349

Can be given varicella zoster immunoglobulins

Answer 350

Congenital varicella syndrome - developmental problems in the fetus in a small portion of patients

Answer 351

life threatening neonatal infection and is treated with varicella zoster immunoglobulins and aciclovir

Answer 352

--> Chickenpox is usually mild self-limiting condition that does not require treatment in otherwise healthy children --> aciclovir - immunocompromised, adults and adolescents over 14 years presenting within 24 hours, neonates or those at risk of complications. --> Complications such as encephalitis require admission for inpatient management. --> Symptoms of itching can be treated with calamine lotion and chlorphenamine (antihistamine).

Answer 353

--> until all the lesions are dry and crusted over. This is usually around 5 days after the rash appears.

Answer 354

Is an upper respiratory tract infection caused by bordetella pertussis (Gram negative)

Answer 355

coughing fits are so severe that the child is unable to take in any air between coughs and subsequently makes a loud whooping sound as they forcefully suck in air after the coughing finishes.

Answer 356

Children and pregnant women

Answer 357

--> starts with mild coryzal symptoms, a low-grade fever and possibly a mild dry cough. --> More severe coughing fits start after a week or more. These involve sudden and recurring attacks of coughing with cough-free periods in between. This is described as a paroxysmal cough. Coughing fits are severe and keep building until the patient is completely out of breath --> Patient typically produces a large, loud inspiratory whoop when the coughing ends. Patients can cough so hard they faint, vomit or even develop a pneumothorax. --> infants with pertussis may present with apnoeas

Answer 358

--> A nasopharyngeal or nasal swab with PCR testing or bacterial culture can confirm the diagnosis within 2 to 3 weeks of the onset of symptoms. --> Where the cough has been present for more than 2 weeks patients can be tested for the anti-pertussis toxin immunoglobulin G. This is tested for in the oral fluid of children aged 5 to 16 and in the blood of those aged over 17.

Answer 359

--> Pertussis is a notifiable disease. Therefore Public Health need to be notified of each case. --> Management typically involves simple supportive care. Vulnerable or acutely unwell patients, those under 6 months and patients with apnoeas, cyanosis or patients with severe coughing fits may need to be admitted. Measures to prevent spread are important --> Macrolide antibiotics such as azithromycin, erythromycin and clarithromycin can be beneficial in the early stages (within the first 21 days) or vulnerable patients. Co-trimoxazole is an alternative to macrolides. --> Close contacts with an infected patient are given prophylactic antibiotics if they are in a vulnerable group, --> The symptoms typically resolve within 8 weeks, however they can last several months. It is also known as the “100-day cough"

Answer 360

Bronchiectasis

Answer 361

inflammation of the brain

Answer 362

autoimmune

Answer 363

--> HSV - human simplex virus - most common --> VZV - chicken pox/ cytomegalovirus - immunodeficiency/ Epstein-Barr virus associated with infectious mononucleosis/ enterovirus, adenovirus and influenza virus. --> It is important to ask about vaccinations, as polio, mumps, rubella and measles viruses can cause encephalitis as well.

Answer 364

HSV - In children the most common cause is herpes simple type 1 (HSV-1) from cold sores. In neonates it is herpes simplex type 2 (HSV-2) from genital herpes, contracted during birth.

Answer 365

--> Altered consciousness --> Altered cognition --> Unusual behaviour --> Acute onset of focal neurological symptoms --> Acute onset of focal seizures --> Fever

Answer 366

--> Lumbar puncture, sending cerebrospinal fluid for viral PCR testing --> CT scan if a lumbar puncture is contraindicated --> MRI scan after the lumbar puncture to visualise the brain in detail --> EEG recording can be helpful in mild or ambiguous symptoms but is not always routinely required Swabs of other areas can help establish the causative organism, such as throat and vesicle swabs --> HIV testing is recommended in all patients with encephalitis --> Contraindications to a lumbar puncture include a GCS below 9, haemodynamically unstable, active seizures or post-ictal.

Answer 367

--> Aciclovir treats herpes simplex virus (HSV) and varicella zoster virus (VZV) --> Ganciclovir treat cytomegalovirus (CMV) -->Repeat lumbar puncture is usually performed to ensure successful treatment prior to stopping antivirals Aciclovir is usually started empirically in suspected encephalitis until results are available. Other viral causes have no effective treatment and management is supportive. Followup, support and rehabilitation is required after encephalitis, with help managing the complications.

Answer 368

Lasting fatigue and prolonged recovery Change in personality or mood Changes to memory and cognition Learning disability Headaches Chronic pain Movement disorders Sensory disturbance Seizures Hormonal imbalance

Answer 369

superficial bacterial skin infection, caused by staphylococcus aureus bacteria

Answer 370

Staphylococcus aureus bacterial infection of the skin

Answer 371

a golden crust on the skin

Answer 372

Impetigo is contagious and children should be kept of school during the infection

Answer 373

Non-bullous and bullous impetigo

Answer 374

occurs around the nose and mouth and the exudate from the lesions dries to form a golden crust and are often unsightly but do not cause systemic symptoms or make the person unwell

Answer 375

antiseptic cream - hydrogen peroxide cream first line for localised infection Topical fusidic acid for localised non-bullous impetigo Oral flucloxacillin - treats more widespread or severe impetigo, flucoxacillin is the abx of choice for all staph infections

Answer 376

staphylococcus aureus bacteria can produce epidermolytic toxins that break down the proteins that hold skin cells together. This causes 1 – 2 cm fluid-filled vesicles to form on the skin. These vesicles grow in size and then burst, forming a “golden crust”. Eventually, they heal without scarring. These lesions can be painful and itchy. It is more common for patients to have systemic symptoms. They may be feverish and generally unwell. In severe infections when the lesions are widespread, it is called staphylococcus scalded skin syndrome.

Answer 377

neonates and children under 2 years

Answer 378

Treatment of bullous impetigo is with antibiotics, usually flucloxacillin. This may be given orally or intravenously if they are very unwell or at risk of complications. The condition is very contagious and patients should be isolated where possible.

Answer 379

Impetigo usually responds well to treatment without any long-term adverse effects. Rarely there can be complications: Cellulitis if the infection gets deeper into the skin Sepsis Scarring Post streptococcal glomerulonephritis Staphylococcus scalded skin syndrome Scarlet fever

Answer 380

Oral thrush - caused by an overgrowth of candida - fungus in the mouth - white spots or patches on the tongue or pallate

Answer 381

Inhaled corticosteroids (particularly with poor technique, not using a spacer and not rinsing with water afterwards) Antibiotics (disrupt the normal bacterial flora giving candida a chance to thrive) Diabetes Immunodeficiency (consider HIV) Smoking

Answer 382

Miconazole gel Nystatin suspension Fluconazole tablets (in severe or recurrent cases)

Answer 383

Group A haemolytic streptococci - Streptococcus pyogenes

Answer 384

It is more common in children aged 2 - 6 years with the peak incidence being at 4 years.

Answer 385

--> Fever: typically lasts 24 to 48 hours --> Malaise, headache, nausea/vomiting --> sore throat --> 'strawberry' tongue --> rash - fine punctate erythema ('pinhead') which generally appears first on the torso and spares the palms and soles/ children often have a flushed appearance with circumoral pallor. The rash is often more obvious in the flexures/ it is often described as having a rough 'sandpaper' texture/ desquamation occurs later in the course of the illness, particularly around the fingers and toes

Answer 386

--> A throat swab is normally taken but antibiotic treatment should be commenced immediately, rather than waiting for the results

Answer 387

Oral penicillin V for 10 days if Pen allergy then azithromycin Children can return to school 24 hours after commencing antibiotics Notifiable disease

Answer 388

--> Otitis media: the most common complication --> Rheumatic fever: typically occurs 20 days after infection --> Acute glomerulonephritis: typically occurs 10 days after infection --> invasive complications (e.g. bacteraemia, meningitis, necrotizing fasciitis) are rare but may present acutely with a life-threatening illness

Answer 389

--> Coxsackie A virus

Answer 390

--> starts as a typical URTI - tiredness, sore throat, dry cough, raised temperature --> 1-2 days later small mouth ulcers appear followed by blistering red spots across the body --> most notably on the hands, foot and mouth --> painful mouth ulcers on the tongue are also a key feature - may be itchy/

Answer 391

--> Clinical diagnosis of how the rash looks --> No treatment - just supportive - rash and illness should resolve spontaneously in 7-10 days --> highly contagious

Answer 392

Complications are rare Dehydration Bacterial superinfection Encephalitis

Answer 393

For most severe conditions causing immunodeficiency, children with SCID have almost no immunity to infections, caused by a number of different genetic disorders, resulting in absent or dysfunctional B and T cells.

Answer 394

Persistent severe diarrhoea Failure to thrive Opportunistic infections that are more frequent or severe than in healthy children, for example severe and later fatal chickenpox, Pneumocystis jiroveci pneumonia and cytomegalovirus Unwell after live vaccinations such as the BCG, MMR and nasal flu vaccine

Answer 395

More than 50% of cases are caused by mutations in the common gamma chain on the X chromosome that codes for interleukin receptors on T and B cells. This has X-linked recessive inheritance. There are many other gene mutations that can lead to SCID including: JAC3 gene mutations Mutations leading to adenosine deaminase deficiency

Answer 396

Management involves treating underlying infections, immunoglobulin therapy, minimising the risk of new infections with a sterile environment, avoiding live vaccines and performing haematopoietic stem cell transplantation.

Answer 397

inflammation of the meninges, caused by either bacterial to viral infection

Answer 398

meningococcus (Neisseria meningitis) bacterial infection in the bloodstream - causes a non-blanching rash - caused by the infection leading to Disseminated intravascular coagulopathy and subcutaneous haemorrhages.

Answer 399

Bacteria is infecting the meninges and the cerebrospinal fluid around the brain and spinal cord

Answer 400

Neisseria meningitidis (meningococcus) and Streptococcus pneumoniae (pneumococcus).

