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Flashcards in Paediatrics (finished) Deck (956):
1

Define 'developmental delay'

Slow acquisition of all skills (global delay) or a particular field or area of skill (specific delay)

2

Define 'learning difficulty'

In relation to school age children - can be cognitive, physical, both, or relate to specific functional skills

3

Define 'impairment'

Loss/abnormality of physiological function or anatomical structure

4

Define 'disability'

Any restriction or lack of ability due to an impairment

5

Define 'disadvantage'

Results from a disability - limits or prevents the fulfilment of a normal role and is situationally specific

6

How does a Wilm's tumour present on examination?

Renal mass which is sometimes visible and does not crosss the midline

7

How does a neuroblastoma present on examination?

Irregular, firm mass which may cross the midline - child is usually very unwell

8

How do faecal masses present on examination?

Mobile, non-tender, indentable

9

How does intussusception present on examination?

Acutely unwell child, may have a palpable mass (most often in R upper quadrant)

10

When do abnormalities of motor development present and why?

Usually 3 months-2 years when acquisition of motor skills is occurring most rapidly

11

What are the causes of abnormal motor development?

-Central motor deficit (e.g. cerebral palsy) -Congenital myopathy/primary muscle disease -Spinal cord lesions e.g. spina bifida -Global developmental delay

12

When is asymmetry of motor skills abnormal and why?

In the first year (may suggest underlying hemiplegia) - because hand dominance isn't acquired until 1-2 years or later

13

What is the most common cause of death/serious injury in children?

Road traffic accidents

14

How should you treat dog bites?

Raise and immobilise limb Review regularly Prophylactic antibiotics if high risk of infection (coamoxiclav for paseurella cover) Tetanus booster Wound irrigation and delayed closure

15

What internal injuries do you need to be careful about in the chest?

Pneumothorax and haemopericardium

16

What internal injuries do you need to worry about in the abdomen and how should you watch for these?

Ruptured spleen, liver, kidney or bowel Observe, USS, XR, CT

17

How should you treat mild head injuries?

Discharge home with written advice

18

How should you treat potentially severe head injuries?

Monitor to avoid secondary damage

19

How should you treat severe head injuries?

Resuscitate, CT and neurosurgery referral

20

How should you manage burns and scalds?

Use a surface area chart Analgesia, fluids, cling film Smoke inhalation should be treated in hospital Face, mouth, hands/joints and perineum need a special unit

21

Why do children scald at lower temperatures than adults?

Because their skin is thinner

22

What are the features of a deep/full thickness burn?

Down to and including the dermis. White or charred skin, painless

23

What are the features of a partial thickness burn?

Damage to the dermis, pink/mottled skin

24

How should you manage drowning?

Unconscious children with fixed dilated pupils should be resuscitated until temperature is near normal. Give mouth to mouth and chest compressions and warm.

25

When causes the onset of acne?

Androgenic stimulation of the sebaceous glands and increased sebum excretion rate. Obstruction to the flow of sebum in a sebaceous follicle initiates it.

26

What are the different lesions seen in acne?

Open comedones - blackheads Closed comedones - Whiteheads Progresses to papules, pustules, nodules and cysts

27

Where is acne mainly seen?

Face, back, chest and shoulders

28

Which acne lesions tend to cause scarring?

Nodules/cysts

29

What can exacerbate acne?

Menstruation and emotional stress

30

When does acne usually resolve by?

Late teens

31

How should acne be managed?

Keratolytic agent e.g. benzoyl peroxide, to encourage the skin to peel Sunshine in moderation Topical antibiotics Topical retinoids

32

How should severe acne be managed?

Oral antibiotic therapy with tetracyclines if >12 (may discolour teeth if younger) Or erythromycin Oral retinoid (isotretinoin) if severe, teenage, and unresponsive to other treatments

33

What level of tachypnoea is expected in severe acute asthma?

>50 bpm in 2-5 year olds >30 bpm in those 5 or older

34

What level of tachycardia is expected in severe acute asthma?

>130 bpm in 2-5 year olds >120 bpm in those older than 5

35

Which is a better guide to severity in acute asthma, tachycardia or tachypnoea?

Tachycardia

36

What is the best guide to severity in acute asthma?

Use of accessory muscles of breathing and recession

37

What blood pressure phenomenon is expected in acute asthma?

A marked pulsus paradoxus - difference in systolic pressure in inspiration and expiration. Indicates a moderate to severe asthma attack.

38

Which feature indicates a severe asthma attack?

Breathlessness interfering with talking

39

What are the features of a life threatening asthma attack?

Cyanosis, fatigue and drowsiness. May be accompanied by silent chest on auscultation Poor respiratory effort. Peak flow

40

What should you monitor in an acute asthma attack?

Arterial O2 sats with pulse oximetry PEFR if school aged

41

What saturation level indicates a life threatening asthma attack?

42

What are the criteria for hospital admission in acute asthma?

If, after high dose inhaled bronchodilator therapy: -Not responded adequately (persisting breathlessness, tachypnoea, exhausted) -Child appears exhausted -Still have a marked reduction in their predicted (or usual) peak flow rate) -Have a reduced oxygen saturation (

43

When should you do a chest X ray in acute asthma?

If abnormal signs: asymmetry of chest signs suggesting pneumothorax, or lobar collapse, or signs of severe infection

44

When are blood gases indicated in acute asthma?

Life threatening or refractory cases

45

What are the principles of treatment of acute asthma?

Calm and reassure High dose inhaled B2 bronchodilator Oxygen if evidence of desaturation Short course of oral prednisolone Antibiotics if suspected bacterial infection

46

How should inhaled B2 bronchodilator therapy be given in an acute asthma attack?

If severe repeat every 20-30 minutes Moderate to severe asthma: 10 puffs via pMDI and large volume spacer Severe and worse may need a nebuliser driven by high flow O2

47

When should steroids be given in acute asthma and why?

In moderate or severe attacks. Short course of 2-5 days oral prednisolone expedites recovery.

48

If a child with an acute asthma attack doesn't respond to B2 bronchodilators and oxygen what should you do?

IV aminophylline or salbutamol

49

How should IV aminophylline be given in an acute asthma attack and what are the risks?

Loading dose over 20 mins then continuous infusion If already on oral theophylline, omit the loading dose. Seizures, severe vomiting and fatal arrhythmias may follow rapid infusion

50

What do you need to monitor with the IV therapies for acute asthma?

ECG and check electrolytes

51

What treatments should be considered in life threatening asthma, aside from those recommended for severe asthma?

Increasing evidence for IV magnesium sulphate. Artificial ventilation if needed

52

What should you do on discharge of a child who had an acute asthma attack?

Review medications and how to use them with the family Educate about what to do in an acute attack Measuring peak flow at home and helps to identify gradual deterioration Can give oral steroids to keep at home with instructions when to start

53

How should you manage a moderate asthma attack?

Short acting B2 agonist via spacer, 2-4 puffs, increasing by 2 puffs every 2 minutes to 10 puffs if required Consider oral prednisolone Reassess within 1 hour

54

How should you manage a severe asthma attack?

Oxygen via facemask/nasal prongs to achieve normal O2 sats Short acting B2 agonist: 10 puffs via spacer or nebulised Oral prednisolone/IV hydrocortisone Nebulised ipratropium bromide if poor response Repeat bronchodilator every 20-30 mins if needed

55

How should you manage a life threatening asthma attack?

Nebulised B2 agonist plus ipratropium bromide IV hydrocortisone Discuss with senior clinician/PICU/paeds Repeat bronchodilators every 20-30 minutes If not responding transfer to HDU or PICU and consider CXR/blood gases, intravenous salbutamol or aminophylline (caution if already receiving theophylline), consider bolus of IV magnesium sulphate

56

How do you continue to manage an acute asthma attack if the child is responding to the initial therapy?

Continue bronchodilators every 1-4 hours prn Discharge when stable on 4 hour treatment Continue oral prednisolone for ≤3 days

57

Why is epiglottitis a life threatening emergency?

Risk of respiratory obstruction

58

What is the causative organism of epiglottitis?

Haemophilus influenza B

59

In what age group is epiglottitis most common?

1-6 years

60

What are the features of epiglottitis?

High fever in ill, toxic looking child Intensely painful throat preventing speaking or swallowing Saliva drooling down chin Soft inspiration strider and rapidly increasing respiratory difficulty over hours Child sitting immobile, upright with an open mouth to optimise the airway

61

What must you NOT DO in a child with suspected epiglottitis?

Lie the child down/exmaine the throat with a spatula/perform a lateral neck X ray - can precipitate total airway obstruction and death

62

How should you manage epiglottitis?

Get help - senior anaesthetist, paeds, ENT Transfer to ITU/anaesthetic room Watch closely Intubate under controlled conditions with GA; urgent tracheostomy is life saving if ou can't Take blood for culture once airway is secure Start IV antibiotics e.g. cefuroxime Tracheal tube can be removed after 24 hours Antibiotics for 305 days Most recover in 2-3 days Rifampicin prophylaxis to household contacts

63

What are the causes of acute nephritis?

Post infection e.g. streptococcus Vasculitis IgA nephropathy Mesangiocapillary glomerulonephritis Anti glomerular basement membrane disease (Goodpastures)

64

What is acute nephritis?

Where increased glomerular cellularity restricts glomerular blood flow and therefore filtration is decreased

65

What are the features of acute nephritis?

Decreased urine output and volume overload Hypertension, which may cause seizures Odessa, characteristically around the eyes Haematuria and proteinuria

66

How should acute nephritis be managed?

Careful water and electrolyte balance Use of diuretics where necessary

67

What is rapidly progressive glomerulonephritis?

A rare complication of nephritis with rapid decline in renal function.

68

Which cause of nephritis is unlikely to proceed to rapidly progressive glomerulonephritis?

Post streoptococcal

69

What is the potential complication of rapidly progressive glomerulonephritis?

If untreated irreversible renal failure may occur over weeks

70

How does IgA nephropathy typically present?

With macroscopic haematuria in association with URTIs

71

What is Alport syndrome?

Commonest familial nephritis. Usually X linked recessive Progresses to end stage renal failure by early adult life in males Associated with nerve deafness and ocular defects Mother may have haematuria

72

What is ADHD?

Disorder where the child is undoubtedly overactive in most situations and has impaired attention span, concentration, and distractibility

73

How common is ADHD?

10-50:1000, 3:1 boys:girls

74

What is the underlying problem in ADHD?

Dysfunction of brain neurone circuits that rely on dopamine as a neurotransmitter and which control self monitoring and self regulation

75

How should ADHD be managed?

Promote educational and behavioural progress with advice to parents and teachers: build concentration skills, self esteem, encourage quiet self occupation and moderate extreme behaviour. Clear rules and expectations. Consistent use of rewards Consequences to discourage unacceptable behaviour Medication (methylphenidate, dexamphetamine, or for a non stimulant atomoxetine) Yearly trial off medication Diet is controversial but avoid caffeine

76

What are the features of ADHD?

Unable to sustain attention/persist with tasks Can't control impulses Fidgety Butting into other people's conversations and play Generally disorganised Poorly regulated, excessive activity Short tempers + form poor relationships Worst in familiar/uninteresting situations Difficulty taking turns and sharing May drift into antisocial activities Socially disinhibited Poor performance in school and low self esteem

77

What are the features of adult-type coarctation of the aorta?

Asymptomatic Hypertension in the right arm Ejection systolic murmur at the upper sternal edge Collaterals heard with continuous murmur at the back Radio femoral delay due to blood bypassing the obstruction via collateral vessels in the chest wall

78

What investigations should you do in adult-type coarctation of the aorta and what would you find?

CXR: rib notching due to development of large collateral intercostal arteries running under the ribs posteriorly to bypass the obstruction, '3 sign' with visible notch in the descending aorta at the site of coarctation ECG: LV hypertrophy - deep S wave in V2 and tall R wave in V6 (>45mm total) Echo

79

How should adult type coarctation of the aorta be managed?

Assess severity with echo When it becomes severe (gradually over many years) a stent can be inserted via a cardiac catheter Sometimes surgical repair is needed

80

What kind of antibodies is atopic rhinitis associated with?

IgE antibodies to common inhalant allergens

81

How common is allergic rhinitis?

Up to 20% children

82

What are the features of allergic rhinitis?

Coryza and conjunctivitis Cough-variant rhinitis has a post nasal drip Chronically blocked nose causing sleep disturbance and impaired daytime behaviour/concentration Predominant eye symptoms

83

Which other conditions is allergic rhinitis associated with?

Eczema, sinusitis, adenoidal hypertrophy, asthma

84

How can allergic rhinitis be treated?

Second generation non sedating antihistamines Topical corticosteroid nasal or eye preparations Cromoglycate eye drops Leukotriene receptor antagonists e.g. montelukast Nasal decongestants (no more than 7-10 days due to rebound effect) Allergen immunotherapy (sublingual or subcut, limited by anaphylaxis risk) Systemic corticosteroids shouldn't be used due to risk of adverse effects

85

Define hypersensitivity

Objectively reproducible symptoms or signs following exposure to a defined stimulus (e.g. food, drug, pollen) at a dose which is tolerated by normal people

86

Define allergy

A hypersensitivity reaction initiated by specific immunological mechanisms. Can be IgE mediated (e.g. peanut allergy) or non-IgE mediated (e.g. coeliac disease)

87

Define atopy

A personal and/or familial tendency to produce IgE antibodies in response to ordinary exposures to potential allergens, usually proteins. Strongly associated with asthma, allergic rhinitis and conjunctivitis, eczema, and food allergy

88

Define anaphylaxis

A serious allergic reaction that is rapid in onset and may cause death. Mostly IgE mediated with significant respiratory or cardiac compromise

89

What are the features of anaphylaxis?

