PAEDS Flashcards

Question

PERTUSSIS | What are the investigations for pertussis?

Answer 1

- Nasopharyngeal swab with bacterial culture or PCR - Marked lymphocytosis on blood film (predom high lymphocytes) - Test for anti-pertussis toxin IgG if cough >2w

Answer 2

- Pneumonia - Convulsions - Bronchiectasis

Answer 3

- Notify PHE - Prophylaxis = vaccine (esp. infants + pregnant women) or if close contact macrolide (erythromycin) - PO macrolides (azithromycin, clarithromycin) 1st line if onset <21d - School exclusion for 48h following Abx or 21d from onset if no Abx

Answer 4

- Suffering from cyanotic attacks | - <6m

Answer 5

- Stridor (rasping sound on inspiration) - Hoarseness of voice (inflamed vocal cords) - Barking cough - Variable degree of dyspnoea

Answer 6

- Croup - Epiglottitis - Laryngomalacia - Inhaled foreign body - Tracheitis

Answer 7

- Chest recession (none, only on crying, at rest) - Degree of stridor (none, only on crying, at rest or biphasic) - Tracheal tug (none, present) - Sternal wall retractions (present or marked) - Lethargy or agitation + RD = severe

Answer 8

- Mucosal inflammation + swelling can rapidly cause life-threatening obstruction - Do NOT examine throat, keep calm

Answer 9

- URTI causing oedema in larynx, oedema of subglottis dangerous (narrow trachea) - Peak incidence 2y (6m–3y), commonly Autumn - Parainfluenza viruses (#1), less so RSV, metapneumovirus, influenza

Answer 10

- Initial low grade fever + coryza start and are worse at night - Barking (seal-like) cough, harsh stridor + hoarseness

Answer 11

- Clinical but if CXR done PA view shows subglottic narrowing (steeple sign) - Westley score for severity (chest wall retractions, stridor, cyanosis, air entry + consciousness) - Mod-severe croup, <6m or upper airway issues (laryngomalacia)

Answer 12

- PO dexamethasone 0.15mg/kg 1st line, can repeat at 12h - Nebulised budesonide (steroid) - High flow oxygen + nebulised adrenaline (more severe/emergency cases) - Monitor closely with anaesthetist + ENT input, intubation rare

Answer 13

- Rare but dangerous, similar to severe viral croup but child has high fever, appears toxic + rapidly progressive airways obstruction with copious thick secretions - Staph aureus - IV Abx + intubation + ventilation if required

Answer 14

- Life-threatening emergency as high risk of obstruction due to intense swelling of epiglottis + surrounding tissues associated with septicaemia - Haemophilus influenza B (HiB), most common 1–6y

Answer 15

- Rapid onset, no preceding coryza - High fever in an ill, toxic looking child - Intensely painful throat (can't drink, speak, drooling saliva) - Soft inspiratory stridor with absent or minimal cough - 'Tripod' position > optimise airway by leaning forward + extending neck

Answer 16

- Clinical Dx but if CXR done lateral view show epiglottis swelling = thumb sign

Answer 17

- Prevention HiB vaccine, rifampicin prophylaxis for close household contacts - Do NOT examine throat, anaethetist, paeds + ENT surgeon input - Intubation if severe, may need tracheostomy - IV ceftriaxone + dexamethasone given once airway secured

Answer 18

- Supraglottic larynx structured in a way that allows partial airway obstruction + stridor on inspiration (congenital floppy larynx) - Intermittent inspiratory stridor, worse when feeding, upset, on back or UTRI - Bronchoscopy = omega shaped epiglottis - Resolves as matures

Answer 19

- Inflammation + infection of bronchioles | - 90% aged 1–9m, less common after 1, common in the winter

Answer 20

- RSV #1, others = adenovirus, metapneumovirus + Mycoplasma | - Adenovirus associated with bronchiolitis obliterans (perm damage due to scarring, Rx steroids)

Answer 21

- Premature babies - CHD - Cystic fibrosis - Immune deficiency

Answer 22

- Coryzal Sx precede a sharp, dry cough with increasing breathlessness - Feeding difficulty associated with increasing dyspnoea - Respiratory distress

Answer 23

- Subcostal + intercostal recession, apnoea - Hyperinflation of chest - Accessory muscles - Nasal flaring - Fine end-inspiratory crackles - Tracheal tug - Head bobbing - Grunting - High pitched wheezes - Tachypnoea, tachycardia - Low grade fever

Answer 24

- Nasopharyngeal secretions PCR for RSV (immunofluorescence) - CXR may show hyperinflation due to small airways obstruction, air trapping + foetal atelectasis - Blood gas (capillary) if severe + ?ventilation > falling O2, rising CO2 + pH

Answer 25

- Supportive | - Most recover 2w, some have recurrent episodes of cough + wheeze

Answer 26

- Apnoea - Severe resp distress (RR>60, marked chest recession, grunting) - Central cyanosis - SpO2 < 92% - Dehydration - 50–75% usual intake

Answer 27

- Saline nasal drops - Small feed (NG 1st or IV if cannot tolerate) - Humidified oxygen via nasal cannula - Suction if excessive secretions - Assisted ventilation by CPAP or fully mechanical (rare)

Answer 28

- Monoclonal Ab to RSV = palivizumab as monthly IM | - Reduces hospital admissions in high-risk infants (preterm, cystic fibrosis, congenital heart disease)

Answer 29

- Infection + inflammation of the lung parenchyma

Answer 30

i) GBS (gram -ve enterococci) ii) RSV most common, pneumococcus #1 bacterial, also H. influenzae, Bordatella pertussis, chlamydia trachomatis (S. aureus rarely but = serious) iii) Pneumococcus, mycoplasma pneumoniae, chlamydia pneumoniae iv) Pneumocystis jiroveci or TB

Answer 31

- Fever + difficult breathing common presenting Sx - Often preceded by URTI - Productive cough, poor feeding, lethargy - Mycoplasma can present extra-pulmonary (erythema multiforme)

Answer 32

- Tachypnoea + tachycardia - Nasal flaring + chest indrawing, head bobbing - End-inspiratory focal coarse crackles - Other signs (dull percussion, bronchial breathing) can be absent in young

Answer 33

- SpO2 may be low - FBC, CRP ± blood cultures + sputum culture - CXR to confirm diagnosis

Answer 34

- Lobar consolidation (dense white area in a lobe) = pneumococcus - Rounded air-filled cavities (pneumatoceles) + multi-lobar = S. aureus

Answer 35

- May have pleural effusion which can lead to empyema - Suspect if persistent fever, foul smelling mucus - Surgical drainage ± chest drain

Answer 36

- Prophylaxis PCV vaccine with 13 common pneumococcus serotypes + HiB vaccine - SpO2 <92%, severe tachypnoea, grunting, apnoea, not feeding, family unable to provide appropriate care

Answer 37

- Newborns = IV broad-spec Abx - Older = PO amoxicillin with broad-spectrum Abx (co-amoxiclav) if unresponsive or influenza - Macrolides (erythromycin) to cover for mycoplasma, chlamydia or if unresponsive

Answer 38

- Expiratory, polyphonic breathing sound created by air being forced through narrow air passage - Episodic viral = only wheezes when viral URTI + Sx free inbetween - Multiple trigger = as well as viral URTIs, other triggers (exercise, smoke)

Answer 39

- Often decreased lung function from birth from small airway diameter so more likely to narrow + obstruct due to inflammation from viral URTI - Maternal smoking during/after pregnancy + prematurity - M>F, usually resolves by 5 as airway size increases

Answer 40

- SOB, signs of resp distress, widespread expiratory wheeze - Preschool (1-3y), no atopy + only during viral infections - PRN salbutamol 1st line, Montelukast or ICS or both = 2nd line

Answer 41

- Chronic inflammatory airway disease causing episodic exacerbations of bronchoconstriction due to smooth muscle contraction of the airways (bronchi)

Answer 42

- Airflow limitation due to bronchospasm (reversible spontaneously or with Tx) - Airway hyperresponsiveness to various triggers - Bronchial inflammation

Answer 43

- Oedema - Excessive mucus production - Infiltration with cells (eosinophils, mast cells, neutrophils, lymphocytes)

Answer 44

Allergic/atopic asthma – - T1 hypersensitivity IgE mediated reaction (mast cells + histamine) - PMH/FHx of atopy (eczema, hayfever, food allergies), persistent Sx Non-allergic asthma – - Idiopathic but triggers

Answer 45

- Smoking, allergens, exercise, cold/damp air, animals, beta-blockers, NSAIDs, occupations - LBW, FHx, bottle fed, atopy, male, pollution

Answer 46

- Dry cough, SOB, chest tightness - Bilateral widespread polyphonic wheeze - Episodic Sx with diurnal variability (worse at night + early morning)

Answer 47

- Clinical Dx (RCP3 Qs) - FBC = eosinophilia (atopy) - Fractional exhaled nitric oxide >40ppb = inflamed airways - Peak expiratory flow rate diary - Spirometry - Atopy (skin prick or IgE showing ≥1 allergen + constant wheeze) - ?CXR to exclude other causes (hyperinflation)

Answer 48

Assessing asthma severity – Recent waking in the night? – Usual asthma Sx in the day? – Interference with ADLs?

Answer 49

- 2 readings a day will show diurnal variation >20% on ≥3d/week - Will show bronchodilator responsiveness too

Answer 50

- Obstructive pattern = FEV1 <80%, FEV1/FVC < 70% | - Bronchodilator responsiveness = FEV1 ≥12% improvement

Answer 51

- Inhaler technique - Avoid triggers - Monitor peak flow diary - Yearly flu jab + asthma review - Asthma self-management programme

Answer 52

- SABA = salbutamol, terbutaline "reliever" - ICS = beclomethasone "preventer" - LABA = salmeterol, formoterol - Leukotriene receptor antagonists = montelukast - Theophylline = aminophylline - Maintenance + reliever therapy = combined low dose ICS + fast acting LABA

Answer 53

i) Adrenaline acts on smooth muscles of airways > dilation, acts fast but lasts only few hours ii) Reduces inflammation + reactivity of airways iii) Same as SABA but longer effects, useful in exercise-induced asthma

Answer 54

i) Leukotrienes produced by immune system > inflammation, bronchoconstriction + mucous secretion in airways so blocks this ii) Relaxes bronchial smooth muscle + reduces inflammation iii) Replaces all other inhalers as preventer + reliever

Answer 55

i) Hypokalaemia, tremor ii) Oral thrush, adrenal + growth suppression, DM, osteoporosis iii) Vomiting, insomnia, headaches

Answer 56

- 1 = PRN SABA - 2 = Low dose ICS OR PO montelukast - 3 = Other option from 2 - 4 = refer to specialist

Answer 57

- 1 = PRN SABA - 2 = SABA + low dose ICS - 3 = SABA + low dose ICS + LABA (only continue if good response) - 4 = increase ICS dose (?LTRA or PO theophylline) - 5 = PO steroids in lowest tolerated dose - May need immunosuppression or immunomodulation therapy with specialist referral

Answer 58

ABCDE – - Adherence (#1) - Bad disease (dose inadequate for severity) - Choice of drug/device (different pts respond differently) - Diagnosis (?correct) - Environment (?trigger)

Answer 59

- Acute exacerbation of asthma characterised by rapid deterioration in Sx - Any of typical asthma triggers - Worsening dyspnoea, use of accessory muscles, tachypnoea, symmetrical expiratory wheeze, reduced air entry

Answer 60

- PEFR 33–50% predicted - Unable to complete full sentences - RR>50 (2-5y), or >30 (>5y) - HR >130 (2-5y) or >120 (>5y) - Signs of resp distress (chest recessions) - SpO2 <92%

Answer 61

- PEFR 33% predicted - Exhaustion/cyanosis - Poor respiratory effort - Altered consciousness, hypotension - Silent chest (airways so tight no air entry) - SpO2 <92%

Answer 62

- Monitor RR, peak flow, SpO2, chest auscultation - ECG monitoring for arrhythmias (low K+ from SABA + steroids) - ABG = initial resp alkalosis as tachypnoea causes drop in CO2, normal pCO2 or hypoxia concerning as indicates exhaustion, resp acidosis from high CO2 very bad sign

Answer 63

O SHIT ME – - Oxygen (SpO2 94–98%) - Salbutamol (spacer or neb B2B, IV if no response to this + ipratropium as 2nd line) - Hydrocortisone IV or PO pred - Ipratropium bromide (neb if poor response to salbutamol) - Theophylline (IV) - Magnesium sulfate (IV) - Escalate early > ICU if not improving for ventilation ± intubation

Answer 64

- Any child with persistent cough that sounds wet (i.e. excess sputum in chest) or productive - May have bronchiectasis (may show on CXR but CT chest best) due to CF, primary ciliary dyskinesia, immunodeficiency or chronic aspiration

Answer 65

- AR congenital abnormality in structure/function of cilia > impaired mucociliary clearance > recurrent URTI/LRTI > bronchiectasis

Answer 66

- Recurrent productive cough, purulent nasal discharge + chronic ear infections - Kartagener's triad = paranasal sinusitis, bronchiectasis + situs invertus - Daily physio to clear secretions, Abx for infections

Answer 67

- Mutation in gene encoding cystic fibrosis transmembrane conductance regulator (CFTR) on chromosome 7 which is a cAMP dependent Cl- channel on cell membranes of lungs, pancreas, GI + reproductive tract

Answer 68

- Decreased Cl- excretion into airway lumen + increased reabsorption of Na+ into epithelial cells means less excretion of salt (+ so water) > increased viscosity of airway secretion

Answer 69

- Thick pancreatic + biliary secretions = blockage of ducts > lack of digestive enzymes in GI tract - Lungs = reduction in air surface liquid layer + impaired ciliary function = reduced airway clearance, bacterial colonisation + infections - Abnormal function of sweat glands = Na+ + Cl- in sweat (saltier)

Answer 70

- Autosomal recessive condition - Most common mutation is deltaF508 deletion, more commonly in caucasians - 1 in 25 carriers + 1 in 2500 have CF

Answer 71

- Meconium ileus (SBO from thick intestinal secretions) - Failure to thrive, malabsorption, steatorrhoea - Prolonged neonatal jaundice - Recurrent chest infections

Answer 72

- Not passing meconium in 24h, vomiting + abdo distension - Meconium pellets + microcolon on contrast enema - AXR will show dilated loops of bowel

Answer 73

- Chronic cough with thick sputum production - Bronchiectasis - Rectal prolapse - Nasal polyps + sinusitis

Answer 74

- DM (pancreatic insufficiency) - Cirrhosis + portal HTN - Distal intestinal obstruction - Pneumothorax or recurrent haemoptysis - Sterility in males as absent vas deferens

Answer 75

- Low weight or height on growth charts - Hyperinflation due to air trapping - Coarse inspiration crepitations ± expiratory wheeze - Finger clubbing

Answer 76

- Respiratory tract infections - Cholesterol gallstones - Malabsorption + maldigestion due to pancreatic insufficiency (failure to thrive, steatorrhoea) - Biggest cause of death is respiratory failure

Answer 77

- S. aureus - H. influenzae - Pseudomonas aeruginosa - Bulkholderia cepacia associated with increased morbidity + mortality

Answer 78

- Guthrie test = raised immunoreactive trypsinogen - Sweat test = gold standard - Low faecal elastase = pancreatic insufficiency - Genetic testing for CFTR gene during pregnancy with amniocentesis or CVS

Answer 79

- Pilocarpine on patch of skin, attach electrodes + induces sweat - Diagnostic Cl- >60mmol/L (normal 1–30mmol/L)

Answer 80

- Resp paeds + GP - Physio - Specialist nurses - Dietician - Genetic counsellor for family

Answer 81

- Chest physio ≥BD for airway clearance - Rescue Abx when needed (may have portacath) + long-term prophylactic flucloxacillin (S. aureus) – avoid other CF pts - Bronchodilators - Nebulised hypertonic saline - Nebulised DNase - Oxygen + CPAP - Heart + lung transplant

Answer 82

- Enzyme that can break down DNA material in respiratory secretions to decrease sputum viscosity + increase clearance

Answer 83

- High calorie, high fat diet - Pancreatic enzyme replacement therapy (Creon) with all food - Gastrostomy for overnight feeding - Fat soluble (ADEK) vitamins

Answer 84

- Upper airway obstruction to adeno-tonsillar hypertrophy - Loud snoring, episodes of apnoea (30-45s), disturbed sleep - Children may be obese, underweight, hyperactive or excessively sleepy during day

Answer 85

- Overnight pulse ox can show frequency + severity of <92% desaturation - Overnight sleep studies will show intermittent hypoxia + hypercapnia

Answer 86

- Adeno-tonsillectomy (if adeno-tonsillar hypertrophy) often curative - Nasal or facemask CPAP or BiPAP may be required at night

Answer 87

- NICE traffic light system for <5 - Colour (skin, lips, tongue) - Activity - Respiratory - Circulation + hydration - Other

Answer 88

i) Pallor ii) No smile, decreased activity, not responding to social cues, wakes when roused iii) Nasal flaring, SpO2 ≤95%, crackles in chest RR>50 (6-12m) or >40 (>12m) iv) Tachy (>160 if <1y, >150 if 1–2y, >140 if 2–5y), CRT ≥3s, dry mucous membranes, reduced urine output v) 3-6m temp ≥39, fever ≥5d, rigors, joint swelling, non-weight bearing

Answer 89

i) Mottled skin ii) No response to cues, doesn't wake if roused, weak, high-pitched or constant cry iii) Grunting, RR>60, mod-severe chest indrawing iv) Reduced skin turgor, no urine output v) <3m temp ≥38, non-blanching rash, bulging fontanelle, neck stiffness, status, focal seizures/neuro

Answer 90

- URTI, tonsillitis, otitis media, UTI | - Meningitis, epiglottitis, kawasaki disease, TB

Answer 91

- Manage at home with safety netting | - Regular fluids, monitor child, contact if concerned

Answer 92

- Clear verbal ± written advice about warning signs with plan of action - Follow up if required - Liaise with other HCPs so direct access if child needs

Answer 93

- F2F assessment with paeds or specialist for further investigation - ?Home with safety net

Answer 94

- Urgent referral to hospital for specialist assessment (?999)

Answer 95

- Primary infection by Varicella zoster virus (human herpes virus 3) - Droplet via resp route - Contagious 4d before rash + until lesions crusted (often 5d)

Answer 96

- Immunocompromised - Older age - Steroids - Malignancy - Neonates

Answer 97

- Prodromal high fever 38-39 often ceases when rash appears, malaise - Very itchy, vesicular rash starts on head + trunk > peripheries - Not infective once vesicles have crusted over (5d usually)

Answer 98

- Secondary bacterial infection - Shingles (older children) - Ramsay Hunt syndrome (older children) - Risk to immunocompromised, neonates + pregnant women - Rarer = pneumonia, encephalitis

Answer 99

- Small area of cellulitis or erythema, persistent fever - Small risk staph/group A strep infection > necrotising fasciitis - NSAIDs may increase risk, Rx with Abx (IV if severe or dehydrated)

Answer 100

- Reactivation of dormant virus > herpes zoster virus (shingles) in dorsal root ganglia - Characteristic rash in dermatomal distribution, acute, unilateral, blistering painful rash - Rx with PO aciclovir

Answer 101

- Herpes zoster oticus > reactivation of varicella zoster virus in geniculate ganglion of CN7 - Auricular pain, facial nerve palsy, vesicular rash around ear, ?vertigo + tinnitus - PO aciclovir + corticosteroids

Answer 102

i) Disseminated disease, DIC, pneumonitis (VZIG if exposed to case) ii) Mother develops shortly before/after delivery infant > VZIG + aciclovir iii) Risk of foetal varicella syndrome if <20w

Answer 103

- Camomile lotion to stop itching - Avoid high risk groups - Trim nails - School exclusion until all lesions crusted over (usually 5d after rash)

Answer 104

- Inflammation of the meninges which line the brain + spinal cord - Microorganisms reach meninges by direct extension from ears, nasopharynx or bloodstream spread

Answer 105

- Neonates = GBS or listeria monocytogenes - 1m–6y = N. meningitidis (gram -ve diplococci), S. pneumoniae (gram + ve cocci chain), H. influenzae - >6y = meningococcus + pneumococcus, rarely TB

Answer 106

- Herpes simplex virus (HSV), enteroviruses, EBV + varicella zoster virus - Aseptic/sterile by malignancy or autoimmune diseases

Answer 107

- Fever, headache, vomiting, drowsiness, poor feeding, irritable/lethargic - Later may have seizures, focal neurology, decreased GCS/coma - Neonates may have hypothermia, lethargy + hypotonia

Answer 108

- Meningism = neck stiffness (not always present), photophobia - Bulging fontanelle, opisthotonos, signs of shock - +ve Kernig's + Brudzinski - Non-blanching petechial/purpuric rash = later sign in meningococcal septicaemia (endotoxin causes DIC + subcut haemorrhages)

Answer 109

- Kernig = pain/unable to extend leg at knee when it's bent | - Brudzinski = involuntary flexion of hips/knees when neck flexed

Answer 110

- Blood cultures + serology (before LP + Abx unless undesirable delay) - FBC, U+E, LFTs, CRP, blood glucose - LP for MC&S with protein, cell count, glucose + viral PCR - ?CT head if other signs like papilloedema

Answer 111

- Signs of increased ICP, focal neurology, local infection, unduly delay starting Abx or coagulopathies - Coning of cerebellar tonsils via foramen magnum

Answer 112

i) Cloudy/turbid ii) ++ (make protein) iii) –– (eat glucose) iv) ++ neutrophil polymorphs v) Gram stain

Answer 113

i) Clear ii) Normal/+ iii) Normal/- iv) + lymphocytes v) PCR

Answer 114

i) Turbid/viscous ii) +++ iii) ––– iv) + lymphocytes v) Acid fast bacilli

Answer 115

- Hearing (sensorineural) loss is key complication - Seizures + epilepsy, cerebral abscess, encephalitis + hydrocephalus - Cognitive impairment, cerebral palsy + LD

Answer 116

- Supportive = correct shock with fluids, oxygen if needed - <3m = IV cefotaxime + amoxicillin (cover listeria from ?pregnancy) - >3m = IV ceftriaxone + IV dexamethasone to reduce frequency + severity of hearing loss + neuro damage (NOT before 3m)

Answer 117

- Milder so supportive + aciclovir if HSV or VSZ

Answer 118

- IM benzylpenicillin

Answer 119

- ≤7d contact - Single dose ciprofloxacin or rifampicin - Ciprofloxacin as can use for any age, pregnant ladies + does not interfere with OCP - Post-exposure prophylaxis for meningococcal meningitis

Answer 120

i) Do not give in myasthenia gravis or previous sensitivity, can cause tendinitis + trigger seizures ii) Affect hormonal contraception, not advised in pregnancy + have to monitor LFTs + renal function

Answer 121

- Meningitis B vaccine at 8w, 16w + 1y (men C at 1y too) and ACWY offered to teenagers + uni students - Bacterial meningitis + meningococcal = notifiable diseases

Answer 122

- Inflammation of the brain parenchyma - Mostly viral – herpes viruses (HSV 1 if child or 2 if neonate from birth, VZV), enteroviruses, EBV, resp viruses - Non viral = any bacterial meningitis, TB, lyme disease - Non-infective = autoimmune antibodies against brain

Answer 123

- Similar to meningitis = fever, headache, photophobia, neck stiffness - KEY difference = altered mental state (behavioural change, confusion) - Acute onset focal neurology (hemiparesis, dysphasia, focal seizures)

Answer 124

- FBC, U+Es, blood cultures + serology for viral PCR - LP for MC&S with protein, cell count, glucose + viral PCR - CT/MRI head to visualise brain as ?focal changes, particularly temporal lobes

Answer 125

i) Clear ii) Normal/+ iii) Normal/– iv) + lymphocytes

Answer 126

- IV aciclovir to cover HSV, Abx in case bacterial meningitis - Supportive therapy in HDU/ICU if needed

Answer 127

- Bacteria proliferates into bloodstream as host response includes release of inflammatory cytokines + activation of endothelial cells which can lead to septic shock

Answer 128

- Most common = N. meningitidis - Neonates = GBS or gram -ve organisms from birth canal - Sickle cell disease + immunodeficiency

Answer 129

- Fever, poor feeding, irritable/lethargic, Hx of focal infection - Fever, purpuric non-blanching rash, multi-organ failure

Answer 130

- Tachycardia + tachypnoea - Cold peripheries - Capillary refill >2s - Hypotensive - Oliguria

Answer 131

- Septic screen (FBC, U+Es, blood cultures, urine MC&S, LP/CSF, CXR, acute phase reactant like CRP) - Aggressive fluid resus, ?ICU - Broad-spec Abx until cultures back

Answer 132

- Idiopathic medium-sized vessel systemic vasculitis, mainly affects 6m–5y - More common in children of Japanese or Afro-Caribbean ethnicity

Answer 133

Fever + 4 (MyHEART) – - Mucosal involvement (red/dry cracked lips, strawberry tongue) - Hands + feet (erythema then desquamation) - Eyes (bilateral conjunctival injection, non-purulent) - lymphAdenopathy (unilateral cervical >1.5cm) - Rash (polymorphic involving extremities, trunk + perineal regions - Temp >39 for >5d

Answer 134

- Acute (1–2w) = child most unwell, fever, rash, lymphadenopathy - Subacute (2–4w) = acute Sx settle, desquamation + Risk of coronary artery aneurysms - Convalescent (2–4w) = remaining Sx settle, blood markers normalise slowly

Answer 135

- Coronary artery aneurysm + sudden death - FBC (raised WCC), raised ESR + CRP, raised platelets (week 2) - Echocardiogram with close follow up (6w) to rule out aneurysm

Answer 136

- Prompt IVIg to reduce risk of aneurysm + aspirin to reduce risk of thrombosis - If fever persists = infliximab, steroids or ciclosporin - IVIg - anaphylaxis, aseptic meningitis, organ dysfunction

Answer 137

- Aspirin normally contraindicated in children due to risk of Reye's syndrome (swelling of the liver + brain) - 50% evidence of cardiac impairment + mild MR, long-term follow up

Answer 138

- Infection with measles virus (Morbillivirus) via droplets (highly contagious) - Avoidance of MMR vaccine

Answer 139

- Prodromal Sx for 3–5d (CCCK) – Cough, Coryza, Conjunctivitis, Koplik spots - Maculopapular rash starts on forehead, neck + behind ears > down to limb, trunk - Fever, marked malaise

Answer 140

- White spots on buccal mucosa = pathognomonic | - Clinical Dx with serological (blood or saliva) testing for epidemiology

Answer 141

- Otitis media (commonest complication) - Pneumonia (commonest cause of death) - Diarrhoea - Febrile convulsions, encephalitis - Subacute sclerosing panencephalitis rare where 5-10y after primary measles > loss of neuro function, dementia + death

Answer 142

- Notifiable disease - Best treatment is prevention with MMR vaccine - Viral illness so supportive (fluids, isolate if in hospital) - Antivirals in immunocompromised - School exclusion for 4d from rash onset

Answer 143

- Mild notifiable disease occurring in winter + spring | - Spreads via respiratory route, often from known contact, prevention via vaccine

Answer 144

- Mild prodrome (low-grade fever, sore throat, coryza) - Pink maculopapular rash starts on face then spreads down to cover whole body - Rash not itchy in children but is in adults - Suboccipital + postauricular lymphadenopathy

Answer 145

- Clinical Dx | - Serological confirmation if any risk of exposure of a non-immune pregnant woman

Answer 146

- Rare but > encephalitis, arthritis, myocarditis + thrombocytopenia - Congenital rubella syndrome > cataracts, CHD + sensorineural deafness - Avoid pregnant women, school exclusion 4d from rash, ensure vaccinated

Answer 147

- RNA paramyxovirus, occurs in winter + spring, spreads via resp droplets where virus replicates in epithelial cells - Virus accesses parotid glands before further dissemination - Raised amylase

Answer 148

- Fever, malaise + parotitis - Parotitis often unilateral initially then bilateral > uncomfortable + may have earache or pain when eating/drinking - May have hearing loss but often unilateral + transient

Answer 149

- Viral meningitis + encephalitis - Orchitis (usually unilateral, may reduce sperm count + lead to infertility) - Pancreatitis

Answer 150

- Notifiable disease - Prophylaxis via vaccine - Clinical Dx, manage Sx as viral - School exclusion for 5d of onset of parotid swelling

Answer 151

- Caused by coxsackie A16 virus - Mild viral URTI (sore throat, cough, fever) - Painful red vesicular lesions on hands, feet, mouth + tongue (often buttocks too)

Answer 152

- Subsides within few days, supportive with fluids, analgesia - Very contagious, avoid sharing towels + bedding, good handwashing - Only exclude from school if unwell

Answer 153

- Epstein-Barr virus (EBV), particular tropism for B lymphocytes + epithelial cells of pharynx - Oral contact 'kissing disease'

Answer 154

- Triad of severe sore throat (tonsillopharyngitis can limit oral intake), lymphadenopathy (cervical) + pyrexia - May have petechiae on soft palate, splenomegaly + headache

Answer 155

- FBC (lymphocytosis) + positive Monospot test with heterophile antibodies - Splenic rupture, haemolytic anaemia, chronic fatigue, EBV associated with Burkitt's lymphoma

Answer 156

- Conservative (fluids, analgesia) - Avoid alcohol + contact sports for 8w after to reduce risk of splenic rupture - Avoid amoxicillin as can cause florid, pruritic maculopapular rash

Answer 157

- Reaction to strep pyogenes (group A beta haemolytic) toxin | - Via respiratory droplets

Answer 158

- Prodrome = sore throat, fever, vomiting + abdo pain - Red-pink diffuse rash that is 'rough sandpaper-like' + 'pinhead', starts on trunk + spreads outwards - May have exudative tonsils + strawberry tongue - Tender cervical lymphadenopathy

Answer 159

- Throat swab (but start Abx) | - Otitis media (#1), quinsy, post-strep glomerulonephritis, rheumatic fever

Answer 160

- Notifiable disease - Phenoxymethylpenicillin for 10d to prevent rheumatic fever - Supportive (fluids, pain relief) - School exclusion until 24h after Abx

Answer 161

- Caused by human herpes virus 6+7 | - Classically most children infected by age 2, often from oral secretions of a family member

Answer 162

- High fever (up to 40) with malaise lasting a few days + then settles suddenly - As fever settled, followed by generalised macular rash (chest > limbs) - Common cause of febrile convulsions

Answer 163

- Often full recovery in a week with no school exclusion if well

Answer 164

- Caused by parvovirus B19, outbreaks common during spring months - Infects red cell precursors in bone marrow > ?complications - Respiratory secretions, vertical transmission + transfusions

Answer 165

- Prodromal Sx = fever, malaise, headache, myalgia - Followed by classic rose-red rash on face week later (slapped-cheek) - Progresses to maculopapular, 'lace-like' rash on trunk + limbs

Answer 166

- Aplastic crisis (most serious) more common in chronic haemolytic anaemias like sickle cell, thalassaemia + in immunocompromised - Vertical transmission can lead to foetal hydrops + death due to severe anaemia

Answer 167

- Direct invasion of bacteria = abscess, cellulitis, impetigo - Toxin-mediated (indirect) = toxic shock, food poisoning - Toxin-mediated (direct) = SSS

