Paediatrics Flashcards

Question

Where can tricuspid regurgitation be heard?

Answer 1

tricuspid area --> fifth intercostal space, left sternal border

Answer 2

-all diastolic murmurs -all pan-systolic murmurs -loud murmurs -continuous murmurs -if there are associated cardiac abnormalities -abnormal signs & symptoms --> shortness of breath, tiredness/fatigue, FTT, cyanosis, finger clubbing, hepatomegaly

Answer 3

left lower sternal border

Answer 4

aortic area --> second intercostal space, right sternal border pulmonary stenosis --> pulmonary area, second intercostal space, left sternal border

Answer 5

pulmonary area --> second intercostal space, left sternal border

Answer 6

fourth intercostal space, left sternal border

Answer 7

Left --> right shunt Blood moves from the left atrium to right atrium due to the high pressure in the left atrium which means blood continues to flow to the lungs to be oxygenated and the patient does no become cyanotic. However leads to overload on the RHS of the heart and right heart failure/pulmonary hypertension.

Answer 8

Ostium secondum (septum secondum fails to fully close leaving a hole in the wall) Patent foramen ovale (where the foramen ovale fails to fully close) Ostium primum (where septum primum fails to fully close and leads to atrioventricular valve defects)

Answer 9

Blood enters the foetal circulation from the umbilical cord, enters the liver and reaches the IVC where it travels to the right atrium. Blood is then shunted from the right atrium to the left atrium via the foramen ovale (bypassing the undeveloped lungs) into the left atrium and then into the foetal circulation as oxygenated blood to supply the rest of the foetus.

Answer 10

When the baby takes its first breath, the lungs and pulmonary arterial circulation become fully functional and the pressure on the right side of the heart drops. Pressure on the left side of the heart is now greater, and so blood in the left atrium pushes the valve of the foramen ovale against the muscular septum secondum and closing the passage between the two atria At around 3 months after birth, the septum secondum and the valve of the foramen ovale fuse to form the solid intratrial septum

Answer 11

most children are asymptomatic and may very rarely present with heart failure

Answer 12

most children with small defects are asymptomatic larger defects may lead to congestive heart failure or children may present with recurrent chest infections

Answer 13

Down's syndrome (trisomy 21)

Answer 14

an ejection systolic murmur a fixed and widely split second heart sound --> because the blood is flowing from the left atrium into the right atrium, increasing the volume of the blood that the right ventricle has to empty before the pulmonary valve can close

Answer 15

referral to a paediatric cardiologist if small ---> watch and wait Surgical correction --> transvenous catheter closure or open heart surgery

Answer 16

A congenital hole in the septum wall between the two ventricles

Answer 17

Due to the increased pressure in the left ventricle vs the right, blood flows from left to right. Blood is still flowing around the lungs before entering the rest of the body so they remain acyanotic. A left to right shunt leads to right sided overload, right heart failure and increased flow into the pulmonary vessels. A left to right shunt leads to right sided overload and right heart failure and increased flow into the pulmonary vessels. If this continues, the shunt can reverse due to the pressure being higher in the right than the left leading to cyanosis (Eisenmenger syndrome).

Answer 18

Asymptomatic

Answer 19

Loud pansystolic murmur at lower left sternal edge in the third and fourth intercostal spaces

Answer 20

CXR: normal ECG: normal Echocardiogram: can be seen. Doppler echocardiography can show the haemodynamic effects

Answer 21

They will close spontaneously.

Answer 22

Heart failure with breathlessness and FFT after 1 week old Recurrent chest infections

Answer 23

Tachypnoea, tachycardia and enlarged liver from heart failure soft pansystolic or no murmur (indicating large defect) apical mid diastolic murmur

Answer 24

CXR: cardiomegaly, enlarged pulmonary arteries, increased pulmonary vascular markings, pulmonary oedema (signs of heart failure) ECG: biventricular hypertrophy

Answer 25

Drugs: therapy for heart failure with diuretics combined with captopril Surgery: at 3-6months. transvenous catheter closure via femoral vein.

Answer 26

Normally congenital structural. -large left --> right shunt eg large VSD -left sided obstructive lesions eg coarctation of aorta -cardiomyopathy -myocarditis eg viral/rheumatic fever -endocarditis -myocardial ischaemia eg kawasaki -tachyarrhythmias eg supraventricular tachycardia -acute HTN -high output eg severe anaemia, thyrotoxicosis

Answer 27

breathlessness --> especially on feeding or exertion sweating poor feeding recurrent chest infections

Answer 28

poor weight gain/FTT tachypnoea tachycardia heart murmur/gallop rhythm enlarged heart hepatomegaly cool peripheries

Answer 29

hypoplastic left heart syndrome critical aortic valve stenosis severe coarctation of the aorta interruption of the aortic arch

Answer 30

ventricular septal defect atrioventricular septal defect large persistent ductus arteriosus

Answer 31

Eisenmenger syndrome rheumatic heart disease cardiomyopathy

Answer 32

CXR: cardiac enlargement, oedema in the lungs Echocardiography: congenital heart defects ABG: metabolic acidosis/reduced PO2 ECG: not diagnostic Serum electrolytes: hyponatraemia due to water retention

Answer 33

Underlying cause must be treated Supportive care --> -bed rest and nurse in a semi upright position -supplemental oxygen -diet: sufficient calorie intake -diuretics -angiotensin converting enzyme inhibitors

Answer 34

Into cyanotic or acyanotic

Answer 35

VSD ASD PDA pulmonary valve stenosis coarctation of the aorta aortic stenosis hypoplastic left heart syndrome hypertrophic obstructive cardiomyopathy dextrocardia

Answer 36

tetralogy of fallot transposition of the great arteries tricuspid atresia total anomalous pulmonary drainage

Answer 37

patients are born with a narrow aortic valve ---> they have 1-4 leaflets on their valve. Supravalvular form or aortic stenosis is associated with Williams syndrome

Answer 38

mild stenosis is normally asymptomatic neonates --> severe defects may present heart failure and collapse older children --> sudden unexpected syncope and chest pain on exertion. symptoms are typically worse on exertion

Answer 39

ejection systolic murmur heard loudest at the aortic area (second intercostal space) radiates to the carotids may have palpable thrill, ejection click, slow rising pulse

Answer 40

gold standard investigation is echocardiogram Patients need regular follow up under paediatric cardiologist with echocardiograms, ECG and exercise testing to monitor progress of the condition Treatment: percutaneous balloon aortic valvoplasty, surgical aortic valvotomy, valve replacement

Answer 41

Coarctation of the aorta is a congenital condition where there is narrowing of the aortic arch, usually around the ductus arteriosus. The severity of the coarctation can vary from mild to severe. It is often associated with underlying genetic syndromes eg Turners Syndrome

Answer 42

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 43

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 by the arteries that come before the narrowing - may be a systolic murmur heard below the left clavicle and below the left scapula - 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 reduced flow to the left subclavian artery - underdevelopment of the legs

Answer 44

In mild cases, patients can live symptom free until adulthood without requiring surgical management. In severe cases, patients will require emergency surgery shortly after birth --> prostaglandin E is used to keep the ductus arteriosus open while waiting for surgery - surgery corrects the coarctation and ligates the ductus arteriosus

Answer 45

A condition where the attachments of the aorta & pulmonary trunk to the heart are swapped. This means the right ventricle pumps blood into the aorta and the left ventricle pumps blood into the pulmonary. During pregnancy the foetus develops normally due to foetal circulation/placenta. After birth the condition is immediately life threatening as there is no connection between the systemic circulation and the pulmonary circulation that allows blood flowing through the body an opportunity to get oxygenated in the lungs. Immediate survival depends on a shunt between the systemic & pulmonary circulation eg PDA, ASD or VSD

Answer 46

The defect is often diagnosed during pregnancy with antenatal ultrasound scans. If not detected during pregnancy, it will present with cyanosis at or within a few days of birth. A PDA or VSD can initially compensate by allowing blood to mix between the systemic circulation and the lungs --> within a few weeks of life they will develop respiratory distress, tachycardia, poor feeding, poor weight gain and sweating.

Answer 47

When there is a VSD, will allow some mixing of blood between the 2 systems and provide some time for definitive treatment A prostaglandin infusion can be used to maintain the ductus arteriosus A balloon septostomy creates and artificial ASD allowing blood returning from the lungs to flow to the RHS of the heart Definitive management is open heart surgery

Answer 48

An auto-immune condition that develops in response to infection with group A beta-haemolytic streptococcus, normally seen in children aged 5-15 years

Answer 49

typically caused by streptococcus pyogenes causing tonsillitis but can be any group A beta haemolytic streptococcal bacteria. The immune system creates antibodies which target the bacteria but also match antigens on the body cells eg muscle cells in the myocardium Leads to a type 2 hypersensitivity reaction

Answer 50

Jones Criteria

Answer 51

Jones criteria --> two major or one major & one minor criteria plus supporting evidence of preceding group A streptococcal infection

Answer 52

Pancarditis --> endocarditis: significant murmur, valvular dysfunction. Myocarditis: may lead to HF. myocarditis: pericardial friction rub, pericardial effusion, tamponade Polyarthritis --> ankles, knees and wrists tended, moderate swelling and redness lasting <1 week Sydenham chorea --> involuntary movements and emotional lability lasting 3-6 months Erythema marginatum --> early manifestation, rash on trunk and limbs, pink macules spreading outwards Subcutaneous nodules --> rare, painless and pea sized hard nodules

Answer 53

fever polyarthralgia history of rheumatic fever raised ESR/CRP prolonged pr interval on ECG evidence of streptococcal infection antistreptococcal antibody titres (ASO)

Answer 54

anti-streptococcal antibodies are antibodies against streptococcus and indicate a recent strep infection After acute infections levels are usually: -rise over 2-4 weeks -peak around 3-6 weeks -gradually fall over 3-12months

Answer 55

bed rest anti-inflammatory drugs eg aspirin corticosteroids for 2-3 weeks diuretics/ACEi if in HF antibiotics eg penicillin for 10 days long term therapy eg prophylactic abx

Answer 56

recurrent bouts with associated carditis result in scarring and fibrosis of the heart valves. Valves may become incompetent and need replacement

Answer 57

a condition caused by the infection of the endocardium by bacteria (rarely fungus), most commonly affects the heart valves. Also commonly occurs at sites of previous damage.

Answer 58

valvular damage: -previous rheumatic heart disease -age related valvular degeneration -prosthetic valve recent dental work/poor dental hygiene IV drug use --> more chance of multiple organisms, tricuspid valve is usually affected on the right side

Answer 59

streptococcus viridans staphylococcus aureus group streptococcus

Answer 60

children with turbulent blood flow PDA or VSD previous rheumatic fever coarctation of the aorta

Answer 61

symptoms are mild in the early stages non specific symptoms of myalgia and arthralgia, headache, weight loss, night sweats, prolonged fever over several months

Answer 62

pallor/anaemia nail bed splinter haemorrhages osler's nodes janeway lesions finger clubbing (late) necrotic skin lesions splenomegaly haematuria (microscopic) roth spots (retinal infarcts) heart murmurs

Answer 63

Blood cultures --> multiple samples taken over 48-72hours from multiple sites ECHO --> identify damage done to the heart

Answer 64

modified duke's criteria

Answer 65

Positive blood cultures evidence of endocardial involvement eg positive ECHO findings showing unusual blood flow, unusual material or new valve regurgitation

Answer 66

Fever >38 Predisposition to IE eg IV drug user, congenital heart condition, prosthetic valve Unusual echo Immunological features present eg osler's nodes, roth spots, rheumatoid factor, glomerulonephritis Blood cultures positive but major criteria not satisfied vascular abnormalities eg embolism, aneurysm, infarcts, conjunctival haemorrhage

Answer 67

IE definitely present: 2 major criteria present OR 1 major, 3 minor OR 5 minor IE possibly present: 1-4 minor criteria present AND no other diagnosis more likely

Answer 68

Acute presentation: flucloxacillin, gentamycin Subacute presentation: benzylpenicillin, gentamycin Prosthetic valve/resistant organism: triple therapy of vancomycin, gentamycin, rifampicin

Answer 69

valve replacement Indications for surgery --> resistance to antibiotic treatment, fungal disease resistant to treatment, IE causing embolic events, IE with CHF, severe structural damage on ECHO

Answer 70

The most common cause of acquired heart disease in the UK. It is a systemic vasculitis.