Acute Airway: swelling, hoarseness, stridor Breathing: tachypnoea, wheeze, cyanosis, sats

90

How should you manage anaphylaxis?

ABCDE approach Call for help Put patient in supine position with legs raised IM adrenaline If available: establish airway, high flow oxygen, IV fluid (20ml/kg crystalloids), chlorpheniramine (IM or slow IV), hydrocortisone (IM or slow IV) Monitor: pulse oximetry, ECG, blood pressure

91

What dose of adrenaline should you give for anaphylaxis?

1:1000 (IM unless experienced with IV) 12y: 500 micrograms (0.5ml)

92

What are the side effects of valproate?

Weight gain, hair loss, rare idiosyncratic liver failure

93

What are the side effects of carbamazepine and oxcarbazepine?

Rash, neutropenia, hyponatraemia, ataxia, liver enzyme induction, can interfere with other medications

94

What are the side effects of vigabatrin?

Restriction of visual fields (has limited its use), sedation

95

What are the side effects of lamotrigine?

Rash

96

What are the side effects of ethosuximide?

Nausea and vomiting

97

What are the side effects of topiramate?

Drowsiness, withdrawal, weight loss

98

What are the side effects of gabapentin?

Insomnia

99

What are the side effects of levetiracetam?

Sedation - rare

100

What are the side effects of benzodiazepines?

Sedation, tolerance, to effect, increased secretions

101

What is the first line treatment for tonic clonic seizures?

Valproate, carbamazepine

102

What is the second line treatment for tonic clonic seizures?

Lamotrigine, topiramate

103

What is the first line treatment for absence seizures?

Valproate, ethosuximide

104

What is the second line treatment for absence seizures?

Lamotrigine

105

What is the first line treatment for myoclonic seizures?

Valproate

106

What is the second line treatment for myoclonic seizures?

Lamotrigine

107

What is the first line treatment for focal seizures?

carbamazepine, valproate. Lamotrigine has been shown to be most effective but needs slow titration.

108

What is the second line treatment for focal seizures?

Topiramate, levetiracetam, oxcarbazepine, gabapentin, tiagabine, vigabatrin

109

What are the features of specific anxiety in children and how should it be managed?

Phobia - fear of a specific object or situation that is excessive and handicapping and can't be dealt with by reassurance. Lots of children have 'irrational fears' that do not handicap ordinary life. Some persist into adulthood. If ordinary life is affected treat with CBT and graded exposure to the feared event (usually successful).

110

How does general anxiety present in children?

Indirectly - uncommon for children to complain directly of anxiety. Often manifests as physical complaints first: nausea, headache, pain. May take the form of health worries and the child asking for reassurance that they aren't going to die. Some may develop coping strategies that appear manipulative in an attempt to gain control.

111

How should general anxiety be managed in children?

If the condition follows a recognisable precipitant e.g. parental illness, and parents can be directed to provide comfort and support, then prognosis is good If arises insidiously, needs specialist mental health referral

112

What is aortic stenosis and what is is often associated with?

Aortic valve leaflets partly fused together restricting exit from the LV. May be 1-3 aortic leaflets and may not be an isolated lesion. Often associated with mitral valve stenosis and coarctation of the aorta.

113

What investigations should you do in aortic stenosis?

Echo CXR - normal or prominent LV with post kenotic dilatation of the ascending aorta ECG: may be LV hypertrophy

114

How does aortic stenosis present?

Most with an asymptomatic murmur

115

How doe severe aortic stenosis present?

Reduced exercise tolerance Chest pain on exertion Syncope In neonates who also have duct dependent systemic circulation: severe heart failure leading to shock

116

What are the physical signs of aortic stenosis?

Small volume, slow rising pulses Carotid thrill Ejection systolic murmur maximal at the upper R sternal edge radiating to the neck Delayed and soft aortic 2nd sound Apical ejection click

117

How should aortic stenosis be managed?

Regular clinical and echo assessment to help decide when to intervene Children with symptoms on exercise or who have a high resting pressure gradient (>64mmHg) across the aortic valve have balloon valvotomy (generally safe in older children, more dangerous in neonates) Most neonates and children with significant AS needing treatment in the first few years will eventually need valve replacement

118

What are the ECG changes in aortic stenosis?

Deep S wave in V2 and tall R wave in V2 (>48mm total) indicates LV hypertrophy. Downing T wave (V6) suggests LV strain and severe aortic stenosis

119

What are the features of 'apparent life threatening events'?

Infants, most common

120

What are the common causes of apparent life threatening events?

Infections (RSV, pertussis) Seizures Gastro-oesophageal reflux (1/3) Upper airway obstruction: natural or imposed No cause identified

121

What are the uncommon causes of apparent life threatening events?

Cardiac arrhythmia Breath holding Anaemia Heavy wrapping/heat stress Central hypoventilation syndrome Cyanotic spells from intrapulmonary shunting

122

How should apparent life threatening events be managed?

Detailed history Thorough examination - look for problems with baby and with caregiving Admit and investigate (often needs overnight multi channel monitoring)

123

What investigations should you do in apparent life threatening events?

ASAP: blood glucose and blood gas O2 sats monitoring Cardiorespiratory monitoring EEG Oesophageal pH Barium swallow FBC, U+E, LFTs, lactate Urine (collect and freeze first sample): metabolic studies, microscopy and culture, toxicology EEG: for QTc, conducting pathway abnormality CXR Lumbar puncture

124

How do most cases of apparent life threatening events end?

Baby recovers rapidly and all investigations are normal Teach parents resuscitation Follow up

125

What are the etiological factors contributing to bronchial inflammation in asthma?

Genetic predisposition Atopy Environmental triggers: URTIs, allergens, smoking, cold air, exercise, emotional upset or anxiety, chemical irritants e.g. paint, aerosols

126

What are the features of bronchial inflammation in asthma?

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

127

What follows from the bronchial inflammation in asthma?

Bronchial hyper responsiveness - exaggerated 'twitchiness' to inhaled stimuli Airway narrowing - reversible airflow obstruction Symptoms: wheeze, cough, breathlessness, chest tightness

128

What are the key features of asthma?

Symptoms worse at night and in the early morning Symptoms that have triggers e.g. exercise, pets, dust, cold air, emotions, laughter Interval symptoms i.e. symptoms between acute exacerbations Personal or family history of atopic disease Positive response to asthma therapy

129

What features might you find on chest examination in long standing asthma?

Hyperinflation of the chest Generalised polyphonic expiratory wheeze Prolonged expiratory phase Onset in early childhood can cause Harrison sulci - depression at the base of the thorax associated with the muscular insertion of the diaphragm

130

What extra features should you look for in asthma (associated)?

Eczema Examine nasal mucosa for allergic rhinitis Plot growth - should be normal unless asthma is severe Presence of wet cough/sputum production/finger clubbing/poor growth suggests chronic infection e.g. CF or bronchiectasis

131

What investigations might you do in asthma?

Skin prick testing Chest X ray (to rule out other things) Peak expiratory flow rate (useful if uncertainty and >5; should be variable in asthma both day to day and diurnally) Measure response to treatment with PEFR (should increase by >10-15% before/after bronchodilator)

132

What is the first step in the BTS asthma ladder?

Mild intermittent asthma Inhaled short acting B2 agonist as required Infants and young children: consider inhaled ipratropium bromide

133

What is the second step in the BTS asthma ladder?

Regular preventer therapy - requires ≥3 B2 agonist inhalations/week Add inhaled steroid Start at dose appropriate to severity of disease

134

What is the third step in the BTS asthma ladder?

Poorly controlled on conventional doses of inhaled steroids - 'add on therapy' 5 years or older: add inhaled LABA, if good response continue, if benefit but inadequate go to step 4, if no response stop LABA and try leukotriene receptor antagonist/theophyllines

135

What is the fourth step in the BTS asthma ladder?

Persistent poor control. 5y or older: increase inhaled steroid to max recommended dose, if not responding go to step 5 and consult respiratory paediatrician If under 5y refer to respiratory paediatrician

136

What is the fifth step in the BTS asthma ladder?

Continuous frequent use of oral steroids. Daily oral steroids, lowest dose for adequate control. Refer to specialist as may needed immunosuppressant or immunomodulation or psychological help

137

What is the aim of long term asthma management?

To allow the child to lead as normal a life as possible by controlling symptoms and preventing exacerbations, optimising pulmonary function, while minimising treatment and side effects

138

How long are short acting B2 agonists effective for?

2-4 hours

139

How long are long acting B2 agonists effective for?

About 12 hours

140

What is ipratropium bromide and when is it used in asthma?

Anticholinergic bronchodilators. Sometimes given to young infants when others don't work/in severe acute asthma

141

What is the mechanism of action of corticosteroids in asthma?

Decrease airway inflammation, therefore: Decreased symptoms Decreased exacerbations Decreased bronchial hypersensitivity

142

What are the side effects of inhaled corticosteroids in asthma?

In high doses can have systemic side effects: impaired growth, adrenal suppression, altered bone metabolism

143

What is an example of a leukotriene receptor antagonist?

Montelukast

144

What is an alternative to a leukotriene receptor antagonist in asthma and why isn't it used more often?

Slow release oral theophylline - but lots of side effects e.g. vomiting, insomnia, headaches, low concentration

145

What is an immune therapy that can be used in asthma?

Omalizumab (anti IgE therapy). Injectable monoclonal antibody which acts against IgE, which mediates allergy. Used fro severe atopic asthma

146

Which drugs may help asthma according to some data?

Macrolides

147

What are some non-drug measures to manage asthma?

Complete allergen avoidance Allergen immunotherapy No smoke in the house Psychological help

148

How is exercise induced asthma managed?

Short acting B2 agonist bronchodilator immediately before exercise Some may need a LABA and an inhaled steroid With appropriate treatment, asthma shouldn't restrict exercise

149

What is the aetiology of atopic eczema?

Genetic deficiency of skin barrier function Often a family history Exclusive breastfeeding may delay onset in predisposed children but doesn't seem to impact later incidence

150

When does eczema usually have its onset and when does it resolve?

Worst in 1st year and 75% resolve by age 16

151

How is eczema diagnosed?

Clinical If history suggests particular allergic cause consider: skin prick, radioallergosorbent (RAST) tests to identify food and other allergies, including those which could cause anaphylaxis Exclude immune deficiency if severe, atypical, unusual infections or FTT

152

What are the clinical features of eczema?

Itching (-> scratching, excoriation) Excoriated areas become erythematous, weeping, and crusted Distribution changes with age: infants

153

What are the causes of eczema exacerbations?

Bacterial infection e.g. staph, strep Viral infection e.g. herpes simplex virus Ingestion of allergen e.g. egg Contact with irritant/allergen Environment: heat, humidity Change or reduction in medication Psychological stress Unexplained

154

Why does staph infect eczematous areas so readily?

Inflammation increases the avidity for staph aureus and decreases the expression of antimicrobial peptides. S aureus thrives on atopic skin and releases super antigens which seem to maintain and worsen eczema.

155

Which virus commonly infects eczematous areas and what is the result?

HSV - serious as can spread rapidly to cause eczema herpeticum (vesicular rash)

156

What are the principles of eczema management?

Avoid irritants and precipitants Emollients Topical corticosteroid Immunomodulators Occlusive bandages Antibiotics/antivirals if infected Antihistamine Dietary elimination Psychosocial support

157

What are the side effects of steroid use in eczema?

Skin thinning and systemic side effects, therefore keep use to a minimum, apply thinly, avoid face, mild

158

When are immunomodulators used in eczema and which ones?

Children >2, used in short term when steroids are not working/if risk of adverse steroid effect. Topical tacrolimus or pimecrolimus

159

What can occlusive bandages for eczema be impregnated with?

Zinc, zinc and tar, diluted topical steroids, emollient

160

How is dietary elimination done in eczema?

Commonly egg, peanut, cow's milk. Need to eliminate for 4-6 weeks to see a response. Try if severe and unresponsive eczema.

161

What kind of shunt is atrial septal defect?

Left to right

162

What are the 2 types of atrial septal defect?

Secundum (80%) - a defect in the centre of the atrial septum involving the foramen ovale Partial/primum - defect of the atrioventricular septum characterised by: -Inter arterial communication between the bottom end of the atrial septum and the atrioventricular rvalves -Abnormal atrioventricular valves with a left atrioventricular valve which has 3 leaflets and tends to leak (regurgitant valve)

163

What are the symptoms of atrial septal defect?

Non (commonly) Recurrent chest infection/wheeze Arrhythmias (4th decade onwards)

164

What are the physical signs of atrial septal defect?

Ejection systolic murmur best heard at the upper left sternal edge due to increased flow across the pulmonary valve due to L-R shunt Fixed and widely split 2nd heart sound (often difficult to hear) due to R ventricular stroke volume being equal in inspiration and expiration Partial AVSD: an apical pan systolic murmur from atrioventricular valve regurg

165

What are the CXR features of ASD?

Enlarged heart Enlarged pulmonary arteries Increased pulmonary vascular markings

166

What are the ECG features of secundum ASD?

Partial right bundle branch block is common (But can happen in normal children), R axis deviation due to RV enlargement

167

What are the ECG features of partial AVSD?

Superior QRS axis (mainly negative in AVF), because there is a defect of the middle part of the heart where the AV node is. The displaced node then conducts to the ventricles superiorly - abnormal axis

168

What investigation is the most important in ASD?

Echo, as it delineates the anatomy

169

What is the treatment for secundum ASD?

Cardiac catheterisation Insertion of an occlusion device

170

What is the treatment for partial AVSD?

Surgical correction

171

When is treatment usually done for ASD and why?

Usually at 3-5 years to prevent R heart failure and arrhythmias in later life

172

What is an auditory processing disorder?

A disorder that affects how the brain interprets sound rather than how sound is carried through the ear to the brain

173

What are the 5 main problem areas in auditory processing disorder?