Answer 401

in neonates the most common cause is group B strep (GBS), GBS is usually contracted during birth from the mothers vag

Answer 402

--> Typical symptoms - fever/ neck stiffness/ vomiting/ headache/ photophobia/ altered consciousness and seizures. Where there is meningococcal septicaemia children can present with a non-blanching rash. Other causes of bacterial meningitis do not usually cause the non-blanching rash. --> Neonates and babies can present with very non-specific signs and symptoms, such as hypotonia, poor feeding, lethargy, hypothermia and a bulging fontanelle. NICE recommend a lumbar puncture as part of the investigations for all children: Under 1 month presenting with fever 1 to 3 months with fever and are unwell Under 1 year with unexplained fever and other features of serious illness

Answer 403

Kernig’s test involves lying the patient on their back, flexing one hip and knee to 90 degrees and then slowly straightening the knee whilst keeping the hip flexed at 90 degrees. This creates a slight stretch in the meninges. Where there is meningitis it will produce spinal pain or resistance to movement. Brudzinski’s test involves lying the patient flat on their back and gently using your hands to lift their head and neck off the bed and flex their chin to their chest. In a positive test this causes the patient to involuntarily flex their hips and knees.

Answer 404

LP: L3 - L4 Bacterial: high protein, low glucose, high neutrophils Viral: normal protein, normal glucose, high lymphocytes TB: high protein, low glucose, high lymphocytes –> Blood culture –> throat swabs - bacterial and viral

Answer 405

Community: Immediate IM or IV Benzylpenicillin Withhold treatment if true penicillin anaphylaxis, priority is transfer. Hospital: Ideally blood cultures and LP should be done, but do not delay treatment if acutely unwell. Under 3 months - IV cefotaxime and amoxicillin - covers listeria contracted during preg Above 3 months - IV Ceftriaxone. Add IV Vancomycin in recent travellers Prophylaxis: Contact in the last 7 days. A single dose of Oral Ciprofloxacin or Rifampicin (except in pregnancy). Corticosteroids - Oral dexamethasone to reduce cerebral oedema and complications (hearing loss, neurological damage). 4 times daily for 4 days to children over 3 months. Viral meningitis - LP can be done, usually self-limiting. Acyclovir may be used in HSV or VZV meningitis.

Answer 406

Bacterial - cloudy Viral - clear

Answer 407

Hearing loss is a key complication Seizures and epilepsy Cognitive impairment and learning disability Memory loss Cerebral palsy, with focal neurological deficits such as limb weakness or spasticity

Answer 408

infection of the middle ear - space between the tympanic membrane and the inner ear. This is where the cochlea, vestibular apparatus and nerves are found

Answer 409

Through the eustachian tube, a bacterial infection of the middle ear is usually preceded by a Viral URTI

Answer 410

Streptococcus pneumoniae - most common Haemophilus influenzae Moraxella catarrhalis Staphylococcus aureus

Answer 411

--> ear pain, reduced hearing, fever, cough, coryzal symptoms, sore throat --> Vertigo if the infection affects the vestibular system --> If the tympanic membrane has been ruptured then can be discharged --> non-specific, particularly in young children and infants. They may present with symptoms of fever, vomiting, irritability, lethargy or poor feeding. It is always worth examining the ears in unwell children.

Answer 412

--> otoscope - pinna up and back, the tympanic membrane should be pearly grey, translucent and slightly shiny --> Otitis media - bulging, red, inflamed-looking membrane, can be perforation too. loss of light reflex

Answer 413

--> Consider referral to paediatrics for assessment or admission if symptoms are severe or there is diagnostic doubt. Always refer for specialist assessment and to consider admission in infants younger than 3 months with a temperature above 38ºC or 3 – 6 months with a temperature higher than 39ºC. --> Most cases resolve without analgesia and can use simple analgesia --> Consider prescribing antibiotics at the initial presentation in patients who have significant co-morbidities, are systemically unwell or are immunocompromised. Children less than 2 years with bilateral otitis media and children with otorrhoea (discharge) are more likely to benefit from antibiotics. -->Consider a delayed prescription that can be collected and used after 3 days if symptoms have not improved or have worsened at any time. This can be useful with patients that are very keen on antibiotics or where you suspect they might get worse. --> The first line choice of antibiotic is amoxicillin for 5 days. Alternatives are erythromycin and clarithromycin

Answer 414

Otitis medial with effusion Hearing loss (usually temporary) Perforated eardrum Recurrent infection Mastoiditis (rare) Abscess (rare)

Answer 415

known as otitis media with effusion, middle ear becomes full of lfuid and causes a loss of hearing in that ear

Answer 416

The eustachian tube can become blocked

Answer 417

reduction of hearing in the affected ear

Answer 418

otitis media

Answer 419

dull tympanic membrane with air bubbles or a visible fluid level, although it can look normal.

Answer 420

Referral for audiometry to help establish the diagnosis and extent of hearing loss. Glue ear is usually treated conservatively, and resolves without treatment within 3 months. Children with co-morbidities affecting the structure of the ear, such as Down’s syndrome or cleft palate may require hearing aids or grommets.

Answer 421

Grommets are tiny tubes inserted into the tympanic membrane by an ENT surgeon. This allows fluid from the middle ear to drain through the tympanic membrane to the ear canal. Usually, grommets are inserted under general anaesthetic as a day-case procedure. The procedure is relatively safe with few complications. Grommets usually fall out within a year, and only 1 in 3 patients require further grommets to be inserted for persistent glue ear.

Answer 422

A chronic atopic condition caused by defects in the moral continuity of the skin barrier leading to inflammation of the skin

Answer 423

dry, red, itchy and sore patches of skin over the flexor surfaces (the inside of elbows and knees) and on the face and neck. Patients with eczema experience periods where the condition is well controlled and periods where the eczema is more problematic, known as flares.

Answer 424

defects in the barrier that the skin provides. Tiny gaps in the skin barrier provide an entrance for irritants, microbes and allergens that create an immune response, resulting in inflammation and the associated symptoms.

Answer 425

--> Maintenance and management of flares --> Emollients - to compensate for the defective skin barrier --> Avoid activities that break down the skin barrier --> flares - thicker emollients, topical steroids, wet wraps, rarely steroids or IV antibiotics --> Specialist treatment - zinc bandages, topical tacrolimus, phototherapy, systemic immunosuppressants e.g corticosteroids, methotrexate and azathioprine.

Answer 426

--> Thinning of the skin --> can result in telangiectasia

Answer 427

--> Staphylococcus aureus

Answer 428

--> viral skin infection caused by the herpes simplex virus - most common (associated with cold sores) or the varicella-zoster virus --> patients with pre-existing skin conditions - atopic eczema and dermatitis where the virus is able to enter the skin

Answer 429

--> widespread painful, vesicular rash with systemic symptoms such as fever, lethargy, irritability and reduced oral intake, there will usually be lymphadenopathy

Answer 430

--> widespread --> erythematous, painful and itchy --> vesicles containing pus --> after they burst leave a small punched out ulcer with a red base

Answer 431

--> viral swabs of the vesicles to confirm the diagnoses - although treatment usually started before --> aciclovir - more severe cases IV aciclovir

Answer 432

--> can be life-threatening if the patient is immunocompromised --> bacterial superinfection

Answer 433

--> same pathology --> Immune response causes epidermal necrosis --> results in blistering and shedding of the top layer of skin --> SJS affects less than 10% of the body surface area and TEN affects more than 10% of the body surface area

Answer 434

Certain HLA genetic types are at higher risk of SJS and TEN

Answer 435

Medications Anti-epileptics Antibiotics Allopurinol NSAIDs Infections Herpes simplex Mycoplasma pneumonia Cytomegalovirus HIV

Answer 436

--> Spectrum of severity. Some cases are mild whilst others are very severe and can potentially be fatal. --> Start with non-specific symptoms of fever, cough, sore throat, sore mouth, sore eyes and itchy skin. They then develop a purple or red rash that spreads across the skin and starts to blister. --> A few days after the blistering starts, the skin starts to break away and shed leaving the raw tissue underneath. Pain, erythema, blistering and shedding can also happen to the lips and mucous membranes. Eyes can become inflamed and ulcerated. It can also affect the urinary tract, lungs and internal organs.

Answer 437

--> medical emergency --> Good supportive care is essential, including nutritional care, antiseptics, analgesia and ophthalmology input. --> Treatment options include steroids, immunoglobulins and immunosuppressant

Answer 438

--> Secondary infection: The breaks in the skin can lead to secondary bacterial infection, cellulitis and sepsis. --> Permanent skin damage: Skin involvement can lead to scarring and damage to skin, hair, nails, lungs and genitals. --> Visual complications: Depending on the severity, eye involvement can range from sore eyes to severe scarring and blindness.

Answer 439

--> condition caused by an IgE mediated type 1 hypersensitivity reaction --> environmental allergens cause an allergic inflammatory response in the nasal mucosa --> very common and can affect sleep, mood, hobbies and work and QOL

Answer 440

Seasonal, for example, hay fever Perennial (year-round), for example, house dust mite allergy Occupational, associated with the school or work environment

Answer 441

Runny, blocked and itchy nose Sneezing Itchy, red and swollen eyes

Answer 442

--> personal or family history of other allergic conditions - atopy

Answer 443

Diagnosis is usually made based on history. Skin prick testing can be useful, particularly testing for pollen, animals and house dust mite allergy.

Answer 444

--> Tree pollen or grass allergy leads to seasonal symptoms (hay fever) --> House dust mites and pets can lead to persistent symptoms, often worse in dusty rooms at night. Pillows can be full of house dust mites. --> Pets can lead to persistent symptoms when the pet or their hair, skin or saliva is present --> Other allergens lead to symptoms after exposure (e.g. mould)

Answer 445

--> avoid triggers --> oral antihistamines - cetrizine, loratadine and fexofenadine (non-sedating). chlorophenamine and promethazine are sedating --> nasal antihistamines - good for rapid onset symptoms --> referral to immunologist if still unmanageable

Answer 446

--> also known as hives --> small itchy bumps that appear on the skin --> associated with patchy erythematous rash --> may be associated with angiodema and flushing of the skin --> can be acute or chronic

Answer 447

-> Urticaria is caused from the release of histamine and other pro-inflammaotry chemicals from mast cells in the skin --> may be part of an allergic reaction in acute urticaria or an autoimmune reaction in chronic idiopathic urticaria

Answer 448

Acute urticaria is typically triggered by something that stimulates the mast cells to release histamine. This may be: --> Allergies to food, medications or animals --> Contact with chemicals, latex or stinging nettles --> Medications --> Viral infections --> Insect bites --> Dermatographism (rubbing of the skin)

Answer 449

is an autoimmune condition where autoantibodies target the mast cells and trigger them to release histamines and other chemicals

Answer 450

Chronic idiopathic urticaria Chronic inducible urticaria Autoimmune urticaria

Answer 451

describes recurrent episodes of chronic urticaria without a clear underlying cause or trigger.