Answer 71

A clinical diagnosis -high fever present for at least 5 days >38.5, in the presence of 4/5 of the following criteria --> Conjunctivitis Changes to the lips/tongue --> dry lips, fissuring of the lips, strawberry tongue Cervical lymphadenopathy Changes to the extremities --> redness/swelling to the palms and soles or peeling of fingers and toes

Answer 72

Renal: urethritis MSK: arthralgia/arthritis CNS: aseptic meningitis GI: D&V Cardia: CHF, myocarditis, acute MI Coronary aneurysms

Answer 73

Haematology: leucocytosis, thrombocytosis Coagulation: increased coagulability ESR/CRP elevated Raised AST/ALT ECG usually normal ECHO aneurysms may be seen 7-21 days post onset of fever

Answer 74

High dose IV immunoglobulin 2g/kg over 12hour as a single infusion Aspirin 30-50mg/kg/day

Answer 75

When a male has an addition X chromosome so they are 47, XXY

Answer 76

usually diagnosed in childhood where there is: -clumsiness, learning difficulties, self obsessed behaviour In adulthood: -taller than average, long limbs, gynaecomastia & infertility, inc risk of leg ulcers and breast cancer

Answer 77

testosterone injections may improve symptoms related to sexual development advanced IVF techniques to allow fertility MTD input: -speech & language therapy -occupational therapy -physiotherapy -educational support

Answer 78

Not directly inherited --> occurs due to the egg or sperm having an extra X chromosome

Answer 79

When a female has a single X chromosome making them 45, XO

Answer 80

foetus: generalised oedema and fat pad neonates: may appear normal, peripheral oedema, webbed neck, low posterior hairline, shortening of the 4th metacarpal, nipples widely spaced, coarctation of the aorta neuro signs: may be none, some slight altering of social skills or other high functional skills

Answer 81

short stature ovarian defects hypothyroidism pigmented nodules pigmented moles wide carrying angle of the arm recurrent otitis media delayed puberty

Answer 82

coarctation of the aorta

Answer 83

growth hormones at age 3 if epiphyseal plates haven't fused oestrogen at pubertal age to ensure development of secondary sexual characteristics

Answer 84

A syndrome caused by deletion of genetic material on one copy of chromosome 7, usually a result of random deletion around conception rather than being inherited from an affected parent

Answer 85

broad forehead starbust eyes flattened nasal bridge long philtrum wide mouth with widely spaced teeth small chin very sociable & trusting personality mild learning disability

Answer 86

supravalvular aortic stenosis ADHD hypertension hypercalcaemia

Answer 87

no cure, focus on MDT approach and supporting the patient and their family ECHO and BP monitoring to assess for aortic stenosis and htn

Answer 88

by FISH study for 7q11 microdeletion

Answer 89

An autosomal dominant disorder, most caused by mutation in the PTPN11 gene on chromosome 12q

Answer 90

short stature broad forehead downward sloping eyes with ptosis hypertelorism low set ears webbed neck widely spaced nipples

Answer 91

congenital heart disease --> pulmonary valve stenosis, hypertrophic cardiomyopathy and ASD undescended testes learning disability bleeding disorders lymphoedema increased risk of leukaemia and neuroblastoma

Answer 92

The patient has 3 copies of chromosome 21- it is the most common autosomal trisomy

Answer 93

usually presents at birth -generalised hypotonia and marked head lag -small low set ears -up slanting eyes -small head with flat back -short neck -short stature -flattened face and nose -prominent epicanthic folds -single palmar crease

Answer 94

-learning disability -recurrent otitis media -deafness due to eustachian tube abnormalities -visual problems -hypothyroidism -cardiac defects eg ASD, VSD, patent ductus arteriosus and tetralogy of fallot -leukaemia -dementia

Answer 95

Screening tests give a risk score for having Down's Syndrome Combined test: 14-20weeks -USS measuring thickness of the back of the head of the foetus (nuchal translucency) >6mm may be indicative of Down Syndrome -maternal blood tests of beta HHCG (high results = greater risks) and pregnancy associated plasma protein A (PAPPA) lower result =greater risk Triple test: 14-20weeks -involves maternal blood tests of beta HCG, alpha fetoprotein (AFP) low result = greater risk, serum oestriol lower result = greater risk

Answer 96

When the screening tests provide a risk of more than 1 in 150, woman is offered testing -amniocentesis: US guided aspiration of some amniotic fluid OR -chorionic villus sampling: US guided biospy of placental tissue done early on in pregnancy <15weeks

Answer 97

A maternal blood test --> maternal blood contains fragments of foetal DNA & placental tissue which can be analysed to detect Down's syndrome

Answer 98

Care from MDT --> OT, S&L, physio, dietician, paediatrician, GP, health visitors, cardiology for congenital heart problems, ENT, audiology, opticians, social services

Answer 99

an infection of the peri-orbital tissue/skin

Answer 100

Superficial injury eg insect bite, conjunctivitis, infection of the skin eg H.Influenzae (if unvaccinated) or S Aureus Can be secondary to URTi or sinusitis --> contiguous spread from surrounding structures

Answer 101

eyelid oedema and erythema with no orbital signs eg full ocular motility, no drooping eyelids, normal vision --> may also be systemically unwell if cause is URTI or sinusitis eg with fever

Answer 102

5-7 day course of IV antibiotics

Answer 103

orbital cellulitis

Answer 104

Patients with orbital cellulitis will have restricted and painful eye movements, their visual acuity and colour vision may be reduced, loss of red colour vision is the first sign of optic neuropathy

Answer 105

Swabs and cultures of the conjunctiva and nasopharynx Bloods: show raised WBC (neutrophilia) and CRP raised Contrast CT of orbit, sinuses and brain

Answer 106

Involvement of ENT and ophthalmology particularly if red colour vision affected and painful eye movements 7-10 day course of IV antibiotics

Answer 107

Autoimmune inflammation of the joints lasting >6 weeks in patients under 16

Answer 108

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

Answer 109

subtle salmon pink rash high swinging fevers enlarged lymph nodes weight loss joint inflammation and pain splenomegaly muscle pain pleuritis and pericarditis

Answer 110

Blood tests: antinuclear antibodies and rheumatoid factors are typically negative raised CRP, ESR, platelets and serum ferritin

Answer 111

Macrophage activation syndrome

Answer 112

involves idiopathic inflammatory arthritis of 5 or more joints, tends to be symmetrical and can affect small and large joints. Rarely systemic symptoms Can be seronegative (most children) Or seropositive (older children and adolescents --> similar to rheumatoid arthritis in adults)

Answer 113

idiopathic inflammatory arthritis involving 4 joints or less, normally affects the larger joints and seen more commonly in girls under the age of 6 classic associated feature of anterior uveitis with no systemic features and inflammatory markers normal Antinuclear antibody POSITIVE! (not always)

Answer 114

Inflammation of the point at which the tendon of a muscle inserts into a bone. It is the paediatric version of the seronegative spondyloarthropathy conditions. Can be caused by traumatic stress or an autoimmune inflammatory process. Most will have the HLAB27 gene. May have symptoms of inflammatory bowel disease, psoriasis or anterior uveitis

Answer 115

Seronegative inflammatory arthritis associated with psoriasis. Can be symmetrical or asymmetrical. On examination patients may have: plaques of psoriasis pitting of the nails onycholysis dactylitis enthesitis

Answer 116

Care is coordinated by a specialist in paediatric rheumatology with the involvement of a specialist MDT Medical treatment --> NSAIDS for pain eg ibuprofen Steroids eg oral, intramuscular or intra-articular in oligoarthritis DMARDs eg methotrexate or sulfasalazine Biology therapy eg tumour necrosis factor inhibitors eg etanercept or infliximab

Answer 117

Infection of the respiratory system passed on by airborne transmission and caused by the morbillivirus, a type of paramyoxovirus.

Answer 118

fever --> temperature increases from day 1-5 Koplik's spots --> small white spots on the buccal mucosa visible from days 2-5 Cough --> present through the whole symptomatic phase rash --> days 3-7 starting behind the ears and spreading down the body Conjunctivitis symptoms and coryzal symptoms --> days 1-5

Answer 119

blood film: leucopenia and lymphopenia LFTs: raised transaminases oral fluid test: measles RNA confirms diagnosis --> serum serology can also be used

Answer 120

Acute treatment: supportive with abx if secondary infection occurs eg pneumonia Vitamin A: in developing countries, deficiency can lead to a more severe course of illness Antivirals in the case of immunocompromised patients Hospital admission --> isolation

Answer 121

Acute otitis media LRTI eg bacterial pneumonia Encephalitis --> occurring 8 days after the onset of illness Subacute sclerosing panencephalitis

Answer 122

Varicella-Zoster

Answer 123

prodrome: spread by respiratory droplets or direct contact with lesions rash: usually starts on head and trunk before spreading to the rest of the body. Starts as red macules progressing to macules --> vesicle --> pustule --> crusting Other features: headache, appetite loss, signs of URTI, fever and itching

Answer 124

symptoms: treatment of fever and itching stay off school for 5 days from start of skin eruption antivirals eg aciclovir in immunocompromised patients

Answer 125

A seizure in response to a rapid rise in temperature. They occur in the presence of a fever eg temperature >38

Answer 126

young age at first seizure early on in the course of infection at first seizure relatively low temperature at first seizure family history

Answer 127

last <15 minutes generalised tonic clonic isolated event --> doesn't occur again within the same febrile seizure uneventful recovery

Answer 128

lasts >15 minutes focal or focal with secondary generalisation reoccurs within 24 hours of the same febrile illness rarely suffers from Todd's paresis afterwards

Answer 129

has the child been vaccinated are they at school any previous abx treatment any history of trauma or toxin ingestion any family history developmental history rule out meningitis/encephalitis!!!

Answer 130

looking for source of infection --> urinalysis, stool and blood cultures, normal blood tests, LP if suspect meningitis, CXR CT/MRI/EEG may be considered if complex febrile seizures

Answer 131

A-E assessment General measures eg monitoring the child, preventing injuries by cushioning head, keep child well hydrated prolonged seizure --> benzodiazepine rescue treatment

Answer 132

most common cyanotic congenital heart disease made up of VSD, pulmonary stenosis, right ventricular hypertrophy, overriding aorta

Answer 133

male 1st degree family history of CHD teratogens during pregnancy --> alcohol, warfarin, trimethadione DiGeorge syndrome VACTERL association CHARGE syndrome associated congenital defects eg right aortic arch

Answer 134

A disorder that affects: Vertebral defects Anal atresia Cardia defects Tracheo-oesophageal fissures Renal anomalies Limb abnormalities

Answer 135

The VSD --> it is normally significant in size and so the pressures between the 2 ventricles are fairly equal. In more severe disease, there is an increased right ventricular pressure secondary to pulmonary stenosis and a right to left shunt forms allowing deoxy and oxy blood to mix leading to lower oxygenated blood in systemic circulation leading to cyanosis.