Answer 168

- Infections of hair follicles or sweat glands by s. aureus | - Systemic Abx + occasionally surgery

Answer 169

- Localised, highly contagious infection by S. aureus or Strep pyogenes - Children with pre-existing skin disease (atopic eczema) - Rapidly by autoinoculation by infected exudate

Answer 170

- Non-bullous + bullous

Answer 171

- Pustules or vesicles typically around nose or mouth | - Exudate dries > golden crust, itchy but usually not unwell

Answer 172

- Epidermolytic toxins breakdown proteins that hold skin cells together > fluid-filled vesicles (bullae) - Rupture + fluid exudation > classic golden/honey crusted lesions - More common in neonates or <2y, commonly systemically unwell

Answer 173

- Risk of SSSS | - Post-strep glomerulonephritis

Answer 174

- Swab vesicles, avoid sharing towels, cutlery, try not to scratch - Hydrogen peroxide 1% cream (or mupirocin) - PO flucloxacillin if severe + systemically unwell - School exclusion until lesions crusted + healed or 48h after Abx

Answer 175

- Caused by type of S. aureus that produces epidermolytic toxins that breakdown proteins that hold skin together - Children <5y as when older, immunity to toxins - Steven-Johnson's syndrome

Answer 176

- Starts as generalised patches of erythema on the skin, skin looks thin + wrinkled - Bullae formation which burst + leave very sore, erythematous skin below (like a burn/scald) - Nikolsky sign = gentle rubbing causes peeling - Systemic Sx = fever, lethargy, dehydration > sepsis

Answer 177

- Most need admission for IV flucloxacillin, fluid balance + analgesia

Answer 178

- Toxin producing S. aureus + group A strep released from infection - Acts as a superantigen to cause multi-organ dysfunction - Tampons being left in, female barrier contraceptive

Answer 179

- Fever ≥39 - Hypotension (shock) - Diffuse erythematous rash - Desquamation of rash (esp. palms + soles) 1-2w after - Multi-organ dysfunction

Answer 180

- GI = D+V - CNS = confusion - Thrombocytopenia - Renal failure - Hepatitis - Clotting abnormalities

Answer 181

- Severe subcutaneous infection with severe pain + systemic illness - Staph aureus or strep pyogenes ± another synergistic anaerobic organism

Answer 182

- Acute onset, painful erythematous lesion - Necrotic skin affecting all skin layers down to fascia + muscle - May be complication from cellulitis infection in soft tissues

Answer 183

- IV Abx (flucloxacillin) PLUS surgical debridement | - ?ICU, ?IVIg

Answer 184

- HSV1 = lip + skin lesion, HSV2 = genital lesions | - Enters via mucous membranes or skin (kissing, genital contact, vertical transmission at birth)

Answer 185

- Gingivostomatitis - Cold sores on lip - Eczema herpeticum - Herpetic whitlows - Eyes = blepharitis or conjunctivitis - CNS = aseptic meningitis, encephalitis

Answer 186

- Vesicular lesions on lips, gums, tongue which can lead to painful ulceration + bleeding - High fever, miserable child, oral intake may hurt - Supportive but PO aciclovir if severe, chlorhexidine mouthwash

Answer 187

- Widespread vesicular lesions with pus developing on eczematous skin - Fever, lethargy, lymphadenopathy - Secondary bacterial infection + septicaemia - IV aciclovir as life-threatening, bacterial infection will need Abx

Answer 188

- Painful pustules on site of broken skin on fingers | - Infected adult kissing a child's finger

Answer 189

- Mainly vertical | - Rarely = sexual abuse, needles

Answer 190

- Mild = lymphadenopathy or parotitis - Mod = recurrent bacterial infections, candidiasis, recurrent diarrhoea - Severe = pneumocystis jiroveci, severe failure to thrive, encephalopathy

Answer 191

- Persistent lymphadenopathy - Hepatosplenomegaly - Recurrent fever - Parotitis - Serious, persistent, unusual, recurrent (SPUR) infections

Answer 192

- <18m cannot use antibody (transplacental HIV IgG if exposed anyway) - 2x HIV DNA PCR blood test (double negative to exclude) for viral load – Within first 3m + at least 2w after completion of postnatal antiretroviral

Answer 193

- Antiretrovirals based on viral load + CD4 count - Co-trimoxazole prophylaxis (PCP) - ?Additional vaccines but not BCG as live - Regular follow up, check development, psychological support - Safe sex education when older

Answer 194

- Lung lesion + (mediastinal) lymph nodes = Ghon or primary complex - Primary infection > caseating granulomas followed by period of dormancy with ?reactivation (secondary TB) - If immune system unable to cope it disseminates > miliary TB

Answer 195

- Pleura, CNS, pericardium, lymph nodes, GI/GU tract - Immunocompromised, overseas contact, homeless, IVDU, alcoholics - Majority cases are in Africa + Asia (India, China)

Answer 196

- Prolonged fever - Haemoptysis - Cough - Malaise - Anorexia - Weight loss

Answer 197

- Mantoux 'tuberculin' test - Interferon gamma release assays - 3x samples of sputum MC&S = gold standard - CXR

Answer 198

i) >15mm suggests active TB, 6-15mm ?previous exposure (may be BCG) ii) Confirms latent TB + differentiates from BCG iii) Acid fast bacilli stain red with Ziehl-Neelson stain on Lowenstein-Jenson culture medium iv) Patchy consolidation, pleural effusions, hilar lymphadenopathy

Answer 199

- Pleural + pericardial effusions - Lung collapse - Lung consolidation

Answer 200

- BCG for high risk neonates (FHx, relatives from countries with high TB rate) - Contact tracing - Notifiable to PHE

Answer 201

- Rifampicin (6m) - Isoniazid (6m) - Pyrazinamide (2m) - Ethambutol (2m)

Answer 202

i) Red urine, CYP450 inducer ii) Peripheral neuropathy (I'm-so-numb-azid) = co-prescribe pyridoxine (vit B6) after puberty as prophylaxis iii) Gout due to hyperuricaemia, rash iv) Optic neuritis, reduced acuity + colour (eye-thambutol)

Answer 203

- Isoniazid (+ vit B6) for 6m | - Isoniazid (+vit B6) + rifampicin for 3m

Answer 204

- Induce T + B cell (antibody) immunity - Induce immunological memory - Herd immunity to protect those who haven't been immunised

Answer 205

- Not adjusted for prematurity, give chronologically | - Babies born <28w should receive first set in hospital due to risk of apnoea

Answer 206

- Active = give part of pathogen either non-living or attenuated (live but weak) - Passive = give them antibodies to pathogen (natural = cross-placental transfer, artificial = treated with human IgG)

Answer 207

- MMR, BCG, nasal flu, rotavirus + Men B | - Can give fever, advise normal + administer paracetamol

Answer 208

i) 6-in-one (diphtheria, tetanus, pertussis = DTaP, polio = IPV, HiB + Hep B), Men B + rotavirus ii) 6-in-one, rotavirus + PCV iii) 6-in-one, men B

Answer 209

i) Men B, PCV, Hib/Men C + MMR ii) MMR, 4-in-one preschool booster = DTaP + IPV iii) HPV iv) 3-in-1 teenage booster = tetanus, diphtheria + IPV, men ACWY

Answer 210

- Babies born to mothers with hepatitis B = hep B - Neonates at TB risk = BCG - Children 6m-17y with chronic health conditions get yearly flu vaccine (nasal yearly flu normally 2–10y)

Answer 211

i) Neonate, 1m and 1y (as well as 2m, 3m, 4m as normal schedule) ii) Neonate

Answer 212

- 'Stork mark' - Most common vascular birthmark - Flat red or pink patches on baby's eyelids, neck or forehead at birth - Fade completely in few months

Answer 213

- 'Strawberry mark' - Raised marks on skin often red, F>M - Not present at birth, appear in first month, increase in size then shrink + disappear - Normally self-limiting, beware over eye + airway

Answer 214

- 'Port wine stain' = permanent, often unilateral - Present at birth + grows with infant, treated with laser therapy - Seen in Sturge-Weber syndrome (neuro Sx)

Answer 215

- Mole, can be multiple present in Turner's - 'Mongolian blue spot', disappear by 4, commonly lower back/buttocks, more common in non-Caucasian - Bruising + NAI so important to document

Answer 216

- Flat, light brown patches on skin | - >5 = neurofibromatosis

Answer 217

i) Milk spots (sebaceous plugs where sweat glands plugged by sebum), normal ii) Erythema toxicum neonatorum by histamine reaction = self-limiting red blotches with eosinophils on biopsy

Answer 218

- Chronic atopic condition caused by defects in normal continuity of skin barrier leaving tiny gaps for irritants, microbes + allergens to enter + trigger immune response - Leads to inflammation of the skin

Answer 219

- Infants = dry, red, itchy + sore patches of skin over face + trunk - Young children = extensor surfaces - Older children = mostly on flexor surfaces (creases), face + neck creases

Answer 220

- Opportunistic bacterial infection as skin breakdown leaves entry, particularly S. aureus – Presents as increased erythema, yellow crust, pustules – PO flucloxacillin or admit for IV if severe - Eczema herpeticum

Answer 221

- Avoid triggers (weather, stress, wash/cleaning products) | - Maintenance = artificial skin barrier with emollients (E45), special soap substitutes

Answer 222

- Thicker emollients (hydromol or epaderm) - Topical steroids (start with hydrocortisone > betnovate > dermovate) - Wet wraps = cover affected areas in thick emollient with wrap to keep moisture overnight - Severe = PO ciclosporin, corticosteroids

Answer 223

- Thinning of skin - Telangiectasia - Bruising

Answer 224

- Chronic autoimmune condition where abnormal T-cell activation > hyperproliferation of keratinocytes + so psoriatic skin lesions - HLA-B13, environmental triggers (alcohol, stress, group A strep)

Answer 225

- Plaque - Guttate 'rain-drop' - Erythrodermic + pustular

Answer 226

- Well-demarcated, raised, silvery scaling lesions on extensor surfaces (elbows + knees) - Scalp involvement, most often at hair margin

Answer 227

- Explosive eruption of very small circular plaques on trunk, often 2w after strep throat - Common in paeds, resolves in 3-4m

Answer 228

- Most severe + life-threatening - Widespread inflammation of skin > extensive erythematous areas or pustules under areas of erythema - Systemic = pyrexia, malaise - Admit

Answer 229

- Koebner phenomenon = new plaques of psoriasis at sites of skin trauma - Residual pigmentation of skin after lesions resolve - Auspitz sign = small points of bleeding when plaques scraped off - Nail changes (pitting + onycholysis)

Answer 230

- 10–20% develop psoriatic arthritis | - Increased risk of CVD, metabolic syndrome, VTE

Answer 231

- 1st line = topical steroids, topical vitamin d analogues (calcipotriol) - 2nd line = UV phototherapy - 3rd line = immunosuppression with methotrexate or biologics

Answer 232

- Irritant dermatitis = friction between skin/nappy + contact with urine + faeces - Candida dermatitis = due to breakdown in skin + the warm, moist environment

Answer 233

- Irritant = sore, red, inflamed skin but spares the skin creases - Candida = involves skin creases, satellite lesions (small similar lesions near edges of principle lesion) + may have oral thrush

Answer 234

- Delayed changing of nappies - Diarrhoea - Irritant soap products + vigorous cleaning - PO Abx predispose to Candida

Answer 235

- Highly absorbent nappies - Maximise time not wearing + ensure dry before replacing nappy - Change nappy + clean skin ASAP - Water or gentle alcohol-free products to clean - Topical imidazole if candida

Answer 236

- Inflammatory skin condition that affects sebaceous glands which produce oil - Sebaceous glands plentiful at scalp, nasolabial folds + eyebrows

Answer 237

- Infantile (cradle cap) = erythematous scaly eruption, yellow, not itchy - Scalp = flaky, itchy skin on scalp (dandruff) - Face + body = widespread red, flaky, crusted itchy skin > eyelids, nasolabial folds, upper chest + body

Answer 238

i) 1st line = baby shampoo + olive oil (petroleum jelly can be used overnight to soften + wash in morning), severe = mild topical steroids (1% hydrocortisone) ii) Ketoconazole shampoo or topical steroids iii) 1st line = anti-fungal creams (clotrimazole) or topical steroids

Answer 239

- Disproportional immune response causes epidermal necrosis > blistering + shedding of top layer of skin - SJS = <10% body surface, toxic epidermal necrolysis affects >10%

Answer 240

- Meds = AEDs, Abx, allopurinol, NSAIDs | - Infections = herpes simplex, mycoplasma pneumonia, CMV, HIV

Answer 241

- Non-specific Sx of fever, cough, sore throat + itchy skin - Develop purple/red rash that spreads across skin, starts to blister - Few days later skin sheds leaving raw tissue underneath = PAINFUL - Can involve lips + mucous membranes, urinary tract, lungs - Eyes can become inflamed + ulcerated

Answer 242

- Secondary infection - Permanent skin damage due to skin involvement + scarring - Visual complications such as severe scarring or even blindness

Answer 243

- Admission as medical emergency, cease causative meds - Nutritional care, Abx, analgesia, ophthalmology input - Steroids, immunoglobulins + immunosuppressants by specialists

Answer 244

- Pediculus capitis = parasitic insects that infest hairs + feed on blood from scalp - Direct head-head contact so often schools

Answer 245

- Infestation causes itchy scalp - Suboccipital lymphadenopathy - Nits (eggs) + lice visible with Dx on fine-toothed combing of hair

Answer 246

- Dimeticone 4% or malathion 0.5% lotions, leave overnight then wash off (repeat 7d later to kill any head lice hatched since) - Special fine combs + wet combing (bug-busting) every 3–4d for 2w

Answer 247

- Infestation of mites (Sarcoptes scabiei) that burrow under skin + lay eggs - Can take 8w for Sx (delayed type 4 hypersensitivity reaction)

Answer 248

- Very itchy burrows, papules + vesicles (may be track marks from mites) - Classic location between finger webs, can spread to whole body - Suspect if child + family itching

Answer 249

- Crusted scabies = serious infestation in immunocompromised – Patches of red skin > scaly plaques, may not itch – Rx inpatient with PO ivermectin + isolation (v contagious) - Scratching leads to excoriation + secondary bacterial infection

Answer 250

- Very contagious so ALL close contacts Tx > school exclusion until treated - Wash bed linen, towels, clothes + clean furniture to destroy mites - 5% permethrin cream to cover whole body for 8–12h then wash it off, repeat in 1w - Malathion 0.5% cream second line

Answer 251

- Erythematous rash caused by hypersensitivity reaction - Commonly viral infections + meds – HSV + mycoplasma pneumoniae – Penicillin, NSAIDs, OCP, allopurinol, carbamazepine

Answer 252

- Widespread, itchy, erythematous rash - Target lesion = red rings within larger red rings with darkest red at centre - Mucosal involvement in major - Systemic flu-like Sx = mild fever, muscle + joint aches

Answer 253

- Most mild + resolve spontaneously | - Severe = hospital (fluids, steroids, analgesia)

Answer 254

- Inflammation of subcutaneous fat due to a hypersensitivity reaction - Tender red subcutaneous nodules, typically across both shins

Answer 255

- Acute = strep throat, primary TB, meds (COCP, penicillin) | - Chronic - IBD, sarcoidosis (rare), lymphoma, leukaemia

Answer 256

- Exclude underlying = CRP/ESR, throat swab, CXR, faecal calprotectin - Conservative = rest + analgesia, steroids may settle inflammation

Answer 257

- Caused by molluscum contagiosum virus (type of pox virus) | - Direct contact, sharing towels or bedsheets

Answer 258

- Small, flesh coloured papules that classically have a central dimple - Often appear in crops, with multiple lesions in local area - Scratching/picking can lead to spreading, scarring + infection

Answer 259

- Often self-limiting but can take up to 18m, avoid sharing towels - Very extensive lesions or in problematic areas (eyelid, anogenital) can try removal

Answer 260

- Squeezing to remove - Mild topical steroid for itching - Surgical cryotherapy (freeze with silver nitrate) but may cause scarring

Answer 261

- Itchy, circular erythematous + scaly well-demarcated rash (fungal) - Often several rings or circular shaped areas that spread outwards - #1 = trichophyton - Spread via infected people, animals or soil

Answer 262

- Tinea capitis (scalp) = scaly + patchy alopecia - Tinea pedis (foot aka Athlete's foot) = itchy, peeling skin between toes - Tinea cruris (groin) - Tinea corporis (body) - Onychomycosis (fungal nail infection) = thick, discoloured + deformed nails

Answer 263

- Microscopic exam of skin scrapings for fungal hyphae

Answer 264

- Anti-fungal cream = clotrimazole, miconazole - PO anti-fungals = fluconazole (body) - Anti-fungal shampoo = ketoconazole - Treat animal (dog/cat) if source - Do NOT use steroids as makes fungal rashes worse

Answer 265

- Fluid constituents + bag size = NaCl 0.9% + dextrose 5% + KCl 10mmol (500ml) - Rate of administration in ml/hour - Signature

Answer 266

- Weight ([Age + 4] x 2), including weight change - Fluid input/output in past 24h - Fluid status (dehydrated) - Recent bloods (electrolytes)

Answer 267

- 0.9% NaCl + 5% dextrose + KCl 10mmol - 100ml/kg/day for first 10kg - 50ml/kg/day for next 10kg - 20ml/kg/day for every kg after 20kg - Divide by 24 = ml/hour

Answer 268

- <5% = slight thirst, dry lips - 5-10% = sunken eyes, reduced skin turgor, decreased urine output, dry lips + mucous membranes (no shock) >10% = reduced GCS, cold, mottled peripheries, anuria, sunken fontanelle, CRT >2s, hypotension (late)

Answer 269

- (Well weight [kg] – current weight [kg]) ÷ well weight | - % dehydration x 10 x weight (kg)

Answer 270

- Given in shock - 0.9% NaCl at 20ml/kg over <10m - After >3 boluses call for paeds intensive care support as risk > pulmonary oedema

Answer 271

- Trauma, primary cardiac pathology (heart failure), DKA (after first 20ml/kg) - 10ml/kg boluses to prevent pulmonary oedema

Answer 272

- Day 1 = just 10% dextrose - From day 2 = Na (3mmol/kg/day) + K (2mmol/kg/day) - Day 1 = 60ml/kg/day - Day 2 = 90ml/kg/day - Day 3 = 120ml/kg/day - Day 4 + beyond = 150ml/kg/day

Answer 273

- Warm + dry baby ASAP by vigorous drying (may stimulate breathing) - Heat lamp - Babies <28w in plastic bag while still wet + manage under heat lamp

Answer 274

- APGAR at 1, 5 + 10m - Stimulate breathing with vigorous drying - Place baby's head in neutral position to keep airway open (towel under shoulder can help)

Answer 275

Inflation breaths if gasping or not breathing – - 2 cycles of 5 inflation breaths - No response + HR low = 30s of ventilation breaths - No response, HR <60bpm = chest compressions (3:1 with ventilation breaths)

Answer 276

- Danger = ensure safety - Unresponsive = shout for help - Open airway = head tilt + chin lift or jaw thrust - Look, listen + feel for breathing (noisy gasps do not count)

Answer 277

- 5 rescue breaths - Infants = neutral position, cover mouth + nose with whole mouth - >1y = head tilt chin lift, pinch soft part of nose + seal mouths - Ensure chest rise/fall for effectiveness (if not ?obstruction or try jaw thrust) - Note any gag or cough response to actions as sign of life

Answer 278

Check circulation – - Infant = brachial or femoral - Child = femoral or carotid - If pulse felt = continue rescue breathing until child takes over

Answer 279

- Chest compressions 15:2 rescue breaths - Depress sternum by one-third depth of chest - Rate of 100-120bpm

Answer 280

- Infant = tips of two fingertips or encircle with thumbs - >1y = heel of 1 hand on lower sternum - Larger = 2 hands interlocked as for adults

Answer 281

- Loud, responsive, able to breathe, verbal | - Encourage cough + continue to observe for deterioration or until obstruction relieved

Answer 282

- Unable to vocalise/breathe, cyanosis, silent/quiet cough - Conscious = 5 back blows, 5 thrusts - Unconscious = open airway, 5 breaths, CPR

Answer 283

- Chest thrusts for infant, abdominal if >1y - Infants head down prone for back blows, supine for thrusts - Back blows more effective if child's head down

Answer 284

i) Apnoea, RDS, bronchopulmonary dysplasia, infections ii) Necrotising enterocolitis, neonatal jaundice, feeding issues iii) Cerebral palsy, hearing/visual impairment, intraventricular haemorrhage iv) Hypoglycaemia, hypocalcaemia, electrolyte, fluid imbalance + hypothermia

Answer 285

- Unable to suck + swallow until 33–34w so will need NG | - Build feeds up slowly to reduce risk of NEC

Answer 286

i) Lack of glycogen stores ii) Kidneys + parathyroid not fully developed iii) Excess losses through skin

Answer 287

- Periods where breathing stops spontaneously for >20s (or shorter periods with oxygen desaturation or bradycardia - Common, esp <28w

Answer 288

- Immature autonomic nervous system as brainstem not fully myelinated until 32–34w so pontine resp centre not fully developed - Hypoxia, infection, CNS pathology, GOR

Answer 289

- Gentle tactile stimulation when alerted by apnoea monitors - Resp stimulant like IV caffeine - May need CPAP if frequent

Answer 290

- Inadequate surfactant > high surface tension within alveoli - Leads to atelectasis (lung collapse) as more difficult for alveoli + lungs to expand so there's inadequate gas exchange > hypoxia, hypercapnia + respiratory distress

Answer 291

- Prematurity #1 - Maternal DM - 2nd premature twin - C-section

Answer 292

- Tachypnoea >60bpm - Increasing oxygen need - Laboured breathing = sternal + subcostal indrawing, nasal flaring, grunting - Cyanosis if severe

Answer 293

CXR – - Reticular "ground-glass" changes - Heart borders indistinct - Air bronchograms

Answer 294

- Short = pneumothorax, infection, apnoea, necrotising enterocolitis - Long = bronchopulmonary dysplasia, retinopathy of prematurity

Answer 295

- Antenatal dexamethasone | - Increases surfactant production

Answer 296

- Assisted ventilation by CPAP keeping lungs inflated or intubation if severe - Endotracheal surfactant via endotracheal tube - Supplementary oxygen for SpO2 91–95% - Breathing support gradually stepped down as baby develops

Answer 297

- Premature babies often <28w diagnosed when infant requires oxygen therapy after they reach 36w gestation

Answer 298

- Reduced lung volume + reduced alveolar surface area > diffusion defect - Suffer with RDS, need oxygen therapy or ventilation + intubation at birth

Answer 299

- Increased work of breathing (tachypnoea, nasal flaring, recessions, low SpO2) - Crackles + wheezes on auscultation - Poor feeding + weight gain - Increased susceptibility to infection

Answer 300

- CXR = widespread areas of opacification, cystic changes, fibrosis - Formal sleep study to assess SpO2 during sleep supports Dx + guides Mx

Answer 301

- Corticosteroids to mothers in premature labour <34w - CPAP rather than intubation where possible - Use caffeine to stimulate resp effort - Do not over oxygenate

Answer 302

- Some babies go home with low dose oxygen, weaned over first year - Monthly IM palivizumab for RSV (+ bronchiolitis) protection

Answer 303

- Disorder affecting premature neonates where part of bowel becomes necrotic - Associated with bacterial invasion of ischaemic bowel wall

Answer 304

- Very LBW + premature - Formula feeds (breast milk protective) - RDS + assisted ventilation - Sepsis - PDA + other CHD

Answer 305

- Bilious vomiting - Intolerance to feeds - Distended, tender abdo with absent bowel sounds - Bloody stools

Answer 306

- Blood culture (sepsis) - CRP - Capillary blood gas = metabolic acidosis - AXR is diagnostic

Answer 307

- Dilated loops of bowel - Bowel wall oedema (thickened bowel walls) - Pneumatosis intestinalis (intramural gas) - Pneumoperitoneum (free gas in peritoneum = perf) - Football sign = air outlining falciform ligament - Rigler's sign = air both inside/outside bowel wall - Gas in portal veins

Answer 308

- Dead bowel > perforation + peritonitis > sepsis + shock - Stricture formation - Short bowel syndrome (malabsorption) if extensive resection required

Answer 309

- A–E if shocked, ?artificial ventilation, ?circulatory support - Broad spec Abx 1st, NBM with IV fluids + total parenteral nutrition (NG to drain gas + fluid from stomach + intestines) - Surgical emergency > laparotomy for perforation

Answer 310

- Abnormally high levels of bilirubin in the blood - RBCs contain unconjugated bilirubin, they breakdown + release it into blood, conjugated in liver + excreted via biliary system (GI tract) or urine

Answer 311

- LBW - Breastfeeding - Prematurity - FHx - Maternal diabetes

Answer 312

- <24h = always pathological, usually haemolytic disease - 24h–2w = common - >2w = also bad

Answer 313

- Haemolytic diseases #1 = rhesus or ABO incompatibility, G6PD, spherocytosis - Congenital infection (TORCH), sepsis

Answer 314

- Physiological + breast milk jaundice (common) - Infection (UTI, sepsis) - Haemolysis, polycythaemia, bruising - Crigler-Najjar syndrome (rare inherited disorder with no UGT enzyme)

Answer 315

- Unconjugated = physiological or breast milk, UTI, hypothyroid, high GI obstruction (pyloric stenosis), Gilbert syndrome - Conjugated (>25umol/L) = bile duct obstruction (biliary atresia), neonatal hepatitis

Answer 316

- Yellow skin/sclera (may be more visible when outside in sunlight) - Persistent or prolonged jaundice worrying (>2w full term, >3w preterm)

Answer 317

- High concentration of RBCs in neonate which are more fragile with shorter life - Less developed liver - Foetal RBCs breakdown more rapidly releasing lots of bilirubin > normal rise in bilirubin = mild jaundice from 2–7d

Answer 318

- Only when all other causes excluded | - Usually completely resolves by 10d, most babies otherwise healthy

Answer 319

- Components of breast milk inhibiting liver to process bilirubin - Increased bilirubin absorption - Inadequate feeds > slow passage of stools

Answer 320

- AR deficiency of UDP-glucuronyltransferase = defective bilirubin conjugation - Unconjugated hyperbilirubinaemia (not in urine), jaundice may only be present if ill, exercising or fasting

Answer 321

- FBC + blood film (polycythaemia, G6PD, spherocytosis) - Bilirubin levels - Blood type testing of mother + baby for ABO/Rh incompatibility - Direct Coombs (antiglobulin) test for haemolysis - TFTs, LFTs + urine MC&S

Answer 322

- Split bilirubin = unconjugated (extra-hepatic) or conjugated (hepatobiliary) - >24h old = transcutaneous bilirubin meter if high, serum to confirm within 6h - <24h old = serum bilirubin within 2h

Answer 323

- Kernicterus - Bilirubin-induced encephalopathy caused by unconjugated bilirubin deposition in brain (basal ganglia + brainstem nuclei) as baby's BBB are not well developed

Answer 324

- Prematurity as immature liver - Lethargy, poor feeding > hypertonia, seizures + coma - Permanent damage = dyskinetic cerebral palsy, LD + deafness

Answer 325

- Bilirubin Tx threshold charts, plot age of baby against total bilirubin level + treat once at threshold - Phototherapy (450mm wavelength blue-green band) - Exchange transfusion if severe

Answer 326

- Converts unconjugated bilirubin > water-soluble pigment that can be excreted in urine, cover infant's eyes - Temp instability, macular rash, bronze discolouration

Answer 327

- Congenital condition where section of bile duct either narrowed or absent - Results in cholestasis as bile cannot be transported from liver>bowel so increase in conjugated bilirubin

Answer 328

- Prolonged jaundice >2w - Pale stools + dark urine (obstructive pattern) - Failure to thrive - Hepatosplenomegaly

Answer 329

- Serum split bilirubin = conjugated elevated - USS abdo gold standard for Dx, laparotomy confirms - Associated with CFC1 gene mutations

Answer 330

- Kasai portoenterostomy (attach section of small intestine to opening of liver where bile duct attaches) - Some will need full liver transplant - Success decreases with age so early Dx crucial

Answer 331

- Cystic dilatations of extrahepatic biliary system - Cholestatic jaundice, Dx with USS or radionucleotide scanning - Cholangitis + small risk of malignancy - Surgical cyst excision

Answer 332

- Prolonged neonatal jaundice + hepatic inflammation | - IUGR, hepatosplenomegaly at birth, failure to thrive + dark urine

Answer 333

- Deranged LFTs with raised unconjugated + conjugated bilirubin - Liver biopsy = multinucleated giant cells + Rosette formation

Answer 334

- Congenital infection - Alpha-1-antitrypsin (A1AT) deficiency - Galactosaemia - Wilson's disease

Answer 335

- Deficiency of protease A1AT which inhibits neutrophil elastase + protects tissues - AR on chromosome 14 - Prolonged neonatal jaundice (cholestasis), worse on breast feeding, can have (prolonged) bleeding due to vitamin K deficiency, COPD

Answer 336

- Serum A1AT concentration - ?Transplantation - Never smoke

Answer 337

- Deficiency of galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism (lactose breaks down into galactose) - Poor feeding, vomiting, jaundice + hepatomegaly when fed milk

Answer 338

- Rapidly fatal course with shock, DIC + haemorrhage due to gram -ve sepsis - Liver failure, cataracts + Developmental delay if untreated

Answer 339

- Stop cow's milk, breastfeeding C/I - Dairy-free diet - IV fluids

Answer 340

- Reduced synthesis of caeruloplasmin (normally binds to copper + allows it to be excreted with bile) - AR on chromosome 13

Answer 341

Sx of copper accumulation - Eyes (Kayser-Fleischer rings) - Brain (Parkinsonism + psychosis) - Kidneys (vit D resistant rickets) - Liver (jaundice)

Answer 342

- 24h urine copper assay (high), serum caeruloplasmin (low) | - Penicillamine for copper chelation

Answer 343

- In perinatal asphyxia, gas exchange, either placental or pulmonary is compromised or ceases resulting in cardiorespiratory depression

Answer 344

- Hypoxia, hypercarbia + metabolic acidosis | - Compromised cardiac output reduces tissue perfusion > hypoxic ischaemic injury to brain

Answer 345

- Anything leading to asphyxia = maternal shock, intrapartum haemorrhage, prolapsed or nuchal cord, placental abruption

Answer 346

Sarnat staging – - Mild = poor feeding, generally irritable + hyperalert, resolves in 24h - Moderate = poor feeding, lethargic, hypotonic, seizures, can take weeks to resolve - Severe = reduced GCS, apnoeas, flaccid + reduced/absent reflexes, half die

Answer 347

- Permanent brain damage > cerebral palsy | - Moderate = 40%, severe = 90%

Answer 348

MDT resus – - Dry baby, APGAR, resp support - Treat seizures, EEG - Treat hypotension by volume + inotropes - Monitor + treat electrolytes

Answer 349

- Therapeutic hypothermia to protect brain from hypoxic injury - Cooled to PR temp 33–34 for 72h to reduce brain damage

Answer 350

- Haemorrhage in the ventricular system | - Following perinatal asphyxia + in infants with severe RDS