Answer 452

--> describes episodes of chronic urticaria that can be induced by certain triggers e.g - sunlight, temp change, exercise, strong emotions, hot or cold weather, pressure

Answer 453

chronic urticaria associated with an underlying autoimmune condition, such as systemic lupus erythematosus.

Answer 454

Antihistamines are the main treatment for urticaria. Fexofenadine is usually the antihistamine of choice for chronic urticaria. Oral steroids may be considered as a short course for severe flares. In very problematic cases referral to a specialist may be required to consider treatment with: Anti-leukotrienes such as montelukast Omalizumab, which targets IgE Cyclosporin

Answer 455

--> life-threatening medical emergency. It is caused by a severe type 1 hypersensitivity reaction. Immunoglobulin E (IgE) stimulates mast cells to rapidly release histamine and other pro-inflammatory chemicals. This is called mast cell degranulation. --> This causes a rapid onset of symptoms, with airway, breathing and/or circulation compromise. --> The key feature that differentiates anaphylaxis from a non-anaphylactic allergic reaction is a compromise of the airway, breathing or circulation.

Answer 456

Patients present with a history of exposure to an allergen (although it can be idiopathic). There will be a rapid onset of allergic symptoms: --> Urticaria --> Itching --> Angio-oedema, with swelling around lips and eyes --> Abdominal pain Additional symptoms that indicate anaphylaxis are: --> Shortness of breath --> Wheeze --> Swelling of the larynx, causing stridor --> Tachycardia --> Lightheadedness --> Collapse

Answer 457

Initial assessment of the acutely unwell child is with an ABCDE approach, assessing and treating: A – Airway: Secure the airway B – Breathing: Provide oxygen if required. Salbutamol can help with wheezing. C – Circulation: Provide an IV bolus of fluids D – Disability: Lie the patient flat to improve cerebral perfusion E – Exposure: Look for flushing, urticaria and angioedema Once a diagnosis of anaphylaxis is established, there are three medications given to treat the reaction: Intramuscular adrenalin, repeated after 5 minutes if required Antihistamines, such as oral chlorphenamine or cetirizine Steroids, usually intravenous hydrocortisone

Answer 458

--> period of observation in the paediatric ward - as a biphasic reaction can occur later --> Anaphylaxis can be confirmed by measuring the serum mast cell tryptase within 6 hours of the event - tryptase released during mast cell degradation --> Education on adrenalin auto-injector and basic life support

Answer 459

Bleeding under the skin

Answer 460

Small, non - blanching red spots on the skin caused by burst capillaries

Answer 461

Larger, non-blanching, red-purple macules or papules created by leaking of blood from the vessels under the skin

Answer 462

Meningococcal septicaemia or other bacterial sepsis: This presents with a feverish unwell child. Any features of meningococcal septicaemia indicate emergency management with immediate antibiotics. This can lead to significant morbidity and mortality if treatment is delayed. Henoch-Schonlein purpura (HSP): This typically presents as a purpuric rash on the legs and buttocks and may have associated abdominal or joint pain. Idiopathic thrombocytopenic purpura (ITP): This develops over several days in an otherwise well child. Acute leukaemias: This presents with a gradual development of petechiae, potentially with other signs such as anaemia, lymphadenopathy and hepatosplenomegaly. Haemolytic uraemic syndrome (HUS): This is associated with oliguria (very low urine output) and signs of anaemia. This often presents in a child with recent diarrhoea. Mechanical: Strong coughing, vomiting or breath holding can produce petechiae in a “superior vena cava distribution”, above the neck and most prominently around the eyes. Traumatic: Tight pressure on the skin, for example in non-accidental injury, or occlusion of blood in an area of skin can lead to traumatic petechiae. Viral illness: This is often the explanation when other causes and serious illness are excluded. Typical causes are influenza and enterovirus.

Answer 463

--> Full blood count: Anaemia can suggest HUS or leukaemia. Low white cells can suggest neutropenic sepsis or leukaemia. Low platelets can suggest ITP or HUS. --> Urea and electrolytes: High urea and creatinine can indicate HUS or HSP with renal involvement. --> C-reactive protein (CRP): This is a non-specific indication of inflammation or infection and can be useful but not definitive in excluding sepsis. --> Erythrocyte sedimentation rate (ESR): This is a non-specific indication of inflammatory illness such as a vasculitis (HSP) or infection. --> Coagulation screen, including PT, APTT, INR and fibrinogen can diagnose clotting abnormalities. --> Blood culture: This can be useful but not definitive in diagnosing or excluding sepsis. --> Meningococcal PCR: This can confirm meningococcal disease, although this should not delay treatment. --> Lumbar puncture: To diagnose meningitis or encephalitis. --> Blood pressure: Hypertension can occur in HSP and HUS. Hypotension can occur in septic shock. --> Urine dipstick: Proteinuria and haematuria can suggest HSP with renal involvement, or HUS.

Answer 464

Low levels of haemoglobin in the blood Result of an underlying disease

Answer 465

--> Physiologic anaemia of injury - most common --> Anaemia of prematurity --> blood loss --> Haemolysis (ABO or rhesus incompatibility/ hereditary spherocytosis/ G6PD deficiency) --> twin-twin transfusion - where blood is unequally distributed between twins that share a placenta

Answer 466

--> normal dip in Hb around 6 to 9 weeks in healthy term babies --> High oxygen delivery to the tissues by the high haemoglobin levels at birth causes negative feedback --> erythropoietin production by the kidneys is suppressed and reduced production of Hb by bone marrow --> High oxygen results in lower Hb production

Answer 467

--> 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 468

cause of haemolysis and jaundice in neonates

Answer 469

incompatibility between the rhesus antigens on the surface of red blood cells of the mother and fetus - the most important rhesus D antigen

Answer 470

--> Women who is rhesus D negative and pregnant, have to consider the possibility of the fetus being rhesus D positive --> likely at some point in pregnancy that the blood from the fetus will find a way into her bloodstream --> When this happens the mother's immune system recognises the rhesus D antigen as foreign and produces antibodies - mother has become sensitised to the rhesus D antigens --> usually sensitisation does not cause problems for the first pregnancy unless sensitisation happens early on --> In subsequent pregnancies the mother's anti-D antibodies can cross the placenta into the fetus and if the fetus is rhesus D positive they can cause the fetus to attack their own RBCs --> leads to anaemia and high billirubin levels

Answer 471

--> Direct coombs test - checks for immune hemolytic anaemia --> Positive in haemolytic disease of the newborn

Answer 472

Key causes: --> Iron deficiency anaemia - secondary to dietary insufficiency - most common --> Blood loss - most frequently from menstruating girls/ developing countries - helminth infection (roundworms/hookworms/whipworms) treated with a single dose of albendazole or mebendazole Rarer: --> Sickle cell anaemia --> thalassaemia --> leukaemia --> hereditary spherocytosis --> sideroblastic anaemia

Answer 473

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

Answer 474

There are 3 As and 2 Hs for normocytic anaemia: A – Acute blood loss A – Anaemia of Chronic Disease A – Aplastic Anaemia H – Haemolytic Anaemia H – Hypothyroidism

Answer 475

Impaired DNA synthesis prevents the cell from dividing normally Keeps growing into a large abnormal cell Caused by vitamin deficiency

Answer 476

B12 deficiency Folate deficiency

Answer 477

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

Answer 478

-->Tiredness --> Shortness of breath --> Headaches --> Dizziness --> Palpitations --> Worsening of other conditions There are symptoms specific to iron deficiency anaemia: --> Pica describes dietary cravings for abnormal things such as dirt and can signify iron deficiency --> Hair loss can indicate iron deficiency anaemia

Answer 479

Generic signs of anaemia: --> Pale skin --> Conjunctival pallor --> Tachycardia --> Raised respiratory rate Signs of specific causes of anaemia: --> Koilonychia refers to spoon shaped nails, which can indicate iron deficiency --> Angular chelitis can indicate iron deficiency --> Atrophic glossitis is a smooth tongue due to atrophy of the papillae and can indicate iron deficiency --> Brittle hair and nails can indicate iron deficiency --> Jaundice occurs in haemolytic anaemia --> Bone deformities occur in thalassaemia

Answer 480

Initial Investigations: --> Full blood count for haemoglobin and MCV --> Blood film --> Reticulocyte count - Reticulocytes are immature red blood cells. A high level of reticulocytes in the blood indicates active production of red blood cells to replace lost cells. This usually indicates the anaemia is due to haemolysis or blood loss. --> Ferritin (low iron deficiency) --> B12 and folate --> Bilirubin (raised in haemolysis) --> Direct Coombs test (autoimmune haemolytic anaemia) --> Haemoglobin electrophoresis (haemoglobinopathies) Further investigation will depend on the suspected underlying cause.

Answer 481

Management depends on establishing the underlying cause and directing treatment accordingly. Iron deficiency can be treated with iron supplementation. Severe anaemia may require blood transfusions.

Answer 482

Thalassaemia is related to a genetic defect in the protein chains that make up haemoglobin. Normal haemoglobin consists of 2 alpha and 2 beta globin chains. Defects in the alpha globin chains lead to alpha thalassaemia. Defects in the beta-globin chains lead to beta thalassaemia. Both conditions are autosomal recessive. The overall effect is varying degrees of anaemia, depending on the type and mutation In patients with 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. The bone marrow expands to produce extra red blood cells to compensate for chronic anaemia. This causes susceptibility to fractures and prominent features, such as a pronounced forehead and malar eminences (cheekbones).