Answer 136

The aorta is displaced over the intraventricular septum --> receives blood from both ventricles via the VSD, this also causes the aorta to be dilated.

Answer 137

1. Mild (pink) TOF: infants have mild PS and RVH, usually asymptomatic. The disease progresses as the child grows so they become cyanotic by age 1-3 2. Moderate-Severe TOF: may present in the first few weeks of life with cyanosis and respiratory distress. They may be prone to recurrent chest infections or failure to thrive. 3. Extreme TOF: can be further divided into TOF with pulmonary atresia or absent pulmonary valve. These are duct dependent lesions because the only way deoxygenated blood can reach the lungs is through a patent ductus arteriosus. If not picked up on antenatal scans, will present in the first few hours of life with marked respiratory distress and cyanosis as the PDA closes.

Answer 138

Cyanosis Clubbing Poor feeding Poor weight gain Ejection systolic murmur heard loudest in pulmonary area Other signs of congestive heart failure --> sweating, pallor, tachycardia, hepatosplenomegaly, generalised oedema, bilateral basal crackles

Answer 139

Sudden onset dyspnoea/cyanosis Triggered by an event that slightly reduces O2 concentration eg crying/feeding These events temporarily worsen the right to left shunt leading to worsening cyanosis

Answer 140

ECG: may show right axis deviation and RVH Microarray: if genetic syndromes suspected eg dysmorphic features CXR: may show boot shaped heart due to RVH Echocardiogram (gold standard):

Answer 141

Squatting: helps increase venous return and so increasing systemic resistance Prostaglandin infusion: must be started urgently as helps maintain PDA in the most severe forms of TOF Beta blockers: eg propranolol. Reduces heart rate and thus venous return Morphine: reduces respiratory drive and so reduces hyperpnoea Saline 0.9% bolus can be used during tet spells as a volume expander to increase pulmonary blood flow through the right ventricular outflow tract obstruction.

Answer 142

Palliative: -transcatheter RVOT stent -modified Blalock-Taussig shunt which aims to mimic a PDA and increase pulmonary blood flow before definitive repair when a child is older Definitive: -performed under cardiopulmonary bypass --> RVOT stenosis resection, VSD patch closure and pulmonary artery augmentation

Answer 143

Polycythaemia Cerebral abscess Stroke Infective Endocarditis Congestive cardiac failure Death (up to 25% in 1st year of life)

Answer 144

Alagille syndrome DiGeorge syndrome Down's syndrome

Answer 145

Acute wheezy illness caused by viral infection --> children have small airways and when they encounter a virus, even a small amount of inflammation and oedema is enough to restrict airflow

Answer 146

Acute wheezy illness caused by viral infection --> children have small airways and when they encounter a virus, even a small amount of inflammation and oedema is enough to restrict airflow

Answer 147

VIW typically presents before 3 years of age, no atopic history and only occurs during viral infections

Answer 148

preceding viral illness eg fever, cough, coryzal symptoms for 1-2 days and then onset of shortness of breath, signs of respiratory distress and expiratory wheeze through the chest (not localised!!) Onset of wheeze and SOB may be sudden over a few hours

Answer 149

Similar to acute asthma eg nebulised beta 2 agonist eg salbutamol nebulised ipratropium steroids eg prednisolone or hydrocortisone Oxygen Fluids Pain relief

Answer 150

CXR: will help rule out pneumonia Bloods: -FBC eg may show increased WBC --> increased neutrophils may point to bacterial infection vs increased lymphocytes may point to viral infection.

Answer 151

CXR: will help rule out pneumonia Bloods: -FBC eg may show increased WBC --> increased neutrophils may point to bacterial infection vs increased lymphocytes may point to viral infection. ABG: may have respiratory tachypnoea/assess for respiratory distress

Answer 152

infection of the lungs characterised by inflammation of the lung parenchyma --> causes sputum to fill the airways and alveoli

Answer 153

Newborns: organisms from mother's genital tract eg strep B, gram negative enterococci Infants and younger children: viral eg RSV bacterial eg streptococcus pneumoniae, haemophilus influenzae, chlamydia trachomatis Children over 5: usually bacterial eg mycoplasma pneumoniae, streptococcus pneumoniae and chlamydia pneumoniae, staphylococcus For all ages: THINK TUBERCULOSIS

Answer 154

having these conditions: -congenital lung cysts -chronic lung disease -immunodeficiency -cystic fibrosis -sickle cell disease tracheostomy in situ low birth weight vitamin A deficiency

Answer 155

usually preceding URTI fever SOB cough (may or may not be present, younger children either will not cough or will not have a productive cough) lethargy localised pain eg neck, chest or abdo (always rule out meningitis) tachypnoea signs of respiratory distress eg nasal flaring, head bobbing, tracheal tug, chest hyperinflation, recessions etc wheeze consolidation eg associated with dullness to percussion may not be present in children on auscultation, creps may be confined to one lobe of the lung, or one lung eg not all over

Answer 156

CXR- may confirm or rule out diagnosis and cannot differentiate between bacterial and viral causes although CXR with cavities, fluid and air is usually caused by staphylococcus. blunting of costophrenic angle indicates parapneumonic effusion nasopharyngeal aspirate can help identify causative organisms

Answer 157

most pneumonia cases can be managed at home but indications for admission are: O2 <93% (don't rely on sats) tachypnoea grunting apnoea episodes poor feeding signs of severely increased WOB floppy, limp or lifeless child signs of severe dehydration

Answer 158

O2 therapy IV fluids Abx depending on age of child, severity of illness etc -newborns: wide spectrum IV abx eg gentamycin or amoxicillin -older children: amoxicillin is first line (if no allergy) and then co-amoxiclav if complicated case, alternatives could include doxycycline or ceftriaxone if penicillin allergy present -age >5 years old: amoxicillin first line, erythromycin second line

Answer 159

O2 therapy IV fluids Abx depending on age of child, severity of illness etc -newborns: wide spectrum IV abx eg gentamycin or amoxicillin -older children: amoxicillin is first line (if no allergy) and then co-amoxiclav if complicated case, alternatives could include doxycycline or ceftriaxone if penicillin allergy present -age >5 years old: amoxicillin first line, erythromycin second line

Answer 160

a disorder affecting premature neonates where part of the bowel becomes necrotic. It is a life threatening emergency --> always think NEC if a neonate is vomiting bile!!

Answer 161

very low birth weight or very premature formula feeds (less common in babies fed by breast milk) respiratory distress and assisted ventilation sepsis patent ductus arteriosus and other congenital heart disease

Answer 162

classic presentation: feeding intolerance, vomiting (may be blood or bile stained), abdominal distention and haematochezia progresses and features include abdominal tenderness, abdominal oedema, erythema and palpable bowel loops may also present with systemic features eg apnoea, lethargy, bradycardia and decreased peripheral perfusion

Answer 163

Abdo X-Ray: diagnostic imaging --> distended bowel loops, thickened bowel wall and intramural gas (pneumatosis intestinalis/gas within the wall of the small & large intestine), gas in the portal tract and pneumoperitoneum in the later stages due to bowel perforation. Bloods: -FBC showing anaemia, thrombocytopena and leukocytosis/leukopenia -U&Es showing hyponatraemi -blood gas showing metabolic acidosis -blood culture to rule out sepsis

Answer 164

Bell Scoring System

Answer 165

Stage 1: suspected NEC. Lethargy, temperature instability, apnoea, bradycardia, abdo distension, emesis, haematochezia. Bowel distension only on an xray Stage 2: definite NEC. As in stage 1 plus metabolic acidosis, thrombocytopenia, abdo tenderness, absent bowel signs. Xray showing bowel distension, portal venous gas, pneumatosis intestinalis Stage 3: Advanced NEC. As in stage 1 & 2 plus, severe acidosis, electrolyte abnormalities, thrombocytopenia, marked GI bleeding. Xray as in stage 2 plus pneumoperitoneum (gas in the peritoneal cavity)

Answer 166

prophylaxis: antenatal steroids if premature delivery is expected plus breast feeding is protective medical: suitable if stage 1 or 2 --> withhold oral feeds for 10-14 days and replace w/ parenteral nutrition plus systemic support surgical: -indications for surgery include intestinal perforation, GI obstruction secondary to stricture formation, deterioration despite medical management -methods include intestinal resection with stoma formation

Answer 167

intestinal perforation sepsis death short bowel syndrome neurodevelopmental disorders NEC recurrence

Answer 168

A full thickness abdominal wall defect in which foetal abdominal organs protrude outside the abdomen with no protective layer. Due to contact with amniotic fluid, the bowel is thick and matted. Usually detected on an USS at 20 weeks but also visible at birth. If picked up on USS, birth should be at a neonatal surgical centre

Answer 169

maternal smoking --> possibly due to placental insufficiency maternal age <20 years old environmental exposure eg to nitrosamines maternal cyclooxygenase inhibitors eg use of ibuprofen and aspirin

Answer 170

Abdo organs are herniated outside the abdominal cavity usually through a full thickness opening (not through umbilicus as this is exomphalos) commonly involved organs --> small intestines, large intestines, stomach and liver DEFINING FEATURE: no protective sack around the organs intestines may also be thick and swollen, the neonatal abdominal cavity may be smaller than expected Also associated with intestinal malrotation and intestinal atresia

Answer 171

Immediate management: immediate fluid resuscitation, clear & sterile covering over the organs, maintain adequate temperature and place baby on right side to prevent kinking of mesenteric vessels Definitive management: surgery aims to reduce the organs and close the abdominal wall defect. larger defects may need a staged surgical approach to return the contents to the abdomen slowly by placing them in a sac called a silo -following surgery, a nasogastric tube is inserted to decompress the bowel and parenteral feeding is given while the inflammatory peel recovers.