Answer 351

- Typically germinal matrix above caudate nucleus which contains fragile network of blood vessels - Large haemorrhages may impair drainage + reabsorption of CSF > hydrocephalus

Answer 352

- Cranial USS - Sx relief with removal of CSF by LP or ventricular tap - Ventriculoperitoneal shunt may be needed for hydrocephalus

Answer 353

- No agreed definition but <2.6mmol/L often used - Preterm + IUGR = lack of glycogen stores - Maternal DM = infantile hyperinsulinaemia - LGA, polycythaemia or ill - Transient hypoglycaemia common in first hours after birth

Answer 354

- Jitteriness, irritability, apnoea - Lethargy, drowsiness + Seizures - Long-term may cause permanent neuro disability

Answer 355

- Regular bedside BM - Prevent by early + frequent feeding - IVI 10% dextrose (central venous catheter if higher concentration of dextrose to prevent skin necrosis) to maintain glucose >2.6mmol/L

Answer 356

- Affects developing blood vessels at junction of the vascular + non-vascularised retina - Retinal blood vessel formation is stimulated by hypoxia so hyperoxic insult can prevent this - Retina responds with vascular proliferation which may progress to retinal detachment, fibrosis + blindness

Answer 357

- Use of high oxygen conc, very LBW (<1.5kg), premature babies <32w - Plus disease describes other findings like tortuous vessels + hazy vitreous humour

Answer 358

- Regular eye screening by ophthalmologist for susceptible preterm infants (<1.5kg or <32w), must visualise all retinal areas - Transpupillary laser photocoagulation to halt + reverse neovascularisation

Answer 359

- Failure of pleuroperitoneal cavity to close completely | - Most common is Bochdalek hernia (L sided posterior-lateral)

Answer 360

- Resp distress, lung hypoplasia (prevents lungs to develop throughout pregnancy) + pulmonary HTN - Heart sounds louder on R, poor air entry on L - Tinkling bowel sounds

Answer 361

- Often Dx on antenatal USS, CXR = bowel in lungs | - NG feeding, intubation + ventilation prior to surgery

Answer 362

- Vaginal GBS colonisation - GBS sepsis in previous baby - Maternal sepsis - Fever >38 - Chorioamnionitis - PPROM - Preterm babies

Answer 363

- GBS (strep. agalactiae) from genital tract #1 (mostly pneumonia, also meningitis) - E. Coli, Klebsiella, S. aureus - Listeria monocytogenes (unpasteurised milk, soft cheese, undercooked poultry) – Can also cause spontaneous abortion + preterm delivery

Answer 364

i) Birth canal | ii) Environment (catheters, tracheal tubes, bloods) = mostly strep epidermidis

Answer 365

- Fever or hypothermia - Poor feeding + vomiting, hypoglycaemia - Apnoea, resp distress (grunting, nasal flaring) + tachycardia - Seizures, jaundice

Answer 366

Septic screen – - FBC, CRP, blood cultures - Blood gas (metabolic acidosis worrying) - Urine MC&S - CXR - LP for CSF sample

Answer 367

- High risk GBS women are screened or offered intrapartum Abx

Answer 368

- Treatment before culture results - IV benzylpenicillin (gram +ve) + gentamycin (gram -ve) = 1st line - Consider 3rd gen cephalosporin (IV cefotaxime) if lower risk - Maintain oxygenation, normal fluid + electrolytes, prevent/manage metabolic acidosis + hypoglycaemia

Answer 369

- Check CRP 24h after presentation, re-check at 5d if still on treatment - At 48h if cultures negative + CRP <10mg/L = stop Abx

Answer 370

- Main congenital conditions | - Toxoplasmosis, Other (HIV), Rubella, CMV, Herpes + Syphilis

Answer 371

- Cerebral calcification, chorioretinitis + hydrocephalus

Answer 372

- Most common congenital infection - Herpes simplex virus via personal contact - No therapy so no screening

Answer 373

- 90% normal at birth - 5% = hepatosplenomegaly, petechiae at birth, growth issues, neurodevelopmental disabilities (cerebral palsy, epilepsy, microcephaly) - 5% = problems later in life, mainly sensorineural hearing loss

Answer 374

- Herpetic lesions on skin or eye, encephalitis or disseminated disease - Aciclovir, high mortality in disseminated

Answer 375

- Rash on soles of feet + hands - Hutchinson's triad = keratitis, deafness, small + pointed teeth - If fully treated ≥1m before delivery = no treatment - Any doubts = benzylpenicillin

Answer 376

- Meconium may be passed due to foetal hypoxia + at birth these infants may inhale it - Lung irritant resulting in mechanical obstruction + chemical pneumonitis + predisposing to infection

Answer 377

- Post-term deliveries at 42w - Maternal HTN or pre-eclampsia - Smoking or substance abuse - Chorioamnionitis

Answer 378

- Presence of meconium or dark green staining of amniotic fluid - Respiratory distress

Answer 379

- CXR = hyperinflation, accompanied by patches of collapse + consolidation - High incidence of air leak > pneumothorax

Answer 380

- Persistent pulmonary HTN of the newborn due to high pulmonary vascular resistance - RDS, sepsis, congenital diaphragmatic hernia, maternal SSRI use, maternal NSAID use in 3rd trimester (early closure of DA)

Answer 381

- Artificial (positive pressure) ventilation with oxygenation - Suction if no breathing

Answer 382

- Detect congenital abnormalities that were not identified at birth - Check for potential problems that could arise due to FHx - Provide opportunity for parents to ask questions about baby

Answer 383

- First within 72h of birth + second by GP at 6–8w | - General observation, eyes, heart, hips + genitalia

Answer 384

- Weight, height, head circumference (HC = measure of brain size) - Palpate sutures + fontanelle - Dysmorphic features - Reflexes (grasp, sucking, rooting, moro)

Answer 385

- Red reflex (congenital cataracts, retinoblastoma) | - Movement (visual loss)

Answer 386

- HR 110–160bpm - Murmur (CHD) - Femoral pulse (coarctation) - Central cyanosis (cyanotic CHD)

Answer 387

- Barlow + Ortolani test (DDH)

Answer 388

- Testes (cryptorchidism) - Ambiguous genitalia (CAH) - Genitalia (hypospadias) - Imperforate anus (bladder/vaginal fistula)

Answer 389

- Split or open section in upper lip, can go up to the nose | - Failure of fusion of the frontonasal + maxillary processes

Answer 390

- Defect in hard or soft palate at roof of mouth which leaves an opening between the mouth + nasal cavity - Failure of the palatine processes + nasal septum to fuse

Answer 391

- Chromosomal disorder or maternal AED therapy | - Issues feeding, milk aspiration, speech delay + conductive hearing loss, recurrent otitis media (cleft palate)

Answer 392

- MDT = plastic + ENT surgeons, paeds, orthodontist, SALT - Cleft lip repair ≤3m - Cleft palate repair 6-12m

Answer 393

- Upper + lower oesophagus in 2 sections + does not connect | - Tracheo-oesophageal fistula + polyhydramnios

Answer 394

- Persistent salivation + drooling from mouth after birth - May cough + choke when fed + have cyanotic aspiration - Some have other congenital malformations (VACTERL association)

Answer 395

- Wide calibre feeding tube passed + checked by XR if reaches stomach - Continuous suction applied to tube passed into oesophageal pouch to reduce aspiration of saliva + secretions > neonatal surgical unit

Answer 396

- Congenital absence or complete closure of duodenum > intestinal obstruction - AXR shows 'double bubble' from distension of stomach + duodenal cap - Third have Down's - Correct fluid + electrolyte depletion > surgical Mx

Answer 397

- Bowel protrudes through congenital defect in anterior abdominal wall, adjacent to umbilicus but with no covering sac

Answer 398

- Socioeconomic deprivation (smoking, mum <20y) | - USS shows free loops of bowel in amniotic fluid antenatally

Answer 399

Higher risk of dehydration + protein loss – - Wrap infants in several layers of clingfilm to minimise fluid + heat loss - NG tube passed + aspirated frequently - IVI dextrose + colloid support for protein loss

Answer 400

- May attempt vaginal delivery | - Urgent repair (theatre within 4h)

Answer 401

- Abdominal contents protrude through umbilical ring, covered with a transparent sac formed by the amniotic membrane + peritoneum

Answer 402

- Other major congenital abnormalities, antenatal Dx | - C-section at 37w, staged repair as primary closure difficult

Answer 403

- Common starting day 3–4 - Usually just cleaning with water or saline - More troublesome discharge or redness of eye may be staph/strep so topical Abx eye ointment like neomycin

Answer 404

i) Purulent discharge, conjunctival injection, eyelid swelling, within 48h – Gram stain, IV ceftriaxone + cleanse frequently (can lose vision) ii) Purulent discharge, eyelid swelling, 1-2w – Immunofluorescent staining, PO erythromycin for 2w

Answer 405

- Sudden + unexpected death of infant with no adequate cause | - Most common cause of death in 1st year of life, peaks 2–4m

Answer 406

- Baby sleeping prone - Parental smoking (during pregnancy or in same room) - LBW + prematurity - Sharing a bed - Hyperthermia (over wrapping) or head covering (blanket moving)

Answer 407

- M>F - Low socioeconomic status - Infant pillow use - Maternal drug use

Answer 408

- Breastfeeding - Room (NOT bed) sharing - Use of dummies

Answer 409

- Following cot death screen siblings for sepsis + inborn errors of metabolism - Infants sleep on backs, 'feet-to-foot' position - Do not smoke near them - Bedroom for first 6m

Answer 410

- Commonest cause of resp distress in term infants - Delay in resorption of lung fluid, commoner after c-section ?fluid not 'squeezed out' during passage through birth canal

Answer 411

- Tachypnoea after birth which resolves usually 48h

Answer 412

- CXR may show hyperinflation + fluid in horizontal fissure - Dx after other causes excluded - Supplementary oxygen may be needed to maintain SpO2

Answer 413

- Ductus venosus = connects umbilical vein + IVC so blood bypasses liver (ligamentum arteriosus) - Foramen ovale = connects RA+LA so bypass RV + pulmonary circulation (fossa ovalis) - Ductus arteriosus = connects pulm. artery + aorta so blood can bypass pulm. circulation (ligamentum arteriosus)

Answer 414

- Oxygenated + nutrients at placenta for rest of body (umbilical vein) + disposes waste like CO2 + lactate (umbilical artery) - Umbilical vein > ductus venosus > RA > foramen ovale > LA > LV > rest of body > umbilical artery

Answer 415

- LA pressure low as relatively little blood returns from lungs - RA>LA pressure as RA receives all systemic venous return + blood from placenta

Answer 416

- Resistance to pulmonary blood flow falls as alveoli expand + volume of blood flowing through lungs massively increases so increased LA pressure. - Volume of blood returning to RA falls as placenta removed - LA > RAp = foramen ovale closes

Answer 417

- Ductus arteriosus will close (issue if duct-dependent CHD)

Answer 418

``` 4S's – - Soft blowing murmur - Symptomless - left Sternal edge - Systolic murmur only Common during febrile illness or anaemia as CO increases ```

Answer 419

- Normal heart sounds (none added), no parasternal thrill or radiation, may vary with posture - Louder than 2/6, diastolic, louder on standing

Answer 420

- L>R shunt (breathless) = ASD, VSD, PDA - R>L shunt (cyanotic) = ToF, TGA - Common mixing (breathless + blue) = complete AVSD, complex CHD (tricuspid atresia) - Outflow obstruction in well child = AS, PS - Outflow obstruction in sick neonate = coarctation, HLHS

Answer 421

- L>R shunt as systemic pressure is higher than pulmonary pressure - Over time, pulmonary pressure may increase beyond the systemic pressure - This is due to pulmonary HTN > increasing RH pressures + so RVH leading to shunt reversal (R>L) + so cyanosis - May have plethoric complexion due to compensatory polycythaemia

Answer 422

``` 4Ts – - ToF - TGA - Tricuspid atresia - Truncus arteriosus (Complete AVSD too) ```

Answer 423

- Hyperoxic test, better = respiratory, still cyanosed = cardiac - Complete heart block

Answer 424

- Hole in septum connecting atria as failure of septal tissue to form - L>R shunt as LAp>RAp so increased flow into R heart + lungs - Trisomy 21, foetal alcohol syndrome

Answer 425

- Ostium primum (group with AVSD) - Ostium secundum (80%) - Partial AVSD

Answer 426

- Inter-atrial communication between bottom end of atrial septum + AV valves - Abnormal AV valves with a left AV valve which has 3 leaflets + tends to leak

Answer 427

- Dyspnoea, difficulty feeding, failure to thrive, recurrent chest infections - Arrhythmia in adulthood (may need VTE prophylaxis)

Answer 428

- Fixed + widely split S2 (split does not change with inspiration/expiration) - ES murmur at upper L sternal edge (pulmonary) as increased flow across pulmonary valve by L>R shunt

Answer 429

- Often antenatal Dx - CXR = cardiomegaly, enlarged pulmonary arteries + increased pulmonary vascular markings - Primum ECG = RBBB + LAD - Secundum ASD = RBBB + RAD - ECHO is diagnostic

Answer 430

- Eisenmenger syndrome = shunt switch = cyanotic | - Stroke risk in context of VTE (can be from AF or atrial flutter)

Answer 431

- Small + asymptomatic = watchful waiting | - Large = transvenous catheter closure via femoral vein or open heart surgery

Answer 432

- Hole in the septum between the 2 ventricles, most common heart defect - L>R shunt as LVp>RVp so increased flow to R heart + lungs

Answer 433

- Trisomy 13, 18 + 21

Answer 434

- Small = ?asymptomatic - Large = heart failure with dyspnoea, failure to thrive, recurrent infections - Harsh pansystolic murmur

Answer 435

- Left lower sternal edge - Loud murmur = smaller VSD (larger = quieter) - May have systolic thrill on palpation

Answer 436

- Often antenatal Dx or murmur on NIPE - CXR + ECG often normal in small VSDs - CXR in large = cardiomegaly, increased pulmonary vascular markings ± pulmonary oedema - ECHO is diagnostic

Answer 437

- Increased risk of infective endocarditis > Abx prophylaxis during surgery - AR, Eisenmenger's syndrome + right heart failure

Answer 438

- Small VSDs with no signs of pulmonary HTN or heart failure may watch + wait as may close spontaneously - Transvenous catheter closure via femoral vein or open-heart surgery

Answer 439

i) Obstructed or duct-dependent systemic circulation (HLHS, severe coarctation) ii) High pulmonary blood flow (VSD, AVSD, large PDA) iii) Eisenmenger's syndrome (RHF), rheumatic disease, cardiomyopathy

Answer 440

- SOB (esp. on feeding or exertion), sweating, recurrent chest infections - Poor weight gain, gallop rhythm - Cardiomegaly, cool peripheries - As a rule = increased HR, RR + creps

Answer 441

- Peripheral oedema - Hepatomegaly - TR, PS, large VSD (anything making fluid overload backwards > IVC)

Answer 442

- Furosemide (loop diuretic) - Captopril (ACEi) - Increased calories

Answer 443

- Defect in middle of heart with single 5-leaflet valve between atria + ventricles which stretches across entire AV junction + tends to leak - Large defect means pulmonary HTN too

Answer 444

- Down's syndrome (need routine ECHO) | - Cyanosis at birth with heart failure 2–3w of life, no murmur

Answer 445

- May have antenatal Dx or on routine ECHO in Down's baby | - Medical Tx for heart failure + surgical repair at 3-6m

Answer 446

- DA normally stops functioning within 1–3d - If patent, pressure in aorta higher than in pulmonary vessels so blood flows L>R - Can lead to Eisenmenger's syndrome

Answer 447

- More blood returning to left side of heart so can lead to LVH - Prematurity is key + association with maternal rubella

Answer 448

- Small may be asymptomatic or present in adulthood with heart failure - May present with SOB, difficulty feeding, failure to thrive + LRTIs

Answer 449

- Collapsing or bounding pulse as increased pulse pressure | - Continuous 'machinery' murmur heard loudest beneath the L clavicle

Answer 450

- ECHO to confirm Dx - Doppler flow studies during ECHO can assess size + characteristics - Can also assess effects of PDA on heart (LVH/RVH)

Answer 451

- Monitor until 1y with ECHOs (treat early if Sx or heart failure) - NSAIDs (indomethacin) facilitates closure of PDA as inhibits prostaglandins - After 1y unlikely to resolve so trans-catheter or surgical closure to reduce IE risk

Answer 452

- Large VSD - Pulmonary stenosis (RV outflow obstruction) - RVH - Overriding aorta (If ASD present too = pentad of Fallot)

Answer 453

- Pulmonary stenosis leads to RVp>LVp so R>L shunt and cyanosis - Cyanosis presents later than in TGA, about 1–2m

Answer 454

- Trisomy 21 + 22q deletions | - Rubella, maternal age >40, alcohol in pregnancy, maternal DM

Answer 455

- Severe cyanosis with exertional hyper-cyanotic 'tet' spells - Loud harsh ES murmur at left sternal edge (from PS) - Digital clubbing - Squatting on exercise = increased peripheral vascular resistance + decreased degree of R>L shunt so improved Sx

Answer 456

- Rapid increase in cyanosis, irritability + dyspnoea | - If severe can lead to reduced GCS, seizures + potential death

Answer 457

- May be Dx antenatally or murmur on NIPE - CXR = 'boot shaped' heart due to RVH - ECHO ± cardiac catheterisation to show anatomy + degree of stenosis

Answer 458

- Morphine for sedation + pain relief - IV propranolol as peripheral vasoconstrictor - IV fluids, sodium bicarbonate if acidotic

Answer 459

- Neonates = prostaglandin infusion to maintain ductus arteriosus to allow blood to flow from aorta > pulmonary arteries - Early surgical repair with closure of VSD + correction of pulmonary stenosis at 6m

Answer 460

- Aorta is connected to the RV, pulmonary artery is connected to LV meaning deoxygenated blood is pumped around body = cyanosis - Duct dependent lesion, associated with PDA, ASD + VSD

Answer 461

- Cyanosis at birth/day 1–2 as duct closes > life-threatening - Less severe if PDA, ASD or VSD to allow mixing - No murmur but S2 usually loud + singular - Prominent RV impulse on palpation

Answer 462

- May be Dx antenatally, pre (R arm) + post duct (foot) sats - CXR may show narrow mediastinum with 'egg on its side' appearance - ECHO confirms Dx

Answer 463

- Neonates = prostaglandin E1 infusion to maintain ductus arteriosus - Balloon atrial septostomy to create hole between 2 atria for mixing - Arterial switch procedure = open heart surgery, definitive Mx

Answer 464

- Only LV is effective, RV is small, non-functional + complete absence of tricuspid valve

Answer 465

- 'Common mixing' of systemic + pulmonary venous return in LA = cyanosis + dyspnoea - Shunt between subclavian + pulmonary artery with surgery later

Answer 466

- Arterial duct tissue encircling the aorta at the level of the ductus arteriosus which causes constriction + narrowing when the duct closes

Answer 467

- Collateral circulation forms to increase flow to the lower part of the body leading to the intercostal arteries becoming dilated + tortuous - Turner's syndrome

Answer 468

- Weak femoral pulses + radiofemoral delay - Systolic murmur between scapulas or below L clavicle - Heart failure, tachypnoea, poor feeding, floppy - LV heave (LVH) - Acute circulatory collapse at 2d as duct closes (duct dependent)

Answer 469

- 4 limb BP (R arm > L arm), pre + post-duct sats | - CXR may show cardiomegaly + rib notching (often teens + adults)

Answer 470

- ABCDE if collapse - Prostaglandin E1 infusion if critical - Stent insertion or surgical repair

Answer 471

- Under development of entire left side of heart - Mitral valve is small or atretic, LV is diminutive + usually aortic valve atresia - Ascending aorta very small + almost invariably coarctation of aorta

Answer 472

- Sickest neonates with duct-dependent circulation - No L side flow so ductal constriction > profound acidosis + rapid CV collapse - Weakness or absence of all peripheral pulses

Answer 473

- ABCDE - Prostaglandin E1 infusion to prevent duct closure - Surgical management

Answer 474

- Low insertion of tricuspid valve on right leading to larger atrium + smaller ventricle - Leads to poor RA>RV flow + so poor flow to pulmonary vessels - Associated with R>L shunt via ASD + so blood can bypass lungs > cyanosis

Answer 475

- Wolff-Parkinson-White syndrome + lithium in pregnancy

Answer 476

- Evidence of heart failure - SOB, tachypnoea, poor feeding, collapse or cardiac arrest - Gallop rhythm with S3 + S4 - Cyanosis few days after birth if ASD when ductus arteriosus closes

Answer 477

- ECG = arrhythmias, RA enlargement (P pulmonale), LAD + RBBB - CXR = cardiomegaly + RA enlargement - ECHO diagnostic

Answer 478

- Prophylactic Abx to prevent infective endocarditis | - Definitive Mx = surgical correction

Answer 479

- Aortic valve leaflets partly fused together giving restrictive exit from LV

Answer 480

- Bicuspid aortic valve + William's syndrome (supravalvular) | - Also may be mitral stenosis + coarctation of aorta too

Answer 481

- Most asymptomatic with ejection-systolic murmur at upper right sternal edge (aortic area) radiating to neck (carotid thrill) - Ejection click before murmur - Palpable systolic thrill - Slow rising pulses + narrow pulse pressure

Answer 482

- Severe = syncope, chest pain + dyspnoea on exertion | - Critical = severe heart failure + shock

Answer 483

- CXR (prominent LV), regular ECHO to assess need for interventions - LV outflow tract obstruction, heart failure + ventricular arrhythmias

Answer 484

- Balloon valvotomy/dilatation if symptomatic | - May need surgical aortic valve replacement

Answer 485

- Pulmonary valve leaflets are partly fused together giving a restrictive exit from RV - ToF, Noonan syndrome + congenital rubella syndrome

Answer 486

- Ejection systolic murmur at upper left sternal edge with ejection click - ?RV heave due to RVH - Critical PS = duct-dependent pulmonary circulation so cyanosis in first few days of life

Answer 487

- CXR normal or post-stenotic dilatation of the pulmonary artery - ECG may show RVH (upright T wave in V1) - ECHO Dx

Answer 488

- Most asymptomatic so wait until pressure gradient across pulmonary valve increases > trans-catheter balloon dilatation

Answer 489

- All children with CHD (except secundum ASD) | - Highest risk where turbulent blood flow = VSD, coarctation of aorta + PDA

Answer 490

- Infection of heart valves, septal defects or endocardial lined structures consisting of vegetations which are masses of fibrin, platelets + infectious organisms

Answer 491

- IVDU, prosthetics, structural heart defects | - Staph aureus (previous Strep Viridians)

Answer 492

- Fever, malaise, night sweats, arthralgia/myalgia | - Systemic emboli from L sided vegetations may result in brain abscess + stroke

Answer 493

- Splinter haemorrhage under nail beds - Retinal infarcts (Roth's spots) - Tender nodules on fingers + toes (Osler's nodes) - Painless erythematous palms + soles (Janeway lesions) - Microscopic haematuria

Answer 494

- FBC (WCC raised), CRP/ESR raised - Blood cultures before Abx started - Echo to look for valve vegetations - High dose IV Abx (penicillin with aminoglycoside like vancomycin) for 6w

Answer 495

- Multi-system disorder due to autoimmune response producing antibodies against group A beta-haemolytic strep pyogenes (after tonsillitis) that targets other tissues - T2 hypersensitivity reaction as immune system attacks cells throughout body

Answer 496

Jones criteria – | - Evidence of recent strep infection plus 2 major or 1 major + 2 minor criteria

Answer 497

JONES – - Joint arthritis (migratory as affects different joints at different times) - Organ inflammation (pancarditis > pericardial friction rub) - Nodules (subcut over extensor surfaces) - Erythema marginatum rash (pink rings of varying sizes on torso + proximal limbs) - Sydenham chorea

Answer 498

FEAR – - Fever - ECG changes (prolonged PR interval) without carditis - Arthralgia without arthritis - Raised CRP/ESR

Answer 499

- Throat swab for MC&S - Anti-streptococcal antibodies (ASO) titres = anti-DNase B +ve indicates strep infection (repeat after 2w to check if negative) - Echo, ECG + CXR to check cardiac involvement

Answer 500

- Recurrence - Valvular heart disease (mitral stenosis especially) - Chronic heart failure - Recurrent acute RF > scarring + fibrosis of heart valves > chronic RF

Answer 501

- Prevention by treating strep infections with 10d phenoxymethylpenicillin - Specialist Mx (NSAIDs for joint pain, aspirin + steroids for carditis) - Prophylactic 1/12 IM benzathine penicillin most effective to prevent recurrence (if not daily PO penicillin)

Answer 502

- Any child with enlarged heart + heart failure who was previously well - Large, poorly contracting heart can be inherited or secondary to metabolic disease or direct viral infection of myocardium (myocarditis)

Answer 503

- Dx by ECHO - Sx treatment with diuretics, ACEi + carvedilol (beta blocker) - Myocarditis usually improves spontaneously but some may need heart transplant

Answer 504

- Re-entry tachycardia as circuit of conduction is set up with premature activation + excitation of the atrium via an accessory pathway - Wolff-Parkinson-White syndrome accessory pathway is Bundle of Kent

Answer 505

- Sx of heart failure in young child, palpitations, dyspnoea - Narrow complex tachycardia (250-300bpm) - WPW = delta wave (slurred upstroke to QRS) with a short PR interval

Answer 506

- Vagal stimulation (carotid sinus massage, cold ice pack to face) - IV adenosine if fails - Electrical cardioversion if adenosine fails - Long term = ablation of pathway or flecainide

Answer 507

- Disorders affecting digestion or absorption of nutrients, manifests as: – Abnormal stools (difficult to flush, offensive odour) – Failure to thrive or poor growth – Nutrient deficiencies (Fe anaemia, B12 deficiency)

Answer 508

- Small intestine disease = coeliac - Exocrine pancreas dysfunction = CF - Cholestatic liver disease, biliary atresia - Short bowel syndrome (NEC, bowel removal) - Loss of terminal ileum function (resection, Crohn's, absent bile acid)

Answer 509

- Umbrella term for Crohn's disease + ulcerative colitis - Relapsing-remitting conditions involving inflammation of walls in the GI tract - Result of environmental triggers in a genetically predisposed individual

Answer 510

i) Mouth>anus, spares rectum, favours terminal ileum ii) Transmural iii) No, skip lesions iv) Yes v) Risk factor vi) Present vii) Non-caseating epithelioid cell granulomata

Answer 511

i) Colon only (never further than ileocaecal valve), starts at rectum ii) Mucosa only iii) Yes, whole colon affected iv) No v) Protective vi) Depletion vii) Increased crypt abscesses, psudeopolyps, ulcers

Answer 512

- Abdominal pain (RLQ), diarrhoea (often non-bloody) + weight loss - Failure to thrive

Answer 513

- PR bleeding (+ mucus), diarrhoea + colicky pain (LLQ) | - Tenesmus and urgency too

Answer 514

i) Perianal disease = skin tags, anal fissures, abscesses + fistulas, strictures, obstruction ii) primary sclerosing cholangitis iii) Arthritis, erythema nodosum, pyoderma gangrenosum, uveitis + episcleritis, finger clubbing

Answer 515

- FBC (microcytic anaemia, raised WCC + platelets) - U+Es - Low albumin (malabsorb) - Raised ESR/CRP - Stool MC&S - Faecal calprotectin released by intestines when inflamed (useful screening)

Answer 516

- Colonoscopy with biopsy (histology) - Crohn's = small bowel narrowing, fissuring or thickened bowel wall, cobblestone appearance - UC = visible ulcers - Further imaging (USS, CT or MRI) to look at complications of Crohn's

Answer 517

- Whole protein modular enteral feed for 6–8w can induce remission - Flares = PO prednisolone or IV hydrocortisone - Remission = azathioprine, methotrexate or mercaptopurine - Biologics (remission) = infliximab, adalimumab

Answer 518

- Surgical resection of distal ileum if only affected area | - Treat strictures + fistulas secondary to Crohn's

Answer 519

- Mild-mod = 1st line topical (rectal) aminosalicylate (5-ASA, mesalazine), add PO if remission not achieved or extensive disease, 2nd line = PO prednisolone - Severe = 1st line IV hydrocortisone, 2nd line IV ciclosporin

Answer 520

- PO/PR mesalazine, azathioprine or mercaptopurine | - Mesalazine can cause acute pancreatitis

Answer 521

- Panproctocolectomy = curative as removes disease - Pt left with permanent ileostomy or ileo-anal anastomosis (J-pouch) where ileum folded back on itself + fashioned into large pouch that functions as a rectum as it attaches to anus

Answer 522

- Gluten-sensitive enteropathy - Autoimmune response to alpha-gliadin portion of protein gluten causes inflammation in small intestine (particularly jejunum)

Answer 523

- Autoantibodies in response to gluten exposure target epithelial cells of intestine > inflammation + atrophy of the intestinal villi > malabsorption of nutrients

Answer 524

- Genetics = HLA-DQ2 + HLA-DQ8 | - T1DM, thyroid, Down's syndrome, FHx = test for it

Answer 525

- Abnormal stools (smelly, diarrhoea, floating) - Abdo pain, distension + buttock wasting - Failure to thrive, weight loss, fatigue - Dermatitis herpetiformis = itchy blistering skin rash, often on abdo - Nutrient deficiencies (B12, folate, Fe)

Answer 526

- Pt must be on gluten-containing diet to be accurate - Raised antibodies (IgA), useful to monitor disease too – anti-tissue transglutaminase (TTG = first choice), anti-endomysial - Endoscopic small intestinal biopsy = gold standard

Answer 527

- Villous atrophy - Crypt hyperplasia - Increased intraepithelial lymphocytes

Answer 528

- Anaemias - Osteoporosis - Lymphoma (EATL) - Hyposplenism - Lactose intolerance

Answer 529

- Lifelong gluten free diet = curative, supervised by dietician - May have gluten challenge later in life if Dx at <2y to ensure still intolerant - PCV vaccine with booster every 5y due to hyposplenism

Answer 530

- Absence of ganglionic cells from myenteric (Auerbach's) plexus of large bowel resulting in narrow, contracted section of bowel > large bowel obstruction

Answer 531

- 75% confined to rectosigmoid - Commonly ileum moves into the caecum via the ileocaecal valve - M>>F, Down's syndrome

Answer 532

- Failure or delay to pass meconium within 24h - Abdo pain, distension + later bile (green) stained vomit = obstruction - Chronic constipation + failure to thrive

Answer 533

- PR exam = narrow segment + withdrawal causes flow of liquid stool + flatus - AXR with barium contrast = dilated loops of bowel with fluid level - Suction rectal biopsy = DIAGNOSTIC showing absence of ganglionic cells

Answer 534

- Hirschsprung-associated enterocolitis (HAEC) = inflammation + obstruction of intestine, sometimes due to C. difficile

Answer 535

- 2-4w after birth = fever, abdo distension, diarrhoea (bloody) + signs of sepsis - Toxic megacolon + perforation = life-threatening - Urgent Abx, fluid resus + decompression of obstructed bowel

Answer 536

- Bowel irrigation as initial management so meconium can pass - Surgical resection of aganglionic section of bowel = anorectal pullthrough (anastomosing innervated bowel>anus)