Answer 483

Microcytic anemia (low mean corpuscular volume) Fatigue Pallor Jaundice Gallstones Splenomegaly Poor growth and development Pronounced forehead and malar eminences

Answer 484

--> Full blood count shows microcytic anaemia. --> Haemoglobin electrophoresis is used to diagnose globin abnormalities. --> DNA testing can be used to look for the genetic abnormality --> Pregnant women are offered a screening test for thalassemia at booking

Answer 485

--> from the faulty creation of red blood cells --> recurrent transfusions --> Increased absorption of iron in the gut in response to anemia Patients with thalassaemia have serum ferritin levels monitored to check for iron overload

Answer 486

Iron overload in thalassemia causes effects similar to hemochromatosis: Fatigue Liver cirrhosis Infertility Impotence Heart failure Arthritis Diabetes Osteoporosis and joint pain

Answer 487

limiting transfusions and performing iron chelation.

Answer 488

Alpha-thalassaemia is caused by defects in alpha globin chains. The gene coding for this protein is on chromosome 16.

Answer 489

--> Monitoring the full blood count --> Monitoring for complications --> Blood transfusions --> Splenectomy may be performed --> Bone marrow transplant can be curative

Answer 490

Beta-thalassaemia is caused by defects in beta globin chains. The gene coding for this protein is on chromosome 11. The gene defect can either consist of abnormal copies that retain some function or deletion genes where there is no function in the beta-globin protein at all. Based on the type of defect, beta-thalassemia can be split into three types: Thalassemia minor Thalassaemia intermedia Thalassemia major

Answer 491

Patients with beta thalassaemia minor are carriers of an abnormally functioning beta globin gene. They have one abnormal and one normal gene.

Answer 492

mild microcytic anaemia

Answer 493

only require monitoring and no active treatment.

Answer 494

Patients with beta thalassaemia intermedia have two abnormal copies of the beta globin gene. This can be either two defective genes or one defective gene and one deletion gene.

Answer 495

more significant microcytic anaemia

Answer 496

monitoring and occasional blood transfusions. When they require more transfusions, they may require iron chelation to prevent iron overload.

Answer 497

Patients with beta thalassaemia major 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 498

--> Severe microcytic anaemia --> Splenomegaly --> Bone deformities

Answer 499

Management involves regular transfusions, iron chelation, and splenectomy. Bone marrow transplants can potentially be curative.

Answer 500

Genetic disorder which causes sickle shaped red blood cells Abnormal shape makes the red blood cells more fragile and easily destroyed leading to haemolytic anaemia prone to various sickle cell crises

Answer 501

During fetal development, at around 32-36 weeks gestation, fetal haemoglobin (HbF) production decreases, and adult haemoglobin (HbA) increases. There is a gradual transition from HbF to HbA. At birth, around half the haemoglobin is HbF, and half is HbA. By six months of age, very little HbF is produced, and red blood cells contain almost entirely HbA. Patients with sickle-cell disease have an abnormal variant called haemoglobin S (HbS). HbS results in sickle-shaped red blood cells. Sickle cell anaemia is an autosomal recessive condition affecting the gene for beta-globin on chromosome 11. One abnormal copy of the gene results in sickle-cell trait. Patients with sickle-cell trait are usually asymptomatic. They are carriers of the condition. Two abnormal copies result in sickle-cell disease.

Answer 502

Having the 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 genes

Answer 503

--> Newborn blood spot at around 5 days of age --> Pregnant women at high risk of being carriers of sickle cell trait are offered testing

Answer 504

Anaemia Increased risk of infection Chronic kidney disease Sickle cell crises Acute chest syndrome Stroke Avascular necrosis in large joints such as the hip Pulmonary hypertension Gallstones Priapism (painful and persistent penile erections)

Answer 505

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 be triggered by dehydration, infection, stress or cold weather.

Answer 506

There is no specific treatment for sickle cell crisis. They are managed supportively, with: Low threshold for admission to hospital Treating infections that may have triggered the crisis Keep warm Good hydration (IV fluids may be required) Analgesia (NSAIDs should be avoided where there is renal impairment)

Answer 507

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 ischemia.

Answer 508

It typically presents with pain and swelling in the hands or feet but can affect the chest, back, or other body areas. It can be associated with fever. It can cause priapism in men 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 509

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. Medical emergency

Answer 510

--> Management is supportive, with blood transfusions and fluid resuscitation to treat anaemia and shock --> Splenectomy prevents sequestration crises and may be used in recurrent cases.

Answer 511

--> splenic infarction, leading to hyposplenism and susceptibility to infections

Answer 512

Aplastic crisis 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 supportive, with blood transfusions if necessary. It usually resolves spontaneously within around a week.

Answer 513

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.

Answer 514

Fever SOB chest pain cough hypoxia X-ray shows pulmonary infiltrates

Answer 515

Medical emergency --> 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 516

A specialist MDT will manage sickle cell disease. The general principles are: --> Avoid triggers for crises, such as dehydration --> Up-to-date vaccinations --> Antibiotic prophylaxis to protect against infection, typically with penicillin V (phenoxymethylpenicillin) --> Hydroxycarbamide (stimulates HbF) --> Crizanlizumab --> monoclonal antibody which prevents RBC sticking with blood vessel --> Blood transfusions for severe anaemia --> Bone marrow transplant can be curative

Answer 517

X-linked recessive

Answer 518

X-linked recessive disorder of coagulation

Answer 519

--> can bleed excessively in response to minor trauma --> Most cases present in early childhood with intracranial haemorrhages/ haematomas and cord bleeding in neonates --> Spontaneous bleeding into joints (haemarthrosis) - can lead to joint damage and deformity, bleeding into muscle can cause compartment syndrome Other areas of bleeding include: --> Oral mucosa --> Nosebleeds (epistaxis) --> Gastrointestinal tract --> Urinary tract, causing haematuria --> Intracranial haemorrhage --> Surgical wounds

Answer 520

bleeding scores coagulation factor assays genetic testing

Answer 521

The affected clotting factors (VIII or IX) can be given by intravenous infusion, either regularly or in response to bleeding. A complication of this treatment is the formation of antibodies (called inhibitors) against the treatment, resulting in it becoming ineffective.

Answer 522

most common inherited cause of abnormal and prolonged bleeding autosomal dominant, can be acquired, rare such as leukaemia

Answer 523

In von Willebrand disease, there is a deficiency, absence or malfunctioning of a glycoprotein called von Willebrand factor (VWF). Von Willebrand factor is important in platelet adhesion and aggregation in damaged vessels.

Answer 524

Type 1 involves a partial deficiency of VWF and is the most common and mildest type Type 2 involves the reduced function of VWF Type 3 involves a complete deficiency of VWF and is the most rare and severe type

Answer 525

Patients present with a history of unusually easy, prolonged or heavy bleeding: Bleeding gums with brushing Nosebleeds (epistaxis) Easy bruising Heavy menstrual bleeding (menorrhagia) Heavy bleeding during and after surgical operations

Answer 526

Diagnosis is based on a history of abnormal bleeding, family history, bleeding assessment tools and laboratory investigations. Due to the various underlying causes and types, there is no single von Willebrand disease test

Answer 527

Von Willebrand disease does not generally require daily treatment. Management is needed in response to significant bleeding or trauma (to stop bleeding) or in preparation for operations (to prevent bleeding). Options include: Desmopressin (stimulates the release of vWF from endothelial cells) Tranexamic acid Von Willebrand factor infusion Factor VIII plus von Willebrand factor infusion

Answer 528

Type 2 hypersensitivity reaction causing a low platelet count and a non-blanching rash --> production of antibodies that targets and destroys platelets --> can occur spontaneously or can be triggered by something such as a viral infection

Answer 529

--> usually in children under 10 --> often history of recent viral illness, onset 24-48 hours --> bleeding - gums, epistaxis or menorrhagia --> bruising --> Petechial/purpuric rash, caused by bleeding under the skin

Answer 530

--> Urgent full blood count - platelet count low and everything else normal --> Other causes of low platelet count should be excluded such as heparin-induced thrombocytopenia and leukaemia

Answer 531

The severity and management depends on how low the platelet count falls. Usually no treatment is required and patients are monitored until the platelets return to normal. Around 70% of patients will remit spontaneously within 3 months. Treatment may be required if the patient is actively bleeding or severe thrombocytopenia (platelets below 10): --> Prednisolone --> IV immunoglobulins --> Blood transfusions if required --> Platelet transfusions only work temporarily --> Platelet transfusions only work temporarily because the antibodies against platelets will begin destroying the transfused platelets as soon as they are infused

Answer 532

Chronic ITP Anaemia Intracranial and subarachnoid haemorrhage Gastrointestinal bleeding

Answer 533

Dietary insufficiency. This is the most common cause in children. Loss of iron, for example in heavy menstruation Inadequate iron absorption, for example in Crohn’s disease

Answer 534

--> Iron is mainly absorbed in the duodenum and jejunum. It requires the acid from the stomach to keep the iron in the soluble ferrous (Fe2+) form. --> When there is less acid in the stomach, it changes to the insoluble ferric (Fe3+) form. Therefore, medications that reduce stomach acid, such as proton pump inhibitors (lansoprazole and omeprazole) can interfere with iron absorption

Answer 535

--> Ferritin is the form that iron takes when it is deposited and stored in cells. --> Extra ferritin is released from cells when there is inflammation, such as with infection or cancer. --> If ferritin in the blood is low, this is highly suggestive of iron deficiency. --> High ferritin is difficult to interpret and is likely to be related to inflammation rather than iron overload. --> A patient with normal ferritin can still have iron deficiency anaemia, particularly if they have reasons to have a raised ferritin, such as infection.

Answer 536

Serum iron levels in blood vary significantly throughout the day

Answer 537

Total iron binding capacity can be used as a marker for how much transferrin is in the blood. It is an easier test to perform than measuring transferrin. Both TIBC and transferrin levels increase in iron deficiency and decrease in iron overload.