Auditory figure-ground problems - can't pay attention if noise in background Auditory memory problems - difficulty remembering info (immediate or delayed) Auditory discrimination problems - difficulty hearing the difference between similar words/sounds Auditory attention problems - can't stay focused on listening Auditory cohesion problems - higher level listening tasks (drawing inferences from conversations, understanding riddles or verbal maths problems)

174

What are the causes of auditory processing disorders?

Not fully understood May follow a persistent hearing defect e.g. glue ear May be caused by genetic defect (some cases seem to run in families) Can be associated with damage to the brain e.g. trauma, stroke, tumour, meningitis

175

How is auditory processing disorder managed?

No absolute cure Auditory training Reduce background noise at home e.g. carpets Get teachers to wear a microphone and speaker for the child Get others to speak clearly, emphasise the point, face the child when talking, repeat if needed

176

What are the 3 main features of autism spectrum disorder?

Imposition of routines with ritualistic and repetitive behaviour Impaired social interaction Speech and language disorder

177

What are the common comorbidities in autism spectrum disorder?

General learning an attention difficulties (about 2/3) Seizures (about 1/4) often not until adolescence

178

What are the features of routine/ritualistic behaviour in autism spectrum disorder?

On self and others - violent temper tantrums if disrupted Unusual stereotypical movements e.g. hand flapping, tiptoe gait Concrete play Poverty of imagination in play and general activities Peculiar interests and repetitive adherence Restriction in behaviour repertoire

179

What are the features of the impaired social interaction in autism spectrum disorder?

Does not seek comfort, share pleasure, form close relationships Prefers own company, no interest or ability in interacting with peers (play or emotions) Gaze avoidance Lack of joint attention Socially and emotionally inappropriate behaviour Doesn't appreciate that others have thoughts and feelings Lack of appreciation of social cues

180

What are the features of speech and language disorder in autism spectrum disorder?

Delayed development, may be severe Limited use of gestures and facial expressions Formal pedantic language Monotonous voice Impaired comprehension; over literal interpretation of speech Echoes questions, repeats instructions, refers to self as 'you' Can have superficially good expressive speech

181

What is the epidemiology of autism spectrum disorders? When do they present?

3-6/1000 live births More common in boys Presentation usually at 2-4 years when language and social skills would normally rapidly expand

182

What is Asperger's syndrome?

A child with the social impairments of autism spectrum disorder, but at the milder end, and with near-normal speech development

183

What is the prognosis for autism spectrum disorders?

Lifelong consequences for social/communication and learning skills

184

What might help in autism spectrum disorder?

Applied behavioural analysis: tries to modify behaviour but is time consuming, needing 25-30h of therapy per week

185

In which groups is B thalassaemia common?

Indian subcontinent, Mediterranean, Middle East, used to be Greek cypriots but now less common due to genetic counselling

186

What is the main problem in B thalassaemia?

Severe reduction in the production of beta globin, and therefore reduction in HbA

187

What determines the severity of thalassaemia?

The amount of residual HbA and HbF production?

188

What are the 2 main forms of beta thalassaemia disease?

B thal major - most severe form where HbA can't be produced due to abnormal beta globin gene B thal minor - milder and variable severity as beta globin mutations allow a small amount of HbA to be made and/or lots of HbF

189

What are the clinical features of beta thalassaemia?

Severe anaemia which is transfusion dependent from 3-6 months of age Jaundice Failure to thrive/growth failure Extra medullar haemopoiesis (prevented by regular transfusion) - without it develop hepatosplenomegaly and bone marrow expansion, which causes classical facies with maxillary overgrowth and skull bossing

190

What is the management of beta thalassaemia?

Uniformly fatal without lifelong monthly RBC transfusions Aim to maintain Hb at >10g/dl Iron is chelated with submit desferrioxamine or an oral drug (e.g. deferasirox) from 2-3 years One cure is bone marrow transplantation

191

What are the features of chronic iron overload from repeat transfusions?

Cardiac failure Liver cirrhosis Diabetes Infertility Growth failure

192

What is the prognosis in beta thalassaemia?

With good compliance, 90% chance of living to 40s and beyond Poor compliance - high mortality in early adulthood from iron overload

193

When is bone marrow transplant done in beta thalassaemia and what's the outlook?

Only for children with HLA identical sibling 90-95% chance of success but 5% transplant related mortality

194

Describe prenatal diagnosis in beta thalassaemia

If both parents are heterozygous for beta thal, 1 in 4 risk of having an affected child. Prenatal diagnosis is by chorionic villus sampling

195

What is beta thal trait?

Heterozygotes who are usually asymptomatic with hypo chromic microcytic red cells. Anaemia mild or absent.

196

What are the lab features of beta thal trait?

Mild or absent anaemia RBC could increased due to disproportionate reduction in MCH and MCV Raised HbA2 is most important diagnostic feature (usually ~5%) About 1/2 have mild elevation of HbF of 1-3% Serum ferritin is NOT low in beta thal trait unlike in IDA

197

What are the features of bacterial tracheitis?

Similar to severe viral croup but child has a high fever, appears toxic and has rapidly progressive airways obstruction with copious thick airways secretions. Rare but dangerous Caused by staph aureus infection =Pseudomembranous croup

198

How should bacterial tracheitis be treated?

IV antibiotics Intubation and ventilation if required

199

What is benign neonatal myoclonus?

Secure like disorder characterised by myoclonic jerks of the extremities that exclusively occur during sleep. Waking the child should entirely eliminate the symptoms. Early recognition important to avoid diagnostic testing/imaging that is unnecessary. Treatment also not necessary

200

What is biliary atresia?

Progressive disease in which there is destruction or absence of the extra hepatic biliary tree and intrahepatic biliary ducts, leading to chronic liver failure and death without surgical intervention

201

What are the clinical features of biliary atresia?

Babies have normal birthweight but fail to thrive as the disease progresses Usually mildly jaundiced Following passage of meconium, stools are pale and urine is dark Stool colour may fluctuate but pale stools need Ix Hepatomegaly often present Splenomegaly secondary to portal hypertension

202

How should biliary atresia be investigated?

Confirmed at laparotomy by operative cholangiography which fails to outline a normal biliary tree LFTs don't really help Fasting abdo USS shows contracted/absent gallbladder but can also be normal Radioisotope scan with TIBIDA shows good uptake by the liver but no excretion into bowel Liver biopsy - features of extra hepatic biliary obstruction but features may overlap with neonatal hepatitis especially early on

203

How is biliary atresia managed?

Surgical bypass of fibrotic ducts - hepatoportoenterostomy (Kasai procedure). A loop of jejunum is anastomosed to the cut surface of the porta hepatis, facilitating drainage of bile from any remaining patent ductules

204

What is the prognosis for biliary atresia surgery?

If surgery is done within 60 days, 80% of children achieve bile drainage. Success rate diminishes with increasing age. Even where bile drainage is successful, frequently progress to cirrhosis and portal hypertension. If the op is unsuccessful, need to consider liver transplant.

205

What are the complications of surgery for biliary atresia?

Cholangitis, malabsorption of fats and fat soluble vitamins

206

What is cephalhaemoatoma

Haematoma from bleeding below the periosteum which is confined within the margins of the skull sutures

207

What is caput succedaneum?

Bruising and oedema of presenting part of a neonate extending beyond the margins of skull bones, which resolves in a few days

208

What is a chignon in a neonate?

Oedema and bruising from a ventouse delivery

209

How is bruising caused in neonates?

Face - after face presentation Genitalia and buttocks - after breech delivery

210

What are some causes of abrasions in neonates?

To the skin from scalp electrodes From accidental scalpel incision at C section

211

What are the features of subaponeurotic haemorrhage in a neonate?

Very uncommon - diffuse, boggy swelling of scalp. Blood loss may be severe leading to hypovolaemic shock and coagulopathy

212

What causes brachial nerve palsy in a neonate and how does it present?

From traction to brachial plexus nerve roots in breech deliveries or with shoulder dystocia. Upper C5/6 causes Erb's palsy

213

What causes facial nerve palsy in a neonate?

Compression of facial nerve against mother's ischial spine

214

What are three common fractures in neonates?

Clavicle, humerus, femur

215

What causes a clavicle fracture in a neonate and what are the features?

Usually from shoulder dystocia. May have reduced arm movement and a lump of callus over the next few days. Excellent prognosis

216

What causes a humerus or femur fracture in a neonate and what are the features?

Usually mid shaft from breech deliveries or shoulder dystocia/ Presents with deformity, reduced movement, and pain on movement. Heals rapidly with immobilisation

217

What are the common types of bone tumours and which children are more prone to them?

Uncommon before puberty (malignant bone tumours) Osteogenic sarcoma more common than Ewing, but Ewing is more common in younger children Both more common in boys

218

What are the clinical features of bone tumours?

Limbs are most common site Persistent localised bone pain - usually precedes detection of a mass and is an indication for early X ray Mostly otherwise well at diagnosis

219

What are the investigations for bone tumours?

Plain X ray, then MRI then bone scan X ray shows destruction and variable periosteal new bone formation Ewing sarcoma often has substantial soft tissue mass Chest CT to look for lung mets Bone marrow sample to exclude BM involvement

220

How are bone tumours managed?

Combination chemo before surgery Amputation avoided where possible with en bloc resection of tumours and endoprosthetic resection Radiotherapy is also used in Ewing in management of local disease especially when resection in surgery is inadequate/incomplete or impossible e.g. pelvis, axial skeleton

221

What are Worden's 'tasks of mourning'?

Accept the reality of the loss Experience the pain or emotional aspects of the loss Adjust to an environment in which the deceased is missing Relocate the dead person within one's life and find ways to remember the person

222

What are the potential complications of breastfeeding?

Unknown intake Transmission of infection Breast milk jaundice Transmission of drugs Nutrient inadequacies (if >6 months without timely introduction of appropriate solids) Vitamin K deficiency (if not given supplement) Potential transmission of environmental contaminants (nicotine, alcohol, caffeine) Less flexible Emotional upset if difficult/unsuccessful

223

What is akyloglossia and how common is it?

Tongue tie - where the lingual frenulum is unusually short and tight, restricting the tongue's movement

224

Why is tongue tie a problem?

If it prevents the baby feeding properly and causes problems for the mother (sore nipples as the tongue doesn't protect them) Can be divided - simple almost painless procedure. If not done, when older can cause speech difficulties and problems eating certain foods (if corrected when older needs GA and stitches usually)

225

What is the most common age range for bronchiolitis?

1-9 months

226

What are the causes of bronchiolitis?

RSV in 80% Human metapneumovirus Parainfluenza virus Rhinovirus Adenovirus Influenza Mycoplasma pneumoniae Dual RSV + human metapneumovirus = severe RSV

227

What are the clinical features of bronchiolitis?

Coryza symptoms precede a dry cough and increasing breathlessness Feeding difficulty Recurrent apnoea (serious)

228

Who is most at risk from severe bronchiolitis?

Premature infants with broncho-pulmonary dysplasia Underlying lung disease e.g. CF of congenital heart disease

229

What are the characteristic examination findings in bronchiolitis?

Sharp dry cough Tachypnoea Subcostal and intercostal recession Hyperinflation of the chest: prominent sternum, liver displaced downwards Fine end inspiratory crackles High pitched wheeze expiratory>inspiratory Tachycardia Cyanosis or pallor

230

What investigations should you do in bronchiolitis?

PCR of nasopharyngeal secretions for viruses CXR is unnecessary if straightforward Pulse ox Blood gas in severe disease to check for hypercarbia

231

What would a CXR show in bronchiolitis?

Hyperinflation of lungs due to small airways obstruction, air trapping and focal atelectasis Flattening of diaphragm, horizontal ribs and increased hilar bronchial markings

232

Who is bronchiolitis managed?

Supportive Humidified O2 via nasal cannulae Monitor for apnoea Fluids if needed Assisted ventilation if needed Infection control measures as RSV is very contagious

233

Which medications are now shown not to reduce severity or duration of bronchiolitis?

Mists, antibiotics, steroids, nebulised bronchodilators (salbutamol/ipratropium)

234

What is the prognosis for bronchiolitis?

Most recover from the acute infection in 2 weeks but many have recurrent episodes of cough and wheeze

235

What is bronchiolitis obliterans?

Permanent damage to the airways - rare complication after adenovirus bronchiolitis

236

How can bronchiolitis be prevented?

Monoclonal antibody to RSV (palivizumab, monthly IM), reduces # of hospital admissions in high risk preterm infants. Use is limited because of cost and number of injections

237

What are the features of capillary huemangionma and what is the cause?

Stork bites - pink macule on the upper eyelids, mid forehead, nape of the neck. Common and due to distension of dermal capillaries. Those on the eyelids gradually fade over the first year and those on the neck get covered in hair

238

What are the causes of respiratory failure in children?

Respiratory obstruction e.g. foreign body, asthma, croup Respiratory depression e.g. convulsions, poisoning, raised ICP

239

What are the causes of circulatory failure in children?

Fluid loss e.g. blood loss, burns, vomiting Fluid maldistribution e.g. sepsis, anaphylaxis, cardiac failure

240

What are the features of cavernous haemangioma?

Strawberry naves - often not present at birth but can appear in the first month of life and may be multiple. More common in preterm infants. Increases in size until 3-15 months then gradually regresses.

241

How is cavernous haemangioma managed?

No treatment needed unless the lesion interferes with vision or the airway. Treatment, if needed, is with steroids or interferon alpha

242

What are the potential complications of cavernous haemangioma?

Ulceration Haemorrhage Thrombocytopenia with large lesions

243

What is cerebral palsy?

An abnormality of movement and posture, causing activity limitation, attributed to non-progressive disturbances and occurred in the developing infant/foetal brain

244

How common is cerebral palsy?