Answer 537

- Hypertrophy of the pyloric (circular) muscle causing gastric outlet obstruction - Presents 2–7w, M>F 4:1, particularly first-borns

Answer 538

- Projectile vomiting (no bile) due to powerful peristalsis AFTER feeds - Hunger after vomiting until dehydration > loss of interest - Failure to thrive - Palpable abdominal 'olive' mass in RUQ (hypertrophic muscle of pylorus)

Answer 539

- Test feed = visible gastric peristalsis - Hyponatraemic, hypokalaemic + hypochloraemic metabolic acidosis - USS = Dx, visualises thickened pylorus

Answer 540

- Correct fluid + electrolyte disturbances (0.45% saline, 5% dextrose + K+ supplements) before any surgery - Laparoscopic Ramstedt's pyloromyotomy

Answer 541

- Incision into smooth muscle of pylorus to widen canal | - Can feed 6h after

Answer 542

- Surgical = appendicitis, intussusception, Meckel's, malrotation, mesenteric adenitis - Boys = exclude testicular torsion + strangulated inguinal hernia - Medical = UTI, DKA, HSP, lower lobe pneumonia

Answer 543

- Recurrent pain sufficient to interrupt normal activities + lasting ≥3m - Often functional abnormalities of gut motility or enteral neurones = IBS, abdominal migraine or functional dyspepsia

Answer 544

- No structural cause in >90% - GI = IBS, abdominal migraine, coeliac - Gynae = ovarian cysts, PID, Mittelschmerz (ovulation pain) - Hepatobiliary = hepatitis, gallstones, UTI - Psychosocial = bullying, abuse, stress

Answer 545

- Epigastric pain at night, haematemesis = duodenal ulcer - Vomiting = pancreatitis - Jaundice = liver disease - Dysuria, secondary enuresis = UTI - Bilious vomiting + abdo distension = malrotation

Answer 546

- Guided by clinical features, urine MC&S essential - Endoscopy if dyspeptic - Colonoscopy if any PR bleeding

Answer 547

- Encourage parents to not ask about or focus on pain - Distract child with other interests + activities - Advice about sleep, regular balanced meals, exercise etc

Answer 548

- Commonest cause of surgical abdominal pain, very uncommon in <3y

Answer 549

- Obstruction of the appendix lumen (faecolith) causing inflammation + infection of the appendix wall - This makes it liable to perforation which can be rapid as omentum less developed so fails to surround the appendix + then peritonitis

Answer 550

- Classic central, colicky abdominal pain which localises to RIF from localised peritoneal inflammation - Anorexia - Minimal vomiting

Answer 551

- Low grade fever - Abdominal pain aggravated by movement - RIF tenderness + guarding (McBurney's point) - Rebound + percussion tenderness (precipitated by cough, jump) - Rovsing's sign = LIF pressure causes RIF pain

Answer 552

- FBC (raised WCC), CRP raised - Faecoliths can be see in AXR - USS to exclude gynae pathology - Gold standard = CT abdomen esp if uncertain - -ve tests but clinical suspicion = diagnostic laparoscopy

Answer 553

- ?Perforation = fluid resus + prophylactic IV Abx before surgery - Appendicectomy (often diagnostic laparoscopy, may be delayed if stable)

Answer 554

- Bowel telescopes (invaginates) into itself (proximal bowel into distal segment) - Commonly ileocaecal valve (ileum>caecum) - Most common cause of intestinal obstruction in infants 2m–2y, M>F

Answer 555

- Severe paroxysmal abdominal colic pain + food refusal - Child becomes pale + draws up legs during episodes of pain (colic), screaming - Vomiting (bilious), abdominal distension + shock

Answer 556

- RUQ 'sausaged-shaped' mass | - Redcurrant jelly stool as blood + mucus in stool

Answer 557

- USS #1 choice, shows 'target sign' | - AXR shows distended small bowel + no gas distally in large bowel

Answer 558

- Aggressive IV fluid resus - Reduction via air enema (air insufflation) by radiologist (risk of perf) - Caution as risk of gangrenous bowel + perf so laparotomy if air enema fails

Answer 559

- Ileal remnant of the vitello-intestinal duct which contains ectopic gastric mucosa or pancreatic tissue

Answer 560

Rule of 2s – - 2% population - 2 feet from ileocaecal valve - 2 inches - 2 types of tissue - 2y/o

Answer 561

- Severe, painless, dark red PR bleeding | - May present with intussusception, volvulus or diverticulitis (mimics appendicitis)

Answer 562

- Technetium scan will demonstrate increased uptake by ectopic gastric mucosa - Surgical resection, may need transfusion if severe haemorrhage

Answer 563

- During rotation of small bowel in foetal life, if mesentery not fixed at the duodenojejunal flexure or in the ileocaecal region, its base is shorter than normal - Predisposed to volvulus > obstruction > ischaemia

Answer 564

- Ladd bands may cross the duodenum | - Obstruction or obstruction with compromised blood supply

Answer 565

- First week of life bilious vomiting (below ampulla of vater) = malrotation until proven otherwise - Abdo pain - Tenderness (peritonitis, ischaemic bowel)

Answer 566

- Urgent upper GI contrast study is Dx, abdo USS | - Urgent surgical correction = Ladd's procedure rotates bowel anti-clockwise

Answer 567

- Abdo pain which resolves in 24–48h - Similar Sx to appendicitis but pain less severe + RIF tenderness variable - Often accompanied with viral URTI + cervical lymphadenopathy

Answer 568

- Conservative | - Laparoscopy if abdo Sx persist = Dx mesenteric adenitis if large mesenteric nodes + normal appendix

Answer 569

- Pain >1h, midline, paroxysmal + associated with facial pallor + vomiting - Can be associated with headache, photophobia + aura

Answer 570

- Sumatriptan + paracetamol ± NSAID (ibuprofen) - Pizotifen (serotonin receptor antagonist) or propranolol - Withdraw pizotifen slowly as can cause depression, anxiety, poor sleep + tremor

Answer 571

- Associated with altered gastrointestinal motility + an abnormal sensation of intra-abdominal events - Can be exacerbated by psychosocial factors like stress + anxiety

Answer 572

- Abdo pain often worse before or relieved by defecation - Intermittent explosive, loose or mucous stools + constipations - Bloating - Feeling of incomplete defecation

Answer 573

- By exclusion (FBC, CRP/ESR, coeliac screen, faecal calprotectin + MC&S) - Dietician involvement with possibility of excluding foods if they aggravate Sx

Answer 574

- Constipation = good water + fibre intake, physical activity, PRN laxatives - Diarrhoea = avoid alcohol + caffeine, try bulking agent ± anti-motility such as loperamide after each loose stool - Anti-spasmodic for pain like mebeverine or hyoscine butylbromide (Buscopan)

Answer 575

- Epigastric pain, early satiety, bloating + postprandial vomiting

Answer 576

- C-13 Urea breath test for H. pylori + upper GI endoscopy if Sx recur, if normal = Dx - Hypoallergenic diet - Eradicate H. pylori if suspected with triple therapy > omeprazole, amoxicillin + metronidazole or clarithromycin

Answer 577

i) Non-forceful return of small amounts of milk usually accompanied by wind (normal) ii) Non-forceful return of milk, larger + more frequent losses than in posseting + usually indicates reflux iii) forceful ejection of gastric contents

Answer 578

- GOR (v common) - Infection (gastroenteritis, pertussis, UTI, meningitis) - Dietary protein intolerances + feeding problems - Intestinal obstruction (pyloric stenosis, malrotation) - Inborn errors of metabolism, CAH

Answer 579

- Gastroenteritis + infections - Appendicitis - Intestinal obstruction (intussusception, volvulus) - Raised ICP - Torsion

Answer 580

- Gastroenteritis, infection - Peptic ulceration + H. pylori - Appendicitis, raised ICP, DKA, alcohol/drugs - Bulimia/anorexia nervosa - Pregnancy - Torsion

Answer 581

i) Obstruction (malrotation, atresia, meconium ileus) ii) Oesophagitis, peptic ulceration, oral/nasal bleed iii) Obstruction incl. strangulated inguinal hernia iv) Intussusception, gastroenteritis v) Severe gastroenteritis, systemic infection, DKA vi) GOR, coeliac, IBD, CMP allergy

Answer 582

- Infrequent passage of dry, hardened faeces often accompanied by straining or pain, by definition <3 complete stools per week - Involuntary soiling

Answer 583

- Hard or like rabbit droppings (type 1) - May have PR bleed if hard - Waxing + waning of pain with stool passage - Retentive posturing

Answer 584

- Usually idiopathic - Meds (opiates) - LDs - Hypothyroidism - Hypercalcaemia - Poor diet (dehydration, low fibre) - Occasionally forceful potty training

Answer 585

- Delayed passage of meconium = Hirschsprung's, CF - Failure to thrive = hypothyroid, coeliac - Abnormal lower limb neurology = lumbosacral pathology - Perianal bruising or multiple fissures = ?abuse

Answer 586

- Abdo exam may reveal palpable faecal mass | - PR examination only by an expert

Answer 587

- Acquired megacolon - Anal fissures - Soiling + behavioural problems - Child may avoid defecating due to pain > constipation + overflow diarrhoea

Answer 588

- Prolonged faecal status = resorption of fluids = increase in size + consistency - This leads to rectal stretching + reduced sensation > overflow + soiling (very smelly)

Answer 589

- Balanced diet with adequate fibre + sufficient fluids - Toilet train to sit on toilet after mealtimes - Star charts reward - Use these in combination with medical management

Answer 590

- 1st = macrogol (osmotic) laxative like polyethylene glycol + electrolytes (Movicol) - 2nd = stimulant laxative if no effect like Senna, bisocodyl ± osmotic laxative (lactulose) or stool softener (docusate) if hard stools - 3rd = consider enema ± sedation or specialist manual evacuation - Continue for several weeks after regular bowel habit then gradual dose reduction

Answer 591

- Involuntary passage of gastric contents into the oesophagus due to inappropriate relaxation of the lower oesophageal sphincter, often due to functional immaturity - Preterm delivery, neuro disorders (cerebral palsy)

Answer 592

- Recurrent regurgitation or vomiting but normal weight gain | - Problematic = chronic cough, hoarse cry, distress after feeding + reluctance to feed, failure to thrive

Answer 593

- Usually clinical but if atypical Hx, complications or failed Tx... – 24h oesophageal pH monitoring – Endoscopy + biopsy to identify oesophagitis – Contrast studies like barium meal

Answer 594

- Failure to thrive from severe vomiting - Oesophagitis = haematemesis, discomfort on feeding or heartburn, Fe anaemia - Aspiration > recurrent pneumonia, cough/wheeze - Sandifer syndrome = dystonic neck posturing (torticollis)

Answer 595

- Small + frequent meals, do not over feed - Regular burping to help milk settle - Keep baby upright after feeds - Trial thickening agents like Nestargel or add Gaviscon to feeds (not at same time)

Answer 596

- Acid suppression = H2 receptor antagonists (ranitidine) or PPI (omeprazole) - Surgical Mx (fundoplication) if complications, unresponsive to intensive medical treatment or oesophageal strictures

Answer 597

- Inflammation of the stomach and intestines with diarrhoea, nausea + vomiting - Viral rotavirus in paeds, norovirus in adults - Poor hygiene, immunocompromised, poorly cooked foods

Answer 598

- Developing = causes thousands of deaths, mostly bacteria from contaminated food - Developed = mostly viral, infants susceptible to dehydration

Answer 599

- Diarrhoea = change in consistency of stools to loose/liquid ± increase in frequency of passing stools (acute if <2w, often lasts 5–7d) - Vomiting (1–3d), abdominal cramps - Bloody diarrhoea associated with bacterial infection

Answer 600

- Campylobacter jejuni - E. coli - Shigella - Salmonella - Bacillus cereus

Answer 601

- #1 bacterial cause worldwide, gram negative curved/spiral bacteria - Raw/poorly cooked poultry, untreated water, unpasteurised milk - Abdominal cramps, bloody diarrhoea, vomiting + fever

Answer 602

- Abx considered after isolating organism where pts have severe symptoms or other risk factors - Azithromycin or ciprofloxacin

Answer 603

- E. coli 0157 as produces the Shiga toxin - Contact with infected faeces, unwashed salads or contaminated water - Abdominal cramps, bloody diarrhoea + vomiting

Answer 604

- Destroys blood cells + can lead to haemolytic uraemic syndrome - Abx increase this risk so avoid

Answer 605

- Faeces contaminating drinking water, swimming pools + food - Bloody diarrhoea, abdominal cramps + fever - Shiga toxin > HUS - Severe = azithromycin or ciprofloxacin

Answer 606

- Raw eggs, poultry | - Watery diarrhoea ± mucus or blood

Answer 607

- Gram +ve rod spread through inadequately cooked food, grows well on food, classically undercooked or reheated rice - Produces toxin (cereulide) > abdominal cramping + vomiting soon after ingestion, reaches intestines + different toxin causes watery diarrhoea, resolves within 24h

Answer 608

- Assess for dehydration as main concern - FBC, CRP/ESR, U+Es - ?Stool MC&S (electron microscopy if viral) if blood in stool, immunocompromised, travel Hx, not improved in a week

Answer 609

- Sunken eyes - Reduced skin turgor - Lethargic - Tachycardia, tachypnoea - Dry mucous membranes - Appears unwell - Oliguria

Answer 610

- Pale/mottled - Hypotension - Prolonged CRT - Cold - Decreased GCS - Sunken fontanelle - Weak pulses - Anuria

Answer 611

- Isonatraemic + hyponatraemic dehydration - Hypernatraemic dehydration - Post-infective lactose intolerance (remove lactose + slowly reintroduce) - Guillain-Barré - Dehydration #1 cause of death

Answer 612

- Water loss + Na+ loss are proportional - Child with diarrhoea drinks large quantities of water, Na+ loss greater than water so fall in plasma Na+ – Fluid shifts from ECF>ICF + can result in convulsions

Answer 613

- Water loss exceeds Na+ loss + fluid shifts from ICF>ECF (rare) - Jittery movements, increased muscle tone, hyperreflexia, convulsions, drowsiness/coma - Slow rehydration over 48h

Answer 614

- Isolation if in hospital with barrier nursing as spreads easily - School isolation until Sx settled for 48h - Continue feeds (not solids) - Encourage PO fluids - Discourage fruit juices + carbonated drinks - Mx at home if can keep fluid down

Answer 615

- 50ml/kg low osmolarity oral rehydration solution (Dioralyte) in addition to maintenance fluid, may need NG tube if unable to drink or vomiting - Rapid IVI (0.9% NaCl 20ml/kg), repeat if necessary, Abx if septicaemia

Answer 616

- Chronic non-specific diarrhoea - Commonest cause of persistent loose stools in pre-school children - Likely maturational delay in intestinal motility

Answer 617

- Stools vary in consistency (well-formed>explosive + loose) | - Presence of undigested vegetables common = 'peas + carrots diarrhoea'

Answer 618

- Most outgrow by age 5 but may be delay in reaching faecal continence - Ensure adequate fat to slow gut transit + fibre, avoid fresh fruit juice

Answer 619

- Enterobius vermicularis - V common, perianal itching (esp. at night), girls may have vulval Sx - Sellotape perianal area + send to lab to visualise eggs - Anti-helminthic (mebendazole if >6m stat) + hygiene measures for WHOLE family

Answer 620

i) 8.5–12.5 ii) Thelarche (breast development) iii) Pubarche (growth of pubic hair) + rapid height spurt occur rapidly after thelarche, menarche occurs roughly 2.5y after start of puberty (signals growth coming to an end)

Answer 621

i) 10–14 ii) Testicular enlargement >4ml (Prader orchidometer) iii) Pubarche follows testicular enlargement, height spurt about 18m after puberty but greater magnitude than in females

Answer 622

- Adrenarche = maturation of adrenal gland leading to androgen production causing body odour + mild acne - Development of acne, axillary hair, body odour + mood changes

Answer 623

- Tanner staging - B (breasts) - PH (pubic hair) - G (male genitals)

Answer 624

i) BI = pre-pubertal, BII = breast bud, BIII = juvenile smooth contour, BIV = areola + papilla project above breast, BV = adult ii) PHI = none, PHII = sparse, PHIII = dark, coarser, curlier, PHIV = filling out, PHV = adult iii) GI = pre-adolescent, GII = lengthens, GIII = growth in length + circumference, GIV = glans penis develops, GV = adult

Answer 625

- Gonadotropin-dependent (central/true) = premature activation of hypothalamic-pituitary-gonadal axis - Gonadotropin-independent (pseudo/false) = excess sex steroids

Answer 626

i) LH++, FSH+ > oestrogen from ovary ++ or testosterone from testis ++ & adrenal + – Familial, hypothyroidism, CNS (neurofibroma, tuberous sclerosis) ii) Low LH + FSH as gonadal or extra-gonadal source leads to increased testosterone or oestrogen – Adrenal (tumours, CAH) – Granulosa cell tumour (ovary) – Leydig cell tumour (testicular)

Answer 627

- Development of secondary sexual characteristics (thelarche) <8y - More common in girls, usually idiopathic or familial, occasionally late presenting CAH

Answer 628

- Full Hx, ages parents went into puberty, USS of uterus + ovaries - If ok = reassure - GnRH analogues stop puberty progressing further by suppressing pulsatile GnRH secretion until she is ready

Answer 629

- Development of secondary sexual characteristics <9y - Less common, more worrying – Pituitary adenoma (bilateral testicular enlargement suggests gonadotropin release) – CAH or adrenal tumour (small testes) – Gonadal tumour (unilateral testicular enlargement)

Answer 630

- Full Hx including ages parents went into puberty - MRI head for ?tumour - Treat underlying cause - McCune Albright syndrome (café-au-lait, short stature)

Answer 631

- Breast enlargement (may be asymmetrical) rarely beyond stage 3 but absence of axillary/pubic hair or growth spurt (differentiating from precocious puberty) - Females 6m–2y, non-progressive + self-limiting

Answer 632

- Pubic hair development <8y (F), <9y (M) but no other signs of sexual development

Answer 633

- Accentuation of normal maturation of androgen production by adrenal gland (adrenarche), can be late-onset CAH or adrenal tumour - Urinary steroid profile to help differentiate

Answer 634

- More common in Asian + Afro-Caribbean, increased risk of PCOS later in life - USS of ovaries + uterus with bone age to exclude central precocious puberty

Answer 635

- Autosomal recessive condition with deficiency of 21-hydroxylase enzyme - Small minority = 11-beta-hydroxylase - Consanguineous parents

Answer 636

- Glucocorticoids (cortisol) deal with stress > raise glucose, reduce inflammation, suppresses immune system - Mineralocorticoids (aldosterone) act on kidneys to control balance of salt (mineral) + Water in blood > increases Na+ reabsorption + K+ excretion

Answer 637

- 21-hydroxylase responsible for converting progesterone into cortisol + aldosterone - Progesterone also used to create testosterone, but not with 21-hydroxylase - Excess progesterone (as not converted to aldosterone or cortisol) gets converted into testosterone instead (high)

Answer 638

- Tall for age, facial hair, absent periods, deep voice + precocious puberty - Severe = virilised genitalia (ambiguous), labial fusion + enlarged clitoris

Answer 639

i) Tall for age, large penis + muscles, small testicles, deep voice + precocious puberty ii) Skin hyperpigmentation as melanocyte stimulating hormone by-product of ACTH production (as low cortisol) > increased melanin

Answer 640

- Male salt-losers present in salt-losing crisis shortly after birth – Vomiting, weight loss, floppiness + circulatory collapse – Hyponatraemic, hyperkalaemic, metabolic acidosis, hypoglycaemic – IV 0.9% NaCl + dextrose, IV hydrocortisone

Answer 641

- Monitor growth, skeletal maturity, plasma androgens | - High metabolic precursor levels of 17alpha-hydroxyprogesterone (used to monitor disease too)

Answer 642

- Corrective surgery to external genitalia within 1st year | - Definitive surgical reconstruction usually delayed until puberty

Answer 643

- Lifelong glucocorticoids (hydrocortisone) to suppress ACTH > normal growth - Lifelong mineralocorticoids (fludrocortisone) if there's salt loss, infants may need NaCl - Additional hydrocortisone to cover illness/surgery - Antenatal dexamethasone controversial treatment, risks>benefits currently

Answer 644

- Foetal gonad bipotential until 6w - Sex-determining region on Y chromosome (SRY) gene present - Production of anti-mullerian hormone inhibits Mullerian (paramesonephric) duct from persisting which > uterus + fallopian tubes

Answer 645

- Leydig cells produce testosterone causing Wolffian duct differentiation > vas, epididymis, seminal vesicles - Later, dihydrotestosterone leads to virilised external genitalia

Answer 646

- No SRY gene present so no AMH | - Mullerian duct persists which develops into ovaries + female genitalia

Answer 647

- CAH (#1) - Congenital hypopituitarism (Prader-Willi) - Ovotesticular disorder of sex development (true hermaphroditism) leading to both testicular + ovarian tissues as XX + XY containing cells present

Answer 648

- Do not guess sex - Karyotyping, adrenal + sex hormone levels measured - USS of internal structures + gonads - Surgical reconstruction may be delayed so individual can make choice

Answer 649

- Hypogonadotropic hypogonadism = deficiency of LH + FSH leading to deficiency of sex hormones - Hypergonadotropic hypogonadism = gonads fail to respond to stimulation from gonadotrophins (LH + FSH), no -ve feedback from sex hormones so increased LH + FSH

Answer 650

- Constitutional delay in growth + puberty (FHx) - Chronic diseases (IBD, CF, coeliac) - Excess stress (anorexia, intense exercise, low weight) - Hypothalamo-pituitary disorders (panhypopituitarism, Kallman's + anosmia, GH deficiency)

Answer 651

- Chromosomal abnormalities (Turner's XO, Klinefelter's 47XXY) - Acquired gonadal damage (post-surgery, chemo/radio, torsion) - Congenital absence of the testes or ovaries

Answer 652

i) Turner's, Prader-Willi + Noonan's | ii) PCOS, androgen insensitivity, Kallmann's + Klinefelter's

Answer 653

i) Absence of pubertal development by 14y | ii) Absence of pubertal development by 15y (more common in males)

Answer 654

- FBC + ferritin (anaemia), U+E (CKD), coeliac antibodies - Hormonal testing - Genetic testing/karyotyping - XR wrist to assess bone age (low in constitutional delay) - Pelvic USS to assess ovaries + other pelvic organs - MRI head if ?pituitary pathology + assess olfactory bulbs (Kallmann)

Answer 655

- Early morning serum gonadotropins (FSH/LH) - TFTs - GH provocation testing (insulin, glucagon) - IGF-1 levels - Serum prolactin

Answer 656

- Constitutional = reassure, can Tx if severe distress - F = oestradiol - Young M = PO oxandrolone (weak androgenic steroid will induce some catch-up growth but not 2ary sexual characteristics) - Older M = low dose IM testosterone for growth + sexual characteristics

Answer 657

- Exclusive breastfeeding for first 6m, mixed 2y + beyond - 150ml/kg/day split between feeds every 2-3h initially, slowly increase - Normal for breastfed babies to lose up to 10% (formula 5%) of bodyweight by day 5 but should return to birth weight by day 10

Answer 658

- Free - Helps bonding - Lactational amenorrhoea - Reduces risk of NEC in preterm infants + SIDS - Antibodies to protect neonate against infection - Reduced maternal risk of breast + ovarian cancer

Answer 659

- Breast milk jaundice - Unknown intake so ?eating adequately - Discomfort for mother - Transmission of drugs or infections to baby - Insufficient vitamin D + K (reason for vitamin K IM injection at birth)

Answer 660

- Gradual transition from milk to normal food | - 6m with pureed foods that are easy to palate, swallow + digest > normal, healthy diet

Answer 661

- Parental phenotype + genotype - Nutrition - Pregnancy factors - Psychosocial deprivation - Endocrine function

Answer 662

- Weight = naked infant or child only in underclothing - Height = >2y standing height, <2y horizontal - Head circumference = occipitofrontal circumference is a measure of head + accurate representation of brain size + development

Answer 663

- Microcephaly = ?brain not formed properly, ?LDs - Macrocephaly = ?hydrocephalus - Note = small babies likely to have small heads, compare ALL values

Answer 664

- Faulty technique (inexperienced staff), faulty equipment (wrongly calibrated), uncooperative child - Boys = [(Dad + mum height in cm) ÷ 2] + 7 - Girls = [(Dad + mum height in cm) ÷ 2] – 7

Answer 665

- Assess if a child's overall height is abnormal (<2nd or >98th centile) – GP review if <2nd, Paeds review if <0.4th - Assess if a child is failing to follow their growth potential (drop centile line) – More concerning than consistently 9th centile - Assess if a child is losing or gaining weight quickly – ?Pathology

Answer 666

- First 2y = growth velocity fastest in utero + infancy, driven by nutritional factors - 2y-puberty = steady slow growth (genes, thyroid + growth hormones, health) - Puberty = rapid growth spurt driven by sex hormones - When the epiphyses fuse

Answer 667

- Failure to gain adequate weight or achieve adequate growth at a normal rate during infancy or childhood - Descriptive term (aka faltering growth)

Answer 668

- Inadequate calorie intake (most common) - Malabsorption - Inadequate retention - Increased calorie requirements

Answer 669

- Impaired suck/swallow (cleft palate, neuro-motor dysfunction, CP) - Inadequate availability of food (socioeconomic deprivation) - Neglect - Maternal depression

Answer 670

- Cystic fibrosis - Cow's milk protein intolerance - Coeliac disease - IBD - Short gut syndrome

Answer 671

i) Vomiting (GOR, pyloric stenosis), gastroenteritis ii) Chronic illness (CHD, CKD, CF, HIV), hyperthyroidism, cancer iii) T1DM, inborn errors of metabolism

Answer 672

- Severe protein malnutrition - Weight for height >3 standard deviations below the median - Wasted, wrinkly appearance due to severe protein-energy malnutrition

Answer 673

- Severe protein malnutrition - Generalised oedema - Sparse + depigmented hair - Skin rash - Angular stomatitis - Distended abdomen - Hepatomegaly + diarrhoea

Answer 674

- Mild = fall across 2 centile lines on growth chart | - Severe = fall across 3 centile lines on growth chart

Answer 675

- ≥1 centile spaces if birth weight was <9th centile - ≥2 centile spaces if birth weight was 9th–91st centile - ≥3 centile spaces if birth weight was >91st centile - Current weight is below 2nd centile for age, regardless of birth weight

Answer 676

- Serial measurements on growth charts for Dx - Full Hx + examination - Measure height + weight > BMI (if >2y) - Calculate mid-parental height - Food diary - Urine dipstick for UTI + coeliac screen (anti-TTG) for 1st line investigations

Answer 677

- Pregnancy, birth, developmental + social Hx - Feeding or eating Hx (breast/bottle, times, volume, frequency) - Observe feeding - Mum's physical + mental health - Parent-child interactions

Answer 678

- <2nd centile = ?undernutrition or small build, <0.4th centile = likely undernutrition > assessment + intervention - Specific underlying cause if suspected (CRP/ESR, U+Es, LFTs, TFTs)

Answer 679

- Health visitor (parental support if inorganic) - Dietician may suggest nutritional supplement drinks or add energy dense foods, encourage regular structured mealtimes + Snacks - Community paediatrician - SALT if impaired suck or swallow

Answer 680

- Severe failure to thrive + require active refeeding | - Can use this time to observe + improve method of feeding if needed

Answer 681

- Enteral tube feeding - Must have clear goals + defined end point - Only used if serious concerns about weight gain + other interventions tried

Answer 682

- Height below 2nd centile (>2 standard deviations below the mean for the age, sex)

Answer 683

- Familial (short parents) - Constitutional delay of growth + puberty - IUGR + extreme prematurity - Endocrine (GH deficiency, panhypopituitarism, steroid excess, hypothyroidism - Syndromes (Down's, Turner's Noonan's) - Chronic illness (coeliac, IBD, CHD) - Psychosocial deprivation (malnutrition, neglect) - Achondroplasia

Answer 684

i) Follows growth centile within predicted range for parental height ii) Legs long in comparison to back, short stature accentuated by delayed puberty, delayed bone age iii) Short from birth

Answer 685

i) Falling off height centiles, weight > height (short + overweight), marked delay in bone age ii) Dysmorphic features, ?Turner's in all short girls iii) Falling off height centiles, weight < height, delayed bone age iv) Disproportionate short stature (skeletal dysplasia = legs > back, storage disorders = back > legs)

Answer 686

- Serial measurements plotted on growth chart - Calculate mid-parental height - Bone age scan (Wrist XR) to assess size + shape of bones + growth plates - FBC, CRP/ESR, U+Es, TFTs, coeliac screen - Pituitary function tests (GH provocation, IGF-1 levels) - Dexamethasone suppression testing - Karyotyping

Answer 687

- Height above 98th centile (>2 standard deviations above the mean for the age, sex)

Answer 688

- Familial (#1) - Obesity - Secondary (rare): – Hyperthyroidism – True gigantism (excess GH) – Excess adrenal androgen steroids (CAH) - Syndromes (Marfan, Klinefelter = long-legged tall stature)

Answer 689

- 'Fuels' early growth but puberty is often earlier than average, does not increase final height - Tailored clinical intervention if BMI ≥91st centile (diet, exercise, behavioural) - Assessment for comorbidity if ≥98th centile

Answer 690

- Both CAH + precocious puberty lead to early epiphyseal fusion so eventual height is reduced after an early excessive growth rate

Answer 691

- Hip, then leg > knee > thigh > foot (least likely) | - Intra-abdominal pathology like hernia, testicular torsion

Answer 692

- Trauma like # (accidental or NAI) - Infections (septic arthritis, osteomyelitis) - DDH (chronic) - Malignancy (Ewing's, osteogenic sarcoma) - Neuromuscular disease (CP, Duchenne's) * ANY CHILD <3Y WITH LIMP NEEDS URGENT ASSESSMENT*

Answer 693

- Trauma, infection, malignancy - Transient synovitis (acute) - Perthe's disease (P for primary school, chronic) - Juvenile idiopathic arthritis (chronic)

Answer 694

- Trauma, infection, malignancy - Slipped upper femoral epiphysis (S for secondary school, acute/chronic) - JIA - Reactive arthritis

Answer 695

- Full Hx + exam (top>toe) - General obs (HR, BP, temp) - FBC (WCC), CRP/ESR, blood cultures if septic - XR both AP + lateral for joint (+ joints above/below) - USS joint to look for thickening of capsule or effusion

Answer 696

- Abnormal relationship of femoral head to the acetabulum leading to aberrant development of hip causing instability - Spectrum of dysplasia (underdevelopment), subluxation (partial dislocation) or frank dislocation of the hip

Answer 697

- First degree FHx, breech at ≥36w or breech delivery ≥28w, multiple pregnancy – USS hip by 6w even if normal NIPE exam - Other = F>M 6:1, oligohydramnios

Answer 698

- Painless limp - Limited abduction (reduced ROM) - Leg length discrepancy - May have waddling or abnormal gait but otherwise well

Answer 699

NIPE at 72h + 6–8w - Leg length discrepancy - Restricted hip abduction of affected side - Barlow + ortolani tests - Clunking of hips on tests