Answer 172

RBC broken down --> unconjugated bilirubin which is conjugated in the liver --> excreted via the biliary system into the intestinal tract and out via stool or out via urine

Answer 173

High concentration of red blood cells in the foetus and neonate and they are more fragile than normal RBC PLUS neonates and foetuses have less developed liver function Foetal red blood cells break down more rapidly than normal RBC, releasing lots of bilirubin which is normally excreted via the placenta, however at birth, the foetus no longer has access to the placenta leading to a normal rise in bilirubin shortly after birth from 2-7 days of age. physiological jaundice is always unconjugated bilirubin

Answer 174

Most common cause is haemolysis due to ABO incompatibility, rhesus disease of the newborn or hereditary spherocytosis Can also be caused by infection so TORCH screen should be done

Answer 175

(jaundice after 14 days) breast feeding jaundice can continue into the fourth or fifth weeks congenital hypothyroidism biliary atresia

Answer 176

A life threatening condition when bilirubin levels reach >360micromolar/litre This means bilirubin can cross the blood brain barrier and form deposits in the basal ganglia and brain stem

Answer 177

neurological signs --> lethargy, poor feeding, fits and coma untreated Kernicterus can lead to death

Answer 178

Bloods --> SBR including conjugated and unconjugated, FBC, blood film, blood grouping, LFTs, TFTs, blood cultures for TORCH screening, Coomb's test Urine dipstick to look for bilirubin and a source of sepsis

Answer 179

physiological jaundice, breast milk jaundice, sepsis, haemolysis, pyloric stenosis, prematurity, hypothyroidism

Answer 180

biliary atresia, neonatal sepsis, metabolic disturbance

Answer 181

Toxoplasma gondii Other agents eg treponema pallidum, varicella zoster, parvovirus & HIV Rubella Cytomegalovirus (CMV) Herpes simplex virus (HSV)

Answer 182

Brain damage due to lack of oxygen during birth

Answer 183

maternal shock intrapartum haemorrhage prolapsed cord causing compressions of the cord during birth Nuchal cord where the cord is wrapped around the neck of the baby

Answer 184

Sarnat staging

Answer 185

Mild: poor feeding, general irritability, hyper alert, resolves within 24 hours, normal prognosis Moderate: poor feeding, lethargic, hypotonic & seizures, can take weeks to resolve with up to 40% developing cerebal palsy Severe: reduced consciousness, apnoeas, flaccid & reduced or absent reflexes, up to 50% mortality with 90% developing cerebal palsy

Answer 186

care coordinated by specialists in neonatology in a neonatal unit supportive care w/ neonatal resuscitation and ventilation, circulatory support, nutrition, acid base balance and treatment of seizures therapeutic hypothermia --> can be beneficial in babies near or at term who have HIE. Involves actively cooling the core temperature of the baby in the neonatal ICU using cooling hats and blankets to a temperature of 33-34 degree across 72 hours before being warmed back up over 6 hours. The intention is to reduce the inflammation and neurone loss --> reduces the risk of cerebal palsy, developmental delay, learning disability, blindness and death.

Answer 187

A spectrum of respiratory distress in neonates born through meconium stained amniotic fluid. Respiratory distress can range from mild to life threatening.

Answer 188

Partial or total airway obstruction Foetal hypoxia Pulmonary inflammation Infection Surfactant inactivation Persistent pulmonary hypertension

Answer 189

Gestational age >42 weeks Foetal distress eg tachycardia/bradycardia Intrapartum hypoxia secondary to placental insufficiency Thick meconium particles Apgar score <7 Chorioamnionitis or prolonged pre rupture Oligohydramnios In utero growth restriction Maternal htn, diabetes, pre eclampsia, eclampsia, smoking or drug abuse

Answer 190

CXR: increased lung volumes, asymmetrical patchy pulmonary opacities, plural effusions, pneumothorax or pneumomediastinum Bloods: FBC, CRP, blood cultures ABG Dual pulse oximetry: oxygen sats should be measured in the right upper limb and one of the lower limbs (pre ductal and post ductal) to determine hypoxia and assess any potential right to left shunts ECG: excludes congenital heart abnormalities Cranial ultrasound: assess for hypoxic damage to the brain

Answer 191

transient tachypnoea of the newborn surfactant deficiency persistent pulmonary hypertension

Answer 192

Observations eg continuous oxygen sats and observe for signs of respiratory distress Nutritional support IV --> nasogastric --> oral Ventilation depending on infant's requirements Antibiotics if clinical suspicion of infection Surfactant Inhaled nitric oxide Steroids

Answer 193

Occurs when the basement membrane in the glomerulus becomes highly permeable to protein, allowing the proteins to leak from the blood into the urine

Answer 194

Classic triad: -low serum albumin -proteinuria >3g/24hour -oedema Other features include: -deranged lipid profile with high levels of cholesterol, triglycerides and low density lipoproteins -high blood pressure -hypercoagulability

Answer 195

most common cause is: minimal change disease secondary causes (intrinsic kidney disease): focal segmental glomerulosclerosis & membranoproliferative glomerulonephritis secondary causes (underlying systemic illness): -HSP -diabetes -infection eg HIV, hepatitis & malaria

Answer 196

Renal biopsy & standard micropsy--> shows no abnormality urinalysis --> small molecular weight proteins & hyaline casts

Answer 197

general management: high dose steroids, low salt diet, diuretics may be used to treat oedema, albumin infusions in severe hypoalbuminaemia, antibiotic prophylaxis in most serious cases High dose steroids given for 4 weeks & gradually weaned over the next 8 weeks In steroid resistant children: ACEi & immunosuppressants eg cyclosporine, tacrolimus, rituximab

Answer 198

Affects premature neonates, born before the lungs start producing adequate surfactant. Commonly occurs below 32 weeks.

Answer 199

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

Answer 200

Antenatal steroids given to mothers with suspected or confirmed preterm labour increases the production of surfactant and reduces the incidence and severity of respiratory distress Premature neonates: -intubation & ventilation -endotracheal surfactant --> artificial surfactant delivered into the lungs via an endotracheal -CPAP via a nasal mask to help keep the lungs inflated while breathing

Answer 201

Short term: -pneumothorax -infection -apnoea -intraventricular haemorrhage -pulmonary haemorrhage -necrotising enterocolitis Long term: -chronic lung disease of prematurity -retinopathy of prematurity -neurological, hearing and visual impairment

Answer 202

Refers to the withdrawal symptoms that happens in neonates of mothers that used substances in pregnancy.

Answer 203

Opiates Methadone Benzodiazepines Cocaine Amphetamines Nicotine/Cannabis Alcohol SSRI antidepressants

Answer 204

Opiates/diazepam/SSRIs/alcohol: 3-72 hours after birth Methadone/other benzodiazepines: 24 hours -21days

Answer 205

CNS: irritability, increased tone, high pitched cry, not settling, tremors, seizures Vasomotor & resp: yawning, sweating, unstable temperatures, pyrexia, tachypnoea Metabolic/GI: poor feeding, regurg & vomiting, hypoglycaemia, loose stools with a sore nappy area

Answer 206

-babies are kept in hospital with monitoring on a NAS chart for at least 3 days (48 hours for SSRIs) -urine sample collected to test for substances -oral morphine sulphate for opiate withdrawal -oral phenobarbitone for non-opiate withdrawal

Answer 207

Chronic lung disease that occurs in premature babies --> typically those born before 28 weeks. It is usually caused by prolonged ventilation & is further defined by age of prematurity/extent of supplemental oxygen requirement. Diagnosis is made based on chest xray changes and when the infant requires oxygen therapy after they reach 36 weeks gestational age

Answer 208

- Low oxygen saturations - Increased work of breathing - poor feeding & weight gain - crackles/wheezes on auscultation - increased susceptibility to infection

Answer 209

- corticosteroids to mothers that show signs of premature labour at less than 36 weeks gestation (betamethasone) once neonate is born: - use cpap rather than intubation/ventilation - use caffeine to stimulate the respiratory effort - not over oxygenating with supplementary oxygen

Answer 210

- a formal sleep study to assess oxygen sats during sleep - they are weaned off oxygen over the first year of life --> can be discharged home on low dose oxygen - must be protected against RSV to reduced risk & severity of bronchiolitis --> monthly injections of monoclonal antibody against the virus called palivizumab

Answer 211

Group B strep --> common bacteria found in the vagina E. Coli Listeria Klebsiella Staph. Aureus

Answer 212

Vaginal GBS colonisation GBS sepsis in a previous baby Maternal sepsis, chorioamnionitis or fever >38 Prematurity Early membrane rupture Prolonged rupture of the membranes

Answer 213

Fever Reduced tone and activity Poor feeding Respiratory distress or apnoea Vomiting Tachycardic or bradycardic Hypoxia Jaundice within 24 hours Seizures Hypoglycaemia

Answer 214

-confirmed or suspected sepsis in the mother -signs of shock -seizures -term baby needing mechanical ventilation -respiratory distress starting more than 4 hours after birth -presumed sepsis in another baby in a multiple pregnancy

Answer 215

- If there is one risk factor or clinical feature, monitor the observations and clinical condition for at least 12 hours - If there are two or more risk factors or clinical feature of neonatal sepsis start antibiotics - Antibiotics should be started if there is a single red flag - Antibiotics should be given within 1 hour of making the decision to start them - Blood cultures should be taken before antibiotics are given - Check a baseline FBC and CRP - Perform a lumbar puncture if infection is strongly suspected or there are features of meningitis (e.g. seizures)

Answer 216

Abx: benzylpenicillin & gentamycin - check CRP again at 24hours and check blood culture results at 36hours --> can consider stopping if clinically well & CRP/blood cultures ok

Answer 217

Occurs when there is thrombosis within small blood vessels throughout the body. Usually triggered by a bacterial toxin called shiga toxin

Answer 218

Haemolytic anaemia: anaemia caused by RBC being destroyed AKI: failure of kidneys to excrete waste Thrombocytopenia: low platelet count

Answer 219

E Coli (shigella/shiga toxin) causes a brief gastroenteritis with blood diarrhoea and symptoms of HUS start around 5 days after onset of diarrhoea: - reduced urine output - haematuria or dark brown urine - abdominal pain -lethargy and irritability -confusion -oedema -hypertension -bruising

Answer 220

It is a medical emergency and has 10% mortality

Answer 221

A congenital condition where there is narrowing of the aortic arch, usually around the ductus arteriosus. The severity of the coarctation can vary from mild to severe. It is often associated with an underlying genetic condition eg Turner's Syndrome

Answer 222

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 eg the heart and first three branches of the aorta (brachiocephalic, left subclavian & left common carotid)

Answer 223

Often only indication in neonates is weak femoral pulses Performing a four limb blood pressure will reveal high BP in the limbs that come from before the narrowing and low BP in limbs that come after the narrowing. May be systolic murmur below the left clavicle and below the left scapula. Other signs: -tachypnoea -poor feeding -grey and floppy baby Additional signs that may develop over time: -left ventricular heave due to LV hypertrophy -underdeveloped left arm where there is reduced flow to the left subclavian -underdevelopment of the legs

Answer 224

Mild cases: patients can live symptom free until adulthood Severe cases: emergency surgery just after birth. Risk of heart failure death after birth. Prostaglandin E is used to keep the ductus arteriosus open while waiting for surgery. Surgery is then performed to close the ductus arteriosus and repair the narrowing.

Answer 225

Where the attachments of the aorta and pulmonary trunk are swapped. This means the right ventricle pumps blood into the aorta and the left ventricle pumps blood into the pulmonary vessels. Normal development during pregnancy due to foetal circulation. After birth the condition is immediately life threatening as there is no connection between the systemic circulation and pulmonary circulation. The baby will be cyanosed. Immediate survival depends on a shunt between the systemic circulation & pulmonary circulation that allows blood flowing through the body an opportunity to get oxygenated in the lungs. This shunt can occur across a PDA, ASD or VSD

Answer 226

- diagnosed during pregnancy with antenatal ultrasound scans - if defect is not detected during pregnancy it will present with cyanosis at or within a few days of birth - a PDA or VSD can initially compensate by allowing blood to mix between the systemic circulation and the lungs - within a few weeks of life they will develop respiratory distress, tachycardia, poor feeding, poor weight gain & sweating

Answer 227

- a VSD provides some time for definitive treatment due to the mixing of blood - prostaglandin infusion can be used to maintain the ductus arteriosus -balloon septostomy can create large artificial ASD buying time for definitive management through open heart surgery & bypass to perform an arterial switch

Answer 228

In babies there is immaturity of the lower oesophageal sphincter, which allows stomach contents to easily reflux into the oesophagus. It is normal for babies to reflux feeds

Answer 229

chronic cough hoarse cry distress eg crying or unsettled after feeds reluctance to feed pneumonia poor weight gain

Answer 230

Overfeeding GORD Pyloric stenosis Gastritis/gastroenteritis Appendicitis Infections eg UTI, tonsillitis or meningitis Intestinal obstruction Bulimia

Answer 231

- not keeping down any feed --> pyloric stenosis/intestinal obstruction? - projectile or forceful vomiting --> intestinal obstruction/pyloric stenosis? - bile stained vomit --> intestinal obstruction/necrotising enterocolitis? - haematemesis or melaena - abdo distension - reduced GCS, bulging fontanelle or neurological signs - resp symptoms --> aspiration/infection? - blood in stools --> gastroenteritis/cows milk protein allergy? - signs of allergy --> cows milk protein allergy -apnoeas --> always concerning!