2 in 1000

245

What are the causes of cerebral palsy?

80% antenatal due to: vascular occlusion, cortical migration disorders, structural maldevelopment of the brain during gestation Some linked to genetic deletions Other antenatal causes: genetic syndromes, congenital infections ~10% due to hypoxic ischaemic injury during delivery ~10% postnatal (up to 2 years; after that it's brain injury not CP) - meningitis, encephalitis, encephalopathy, head trauma, symptomatic hypoglycaemia, hydrocephalus, hyperbilirubinaemia

246

What particular cause of CP are preterm infants vulnerable to?

Periventricular leucomalacia - secondary to ischaemia/severe intraventricular haemorrhage

247

What are the features of cerebral palsy?

Abnormal limb and/or trunk posture and tone in infancy Delayed motor milestones +/- slowing of head growth Feeding difficulties with promoter incoordination, slow feeding, gagging, vomiting Abnormal gait once walking Asymmetric hand function before 12 months of age Primitive reflexes may persist and become obligatory

248

What are the features of spastic cerebral palsy?

90% of CP Damage to upper motor neurone (pyramidal/corticospinal tract) pathway Limb tone persistently increased with brisk deep tendon reflexes and extensor plantar responses Dynamic catch - tone is velocity dependent (faster the muscle is stretched the greater resistance it will have. Clasp knife - tone suddenly yields under pressure Spasticity presents early, even in neonates periods Sometimes initial hypotonia, especially of head and neck

249

What are the 3 main types of spastic cerebral palsy?

Hemiplegia Quadriplegia Diplegia

250

What are the features of hemiplegic spastic cerebral palsy?

Unilateral arm and leg Arm>leg, face spared Presents at 4-12 months Tiptoe walk Medical history may be normal Can come with hemianopia

251

What are the features of quadriplegic spastic cerebral palsy?

All 4 limbs Often severe and trunk involved Opisothonos, poor head control, low central tone Associated with seizures, microcephaly, low IQ

252

What are the features of diplegic spastic cerebral palsy?

All 4 limbs affected but legs > arms Periventricular brain damage

253

What are the features of dyskinetic cerebral palsy?

6% of CP Movements are involuntary, uncontrolled, stereotyped (some) more evidence with active movement/stress. Tone variable. Primitive reflexes dominate. May be chorea (irregular, sudden, brief, non-repetitive), athetosis (slow, writhing, distal), dystonia (twisting, contraction of agonist and antagonist muscles). Intellect relatively OK. Presents end of 1st year. Hypoxic-ischaemic encephalopathy

254

What are the features of ataxic (hypotonic) CP?

Most genetic. Usually relatively symmetrical. Early trunk and limb hypotonia, poor balance, delayed motor development. Later: incoordinate movements, intention tremor, ataxic gait.

255

What are the clinical features of chickenpox?

Vesicular rash- 200-500 lesions start on head and trunk and progress to peripheries. Crops of papules, vesicles with surrounding erythema and pustules appear at different times for up to 1 week. Lesions may occur on the palate. Itching and scratching can cause permanent depigmented scar formation or secondary infection. Fever at days 0-3 as papules, vesicles and pustules appear.

256

What rash pattern suggests defective cellular immunity in chickenpox?

New lesions appearing beyond 10 days

257

What is the spread and incubation of chickenpox?

Respiratory droplets - highly infectious during viral shedding. 10-23 days incubation (median 14)

258

What are the complications of chickenpox?

Bacterial superinfection (can cause TSS or necrotising fasciitis; suspect i new fever or persistent high fever after first few days; staph, group A strep) CNS: cerebellitis, generalised encephalitis (happens early and prognosis good in comparison to HSV encephalitis), aseptic meningitis Purpura fulminant Immunocompromised: severe progressive disseminated disease (mortality up to 20%), vesicular eruptions persisting and can become haemorrhagic, pneumonitis, DIC

259

What are the features of chickenpox cerebellitis?

Usually occurs about 1 week after onset of rash; child is ataxic with cerebellar signs (usually resolves in 1 month).

260

What are the features of purpura fulminans in chickenpox and what causes it?

Due to vasculitis in skin and subcutaneous tissues. Can cause large areas of skin to necroses. Rarely occurs after VZV infection due to production of antiviral antibodies that cross react and inactivate proteins

261

How should chickenpox be treated?

Oral aciclovir has minimal benefit and is not recommended in the UK, but should be given initially to immunocompromised children. Oral valaciclovir can be subbed if organ dissemination has not occurred, and also for adolescents or adults with primary VZV as it is more severe beyond childhood. VZIG is reserved for high risk immunosuppressed individuals with deficient T lymphocyte function following contact with chickenpox - protection isn't absolute and depends how soon after contact it's given

262

What are the types of child abuse?

Physical Emotional Sexual Neglect Fabricated or induced illness

263

What are some risk factors in the child for abuse?

Failure to meet parental expectations and aspirations e.g. wrong gender, disabled Resulted from forced, coercive or commercial sex

264

What are some risk factors in the parent/carer for abuse?

Mental health problems/ETOH/drugs Parental indifference, intolerance or over anxiousness

265

What are some risk factors in the family for abuse?

Step parents Domestic violence Multiple/closely spaced births Social isolation or perceived lack of social support Young parental age

266

What are some risk factors in the environment for abuse?

Poverty, poor housing Unsavoury neighbourhood

267

What are some non-abuse causes of suspicious bruising, fractures and burns in children?

Bruising: coagulation disorders, Mongolian blue spots Fractures: osteogenesis imperfecta Burns: bullous impetigo or scalded skin syndrome

268

What are the features of Edwards syndrome and what is its cause?

Trisomy 18 1:8000 Low birthweight Prominent occiput Small mouth and chin Short sternum Flexed, overlapping fingers 'Rocker bottom' feet Cardiac and renal malformations

269

What are the features of Patau syndrome and what is its cause?

Trisomy 13 1:14000 Structural defect of brain Scalp defects Small eyes (microphthalmia) and other eye defects Cleft lip and palate Polydactyly Cardiac and renal malformations

270

What are the features of Klinefelter syndrome and what is its cause?

47 XXY Infertility Hypogonadism with small testes Pubertal development may appear normal but some benefit from testosterone Gynaecomastia in adolescence Tall stature Intelligence usually in normal range but some have educational and psychological problems

271

What is the definition of chronic illness?

Lasts or is expected to last ≥3 months Affects the child's usual age appropriate activities Results in extensive utilisation of health care services beyond that generally considered age appropriate

272

What is coeliac disease?

A gluten sensitive enteropathy

273

What is the pathophysiology of coeliac disease?

Gliadin fraction of gluten provokes a damaging immunological response in small intestinal mucosa. Rate of cells moving up each villus is increased, but not enough to compensate for loss at the tips. Villi become shorter and then absent. Mucosa is then flat leading to malabsorption.

274

What are the features of coeliac disease?

Profound malabsorption at 8-24 months after introduction of wheat containing foods Failure to thrive Abdominal distension Buttock wasting Abnormal stools (foul smelling) General irritability Now lots of children present later and less acutely Features variable: also mild nonspecific GI symptoms, anaemia, growth failure

275

How is coeliac disease diagnosed?

Can screen high risk children (autoimmune disease, Down's, family history) Strongly suggestive: tissue transglutaminase antibodies (IgA), endomysial antibodies Gold standard: endoscopic small intestine biopsy showing increased intraepithelial lymphocytes and viable degree of villous atrophy. Resolution of symptoms and catch up of growth on gluten free diet

276

How is coeliac disease managed?

Gluten free diet Dietician to supervise If doubtful, gluten challenge may be needed - monitor serology

277

What is a long term complication of coeliac disease?

Incidence of small bowel malignancy is increased in adulthood but adherence to diet probably solves this

278

What are the features of colic?

Paroxysmal, inconsolable crying or screaming often accompanied by drawing up of the knees. Passage of excessive flatus. Occurs several times a day.

279

How common is colic and when does it start/end?

Up to 40% of babies - typically occurs in first few weeks and resolves by 4 months of age

280

What causes colic? Why is it a problem?

No firm evidence that it has a GI cause. Benign but very frustrating/worrying for parents and may precipitate non-accidental injury in children at risk.

281

How is colic managed?

Support and reassure parents Gripe water often recommended but no proven benefit If severe and persistent, could be a cow's mild protein allergy or gastro-oesophageal reflux so do a trial of 2 weeks whey hydrosylate formula and then a trial of anti-reflux treatment.

282

What are the features of tricuspid atresia?

Only the left ventricle is effective - the right is small and non functional. Common mixing of systemic and pulmonary venous return in the left atrium.

283

How does tricuspid atresia present?

Cyanosis in the newborn period if duct dependent or may be well at birth and then become cyanosed/breathless

284

How should tricuspid atresia be managed?

Early palliation to maintain a secure supply of blood to the lungs at low pressure (Blalock-Taussig shunt in severely cyanosed children, pulmonary artery anding operation to reduce pulmonary blood flow if breathless) Complete corrective surgery not possible in most as only 1 functioning ventricle

285

What operations are available for tricuspid atresia for palliation?

Glenn or hemi-Fontan operation connecting SVC to pulmonary artery after 6 months of age. Fontana operation to also connect the IVC to the pulmonary artery at 3-5 years. The LV drives blood around the body and systemic venous pressure supplies blood to the lungs. Fontana operation gives a less than ideal functional outcome but relieves cyanosis and removes long term volume load on the single functional ventricle.

286

How common is congenital adrenal hyperplasia? In whom is it more common?

1 in 5000 births - commoner in consanguineous marriage

287

What is the cause of congenital adrenal hyperplasia?

Result of lots of autosomal recessive disorders of adrenal steroid biosynthesis. >90% have a 21-hydroxylase deficiency (needed to make cortisol)

288

What are the biochemical features of congenital adrenal hyperplasia?

~80% can't make aldosterone leading to salt loss (low Na, high K). In the foetus cortisol deficiency stimulates the pituitary to produce ACTH driving overproduction of adrenal androgens

289

What are the features of congenital adrenal hyperplasia?

Virilisation of external genitalia in girls (clitoral hypertrophy, variable fusion of the labia). In males: penis may be enlarged and the scrotum pigmented (rarely identified) Salt losing crisis in 80% of males Tall stature in 20% of males who are non-salt losers. Male and female non salt losers: muscular build, adult body odour, pubic hair and acne from excess androgen production, precocious pubarche

290

What are the features of salt losing crisis in congenital adrenal hyperplasia?

1-3 weeks of age Vomiting and weight loss Floppiness Circulatory collapse

291

What family history might there be in congenital adrenal hyperplasia?

Neonatal death (if salt losing crisis wasn't recognised and treated)

292

How is congenital adrenal hyperplasia diagnosed?

Markedly raised levels of the metabolic precursor 17alpha-hdyroxy progesterone in the blood Biochemical abnormalities in salt losers: low plasma sodium, high plasma potassium metabolic acidosis, hypoglycaemia

293

How is congenital adrenal hyperplasia managed?

Females will sometimes need corrective surgery to external genitalia in first year but mostly surgery is delayed until puberty Males in salt losing crisis: saline, dextrose, hydrocortisone IV Glucocorticoids Mineralocorticoids (fludrocortisone) if salt loss Minor growth, skeletal maturity and plasma androgens and 17alpha hydroxy progesterone Additional hormone replacement to cover illness/surgery (can't mount a cortisol response)

294

What is the prognosis for congenital adrenal hyperplasia?

Death can happen from adrenal crisis at illness/injury Females need vaginoplasty and corrective surgery for clitoromegaly before sex Females often have psychosexual problems

295

What should the parents of a child with congenital adrenal hyperplasia do if having another child?

Take dexamethasone at conception and continue if female

296

What are the features of congenital rubella infection?

80% 30% of those infected at 13-16 weeks have impaired hearing Clinical diagnosis unreliable Beyond 18 weeks risk to foetus is minimal Viraemia after birth can still cause damage

297

What are the features of congenital cytomegalovirus?

Most common congenital infection 90% normal at birth and develop normally 5% develop problems later in life, mainly sensorineural hearing loss 5% have clinical features at birth e.g. hepatosplenomegaly, petechiae, and most of these will have neurodevelopment disabilities e.g. sensorineural deafness, cerebral palsy, epilepsy, cognitive impairment

298

How can cytomegalovirus congenital infection be prevented?

Can't really - no vaccine, antiviral therapy in trials, but 50% of European women are susceptible

299

What are the features of varicella zoster virus congenital infection?

Foetus usually unaffected

300

How should infants with high risk period varicella zoster virus infection be managed?

VZIG and often get prophylactic aciclovir as well

301

How can varicella zoster virus congenital infection be prevented?

15% pregnant women are susceptible. Exposed susceptible mothers can be protected with VZIG and aciclovir

302

What are the features of congenital syphilis?

Characteristic rash on hands and soles of feet Bone lesions

303

How should congenital syphilis be managed?

If any doubt about maternal treatment, infant gets penicillin. If identified at antenatal screening, and fully treated more than a month before delivery, infant doesn't need treatment and has excellent prognosis

304

What are the features of toxoplasmosis congenital infection?

Most infected infants are asymptomatic 10% have clinical manifestations: retinopathy, cerebral calcification, hydrocephalus, and usually long term neurodisabilities

305

Where is congenital toxoplasmosis infection more common?

France and Austria

306

What is toxoplasmosis?

Protozoan parasite

307

How do you get toxoplasmosis infection as a pregnant woman?

Eating raw/undercooked meat and contact with cat faeces

308

How is congenital toxoplasmosis infection manageD?

Infected newborns get treated with 1 year of pyrimethamine and sulfadiazine

309

What is the aetiology of congenital nephrotic syndrome?