Answer 700

i) Galeazzi/Allis sign = difference in knee length when hips flexed + feet flat on bed ii) Posterior hip dislocation (adduct hips + press down on knees) iii) Relocate a dislocated femoral head (abduct + push thigh anteriorly)

Answer 701

- USS by 2w of age | - XR may be useful in older infants >3m

Answer 702

- If <6m = Pavlik harness to hold femoral head in position (flexed + abducted) to allow the hip socket (acetabulum) to develop normal shape (remove after 6-8w) - Surgical reduction if harness fails or Dx >6m = hip spica cast to immobilise hip for prolonged period after surgery (risk of avascular necrosis + re-dislocation)

Answer 703

- Serious infection of the joint space as it can lead to bone destruction - Most common <2y, usually from haematogenous + soft tissue swelling

Answer 704

- Staphylococcus aureus i) GBS, S. aureus, coliforms ii) S. aureus, pneumococcus, haemophilus iii) S. aureus, gonococcus (adolescents)

Answer 705

- Usually single joint (knee or hip) + acute onset - Hot, red, swollen + painful joint (including at rest) - Refusal to weight bear - Stiffness + reduced ROM with pain if moved (hip may be held flexed) - Systemic = fever, lethargy, sepsis

Answer 706

- FBC, blood cultures, CRP + ESR, USS guided joint aspiration for MC&S - Kocher's modified criteria /5, ≥3 is likely –Temp>38.5 – Raised CRP/ESR/WCC – Non-weight bearing

Answer 707

- IV empirical Abx (flucloxacillin) until sensitivities back - Arthroscopic lavage or surgical drainage if resolution does not occur rapidly or deep-seated joint (hip) - Immobilise joint initially but then mobilise to prevent deformity - Rest + analgesia

Answer 708

- Infection in the bone + bone marrow, often in the metaphysis of long bones - Acute = rapid presentation with acutely unwell child - Chronic = deep seated, slow growing infection + Sx

Answer 709

- S. Aureus #1 or H. influenzae (directly via bone or haematogenous spreading) - M>F, <10y - Open #, orthopaedic surgery, sickle cell anaemia (Salmonella predominates), immunocompromised (HIV),

Answer 710

- Acutely unwell child - Refusing to weight bear - Severe pain, swelling + tenderness - May have high fever (low grade if chronic)

Answer 711

- FBC (Raised WCC), raised ESR/CRP, blood cultures, bone marrow aspiration MC&S - XR can be normal - MRI is best imaging to establish Dx

Answer 712

- IV empirical Abx (flucloxacillin or clindamycin if allergy) until sensitivities back - Amoxicillin, cefotaxime or ceftriaxone if <4y + suspect H. influenzae - ?Surgical drainage or debridement of infected bone

Answer 713

- Disruption of blood flow to femoral head causing avascular necrosis of the bone - Affects the epiphysis of femur, which is bone distal to growth plate (physis) - Over time, revascularisation or neovascularisation + healing of the femoral head with remodelling of bone

Answer 714

- Social deprivation - LBW - Passive smoking

Answer 715

- 4-8y, mostly male, limp (no Hx of trauma) - Pain (often unilateral) in hip or groin (?knee referral) with restricted hip movements (internal + external rotation) - +ve Trendelenburg test (abductor dysfunction) = 'sound side sags'

Answer 716

- Blood tests all normal - XR of both hips (with frog views) is initial investigation + assesses healing – Flattening of femoral head - Technetium bone scan or MRI may be needed to confirm Dx if normal XR

Answer 717

- Premature fusion of the growth plates | - Soft + deformed femoral head can lead to early hip OA

Answer 718

- Keep femoral head within acetabulum (cast, braces) | - Physio to retain ROM in muscles + joints without excess stress on the bone

Answer 719

i) Conservative + observe, bed rest, traction, crutches, analgesia (good prognosis) ii) Surgery to improve alignment + function of the femoral head + hip

Answer 720

- Autoimmune inflammation in joints > joint pain, swelling + stiffness

Answer 721

- Onset before 16y with no underlying cause - Joint swelling/stiffness - >6w in duration to exclude other causes (i.e. reactive)

Answer 722

- Joint pain, swelling + stiffness (particularly morning) = hallmarks - Limping/functional disability - Decreased ROM - Warmth + colour change

Answer 723

- Systemic JIA (Still's disease) - Polyarticular JIA - Oligoarticular JIA - Enthesitis-related arthritis

Answer 724

- Subtle salmon-pink rash - High swinging fevers - Lymphadenopathy, weight loss, muscle pain, splenomegaly - Pleuritis, pericarditis + uveitis

Answer 725

- Antinuclear antibodies (ANA) + rheumatoid factor = NEGATIVE - Raised inflammatory markers = CRP/ESR, platelets + serum ferritin

Answer 726

- Macrophage activation syndrome = severe activation of immune system with massive inflammatory response - Acutely unwell with DIC, febrile, anaemia, thrombocytopenia, bleeding, non-blanching rash, low ESR - Life-threatening = supportive + steroids

Answer 727

- ≥5 joints affected, equivalent of RA in adults - Symmetrical, affects small joints (of hand + feet) as well as large joints (hips + knees) - Mild systemic Sx = mild fever, anaemia + reduced growth - If rheumatoid factor +ve = seropositive (tend to be older children)

Answer 728

- ≤4 joints affected, often just monoarthritis - Tends to affect the larger joints like knee or ankle - Mostly girls <6y

Answer 729

- Usually no systemic Sx, normal/mildly elevated inflammatory markers - Anterior uveitis = ophthalmologist referral - ANA +ve but RF -ve

Answer 730

- Paeds version of seronegative spondyloarthropathies (ankylosing spondylitis, psoriatic/reactive arthritis, IBD-related arthritis) - Enthesitis = inflammation at the point a tendon or muscle inserts to bone

Answer 731

- Sx of psoriasis (psoriatic plaques, nail pitting, dactylitis) or IBD - HLA-B27 gene - Prone to anterior uveitis = ophthalmology referral

Answer 732

- Arthritis that develops following an infection where the organism cannot be recovered from the joint - Post STI (chlamydia) in older children or Salmonella, Campylobacter

Answer 733

- Reiter's = can't see (conjunctivitis), pee (urethritis) or climb a tree (arthritis) - Sx (analgesia, NSAIDs, sometimes intra-articular steroids)

Answer 734

Same as RA (LESS) – - Loss of joint space - Erosions (causing joint deformity) - Soft tissue swelling - Soft bones (osteopenia)

Answer 735

- Chronic anterior uveitis > severe visual impairment - Flexion contractures of joints - Growth failure + constitutional problems like delayed puberty - Osteoporosis

Answer 736

- MDT approach = education, psychologist, physio, pain team, rheumatology

Answer 737

- NSAIDs for Sx relief during flares - Intra-articular steroids for oligoarthritis - Avoid systemic steroids if possible (osteoporosis, growth suppression) – IV methylprednisolone can be used if severe arthritis - DMARDs like methotrexate, rarely sulfasalazine for polyarthritis - Biologics if poor control like tocilizumab, adalimumab, etanercept

Answer 738

- 'Irritable hip' caused by transient inflammation of the joint synovial membrane - Recent viral URTI, small % will develop Perthe's

Answer 739

- Limp + refusal to weight bear, 2–10y - Groin or hip pain (may be referred to knee) - Mild low-grade fever but otherwise systemically well - Limited internal rotation + pain on movement but comfortable at rest

Answer 740

- #1 = exclude septic arthritis so if suspect = cultures + joint aspiration - Normal WCC, slight increase in CRP - USS may show effusion but XR normal

Answer 741

- Self-limiting with only simple analgesia + rest = rapid Sx improvement - Manage at home with safety netting + review to ensure no fever + Sx resolving

Answer 742

- Displacement of femoral head epiphysis postero-inferiorly along the growth plate (through zone of hypertrophy)

Answer 743

- Boys, >10y, obese + undergoing growth spurt | - Metabolic endocrine abnormalities (hypothyroid)

Answer 744

- May be Hx of minor trauma that triggers onset - Hip, groin, thigh or knee pain (disproportionate to severity of trauma) - Painful limp + may have antalgic gait - Very restricted internal rotation (+ abduction)

Answer 745

- XR initial Ix of choice (AP + frog-leg views) - Bloods (incl. inflammatory markers) normal - ?Technetium bone scan + MRI scan

Answer 746

- Surgery = internal fixation (pinning femoral head into position for prevention)

Answer 747

- Inflammation at the tibial tuberosity where the patellar ligament inserts - 10–15y sporty males (football, basketball)

Answer 748

- Visible or palpable hard + tender lump/swelling at tibial tuberosity - Pain in anterior aspect of knee, often unilateral - Exacerbated by physical activity, kneeling + extension of knee

Answer 749

- Reduce pain + inflammation = NSAIDs, ice, reduce exercise) | - Stretching + physio once settled to strengthen joint + improve function

Answer 750

- Softening of the cartilage of the patellar, common in teenage girls - Anterior knee pain on walking up/downstairs + rising from prolonged sitting - Usually responds to physiotherapy

Answer 751

- Chronic anterior knee pain that worsens after running, tender below patellar on examination - More common in athletic teenage boys

Answer 752

i) Pain after exercise with intermittent swelling | ii) Medial knee pain due to lateral subluxation of the patellar, knee may give way

Answer 753

Diagnosis by exclusion – - Pain never present at start of day after waking but can awaken from sleep - Physical activities are not limited, no limp, settles with massage - Bilateral pain in lower limbs (shins/ankles) + not limited to joints - Can be worse after a day of vigorous activity + intermittent

Answer 754

- ≥1 vertebral crush # - ≥2 long bone fractures by age 10 (≥3 by age 19) - Bone mineral density less than 2.5 standard deviations below the mean - DEXA scan

Answer 755

- Inherited = osteogenesis imperfecta, haematological issues - Acquired: – Drug induced (Steroids) – Endocrinopathies (hypoparathyroidism) – Malabsorption – Immobilisation (disabilities) – Inflammatory disorders

Answer 756

- Autosomal dominant condition leading to brittle bones + prone to fractures - Defects in type 1 collagen protein which is essential for the structure + function of bone, as well as skin, tendons + other connective tissues

Answer 757

- Bone fragility = recurrent + inappropriate #, joint + bone pain - Bone deformity (bowed legs, bent bones, scoliosis) - Impaired mobility due to poor muscle mass - Poor growth > short stature - Hypermobility as ligamentous laxity

Answer 758

- Conductive hearing loss (otosclerosis) - Blue/grey tinted sclera due to scleral thinness - Valvular prolapse, aortic dissection > aortic incompetence - Hernias - 'Wormian bones' = skull feels like bubble wrap (wiggly black lines on skull XR)

Answer 759

- Clinical Dx with XR to diagnose fractures + bone deformities - DEXA scan to look at bone mineral density (osteoporosis) - 7 types under the sillence classification

Answer 760

i) Mildest form, common with blue sclera ii) Lethal form, chest too small to allow breathing, lots of rib # + lungs do not function iii) Normal sclera

Answer 761

- Physio + OT to maximise strength + function - Paeds for medical treatment + follow up - Orthopaedic surgeons to manage # - Pain team, specialist nurses for advice + support

Answer 762

- Vitamin D supplementation to prevent deficiency | - Bisphosphonates (IV pamidronate) to increase bone density + reduce #

Answer 763

- Skeletal dysplasia leading to disproportionate short stature (dwarfism) - Abnormal function of epiphyseal (growth) plates which restricts bone growth

Answer 764

- Autosomal dominant, abnormal fibroblast growth factor receptor 3 (FGFR-3) gene - Always heterozygous as homozygous is fatal

Answer 765

- Short stature from marked shortening of limbs + fingers - Large head with frontal bossing + depression of nasal bridge - 'Trident' hands + marked lumbar lordosis

Answer 766

- Foramen magnum stenosis > cervical cord compression + hydrocephalus - Recurrent otitis media (cranial abnormalities) - Obstructive sleep apnoea - Obesity

Answer 767

- No cure but MDT approach to maximise functioning = paeds, specialist nurses, PT/OT, geneticists - ?Leg lengthening (controversial)

Answer 768

- Defective bone mineralisation > "soft" + deformed bones (paeds osteomalacia) - Vitamin D deficiency (recommended paeds intake 400IU = 10mg)

Answer 769

- Darker skin (need more sunlight) - Lack of exposure to sun - Poor diet or malabsorption - CKD as kidneys metabolise vitamin D to active form

Answer 770

- Increases Ca2+ absorption at gut + reabsorption at kidneys + role in immunity - Sunlight, fortified cereals, eggs, oily fish

Answer 771

- Lack of Ca2+ + phosphate in blood which are required for bone construction > defective bone mineralisation - Low Ca2+ causes secondary hypoparathyroidism as parathyroid gland tries to raise Ca2+ level by secreting parathyroid hormone - This leads to increased resorption of Ca2+ from the bones, worsening the issue

Answer 772

- Bone pain, swelling + deformities - Muscle weakness + poor growth (gross motor delay) - Pathological or abnormal # - May have hypocalcaemic convulsions or carpopedal spasm

Answer 773

- Bowing of legs, knock knees - Harrison sulcus = indentation of softened lower ribcage at site of attachment of diaphragm - Rachitic rosary = ends of ribs expand at costochondral junctions causing lumps along chest - Craniotabes = soft skull with delayed closure of sutures + frontal bossing - Expansion of metaphyses (esp. wrist)

Answer 774

- Serum biochemistry - FBC + ferritin (Fe anaemia), inflammatory markers - Kidney, liver + TFTs, malabsorption screen (anti-TTG) - Autoimmune + rheumatoid tests - XR required to diagnose

Answer 775

- Low = calcium + phosphate - High = ALP + PTH - 25-hydroxyvitamin D levels deficient (<25nmol/L)

Answer 776

- Osteopenia (radiolucent bones) - Cupping - Fraying of metaphyses - Widened epiphyseal plate

Answer 777

Prevention #1 – - Breastfeeding women should take vitamin D supplement - Dietary advice to increase calcium + vitamin D - Children vitamin D deficient > ergocalciferol Vitamin D + calcium supplementation for children with rickets + specialist input

Answer 778

- Fixed abnormal ankle position - Talipes equinovarus = inverted + plantarflexed (clubfoot) - Talipes calcaneovalgus = everted + dorsiflexed

Answer 779

- Idiopathic or secondary to oligohydramnios - Ponseti method (manipulate to normal position then plaster casting) - At some point Achilles tenotomy to release tension - Night-time braces 'boots and bars' applied until 4y

Answer 780

- Intrauterine moulding | - Self corrects although foot exercises can be given

Answer 781

- Error in meiosis where pair of chromosomes fail to separate so one gamete has 2 chromosome copies and one has none - Fertilisation of the gamete with 2 chromosomes gives rise to a trisomy - Parental chromosomes do not need to be examined, related to maternal age - 47 chromosomes

Answer 782

- Extra copy of one chromosome is joined onto another chromosome - 46 chromosomes but 3 copies of one chromosomes material

Answer 783

- Parental chromosomes analysis is needed, one parent may be carrier - Translocation carriers have 45 chromosomes on karyotype (one is in wrong place)

Answer 784

- Autosomal dominant - Autosomal recessive - X-linked (recessive)

Answer 785

i) 50% ii) AD = structural protein defects iii) No skipped generations, inherited regardless of sex iv) Adult PCKD, familial hypercholesterolaemia, Marfan's, Huntington's disease, BRCA genes

Answer 786

- #1 = non-paternity - New mutation - Gonadal mosaicism

Answer 787

i) 25% from 2 carrier parents ii) AR = affects metabolic pathways iii) Two germline mutations (2 carrier parents) iv) 2 in 3 (66%) as you take away possibility of them having the disease v) CF, phenylketonuria, haemochromatosis

Answer 788

- Consanguineous parents, esp. if many generations of it - Can give appearance of AD pedigree for a recessive condition - Particularly in people with Asian origin

Answer 789

i) Males more than females ii) NO male-male transmission but affected males can produce a carrier female iii) Gonadal mosaicism may occur influenced by X inactivation (lyonisation) iv) Haemophilia A, Duchenne's + Becker's, colour blindness

Answer 790

- Multi-factorial/polygenic - Genomic imprinting + uniparental disomy - Mitochondrial inheritance - Gonadal mosaicism

Answer 791

- Combination between pre-disposing genes + lived environment - Spina bifida increased risk = folic acid deficiency + sibling affected

Answer 792

- Most genes both copies are expressed, some genes are only maternally or paternally expressed (imprinting) - Prader-Willi + Angelman's syndrome both caused by either cytogenic deletions of the same region of chromosome 15q or by uniparental disomy of chromosome 15

Answer 793

- Responsible for ATP production so if abnormal > poor production + hence myopathies - Exclusively maternally inherited from circular mitochondrial DNA in cytoplasm of ovum (sperm mitochondria in tail) - Myoclonic epilepsy, ragged red fibres (MERRF), mitochondrially inherited DM + deafness (DIDMOAD)

Answer 794

- Some cells have mutations in genes giving rise to a particular phenotype e.g. birthmarks - Gonadal mosaicism is when germ cells involved

Answer 795

- Father = mosaic sperm (some sperm with mutated gene, some sperm normal) - Mother = all eggs with normal gene - Offspring = fertilised egg > union of male DNA (sperm) with mutated gene + female DNA (egg) with normal gene - Every cell of embryo has one copy of mutated + one copy of normal

Answer 796

- DNA analysis via polymerase chain reaction to amplify the DNA + determine the sequence of the relevant gene - Karyotyping (look at # of chromosomes, their size + basic structure) - Molecular cytogenic analysis = fluorescent in situ hybridisation (FISH) to detect presence, # + chromosomal location of specific sequences

Answer 797

- Antenatal Dx (amniocentesis or CVS) - Confirm clinical Dx - Detect female carriers for X-linked disorders - Detect carriers of AR disorders - Pre-symptomatic diagnosis of AD disorders like Huntington's disease

Answer 798

- No, have to be old enough to give informed consent themselves

Answer 799

- Involved in making diagnoses - Explains Dx with family + discuss prognosis - Discuss options (genetic testing, screening, prenatal Dx) - Refer to appropriate specialists for Mx

Answer 800

- Pre-conception advice where FHx of disorder - Antenatal Dx - Paeds = developmental delay, dysmorphic features - Carrier testing in known FHx - Adult onset conditions advice about getting test

Answer 801

- Disorders that affect many body systems | - VACTERL + CHARGE

Answer 802

- Vertebral (scoliosis, hypoplasia) - Anorectal (imperforate anus) - Cardiac (anomalies like VSD, ASD, TOF) - Tracheoesophageal (fistula) - oEsophageal (atresia) - Renal (anomalies) - Limb (anomalies)

Answer 803

- Coloboma (pupil defect) - Heart defects - Atresia (choanal atresia, blockage of nasal passage) - Retardation of growth or development - Genital hypoplasia - Ear abnormalities

Answer 804

- Trisomy 21 (3x copies of chromosome 21) - About 60y - Increasing maternal age #1 (1 in 100 by 40y, increased nondisjunction), FHx or if mother has Down's (rare)

Answer 805

- Nondisjunction (95%) leaves cell with extra C21 so trisomy on fertilisation - Robertsonian translocation (4%) = long arm of C21 translocate to C14 often - Mosaicism (1%) = cells have mixed amounts of chromosomes

Answer 806

- Flat occiput (brachycephaly) + flat bridge of nose - Upward sloping palpebral fissures (eyes slant down + inwards) - Prominent epicanthic folds (skin overlying medial portion of eye + eyelid) - Short neck + stature - Small mouth, protruding tongue, small ears - Brushfield spots in iris (pigmented spots)

Answer 807

- Widely separated first + second toe (sandal gap) - Hypotonia - Single transverse palmar (simian) crease

Answer 808

- LDs + delayed motor milestones - Complete AVSD - Atlantoaxial instability = risk of neck dislocation during sports - Hypothyroidism, duodenal atresia, Hirschsprung's - Hearing + visual impairment, strabismus - Increased ALL + early-onset dementia

Answer 809

- Women offered antenatal screening/testing (combined test, CVS, amniocentesis) - Clinical suspicion + then FISH for Dx when born

Answer 810

- Regular thyroid checks (every 2y) - ECHO to Dx any cardiac defects - Regular audiometry + eye checks

Answer 811

MDT – - Specialist Dr's (CHD, hypothyroid) - Social services (social care + benefits) - Optician + audiologist - OT/physio/SALT - Additional support with educational needs - Charities like Down's syndrome association

Answer 812

- Severe physical + mental congenital abnormalities due to trisomy 13

Answer 813

- Microcephalic, scalp lesions, small eyes + other eye defects - Cleft lip + palate - Polydactyly (think 13 fingers) - Cardiac + renal malformations

Answer 814

- Trisomy 18, mostly F | - Severe psychomotor + growth retardation if survive 1st year of life

Answer 815

- Prominent occiput - Small mouth + chin (micrognathia) - Low set ears - Flexed, overlapping fingers - Rocker-bottom feet (flat) - Cardiac + renal malformations

Answer 816

- Antenatal abnormalities detected on USS (foetal anomaly scan) - Prenatal Dx with amniocentesis or CVS via DNA PCR - Karyotyping genetic analysis confirms at birth

Answer 817

- Inherited condition, 2nd most common cause of LD - Trinucleotide expansion repeat of CGG caused by slipped mispairing = ≤44 normal, 60–200 = premutation carriers, >200 = fragile X

Answer 818

- Mutation in fragile X mental retardation 1 (FMR1) gene on X chromosome - Inadequate FMRP which plays a role in cognitive development - Always males but females vary

Answer 819

- Spare copy on other X chromosome + reduced penetrance - Even with full mutation usually have fewer problems - Number of CGG repeats often increases as it's inherited so caution in future

Answer 820

- Intellectual disability - Delay speech + language - Delayed motor development (may be secondary to hypotonia) - Aggressive, hyperactive + poor impulse control - "Cocktail personality" = happy bouncy children

Answer 821

- Long narrow face + large ears - Large testicles after puberty - Hypermobile joints (esp. hands) - Hypersensitivity to stimuli

Answer 822

- Autism (up to 30%) - Seizures - ADHD

Answer 823

- Men can get Fragile X-associated tremor ataxia syndrome (FXTAS) = intention tremor, ataxia, memory + cognitive issues as adult, white matter changes on MRI - Females can get FMR1-related POI (endocrinologist input)

Answer 824

- Carrier testing in pregnancy women, can have CVS or amniocentesis - FISH to look at content of cells, DNA testing once born to count # of CGG repeats

Answer 825

- OT = daily tasks - Social services = social care + benefits - Special education = learning help - Challenging behaviours may benefit from risperidone. - PO lorazepam in acute agitation (after de-escalation strategies)

Answer 826

- Lack of a second X chromosome in a female leading to 45, XO

Answer 827

- Short stature, webbed neck, shield chest + widely spaced nipples (classic) - Delayed puberty, underdeveloped ovaries > primary amenorrhoea + infertility - Cubitus valgus

Answer 828

- Coarctation or bicuspid aortic valve - Increased risk of CHD > HTN, obesity - DM, osteoporosis, hypothyroidism - Recurrent otitis media + UTIs - Horseshoe kidney, susceptible to x-linked recessive conditions

Answer 829

- Karyotyping after clinical suspicion = 45XO

Answer 830

- GH therapy to prevent short stature - Oestrogen + progesterone replacement to establish 2ary sex characteristics, regulate menstrual cycle + prevent osteoporosis - Fertility treatment like IVF

Answer 831

- X-linked recessive chromosome 21 = gene deletion for dystrophin (connects muscle fibres to ECM)

Answer 832

- Proximal muscle weakness from 5y - Delayed milestones - Waddling gait - Gower sign +ve - Calf pseudohypertrophy (replaced by fat + fibrous tissue)

Answer 833

- Patient uses hands + arms to "walk" themselves upright from a squatting position due to lack of hip + thigh muscle strength

Answer 834

- Wheelchair by 13y - Cardiac involvement (dilated cardiomyopathy) in teenagers - Resp involvement - Survival >30y unusual

Answer 835

- Clinical exam = Gower's sign - Creatinine kinase markedly raised - Genetic testing to confirm

Answer 836

- Steroids (prednisolone) appear best treatment as improves QOL, longer life expectancy + decreased progression of heart problems - Manage congestive HF + arrhythmias with beta blocker, ACEi.

Answer 837

- OT = aids + adaptations to help live with condition - Physio = prevent contractures, scoliosis correction - NIV for resp failure, gene therapy

Answer 838

- Becker's = some functional dystrophin produced | - Features similar but clinically progresses slower, average age of onset 11y with inability to walk from 20s

Answer 839

- When a male has an additional X chromosome, making 47XXY - Rarely even more X chromosomes like 48XXXY (more severe) - Chief genetic cause of hypergonadotropic hypogonadism

Answer 840

- Often appear normal until puberty - Taller height + wider hips - Delayed puberty (lack of pubic hair, poor beard growth) - Gynaecomastia, small testicles/penis, infertility - Weaker muscles, shyness, subtle learning difficulties (esp. speech + language)

Answer 841

- Increased risk of breast cancer compared to other males - Osteoporosis - Diabetes - Anxiety + depression

Answer 842

- Monthly testosterone injections to promote sexual characteristics - Advanced IVF techniques for infertility - Breast reduction surgery for cosmesis

Answer 843

- SALT - OT for day-day tasks - Physio to strengthen muscles + joints - Educational support if learning difficulties

Answer 844

- Genetic imprinting disorder due to deletion of paternal chromosome 15 or maternal uniparental disomy

Answer 845

- Constant, insatiable hunger > hyperphagia + obesity - Initially failure to thrive due to hypotonia - Small genitalia, hypogonadism + infertility - Narrow forehead, almond eyes, strabismus - LDs, MH issues

Answer 846

- Marked elevated levels of ghrelin (hormone associated with hunger) - Dietician = careful limitation of access to food to control weight (may have to lock food cupboards or fridge)

Answer 847

- GH to improve muscle development + body composition | - MDT = education support, social workers, psychologists/CAMHS, physio + OT

Answer 848

- Genetic imprinting disorder due to deletion of maternal chromosome 15 or paternal uniparental disomy - Loss of function of maternal UBE3A gene

Answer 849

- "Happy puppet" = unprovoked laughing, clapping, hand flapping, ADHD - Fascination with water - Epilepsy, ataxia, broad based gait - Severe LD, delayed development - Widely spaced teeth, microcephaly

Answer 850

- Chromosomal analysis with FISH to detect deletions | - MDT approach = parental education, CAMHS, psychology, physio, SALT, OT

Answer 851

- Autosomal dominant condition with defect on chromosome 12, normal karyotype

Answer 852

- Short stature, webbed neck, widely spaced nipples (Male Turner's) - Pectus excavatum, low set ears - Hypertelorism (wide space between eyes) - Downward sloping eyes with ptosis - Curly/woolly hair

Answer 853

- CHD = pulmonary valve stenosis - Cryptorchidism which can lead to infertility (fertility in women normal) - LDs, bleeding disorders (XI deficient)

Answer 854

- MDT support | - Main complication CHD so may need surgical correction

Answer 855

- Random deletion of genetic material on one copy of chromosome 7 resulting in only single copy of genes from other chromosome 7

Answer 856

- Very friendly + sociable - Starburst eyes (star-pattern on iris) - Wide mouth, big smile + widely spaced teeth - Broad forehead, short nose + small chin - Mild LD, short stature

Answer 857

- Supravalvular aortic stenosis - ADHD - HTN + hypercalcaemia

Answer 858

- MDT approach - ECHO + BP monitoring for complications - Low Ca2+ diet - FISH to confirm Dx

Answer 859

- Autosomal dominant connective tissue disorder caused by fibrillin deficiency

Answer 860

- Tall stature, long neck + limbs - Arachnodactylyl (long fingers) + hypermobility - Pectus carinatum or excavatum - Downward sloping palpebral fissures - High arch palate

Answer 861

- Mitral/aortic valve prolapse with regurgitation + aortic aneurysm due to aortic dilatation (#1 risk) - Joint dislocations + pain - Pneumothorax - Scoliosis - Lens dislocation in the eye

Answer 862

- Minimise BP + HR to minimise stress on heart - Lifestyle (avoid intense exercise, caffeine + other stimulants - Meds = beta-blockers, ACEi - Consider pregnancy carefully as increased risk of aortic aneurysm - May need surgery if aneurysm

Answer 863

- Physio to strengthen joints + reduce Sx from hypermobility - Yearly ECHO + review by ophthalmologist to monitor for complications - Genetic counselling if considering having children

Answer 864

- AD connective tissue disorder due to elastin defect affecting type 3 collagen

Answer 865

- Elastic, fragile skin - Joint hypermobility - Excessive bruising (weak collagen in vessels) - Brain aneurysms (SAH) - "Cigarette paper scars" = shiny, thin scars on skin

Answer 866

- Abnormal 5th branchial arch development > issues with heart, thymus + palate

Answer 867

CATCH 22 – - Cardiac Abnormalities –TOF, coarctation, interrupted aortic arch - Thymus hypoplasia (T cell dysfunction > primary immune deficiency - Cleft palate - Hypocalcaemia (hypoparathyroidism) - 22 = chromosome 22q11 deletion

Answer 868

- T-cell count - CXR to look for thymus - Genetic testing if CHD

Answer 869

i) When half a standard population of children reach that level of development ii) Age a child is expected to have reached a milestone (often 2 standard deviations from the mean)

Answer 870

- Age correct up to 2 years | - 9m born 2 months early should only be expected to be at developmental stage of 7m

Answer 871

- Ongoing process of following child over time | - Can be incorporated into well-child checks, general physical exam or routine vaccine visits

Answer 872

- Gross motor - Fine motor + vision - Speech, hearing + language - Social, emotional + behavioural

Answer 873

i) Limbs flexed, symmetrical posture, head lag on pulling up ii) Lifts head when lying prone + moves it side-side iii) Holds head upright when held sitting iv) Rolls, sits without support (6m = rounded back, 8m = straight back) – Limit age 9m

Answer 874

i) Crawl (some may bottom shuffle or commando crawl) ii) Cruise around furniture iii) Walk unsteadily, broad gait hands apart iv) Walks steadily – Limit age 18m: ?Duchenne's, ?hip issues, ?cerebral palsy

Answer 875

i) Runs, kick ball (2.5y) ii) Jump, stand on 1 leg briefly, pedal tricycle, stairs (1 foot up 2 down) iii) Hops, balance on one leg for few seconds, stairs like adult iv) Rides bike, skip on both feet

Answer 876

i) Turns head to follow object (fix + follow) – Limit age 3m iii) Reaches for toys – Limit age 6m iv) Palmar grasp of objects, transfers toys – Limit age (toys) 9m

Answer 877

i) Early pincer grip ii) Mature pincer grip – Limit age 12m ii) Index finger to point, casting bricks (disappear by 18m) + builds 2 brick tower

Answer 878

i) Crayon scribbles/3 brick tower ii) Vertical line/6 brick tower iii) Copies circle/8 brick tower or train with 4 carriages iv) Circle (copies 6m before in all pencil skills)/copies or makes bridge