Answer 538

--> Management involves treating the underlying cause and correcting the anaemia. In children the underlying cause is usually dietary deficiency, so input from a dietician can be helpful. --> Iron can be supplemented with ferrous sulphate or ferrous fumarate. This slowly corrects the iron deficiency. Oral iron causes constipation and black-coloured stools. It is unsuitable where malabsorption is the cause of the anaemia. --> Blood transfusions are very rarely necessary. Children are generally able to tolerate low haemoglobin well and can be given time to correct their anaemia.

Answer 539

Name for a cancer of a particular line of stem cells in the bone marrow. This causes unregulated production of certain types of blood cells. Types of leukemia can be classified depending on how rapidly they progress (chronic is slow and acute is fast) and the cell line that is affected (myeloid or lymphoid).

Answer 540

Acute lymphoblastic leukaemia (ALL) is the most common in children Acute myeloid leukaemia (AML) is the next most common Chronic myeloid leukaemia (CML) is rare

Answer 541

ALL peaks aged 2 – 3 years AML peaks aged under 2 years

Answer 542

--> Leukaemia is a form of cancer of the cells in the bone marrow. A genetic mutation in one of the precursor cells in the bone marrow leads to excessive production of a single type of abnormal white blood cell. --> The excessive production of a single type of cell can lead to suppression of the other cell lines, causing underproduction of other cell types. This results in a pancytopenia, which is a combination of low: Red blood cells (anaemia), White blood cells (leukopenia) Platelets (thrombocytopenia)

Answer 543

Radiation exposure, for example with an abdominal xray during pregnancy, is the main environmental risk factor for leukaemia. There are several conditions that predispose to a higher risk of developing leukaemia: Down’s syndrome Kleinfelter syndrome Noonan syndrome Fanconi’s anaemia

Answer 544

--> Persistent fatigue --> Unexplained fever --> Failure to thrive --> Weight loss --> Night sweats --> Pallor (anaemia) --> Petechiae and abnormal bruising (thrombocytopenia) --> Unexplained bleeding (thrombocytopenia) --> Abdominal pain --> Generalised lymphadenopathy --> Unexplained or persistent bone or joint pain --> Hepatosplenomegaly

Answer 545

NICE recommend referring any child with unexplained petechiae or hepatomegaly for immediate specialist assessment. If leukaemia is suspected based on the non-specific signs above, NICE recommends a very urgent full blood count within 48 hours. Investigations to establish the diagnosis: --> Full blood count, which can show anaemia, leukopenia, thrombocytopenia and high numbers of the abnormal WBCs --> Blood film, which can show blast cells --> Bone marrow biopsy --> Lymph node biopsy Further tests may be required for staging: --> Chest x-ray --> CT scan --> Lumbar puncture --> Genetic analysis and immunophenotyping of the abnormal cells

Answer 546

Treatment of leukaemia will be coordinated by a paediatric oncology multi-disciplinary team. Leukaemia is primarily treated with chemotherapy. Other therapies: Radiotherapy Bone marrow transplant Surgery

Answer 547

Failure to treat the leukaemia Stunted growth and development Immunodeficiency and infections Neurotoxicity Infertility Secondary malignancy Cardiotoxicity

Answer 548

The overall cure rate for ALL is around 80%, but the prognosis depends on individual factors. The outcomes are less positive for AML

Answer 549

Wilms’ tumour is a specific type of tumour affecting the kidney in children, typically under the age of 5 years.

Answer 550

--> child under 5 with a mass in the abdomen --> abdominal pain --> haematuria --> lethargy --> fever --> hypertension --> weight loss

Answer 551

Ultrasound of the kidneys --> CT/MRI to stage the tumour --> Biopsy to identify the histology and make a definitive diagnosis

Answer 552

--> Surgical excision of tumour along with kidney - nephrectomy --> Adjuvant chemotherapy or radiotherapy

Answer 553

Early stage tumours with favourable histology hold a good chance of cure Metastatic disease has a poorer diagnosis

Answer 554

One of the top five causes of cancer in children Tumours arise from the neural crest tissue of the adrenal medulla most common and the sympathetic nervous system Median age of onset is 20 months

Answer 555

Abdominal mass pallor, weight loss - , myelosuppression - bone metastasis - anaemia, thrombocytopaenia and leukopenia Bone pain, limp - bone metastasis hepatomegaly paraplegia - spinal cord compression proptosis Horner syndrome

Answer 556

CT scan - Renal mass adjacent to spinal nerve roots confirms diagnosis Elevated catecholamine breakdown products VMA and HMA Biopsy FBC - thrombocytopaenia, leukopenia, anaemia calcification may be seen on abdominal X-ray

Answer 557

Most common ocular malignancy in children average age of diagnosis is 18 months

Answer 558

--> Autosomal dominant inheritance pattern --> Caused by a loss of function of the retinoblastoma tumour suppressor gene on chromosome 13 --> Around 10% of cases are hereditary

Answer 559

--> Absent red-reflex, replaced by a white pupil (leukocoria) most common presenting symptom --> strabismus --> visual problems

Answer 560

--> Enucleation is not the only option --> Depending on how advanced the tumour is other options include external beam radiation therapy, chemotherapy and photocoagulation

Answer 561

excellent prognosis with >90% surviving into adulthood

Answer 562

--> type of bone cancer --> usually presents in adolescents and younger adults 10-20 years --> most common bone affected the femur also the tibia and humerus

Answer 563

--> The main presenting feature is persistent bone pain, particularly worse at night , may disturb sleep --> other symptoms that may be present include bone swelling, palpable mass and restricted bone movements

Answer 564

--> NICE - very urgent X-ray within 48 hours with children who have unexplained bone pain or swelling and urgent specialist assessment within 48 hours if abnormalities detected --> X-rays show poorly defined lesion in the bone with destruction of the normal bone and a fluffy appearance - can be periosteal reaction (irritation of the bone lining) described as a sun burst appearance, can be associated soft tissue mass --> blood tests may show raised alkaline phosphatase (ALP) Investigations for staging --> CT/MRI --> Bone scan --> PET scan --> Bone biopsy

Answer 565

--> Surgical resection of the lesion often with limb amputation/ adjuvant chemotherapy after surgery usually improves outcomes --> MDT team for treatment of the tumour --> main complication is pathological bone fractures and metastasis.

Answer 566

--> when a male has an extra X chromosome - 47 XXY

Answer 567

--> Appear as normal males until puberty --> taller height --> wider hips --> gynaecomastia --> weaker muscles --> small testicles --> reduced libido --> shyness --> infertility --> subtle learning dificulties

Answer 568

--> Treatment aims to help with the features of the condition --> Testosterone injections --> improve many of the symptoms --> advanced IVF techniques - have the potential to allow fertility --> Breast reduction surgery - cosmetic gynae --> MDT - speech and language therapy, occupational therapy, physiotherapy, educational support

Answer 569

There is a slight increased risk of: Breast cancer compared with other males (but still less than females) Osteoporosis Diabetes Anxiety and depression

Answer 570

When a female has a single X chromosome - 45 XO O refers to an empty space where the other X chromosome should be

Answer 571

--> Short stature --> Webbed neck --> High arching palate --> Downward sloping eyes with ptosis --> Broad chest with widely spaced nipples --> Cubitus valgus - angle of the forearm at the elbow exaggerated --> Underdeveloped ovaries with reduced function --> Late or incomplete puberty --> Most women are infertile

Answer 572

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

Answer 573

--> Growth hormone therapy can be used to prevent short stature --> Oestrogen and progesterone replacement can help establish female secondary sex characteristics, regulate the menstrual cycle, and prevent osteoporosis --> Fertility treatment can increase the chances of becoming pregnant

Answer 574

Trisomy 18 - syndrome varies in severity and affects almost all areas of the body resulting in dysmorphic features and learning disability

Answer 575

--> micrognathia - undersized lower jaw --> low set ears --> rocker bottom feet --> overlapping fingers

Answer 576

--> trisomy 13 - results in dysmorphic features, structural abnormalities and LD - rocher bottom feet

Answer 577

Microcephaly, small eyes rocker bottom feet cleft lip/palate polydactyly scalp lesions

Answer 578

Caused by mutation in the Fragile X mental retardation 1 gene on the X chromosome - males always affected as females have a sapre copy of the gene affected --> may result from de novo mutation

Answer 579

Fragile X syndrome usually presents with a delay in speech and language development. Other features are: Intellectual disability macrocephaly Long, narrow face Large ears Large testicles after puberty Hypermobile joints (particularly in the hands) Attention deficit hyperactivity disorder (ADHD) Autism Seizures

Answer 580

--> Genetic condition caused by a loss of function of the UBE3A gene, the copy of the gene that is inherited from the mother --> deletion on chromosome 15

Answer 581

--> unusual fascination with water --> happy demeanor --> widely spaced teeth --> delayed development/ LD/ severe delay or absence of speech development --> possibly seizures --> hand flapping --> microcephaly

Answer 582

--> genetic condition in which there is a loss of functional genes on the proximal arm of chromosome 15 from the father

Answer 583

--> Constant insatiable hunger that leads to obesity --> Poor muscle tone as an infant --> hypogonadism

Answer 584

--> Dieticians very important role --> MDT approach --> NICE encourages growth hormone aimed at improving muscle development and body composition

Answer 585

Genetic condition - number of different genes that cause Noonan syndrome --> Majority of cases are inherited in an autosomal dominant way

Answer 586

Hypertelorism (wide space between the eyes) Webbed neck Short statire Pulmonary stenosis

Answer 587

Congenital heart disease, 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 588

--> Congenital heart disease and often patients require corrective heart surgery

Answer 589

--> caused by deletion of genetic material on one copy of chromosome 7

Answer 590

--> Very sociable personality --> Starbusrt eyes --> short stature --> LD --> wide mouth with a big smile --> supravalvular aortic stenosis --> hypercalcemia

Answer 591

--> MDT approach --> Echocardiograms and blood pressure monitoring for aortic stenosis --> Low calcium diet

Answer 592

Trisomy 21 - gives rise to characteristic dysmorphic features and associated with many conditions