Rare - commonest kind is recessively inherited Gene frequency high in Finns In the UK more common in consanguineous families

310

When does congenital nephrotic syndrome present?

Usually first 3 months of life

311

What is the prognosis for congenital nephrotic syndrome?

High mortality due to complications of hypoalbuminaemia rathe than renal failure Albuminuria is so severe that unilateral nephrectomy may be needed to control it followed by dialysis for renal failure until child is large and fit enough for renal transplantation

312

How is constipation managed?

If faeces palpable per abdomen: Macrogol laxative e.g. Movicol for 2 weeks If doesn't work, try stimulant laxative e.g. senna or pico sulphate +/- osmotic laxative e.g. lactulose, if doesn't work consider enema +/- sedation or manual evacuation under GA by paeds specialist If faeces not palpable per abdomen: balanced diet, sufficient fluids Maintenance laxatives if success with laxatives Encouragement and close supervision, psychological support if indicated for all

313

What are the red flags for constipation and what might they indicate?

Failure to pass meconium within 24h of life (Hirschsprung disease) Failure to thrive/growth failure (Hypothyroidism, coeliac, others) Gross abdo distension (Hirschsprung, other GI dysmotility) Abnormal lower limb neurology or deformity e.g. talipes, secondary urinary incontinence (lumbosacral pathology) Sacral dimple above natal cleft, over the spine - naevus, hairy patch, central pit, discoloured skin (spina bifida occulta) Abnormal appearance/position/patency of anus (abnormal anorectal anatomy) Perianal bruising or multiple fissures (sexual abuse) Perianal fistula, abscesses or fissures (Crohn's - perianal)

314

What are the clinical features of Crohn's disease?

Classically (25%): abdominal pain, diarrhoea, weight loss Growth failure Delayed puberty General ill health (fever, lethargy, weight loss) Extra intestinal manifestations (oral lesions, perianal skin takes, uveitis, arthralgia, erythema nodosum) Raised inflammatory markers (CRP, ESR

315

What is the pathophysiology in Crohn's disease?

Transmural, focal, subacute or chronic inflammatory disease most commonly affecting the distal ileum and proximal colon. Affects any part of GIT from mouth to anus. Initially, areas of acutely inflamed, thickened bowel. Subsequently, strictures of the bowel may develop and fistulae between bowel and skin or other organs (vagina, bladder)

316

How is Crohn's disease diagnosed?

Gold standard is scope and biopsy - upper GI endoscopy, ileocolonoscopy and small bowel imaging required. Histological hallmark is presence of non caseating epithelioid cell granulomata but isn't seen in up to 30% at presentation. Small bowel imaging may show narrowing, fissuring, mucosal irregularities and bowel wall thickening

317

What are the 3 stages of Crohn's treatment?

Induction of remission Maintenance of remission Surgery for complications

318

How is induction of remission achieved in Crohn's disease?

Nutritional therapy - normal diet replaced with whole protein modular feeds (polymeric diet) for 6-8 weeks; effective in 75% Systemic steroids if ineffective

319

How is remission maintained in Crohn's disease?

Immunosuppressant medication (azathioprine, mercaptopurine, methotrexate) Anti-TNF agents if fails (infliximab, adalimumab) Long term supplemental enteral nutrition to help correct growth failure e.g. overnight nasogastric or gastrostomy feeds

320

What are the indications for surgery in Crohn's disease?

Obstruction Fistulae Abscess formation Severe localised disease unresponsive to medical treatment, often manifesting as growth failure

321

What is the prognosis in Crohn's disease?

Generally good - most live normal lives despite occasional relapsing disease

322

What is the pathophysiology of croup?

Mucosal inflammation and increased secretions. Oedema of the subglottic area - this is particularly dangerous in young children as can cause narrowing of the trachea

323

What are the causes of croup?

95% viral: most commonly parainfluenza, also human metapneumovirus, RSV, influenza

324

When is croup most common?

6 months - 6 year olds; peak in 2nd year of life Commonest in autumn

325

What are the features of croup?

Barking cough Harsh stridor and hoarseness Usually preceded by fever and coryza Symptoms often start and are worse at night Severe respiratory obstruction leads to increased respiratory rate, heart rate, and agitation Central cyanosis or drowsiness indicates severe hypoxaemia

326

What is the best way to assess severity of upper airway obstruction in croup?

Clinically - look at: Degree of chest recession (subcostal, intercostal, sternal) Degree of stridor (none, only on crying, at rest, biphasic)

327

What is the management of mild-moderate croup?

Mild (no stridor/recession at rest): can go home with parents monitoring closely if easy access to hospital Low threshold of admission if

328

How do you manage croup with severe upper airway obstruction?

Nebulised adrenaline with oxygen by facemark Close monitoring; wears off after about 2h Advice of anaesthetist/intensivist due to risk of rebound symptoms Few children need tracheal intubation

329

What are the 3 main lesions which cause cyanotic congenital heart disease?

Tetralogy of Fallot Transposition of the great arteries Eisenmenger syndrome

330

What are the features of tetralogy of Fallot?

Loud murmur at ULSE Clubbing of fingers and toes when older Hypercyanotic spells

331

How is tetralogy of Fallot managed?

Surgery at 6-9 months

332

What are the features of transposition of the great arteries?

Neonatal cyanosis No murmur

333

How is transposition of the great arteries managed?

Prostaglandin infusion Balloon atrial septostomy Arterial switch operation in neonatal period

334

What are the features of Eisenmenger syndrome?

No murmur Right heart failure (late)

335

How is Eisenmenger syndrome managed initially?

Medication to delay transplantation

336

What is the definition of daytime enuresis?

A lack of bladder control during the day in a child old enough to be continent (over 3-5 years)

337

What are the possible causes of daytime enuresis?

Lack of attention to bladder sensation (possibly relates to developmental or psychogenic problem) Detrusor instability (sudden urgent urge to void induced by sudden bladder contractions) Bladder neck weakness Neuropathic bladder (enlarged and fails to empty properly, irregular thick wall and associated with spina bifida and other neurological conditions) UTI Constipation Ectopic ureter (causes constant dribbling and child is always wet)

338

What would be the expiation findings in a neuropathic bladder?

Distended, abnormal perineal sensation, anal tone, leg reflexes and gait

339

What investigations should you consider in daytime enuresis?

Urine MC + S Ultrasound to show bladder pathology Urodynamic studies X ray spine to show vertebral anatomy MRI to confirm or exclude a non-bony spinal defect te.g. tethering of the cord

340

What are some strategies to manage daytime enuresis?

Star charts, bladder training, pelvic floor exercises Treat constipation Small portable alarm Anticholinergic drugs e.g. oxybutynin to damp down bladder contractions which may be helpful if other measures fail

341

What are the clinical features of shock due to dehydration in an infant?

Hypotension Pale or mottled skin Decreased level of consciousness Sunken fontanelle Dry mucous membranes Eyes sunken and tearless Tachypnoea Prolonged cap refill Tachycardia Weak peripheral pulses Reduced tissue turgor Sudden weight loss Reduced urine output Cold extremities

342

When does hyponatraemic dehydration typically happen?

Children with diarrhoea drinking lots of water/other hypotonic solution - there is a greater net loss of sodium than water. More common in poorly nourished children in developing countries

343

What are the problems in hyponatraemia dehydration?

Plasma sodium falls, which leads to a shift of water from extra-to intra-cellular compartments. The increase in intracellular volume leads to increased brain volume which can cause convulsions. Marked extracellular depletion leads to a greater degree of shock per unit water loss.

344

When does hypernatraemic dehydration occur?

Water loss exceed relative sodium loss and plasma sodium increases - usually from high insensible losses (high fever, hot, dry environment) or profuse low0sodium diarrhoea

345

What are the problems in hypernatreamic dehydration?

Extracellular fluid is hypertonic wrt intracellular so water shifts out of cells. Signs of extracellular fluid depletion are less per unit fluid loss so more difficult to diagnose clinically. Dangerous - water is drawn out of the brain and cerebral shrinkage within a rigid skull may lead to jittery movements, increase muscle tone, hyper reflex, altered consciousness, seizures and multiple, small cerebral haemorrhages Some get transient hyperglycaemia which is self correcting and doesn't need insulin

346

How is delayed puberty defined?

The absence of pubertal development by age 14 in females and 15 in males

347

What are the 3 main mechanism for delayed puberty?

Constitutional delay of growth and puberty/familial Low gonadotrophin secretion (hypo-gonadotrophin hypogonadism) High gonadotrophin secretion (hypergonadotrophic hypogonadism)

348

What is the commonest cause of delayed puberty?

Constitutional delay of growth and puberty/familial

349

What are some causes of low gonadotrophin secretion & therefore delayed puberty?

Systemic disease: CF, asthma, Crohn's, organ failure, anorexia, starvation, excess physical training Hypothalamus-pituitary disorders: panhypopituitarism, isolated gonadotrophin/GH deficiency, intracranial tumour, Kallmann syndrome Acquire hypothyroidism

350

What are the causes of high gonadotrophin secretion & therefore delayed puberty?

Chromosomal abnormalities e.g. Klinefelter 47 XXY, Turner 45XO Steroid hormone enzyme deficiencies Acquired gonadal damage: post-surgery, chemotherapy, radiotherapy, trauma, torsion of tests, autoimmune

351

What are the features of delayed puberty?

Short during childhood Delay in sexual maturation Delayed skeletal maturity on bone age Legs long in comparison to the back (eunuchoid body habits) Eventually target height is reached a growth in affected children will continue for longer than their peers Can cause psychological upset

352

What investigations should you do in delayed puberty in boys?

Pubertal staging, especially testicular volume Identification of chronic systemic disorders

353

What investigations should you do in delayed puberty in girls?

Karyotype to identify Turner syndrome Measure thyroid and sex steroid hormones

354

How should delayed puberty be managed?

Reassure that puberty will occur If treatment wanted, oral oxandrolone in males (weekly androgenic anabolic steroid which induces some catch up growth but not secondary sexual characteristics) In older boys, low dose IM testosterone will accelerate growth and induce secondary sexual characteristics Females can be treated with oestradiol

355

How can you assess suicide risk after an adolescent overdose?

PATHOS have you had Problems for over a month? were you Alone in the house at the time? did you plan the overdose for longer than Three hours? are you feeling HOpeless about the future? were you feeling Sad for most of the time before the overdose? 1 for yes, 0 for no, ≥2 is high risk

356

What is dengue fever?

A viral tropical infection spread by mosquitoes

357

What are the clinical features of dengue ever?

Primary infection - fine erythematous rash, myalgia, arthralgia, high fever After resolution of the fever a secondary rash with desquamation may occur

358

When does dengue haemorrhagic fever occur and why?

When a previously infected child has a subsequent infection with a serologically different strain of the virus. The partially effective host immune response augments the severity of the infection

359

What are the features of dengue haemorrhagic fever?

Severe capillary leak syndrome leading to hypotension and haemorrhagic manifestions - with fluid rests most will recover fully

360

Which symptoms of depression are more common in children than in adults?

Apathy, boredom, inability to enjoy oneself rather than depressed mood Separation anxiety which reappears having resolved in earlier life Decline in school performance Social withdrawal Hypochondriacal ideas and complaints of pain in chest, abdomen and head Irritable mood or frankly antisocial behaviour

361

Which symptoms of depression are less common in children than in adults?

Loss of appetite and weight Loss of sleep and libido Slowing of thought and movement Delusional ideas

362

How should mild depression be managed?

Primary care/non specialist May recover spontaneously - can watch and wait for 4 weeks Non-directive supportive therapy/guided self help If doesn't resolve in 2-3 months refer to specialist

363

How should moderate-severe depression be managed?

Refer for: CBT Family therapy Interpersonal therapy If insufficient after 6 weeks try SSRI (fluoxetine) May need to admit if suicidal

364

How is developmental dysplasia of the hip screened for?

Barlow - can hip be dislocated posteriorly out of the acetabulum? Ortolani - can hip be relocated back into the acetabulum on abduction? Done at 8 weeks

365

What are the features of DDH if presenting outside of normal screening?

Limp or abnormal gait Asymmetry of skin folds around hip Limited abduction of hip Shortening of the affected leg

366

How is DDH managed?

Refer to orthopods USS for detailed examination/to see degree of dislocation and ?subluxation/dislocation If initial USS is normal, put in splint/Pavlik harness for several months to keep hip flexed and abducted Monitor progress with USS/X ray Rarely, surgery i sneeded

367

What is the risk of splinting in DDH?

Necrosis of the femoral head

368

What are the early features of diabetes mellitus?

Classical triad: polydipsia, polyuria, weight loss Less commonly: enuresis (secondary), skin sepsis, candida, other infections

369

What are the features of diabetic ketoacidosis?

Smell of acetone on breath Vomiting Dehydration Abdominal pain Hyperventilation due to acidosis (Kussmaul breathing) Hypovolaemic shock Drowsiness Coma and death

370

How should diabetes mellitus be diagnosed?

Raised random blood glucose >11.1 mmol/L (WHO) If in doubt, fasting blood glucose >7 mmol/L or raised HbA1c

371

When should you suspect type 2 diabetes?

Family history Indian subcontinent Severely obese children with signs of insulin resistance (acanthuses nigricans, skin tags, PCOS)

372

How is diabetes mellitus managed?

Education on diet and lifestyle Insulin - mostly by pump or combination of short an long acting Diet - high complex carbohydrates and relatives low fat content Carbohydrate counting Blood glucose monitoring - aim for 4-8 in adolescents and 4-10 in children to avoid hypos

373

What are the features of hypoglycaemia in diabetic children?

Usually symptoms when

374

How is hypoglycaemia managed in diabetic children?

Treat fast to avoid seizures and coma - give glucose tablets or a non-diet sugary drink IV glucose for unconscious children brought into hospital

375

What are some common problems with diabetic control?