Answer 879

i) Cross ii) Square/copies or makes steps iii) Triangle

Answer 880

i) Startles at loud sounds, quietens to parent's voice ii) Cooing noises, vocalises alone or when spoken to "aa, aa" iii) Turns head to sounds, understands "bye bye" + "no" (7m), monosyllabic babbles (consonants) "bababa"

Answer 881

i) Responds to own name, imitates adult sounds "dada, mama" ii) Understands names "drink", 3 words iii) Points to body parts on self (or doll at 18m) iv) 6-10 words, understands nouns "show me the SPOON"

Answer 882

i) Simple sentences "give me toy", understands verbs "what do you DRAW with" ii) Understands prepositions "put the spoon ON the step" iii) Talks in short sentences, "what", "who" questions, understands adjectives "show me the RED brick"

Answer 883

i) Understands comparatives "which one is BIGGER" | ii) "Why", "when", "how" questions, understands complex instructions "before you put x in y give z to mummy"

Answer 884

i) Smiles responsively – Limit age 8w ii) Puts food in mouth, shakes rattle iii) Separation anxiety from parent, stranger fear (until 2y) iv) Waves bye-bye, plays peek-a-boo, claps

Answer 885

i) Drinks from cup with 2 hands ii) Uses spoon to feed self iii) Extends interest beyond parents (waves at strangers), parallel play (next to but not with children), symbolic play (copies actions like feeding a doll), dry by day, removes some clothes

Answer 886

i) Seek out other children + play with them, turn-taking, follows simple rules, bowel control, fork + spoon ii) Has best friend, bladder control, dresses self, imaginative play iii) Knife + fork

Answer 887

- Moro (startle) - Grasp (palmar/plantar) - Sucking/rooting - Stepping - Asymmetrical tonic neck reflex

Answer 888

i) Sudden extension of head causes symmetrical extension then flexion of limbs. Stops 3–4m ii) Touch palm (palmar) or sole (plantar) + baby will grasp or curl toes. Stops 4–5m iii) Head turns to stimulus when touched near mouth, assists in breastfeeding. Stops at 4m

Answer 889

i) Stepping movements when held vertically + dorsum of feet touch surface. Stops at 2m ii) Baby supine + head turned to one side > arm on that side stretches out + opposite flexes at elbow

Answer 890

- Parachute - Postural support - Labyrinthine righting - Lateral propping

Answer 891

i) Suspend baby prone + slowly lower head towards a surface > arms + leg extend in protective fashion i) When held upright if feet touch a surface legs take weight + may push up like a bounce

Answer 892

i) Head moves in opposite direction to which body is tilted | ii) When sitting, arms extends on the side to which child falls as saving mechanism

Answer 893

- Persistence of primitive reflexes + lack of development of postural reflexes is the hallmark of UMN abnormality in the infant (cerebral palsy)

Answer 894

i) Implies slow acquisition of all skills or of one particular field ii) Cognitive, physical, both or relate to specific functional skills iii) Maldevelopment of a skill

Answer 895

i) Loss/abnormality of physiological function or anatomical structure ii) Any restriction or lack of ability due to the impairment iii) Results from disability + limits fulfilment of a normal role

Answer 896

- Prenatal - Perinatal - Postnatal

Answer 897

- Genetics (Down's, fragile X) - Congenital hypothyroidism - Teratogens (alcohol + drug abuse) - Congenital infection (TORCH) - Neurocutaneous syndromes (tuberous sclerosis, neurofibromatosis)

Answer 898

- Extreme prematurity (intraventricular haemorrhage) - Birth asphyxia (HIE) - Hyperbilirubinaemia - Hypoglycaemia

Answer 899

- Infection (meningitis, encephalitis) - Anoxia (suffocation, near-drowning, seizures) - Head trauma (accidental or NAI) - Hypoglycaemia

Answer 900

- Bio = prems, LBW, birth asphyxia, hearing/vision impairment - Environment = poverty, poor parental education, maternal substance abuse

Answer 901

- Slow development in all developmental domains - Presents in first 2y of life - Down's, fragile X, foetal alcohol syndrome, Rett syndrome + metabolic disorders

Answer 902

- Slow development in gross motor domain | - Cerebral palsy, ataxia, myopathy, spina bifida + visual impairment

Answer 903

- Slow development in fine motor domain | - Dyspraxia, cerebral palsy, muscular dystrophy, visual impairment, congenital ataxia (rare)

Answer 904

- Slow development in speech + language domain | - Specific social circumstances, hearing impairment, LD, neglect, autism + cerebral palsy, cleft lip/palate

Answer 905

- Exposure to multiple languages, sibling that do all the talking - Referral to SALT, audiology + health visitor with safeguarding if ?neglect

Answer 906

- Slow development in personal + social domain | - Emotional + social neglect, parenting issues + autism

Answer 907

- Thorough Hx + exam (hearing + vision) - Cytogenic (chromosome karyotype) - Metabolic (TFTs, LFTs, U+Es, CK, lactate) - Infection (congenital infection screen) - Focal neuro (CT/MRI head, EEGs)

Answer 908

- Permanent disorder of movement + posture due to a non-progressive lesion of motor pathways in the developing brain - Sx develop over time as the brain starts to develop

Answer 909

- Antenatal (80%) = genetics, congenital malformations or infections - Intrapartum (10%) = hypoxic-ischaemic injury - Postnatal (10%) = IV haemorrhage (prems), meningitis/encephalitis, trauma (NAI), hydrocephalus, kernicterus

Answer 910

- Abnormal limb/trunk tone + posture with delayed motor milestones - Feeding issues > oromotor incoordination, slow feeding, gagging + vomiting - Abnormal gait when walking achieved - Hand preference before 12m + primitive reflexes after 6m

Answer 911

- LDs, epilepsy, squints + hearing impairment | - Joint contractures, hip subluxation + scoliosis

Answer 912

- Spastic (pyramidal, 70%) - Ataxic (10%) - Dyskinetic (athetoid, 10%) - Mixed (10%)

Answer 913

- UMN pathways damaged (pyramidal or corticospinal) so UMN signs - Limb tone persistently increased (spasticity, velocity-dependent) - Brisk deep tendon reflexes + extensor plantars (+ve Babinski) - Increased limb tone may suddenly yield under pressure (clasp knife)

Answer 914

- Hemiplegic - Quadriplegic - Diplegic

Answer 915

- Unilateral involvement of arm + leg (arm worse) - Face spared, fisting of affected hand, flexed arm, tip-toe walking - Presents 4–12m, normal birth with no HIE

Answer 916

- All 4 limbs, trunk involved with tendency to opisthotonus (extensor posturing), poor head control + low central tone - More severe > associated with seizures, microcephaly, low IQ - May have Hx of HIE

Answer 917

- All 4 limbs (legs worse) - Hand function may be relatively normal but walking abnormal - Linked with preterm birth (periventricular brain damage)

Answer 918

- Cerebellum affected > cerebellar signs - Early trunk + limb hypotonia (symmetrical) - Poor balance + delayed motor development - Incoordination, ataxic gait + intention tremor - Mostly genetics, can be acquired brain injury

Answer 919

- Intellect unimpaired as basal ganglia affected (extra-pyramidal) - Chorea, athetosis, dystonia - Muscle tone is variable (floppiness), involuntary movements, poor trunk control - Associated with kernicterus + HIE

Answer 920

i) Irregular, sudden + brief non-repetitive movements ii) Slowly writhing movements distally like fanning fingers iii) Twisting appearance from simultaneous contraction of agonist + antagonist muscles

Answer 921

- Clinical Dx (assess posture, pattern of tone, hand function + gait) - Functional ability judged by Gross Motor Function Classification System - MRI head to identify cause but not necessary for Dx

Answer 922

- I = walks without limitation - II = with limitation - III = handheld mobility device - IV = III with limitation - V = wheelchair

Answer 923

- Drs - Physio (tone + posture issues) - SALT (swallowing issues) - OT (home adjustments, help with ADLs) - School (special educational needs) - Social workers (benefits) - Dietitians (?PEG feeding)

Answer 924

- PO or IT baclofen - PO diazepam - Botox injection - Orthopaedic surgery

Answer 925

- Visual acuity is poor in the newborn but increases to adult levels by age 4

Answer 926

Genetic – - Congenital cataracts - Albinism - Retinal dystrophy - Retinoblastoma

Answer 927

- Loss of red reflex (i.e. cataract) - White reflex in pupil (retinoblastoma, cataract, retinopathy of prematurity) - Not smiling responsively by 6w - Lack of eye contact with parents - Random eye movements - Failure to fix + follow - Nystagmus, squint, photophobia

Answer 928

- Pre-school + school entry

Answer 929

- Misalignment of visual axis (squint) | - Transient neonatal misalignments common in first few months when looking at near objects, reduce by 2m, gone by 12w

Answer 930

- Concomitant (non-paralytic, common) = often refractive error, differences in control of extra-ocular muscles - Paralytic (rare) = paralysis in ≥1 of the extra-ocular muscles (if rapid onset may be sinister SOL)

Answer 931

- Manifest = present when views a target binocularly | - Latent = binocular vision interrupted

Answer 932

- Esotropia = inward moving (cross-eyed) - Exotropia = outward moving - Hypertropia = upward moving - Hypotropia = downward moving - Latent is same but -phoria not -tropia (esophoria etc)

Answer 933

- When eyes not aligned the images on retina do not match + pt will experience diplopia - When this occurs in paeds, before the eyes have fully established their connections within the brain, the brain will cope by reducing the signal from the less dominant eye

Answer 934

- One eye used to see (dominant) + one eye ignored (lazy) | - If untreated lazy eye becomes progressively more disconnected from brain over time + problem worsens (amblyopia)

Answer 935

- Multifactorial (combination of hereditary + refractive errors) - Idiopathic - Secondary to vision loss - Higher incidence in cerebral palsy - SOL (retinoblastoma) rare but suspect if sudden onset + other neurology

Answer 936

- Hypermetropia = long-sightedness (common, hard to see nearby objects) - Myopia = short-sightedness (uncommon, less likely to cause permanent visual damage) - Amblyopia = defective visual acuity that persists after correction of refractive error + removal of any pathology (lazy eye)

Answer 937

- Often unilateral, potentially permanent loss of visual acuity in an eye that has not received a clear image - Any interference with visual development > squint, refractive error, ptosis, cataracts

Answer 938

- (Single) cover test for manifest/tropias - Cover-uncover (alternate cover) test for latent/phorias - Corneal light reflex test (Hirschberg's test) - Important to assess visual acuity + ocular movements to exclude paralytic

Answer 939

- Cover eye + observe the other eye for a shift in fixation - Direction of shift indicates the type of tropia - Close (33cm) + distant (6m) as some squints only present at one distance

Answer 940

- Helps determine if misalignment is a tropia or phoria - Occlude eye + then quickly uncover, observing the occluded eye for refixation movement - A phoria will shift back to being straight, direction is opposite to the movement (shifts lateral = esophoria)

Answer 941

- Shine a pen torch in the eyes | - Reflection of light should appear in the same position in both eyes

Answer 942

- Early Tx = better to avoid damage, <7y ideal - Refractive adaptation = wear appropriate glasses for 16-18w - Occlusion of 'good' eye (part/full time) to force weaker eye to develop - Atropine drops in better eye causing vision in that eye to be blurred

Answer 943

- Restore comfortable binocular single vision - Eliminate diplopia - Restore good alignment of the eyes

Answer 944

- Glasses/contact lenses - Prisms for diplopia - Orthoptic exercises to improve control over eye muscles

Answer 945

- Botox injections = paralyse the muscle that is pulling the eye in a certain direction - Esotropia = MR, exotropia = LR - May need repeat injections as effects wear off, ketamine anaesthesia

Answer 946

- Strengthening procedure = resection of muscle on side eye does not face - Weakening procedure = recession of muscle on side the eye goes towards - Esotropia = bilateral MR recession or MR recession + LR resection - Exotropia = bilateral LR recession or LR recession + MR resection

Answer 947

- Sensorineural = nerve damage (progressive, never reversible) - Conductive = obstruction in ear canal which prevents sound from getting through, bone conduction can still transmit sound (often reversible) - Mixed

Answer 948

- #1 = congestion behind eardrums (viral URTI) - Glue ear, ear wax, middle ear infection, perforated ear drum - Structural abnormality of the outer ear (syndromes)

Answer 949

- Genetic or syndromes - Perinatal (trauma, infection, hypoxia) - Congenital infections (rubella, CMV) - Meningitis (pneumococcus can cause ossification of cochlear)

Answer 950

i) Down's syndrome, craniofacial syndromes + cleft palate | ii) Premature, FHx + consanguinity

Answer 951

- Parental concern - Incidental finding on screening - Problems with speech, behaviour or education (ignoring calls or sounds)

Answer 952

- Sits near TV + volume loud - Misunderstands/slow in responding or answers incorrectly - Soft/fuzzy speech - Does not turn immediately when named called

Answer 953

- Evoked otoacoustic emission (EOAE) | - Auditory brainstem response (ABR) audiometry if EOAE fails

Answer 954

- Earphone produces sound which evokes an echo from ear if cochlear function normal - Simple + quick - Misses auditory neuropathy, cochlear test not hearing, high false +ve in first 24h

Answer 955

- Computer analysis of EEG waveforms evoked in response to auditory stimuli - Screens hearing pathway ear>brainstem, low false +ve rate - Affected by movement (time consuming), electrodes on infant's head, complex computerised gear

Answer 956

- Distraction testing - Relies on baby locating + turning appropriately to high + low frequency sounds out of field of vision - 2x trained staff

Answer 957

- Visual reinforcement audiometry - Hearing thresholds are established using visual rewards (illumination of toys) to reinforce the child's head turn to stimuli of different frequencies - First test that does single ear measures

Answer 958

i) Performance testing = child performs an action when hear a noise ii) Speech discrimination tests (McCormick toy test) iii) Pure tone audiometry at school entry = child responds to pure tone stimulus with headphones

Answer 959

- Rinne's test (mastoid then external acoustic meatus) - Weber's (forehead in midline) - Audiograms

Answer 960

- Normal = louder at EAM - Conductive = louder on mastoid - Sensorineural = both decreased

Answer 961

- Normal = vibrations equal in both ears - Conductive = louder in abnormal ear - Sensorineural = louder in normal ear

Answer 962

- Frequency (Hz, x) low>high + volume (dB, y) bottom = loud - Anything above 20dB line is normal - Sensorineural = both air + bone conduction impaired (>20dB) - Conductive = only air conduction impaired (>20dB), bone normal - Mixed = both impaired but air worse (>15dB difference)

Answer 963

- Developmental delay (speech + language) - Social/behavioural problems (too loud or too quiet) - Impact on education, friendships/social life + psychologically

Answer 964

- Most self-limiting so watch + wait - ENT referral for insertion of grommets to help drain excess fluid if necessary - Temporary hearing aids or if permanent cause

Answer 965

- Hearing aids > aim to improve hearing so as much speech audible as possible - Cochlear implants reserved for profound hearing loss (>95dB), high frequency, bilateral hearing loss or meningitis related

Answer 966

- Correct conductive problem first + then offer hearing aid

Answer 967

- MDT + multi-agency (health, social services, education) with aim of providing coordinated service with good inter-agency liaison to meet the functional needs of the child

Answer 968

- Liaise between home, school + the child's care needs - Assess child's functional ability + need - Provide therapy + psychosocial support where needed - Ensure health needs of child are met

Answer 969

- Paediatrician = Ax, Ix + Dx, continuing medical Mx, coordination - Physio = balance + mobility, prevent contractures, mobility aids - OT = ADLs, house adaptations - SALT = feeding, speech + language development - Dietician = advice on nutrition - Social worker = benefits - Psychologist = cognitive testing, behaviour management - Specialist health visitor + key workers = coordinate MDT + multi-agency care

Answer 970

- Sudden disturbance of neurological function due to excessive neuronal discharge

Answer 971

- Epilepsy - Febrile convulsions - Metabolic (hypoglycaemia, hypocalcaemia) - Head trauma, infection (meningitis, encephalitis) - Toxins, iatrogenic (post-brain surgery)

Answer 972

- Seizures provoked by a fever in otherwise normal children - Usually early in viral infections as temperature rises rapidly - 3% of children, 6m–6y + often genetic predisposition - Simple, complex or febrile status epilepticus

Answer 973

- Generalised (tonic-clonic) seizure - <15m - Typically no recurrence within 24h - Recovery within 1h

Answer 974

- Focal seizure - 15–30m - May recur within 24h - Febrile status epilepticus if >30m

Answer 975

- Usually no lasting damage - 1 in 3 will have another febrile convulsion - 2-7% will develop epilepsy after simple, 10–20% after complex

Answer 976

- Period of observation, paeds referral if first seizure or complex - Antipyretics have NOT shown to reduce risk of recurrence - Education = stay with them, ensure safe, nothing in mouth, call 999 if lasts >5m, teach how to use PR diazepam or buccal midazolam if Hx of prolonged seizures (>5m)

Answer 977

- Recurrent tendency to have unprovoked seizures - Ictal = early phase w/ positive Sx such as excessive activity (jerky actions) - Post-ictal = later phase w/ negative Sx such as weakness, drowsiness

Answer 978

- 2/3rd idiopathic, FHx, alcohol/drugs (+ withdrawal) - Brain injury (hypoxia, trauma, surgery) - SOL (tumour, abscess) - CNS infection (meningitis, encephalitis)

Answer 979

- Focal/partial seizures = arise from one area of cortex or part of one hemisphere - Generalised = discharge arises from both hemispheres

Answer 980

- Simple-partial = consciousness + awareness - Complex-partial = without consciousness + awareness - Secondary generalised = seizures start in one hemisphere but then spread to both (focal>general)

Answer 981

i) Strange smells, motor movements, Jacksonian march ii) Déjà/jamais-vu, automatisms (chewing, lip smacking), hallucinations, aura/sensations, amnesia iii) Contralateral altered sensations (tingling, electric-shock) iv) Flashing lights, eyelid fluttering, eye movements

Answer 982

i) Motor twitch starts on one side of body then "marches" over a few seconds to affect larger parts of both like entire hand, foot + may generalise ii) Focal weakness in a part or all of the body after a seizure

Answer 983

- Absence seizures - Tonic-clonic seizures - Myoclonic seizures - Atonic (akinetic) seizures "drop attacks"

Answer 984

- Brief (<30s) pauses where activity stops (still, silent, stares), may have slight eyelid flickering, can be precipitated by hyperventilation - Onset 4-8y, F>M, may progress tonic-clonic later - EEG = 3hz generalised spike, symmetrical - Good, 90% seizure free in adolescence

Answer 985

- Tonic = vague warning, rigidity, falls + may make sound, LOC + can stop breathing - Clonic = convulsions, bilateral rhythmic muscle jerks, irregular breathing, may tongue bite (lateral) or urinary incontinence - Post-ictal = drowsy, confused, irritable or depressed

Answer 986

- Brief, sudden muscle contractions like jerk of limb, face or trunk - Usually remains awake, can occur in juvenile myoclonic epilepsy - Can be physiological (hiccups, sleep myoclonus)

Answer 987

- Brief, sudden loss of muscle tone causing a fall but no LOC - Often begin in childhood, ?indicate Lennox-Gastaut syndrome

Answer 988

- Infantile spasms (West's syndrome) - Lennox-Gastaut syndrome - Juvenile myoclonic epilepsy - Benign Rolandic epilepsy = M>F, paraesthesia (unilateral face, tongue, twitching) during sleep, EEG shows centrotemporal focal spike waves

Answer 989

- Early life (4-6m), M>F, often secondary to serious neuro abnormality (tuberous sclerosis, encephalitis, birth asphyxia) - Vigabatrin or corticosteroids (poor prognosis)

Answer 990

- Violent flexor spasms of head, trunk + limbs followed by extension of arms (salaam spasms) for 1-2s, can repeat up to 50 times - Progressive mental handicap - EEG shows hypsarrhythmia

Answer 991

- Can be extension of infantile spasms, 1-5y - Atypical absences, falls, jerks + 90% have mod-severe mental handicap - EEG shows slow spike, ketogenic diet may help

Answer 992

- Teens, F>M - Infrequent generalised seizures (often morning), daytime absences, sudden shock-like myoclonic seizures (can happen before seizures) - Good response to valproate

Answer 993

- Mostly clinical Dx + witness Hx crucial - Exclude organic causes with FBC, U+E, LFTs, glucose, ECG - EEG, often sleep deprived or hyperventilate to provoke - ?Neuroimaging (CT/MRI head) if focal neurology + concerns of SOL

Answer 994

- Ensure little harm, maintain airway, do not restrain | - Aim for monotherapy, maximum tolerated dose before changing or adding drugs, avoid abrupt withdrawal

Answer 995

- 1st line = sodium valproate | - 2nd line = lamotrigine, carbamazepine (TC), clonazepam (myoclonic)

Answer 996

- 1st line = carbamazepine or lamotrigine | - 2nd line = levetiracetam or valproate

Answer 997

- Ethosuximide or sodium valproate

Answer 998

- Can exacerbate absent + myoclonic seizures | - Vagal stimulation, surgery (hemispherectomy, non-dominant lobectomy)

Answer 999

i) Pain or discomfort, cold food, fright (emotions) ii) Cardiac asystole from vagal inhibition to heart (syncopal episode) iii) Child becomes pale + falls to floor, hypoxia may induce generalised tonic-clonic seizure which is brief + child RAPIDLY recovers iv) Ocular compression under controlled conditions often lead to asystole + paroxysmal slow-wave discharge on EEG

Answer 1000

i) Upset, worked up or angry ii) Child cries, holds their breath + goes cyanotic, sometimes brief LOC but RAPID recovery iii) Linked with Fe anaemia so treating as such may minimise further ones

Answer 1001

- Syncope - Migraine - Benign paroxysmal vertigo - Cardiac arrhythmias - NEAD - Fabricated by parent or child

Answer 1002

i) Clonic movements may occur, triggers like hot/stuffy, standing long ii) Can happen ± headache, unsteadiness/light headedness with other classic migraine Sx iii) Nystagmus, unsteady, headache

Answer 1003

- Neurofibromatosis (type 1 + 2) + tuberous sclerosis | - AD

Answer 1004

- No intellectual problems but lots of skin involvement - >5 café-au-lait spots - Axillary freckling in skin folds - Iris hamartomas, scoliosis + pheochromocytomas - Peripheral neurofibromas

Answer 1005

- Hearing problems with no skin involvement | - Bilateral vestibular schwannomas > sensorineural hearing loss then tinnitus + vertigo

Answer 1006

- Hypopigmented 'ash-leaf' spots which fluoresce under UV light - Roughened (Shagreen) patches of skin over lumbar spine - Angiofibromas (butterfly distribution over nose) - Subungual fibromata

Answer 1007

- Neuro = epilepsy (infantile spasms or partial), developmental delay + intellectual impairment - Retinal hamartomas, polycystic kidneys, rhabdomyomata of heart - CT/MRI will detect calcified subependymal nodules + tubers from 2nd year of life

Answer 1008

- Failure of normal fusion of the neural plate to form neural tube during first 28d pregnancy - 10x increased risk of second foetus having similar problems - Insufficient folic acid + AEDs

Answer 1009

- Spina bifida occulta (#1) - Meningocele - Myelomeningocele (most severe) - Anencephaly - Encephalocele

Answer 1010

- Failure of fusion of the vertebral arch, often incidental XR finding - Site may have identifiable birthmark, lipoma or hair patch (lumbar) - Neurosurgery

Answer 1011

- Sac of fluid protruding spinal canal (without neural tissue), not exposed

Answer 1012

- Sac of fluid protruding spinal canal (with neural tissue), open lesion - Paralysis of legs, dislocation of hip + talipes, sensory loss, neuropathic bladder + bowel, scoliosis + hydrocephalus from Chiari malformation

Answer 1013

- Herniation of cerebellar tonsils + brainstem > foramen magnum = disrupt CSF flow - Close back lesion, physio for paralysis, ?indwelling catheter, shunt

Answer 1014

- Failure to develop cranium + brain, stillborn or die rapidly - Antenatal USS Dx with TOP usually performed

Answer 1015

- Brain + meninges extrude through midline skull defect | - Surgical correction but often underlying cerebral malformations

Answer 1016

- Folic acid (0.4mg for normal pregnancies, 5mg if high risk

Answer 1017

- Lowers blood glucose by stimulating uptake from blood into muscle, kidney + fat cells as well as targeting the liver to convert glucose to glycogen

Answer 1018

- Absolute insulin deficiency means that glycogenolysis, gluconeogenesis + lipolysis are not suppressed + there is reduced peripheral glucose uptake > hyperglycaemia

Answer 1019

- Autoimmune destruction of the pancreatic beta cells | - Associated with HLA-DR3 + HLA-DR4 genetics + environment

Answer 1020

- Can be incidental finding - Polydipsia, polyuria (+ nocturia, weight loss, fatigue - Less commonly secondary enuresis or recurrent infections - Left untreated > DKA

Answer 1021

- Symptomatic = 1 reading, asymptomatic = 2 separate readings - Fasting glucose ≥7.0mmol/L - Random glucose ≥11.1mmol/L (or 2h after 75g OGTT) - HbA1c ≥48mmol/mol (long-term impression of control)

Answer 1022

- Impaired fasting glucose 6.1-6.9mmol/L - Impaired glucose tolerance 7.8-11.1mmol/L - Pre-diabetes 42-47mmol/mol (HbA1c)

Answer 1023

- Many factors can increase glucose (sex hormones at puberty, stress, illness, food) or decrease (insulin, exercise, alcohol, some drugs) - May have hyperglycaemia + need insulin dose increased or hypoglycaemia or worst case DKA

Answer 1024

- Macrovascular - Microvascular - Increased risk of illnesses (UTIs, pneumonia, fungal infections) - Screen for other autoimmune conditions (TFTs + TPO Ab, anti-TTG, insulin Abs)

Answer 1025

- IHD - Peripheral ischaemia > poor healing ulcers + "diabetic foot" - Stroke + HTN (check BP annually)

Answer 1026

- Peripheral neuropathy = good foot care with treating infections early - Retinopathy = annual check-up after 5y of diabetes or after puberty - Renal disease (esp. glomerulosclerosis) = annual screening for microalbuminuria

Answer 1027

- Diet = reduced refined carbs, carb counting, high fibre - Adjust diet + insulin for exercise, 'sick-day rules' - BMs = capillary BM to adjust insulin or continuous glucose monitoring like FreeStyle Libre (lag in results mean confirm hypo with capillary BM) - Recognising + treating hypos - Support groups (Diabetes UK)

Answer 1028

- Insulin - Basal bolus = basal > long-acting insulin like Lantus given in evening as background, bolus > short-acting insulin like Actrapid before meals according to carb counting

Answer 1029

- Insulin pump to continuously infuse insulin at different rates - Better at glucose control, more eating flexibility + less injections - But attached constantly, can have blockages + small risk of infection

Answer 1030

- Lipohypertrophy (rotate site) - Risk of hypoglycaemia - Weight gain

Answer 1031

- V uncommon, suspect if FHx, from Indian subcontinent + severely obese - Can have signs of insulin resistance (acanthosis nigricans, skin tags or PCOS)

Answer 1032

- Absence of insulin leads to uncontrollable lipolysis | - Increased production of free fatty acids which are oxidised in the liver to ketone bodies leading to ketoacidosis

Answer 1033

- Initially, kidney produces bicarbonate to counteract but this is used up > acidotic - Hyperglycaemia overwhelms the kidneys + glucose starts being filtered into the urine + draws water out with it in the process (osmotic diuresis) leading to polyuria + severe dehydration, stimulating thirst centre (polydipsia)

Answer 1034

- Kidneys excrete K+ in urine so overall body K+ is low so when treatment with insulin starts can develop severe hypokalaemia as insulin drives K+ into cells

Answer 1035

- Smell of acetone on breath (pear drops) - Vomiting, dehydration, abdominal pain - Hyperventilation due to acidosis (Kussmaul's breathing) - Drowsiness, coma + hypovolaemic shock

Answer 1036

Diagnosis – - Glucose >11mmol/L - Blood ketones >3mmol/L - Blood gas pH <7.3 or bicarb <15mmol/L (metabolic acidosis) ECG = signs of hypokalaemia (U waves, small/absent T, long PR, ST depression) - U+Es + creatinine show dehydration, hypokalaemia

Answer 1037

- Cerebral oedema (neuro obs) - VTE - Hypokalaemia > arrhythmias - AKI

Answer 1038

- ABCDE = ?airway, 100% oxygen by face mask, IV cannula + bloods, cardiac monitor, BP + HR - Aggressive IV fluid resus over 48h is first CRUCIAL step

Answer 1039

- 5% if pH 7.2–7.29 or bicarbonate <15 (mild) - 7% if ph 7.1–7.19 or bicarbonate <10 (mod) - 10% if pH <7.1 or bicarbonate <5 (severe)

Answer 1040

i) 1st bolus = 0.9% NaCl 20ml/kg, subsequent 10ml/kg, do NOT subtract bolus from deficit ii) 0.9% NaCl 10ml/kg over 1 hour, DO subtract bolus from deficit iii) 0.9% NaCl with 40mmol/L KCl (20mmol in 500ml bag)

Answer 1041

- Risk of cerebral oedema = headache, altered behaviour or GCS - CT head, IV mannitol + hypertonic saline if suspect

Answer 1042

- Insulin infusion 1-2h after IV fluids = Actrapid 0.05-0.1 unit/kg/h - Once blood glucose <15mmol/L, add 5% dextrose to fluids - Monitor ketones, glucose, plasma electrolytes, GCS, obs, strict fluid balance hourly

Answer 1043

- Low blood sugar level, defined as <2.6mmol/L | - Too much insulin, lack of carbs or not processing the carbs properly (diarrhoea, vomiting, malabsorption)

Answer 1044

- Tremor, sweating, irritability, nauseous, dizzy, pale, confused, drowsy - More severe = reduced GCS, coma, seizures + even death - Hypo phenomena

Answer 1045

- Hypo unawareness - Reactive hypoglycaemia (after meal) - Somogyi = post-hypoglycaemic hyperglycaemia - Dawn phenomena = morning rise in blood sugar

Answer 1046

- Check BM to confirm + lab confirmation - PO if can tolerate with rapid acting glucose (sugary drink) - Follow up with longer acting carb (biscuits, toast) - Glucogel if cannot tolerate, check BM after 15m

Answer 1047

- Do NOT attempt to give anything orally - IV dextrose (2ml/kg bolus then infusion) - IM glucagon (<5y = 0.5mg, >5y 1mg) - Wait 10m + if conscious give longer-acting carb

Answer 1048

- Affects 1 in 3000 births + causes severe neurological dysfunction which leads to severe learning difficulties later in life

Answer 1049

i) Iodine deficiency ii) Maldescent of the thyroid or an absent thyroid gland (athyrosis) – Remains as a lingual mass or unilobular small gland iii) Dyshormonogenesis (inborn error of thyroid hormone synthesis) – Goitre due to TSH stimulation

Answer 1050

- Prolonged neonatal jaundice - Delayed mental + physical milestones - Puffy face, macroglossia + hypotonia - Failure to thrive + feeding problems - Coarse facies + hoarse cry

Answer 1051

- Should be picked up on Guthrie neonatal bloodspot test | - TFTs = TSH high, may have USS neck or thyroid isotope scan