Answer 593

--> Hypotonia (reduced muscle tone) --> Brachycephaly (small head with a flat back) --> Short neck --> Short stature --> Flattened face and nose --> Prominent epicanthic folds --> Upward sloping palpebral fissures --> Single palmar crease

Answer 594

--> 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 595

--> All women offered antenatal screening to decide which women need more invasive tests for a diagnosis --> Combined test - first line - 11 to 14 weeks gestation - results from ultrasound and maternal blood tests - US measures nuchal translucency - thickness of the back of the neck of the fetus, maternal blood tests - beta - HCG - higher result indicates a greater risk and PAPPA a lower result indicates a greater risk --> triple test - 14-20 weeks gestation - only maternal blood test - beta HCG - higher gives higher risk, AFP - low results indicates a greater risk and serum oestriol - a lower result indicates a greater risk --> Quadruple test - 14 to 20 weeks and identical to triple wil maternal blood for inhibin-A - greater inhibin-A gives a greater risk

Answer 596

--> more invasive testing --> amniocentesis - amniotic fluid is aspirated and later in pregnancy is safer --> Chronic villus sampling - ultrasound-guided biopsy of the placenta - can be done earlier in pregnancy

Answer 597

--> blood test from mother --> contains fragments of DNA where some comes from the placenta --> can be analysed and detect conditions such as Downs

Answer 598

--> MDT approach 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 599

genetic condition which causes brittle bones that are prone to fractures --> caused by a range of genetic mutations that affect the formation of collagen

Answer 600

--> presents with recurrent and inappropriate fractures --> hypermobility --> blue/grey sclera -->triangular face --> short stature --> deafness from early adulthood --> dental problems - formation of teeth --> Bone deformities such as bowed legs and scoliosis --> joint and bone pain

Answer 601

--> clinical diagnosis --> X-rays can be helpful for fractures and deformities --> genetic testing is possible

Answer 602

--> bisphosphonates - increase bone density --> Vitamin D supplementation to prevent deficiency --> management through MDT team with physiotherapy and occupational/ peadiatricians/ orthopaedic surgeons/ specialist nurses for advice and support and social workers

Answer 603

A condition affecting children where there is defective bone mineralisation and this causes soft and deformed bones. In adults the same process is called osteomalacia

Answer 604

--> Caused by a deficiency of Vit D or calcium --> A rare form of rickets caused by genetic defects that result in low phosphate in the blood called hereditary hypophosphataemic rickets - X-linked dominant

Answer 605

Vitamin D is a hormone created from cholesterol by the skin in response to UV radiation. Patients with darker skin require a longer period of sun exposure to generate the same quantity of vitamin D. A standard diet contains inadequate levels of vitamin D to compensate for a lack of sun exposure. Reduced sun exposure without vitamin D supplementation leads to vitamin D deficiency. Patients with malabsorption disorders (such as inflammatory bowel disease) are more likely to have vitamin D deficiency. The kidneys are essential in metabolising vitamin D to its active form, therefore vitamin D deficiency is common in chronic kidney disease. Vitamin D is essential in calcium and phosphate absorption from the intestines and kidneys. Vitamin D is also responsible for regulating bone turnover and promoting bone reabsorption to boost the serum calcium level. 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 causes 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 606

Patients with vitamin D deficiency and rickets may not have any symptoms. Potential symptoms are: --> Lethargy --> Bone pain --> Swollen wrists --> Bone deformity --> Poor growth --> Dental problems --> Muscle weakness --> Pathological or abnormal fractures Bone deformities that can occur in rickets include: --> 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 607

--> Darker skin --> low exposure to sunlight --> live in colder climates --> spend majority of time indoors

Answer 608

--> Serum 25-hydroxyvitamin D is the laboratory investigation for vitamin D. A result of less than 25 nmol/L establishes a diagnosis of vitamin D deficiency, which can lead to rickets. --> X-ray is required to diagnose rickets. X-rays may also show osteopenia (more radiolucent bones). Other investigation results include: --> Serum calcium may be low --> Serum phosphate may be low --> Serum alkaline phosphatase may be high --> Parathyroid hormone may be high NICE clinical knowledge summaries suggest additional investigations to look for other pathology: --> Full blood count and ferritin, for iron deficiency anaemia Inflammatory markers such as ESR and CRP, for inflammatory conditions --> Kidney function tests, for kidney disease --> Liver function tests, for liver pathology -->Thyroid function tests, for hypothyroidism --> Malabsorption screen such as anti-TTG antibodies, for coeliac disease --> Autoimmune and rheumatoid tests, for inflammatory autoimmune conditions

Answer 609

--> Prevention is the best management --> Breastfed babies are at higher risk of Vit D deficiency as formula feeds are fortified with Vit D/ breastfeeding women and all children should take Vit D supplements --> Children with Vit D deficiency can be treated with Vitamin D (ergocalciferol) --> Children with features of rickets should be referred to a paediatrician - Vitamin D and calcium supplementation is used to treat rickets

Answer 610

--> Sometimes referred to as irritable hip --> caused by temporary irritation and inflammation in the synovial membrane of the joint --> most common cause of hip pain in children aged 3-10 years --> often associated with a recent URTI --> children with transient synovitis typically do not have a fever. Children with joint pain and a fever need urgent management for septic arthritis

Answer 611

Symptoms of transient synovitis often occur within a few weeks of a viral illness. They present with acute or more gradual onset of: --> Limp --> Refusal to weight bear --> Groin or hip pain --> Mild low grade temperature --> Children with transient synovitis should be otherwise well. They should have normal paediatric observations and no signs of systemic illness. When other signs are present, consider alternative diagnoses.

Answer 612

General management of transient synovitis is symptomatic, with simple analgesia to help ease the discomfort. The challenge is to establish the correct diagnosis and exclude other significant pathology, particularly septic arthritis. --> children aged 3-9 with symptoms suggestive of transient synovitis may be managed in primary care if the limp is present for less than 48 hours and other wise well with safety net for fever

Answer 613

--> usually affects a single joint - often a knee or a hip --> rapid onset of hot, red, swollen and painful joint --> refusing to bear weight --> stiffness and reduced range of motion --> systemic symptoms such as fever, lethargy and sepsis --> can be subtle in young children so always consider as differential in joint problems

Answer 614

--> infection within the joint, can occur at any age --> emergency as the infection can quickly begin to destroy the joint and cause serious systemic illness --> common and important complication of joint replacement

Answer 615

--> Staphylococcus aureus - most common --> Neisseria gonorrhoea - sexually active teenagers --> Group A streptococcus ( streptococcus pyogenes) --> Haemophillus influenzae --> E.Coli

Answer 616

Transient sinovitis Perthes disease Slipped upper femoral epiphysis Juvenile idiopathic arthritis

Answer 617

Have a low threshold for treating a patient for septic arthritis until it has been excluded with examination of the joint fluid. Be particularly cautious with immunosuppressed patients. Patients with suspected septic arthritis require admission to hospital and involvement of the orthopaedic team. The joint should be aspirated prior to giving antibiotics where possible. Send the sample for gram staining, crystal microscopy, culture and antibiotic sensitivities. The joint fluid may be purulent (full of pus). The gram stain will come back quite quickly and may give a clue about the organism. The full culture will take longer. Empirical IV antibiotics should be given until the microbial sensitivities are known. Antibiotics are usually continued for 3 to 6 weeks in total when septic arthritis is confirmed. The choice of antibiotic depends on the local guidelines. Patients may require surgical drainage and washout of the joint to clear the infection in severe cases

Answer 618

--> Infection in the bone and bone marrow --> typically occurs in the metaphysis of the long bones --> most common bacteria staphylococcus aureus --> Chronic osteomyelitis - slow growing infection with slow symptoms and acute presents more quickly with an acutley ill child --> infection can be introduced directly to the bone through open fractures or through the blood from skin or gums anywhere else

Answer 619

Osteomyelitis is more common in boys and children under 10 years. There is often a risk factor that predisposes the child to developing osteomyelitis: Open bone fracture Orthopaedic surgery Immunocompromised Sickle cell anaemia HIV Tuberculosis

Answer 620

Osteomyelitis can present acutely with an unwell child, or more chronically with subtle features. Signs and symptoms are: Refusing to use the limb or weight bear Pain Swelling Tenderness They may be afebrile, or may have a low grade fever. Children with acute osteomyelitis may have a high fever, particularly if it has spread to the joint causing septic arthritis

Answer 621

Xrays are often the initial investigation, but can be normal in osteomyelitis. MRI is the best imaging investigation for establishing a diagnosis. A bone scan is an alternative. Blood tests will show raised inflammatory markers (CRP and ESR) and white blood cells in response to the infection. Blood culture is important in establishing the causative organism. A bone marrow aspiration or bone biopsy with histology and culture may be necessary

Answer 622

Treatment requires extensive and prolonged antibiotic therapy. They may require surgery for drainage and debridement of the infected bone.

Answer 623

--> Disruption of blood flow to the femoral head causing avascular necrosis --> affects the epiphysis of the femur distal to the growth plate --> occurs in children aged 4-12 years, mostly between 5-8 years and is more common in boys --> idiopathic, meaning there is no clear cause or trigger for the avascular necrosis. One theory suggests that repeated mechanical stress to the epiphysis may interrupt the blood supply. --> Over time there is revascularisation or neovascularisation and healing of the femoral head. There is remodeling of the bone as it heals. The main complication is a soft and deformed femoral head, leading to early hip osteoarthritis. This leads to an artificial total hip replacement in around 5% of patients.

Answer 624

Slow-onset pain in the groin and hip Limp restricted hip movements referred pain to the knee no history of trauma - if the pain is triggered by minor trauma then think about slipped femoral epiphysis - particularly in older children

Answer 625

The initial investigation of choice in Perthes disease is an xray, however this can be normal. Other investigations that can be helpful in establishing the diagnosis are: Blood tests are typically normal, particularly inflammatory markers that are used to exclude other causes Technetium bone scan MRI scan

Answer 626

The severity of Perthes disease varies between patients. Initial management in younger and less severe disease is conservative. The aim of management 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 used in severe cases, older children or those that are not healing. The aim is to improve the alignment and function of the femoral head and hip.