Eating too many sugary foods Infrequent/unreliable glucose testing Illness - should continue insulin and test urine for ketones or blood test Exercise - if vigorous or prolonged reduce insulin and increase dietary intake Eating disorders Family disturbance Inadequate family motivation, support or understanding

376

What are some complications to monitor for in diabetes mellitus?

Growth and pubertal development (Delayed puberty/increased BMI) Blood pressure (high) Renal disease - detection of microalbuminuria is an early sign of nephropathy Eyes: retinopathy/cataracts Feet: ulcers Coeliac and thyroid disease Low threshold for investigating other autoimmune conditions

377

How common is diaphragmatic hernia?

1 in 4000 births

378

How does diaphragmatic hernia present?

Often on antenatal USS now Newborn period: failure to respond to resuscitation or as respiratory distress Vigorous resuscitation can cause a pneumothorax in the normal lung, exacerbating the situation

379

What is the pathophysiology in diaphragmatic hernia?

IN most cases = left sided herniation of abdominal contents through the posterolateral foramen of the diaphragm Apex beat and heart sounds are displaced to the right side of the chest Poor air entry in the left chest

380

How is diaphragmatic hernia diagnosed if not seen on antenatal USS?

Chest X ray, abdo X ray

381

How is diaphragmatic hernia managed?

Large nasogastric tube passed and suction applied to prevent distention of the intrathoracic bowel After stabilised, surgical repair

382

What is the main problem in diaphragmatic hernia for most infants?

Pulmonary hypoplasia - compression by herniated viscera throughout pregnancy has prevented development of the lung in the foetus. If lungs are hypoplastic, mortality is high

383

What is the typical craniofacial appearance in Down syndrome?

Round face Flat nasal bridge Upslanted palpebral fissures Epicanthic folds Brush field spots in iris Small mouth and protruding tongue Small ears Flat occiput and 3rd fonatelle

384

What are the anomalies in Down syndrome other than craniofacial changes?

Short neck Single palmar creases Incurved 5th finger Wide 'sandal gap' between toes Hypotonia Congenital heart defects (40% - cause of early mortality) Duodenal atresia Hirschsprung disease

385

What are the later medical problems in Down syndrome?

Delayed motor milestones Moderate-severe learning difficulties Small stature Increased susceptibility to infections Hearing impairment from secretory otitis media Visual impairment: cataracts, squints, myopia Increased risk of leukaemia and solid tumours Risk of atlanto-axial instability Increased risk of hypothyroidism and coeliac Epilepsy Alzheimer's disease

386

What are the genetic causes of Down's?

94% meiotic non disjunction 5% translocation 1% mosaicism

387

What are the risk factors for meiotic non disjunction in Down syndrome and what is the risk of recurrence?

Related to maternal age Risk of recurrence 2x if 35

388

What is the risk of recurrence in Down syndrome caused by translocation?

Examine parental chromosomes 10-15% recurrence if M is carrier 2.5% if F is carrier If a parent has rare 21:21 translocation syndrome, al offspring will have Down's

389

What is the genetic patter in Down's mosaicism?

Some cells are normal and some are trisomy 21; phenotype may be milder

390

How common is Duchenne muscular dystrophy?

1 in 4000 male infants

391

How is Duchenne inherited?

X linked recessive, but about 1/3 have new mutations

392

What is the cause of Duchenne muscular dystrophy?

Deletion on short arm of the X chromosome (Xp21 site) Site codes for a protein called dystrophin, which connects the cytoskeleton of a muscle fibre to the surrounding extracellular metric through the cell membrane Where deficient, there are several aberrant intracellular signalling pathways associated with influx of calcium ions, breakdown of calcium calmodulin complex and excess of free radicals ultimately leads to myofibril necrosis

393

Which biochemical marker is raised in Duchenne?

Serum creatine phosphokinase (CPK)

394

What are the features of Duchenne muscular dystrophy?

Waddling gait and/or language delay Mount stairs one by one Run slowly compared to peers Average age of diagnosis is 5.5 years but often symptomatic much earlier Gower's sign = need to turn prone to rise Pseudo hypertrophy of the calves because of replacement of muscle fibres by fat and fibrous tissue Slower and clumsier than peers About 1/3 have learning difficulties Scoliosis is a common complication

395

What is the prognosis for Duchenne muscular dystrophy?

Progressive muscle atrophy and weakness means usually no longer ambulant by 10-14 years. Life expectancy is reduced to late twenties from respiratory failure or associated cardiomyopathy

396

How is Duchenne muscular dystrophy managed?

Appropriate exercise Prevent contractors with passive stretching and night splints Orthoses to prolong walking Lengthening of Achilles tendon Scoliosis - good posture, brace, surgical insertion of metal rod Nocturnal hypoxia - overnight CPAP, non invasive positive pressure ventilation Ambulant children increasingly given corticosteroids to preserve mobility and prevent scoliosis (mechanism unknown)

397

Define malformation and give an example

A primary structural defect occurring during the development of a tissue/organ e.g. spina bifida, cleft lip and palate

398

Define deformation and give an example

Implies an abnormal intrauterine force that distorts a normally formed structure e.g. joint contractors due to foetal compression in oligohydramnios

399

Define disruption and give an example

Destruction of a foetal part which initially formed normally e.g. amniotic membrane rupture -> amniotic bands -> limb reduction defects

400

Define dysplasia and give an example

Abnormal cellular organisation or function of specific tissue types e.g. skeletal dysplasia

401

What is a 'sequence' of abnormalities?

A pattern of multiple abnormalities occurring after one initiating defect

402

What is an 'association' of abnormalities?

A group of malformations that occur together more often than expected by chance but in different combinations from case to case

403

What is a 'syndrome' of abnormalities?

When a particular set of multiple abnormalities occurs repeatedly in a consistent pattern/there is a known/thought to be a common underlying causal mechanism.

404

What is Eisenmenger syndrome?

High pulmonary blood flow due to large L->R shunt or common mixing unit which isn't treated at an early stage. Pulmonary arteries become thick walls and resistance to flow increases. Gradually, children that survive become less symptomatic as the shunt decreases. Eventually at 10-15 years the shunt reverses and the teenager becomes blue, which is Eisenmenger syndrome.

405

What is the prognosis for Eisenmenger syndrome?

Progressive e- adult will die in right heart failure at a variable age (normally 4th/5th decade of life)

406

How is Eisenmenger syndrome treated?

Aimed at prevention (early intervention for high pulmonary blood flow). Transplantation isn't easily available but there are medicines to palliate pulmonary vascular disease.

407

What is encephalitis?

Inflammation of the brain substance, although meninges are often also affected

408

What can cause encephalitis?

Direct invasion of cerebrum by a neurotic virus Delayed brain swelling following a disordered neuro-immunological repsonse to an antigen, usually a virus e.g. chickenpox Slow virus infection e.g. HIV or subacute sclerosing pan encephalitis following measles

409

What are the clinical features of encephalitis?

Fever Lethargy Irritability Loss of consciousness Headache Poor feeding Hypotonia Seizures Photophobia Vomiting Drowsiness

410

How do most cases of encephalitis present?

Fever, altered consciousness, and seizures

411

What are the most common causes of encephalitis in the UK?

Enteroviruses, respiratory viruses, herpesviruses (HHV6, HSV, varicella)

412

What are the most common causes of encephalitis worldwide?

Mycoplasma, Borrelia burgdorferia, Bartonella henselae (cat scratch disease), rickettsial infections (e.g. Rocky Mountain Spotted Fever), arboviruses

413

How is HSV encephalitis managed and why?

Rare but can have devastating long term consequences (untreated mortality rate is >70% and survivors usually have severe neurological sequelae) so all cases should get high dose IV aciclovir initially. Proven cases/high index of suspicion should have intravenous aciclovir for 3 weeks (Relapse can occur with shorter course)

414

What are some enteroviral infections?

Coxsackie virus, echovirus, poliovirus

415

How are enteroviral infections transmitted?

Faecal oral - replication in pharynx and gut and then spread to other organs

416

When are enteroviral infections most common?

Summer and autumn

417

How do most enteroviral infections present?

90% are asymptomatic or have a non-specific febrile illness +/- blanching rash on trunk/fine petechiae. History of vomiting/loose stools/contact is supportive.

418

What are the features of hand, foot and mouth disease?

Painful vesicular lesions on hands, feet, mouth and tongue and often on buttocks. Systemic features are mild and resolves in a few days with fluids and analgesia.

419

What are the features of herpangina?

Vesicular and ulcerate lesions on soft palate and uvula/ Causes anorexia, pain on swallowing and fever. Resolves with fluids and analgesia.

420

What is the prognosis for meningitis/encephalitis caused by enteroviruses?

Complete recovery can be expected

421

What are the features of pleurodynia/Bornholm disease?

Acute illness with fever, pleuritic chest pain and muscle tenderness. May be a pleural rub but examination otherwise normal. Recovery within a few days.

422

What are the features of myocarditis and pericarditis caused by enteroviral infection?

Rare - heart failure associated with a febrile illness and ECG evidence of myocarditis.

423

What is epilepsy?

A chronic neurological disorder characterised by recurrent unprovoked seizures, consisting of transient signs and/or symptoms associated with abnormal, excessive, or synchronous neuronal activity in the brain. Mostly idiopathic.

424

How is epilepsy diagnosed?

Detailed history from child and witnesses, with video if possible Focus on triggers and impairments Check for skin markers for a neurocutaneous syndrome or neurological abnormalities

425

What investigations should you do in epilepsy

EEG is indicated whenever suspected Imaging: MRI/CT (if suspects structural problem), PET/SPECT to detect areas of abnormal metabolism suggestive of seizure foci Metabolic Ix if developmental regression or seizures related to feeds/fasting Genetic studies likely to be more commonly done in the future.

426

What does an EEG show in epilepsy?

Can identify abnormal background for child's age, asymmetry of slowing the indicates a structural abnormality Evidence of neuronal hyper excitability (Sharp waves or spike-wave complexes) Abnormal EEG doesn't mean epilepsy and a normal EEG doesn't exclude epilepsy - just supports diagnosis

427

How is epilepsy managed?

Explanation and advice first Anti epileptic drug therapy (not for all) Ketogenic (fat based) diets Vagal nerve stimulation Surgery: mainly temporal lobectomy for medial temporal sclerosis

428

How is medication used in epilepsy?

Not needed for all - depends on seizure type, frequency, consequences Choose appropriate drug for the seizure Aim for mono therapy at minimum dosage Those with prolonged seizures need rescue therapy with them (rectal diazepam or buccal midazolam)

429

When can you discontinue anti epileptic medication?

After 2 years seizure free

430

What advice should you give epileptic children?

Avoid situations where a seizure could lead to injury/be fatal e.g. deep baths, swimming alone in deep water Discuss contraception and pregnancy with adolescents

431

What is the prognosis for epilepsy?

Small risk of Sudden Unexpected Death in Epilepsy (SUDEP) 2/3 go to mainstream school 1/3 need special school but these children usually have other problems Do less well educationally, with social outcomes and with future employment than children with other chronic illnesses e.g. diabetes

432

What age does West Syndrome present?

4-6 months

433

What is the seizure pattern in West Syndrome?

Violent flexor spasms of head, trunk and limbs, then extension of arms (salaam spasms). Spasms last 1-2s, often bursts of 20-30, often on waking. May be thought to be colic. Social interaction often deteriorates

434

What ist he cause of West syndrome?

Many - 2/3 hav eunderlying neuro case

435

What does the EEG show in West syndrome?

Hypsarrhythmia - chaotic with high voltage slow waves and multifocal sharp wave discharges

436

How is West syndrome treated?

Vigabatrin or corticosteroids (30-40% good response)

437

What are the consequences of West syndrome?

Loss of skills, learning disability, epilepsy

438

What age does Lennox-Gastaut syndrome present?

1-3 years

439

What is the seizure pattern in Lennox-Gastaut syndrome?

Multiple types but especially drop attacks (astatic seizures), tonic seizures and atypical absences.

440

Other than seizures what are the features of Lennox-Gastaut syndrome?

Neurodevelopment arrest, or regression, or behavioural problems

441

What do children with Lennox-Gastaut syndrome often have a history of?

Complex neurological problems or history of infantile spasms

442

What is the prognosis in Lennox-Gastaut syndrome?

Poor

443

What age does childhood absence epilepsy present?

4-12 years

444

What is the seizure pattern in childhood absence epilepsy?

Stare momentarily and stop moving, may twitch eyelids/hands. Lasts a few seconds (

445

How common is childhood absence epilepsy?

2% of childhood epilepsy

446

Is childhood absence epilepsy more common in boys or girls?

2/3 female

447

What can induce childhood absence epilepsy?

Hyperventilation or asking child to blow on a piece of paper/windmill for 2-3 mins

448

What does the EEG show in childhood absence epilepsy?

Generalised 3 second spike and wave discharge which is bilaterally synchronous during and sometimes between episodes

449

What is the prognosis in childhood absence epilepsy?

Developmentally normal but might interfere with schooling 95% remission by adolescence 5-10% have tonic-clinics in adulthood

450

What age does benign epilepsy with centro-temporal spikes (BECTS) present?

4-10 years

451

What is the seizure pattern in benign epilepsy with centro-temporal spikes (BECTS)?

Tonic clonic seizures in sleep or simple focal seizures with awareness of abnormal feelings in the tongue and distortion of the face (supplied by the Rolandic area of the brain)

452

How common is benign epilepsy with centro-temporal spikes (BECTS)?

15% of all childhood epilepsies

453

What does the EEG show in benign epilepsy with centro-temporal spikes (BECTS)?

Sharp focal waves from the Rolandic or centrotemporal area

454

What is the prognosis in benign epilepsy with centro-temporal spikes (BECTS)?