Answer 1052

- Lifelong PO thyroxine 30m before breakfast - Titrate dose to maintain normal growth, start at age 2–3w - Severe neuro disability (spasticity, gait issues, dysarthria) - Normal TSH levels is most important at indicating long-term well controlled thyroid disease

Answer 1053

- Increased risk with Down or Turner syndrome | - Most commonly autoimmune thyroiditis (e.g. Hashimoto's)

Answer 1054

(Same as adult) - F>M, cold intolerance, dry skin, thin + dry hair - Bradycardia, constipation, goitre - Delayed puberty, obesity

Answer 1055

- TFTs will show high TSH, anti-thyroid peroxidase antibodies if hashimoto's - Lifelong PO thyroxine replacement

Answer 1056

- Graves' disease (autoimmune) secondary to production of thyroid stimulating immunoglobulins - Transplacental IgG exchange if mother has Graves' disease

Answer 1057

- Sweating, increased appetite, weight loss - Diarrhoea, psychosis, tremor, tachycardia - Rapid growth in height + advanced bone maturity - Eye disease less common in children

Answer 1058

- TFTs = T3/4 high, TSH low | - TSH receptor stimulating antibody (TRAb) in Graves' disease

Answer 1059

- 1st line = carbimazole or propylthiouracil (either dose titration or block + replace with thyroxine) - Radioiodine can be used too - May need subtotal thyroidectomy to give permanent remission - Beta-blockers for symptomatic relief

Answer 1060

- Affects precursors to B + T cells > uncontrolled proliferation of immature blast cells affecting both the blood + bone marrow - 80% of leukaemias in children, peaks at 2–5y - Trisomy 21, immunocompromised (HIV, immunosuppressants)

Answer 1061

- General = anorexia, fever, weight loss, night sweats - Bone marrow infiltration with leukaemic blast cells - Reticuloendothelial infiltration with leukaemic blast cells - Other organ infiltration (more common at relapse)

Answer 1062

i) Anaemia (pallor, lethargy), neutropenia (frequent or severe infections, thrombocytopenia (bruising, petechiae, epistaxis) ii) Hepatosplenomegaly, lymphadenopathy iii) CNS = headaches, vomiting + nerve palsies, testicular enlargement, bone pain

Answer 1063

- FBC + blood film = pancytopenia, WCC up or down, circulating blast cells - Bone marrow aspiration to Dx - CXR to identify mediastinal mass - LP to identify CNS involvement

Answer 1064

- Age 2-10 - Female - WCC <20 - No CNS disease - Caucasian

Answer 1065

- Psychological impact of childhood cancer - Fertility = offer to freeze eggs or sperm before Tx - CNS development, growth impact, delayed puberty, cardiac + renal toxicity

Answer 1066

- Correct abnormalities with blood/platelet transfusion - Fluids for hydration - Allopurinol to protect kidneys from tumour lysis syndrome

Answer 1067

- Remission induction - Consolidation + CNS protection - Interim maintenance - Intensification - Continuing maintenance (same drugs as interim)

Answer 1068

i) Combo chemo often IV vincristine + dexamethasone ii) IT chemo (methotrexate) iii) Mod intensity chemo, co-trimoxazole prophylaxis for PCP iv) Intensive chemo to consolidate remission v) 2y for girls, 3y for boys as higher recurrence

Answer 1069

- Bone marrow transplantation

Answer 1070

- Malignancies of lymphocytes which accumulate in lymph nodes, may also infiltrate organs + divided histologically - Hodgkin's lymphoma (more common in adolescence) - Non-Hodgkin's (more common in childhood)

Answer 1071

- Mostly self-limiting like viral URTI (cold, tonsillitis) - Can be HIV, autoimmune or malignancies - Enlarging node without infective cause, persistently enlarged, unusual site (supraclavicular), presence of B Sx or abnormal CXR

Answer 1072

- Painless lymphadenopathy, mostly neck (alcohol induces pain) - Larger + firmer lymph nodes than in benign lymphadenopathy - Lymph nodes may cause airway obstruction - B Sx (sweating, pruritus, weight loss, fever)

Answer 1073

- Lymph node biopsy will show characteristic Reed-Sternberg cells – Mirror-image nuclei, often bi/multinucleate malignant lymphocytes - CT/PET CAP for staging using Ann Arbor system

Answer 1074

- I = confined to single LN region - II = ≥2 nodal areas on same side of diaphragm - III = nodal areas on both sides of diaphragm - IV = spread beyond LNs - Each staged subdivided to A if no systemic Sx or B if 'B' Sx

Answer 1075

- Combination chemo ± radiotherapy (overall 80% cured)

Answer 1076

- T-cell malignancies - B-cell malignancies - Extra-nodal disease

Answer 1077

- May present as ALL or non-Hodgkin lymphoma both being characterised by a mediastinal mass with bone marrow infiltration - Mediastinal mass may cause SVC obstruction

Answer 1078

- Present as non-Hodgkin lymphoma with localised lymph node disease, usually in head + neck or abdomen

Answer 1079

- Often GI > pain from obstruction, a palpable mass or even intussusception

Answer 1080

- Biopsy, stage with CT/MRI CAP + examine bone marrow (aspirate) + CSF - Multi-agent chemo = 80% survival rates

Answer 1081

- Almost always primary (unlike adults) | - 60% are infratentorial

Answer 1082

- Astrocytoma (#1) varies from benign to glioblastoma multiforme - Medulloblastoma arises in the midline of posterior fossa, may have spinal mets - Ependymoma mostly in posterior fossa where it behaves as medulloblastoma - Brainstem glioma - Craniopharyngioma

Answer 1083

- Developmental tumour arising from squamous remnant of Rathke pouch - Not truly malignant but locally invasive (bitemporal hemianopia often lower quadrant as superior chiasmal compression)

Answer 1084

- Evidence of raised ICP | - Focal neurology dependant on where the lesion is

Answer 1085

- Headache worse in morning - Papilloedema - Vomiting, esp. in the morning - Behaviour or personality change - Visual disturbance (squint secondary to 6th nerve palsy, nystagmus)

Answer 1086

- Spinal tumours = back pain, peripheral weakness of arms/legs or bladder + bowel dysfunction depending on level of lesion - Ataxia, seizures

Answer 1087

- MRI for visualisation | - Avoid LP if raised ICP

Answer 1088

- Outcome depends on location, how much is cleared + how much healthy brain tissue removed - Survivors face neuro disability, growth + endocrine problems, neuropsychological issues

Answer 1089

- 1st line = surgical resection + ventriculoperitoneal shunt to reduce risk of coning + treat hydrocephalus - Chemo (fewer options as less drugs cross BBB) or radiotherapy

Answer 1090

- Arise from neural crest tissue in the adrenal medulla + sympathetic nervous system, most common <5y, NOT brain tumour - Mass anywhere along sympathetic chain so could lead to spinal cord compression

Answer 1091

- Spontaneous regression sometimes occur in v young infants | - Spectrum from benign (ganglioneuroma) to highly malignant neuroblastoma

Answer 1092

- Abdominal mass - Sx of metastatic = weight loss, hepatomegaly, pallor, bone pain + limp - Uncommon = paraplegia, cervical lymphadenopathy, proptosis, periorbital bruising, skin nodules

Answer 1093

- Often crosses midline + envelopes major vessels + lymph nodes - Can grow very large - Classically abdo primary is of adrenal origin

Answer 1094

- Raised urinary catecholamine levels - CT/MRI + confirmatory biopsy - Evidence of metastatic disease = bone marrow sampling, MIBG scan ± bone scan

Answer 1095

- Localised primaries + no mets can often be cured with surgery - Metastatic = chemo, autologous stem cell rescue, surgery + radio - Immunotherapy may be used for long-term maintenance

Answer 1096

- Nephroblastoma that originates from embryonal renal tissue, cure rate 80% - >80% present before age 5, rare after 10y - FHx = Wilm's tumour susceptibility gene

Answer 1097

- Large abdominal mass found incidentally in an otherwise well child - May have flank pain, anorexia, anaemia, painless haematuria + HTN

Answer 1098

- USS ± CT/MRI showing intrinsic renal mass distorting the normal structure - Mass with characteristic mixed tissue densities (cystic + solid) - Staging for distant mets (often lung), biopsy for histology Dx

Answer 1099

- Initial chemo followed by delayed nephrectomy (full if 1 kidney, partial if bilateral but RARE) - Radiotherapy for more advanced disease

Answer 1100

- Most common is rhabdomyosarcoma | - Thought to originate from primitive mesenchymal tissue

Answer 1101

- Head + neck most common sites > proptosis, nasal obstruction, blood stained nasal discharge - GU > dysuria, urinary obstruction, scrotal mass, PV bloody discharge - Mets > lung, liver, bone or bone marrow with poor prognosis

Answer 1102

- Biopsy + full radiological assessment of primary + any metastasis - Multimodality treatment with chemo, surgery + radio

Answer 1103

- Osteogenic sarcoma more common than Ewing sarcoma but Ewing seen more in younger children - Both have male predominance - Uncommon before puberty

Answer 1104

- Limbs most common site (particularly femur, tibia + humerus) - Persistent localised bone pain often precedes mass, otherwise well - May be worse at night + cause disrupted sleep

Answer 1105

- Raised ALP on bloods - Plain XR followed by MRI + bone scan, ?PET scan + bone biopsy - CT chest for lung mets + bone marrow sampling to exclude involvement

Answer 1106

- XR = destruction + variable periosteal new bone formation - Periosteal reaction leads to classic "sunburst" appearance - Ewing sarcoma often shows substantial soft tissue mass

Answer 1107

- Combo chemo before surgery (amputation avoided if possible) - Radio used in Ewing sarcoma for local disease, esp. if surgical resection is impossible or incomplete (e.g. pelvis or axial skeleton)

Answer 1108

- Malignant tumour of retinal cells which can lead to severe visual impairment

Answer 1109

- Retinoblastoma susceptibility gene on chromosome 13 = AD but incomplete penetrance > offer genetic screening - All bilateral tumours are hereditary, 20% of unilateral are

Answer 1110

- White pupillary reflex noted to replace the normal red reflex or a squint - May have decreased visual acuity + nystagmus - Most present within 3y

Answer 1111

- Screened for in NIPE - MRI + Examination under anaesthetic - Biopsy is avoided + treatment based on ophthalmological findings

Answer 1112

- Significant risk of second malignancy (especially sarcoma) amongst survivors of hereditary retinoblastoma

Answer 1113

- Cure cancer + preserve vision - Chemo, particularly if bilateral to shrink tumours > local laser treatment to retina - Radiotherapy or enucleation of eye (removal) if advanced - Most cured but many visually impaired

Answer 1114

- Mostly hepatoblastoma or hepatocellular carcinoma | - Primary liver tumours in neonates = haemangioma

Answer 1115

- Abdominal distension or mass are common | - Pain + jaundice rare

Answer 1116

- Elevated serum alpha fetoprotein in nearly all cases | - USS/CT/MRI to visualise the tumour + extent of disease

Answer 1117

- Chemo, surgery or liver transplant if inoperable | - Majority of hepatoblastoma can be cured but prognosis worse for hepatocellular

Answer 1118

- Benign (sacrococcygeal region) or malignant (gonads) | - Primitive germ cells which migrate from yolk sac endoderm to form gonads in the embryo

Answer 1119

- Serum markers = alpha fetoprotein + beta hCG raised + useful in monitoring - Very sensitive to chemo with good outcome at most sites

Answer 1120

- Abnormal proliferation of histiocytes - Classified as disorder of dendritic (antigen presenting) cells but as sometimes aggressive + responds to chemo it's dealt with oncology

Answer 1121

- Bone lesions (any age with pain, swelling or even #) - Diabetes insipidus (may be associated with skull disease with proptosis + hypothalamic infiltration) - Systemic

Answer 1122

- Most aggressive form - Infancy with seborrhoeic rash + soft tissue involvement of gums, ears, lungs, liver, spleen, LN + bone marrow - May cause recurrent otitis media/mastoiditis

Answer 1123

- XR + full skeletal survey to identify multiple lesions - Birbeck (tennis-racket shaped) granules on electron microscopy - Bone lesions need biopsy - Diabetes insipidus = long-term desmopressin - Systemic responds to chemo

Answer 1124

- Characteristic lytic lesion with well-defined border, often skull

Answer 1125

- Persistent proteinuria is significant + should be quantified by measuring the urine protein/creatinine ratio in an early morning sample - Protein should not exceed <20mg/mmol of creatinine

Answer 1126

- Transient (febrile illness, after exercise = no investigation) - Nephrotic syndrome - HTN - Tubular proteinuria - Increased glomerular perfusion pressure - Reduced renal mass

Answer 1127

- Basement membrane in the glomerulus becomes highly permeable to protein, allowing proteins to leak from blood into the urine - 2–5y

Answer 1128

- Heavy proteinuria (>1g/m^2/24h) - Hypoalbuminaemia (<25g/L) - Oedema

Answer 1129

- Steroid sensitive nephrotic syndrome (minimal change disease) - Steroid-resistant nephrotic syndrome - Congenital nephrotic syndrome

Answer 1130

- Most common cause in children with no underlying pathology - NSAIDs, Hodgkin's lymphoma, infectious mononucleosis - M>F, commoner in Asian children than Caucasians, do not progress to renal failure

Answer 1131

- 1–10y - No macroscopic haematuria - Normal BP, complement levels, renal function - Often precipitated by resp infections - 1/3 resolve, 1/3 infrequent relapses, 1/3 frequent relapses

Answer 1132

- Focal segmental glomerulosclerosis - Membranoproliferative glomerulonephritis - Membranous nephropathy

Answer 1133

- Most common, familial or idiopathic - Injury to podocytes that alters permeability of the glomeruli - May progress to ESRF, some respond to cytotoxic meds

Answer 1134

- Immune complex depositions in glomerulus + thickened basement membrane - Commoner in older children, haematuria + low complement levels

Answer 1135

- Immunologically mediated disease of glomerular basement membrane - Associated with hep B, may precede SLE, most remit spontaneously in 5y

Answer 1136

- First 3m of life, rare, high mortality - Recessive inheritance with increased incidence in Finnish (UK = consanguinity) - Albuminuria so severe may need unilateral nephrectomy then dialysis for renal failure until renal transplant

Answer 1137

- Frothy urine (significant proteinuria) - Generalised oedema (pitting + gravitational), can be periorbital (esp on waking) - May have scrotal, vulval, leg + ankle oedema too - Pallor, breathlessness (pleural effusions) + abdo distension (ascites)

Answer 1138

- Urinalysis (proteinuria + microscopic haematuria) - Urine MC&S (infection) - Renal function (U+Es, creatinine, albumin, urinary Na+ concentration) - Lipid profile - Systemic disease screen - Antistreptolysin O or anti-DNAse B titres + throat swab - Renal biopsy for histology if no steroid response

Answer 1139

i) Deranged (hyperlipidaemia, hypercholesterolaemia) ii) FBC, CRP/ESR, complement (C3/4) levels, autoimmune screen, hep B/C screen, malaria if abroad iii) Minimal change disease shows normal glomeruli on light microscopy but fusion of podocytes + effacement of foot processes on electron

Answer 1140

- Hypovolaemia as fluid leaks from intravascular to interstitial space - Thrombosis due to loss of antithrombin III - Infection due to leakage of immunoglobulins, weakening the immune system + exacerbated by Tx with steroids

Answer 1141

i) PO prednisolone 60mg/m^2 for 4w then 40mg/m^2 on alternate days for 4w, median time for protein free urine is 11d ii) Cyclophosphamide ± ciclosporin

Answer 1142

- Strict fluid balance with restriction, no added salt - Tx hypovolaemia if present but albumin infusion is not routine - Diuretics if very oedematous + no evidence of hypovolaemia - Prophylactic PO penicillin V until oedema-free - PCV vaccine

Answer 1143

- Acute nephritis is inflammation within the nephrons of the kidneys - This leads to reduction in kidney function, macroscopic haematuria + proteinuria

Answer 1144

- Post-streptococcal glomerulonephritis - IgA nephropathy (Berger's disease) - Vasculitis (HSP, SLE, Wegener's, polyarteritis nodosa) - Goodpasture's syndrome - Familial nephritis (Alport's syndrome)

Answer 1145

- Nephritis after group A beta-haemolytic strep pyogenes illness (tonsillitis) - Immune complexes made up of streptococcal antigens, antibodies + complement proteins get stuck in glomeruli > inflammation

Answer 1146

- IgA deposits in the nephrons of the kidney causes inflammation - Teenagers/young adults, related to HSP

Answer 1147

- Fever, weight loss, skin rash, arthropathy + epistaxis - Adolescent girls, more common in Asians + Afro-Caribbeans - Renal arteriography for presence of aneurysms - Steroids, plasma exchange + IV cyclophosphamide

Answer 1148

- Anti-glomerular basement membrane antibodies against type 4 collagen, also causes pulmonary haemorrhage

Answer 1149

- X-linked recessive - ESRF by early adult - Associated with nerve deafness + ocular defects - Mother may have haematuria

Answer 1150

- Haematuria (often macroscopic) + proteinuria of varying degree - Impaired GFR (rising creatinine), decreased urine output + volume overload - Salt + water retention > HTN (?seizures) + oedema (eyes)

Answer 1151

- Urinalysis (haematuria, raised protein), PCR, RBC casts on microscopy - FBC, U+Es (raised urea), creatinine (raised), hyperkalaemic acidosis - C3/4 may be low (post-strep, SLE) - Antistreptolysin O titre (may be raised), throat/skin swabs for strep - Renal biopsy

Answer 1152

- Anti-dsDNA if SLE, ANCA in vasculitides | - IgA deposits + glomerular mesangial proliferation

Answer 1153

- Fluid + electrolyte balance, monitor UO + creatinine - Treat HTN + oedema with antihypertensives ± diuretics - Nephritis usually settles alone, may need steroids

Answer 1154

i) Supportive, mostly full recovery (some have worsening renal function), penicillin if active infection ii) Supportive, immunosuppressants (steroids, cyclophosphamide) can slow progression

Answer 1155

- IgA mediated small vessel vasculitis leading to inflammation affecting the skin, joints, GI tract + kidneys - 3-10y, M>F + peaks during winter, preceded by URTI or gastroenteritis

Answer 1156

- Palpable purpuric rash affecting extensor surfaces of lower limbs + buttocks - Joint pain (knees + ankles, may be swollen + painful, reduced ROM) - Colicky abdo pain (GI haemorrhage > haematemesis + melaena, intussusception) - Renal involvement (IgA nephritis > haematuria + proteinuria)

Answer 1157

- Exclude DDx of non-blanching rash – FBC + blood film (thrombocytopenia, sepsis + leukaemia), CRP, cultures, HSP = afebrile - Urinalysis for proteinuria + haematuria - PCR to quantify proteinuria - Renal biopsy if severe renal issues to determine if Tx

Answer 1158

- Nephrotic syndrome | - BP + serum albumin

Answer 1159

- Supportive = analgesia for arthralgia, inconsistent evidence for steroid use - Often good prognosis, self-limiting but 1/3 recur

Answer 1160

- Thrombosis within small blood vessels throughout the body, usually triggered by a bacterial toxin (shiga)

Answer 1161

- Microangiopathic haemolytic anaemia (due to RBC destruction) - AKI (kidneys fail to excrete waste products like urea) - Thrombocytopenia

Answer 1162

- Mostly E. Coli 0157 producing Shiga toxin, can be Shigella (?Petting zoo) - Use of Abx + antimotility agents to treat gastroenteritis caused by these pathogens can increase risk of HUS

Answer 1163

- Prodrome of bloody diarrhoea - Urine > reduced output, haematuria or dark brown - Abdo pain, lethargy - Oedema, HTN, bruising

Answer 1164

- FBC (anaemia, thrombocytopenia), fragmented blood film - U+Es reveal AKI - Stool culture

Answer 1165

- ABCDE as emergency - Often self-limiting so supportive > refer to paeds renal unit for ?dialysis - Anti-hypertensives, careful fluid balance, blood transfusions - Plasma exchange if severe + not associated with diarrhoea

Answer 1166

- Glomerular = brown urine, deformed red cells, presence of casts, often with proteinuria - Lower urinary tract = red urine, occurs at beginning or end of stream, not accompanied by proteinuria

Answer 1167

- UTI | - Glomerular or non-glomerular

Answer 1168

i) Acute/chronic glomerulonephritis, IgA nephropathy, familial nephritis, post-strep glomerulonephritis, HSP, goodpasture's ii) Wilm's tumour, trauma, stones (esp if FHx), sickle cell disease + other bleeding disorders

Answer 1169

- Urinalysis + urine MC&S - FBC, platelets, clotting + sickle cell screen - U+Es, creatinine, albumin, Ca2+, phosphate - USS kidneys + urinary tract

Answer 1170

- ESR, C3/4 + anti-DNA antibodies - Throat swab + antistreptolysin O/anti-DNAse B titres - Hepatitis B/C screen - Renal biopsy if recurrent haematuria, abnormal renal function/complement levels or significant persistent proteinuria

Answer 1171

- Urethral meatus is abnormally displaced posteriorly on the penis - Meatus displayed anteriorly on top of the penis

Answer 1172

- Ventral urethral meatus - Hooded prepuce - Chordee (ventral or downwards curvature of the penis in more severe forms) - Usually identified during NIPE

Answer 1173

- Do NOT circumcise as foreskin often needed for later reconstructive surgery - Refer to paediatric specialist urologist - Mild cases may not require any treatment - Surgery done <2y to correct position of meatus + straighten penis

Answer 1174

- Undescended testes, arrested along its normal path of descent - Prems, SGA + LBW, FHx, maternal smoking in pregnancy

Answer 1175

- Testes develop in abdo + gradually migrate down through inguinal canal + into the scrotum (usually completes prior to birth) - Longer the testes take to descend, less likely will happen spontaneously

Answer 1176

- Higher risk of torsion, infertility + cancer

Answer 1177

- Retractile (normal variant in prepubescent boys) - Palpable - Impalpable

Answer 1178

- Testis can be manipulated into bottom of scrotum without tension but subsequently retracts into inguinal region (pulled by cremaster muscle) - Usually present later as hard to notice on NIPE, eventually testes should permanently reside in scrotum (follow-up to check)

Answer 1179

- Testis palpated in groin but cannot be manipulated into scrotum - Sometimes ectopic so lie outside the normal line of descent + may be found in perineum or femoral triangle

Answer 1180

- No testis felt on detailed examination | - May be in the inguinal canal, intra-abdominal or absent

Answer 1181

- Genital exam = warm room + hands, relaxed child, try "milk" testes into scrotum - USS in bilateral impalpable testes to verify internal pelvic organs - Hormonal for bilateral impalpable testes to confirm presence of testicular tissue (record rise in serum testosterone in response to IM hCG) - Laparoscopy = Ix of choice for impalpable

Answer 1182

- If unilateral monitor as most newborns descend - Wait 3m then refer to paeds urologist so they're seen by 6m - If bilateral needs urgent senior review within 24h

Answer 1183

- Surgical placement of testis in scrotum (orchidopexy = before or around 1y) - May need testosterone at age 10 to start puberty if absent altogether, ?prosthesis

Answer 1184

- Fertility = optimises spermatogenesis as testis need to be below body temp - Malignancy = massive risk of seminoma in undescended testes - Cosmesis, psychological + avoid torsion

Answer 1185

- Twisting of the testis + spermatic cord resulting in testicular ischaemia - Common in adolescents + neonatal but can happen at any age

Answer 1186

- Tender, red, painful testicle which may be swollen + retracted upwards - Loss of cremasteric reflex - Elevation of testis does not ease pain (differentiates epididymitis) - Acute abdo pain (lower abdo or scrotal), N+V

Answer 1187

- Torsion of testicular appendage (hydatid) - Remnant of Mullerian duct, can rapidly enlarge prior to puberty due to gonadotropins - 'Blue dot sign'

Answer 1188

- Doppler USS = decreased blood flow | - Surgical exploration unless torsion can be excluded

Answer 1189

- Emergency surgical intervention > needs operating to untort within 6h - If testicle is dead > orchidectomy

Answer 1190

- Abnormal dilatation of the testicular veins - L sided due to angle of L testicular vein entering the L renal vein - 'Bag of worms', dragging or aching sensation, associated with subfertility

Answer 1191

- Confirm with USS + Doppler studies | - Conservative unless pain

Answer 1192

- Accumulation of fluid within the tunica vaginalis - Communicating = patency of processus vaginalis > peritoneal fluid draining into the scrotum (newborn males, often resolves within first few months) - Non-communicating = excess fluid production within the tunica vaginalis

Answer 1193

- Soft, non-tender swelling of hemi-scrotum - Swelling is confined to scrotum + you can get 'above' the mass on examination - Transilluminates with a pen torch

Answer 1194

- USS to confirm | - Repair if not resolved by 2y

Answer 1195

- Almost always indirect + due to patent processus vaginalis | - More common in boys + prematures infants

Answer 1196

- Intermittent swelling in groin/scrotum on crying or straining - Unable to get 'above' it on examination, often is reducible - If strangulated may have N+V, severe pain

Answer 1197

- Surgical repair to avoid risk of strangulation (bowel obstruction + perforation)

Answer 1198

- Growth of bacteria within the urinary tract (>10^5 single organism/ml) - Upper tract infection involves the kidneys (pyelonephritis) + associated with fever, loin pain/tenderness - Lower tract infection involves bladder (cystitis) + low-grade fever with urinary Sx

Answer 1199

- Septicaemia - Poor urine flow - Non-E. Coli - Failure to respond

Answer 1200

- #1 = E. coli, often from bowel contamination - Proteus (M>F, predisposes to formation of phosphate stones in urine) - Pseudomonas (may indicates structural abnormality)

Answer 1201

- Can become resistant to penicillin by producing beta-lactamase (ESBL E. Coli) which breakdown the beta lactam part of Abx making it ineffective

Answer 1202

- Incomplete bladder emptying - Vesico-ureteric reflux - Structural abnormality (horseshoe kidney, ureteric strictures) - Inadequate toilet hygiene

Answer 1203

i) Non-specific = fever, irritable, D+V, prolonged neonatal jaundice, failure to thrive, septicaemia, febrile convulsions (>6m) ii) Loin/abdo (suprapubic) pain, fever (± rigors), febrile convulsions, frequency, dysuria, haematuria, recurrent enuresis, offensive urine

Answer 1204

- Urinalysis for nitrites, leukocytes esterase - Urine sample MC&S = collection pads (babies), MSU clean catch, suprapubic aspiration from bladder under USS worse case

Answer 1205

- USS within 6w if 1st UTI + <6m but responds well to Tx within 48h or during illness if recurrent or atypical bacteria

Answer 1206

- Recurrent kidney infections can cause renal scarring predisposing to HTN, chronic renal failure + even pregnancy complications later in life

Answer 1207

- Good fluid intake, analgesia - Wipe front>back - Regular voiding + ensure complete bladder emptying

Answer 1208

- Admission if <3m, systemically unwell or significant risk factors - ALL children <3m + fever get immediate IV cefuroxime + full septic screen (blood cultures, FBC, CRP lactate, LP etc)

Answer 1209

i) ?Admission for IV, if not PO co-amoxiclav for 7–10d ii) 3d PO trimethoprim, nitrofurantoin, amoxicillin or cephalosporin with follow-up if still unwell after 24-48h iii) Meropenem

Answer 1210

- ≥2 UTIs with ≥1 with systemic Sx (or ≥3 without) - USS within 6w in all children with recurrent UTIs - DMSA (dimercaptosuccinic acid) scan (renal scarring 4-6m) - Micturating cystourethrogram (<6m) if FHx of vesico-ureteric reflux, dilatation of ureter on USS, poor urinary flow (catheterise + inject contrast into bladder)

Answer 1211

- Ureters displaced laterally + enter directly into the bladder, rather than at an angle with a shortened or absent intramural course so urine has a tendency to flow from the bladder back into the ureters

Answer 1212

- MCUG - Avoid constipation or excessively full bladder - Prophylactic Abx - ?Surgical input from paediatric urology

Answer 1213

- Renal agenesis - Multicystic dysplastic kidney - Polycystic kidney disease - Pelvic/horseshoe kidney - Posterior urethral valves - Prune-belly syndrome

Answer 1214

- Absence of both kidneys > severe oligohydramnios + hence foetal compression from reduced foetal urine excretion > Potter syndrome (fatal) - Low-set ears, beaked nose, prominent epicanthic folds + downward slant to eyes

Answer 1215

- Pulmonary hypoplasia > respiratory failure | - Limb deformities such as severe talipes

Answer 1216

- Non-functioning structure with large fluid-filled cysts with no renal tissue or connection with bladder - Failure of union of ureteric bud with nephrogenic mesenchyme

Answer 1217

- Half involuted by 2y + nephrectomy only indicated if very large or HTN - No urine production so if bilateral > Potter syndrome

Answer 1218

- Some renal function remained in polycystic kidney disease - AD = HTN, haematuria in childhood with renal failure in adulthood - AR = defect on chromosome 6 that encodes fibrocystin, protein for normal renal tubule development

Answer 1219

- Antenatal USS or with abdo masses or renal failure - Neonates may develop Potter syndrome secondary to oligohydramnios - Often liver involvement with portal + interlobular fibrosis

Answer 1220

- Abnormal caudal migration when the lower poles are fused in the midline - Abnormal position can predispose to infection or obstruction to urinary outflow

Answer 1221

- Tissue at proximal end of urethra causes obstruction to urinary outflow, M>F - Back pressure into bladder, ureters + up to kidneys > hydronephrosis - Also prevents complete bladder emptying > risk of UTI

Answer 1222

- Oligohydramnios + potentially pulmonary hypoplasia | - Risk of dysplastic kidneys, at its worse if bilateral could lead to potter syndrome

Answer 1223

- Absent musculature leading to large bladder + Dilated ureters (megacystis-megaureters) + cryptorchidism

Answer 1224

- Antenatal Dx + start prophylactic Abx to prevent UTI - Bilateral hydronephrosis and/or dilated lower urinary tract in a male - Unilateral hydronephrosis in male or any anomaly in female

Answer 1225

- Bilateral seen in bladder neck obstruction or posterior urethral valves - USS within 48h of birth to exclude posterior urethral valves – Abnormal = MCUG + surgery if required (ablation during cystoscopy) – Normal = stop Abx, repeat USS after 2-3m

Answer 1226

- Unilateral seen in pelviureteric or vesicoureteric junction obstruction - Abnormal = further investigations - Normal = stop Abx, repeat USS after 2-3m

Answer 1227

- Inability to retract foreskin > physiological at birth (ballooning on urination) - Can be retracted but need adequate analgesia

Answer 1228

- Whitish scarring on foreskin <5y - Due to localised skin disease balanitis xerotica obliterans (BXO), can also involves glans penis + can cause urethral meatal stenosis - Circumcision

Answer 1229

- Posthitis = inflammation of foreskin - Balanitis = inflammation of the glans penis - Single attack of redness, sometimes with purulent discharge - Responds well to warm baths + broad spectrum Abx but recurrent = circumcision

Answer 1230

- Helpful to reduce risk of urinary tract bacterial colonisation in boys with upper urinary tract anomalies that are complicated by recurrent UTIs

Answer 1231

- Spectrum of potentially reversible, reduction in renal function - Rapid rise in creatinine + development of oliguria (<0.5ml/kg/h)

Answer 1232

- Pre-renal (most common cause in children) - Renal - Post-renal

Answer 1233

- Hypovolaemia = nephrotic syndrome, haemorrhage, sepsis, burns - Circulatory failure

Answer 1234

- Vascular = HUS, vasculitis, embolus) - Glomerular = glomerulonephritis - Interstitial = interstitial nephritis, pyelonephritis - Tubular = acute tubular necrosis

Answer 1235

- Obstruction = congenital like posterior urethral valve or acquired like blocked urinary catheter

Answer 1236

- FBC, U+Es (high urea), high creatinine, USS to identify if obstruction - Can have hyperkalaemia, hyperphosphataemia + metabolic acidosis

Answer 1237

- Maintain strict fluid balance (IV fluids if hypovolaemic, restrict if overload) - If failure of conservative Mx, severe electrolyte disturbances or acidosis then ?dialysis

Answer 1238

- Structural malformations (congenital dysplastic kidney) - Glomerulonephritis - Hereditary nephropathies - Systemic diseases

Answer 1239

- Failure to thrive, anorexia + vomiting - HTN, acute-on-chronic renal failure, anaemia - Bony deformities from renal osteodystrophy - Incidental proteinuria, polydipsia + polyuria

Answer 1240

- Monitor growth - FBC = anaemia due to reduced EPO - U+Es + electrolytes (Ca2+ low, phosphate high)

Answer 1241

- Diet + NG or gastrostomy feeding may be needed for normal growth - Phosphate restriction + activated vitamin D to prevent renal osteodystrophy - May need recombinant growth hormone - Recombinant erythropoietin to prevent anaemia - Dialysis + transplantation if in ESRF (GFR <15ml/min/1.73m^2)

Answer 1242

- Generalised reabsorptive disorder of renal tubular transport in the PCT resulting in... – Type 2 (proximal) renal tubular acidosis – Polydipsia, polyuria, aminoaciduria + glycosuria – Osteomalacia/rickets

Answer 1243

- Usually secondary to inborn errors of metabolism – Cystinosis (AR > intracellular accumulation of cysteine, most common) – Wilson's disease, galactosaemia, glycogen storage disorders

Answer 1244

- Responsible for transporting oxygen around the body in RBCs - HbF = 2 alpha + 2 gamma subunits - HbA = 2 alpha + 2 beta subunits

Answer 1245

- HbF has greater affinity to oxygen than adult so oxygen binds more easily + is more reluctant to let go = crucial for oxygen to transport from maternal to foetal Hb - HbF production decreases from 32w with HbA + HbA2 production increasing

Answer 1246

- At birth to compensate for low oxygen concentration in the foetus - By 6m of age very little HbF produced so HbA predominates

Answer 1247

- Hb level below the normal range - Neonate = <14g/dL - 1–12m = <10g/dL - 1–12y = <11g/dL

Answer 1248

- Increased red cell production - Increased red cell destruction (haemolysis) - Blood loss (uncommon in paeds like Meckel's, vWD, foetomaternal bleeding)

Answer 1249

- Ineffective erythropoiesis (Fe, folate deficiency, CKD) - Red cell aplasia - Normal reticulocytes, abnormal MCV in nutrient deficiencies

Answer 1250

- G6PD deficiency, haemoglobinopathies, hereditary spherocytosis - Raised reticulocytes, abnormal appearance on blood films, +ve direct antiglobulin test if immune cause

Answer 1251

- Characterised by reduced red cell lifespan due to increased red cell destruction in the circulation (intravascular haemolysis) or liver/spleen (extravascular) - 120d

Answer 1252

- Red cell survival reduced significantly but bone marrow production increases too, anaemia = bone marrow cannot compensate - Neonates = immune haemolytic anaemias, children = instrinsic abnormalities (G6PD)

Answer 1253

- Anaemia - Hepatosplenomegaly - Unconjugated bilirubinaemia - Excess urinary urobilinogen

Answer 1254

- Reduced RBC production = congenital red cell aplasia + congenital parvovirus infection > red cell aplasia - Haemolytic anaemia = immune (haemolytic disease of newborn) or hereditary (G6PD etc)

Answer 1255

- Inadequate erythropoietin production - Reduced red cell lifespan - Frequent blood sampling whilst in hospital - Iron + folic acid deficiency after 2-3m.