Answer 232

Practical advice: - small, frequent meals - burping regularly - not over feeding - keep baby upright after feeding Problematic cases: - gaviscon mixed with feeds - thickened milk or formula eg specific anti reflux formulas - PPI eg omeprazole

Answer 233

Rare condition causing brief episodes of abnormal movements associated with GORD. The infants are neurologically normal. Key Features: - torticollis: forceful contraction of the neck muscles causing twisting of the neck - dystonia: abnormal muscle contractions causing twisting movements, arching of the back or unusual postures The condition resolves as the reflux is treated/improves. Referral to specialist is needed.

Answer 234

Hypertrophy of the pyloric sphincter causes functional obstruction and prevents food travelling from the stomach to the duodenum as normal. After feeding, waves of peristalsis try to push the food into the duodenum. When this food can't enter the duodenum because of the stenosis, the food is ejected into the oesophagus and out of the mouth.

Answer 235

- presents in the first few weeks of life - hungry baby - thin, pale, failure to thrive - if examined after feeding, peristalsis can be seen by observing the abdomen - a firm, round mass can be felt in the upper abdomen --> caused by the hypertrophic muscles of the pylorus - blood gas analysis will show a hypochloric, metabolic alkalosis as the baby is vomiting the hydrochloric acid from the stomach (COMMON DATA INTERP. QUESTION IN EXAMS!)

Answer 236

Diagnosis made using abdominal ultrasound to visualise thickened pylorus Treatment involves laparoscopic pyloromyotomy

Answer 237

A congenital condition where nerve cells of the myenteric plexus are absent in the distal bowel and rectum

Answer 238

This nerve plexus runs all the way along the bowel in the bowel wall --> contains neurones, ganglion cells, receptors, synapses & neurotransmitters. It is responsible for stimulating peristalsis of the large bowel.

Answer 239

Absence of parasympathetic ganglion cells. During foetal development these cells start higher in the GI tract and migrate down to the distal colon/rectum. Hirschsprung's occurs when the parasympathetic ganglion cells do not travel all the way down to the colon and a section of colon at the end is left without these parasympathetic ganglion cells. The aganglionic section of colon does not relax, causing it to become constricted leading to obstruction. Proximal to the obstruction, the bowel becomes distended and full.

Answer 240

Family history increases risk of Hirschsprung's - Down's Syndrome - Neurofibromatosis - Waardenburg syndrome - Multiple endocrine neoplasia type II

Answer 241

Can present with acute intestinal obstruction shortly after birth *or* more gradually developing symptoms Features: - delay in passing meconium (>24hours) - chronic constipation since birth - abdominal pain & distention - vomiting - poor weight gain & failure to thrive

Answer 242

Inflammation & obstruction of the intestine occurring in around 20% of neonates with Hirschsprung's disease. Typically presents within 2-4weeks of birth with fever abdo distention and diarrhoea, & features of sepsis

Answer 243

- physiologic anaemia of infancy - anaemia of prematurity - blood loss - haemolysis - twin to twin transfusion (where blood is unequally distributed between twins that share a placenta)

Answer 244

- haemolytic disease of the newborn - hereditary spherocytosis -G6PD deficiency

Answer 245

- normal dip in Hb around 6-9 weeks of age in healthy term babies - high oxygen delivery to the tissues caused by the high Hb levels @ birth can cause negative feedback - production of erythropoietin by the kidneys is suppressed and so there is reduced Hb production by the bone marrow

Answer 246

Premature neonates are more likely to become anaemic because: - 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 247

* a cause of haemolysis and jaundice in neonates* - it is caused by incompatibility between the rhesus antigens on the surface of red blood cells of the mother and foetus

Answer 248

- rhesus antigen is a protein on the surface of RBCs - rhesus positive means rhesus antigens are present - rhesus negative refers to the absence of the rhesus antigen - if people who are rhesus negative receive blood that contains the rhesus antigen, the body produces an immune response that will destroy red blood cells containing the rhesus antigen -rhesus negative individuals should only receive rhesus negative blood - rhesus positive individuals can receive blood form anybody

Answer 249

Sensitisation is when the baby's rhesus positive blood mixes with the maternal blood stream and the mother's immune system produces rhesus antibodies against the rhesus positive blood cells - the antibodies activate the babies own immune system against the red blood cells resulting in haemolytic disease of the foetus and newborn - it takes time to develop so the mother's first baby is usually not affected

Answer 250

* blood does not cross the placenta unless* -abdominal trauma -miscarriage (especially after 12 weeks) -termination of pregnancy -amniocentesis or chorionic villus sampling procedure - PV bleeding at any point in the pregnancy - mixing of blood occurs at birth these scenarios are known as sensitising events and the process is sometimes called alloimunisation

Answer 251

- rhesus sensitisation can be prevented if Rh(D) immune globulin (more commonly known as Anti-D) is given at the time of any sensitising event. - at birth, the newborn is tested for blood group, if rhesus positive, then Anti-D is given to the mother at birth - if testing is unavailable, a dose of anti-D should be given to the mother at birth regardless Previously sensitised mothers: - any mother who is negative should have the Coombs test - if positive Coombs test, perform anti-body titres - confirms mother is producing rhesus antibodies and the baby should be screened for anaemia -USS of the middle cerebral artery of the foetus can detect anaemia - foetal blood tests carries risks

Answer 252

2 key: - iron deficiency anaemia secondary to dietary insufficiency - blood loss, most frequently from menstruation in older girls other: -sickle cell -thalassaemia -leukaemia -hereditary spherocytosis -hereditary elliptocytosis -sideroblastic anaemia worldwide: common cause of blood loss leading to chronic anaemia and iron deficiency is helminth infection

Answer 253

microcytic --> low MCV indicating small RBCs normocytic --> normal MCV indicating normal sized RBCs Macrocytic --> large MCV indicating large RBCs

Answer 254

TAILS: Thalassaemia Anaemia of chronic disease Iron deficiency anaemia Lead poisoning Sideroblastic anaemia

Answer 255

3As and 2Hs Acute blood loss Anaemia of chronic disease Aplastic anaemia Haemolytic anaemia Hypothyroidism

Answer 256

Can be megaloblastic or normoblastic Megaloblastic: result of impaired DNA synthesis preventing the cell from dividing normally so just keeps growing into a large cell Megaloblastic causes: - B12 deficiency - folate deficiency Normoblastic: - alcohol - reticulocytosis - hypothyroidism - liver disease - drugs eg azathioprine

Answer 257

Tiredness Shortness of breath Headaches Dizziness Palpitations Worsening of other conditions

Answer 258

Pale skin Conjunctival pallor Tachycardia Raised respiratory rate

Answer 259

Koilonychia: spoon shaped nails, iron deficiency Angular cheilitis: iron deficiency Atrophic glossitis: smooth tongue due to atrophy of the papillae and can indicate iron deficiency anaemia Brittle hair/nails: iron deficiency anaemia Pica/hair loss: iron deficiency (from zohaib <3 u) Jaundice: haemolytic anaemia Bone deformities: thalassaemia

Answer 260

Thalassaemias are autosomal recessive disorders of Hb, causing structural deficiencies in Hb molecules --> type of haemoglobinopathy Heterozygous forms are common and usually minor Homozygous forms are rare but cause a severe anaemia of childhood and can be fatal without treatment

Answer 261

Alpha thalassaemia: defects in the alpha globin chains, gene coding for this protein is on chromosome 16) Beta thalassaemia: defects in the beta globin chains, gene coding for this protein is on chromosome 11)

Answer 262

The RBCs are broken down more easily and are more fragile. The spleen acts as a sieve to filter the blood and remove older blood cells leading to splenomegaly. The bone marrow expands to produce extra RBCs to compensate for the chronic anaemia leading to a susceptibility to fractures & prominent features eg pronounced forehead and malar eminence (cheek bones)

Answer 263

Microcytic anaemia (low MCV) Fatigue Pallor Jaundice Gallstones Splenomegaly Poor growth & development Pronounced forehead and malar eminence

Answer 264

Microcytic anaemia (low MCV) Fatigue Pallor Jaundice Gallstones Splenomegaly Poor growth & development Pronounced forehead and malar eminence

Answer 265

FBC: microcytic anaemia HB electrophoresis: used to diagnose globin abnormalities DNA testing: can show genetic abnormalities

Answer 266

Occurs as a result of the faulty creation of RBCs, recurrent transfusions & increased absorption of iron in the gut in response to anaemia. Patients with thalassaemia have serum ferritin levels monitored to check for iron overload Symptoms: fatigue, liver cirrhosis, infertility, impotence, heart failure, arthritis, diabetes, osteoporosis & joint pain Management: iron chelation (pharmacological agents bind to the extra iron and allow it to be excreted)

Answer 267

Monitoring FBC Monitoring for complications Blood transfusions Splenectomy may be performed Bone marrow transplant may be curative

Answer 268

Thalassaemia minor Thalassaemia intermedia Thalassaemia major

Answer 269

Patients are carriers of an abnormally functioning beta globin gene --> one normal & one abnormal Causes a mild microcytic anaemia & usually just needs monitoring

Answer 270

Patients will have 2 abnormal copies of the beta globin gene --> either 2 defective genes or 1 defective & 1 deletion gene Causes a significant microcytic anaemia requiring monitoring & occasional blood transfusions. May need iron chelation

Answer 271

Patients are homozygous for the deletion genes & have no functioning beta globin genes. It is the most severe form and usually presents with severe anaemia and failure to thrive in early childhood. Symptoms: severe microcytic anaemia, splenomegaly and bone deformities Management: regular transfusions, iron chelation & splenectomy. Bone marrow transplant may be curative

Answer 272

Genetic condition caused by a mutation in the gene encoding the Hb subunit beta, encoded by the beta globin gene. It is inherited in an autosomal recessive with HbAS individuals being carriers and HbSS individuals being affected by the disease

Answer 273

Hb is made up of 4 globin chains surrounding 4 haem molecules -HbS allele results from a single nucleic acid substitution from GAG to GTG in the beta globin gene -causes glutamic acid to be substituted with valine Carriers have the genotype HbAS Sufferers have the genotype HbSS -the base pair substitution in the mutated HbS haemoglobin makes it prone to sickling --> becomes rigid and sickle shaped -in the deoxygenated state, the HbS tetramers bind to each other and begin to polymerise, growing into long fibres which distort the shape of the RBC -this contributes to vaso-occlusion and chronic haemolysis