Benign - doesn't always need treatment and almost all remit in adolescence

455

What age does Early Onset Benign Childhood Occipital Epilepsy (Panayiotopoulos type) present/affect?

1-14 years

456

What is the seizure pattern in Early Onset Benign Childhood Occipital Epilepsy (Panayiotopoulos type)?

Younger children: periods of unresponsiveness, eye deviation, vomiting and autonomic features Older children: headache and visual disturbance including distortion of images and hallucinations

457

What does the EEG show in Early Onset Benign Childhood Occipital Epilepsy (Panayiotopoulos type)?

Occipital discharges

458

What is the prognosis in Early Onset Benign Childhood Occipital Epilepsy (Panayiotopoulos type)?

Remits in childhood

459

What age does Juvenile Myoclonic Epilepsy present/affect?

Adolescence-adulthood

460

What is the seizure pattern in Juvenile Myoclonic Epilepsy?

Myoclonic but generalised tonic-clonic and absences may occur, mostly shortly after waking. Typical history is throwing drinks or cornflakes about in the morning as myoclonus occurs at this time

461

What is the prognosis for Juvenile Myoclonic Epilepsy?

Learning is unimpaired Response to treatment is usually good but lifelong. Remission unlikely

462

What is the cause of Juvenile Myoclonic Epilepsy?

Not entirely clear but a genetic linkage has been identified

463

What does erythema multiform look like?

Target lesions with a central papule surrounded by an erythematous ring, can also be vesicular or bullous

464

What are the causes of erythema multiform?

Herpes simplex infection Mycoplasma pneumoniae Other infections Drug reaction Idiopathic

465

What does erythema nodosum look like?

Tender nodules over the legs (red)

466

What are the causes of erythema nodosum?

Streptococcal infection Primary tuberculosis Inflammatory bowel disease Drug reaction Idiopathic Sarcoidosis is a common cause in adults but is rare in children

467

What is erythema toxic also known as?

Neonatal urticaria

468

What are the features of erythema toxic?

Common rash appearing at 2-3 days of age White pinpoint papules at the centre of an erythematous base. The fluid contains eosinophils. Lesions are concentrated on the trunk and come and go at other sites

469

How is erythema toxic managed?

It isn't - will resolve spontaneously

470

What is the limit of viability for preterm birth?

23-24 weeks empirically

471

What are the GMC/RCPCH 5 situations in which it may be ethical and legal to consider withholding/withdrawing treatment?

Brain dead child Permanent vegetativ e state 'No chance' - life sustaining treatment only delays death without significant alleviation of suffering 'No purpose' - although the patient might be able to survive with treatment, the physical/mental impairment would be so great that it's unreasonable to expect them to bear it 'Unbearable' - progressive and irreversible illness an further treatment is more than can be borne

472

What is a febrile seizure?

A seizure accompanied by a fever in the absence of intracranial infection due to bacterial meningitis or viral encephalitis

473

How common are febrile seizures?

Occurs in 3% of children between 6 months and 5 years

474

How important is family history in febrile seizures?

10% risk if a 1st degree relative had febrile seizures

475

What are the features of febrile seizures?

Early in a viral infection when temp is rising rapidly Usually brief, generalised tonic clonic

476

What is the risk of recurrence in febrile seizures?

30-40% will have another, more likely if: Younger child Shorter duration of illness before seizures Lower temp at time of seizure Positive family history

477

What ist he prognosis in febrile seizures?

Simple febrile seizures don't cause brain damage and have no effect on subsequence intellectual performance 1-2% chance of developing epilepsy (same as all children) Complex febrile seizures (focal, prolonged, or repeated in the same illness) have 4-12% risk of subsequent epilepsy

478

What investigations should you do in febrile seizures?

Look for cause of fever May need infection screen as features of meningitis not always apparent in

479

How should febrile seizures be managed?

Reassure and inform parents. Antipyretics don't prevent seizures and tepid sponging no longer recommended. Teach 1st aid management of seizures. If prolonged (>5m) seizures then can supply rescue therapy with rectal diazepam or buccal midazolam Oral prophylactic anti epileptics not used as they don't reduce recurrence rate/risk of epilepsy Don't EEG as it doesn't guide Rx or predict seizures recurrence

480

How is dehydration classified?

481

How should dehydration if

Prevent: Continue breastfeeding/other milk feeds Encourage fluid intake to compensate for GI losses Discourage fruit juices and carbonated drinks ORS as a supplemental fluid if increased risk of dehydration

482

How should clinical dehydration be managed?

ORS: Fluid deficit replacement fluids (50ml/kg) over 4h as well as maintenance fluid requirements ORS often and in small amounts Continue breastfeeding Considerrsupplementing ORS with usual fluids if inadequate ORS intake If inadequate fluid intake or vomiting persistently consider ORS via NG tube

483

How should shock due to dehydration be managed?

Intravenous - rapid infusion of 0.9% sodium chloride Repeat if necessary If still shocked consider consulting paediatric intensive care specialist

484

How should you manage clinical dehydration if, after ORS, the child is deteriorating/vomiting persistently?

Intravenous rehydration

485

How is IV rehydration done?

Replace fluid deficit and give maintenance fluids Deficit is 100ml/kg (10% body weight) if initially shocked, 50ml/kg (5% weight) if not shocked Give 0.9% NaCl solution or 0.9% NaCl with 5% glucose Monitor plasma electrolytes, urea, creatinine, glucose Consider IV potassium supplementation Continue breast feeding if possible

486

How should you manage dehydrated children after rehydration?

Give full strength milk and reintroduce usual sold food Avoid fruit juices and carbonated drinks Advice parents about diligent hand washing, towels used by child not to be shared, don't go back to school/nursery until 48h after last vomiting/diarrhoea

487

Is food allergy usually primary or secondary?

Primary

488

What are some common food allergens?

Infants: milk, egg, peanut Older: peanut, tree nut, fish and shellfish

489

What is primary food allergy?

Failure to ever develop tolerance

490

What is secondary food allergy?

Usually due to cross-reactivity of proteins in fruit/veg/nuts and in pollens

491

What is oral allergy syndrome?

Kids who can eat apples may develop allergy to them if they become allergic to birch tree pollen. Common but usually milder than primary food allergy (just itchy mouth)

492

What ist he timescale for non-IgE food allergy?

Typically hours after ingestion and involves GI tract

493

What are the clinical features of IgE mediated food allergy?

Urticaria, facial swelling, anaphylaxis 10-15 mins after ingestion Often 1st occasion food knowingly ingested

494

What are the clinical features of non IgE mediated food allergy?

Diarrhoea, vomiting, abdominal pain and failure to thrive May have colic/eczema Sometimes presents in 1st few weeks of life with blood stools from proctitis

495

Which are the most helpful tests for IgE mediated food allergy?

Skin prick tests RAST - measurement of specific IGE antibodies in blood Both can have false positives but the greater the response the more likely the child is allergic Negative skin results make IgE mediated allergy unlikely

496

How do you diagnose non IgE mediated food allergies?

Usually clinical history and examination. Do an endoscopy and intestinal biopsy if indicated. Diagnosis is supported by eosinophilic infiltrates

497

What is the gold standard for food allergy diagnosis?

Exclusion diet (under dietitian) with double blind placebo controlled food challenge. Start with a ting quantity and increase to a full portion. Do it in hospital, monitor closely, and have resus facilities available.

498

How should food allergy be managed?

Avoid the relevant foods Take advice from paediatric dietitian to help patients avoid the right foods and also avoid nutritional deficiencies Ensure able to manage an allergic attack - written advice and training, antihistamines for mild attacks, epinephrine IM by auto injection in a severe reaction and carry an Epipen at all times

499

What is the prognosis in food allergy?

Allergy to cow's milk and eggs often resolves in early childhood To nuts and seafood usually persists through to adulthood

500

How should you manage foreign body airway obstruction?

Assess severity. Effective cough -> encourage Ineffective cough -> check consciousness Unconscious: open airway, 5 breaths, start CPR Conscious: 5 back blows, 5 thrusts (chest for infant, abdominal for child >1 year)

501

What are the causes of funny turns in children?

Breath holding attacks Reflex anoxic seizures Syncope Migraine Benign paroxysmal vertigo Cardiac arrhythmia Tics, daydreaming, night terrors Self gratification Non epileptic attack disorder Pseudo seizures Fabricated Induced illness Paroxysmal movement disorders

502

What are the features of breath holding attacks?

Upset toddlers - cry, hold breath, and turn blue Sometimes lose consciousness but recover rapidly

503

How are breath holding attacks managed?

Drug therapy unhelpful. They resolve spontaneously but behaviour modification therapy with distraction may help.

504

Who do reflex anoxic seizures affect?

Infants/toddlers +/- 1st degree relative with history of faints

505

What are some common triggers for reflex anoxic seizures?

Pain/discomfort Minor head trauma Cold food Fright Fever

506

What are the features of reflex anoxic seizures?

Child becomes very pale and falls to the floor. Hypoxia may induce a generalised tonic clonic seizures Episodes are due to cardiac systole from vagal inhibition Seizure is brief and recovery is rapid

507

What are the EEG features of reflex anoxic seizures?

Ocular compression under controlled conditions often leads to systole and paroxysmal slow wave discharge on the EEG

508

What are the features of syncope?

Hot and stuffy environments Standing for long periods Fear Clonic movements may occur

509

How can a migraine present as a funny turn?

Can lead to a paroxysmal headache involving unsteadiness/light headedness as well as visual/GI disturbance. Some young people get episodes without headache

510

What are the features benign paroxysmal vertigo?

Recurrent episodes of vertigo lasting one to several minutes, associated with nystagmus, unsteadiness or even falling. Primary headache disorder of childhood which is occasionally due to a viral labyrinthitis

511

What causes gastro-oesophageal reflux?

Inappropriate relaxation of the lower oesophageal sphincter as a result of functional immaturity

512

What are the contributory factors to gastro-oesophageal reflux?

Predominantly fluid diet Mainly horizontal posture Short intra-abdominal length of oesophagus

513

When is gastro-oesophageal reflux common?

1st year - mostly resolves by 12 months

514

What are the features of gastro-oesophageal reflux?

Recurrent regurgitation or vomiting, putting on weight normally, otherwise well

515

In whom is severe gastro-oesophageal reflux more common?

Children with cerebral palsy or other neurodevelopment disorders Preterm infants, especially if also bronchopulmonary dysplasia Following surgery for oesophageal atresia or diaphragmatic hernia

516

What are the potential complications from gastro-oesophageal reflux disease?

Failure to thrive from severe vomiting Oesophagitis - haematemesis, discomfort on feeding or heartburn, iron deficiency anaemia Recurrent pulmonary aspiration: recurrent pneumonia, cough or wheeze, apnoea in preterm infants Dystonic neck posturing (Sandifer syndrome) Apparent life threatening events (ALTE)

517

Which diagnostic tests are needed in gastro-oesophageal reflux?

None - usually clinical diagnosis - but investigate if history is atypical, complications ore present, or not responding to treatment

518

What investigations might you do in gastro oesophageal reflux?

24h oesophageal pH monitoring 24h impedence monitoring Endoscopy with oesophageal biopsies Contrast studies of GIT are not sensitive or specific but may support Dx and may be needed to exclude anatomical abnormalities and malrotation

519

How is uncomplicated GOR managed?

Reassure Inert thickening agents in feeds Position in 30 degree head-up position after feeds

520

How is more significant GOR managed?

Acid suppression with H2 receptor antagonists (e.g. ranitidine) or proton pump inhibitors (e.g. omeprazole); these reduce the volume of gastric contents and treat acid related oesophagitis. Can try drugs that enhance gastric emptying e.g. domperidone but evidence is poor If these fail, investigate and exclude other diagnoses.

521

Which children have surgery for GOR?

Those with complications/unresponsive to intensive medical treatment or oesophageal stricture

522

What surgery do children with GOR have?

Nissen fundoplication - Fundus of the stomach is wrapped around the intra-abdominal oesophagus - abdominal or laparoscopic

523

What are the causes of gastroenteritis?

Rotavirus - up to 60% of causes in

524

Which children with gastroenteritis are at a greater risk of dehydration?

Infants - particularly

525

What is the most serious complication of gastroenteritis?

Dehydration leading to shock

526

Why do infants have a higher dehydration risk than adults?

Greater surface area:volume ratio Higher insensible water loss Higher basal fluid requirements Immature renal tubular reabsorption Can't obtain fluids for themselves

527

How can gastroenteritis relate to nutrition?

Only really in developing countries - recurrent diarrhoea causes malnutrition. Children should increase intake following diarrhoea. May be associated with zinc deficiency and supplement may help acutely and as prophylaxis.

528

What are the features of gastroenteritis?

Sudden change to loose/water stools, often with vomiting May have had contact with someone with D+V or have recently gone abroad

529

How can you clinically assess dehydration?

Best measure is weight loss - but also look at mucous membranes etc.

530

When should you do a stool culture for gastroenteritis?

Appears septic Blood or mucus in stools Child is immunocompromised Recent foreign travel Not improved by day 7 and diagnosis uncertain

531

When should you test plasma electrolytes, urea, creatinine and glucose in gastroenteritis?

If IV fluids are needed or if the child has features of hypernatraemia

532

When should you do a blood culture in gastroenteritis?

If giving antibiotics

533

How should you manage hypernatraemic dehydration in gastroenteritis?

ORS, don't lower plasma sodium too quickly or water will shift into cerebral cells (causing seizures and cerebral oedema). Replace fluid over ≥48 hours, measure plasma Na regularly aiming to reduce by

534

Should you give antidiarrhoeals and antiemetics in gastroenteritis?

NO! Ineffective, costly, side effects, may prolong excretion of bacteria in stools and take focus away from rehydration

535

When are antibiotics used in gastroenteritis?