Answer 627

Where the head of the femur slips along the growth plate --> more common in boys and typically presents aged 8-15 --> more common in obese children

Answer 628

--> typical presentation - adolescent, obese male undergoing a growth spurt, may be history of minor trauma that triggers the onset of symptoms, suspect SUFE if the pain is disproportionate to the severity of the trauma --> hip, groin, thigh or knee pain --> restricted range of hip movement - restricted internal rotation of the hip --> painful limp --> restricted movement in the hip

Answer 629

--> initial X-ray --> blood tests - exclude inflammatory markers for joint pain --> technetium bone scan --> CT/MRI

Answer 630

Surgery required to return the femoral head to the correct position and fix it to prevent further slippage

Answer 631

--> inflammation at the tibial tuberosity where the patella ligament inserts --> common cause of anterior knee pain in adolescent --> more common in males and 10-15 is common --> usually unilateral but can be bilateral

Answer 632

--> patella tendon inserts into the tibial tuberosity --> tibial tuberosity is at the epiphyseal growth plate --> stress from jumping, running and other movements at the same time as growth in the epiphyseal plate results in inflammation on the tibial epiphyseal plate. --> multiple small avulsion fractures where the patella ligament pulls away tiny pieces of bone --> leads to growth of the tibial tuberosity and leads to a visible lump below the knee --> initially tender due to inflammation but as it heals it becomes hard and non-tender

Answer 633

Osgood-Schlatter disease presents with a 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

Answer 634

Initial management focuses on reducing the pain and inflammation. Reduction in physical activity Ice NSAIDS (ibuprofen) for symptomatic relief Once symptoms settle, stretching and physiotherapy can be used to strengthen the joint and improve function.

Answer 635

--> Patient usually left with a hard boney lump on their knee --> rare complication is a full avulsion fracture where the tibial tuberosity - requires surgery

Answer 636

Structural abnormality in the hips caused by abnormal development of the fetal bones during pregnancy --> leads to instability in the hips and a tendency or potential for subluxation or dislocation --> persist into adulthood leading to weakness and early degenerative changes with gait abnormalities

Answer 637

First-degree family history Breech presentation from 36 weeks onwards Breech presentation at birth if 28 weeks onwards Multiple pregnancies

Answer 638

during the newborn examinations or later when the child presents with hip asymmetry, reduced range of movement in the hip or a limp

Answer 639

--> neonatal examination - NIPE --> 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 --> Clicking is a common examination finding and is usually due to soft tissue moving over bone. When this is the cause an ultrasound will be normal. Isolated clicking without any other features does not usually require an ultrasound unless there are other concerns. Clunking is more likely to indicate DDH and requires an ultrasound.

Answer 640

Ortolani test is done with the baby on their back with the 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 641

--> when suspected - ultrasound - all children with risk factors or examination findings should have an ultrasound --> X-rays can be helpful in older children

Answer 642

Treatment typically involves a Pavlik harness if the baby presents at less than 6 months of age. The Pavlik harness is fitted and kept on permanently, adjusting for the growth of the baby. The 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 child is regularly reviewed and 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 643

--> refers to a condition affecting children and adolescents where autoimmune inflammation occurs in the joints. --> diagnosed when there is arthritis without any other cause lasting more than 6 weeks and patient under 16

Answer 644

--> joint pain, swelling and stiffness

Answer 645

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

Answer 646

--> Subtle salmon-pink rash --> High swinging fevers Enlarged lymph nodes Weight loss --> Joint inflammation and pain Splenomegaly Muscle pain Pleuritis and pericarditis

Answer 647

Antinuclear antibodies and rheumatoid factors are typically negative. There will be raised inflammatory markers, with raised CRP, ESR, platelets, and serum ferritin.

Answer 648

idiopathic inflammatory arthritis in 5 joins or more

Answer 649

--> tends to be symmetrical and can affect the small joints of the hands and feet as well as large joints --> minimal systemic symptoms, can be mild fever, anaemia, reduced growth, mild unlike systemic JIA --> equivalent of rheumatoid arthritis in adults

Answer 650

--> Most children negative for rheumatoid factor - seronegative --> When rheumatoid factor is positive then its seropositive --> seropositive patients tend to be older children as the disease pattern is more similar to rheumatoid arthritis in adults

Answer 651

--> involves 4 joints or less --> usually single larger joint affected often knee or ankle --> occurs more in girls under the age of 6

Answer 652

anterior uveitis - referred to opthalmologist and follow up

Answer 653

Patients tend not to have any systemic symptoms and inflammatory makers will be normal or mildly elevated. Antinuclear antibodies are often positive, however rheumatoid factor is usually negative.

Answer 654

--> more common in male children over 6 years. --> can be thought of as the paediatric version of the seronegative spondyloarthropathy group of conditions that affect adults. These conditions are ankylosing spondylitis, psoriatic arthritis, reactive arthritis and inflammatory bowel disease-related arthritis. --> Patients have inflammatory arthritis in the joints as well as enthesitis.

Answer 655

--> An enthesis (pleural: entheses) is the point at which the tendon of a muscle inserts into a bone. --> Enthesitis is inflammation of this insertion point. Enthesitis can be caused by traumatic stress, such as through repetitive strain during sporting activities, or can be caused by an autoimmune inflammatory process. An MRI scan of the affected joint can demonstrate enthesitis --> The majority of patients with enthesitis-related arthritis have the HLA B27 gene

Answer 656

--> psoriasis --> IBD --> anterior uveitis --> patients with enthesitis will be tender to localised palpation of the entheses

Answer 657

--> seronegative inflammatory arthritis associated with psoriasis the skin condition. --> The pattern of joint involvement varies. Patients can have symmetrical polyarthritis affecting the small joints similar to rheumatoid, or asymmetrical arthritis affecting the large joints in the lower limb.

Answer 658

--> 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, inflammation of the entheses, which are the points of insertion of tendons into bone

Answer 659

The management should be coordinated by a specialist in paediatric rheumatology, with a specialist multi-disciplinary team. The aim of treatment is to reduce inflammation within the joints, minimise symptoms and maximise function. Medical treatment depends on the severity and response, and involves: --> NSAIDs, such as ibuprofen --> 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 660

--> Normal birth and labour leads to hypoxia --> During contractions the placenta is unable to carry out normal gaseous exchange --> Extended hypoxia leads to anaerobic respiration and bradycardia --> Further hypoxia leads to reduced consciousness and a drop in respiratory effort worsening hypoxia --> Extended hypoxia can lead to hypoxic-ischaemic encephalopathy - cerebral palsy can occur

Answer 661

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

Answer 662

--> Warm the baby - get the baby dry as quick as possible, heat lamps and babies under 28 weeks are placed in a plastic bag and kept under a heat lamp --> Calculate APGAR score within the first 1.5 to 10 minuets while resus continues - indicator of progress after birth --> simulate breathing - drying vigoursly with a towel, placing babies head in a neutral poistion. if gasping check airways for meconium and consider aspiration --> Inflation breaths when baby is not breathing or gasping after failed stimulation - two cycles of five inflation breaths lasting 3 seconds each and if nor response then 30 seconds ventilation breaths and if still no response then chest compressions --> chest compressions - if the HR < 60 despite resuscitation and inflation breaths and performed at 3:1 ratio with ventilation breaths --> babies may benefit from therapeutic hypothermia

Answer 663

--> Appearance (Skin Color): 0: Blue/pale centrally 1: Blue extremities 2: Pink --> Pulse: 0: Absent 1: < 100 2: > 100 --> Grimace (Response to Stimulation): 0: No response 1: Little response 2: Good response --> Activity (Muscle Tone): 0: Floppy 1: Flexed arms and legs 2: Active --> Respiration: 0: Absent 1: Slow/irregular 2: Strong/crying

Answer 664

--> Affects premature neonates, born before the lungs start producing adequate surfactant --> Commonly occurs below 32 weeks --> CXR shows ground glass appearance

Answer 665

Inadequate surfactant leads to high surface tension within alveoli. This leads to atelectasis (lung collapse), as it is more difficult for the alveoli and the lungs to expand. This leads to inadequate gaseous exchange, resulting in hypoxia, hypercapnia (high CO2) and respiratory distress

Answer 666

Antenatal steroids (i.e. dexamethasone) given to mothers with suspected or confirmed preterm labor increases the production of surfactant and reduces the incidence and severity of respiratory distress syndrome in the baby. Premature neonates may need: --> 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 667

Short term complications: Pneumothorax Infection Apnoea Intraventricular haemorrhage Pulmonary haemorrhage Necrotising enterocolitis Long term complications: Chronic lung disease of prematurity Retinopathy of prematurity occurs more often and more severely in neonates with RDS Neurological, hearing and visual impairment

Answer 668

--> Also known as chronic lung disease of prematurity --> occurs in preterm 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 669

Diagnosis is made based on chest xray changes and when the infant requires oxygen therapy after they reach 36 weeks gestational age.

Answer 670

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

Answer 671

Giving corticosteroids (e.g. betamethasone) to mothers that show signs of premature labour at less than 36 weeks gestation can help speed up the development of the fetal lungs before birth and reduce the risk of CLDP. Once the neonate is born the risk of CLDP can be reduced by: Using CPAP rather than intubation and ventilation when possible Using caffeine to stimulate the respiratory effort Not over-oxygenating with supplementary oxygen

Answer 672

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, Babies with CLDP 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. This is very expensive (around £500 per injection) so is reserved for babies meeting certain criteria.

Answer 673

--> Respiratory distress in the newborn as a result of meconium in the trachea

Answer 674

--> post-term deliveries --> history of maternal hypertension, pre-eclampsia, chorioamnionitis and smoking or substance abuse

Answer 675

--> disorder affecting premature babies - part of the bowel becomes necrotic --> life-threatening emergency as perforation can occur and can lead to peritonitis and shock

Answer 676

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

Answer 677

--> Intolerance to feeds --> Vomiting, particularly with green bile --> Generally unwell --> Distended, tender abdomen --> Absent bowel sounds --> Blood in stools --> When perforation occurs there will be peritonitis and shock and the neonate will be severely unwell.