Answer 274

Ethnicity --> black background eg Black African, Black Caribbean

Answer 275

More common in patients from areas traditionally affected by malaria. Having one copy of the gene reduces the severity of malaria --> selective advantage to having the sickle cell gene in areas where malaria is endemic

Answer 276

Acute pain from vaso-occlusion Dactylitis (painful inflammation of a finger or toe, usually first presentation of disease in a child) Family history --> parent diagnosed with sickle cell or unknown carrier On examination: - pallor/lethargy due to anaemia - juandice due to haemolysis - fever - tachycardia/tachypnoea - digital redness/swelling & pain due to inflammation

Answer 277

Umbrella term for a spectrum of acute crises related to the condition. Can occur spontaneously or be triggered by stresses such as infection, dehydration, cold or significant life events No specific management for sickle cell crises and are managed supportively

Answer 278

Vaso-occlusive crisis Splenic sequestration crisis Aplastic crisis Acute chest crisis

Answer 279

Caused by the sickle shaped blood cells clogging the capillaries and causing distal ischaemia - it is associated with dehydration and raised haematocrit - symptoms are typically pain, fever and those of the triggering infection - it can cause priapism in men where blood is trapped in the penis --> urological emergency

Answer 280

Caused by RBCs blocking blood flow within the spleen causing an acutely enlarged and painful spleen -pooling of blood within the spleen can lead to severe anaemia and circulatory collapse -management is supportive with blood transfusion & fluid resuscitation to treat anaemia and shock

Answer 281

- a situation where there is temporary loss of the creation of new blood cells - most commonly triggered by parvovirus B19 - leads to significant anaemia - management is supportive with blood transfusions if necessary

Answer 282

A dx of acute chest syndrome requires: - fever or respiratory symptoms with -new infiltrates seen on a chest x-ray Can be due to: infection eg pneumonia/bronchiolitis or non infective causes eg pulmonary vaso-occlusion or fat emboli Medical emergency with high mortality. Requires prompt supportive management & treatment of the underlying cause --> - antibiotics/antivirals for infections -blood transfusions for anaemia -incentive spirometry -artifical ventilation may be required

Answer 283

Describes a group of rare bleeding disorders caused by a congenital defect in the production of specific clotting factors.

Answer 284

Haemophilia A: X-linked recessive (so in order to have the condition, all of the X chromosomes need to have the abnormal gene). Caused by a deficiency in Factor VIII Haemophilia B: also X linked recessive. Caused by a deficiency in Factor IX

Answer 285

Patients can bleed excessively in response to minor trauma and are also at risk of spontaneous haemorrhage without any trauma. Most cases present in neonates and early childhood --> can present with intercranial haemorrhage, haematomas & cord bleeding in neonates Spontaneous bleeding into joints (haemoarthrosis) and muscles are a classic feature of severe haemophilia --> worth remembering for exams!! Abnormal bleeding can occur in other areas: - gums - gastronintestinal tract - urinary tract causing haematuria - retroperitoneal space - intercranial - following procedures

Answer 286

FBC: anaemia but all other components should be normal (rule out thrombocytopenia) Coagulation screen: - APTT: activated partial thromboplastin time is prolonged. APTT demonstrates the speed of coagulation by the intrinsic pathway of the clotting cascade - PT: prothrombin time would be within normal range. PT demonstrates the speed of coagulation by the extrinsic pathway Factor VIII conc.: will be low in haemophilia A Factor IX conc.: will be low in haemophilia B Other: CT head if suspected intercranial bleed, joint imaging/aspiration if suspected haemarthrosis

Answer 287

2 components of haemophilia management: prophylaxis & management of bleeds when they occur Mild to moderate disease: prophylaxis not usually required. Management is usually focused on treating bleeds when they occur. Acute episodes of bleeding: infusions of relevant factor, desmopressin to stimulate release of von Willebrand factor & antifibrinolytics eg TXA Prophylaxis: reserved for patients with severe form of the disease. Regular IV infusions of the relevant factor. Education for the family in managing bleeding along with lifestyle advice eg good dental hygiene and avoiding contact sports.

Answer 288

- chronic arthropathy: chronic joint disease that occurs secondary to recurrent bleeds within the joints - development of factor VIII or IX inhibitors: patients who receive clotting factors develop antibodies against them, making treatment of the haemophilia less effective - transfusion related complications: allergic reactions, acute haemolytic reaction, bacterial infection and transmission of blood borne viruses

Answer 289

An autosomal recessive disorder in which there is decreased production of RBC, WBC & platelets due to bone marrow failure. Can cause problems with the immune system, increased risk of infection and can lead to bleeding problems. People with FA may have stature, upper limb malformations and an increased incidence of AML

Answer 290

Most common inherited cause of haemophilia

Answer 291

It is caused by deficiencies in a protein called Von Willebrand factor which helps to prolong the life of factor VIII in the clotting cascade

Answer 292

It is caused by deficiencies in a protein called von Willebrand factor which helps to prolong the life of factor VIII in the clotting cascade

Answer 293

Depends on the extent of the disease: -bleeding from the mucosa eg epistaxis, menorrhagia (in women with no gynaecological cause) -spontaneous bleeding --> including joints and other internal organs -in severe VWD: spontaneous mucosal bleeding or death secondary to massive GI haemorrhage

Answer 294

- Von willebrand factor important in platelet adhesion and factor VIII transport - it helps attract circulating platelets to the site of bleeding - it binds to factor VIII and prevents it being cleared from plasma

Answer 295

- Decreased concentration of von willebrand factor, most common cause - Often autosomal dominant - quantitative deficiency (aka reduced levels of the factor) - normal lifespan - occasional easy bruising - may have increased risk of belleding after dental procedures and surgery

Answer 296

- qualitative deficiency --> normal quantities are produced but it is defective - autosomal dominant or autosomal recessive inheritance - less common - sub classified according to the defect in the von willebrand factor (2a, 2b, 2m, 2n) - bleeding tendency varies depending on the type

Answer 297

- near complete absence of von willebrand factor - least common - autosomal recessive inheritance - mimics haemophilia - severe mucosal bleeding - may present with severe haemoarthrosis

Answer 298

Patients with mild disease will go unnoticed. Patients who present with abnormal bleeding should be investigated: FBC: blood count normal except for a moderate reduction in platelets in some with type 2 APTT prolonged PT usually normal Diagnosis: quantitative immunoassay/electrophoresis Factor VIII levels low

Answer 299

Avoid NSAIDs & anti-platelet drugs Minor bleeds don't require any specific treatment More severe bleeds: - pressure - TXA can be given orally & is available as a mouthwash, and IV infusion for severe cases - desmopressin can be used in severe bleeds & can be given IV or intranasally - consider oral pill for women with menorrhagia - factor VIII concentrates with von willebrand factor

Answer 300

A condition characterised by idiopathic (spontaneous) thrombocytopenia causing a pupuric rash

Answer 301

It is caused by a hypersensitivity II reaction. It is caused by the production of antibodies that target and destroy platelets.

Answer 302

Usually present in children under 10 years old, often there is a history of a recent viral illness. The onset of symptoms occurs over 24-48 hours: -bleeding eg from gums, epistaxis, or menorrhagia - bruising - petechial or purpuric rash

Answer 303

The condition can be confirmed by doing an urgent full blood count for the platelet count. Other values on the FBC should be normal apart from ↓↓ platelet count - other causes of low platelet count should be excluded eg heparin induced thrombocytopenia and leukaemia Usually no treatment required and patients are monitored until platelets return to normal Severe thrombocytopenia/active bleeding: - prednisolone - IV immunoglobulins - blood transfusions - platelet transfusions only work temporarily

Answer 304

Chronic ITP Anaemia Intracranial & subarachnoid haemorrhage GI bleeding

Answer 305

When an infection affects the tissue of the kidney. It can lead to scarring in the kidney tissue and lead to a reduction in kidney function

Answer 306

Means inflammation of the bladder → can be as a result of a bladder infection

Answer 307

UTIs affecting the urethra and bladder

Answer 308

UTIs affecting the renal pelvis and kidneys

Answer 309

E Coli (most common cause) Klebsiella Staph saprophyticus

Answer 310

Age <1 year Female Caucasian Previous UTI Voiding dysfunction Vesicoureteral reflex (this is the reflex of urine from the bladder into the ureter) Sexual abuse → can cause urinary symptoms but infection is uncommon Spinal abnormalities Constipation Immunosuppression

Answer 311

Vomiting Fever Lethargy Poor feeding Failure to thrive

Answer 312

Increased frequency Painful urination Dysfunctional voiding Changes in continence Abdo pain loin tenderness Less common: vomiting, fever, malaise, haematuria, smelly urine etc

Answer 313

Ideal urine sample is a clean catch to avoid contamination Nitrites: gram neg bacteria eg E Coli break down nitrates (normal waste product) into nitrites Leukocytes: WBCs. Normally a small number of WBCs in the urine. A significant rise can be the result of infection or another cause of inflammation Nitrites are a better indicator of UTI than leukocytes → if only nitrites are present treat as UTI, if both are present treat as UTI, but if only leukocytes present, only treat as UTI if clinical indication

Answer 314

All children under 3 months with a fever should start immediate IV abx eg ceftriaxone and have a full septic screen including blood cultures, bloods and lactate → lumbar puncture should also be considered Oral abx can be considered in chidlren >3 months if they are otherwise well. Children with sepsis or pyelonephritis will require inpatient treatment and IV abx Antibiotic choices: - trimethoprim - nitrofurantoin - cefalexin - amoxicillin

Answer 315

Should be investigated for underlying cause and associated renal damage Ultrasound: - all children <6 months with their first UTI should have an abdo USS within 6 weeks - children with recurrent UTIs should have an abdo USS within 6 weeks - children with atypical UTIs should have an abdo USS during the illness DMSA (dimercaptosuccinic acid scan) - should be used 4-6 months after the illness to assess for damage from recurrent or atypical UTIs - injects DMSA (radioactive material) and using a gamma camera to assess how well the material is taken up by the kidneys - where there are patches of kidney that have not taken up the material, this can indicate scarring that may be the result of previous infection Vesico-ureteric reflux - is where urine flows back from the bladder into the ureters - can mean the patient is more likely to develop upper UTIs and so renal scarring - diagnosed using MCUG - management can be: avoid constipation or avoid excessively full bladder or prophylactic abx or surgery Micturating cysrourethrogram (MCUG) - should be used to investigate atypical or recurrent UTIs in children

Answer 316

It is a term describing a set of symptoms and not a pathological condition in itself: - haematuria - proteinuria - hypertension - uraemia - oliguria DIFFERENCE BETWEEN NEPHROTIC & NEPHRITIC IS NEPHRITIC HAS HAEMATURIA - the proteinuria present is often smaller than in nephrotic syndrome so a co-existent condition of nephrotic syndrome is not usually present

Answer 317

Cylindrical structures produced by the kidney and present in the urine in certain renal diseases. The presence of RBC casts are usually associated with nephritic syndrome → the presence of RBCs within a cast is always pathological and strongly indicative of glomerular damage

Answer 318

Nephritic syndrome can lead to encephalopathy (particularly in children) due to electrolyte imbalances and HTN

Answer 319

Caused by type III hypersensitivity: - post strep glomerulonephritis - IgA nephropathy - diffuse proliferative glomerulonephritis Caused by multiple causes - membranoproliferative glomerulonephritis - rapidly progressive glomerulonephritis Caused by a defect in collagen synthesis: - alport syndrome

Answer 320

Most common Nephrotic. Aetiology unknown but associated with Hodgkin’s Lymphoma, leukaemia and NSAID use. Usually occurs before the age of 8. Immunoglobulins ARENT excreted in urine (Only Nephrotic with this feature)

Answer 321

Focal - Only some glomeruli affected Segmental - Only part of affected glomeruli affected Sclerosis - Scarring Can be idiopathic or secondary to - HIV - Heroin - Lithium - Lymphoma

Answer 322

Anti-PLA2R antibodies cause disease of glomerular basement membrane. GBM damage causes it to form expansions - “spike and dome” appearance. Mostly affects white male adults.