Answer 1256

- #1 cause of childhood anaemia - Bone marrow requires iron to produce Hb - Iron mainly absorbed in the duodenum + jejunum + requires acid from the stomach to keep iron in soluble ferrous (Fe2+) form, if acid drops it changes to insoluble ferric (Fe3+) form

Answer 1257

- Inadequate intake = common as infants require additional iron for increasing blood volume - Malabsorption = Crohn's + coeliac - Blood loss = common in menstruating females

Answer 1258

- Breast milk, formula, cow's milk or weaning (cereals) | - Markedly increased when eaten with food rich in vitamin C + inhibited by tannin in tea

Answer 1259

- Generic = fatigue, SOB, headaches, dizziness, palpitations | - Young infants feed more slowly + children tire easily

Answer 1260

- Generic = pallor (inc. conjunctival), tachycardia, tachypnoea - Pica = consumption of non-food materials - Koilonychia, angular cheilitis, brittle hair + nails

Answer 1261

- FBC = low Hb, microcytic (low MCV + MCH), normal reticulocytes - Blood film = hypochromic microcytic red cells - Iron studies: – Low = serum ferritin, iron + transferrin saturation – High = total iron binding capacity

Answer 1262

i) Proportion of transferrin bound to iron | ii) Total space on transferrin for Fe to bind

Answer 1263

- Diet = eat red meat (beef, lamb), oily fish, green veg (broccoli, spinach), dried fruit (raisins) - Children may be given polysaccharide iron complex (Niferex) - Ferrous sulfate or fumarate often used

Answer 1264

- Constipation - Black coloured stools - Nausea

Answer 1265

- Reduced RBC production > anaemia | - Congenital (Diamond-Blackfan anaemia), transient erythroblastopenia of childhood, parvovirus B19

Answer 1266

- Rare disease with gene mutations in ribosomal protein genes - Most present 2-3m with anaemia Sx, may have congenital abnormalities (short stature, abnormal thumbs) - PO steroids, 1/12 RBC transfusions, steroids fail = stem cell transplant

Answer 1267

- Often triggered by viral infections, same features as congenital - Recovery usually occurs within weeks, no gene mutations or congenital abnormalities

Answer 1268

- Only in children with inherited haemolytic anaemias, not in healthy children

Answer 1269

- Low reticulocytes, low Hb, normal bilirubin - RBCs appear normal on blood film - Negative Coombs (direct antiglobulin) test - Absent red cell precursors on bone marrow examination

Answer 1270

- Bone marrow failure syndrome | - Reduction/absence of all three main lineages in the bone marrow leading to peripheral pancytopenia

Answer 1271

- Idiopathic - Acquired = viruses (hepatitis), drugs (Chemo, Abx), toxins - Inherited = Fanconi anaemia, Shwachman-Diamond syndrome

Answer 1272

- Anaemia due to reduced red cell numbers - Infection due to reduced white cell numbers (especially neutrophils) - Bruising + bleeding due to thrombocytopenia

Answer 1273

- AR condition - Majority have congenital anomalies = short stature, abnormal radii + thumbs, café-au-lait spots, neuro issues - Bone marrow transplant as high risk of death from failure or acute leukaemia

Answer 1274

- AR - Bone marrow failure, pancreatic exocrine failure + skeletal abnormalities - Risk of transformation to acute leukaemia

Answer 1275

- FBC + blood film = normocytic anaemia, pancytopenia | - Hypoplastic bone marrow

Answer 1276

- Supportive (fluids, Abx, address underlying) | - Bone marrow transplant if severe

Answer 1277

- Rate-limiting enzyme in the pentose phosphate pathway + is essential for preventing oxidative damage to RBCs by reactive oxygen species - X-linked recessive (males), more common in Mediterranean, Middle Eastern + African background

Answer 1278

- Neonatal jaundice (often within 3d) - Anaemia - Intermittent jaundice (esp. to triggers) - Splenomegaly + gallstones

Answer 1279

- Normal blood picture between episodes - Blood film = Heinz bodies (blobs of denatured Hb "inclusions" seen in RBCs), may show bite + blister cells - Diagnosis by G6PD enzyme assay

Answer 1280

- During haemolytic crisis may be misleadingly elevated due to higher enzyme concentration in reticulocytes so do repeat assay after 3m

Answer 1281

- Acute haemolysis (mostly intravascular) - Fever, malaise, dark urine (as Hb + urobilinogen) - Precipitated by infection #1, certain meds (ciprofloxacin, sulfasalazine, sulfonylureas, antimalarial quinine), fava (broad) beans

Answer 1282

- Parent education for signs of acute haemolysis (jaundice, pallor, dark urine) + list of precipitants to avoid

Answer 1283

- AD mutation in genes for proteins of the red cell membrane | - Most common inherited haemolytic anaemia in Northern Europeans

Answer 1284

- Red cell loses part of its membrane when it passes through the spleen + the reduction in surface:volume causes it to become spheroidal, making them fragile + easily destroyed in the spleen - Hereditary elliptocytosis with ellipse RBCs

Answer 1285

- Jaundice - Anaemia - Splenomegaly + gallstones - Due to increased bilirubin excretion

Answer 1286

- FBC = increased mean corpuscular haemoglobin concentration (MCHC) - Raised reticulocytes (rapid turnover of RBCs) - Blood film = spherocytes (no central pallor) - Coombs test to exclude autoimmune haemolytic anaemia (associated with spherocytes)

Answer 1287

- Aplastic crisis due to parvovirus B19 infection - Increased anaemia, haemolysis + jaundice without normal response from bone marrow to create new RBCs (no reticulocyte response) - Supportive, may require transfusions

Answer 1288

- PO folic acid if mild - Splenectomy if poor growth or severe anaemia (often deferred until 7y as risk of splenectomy sepsis, will need HiB, men C, S. pneumoniae vaccines + lifelong PO penicillin)

Answer 1289

- Abnormal variant (haemoglobin S) which polymerises to be an abnormal sickle (crescent) shape + so more fragile + easily destroyed > haemolytic anaemia - Amino acid substitution (glutamine > valine)

Answer 1290

- Reduced lifespan so can get trapped in small vessels leading to vaso-occlusion > ischaemia - Can be exacerbated by dehydration, cold, stress, infections + hypoxia, associated with raised haematocrit

Answer 1291

- Autosomal recessive - Abnormal gene for beta-globin on C11 - Heterozygous = sickle-cell trait - Homozygous = sickle cell disease (HbSS)

Answer 1292

- More common in Africa, India + the Middle East (areas traditionally affected by malaria) - Sickle-cell trait reduces the severity of malaria making them more likely to survive + pass the genes on

Answer 1293

- 6m as HbF unaffected so manifests as HbF reduces - All have moderate anaemia with detectable jaundice from chronic haemolysis - All have marked increase in infection susceptibility, esp. pneumococci + H. influenzae due to hyposplenism secondary to chronic sickling + microinfarction of the spleen

Answer 1294

- Vaso-occlusive (painful) crises - Bones of limbs + spine common (may lead to avascular necrosis e.g. femoral heads) - Pain, fever + often those of triggering infection - Acute chest syndrome

Answer 1295

- Fever or resp Sx (CP, tachypnoea) with new infiltrates on CXR - Can be due to infection (pneumonia, bronchiolitis) or non-infective (pulmonary vaso-occlusion or fat emboli) - Emergency > Abx or antivirals, blood transfusions for anaemia, may need NIV or intubation

Answer 1296

- 'Hand-foot syndrome' common leading to dactylitis | - Priapism in men > urological emergency, aspiration

Answer 1297

- Haemolytic crises (sometimes with associated infection) - Aplastic crises (parvovirus causes cessation of RBC production) - Sequestration crises

Answer 1298

- Sudden hepatic or splenic enlargement, abdo pain + circulatory collapse from accumulation of sickled cells blocking blood flow - Supportive = blood transfusions, fluid resus, splenectomy can prevent this + used in recurrent crises as can lead to splenic infarction > increased infection susceptibility

Answer 1299

- Prenatal Dx via CVS - Detection via Guthrie test - FBC = low Hb, high reticulocytes - Blood film = sickled RBCs - Dx with Hb electrophoresis showing high amounts of HbSS + absent HbA

Answer 1300

- Short stature + delayed puberty - Stroke + cognitive issues - Pulmonary HTN - Chronic renal failure - Psychosocial issues

Answer 1301

- Fully immunised (PCV, HiB, meningococcus) - Avoid vaso-occlusive crisis triggers - PO phenoxymethylpenicillin prophylaxis - PO folic acid as increased demands due to haemolysis - Hydroxycarbamide + hydroxyurea can stimulate HbF production to prevent painful crises - Bone marrow transplant curative + offered if failed response

Answer 1302

- Cold, dehydration, excessive exercise, stress + hypoxia | - Dress warmly, plenty of drinks

Answer 1303

- PO or IV analgesia according to need (?opiates) - IV fluids, oxygen - Infection treated with Abx, blood transfusion for severe anaemia - Exchange transfusion if severe (e.g. neuro complications)

Answer 1304

- AR disorder arising from ≥1 gene defects, resulting in a reduced rate of production of ≥1 globin chains - RBCs more fragile + breakdown easily - Alpha = defect in alpha globin chains - Beta = defect in beta globin chains

Answer 1305

- Alpha thalassaemia trait - Often asymptomatic with mild or absent anaemia - Red cells hypochromic + microcytic

Answer 1306

- Mild-moderate hypochromic microcytic anaemia + splenomegaly - Few patients are transfusion dependent

Answer 1307

- Alpha thalassaemia major - Death in utero with foetal hydrops from foetal anaemia - Occurs in families of South-East Asian origin, homozygotes

Answer 1308

- Indian subcontinent, Mediterranean + Middle East - Beta thalassaemia minor (1 abnormal + 1 normal gene) - Beta thalassaemia intermedia (2 defective or 1 defective + 1 deletion genes) - Beta thalassaemia major (homozygous for deletion genes)

Answer 1309

- Carriers of abnormally functioning beta-globin gene - Mild microcytic + hypochromic anaemia (monitor) - Differentiate from Fe deficiency by measuring serum ferritin (normal)

Answer 1310

- More severe microcytic anaemia, beta-globin mutation allow a small amount of HbA and/or a large amount of HbF to be produced - Monitor + occasional blood transfusion

Answer 1311

- Most severe form with no HbA as abnormal beta globin gene | - Severe transfusion-dependent anaemia from 3-6m, jaundice, failure to thrive

Answer 1312

- Extramedullary haematopoiesis can occur if no regular blood transfusions - Leads to hepatosplenomegaly + bone marrow expansion leading to maxillary overgrowth + skull bossing

Answer 1313

- FBC + blood film = hypochromic microcytic anaemia - HbA2 raised in beta-thalassaemia trait, HbA2 + HbF raised in major - Serum ferritin to differ between Fe anaemia + check iron overload - Hb electrophoresis for Dx - DNA testing via CVS before birth

Answer 1314

- Repeated + Regular blood transfusions can cause chronic iron overload - Heart (cardiomyopathy, heart failure) - Liver (cirrhosis) - Pancreas (diabetes) - Pituitary (delayed growth + sexual maturation) - Skin (hyperpigmentation) - Arthritis + joint pain

Answer 1315

- Lifelong monthly blood transfusions for the most severe cases - Desferrioxamine for iron chelation to prevent overload - Bone marrow transplant can be curative, reserved for beta thalassaemia major

Answer 1316

- Haemophilia A = factor VIII deficiency - Haemophilia B = factor IX deficiency - X-linked recessive (M>F), A>B, girls with Turner's increased risk as 1 X

Answer 1317

- Neonates = intracranial haemorrhage, haematomas + cord bleeding - Recurrent spontaneous bleeds, often large, into joints (haemoarthrosis) + muscles (cause arthropathy if not prevented) - Easy bruising, haematomas, mouth/gum bleeding, haematuria

Answer 1318

- Around 1y as children become more mobile | - NAI

Answer 1319

- FBC + blood film - Prothrombin time (factors 2, 5, 7, 10, extrinsic) normal - Activated partial thromboplastin time (intrinsic) = greatly increased - Severity dependent on amount of FVIII:C or FIX:C levels - Prenatal Dx with CVS

Answer 1320

- IV infusion of recombinant FVIII or FIX concentrate if active bleeding (or prophylactic to reduce arthropathy risk) - Desmopressin stimulates vWF release for bleeding/prevention, TXA - AVOID aspirin, NSAIDs + IM injections (can worsen bleeding)

Answer 1321

- Formation of antibodies against the clotting factor can render it ineffective

Answer 1322

- Facilitates platelet adhesion to damaged endothelium | - Acts as carrier protein for FVIII:C, protecting it from inactivation + clearance

Answer 1323

- Deficiency of vWF leading to defective platelet plug formation + deficient FVIII:C > most common inherited bleeding disorder - AD, type 1 most common + mildest - Severity increases with type 2, type 3 has very low or no vWF (AR)

Answer 1324

- Bruising, excessive + prolonged bleeding after surgery, mucosal bleeding (epistaxis, menorrhagia, bleeding gums) - In contrast to haemophilia = spontaneous soft tissue bleeding like large haematomas uncommon

Answer 1325

- FBC (normal platelets) + blood film, biochemical screen including renal + liver function - Prolonged bleeding time - Prothrombin time normal - APTT = elevated or normal - vWF antigen decreased, vWF multimers variable

Answer 1326

- Pressure applied if active bleeding - Minimise bleeding with desmopressin or TXA - Severe = plasma derived FVIII concentrate or vWF infusion - AVOID aspirin, NSAIDs + IM injections as can worsen bleeding

Answer 1327

- Nasal or s/c | - Release of vWF + FVIII concentrate

Answer 1328

Secondary to - Haemorrhagic disease of the newborn due to vitamin K deficiency - Liver disease as location of clotting factor production - ITP + DIC

Answer 1329

- Essential for factors 2, 7, 9 + 10 (1972) production + naturally occurring anticoagulants like protein C + S - Prolonged prothrombin time so increased bleeding - All neonates get vitamin K IM to facilitate coagulation

Answer 1330

- Inadequate intake = neonates, long-term chronic illness - Malabsorption = coeliac, cystic fibrosis - Vitamin K antagonists = warfarin

Answer 1331

- Coagulation pathway activation leads to diffuse fibrin deposits in the microvasculature - This leads to consumption of coagulation factors + platelets with secondary activation of fibrinolysis > increased bleeding risk

Answer 1332

- Severe sepsis or shock due to circulatory collapse (meningococcal septicaemia, extensive tissue damage or burns), trauma, malignancy

Answer 1333

- Bruising, purpura + haemorrhage | - Bleeding from unrelated site (epistaxis, venepuncture, GI, resp)

Answer 1334

- Thrombocytopenia - Prolonged prothrombin, APTT + bleeding time - Low fibrinogen + raised fibrinogen degradation products

Answer 1335

- Treat underlying | - Supportive = fresh frozen plasma + platelets

Answer 1336

- Commonest cause of thrombocytopenia in childhood | - T2 hypersensitivity reaction with destruction of circulating platelets by anti-platelet IgGs

Answer 1337

- 1-2w post viral - Petechiae or purpuric rash (petechiae are pin-prick, purpura are larger) - Can cause epistaxis, other mucosal bleeding + bruising

Answer 1338

- FBC shows marked thrombocytopenia | - May have compensatory megakaryocyte increase in bone marrow

Answer 1339

- Often acute + self-limiting | - Severe bleeding may need prednisolone, IVIg, blood/platelet transfusions

Answer 1340

- Inherited thrombophilias = protein C + S deficiencies, antithrombin deficiency, factor V leiden - Acquired = catheter related (during Ix), DIC, hypernatraemia, polycythaemia (secondary to CHD or placental insufficiency in utero), malignancy, SLE

Answer 1341

- Inherited thrombophilias present with venous thrombosis in 2nd or 3rd decade - Thrombosis of cerebral vessels = stroke - Purpura fulminans = widespread haemorrhage + purpura into skin in neonatal period

Answer 1342

- Screen for inherited thrombophilia if = any child with signs of thrombosis, FHx of neonatal purpura fulminans or clotting disorder - Assays for protein C + S - PCR for factor V Leiden + prothrombin gene mutation

Answer 1343

- Warfarin or DOACs

Answer 1344

- Hypersensitivity reaction initiated by specific immunoglobulins - Food allergy, eczema, allergic rhinitis, asthma, urticaria, insect sting, drugs, latex + anaphylaxis

Answer 1345

i) Objectively reproducible symptoms/signs following a defined stimulus at a dose tolerated by a normal person ii) Personal/familial tendency to produce IgE in response to ordinary exposures to allergens (triad = eczema, asthma + rhinitis)

Answer 1346

- Hygiene hypothesis = high microbial exposure means less allergy - Skin sensitisation theory = regular exposure via food + preventing exposure via breaks in skin before food means less allergies

Answer 1347

- Inhalant = house-dust mite, plant pollens, moulds in asthma - Ingestant = nuts, cow's milk, eggs, seafood

Answer 1348

- IgE mediated (some food allergies, allergic asthma) | - Non-IgE mediated (coeliac disease, some food allergies)

Answer 1349

- Early phase within minutes where release of histamines from mast cells > urticaria, angioedema, sneezing + bronchospasm with a late response 4-6h later with nasal congestion, cough + bronchospasm of lower airway - Urticaria can be trigger if in sun or if child gets hot/cold

Answer 1350

- Typically, delayed onset of Sx + a more varied clinical course

Answer 1351

- Type 1 = IgE trigger mast cells + basophils to release histamines + cytokines - Type 2 = IgG/M bind to cell-surface antigens which is a host cell but activates immune system as considers foreign > cytotoxic - Type 3 = immune complex mediated with activation of complement/IgG - Type 4 = T-cell mediated delayed type hypersensitivity

Answer 1352

- T1 = acute anaphylaxis, hayfever - T2 = autoimmune disease, haemolytic disease of newborn, transfusion reaction - T3 = SLE, RA, HSP, post-strep glomerulonephritis - T4 = TB, contact dermatitis

Answer 1353

- Skin prick test = test a patch + compare the size of wheals with controls - Patch test = useful in allergic contact dermatitis where place a patch of allergens + assess the skins' reaction - RAST test = measures total + allergen specific IgE in blood - Food challenge test = slowly increase exposure to allergen + measure response

Answer 1354

- Affects children <3y where there's hypersensitivity to protein in cow's milk, most outgrow by age 3, IgE and non-IgE types - More common in formula fed babies + those with personal or FHx of atopy

Answer 1355

- Lactose is a sugar | - Explosive watery stools, abdo distension, flatulence + audible bowel sounds

Answer 1356

- Apparent when weaned from breast > formula milk or food with milk - GI = bloating + wind, abdo pain, D+V, failure to thrive - Allergic = urticaria, cough, wheeze, sneezing, itching - Anaphylaxis + angioedema is rare

Answer 1357

- Not an allergic reaction (mild-mod delayed reactions) so does not involve immune system - Same GI Sx but not allergic features - Infants may be able to tolerate some cow's milk just with Sx, same Mx

Answer 1358

- IgE mediated = skin prick tests + RAST for cow's milk protein - Gold standard if doubt = elimination diet under dietician supervision

Answer 1359

- Breastfeeding mothers should avoid dairy - Replace formula with extensive hydrolysed formula - Amino acid-based formula if severe or no response to eHF - Food challenge may be performed in hospital setting

Answer 1360

- Proteins broken down so they no longer trigger an immune response

Answer 1361

- Antihistamines or IM adrenaline (EpiPen) if severe reactions

Answer 1362

- Infants (milk, egg, peanut), older (peanut, fish + shellfish) - IgE mediated = urticaria, angioedema, wheeze - Non-IgE = D+V, failure to thrive, abdo pain - Non-immunological hypersensitivity reaction to food

Answer 1363

- T1 hypersensitivity reaction that is IgE mediated, can be non-atopic where environmental allergens cause allergic inflammatory response in nasal mucosa - Tree pollen or grass (hayfever), house dust mites + pets, mould

Answer 1364

- Seasonal (hayfever) - Perennial (year-round) e.g. house dust mite allergy - Occupational

Answer 1365

- Runny, blocked + itchy nose, sneezing - Red + swollen eyes - Post-nasal drip may cause cough - Associated with personal or FHx of atopy

Answer 1366

- Skin prick testing for pollen, animals + house dust mite

Answer 1367

- Avoid trigger, hoover + Change pillows regularly, good ventilation - PO antihistamines taken prior to exposure to reduce allergic Sx - Nasal corticosteroid sprays like mometasone to suppress local Sx - PO Montelukast or specific immunotherapy if poor control

Answer 1368

- Non-sedating = cetirizine, loratadine - Sedating = chlorphenamine (Piriton) + promethazine - Nasal may be good option for rapid onset Sx in response to trigger

Answer 1369

- Severe T1 hypersensitivity reaction where IgE stimulates mast cells to rapidly release histamine + other pro-inflammatory chemicals (mast cell degranulation)

Answer 1370

- Compromise in ABC = life-threatening medical emergency | - Foods (peanuts), insect stings, drugs, latex

Answer 1371

- Rapid onset allergic Sx = urticaria, itching, angioedema with swelling around lips + eyes - Anaphylaxis Sx = SOB, wheeze, stridor (larynx swelling), tachycardia, light-headed + collapse

Answer 1372

- Serum mast cell tryptase within 6h of event = mast cell degranulation

Answer 1373

- Airway = secure - Breathing = oxygen, salbutamol to help wheeze, monitor SpO2, RR - Circulation = IV fluid bolus with collapse, monitor BP, ECG - Disability = lie pt flat to improve cerebral perfusion - Exposure = look for flushing, urticaria + angioedema

Answer 1374

- IM adrenaline (EpiPen if community), repeat after 5m if necessary - Antihistamines like chlorphenamine or cetirizine - Steroids like IV hydrocortisone

Answer 1375

- Primary (uncommon) = intrinsic defect in the immune system - Secondary = due to another disease or treatment (HIV, nephrotic syndrome) - Severe, prolonged, unusual or recurrent (SPUR) infections

Answer 1376

- T-cell defects - B-cell defects - Combined B- + T-cell defects - Neutrophil defect - Leucocyte function defect - Complement defects

Answer 1377

- Severe/unusual viral + fungal infections + failure to thrive in first 2m - DiGeorge syndrome - HIV - Duncan syndrome (X-linked lymphoproliferative disease) - Ataxic telangiectasia - Wiskott-Aldrich

Answer 1378

i) Inability to respond normally to EBV so succumb to initial infection or develop secondary lymphoma ii) Defect in DNA repair, increased risk of lymphoma > cerebellar ataxia + Developmental delay iii) Triad with thrombocytopenia + eczema (X-linked)

Answer 1379

- Present beyond infancy as passively acquired maternal antibodies, severe bacterial infections, esp. (lower) RTIs. - Selective IgA deficiency (#1) - X-linked (Bruton) agammaglobulinaemia - Common variable immune deficiency

Answer 1380

i) Detected on screening for coeliac, normal IgM/G, IgA present in mucosal secretions ii) Abnormal tyrosine kinase gene (essential for B cell maturation), all Ig classes affected iii) B-cell deficiency, high risk of autoimmune + malignancies, later onset than ii)

Answer 1381

- Severe combined immunodeficiency = group of inherited disorders of profound defective cellular + humoral immunity - Hyper IgM syndrome = B cells produce IgM but prevented from IgG/A

Answer 1382

- Recurrent bacterial infections - Chronic granulomatous disease = X-linked recessive, defect in phagocytosis as fail to produce superoxide after ingestion

Answer 1383

- Delayed separation of umbilical cord, wound healing, chronic skin ulcers - Leucocyte adhesion deficiency = deficiency of neutrophil surface adhesion molecules so inability to migrate to sites of infection

Answer 1384

- Recurrent bacterial infections (meningococcal, HiB, pneumococcus), SLE-like illness - Hereditary angioedema (measure C4 levels) - Mannose-binding lectin deficiency

Answer 1385

- FBC (WCC, lymphocytes, neutrophils) - Blood film - Complement - Immunoglobulins

Answer 1386

- T-cell + neutrophil = co-trimoxazole for PCP, fluconazole for fungal - B-cell = azithromycin for recurrent bacterial infections

Answer 1387

- Prompt, appropriate + longer Abx courses - Screen for end-organ disease (CT scan) - Ig replacement therapy if antibody deficient - Bone marrow transplantation for SCID, chronic granulomatous disease

Answer 1388

- Child = failure to meet expectations (disabled, wrong sex), born after forced or commercial sex work - Parent = MH issues, substance abuse, LD, young - Family = stepparents, domestic abuse, multiple or closely spaced births - Environment = low socioeconomic status

Answer 1389

- Emotional = persistent emotional mistreatment of a child resulting in adverse effects of a child's emotional development - Sexual = forcing a child to take part in sexual activities - Neglect = persistent failure to meet a child's basic physical + psychological needs

Answer 1390

- PV/PR bleed or itching - PV discharge - STIs - Bruising - Oversexualised child - Dilated anus

Answer 1391

- Inadequate food, drink, emotional support, clothing, shelter - Inadequate supervision or access to medical care = severe + persistent infections (scabies, lice), failure to engage with child health promotion, failure to attend follow-ups

Answer 1392

- Too many injuries, wrong site, unusual shape or pattern - Delay in presenting (old injuries), multiple A&E visits - No Hx, Hx inconsistent with injuries or that changes

Answer 1393

- Shins, knees, elbows, toddlers can bump their heads | - Abdo, genitalia, insides of arms/legs, behind neck or other soft bits, young babies that cannot roll

Answer 1394

- # = metaphyseal, multiple # at different healing stages, posterior rib # in babies v. specific, radial, humeral, femoral - Bruising, burns, scalds, failure to thrive - Torn frenulum (forcing bottle into mouth)

Answer 1395

- FBC, clotting screen, bone profile, radiology - Developmental + social services assessment - If suspected > hospital admission + can break confidentiality - Fundoscopy for retinal haemorrhages

Answer 1396

- Shaken baby syndrome = retinal haemorrhages, subdural haematoma + encephalopathy

Answer 1397

- Child act 2004 allows to speak to child without parents' consent, safeguards children

Answer 1398

- None - Microcephaly - Short palpebral fissures, hypoplastic upper lip, small eyes, smooth philtrum - LDs, poor growth + cardiac malformations - Can have alcohol withdrawal Sx a birth = irritable, hypotonic, tremors

Answer 1399

- Med emergency as can cause meningitis, sinus thrombosis - External ear may protrude forwards, severe otalgia (classically behind), fever - Swelling, erythema + tenderness over mastoid process - Abx ± mastoidectomy

Answer 1400

- Persistence of thyroglossal duct - Midline, smooth + moves when they stick their tongue out - USS shows thin walled + anechoic (echoic suggests cyst infection)

Answer 1401

- Not in midline, tend to appear along border of sternocleidomastoid - 75% originate from second branchial cleft, often unilateral + smooth

Answer 1402

- Found on lateral aspect of eye + produces sebaceous material - Can communicate intracranially causing meningitis - USS shows heterogeneous + have variable amounts of calcium + fat

Answer 1403

- Soft lesion in posterior triangle that transilluminates (seen in Turner's)