Answer 678

Blood tests: --> Full blood count for thrombocytopenia and neutropenia CRP for inflammation --> Capillary blood gas will show a metabolic acidosis --> Blood culture for sepsis --> Abdominal xray is the investigation of choice for diagnosis. Xrays can show: --> Dilated loops of bowel --> Bowel wall oedema (thickened bowel walls) --> 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 --> Gas in the portal veins

Answer 679

Neonates with suspected NEC need to be nil by mouth with IV fluids, total parenteral nutrition (TPN) and antibiotics to stabilise them. A nasogastric tube can be inserted to drain fluid and gas from the stomach and intestines. NEC is a surgical emergency and requires immediate referral to the neonatal surgical team. Some neonates will recover with medical treatment. 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 680

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

Answer 681

--> they can utilise other fuels such as ketones and lactate --> called transient hypoglycaemia

Answer 682

--> pre-term birth --> maternal DM --> intrauterine growth restriction --> hypothermia --> neonatal sepsis --> inborn errors of metabolism

Answer 683

--> may be asymptomatic autonomic (hypoglycaemia → changes in neural sympathetic discharge) --> 'jitteriness' --> irritable --> tachypnoea --> pallor neuroglycopenic --> poor feeding/sucking --> weak cry --> drowsy --> hypotonia --> seizures other features may include --> apnoea --> hypothermia

Answer 684

Management depends on the severity of the hypoglycaemia and if the newborn is symptomatic asymptomatic --> encourage normal feeding (breast or bottle) monitor blood glucose symptomatic or very low blood glucose -->admit to the neonatal unit intravenous infusion of 10% dextrose

Answer 685

--> congenital condition where there is a split or open section of the upper lip

Answer 686

--> defect exists in the hard or soft palate at the roof of the mouth --> leaves an opening between the mouth and the nasal cavity

Answer 687

--> not life-threatening --> can have problems with feeding, swallowing and speech --> can have psycho-social implications --> cleft palapte can lead children more prone to hearing problems, ear infections and glue ear

Answer 688

Patients should be referred to the local cleft lip services. This involves the specialist multi-disciplinary team: -->Specialist nurses to support and coordinate care --> Plastic, maxillofacial and ENT surgeons --> Dentists --> Speech and language therapists --> Psychologists --> General practitioners The first priority is to ensure the baby can eat and drink. This may involve specially shaped bottles and teats. The specialist nurse will follow the child up through surgery and beyond to ensure good development The 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. Cleft lip surgery is usually performed at 3 months, whilst cleft palate surgery is done at 6 – 12 months.

Answer 689

--> Misalignment of eyes - also known as strabismus, patients can experience double vision

Answer 690

--> When squint occurs in childhood befoer the eyes have fully established connections with the brain --> The misalignment reduces the signal from the less dominant eye --> this results in one eye they use to see (dominant) and one eye they ignore (lazy eye) --> if not treated it can progressivley become more disconnected from the brain and can worsen --> called amblyopia - where the affected eye has become passive and has reduced function compared to the dominant eye

Answer 691

Concomitant squints are due to differences in the control of the extra ocular muscles. The severity of the squint can vary. Paralytic squints are rare. They are due to paralysis in one or more of the extra ocular muscles.

Answer 692

inward positioned squint (affected eye towards the nose)

Answer 693

outward positioned squint (affected eye towards the ear)

Answer 694

upward moving affected eye

Answer 695

downward moving affected eye

Answer 696

Cases of squint in otherwise healthy children are usually idiopathic, meaning there is not a specific underlying cause. Other causes of squint include: Hydrocephalus Cerebral palsy Space occupying lesions, for example retinoblastoma Trauma

Answer 697

General inspection Eye movements Fundoscopy (or red reflex) to rule out retinoblastoma, cataracts and other retinal pathology Visual acuity Hirschberg’s test: shine a pen-torch at the patient from 1 meter away. When they look at it, observe the reflection of the light source on their cornea. The reflection should be central and symmetrical. Deviation from the centre will indicate a squint. Make a note of the affected eye and the direction the eye deviates. Cover test: cover one eye and ask the patient to focus on an object in front of them. Move the cover across to the opposite eye and watch the movement of the previously covered eye. If this eye moves inwards, it had drifted outwards when covered (exotropia) and if it moves outwards it means it had drifted inwards when covered (esotropia).

Answer 698

Up until the age of 8 years the visual fields are still developing, therefore treatment needs to start before 8 years. The earlier the better. Delayed treatment increases the risk of the squint becoming permanent. An occlusive patch can be used to cover the good eye and force the weaker eye to develop. An alternative to the patch may involve using atropine drops in the good eye, causing vision in that eye to be blurred. Management is coordinated by an ophthalmologist. It will be important to treat any underlying pathology, such as cataracts. Refractive errors can be corrected with corrective lenses.

Answer 699

--> Gross motor --> Fine motor and vision --> speech and hearing --> social behaviour and play

Answer 700

--> little or no head lag on being pulled to sit --> babies head control improves

Answer 701

--> pulls self to sitting

Answer 702

--> pulls to standing and crawls

Answer 703

--> cruises and walks with one hand held

Answer 704

--> squats to pick up toy

Answer 705

--> can ride a tricycle using pedals

Answer 706

--> hops on one leg

Answer 707

--> Walks unsupported

Answer 708

Reaches for object Holds rattle briefly if given to hand Visually alert, particularly human faces Fixes and follows to 180 degrees

Answer 709

Holds in palmar grasp Pass objects from one hand to another Visually insatiable, looking around in every direction

Answer 710

Points with finger Early pincer

Answer 711

Good pincer grip Bangs toys together

Answer 712

circular scribble

Answer 713

copies vertical line

Answer 714

Copies circle

Answer 715

Copies cross

Answer 716

Copies square and triangle

Answer 717

--> looks at page and pats book

Answer 718

--> turns pages , several at a time

Answer 719

--> turns pages one at a time

Answer 720

--> cerebral palsy

Answer 721

--> quieten to parents voice

Answer 722

--> Double syllables - adah and erleh

Answer 723

--> says simple words - mama and dada

Answer 724

--> knows and responds to own name

Answer 725

--> combine 2 words

Answer 726

--> vocab of 200 words

Answer 727

--> talks in short sentences 3 to 5 words --> identifies colours

Answer 728

--> asks why, when and how questions

Answer 729

Laughs, enjoys friendly handling

Answer 730

Shy takes everything to mouth

Answer 731

Refers to a child displaying slow development in all developmental domains - could indicate an underlying diagnosis

Answer 732

Down’s syndrome Fragile X syndrome Fetal alcohol syndrome Rett syndrome Metabolic disorders

Answer 733

Cerebral palsy Ataxia Myopathy Spina bifida Visual impairment

Answer 734

--> dyspraxia --> cerebral palsy --> muscular dystrophy --> visual impairment

Answer 735

Specific social circumstances, for example exposure to multiple languages or siblings that do all the talking Hearing impairment Learning disability Neglect Autism Cerebral palsy

Answer 736

Emotional and social neglect Parenting issues Autism

Answer 737

Umbrella term for a condition where there is a tendancy to have seizures

Answer 738

Transient episodes of abnormal electrical activity in the brain many different types of seizures

Answer 739

Seizure free on the minimum anti epileptic medications - ideally monotherapy

Answer 740

--> tonic (muscle tensing) before clonic (muscle jerking) --> may be associate with tongue biting, incontinence, groaning and irregular breathing --> after the seizure there is a prolonged post-ictal period where the person is confused, drowsy and feels irritable or low

Answer 741

First line --> sodium valporate Second line --> lamotrigine or carbamazepine

Answer 742

--> start in the temporal lobe --> affect hearing, speech, memory and emotions --> hallucinations --> memory flashbacks --> Deja vu --> doing strange things on autopilot

Answer 743

--> reverse of tonic clonic --> first line - lamotrigine or carbamazepine --> second line - sodium valporate or levetiracetam

Answer 744

Absence seizures typically happen in children. The patient becomes blank, stares into space and then abruptly returns to normal. During the episode they are unaware of their surroundings and won’t respond. These typically only lasts 10 to 20 seconds.

Answer 745

Most patients (more than 90%) stop having absence seizures as they get older. Management: First line: sodium valproate or ethosuximide

Answer 746

--> Drop attacks --> brief lapse in muscle tone --> no more than 3 mins

Answer 747

First line --> sodium valporate second line --> lamotrigine

Answer 748

--> Sudden brief muscle contractions - like a sudden jump --> patients usually awake --> part of juvenile myoclonic epilepsy

Answer 749

first line --> sodium valporate other options ---> lamotrigine, levetiracetam, topiramate

Answer 750

seizures that occur in children whilst they have a fever

Answer 751

--> not caused by epilepsy or other underlying neurological pathology (such as meningitis or tumours) --> only occur in chidlren between 6 months and 5 years --> do not cause lasting damage --> 1 in 3 will have another febrile convulsion --> having febrile convulsions slightly increases the risk of developing epilepsy in the future

Answer 752

--> Good history - excluding other pathology - vasovagal or febrile convulsions --> EEG - after second tonic-clonic seizure --> MRI brain - diagnose structural problems with the brain such as tumours - consider when its the first seizure under 2 years old, focal seziures, no response to first line anti-epileptics --> ECG - exclude problems witht he heart --> blood electrolytes --> blood glucose - hypoglycaemia and diabetes --> blood cultures, urine cultures and lumbar puncture where sepsis, encepahlitis or meningitis is suspected

Answer 753

sodium valporate

Answer 754

lamotrigine

Answer 755

--> medical emergency --> seizures lasting more than 5 mins or 2 or more seizures without regaining concioussness

Answer 756

--> Secure the airway --> Give high-concentration oxygen --> Assess cardiac and respiratory function --> Check blood glucose levels --> Gain intravenous access (insert a cannula) --> IV lorazepam, repeated after 10 minutes if the seizure continues If the seizures persist the final step is an infusion of IV phenobarbital or phenytoin. At this point intubation and ventilation to secure the airway needs to be considered, along with transfer to the intensive care unit if appropriate.

Answer 757

Buccal midazolam rectal diazepam