Answer 323

Diffuse proliferative glomerulonephritis Membranoproliferative glomerulonephritis

Answer 324

All type 3 except Goodpastures Goodpastures is type 2

Answer 325

gA vasculitis/ Henoch-Schonlein purpura - Systemic and can be nephrotic too. - Arthritis, skin lesions, Bloody stools, abdominal pain

Answer 326

Type 3 hypersensitivity reaction (antigen-antibody deposition) Abnormal IgA immune deposits accumulate in mesangium of kidney, inciting immune response causing inflammation.

Answer 327

It is a congenital condition that is usually diagnosed on examination of the newborn. It is where the opening of the urethra is abnormally displaced to the underside of the penis - can be further towards the glans - halfway down the shaft - or even at the base of the hsaft

Answer 328

Important to eliminate underlying disorder of sex development if associated with unilateral or bilateral undescended testis

Answer 329

Referral to a paediatric specialist urologist Warn parents not to circumcise the infant until a urologist indicates it is ok Mild cases may not require treatment Surgery usually performed at 3-4 months of age to correct the position of the opening and straighten the penis → urethroplasty

Answer 330

- astrocytoma: low & high grade gliomas that develop from glial cells - medulloblastoma: usually develop in the posterior fossa/cerebellum - ependymoma: formed from CSF producing ependymal cells - craniopharyngioma: found at the base of the brain close to the pituitary gland - germ cell tumours - choroid plexus tumours

Answer 331

- personal or family history of brain tumour, leukaemia, sarcoma or early onset breast cancer - prior therapeutic CNS irradiation - neurofibromatosis 1 & 2 - tuberous sclerosis 1 & 2 - other familial genetic syndromes

Answer 332

Symptoms & signs can be changeable and can be part of a broader picture of delayed milestones, neurodevelopmental delay, differential education attainment - headache: persistent/recurrent, day or night, may disturb sleep, due to mass effect or hydrocephalus from blockage of CSF flow - nausea/vomiting: due to raised ICP - behavioural changes: usually due to tumours in the frontal lobe - polyuria/polydipsia: tumours can stop ADH production causing diabetes insipidus - seizures: maybe due to neuronal changes or chemical imbalance affecting normal electrical activity in the brain - altered GCS O/E: - visual symptoms eg diplopia, reduced visual acuity/fields, abnormal eye movements or fundoscopy -motor signs eg abnormal gait or coordination, swallowing difficulties, weakness - delayed growth - delayed, arrested or precocious puberty - increased head circumference if under 2 years old

Answer 333

MRI is first line Contrast enhanced CT if MRI is not possible

Answer 334

Initial management: analgesia, antiemetics, anticonvulsants, fluid/dietary support, treatment to ↓ ICP eg steroids - surgical steroids: dependent on the location of the tumour - radiotherapy: as an adjuvant to surgical resection or primary treatment method depending on the histological type - chemotherapy: commonly used in situations where the tumour cannot be removed completely with surgery. The BBB can be a challenge for chemo as can impair some treatments from reaching their target action site - proton therapy - stem cell transplants

Answer 335

A cancer derived from neural crest cells typically arising in the adrenal glands or abdominal sympathetic chain. It is the most common cancer in children under 1 year old. It is much less common in those >5 yeards old

Answer 336

Associated with a specific profile of acquired genetic mutations: MYCN and ALK oncogenes Loss of function of the tumour suppressor PHOX2B³

Answer 337

Can have a diverse range of presenting symptoms with symptoms non specific. - abdo distension - fatigue - appetite loss - weight loss - sweating/agitation (increased catecholamine secretion) - bone pain/recurrent infections (metastasis) O/E: - dense abdo swelling which may cross the midline - may be hypertensive & tachycardic due to excess catecholamine synthesis - symptoms of metastasis eg a scattered purpura called blueberry muffin rash

Answer 338

Look for products of catecholamine breakdown eg homovanillic acid (HVA) or vanillylmandelic acid (VMA) in urine Imaging: MRI, USS or CT Definitive test for neuroblastoma is: MIBG scan. Radioactive iodine is injected and 2 scans are taken 24 hours apart. The iodine stays in the tumour so the tumour shows up intensely dark on a scan

Answer 339

Look for products of catecholamine breakdown eg homovanillic acid (HVA) or vanillylmandelic acid (VMA) in urine Imaging: MRI, USS or CT Definitive test for neuroblastoma is: MIBG scan. Radioactive iodine is injected and 2 scans are taken 24 hours apart. The iodine stays in the tumour so the tumour shows up intensely dark on a scan

Answer 340

In infants <18 months with low grade staging, the tumour may regress to nothing or a benign ganglioma Older children or those with aggressive disease: surgery. If surgery not curative → adjuvant chemo or radiotherapy can be used alongside surgery

Answer 341

Osteosarcoma Ewing's sarcoma

Answer 342

osteoblastic chondroblastic fibroblastic The type depends on how well differentiated the cells are when the oncogenic event occurs

Answer 343

- Li-Fraumeni syndrome - RB1 mutation - Rothmund-Thomson syndrome, Bloom syndrome, Werner syndrome etc

Answer 344

Pain → usually at the tumour site, although occasionally referred pain as well. Pain is often intermittent, worse at night and resistant to analgesia Lump Stiffness or limp Non specific symptoms eg fatigue, weight loss and headache

Answer 345

Bloods → FBC, U&E, CRP, ESR, bone profile, lactate dehydrogenase X-Rays: - bone destruction - new bone formation - periosteal swelling - soft tissue swelling Clinical suspicion with persistent bone pain or night pain needs urgent MRI Staging tests eg MRI, CT, isotope bone scans Biopsy for definitive diagnosis

Answer 346

Surgery: remove tumour, aim for limb reconstruction but amputation may be required. As long as no metastasis, tumour removal is normally curative Chemo: osteosarcoma is aggressive and ↑ chance of micrometastatic disease so chemo is standard. Chemo before surgery and then chemo after surgery. - first line chemo in patients under 30 is doxorubicin, cisplatin and high dose methotrexate +/- mifamurtide

Answer 347

It is a small, round blue cell tumour that most commonly develops in flat bones eg tibia, fibula, femur, pelvis and ribs

Answer 348

Translocation between chromosome 11 and 22

Answer 349

Bone pain → progressive over time, worse at night, resistant to OTC analgesia Restricted movement of a joint Fatigue Weight loss Tender palpable mass Fever Increased susceptibility to fracture

Answer 350

Bloods: FBC, U&E, LFTs, ↑ ESR, ↑ CRP, ↑ ALP, ↑ LDH and a bone profile X-Ray: Ewing sarcoma appears as a destructive diaphyseal lesion with layered periosteal calcification

Answer 351

Chemo: used prior to surgery and post surgery. Chemo regimen is vincristine, doxorubicin, cyclophosphamide and etoposide Surgery: limb sparing surgery with resection of the tumour and mental implant/bone graft preferred. Amputation if tumour too widely spread Radiotherapy: can be used before surgery to shrink the tumour, especially in regions that are difficult to resect eg pelvis. Can be used after surgery to destroy remaining tumour & is utilised in individuals where the resection did not remove the entire tumour.

Answer 352

Genetic condition that results in brittle bones that are prone to fractures due to a range of genetic conditions that affect the formation of collagen. 8 types of osteogenesis depending on the underlying genetic mutation and varying in severity.

Answer 353

- hypermobility - blue/grey sclera - triangular face - short stature - deafness from early adulthood - dental problems - bone deformities including bowed legs & scoliosis - joint & bone pain

Answer 354

Blue sclera is most commonly associated with osteogenesis imperfecta → exam patient will often be a young child with unusual & recurrent fractures that would normally make you consider safeguarding *except* they have blue sclera THINK OSTEOGENESIS

Answer 355

It is a clinical diagnosis X-Rays can be helpful in diagnosing bone fractures and deformities Genetic testing is possible but not routinely done

Answer 356

Medical treatments: bisphosphonates & vitamin D supplements Management is MDT → physio, occupational therapy, paediatricians, orthopaedic surgeons, specialists nurses & social workers

Answer 357

It is the childhood version of osteomalacia where defective bone mineralisation causes soft & deformed bones. It is called osteomalacia after fusion of the epiphyseal plates. The condition is characterised by normal bone formation with abnormal bone mineralisation thus there is excess osteoid and cartilage, and insufficient.

Answer 358

Caused by a deficiency in vitamin D or calcium. Renal osteomalacia → results in vitamin D deficiency Drug induced → particularly with anti-convulsants Rare form → caused by genetic defects that result in low phosphate in the blood called hereditary hypophosphataemic rickets, with most common form is x linked dominant

Answer 359

Symptoms: - lethargy - bone pain - bone deformity - poor growth - dental problems - muscle weakness - pathological or abnormal fractures Bone deformities: - bowing of the legs (outwards) - knock knees (inwards) - rachitic rosary where the ends of the ribs expand at the costochondral junctions causing lumps along the chest - craniotabes (soft skull with delayed closure of the sutures and frontal bossing) - delayed teeth with under development of the enamel *exam tip- think about the risk factors for vitamin D deficiency*

Answer 360

Vitamin D levels: serum 25 hydroxyvitamin D <25nmol/L establishes a diagnosis of vitamin D deficiency Serum calcium: may be ↓ Serum phosphate: may be ↓ Serum alkaline phosphate: may be ↑ Parathyroid hormone: may be ↑ X-Ray is required to diagnose rickets but must be used in conjunction with PHT and vit D serum levels to confirm diagnosis NICE suggests additional investigations to look for other pathology: - FBC/ferritin levels for iron deficiency anaemia - ESR/CRP - LFTs & kidney function - TFT for hypothyroidism - rheumatoid tests for inflammatory autoimmune conditions

Answer 361

Prevention: breastfed babies more at risk of vitamin D deficiency so all breastfeeding women & children should take a vitamin D supplement Vitamin D deficiency: can be treated with ergocalciferol

Answer 362

Autosomal recessive condition caused by a mutation in the cystic fibrosis transmembrane conductance regulatory gene on chromosome 7. Leads to thick mucus.

Answer 363

failure to thrive, meconium ileus, bronchiectasis, hyperinflation of the chest, persistent lung infections, poor weight gain, fatty stools, salty skin, nasal polyps, rectal prolapse

Answer 364

Newborn screening: heel prick test (Guthrie Test) Sweat test: (gold standard) Pilocarpine is added to a patch of skin on the leg or arm. Electrodes are attached and an electric current is passed through. The skin sweats and the sweat is analysed for chloride concentration → dx is >60mmol/L

Answer 365

MDT approach Chest physio, mucolytics, prophylactic abx for chest infections, pancreatic enzymes, high calorie, high fat diets

Answer 366

Venous hum - Innocent ejection systolic murmur due to turbulent blood flow in the great veins returning to the heart Still's- innocent ejection systolic murmur heard at left sternal edge

Answer 367

Soft blowing (venous hum) or buzzing in aortic area (still's murmur) May vary with posture, localised with no radiation, no diastole component, no thrill, no added sounds, asymptomatic child with no other features.

Answer 368

Degenerative hip disease resulting in ischaemia and avascular necrosis of the femoral head.

Answer 369

Age 5-10 years, boys 5x more likely, 10% bilateral

Answer 370

short stature, obesity, passive smoking, low socio-economic class

Answer 371

Progressive hip pain over a few weeks with no history of trauma Limp, stiffness, reduced hip movement, effusion due to synovitis

Answer 372

X-ray: -early sign: widening of joint space -later signs: sclerosis, fragmentation and eventually flattening of proximal femoral epiphysis If x-ray normal- technetium bone scan or MRI

Answer 373

Most resolve with conservative management eg brace or casting to keep femoral head in place <6 years= observe >6 years= surgical mx if severe deformity

Answer 374

osteoarthritis, premature fusion of growth plates

Answer 375

Rare hip condition, displacement of the femoral head epiphysis postero-inferiorly

Answer 376

Onset 10-15 years old, usually boys, 25% bilateral

Answer 377

Very tall & thin or short & obese Afro-carribbean FHx of SUFE

Answer 378

May occur acutely with trauma, or more commonly chronic, persistent groin/thigh pain Hip, groin, thigh, knee pain particularly on weight bearing Externally rotated hip Limited RoM when abducting or internally rotating the hip Leg shortening

Answer 379

X-ray: AP & lateral. Widening and irregularity of femoral epiphysis plate. Displacement is medial and superior.

Answer 380

Surgical pinning ASAP → internal fixation

Answer 381

Osteoarthritis, avascular necrosis of femoral head, chondrolysis, leg length discrepancy

Answer 382

A lump at the tibial tuberosity where the patella tendon inserts. Stress from running and jumping at the same time of the growth in the epiphyseal plate results in inflammation and small avulsion fractures where the patella pulls away some fragments of bone

Answer 383

Gradual onset of pain with exacerbation during physical activity/kneeling etc Visible lump that is hard and painful.

Answer 384

Clinical dx, may do x-ray to rule out other causes

Answer 385

Supportive- rest, ice, NSAIDs Once symptoms reduced, physio and stretching to regain function Usually self-limiting leaving a hard and bony bump

Answer 386

Bacterial: most common. Secondary to URTI. Strep Pneumoniae, H Influenzae, Moraxella

Answer 387

Otalgia (ear tugging) Middle ear effusion Erythema around tympanic membrane, fever, hearing loss, ear discharge (perforation)

Answer 388

Otoscopy: loss of light reflex, perforation with purulent otorrhoea

Answer 389

Pain relief and safety netting Abx- 5 to 7 days of amoxicillin Abx given if systematically unwell, sx lasting >4 days, immunocompromised, perforation, discharge etc

Answer 390

cerebral calcification hydrocephalus cerebral palsy jaundice hepatosplenomegaly

Answer 391

saddle nose deafness hutchinson's teeth keratitis

Answer 392

microphthlamia (small eyes) limb hypoplasia microcephaly learning difficulties

Answer 393

hydrops fetalis

Answer 394

sensorineural deafness cataracts congenital heart defects glaucoma cerebral palsy hepatosplenomegaly

Answer 395

sensorineural deafness microcephaly low birth weight hepatitis hepatosplenomegaly purpuric skin lesions visual impairment jaundice anaemia

Answer 396

Normally transmitted during delivery Cutaneous vesicles meningoencephalitis limb paralysis/hypoplasia abnormally diminished muscle tone, hepatitis

Answer 397

Conjunctivitis in babies <30 days. Should be urgently referred to ophthalmology for assessment. Chlamydia and gonorrhoea normally cause it

Answer 398

Prodrome starts with a fever. The rash starts centrally on the torso/face and starts out as a macular rash and then becomes vesicular

Answer 399

Secondary bacterial infection of the lesions (NSAIDs can increase this risk) Group A strep can lead to necrotising fasciitis pneumonia encephalitis disseminated haemorrhagic chicken pox

Answer 400

Abdo x-ray DRE → immediate release of stools Full thickness rectal biopsy (gold standard) shows lack of ganglionic nerves in affected region

Answer 401

Surgery- anorectal pull through procedure

Answer 402

Invagination of part of the bowel in the lumen of the adjacent bowel

Answer 403

ileo-caecal region

Answer 404

6-18 months boys 2x more likely

Answer 405

Tonsillitis or ear infections → cause lymph nodes in the bowel to swell and act as lead points

Answer 406

Milky → green/yellow vomit Sausage shaped mass in RUQ Redcurrant stools Colicky pain Infants draw knees up to chest and go pale during paroxysm

Answer 407

USS → gold standard, donut or target shaped sign x-ray → sausage shaped

Answer 408

Fluids Insufflation/pneumatic reduction via fluoroscopic guidance

Answer 409

Congenital diverticulum of the small intestine, responsible for 50% of all lower GI bleeds in small children

Answer 410

Remnant of the omphalomesenteric duct that remains to term and contains ectopic ileal, pancreatic or gastric mucosa

Answer 411

2% of the population 2 feet from the ileocaecal valve 2 inches long presents <2 years

Answer 412

Usually asymptomatic but may have pain similar to appendicitis, rectal bleeding or intestinal obstruction

Answer 413

Meckel's scan/ technetium scan In more severe cases, mesenteric arteriography

Answer 414

Surgery → wedge excision or formal bowel resection and anastamosis

Answer 415

Maldevelopment of the brain Infections Genetic syndromes

Answer 416

Hypoxic injury before or during delivery

Answer 417

Meningitis Encephalitis Head trauma Hydrocephalus Hyperbilirubinaemia

Answer 418

Mixed, ataxic, dyskinetic, spasticity (most common)

Answer 419

Red flag- hand preference before 18 months Failure to meet developmental milestones Problems with speech, walking, swallowing, feed and learning

Answer 420

Clinical dx MRI to rule out other causes

Answer 421

MDT involvement, physio Medication: -spasticity: baclofen/diazepam -dyskinetic: anticholinergics

Answer 422

When spermatic cord becomes twisted, normally due to trauma to the scrotum

Answer 423

Cold weather, scrotal deformities

Answer 424

Sudden onset pain, difficulty walking, nausea and vomiting, inflamed, firm and swollen, abdo pain

Answer 425

USS: whirlpool sign

Answer 426

Urgent surgical exploration Orchiopexy

Answer 427

Testes have not fully descended from the abdo in 1-2 months prior to birth

Answer 428

SGA Prematurity Maternal smoking during pregnancy Family hx

Answer 429

Palpable: can be felt in the groin but not manipulated into the scrotum. Unpalpable: cannot be felt in the inguinal canal, abdo or scrotum Retractable: can be felt in the inguinal canal and can be manipulated into the scrotum without tension

Answer 430

NIPE- should be picked up during NIPE, arrange for karyotyping if bilaterally unpalpable

Answer 431

Orchiopexy in first year of life to improve fertility, self examination for malignancy, reduce risk of torsion

Answer 432

Group of inherited disorders where the adrenal gland is bigger than normal

Answer 433

Virilisation of external female genitals- clitoral hypertrophy and fusion of the labia Infant males may have enlarged penis and pigmented scrotum Present shortly after birth with poor feeding, vomiting, dehydration and arrhythmias

Answer 434

Blood tests: hyponatraemia, hyperkalaemia, and hypoglycaemia with metabolic acidosis Corticotrophin stimulating test If parents are suspected carriers- amniocentesis, villous sampling

Answer 435

Salt losing crisis: sodium chloride, glucose and hydrocortisone IV Life long glucocorticoids to suppress ACTH, mineralocorticoid replacement if salt loss, monitor growth and skeletal maturity

Answer 436

Due to the insensitivity of the testes to gonadotrophin hormones.

Answer 437

Family hx (males), low gonadotrophin secretion → crohn's, anorexia, excessive exercise, Klinefelter, Turner's

Answer 438

Gonadotrophin dependent → idiopathic, brain tumour, neurodisability Non-gonadotrophin dependent → ovaria cysts/tumours, congenital adrenal hyperplasia, testicular tumours, adrenal tumours

Answer 439

Male: testes <3mL by 14yo Female: absent breast development by 13yo or absent menarche Both: absent axillary or pubic hair

Answer 440

Male: testes >4mL by <9yo Female: breast development <8yo or menarche

Answer 441

Bloods- detect underlying causes Hormonal tests Genetic testing Pelvic USS

Answer 442

Treat underlying cause Delayed -males= IM testosterone >14 -females= oestradiol Precocious GNRH analogue, reduce rate of skeletal maturity

Answer 443

High dose aspirin IV immunoglobulins

Answer 444

IgA vasculitis- inflammatory disease caused by IgA deposits in the blood vessels

Answer 445

peaks in winter months, often preceded by URTI, more common in males, most common in children <10yo

Answer 446

Purpura: starts on legs and spreads to buttocks but can affect trunk and arms Joint pain: affecting knees and ankles Abdo pain: colicky Renal involvement

Answer 447

At least one of: diffuse abdo pain, arthritis or arthralgia, IgA deposits on histology (biopsy), proteinuria/haematuria

Answer 448

Other ix to exclude other problems eg FBC, blood film, U&Es, serum albumin (nephrotic syndrome), CRP and cultures

Answer 449

Supportive- can use steroids monitor

Answer 450

Neonatal respiratory distress syndrome

Answer 451

Anti-tissue transglutaminase (Anti TTG) Anti-endomysial (Anti-EMA)

Answer 452

Small bowel- particularly the jejunum

Answer 453

Failure to thrive, diarrhoea, vomiting, weight loss, mouth ulcers, anaemia, dermatitis herpetiformis (itchy rash on abdo)

Answer 454

HLA DQ2 HLA DQ8

Answer 455

Biopsy: crypt hypertrophy, atrophy of the villi Total IgA antibodies and then check for anti ttg and anti ema

Answer 456

T1DM Thyroid disease T21 Autoimmune hepatitis Primary biliary cirrhosis Primary sclerosing cholangitis

Answer 457

Vitamin deficiency Anaemia Non-hodgkin's lymphoma Enteropathy associated T cell lymphoma of the intestine Osteoporosis Ulcerative jejunitis Small bowel adenocarcinoma

Answer 458

It is a congenital condition where part of the bile duct is absent, leading to cholestasis and a build up of conjugated bilirubin

Answer 459

Prolonged jaundice eg persisting for more than the first 14 days Other signs of bile obstruction eg pale greasy stools or very dark urine

Answer 460

Blood tests: conjugated bilirubin will be raised and deranged LFTs

Answer 461

With surgery- the kasai portoenterostomy

Answer 462

Unable to weight bear Fever Systemic illness Severe pain Limp or pain worsening Pain waking the child at night Redness, swelling and stiffness Weight loss or anorexia

Answer 463

Often occur within a few weeks of viral illness Acute or gradual onset of a limp, refusal to weight bear, groin or hip pain, mild low grade temperature Should not have systemic illness

Paediatrics Flashcards

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