Suspected/confirmed sepsis Extra intestinal spread Salmonella

536

What is the commonest red cell enzymopathy?

Glucose 6 phosphate dehydrogenase deficiency

537

Which groups have the highest rates of G6PD deficiency?

Central Africa Mediterranean Middle East Far East

538

What is G6PD for and therefore what does G6PD deficiency mean?

Rate limiting enzyme in pentose phosphate pathway. Essential for preventive oxidative damage to red cells, so red cells without G6PD are susceptible to oxidant induced haemolysis

539

How is G6PD deficiency inherited?

X linked

540

What phenotype are heterozygous female in G6PD deficiency?

Clinically normal - they have 1/2 normal G6PD activity

541

When are females affected by G6PD deficiency?

Homozygous More commonly - by chance more of the abnormal Cs have been activated

542

How does the clinical picture of G6PD deficiency vary across ethnicities?

Mediterranean, Middle Eastern, Oriental affect males have very low/absent enzyme activity. Affected Afro Caribbean's have 10-15% activity

543

What are the clinical features of G6PD deficiency?

Neonatal jaundice (1st 3 days) Acute haemolysis precipitated by infection, drugs, broad beans, naphthalene in moth balls. Haemolysis is mostly intravascular and is associated with fever, malaise, passage of dark urine (contains haemoglobin and urobilinogen)

544

What happens to haemoglobin levels in G6PD deficiency associated haemolysis?

Fall rapidly - may drop below 5g/dl over 24-48 hours

545

How is diagnosis of G6PD made?

Between episodes almost all patients have a completely normal blood picture and no jaundice or anaemia - so diagnosis must be made by measuring G6PD activity in red blood cells

546

Why might G6PD levels be misleadingly elevated during a haemolytic crisis of G6PD deficiency?

Because there is a higher enzyme concentration in reticulocytes, and these are produced in increased numbers due to the destruction of mature RBCs.

547

How should you manage G6PD deficiency?

Give advice about signs of acute haemolysis (jaundice, pallor, dark urine) Transfusions rarely required, even for acute episodes Give a list of drugs, chemicals and foods to avoid

548

Which drugs, chemicals and foods should someone with G6PD deficiency avoid?

Antimalarials: primaquine, quinine, chloroquine Antibiotics: sulphonamides (eincl cotrimoxazole), quinolone (cirpoflocaxin, nalidixic acid), nitrofurantoin Analgesics: aspirin (in high doses) Chemicals: naphthalene (mothballs), divicine (fava/broad beans)

549

What is the pathology in glycogen storage disorders?

Recessively inherited disorders with specific enzyme defects which prevent mobilisation of glucose from glycogen resulting in abnormal storage of glycogen in liver and/or muscle

550

What are the long term complications of Type ! glycogen storage disease (Von Gierke)?

Hyperlipidaemia, hyperuricaemia, development of hepatic adenomas and cardiovascular disease

551

How are glycogen storage disorders managed?

Maintain blood glucose by frequent feeds or by carbohydrate infusion via gastrostomy/nasogastric tube in infancy. Can use slow-release oligosaccharides (e.g. corn starch) in older children

552

How is type II glycogen storage disorder (Pompe) treated?

Enzyme replacement (Myozyme) now available

553

What kind of diet is recommended in type III glycogen storage disorder (Cori) and why?

High protein - to prevent growth retardation and myopathy

554

What are the features of type I glycogen storage disorder (Von Gierke)?

Glucose-6-pohsphatase defect Infant onset Liver affected, not muscle Enlarged liver and kidneys, growth failure, hypoglycaemia, 'doll facies' Good prognosis

555

What are the features of type II glycogen storage disorder (Pompme)?

Lysosomal alpha glucosidase defect. Infant onset, muscle > liver Hypotonia and cardiomegaly at several months. Enzyme replacement therapy available. Death is due to heart failure

556

What are the features of type III glycogen storage disorder (Cori)?

Amylo-1,6-glocosidase defect Infant onset, liver > muscle Milder features of type I but muscles may be affected - good prognosis

557

What are the features of type V glycogen storage disorder (McArdle)?

Phosphorylase defect. Child onset, muscle affected. Temporary weakness and cramps in muscles after exercise. Myoglobinuria in later life.

558

What is the normal pattern of growth in childhood?

Infancy (0-2 years) - rapid but rapidly decelerating rate of growth Childhood (2 years - puberty) - constant rate of growth Puberty (timing variable) - rapid growth rate reaching a peak then slowing down

559

What are the cause of short stature/growth failure?

Familial Due ti IUGR/SGA Syndromes/chromosomal/gene abnormality Skeletal dysplasias Psychosocial deprivation Chronic childhood illnesses Endocrine disorders Constitutional delay of growth and puberty

560

What are the causes of tall stature/rapid growth?

Familial Syndromes/chromosomal abnormality e.g. Klinefelter 47XXY, Soto's syndrome Precocious puberty Endocrine disorders: growth hormone excess, thyrotoxicosis

561

When is the Guthrie test taken?

Days 5-9 o flife

562

What is included in the Guthrie test?

Phenylketonuria Hypothyroidism Haemoglobinopathies (sickle cell and thalassaemia) Cystic fibrosis MCADD

563

How does cystic fibrosis screening work?

Measure the serum immunoreactive trypsin, which is raised if there is pancreatic duct obstruction/ IF raised, DNA analysis is done to reduce the false positive rate

564

What is MCADD?

Medium chain acyl-CoA dehydrogenase deficiency - a rare inborn error of mitochondrial fatty acid metabolism causing acute illness and hypoglycaemia following fasting

565

How is haemophilia inherited?

X linked recessive. 2/3 have a family history, 1/3 are sporadic. Severity is usually consistent within a family.

566

What is deficient in haemophilia A?

Factor 8

567

How common is haemophilia A?

1:500

568

What is deficiency in haemophilia B?

Factor 9

569

How common is haemophilia B?

1:30,000

570

How much factor is there in mild haemophilia and what kind of bleeding do they show?

>5-40%. Bleed after surgery.

571

How much factor is there in moderate haemophilia and what kind of bleeding do they show?

1-5%; bleed after minor trauma

572

How much factor is there in severe haemophilia and what kind of bleeding do they show?

573

When does haemophilia present?

Usually by about 1 years; around 40% present as neonates

574

Where are the bleeds in haemophilia usually?

Joints/muscles

575

How might haemophilia present in the neonatal period?

Intracranial haemorrhage Bleeding post circumcision Prolonged oozing from heel prick/venepuncture sites

576

How is haemophilia managed?

Recombinant factor 8/9 Avoid IM injections, aspirin, NSAIDs Home treatment to avoid delay Prophylactic factor 8/9 Desmopressin for mild haemophilia A MDT

577

When/how should you give recombinant factor 8/9 in haemophilia?

Prompt IV infusion when bleeding. Plasma derived purified if no recombinant available. Raising circulating level to 30% of normal is sufficient for minor or simple joint bleeds. If major surgery or life threatening bleed need to raise level to 100% and maintain at 30-50% for 2 weeks to prevent secondary haemorrhage. This needs regular infusion of factor concentrate and monitoring of levels.

578

How/when/why should you give prophylactic factor 8/9 for haemophilia?

All children with severe haemophilia - reduces risk of chronic joint damage. Raise baseline >2%. From 2-3 years, 2-3 times per week. Via peripheral or central venous access

579

Why is desmopressin helpful in mild haemophilia A?

Stimulates endogenous release of factor 8:C and vWF. May allow management without blood products e.g. to allow minor surgery/dental extraction. Given by infusion.

580

What are the complications of haemophilia treatment?

Inhibitors - antibodies to F8 or F9 (develop in 5-20% and reduce or completely inhibit the effect of Rx, requiring use of v high doses of factor or bypassing agents e.g. F7a to treat bleeding. May be amenable to immune tolerance induction). Transfusion transmitted infections - Hep A, B, B, HIV

581

What will blood results show in haemophilia A?

High APTT, low factor 8:C

582

What are the causes of primary headaches?

Migraine Tension type headaches Cluster headache and other trigeminal autonomic cephalgias

583

What are the causes of secondary headaches?

Head and/or neck trauma Cranial or cervical vascular disorder - vascular malformations, or intracranial haemorrhage Non-vascular intracranial disorder - raised ICP, idiopathic intracranial hypertension Substance or its withdrawal - alcohol, solvent or drug abuse Infection - meningitis or encephalitis Disorders of homeostasis - hypercapnia or hypertension Disorder of facial or racial structures - acute sinusitis Psychiatric disorder

584

How should headaches in children be managed?

Explanation and advice No imaging if no red flag symptoms Inform parents that recurrent headaches are common Rescue treatments: analgesia (paracetamol, NSAIDs), antiemetics (prochlorperazine and metoclopramide), serotonin (5HT) agonists e.g. sumatriptan (nasal preparation licensed for over 12s) Prophylactic agents if frequent and intrusive: pizotifen (5HT antagonist, can cause weight gain and sleepiness), beta blockers (contraindicated in asthma), sodium channel blockers (valproate or topiramate) Psychosocial support (relaxation, deal with stressors)

585

What are the causes of sensorineural hearing impairment?

Mostly genetic Ante and perinatal (congenital infection, preterm, hypoxic-ischaemic encephalopathy, hyperbilirubinaemia) Postnatal: meningitis, encephalitis, head injury, drugs e.g. aminoglycosides, furosemide, neurodegenerative disorders

586

What are the causes of conductive hearing impairment?

Otitis media with effusion (glue ear) Eustachian tube dysfunction (Down syndrome, Cleft palate, Pierre Robin sequence, mid facial hypoplasia), wax (only rarely a cause of hearing loss)

587

How does the hearing loss in sensorineural and conductive hearing impairment compare?

Sensorineural may be profound (>90dB loss). In conductive the max loss is 60dB.

588

How does the natural history in sensorineural and conductive hearing impairment compare?

Sensorineural: doesn't improve and may progress Conductive: intermittent or resolves

589

How does the management in sensorineural and conductive hearing impairment compare?

Sensorineural: amplification or cochlear implant if necessary Conductive: conservative, amplification or surgery

590

What strategies might help a child with hearing impairment at school?

Place in the front of class so they can see the teacher Gesture, visual context and lip movement helps to develop language concepts Speech may be delayed but can still be good quality with therapy Modified and simplified signing e.g. Makaton if hearing impaired and learning disabled Specialist teaching Special school if needed

591

What are the symptoms of heart failure?

Breathlessness, particularly on feeding or exertion Sweating Poor feeding Recurrent chest infections

592

What are the signs of heart failure?

Poor weight gain/faltering growth Tachypnoea Tachycardia Heart murmur, gallop rhythm Enlarged heart Hepatomegaly Cool peripheries

593

What are the features of right heart failure?

Ankle oedema and sacral oedema, ascites. Rare in developed countries but may be seen with long standing rheumatic fever or pulmonary hypertension, with tricuspid regurgitation and right atrial dilatation

594

What are the causes of heart failure in neonates?

Obstructed (duct dependent) systemic circulation Hypo plastic left heart syndrome Critical aortic valve stenosis Severe coarctation of the aorta Interruption of the aortic arch

595

What are the causes of heart failure in infants?

High pulmonary blood flow Ventricular septal defect Atrioventricular septal defect Large persistent ductus arteriosus

596

What are the causes of heart failure in older children and adolescents??

Right or left heart failure Eisenmenger syndrome (Right heart failure only) Rheumatic heart disease Cardiomyopathy

597

How common is hereditary spherocytosis?

1 in 500 Caucasian births

598

How is hereditary spherocytosis usually inherited?

Autosoma dominant, but 25% are due to a new mutation

599

What is the pathology in hereditary spherocytosis?

Mutations in genes for proteins of the red cell membrane (spectrum, ankyrin, band 3). The RBC loses part of its membrane the nit passes through the spleen as a result. Reduced surface:volume ratio makes the cells spherical. They are less deformable and get destroyed in spleen microvasculature.

600

What are the clinical features of hereditary spherocytosis?

Variable - may be asymptomatic Jaundice: during childhood can be intermittent or cause severe haemolytic jaundice in the first few days Anaemia: presents in childhood, mild (9-11g/dl) but can fall during infections Mild to moderate splenomegaly depending on rate of haemolysis Aplastic crisis: uncommon, transient (2-4 weeks), caused by parvovirus b19 infection Gallstones due to increased bilirubin secretion

601

How is hereditary spherocytosis diagnosed?

Blood film More specific tests are available but rarely required: osmotic fragility, dye binding

602

What is associated with spherocytes that you need to exclude if suspecting hereditary spherocytosis?

Autoimmune haemolytic anaemia - needs to be excluded in the absence of family history using a direct antibody test

603

How is hereditary spherocytosis managed?

Most have a mild chronic haemolytic anaemia for which they need oral folic acid (to increase RBC production) Splenectomy is beneficial but only indicated if poor growth/troubling anaemia (severe tiredness) Aplastic crisis needs 1-2 blood transfusions over 3-4 weeks when no RBCs are produced If gallstones are symptomatic may need cholecystectomy

604

How is splenectomy managed in hereditary spherocytosis?

Usually defer until the age of 7 or older due to risk of post-splenectomy sepsis Prior check Hib, men C, strep pneumoniae vaccines Lifelong daily oral penicillin advised

605

How does herpes simplex usually get into the body?

Mucous membranes or skin

606

What lesions do HSV 1 and 2 cause generally speaking?

HSV1 - lip and skin lesions HSV2 - genital lesions

607

How is hopers simplex infection treated?

Aciclovir, a viral DNA polymerase inhibitor, if severe symptomatic skin, ophthalmic, cerebral and systemic infections

608

What is the most common form of primary HSV illness in children?

Gingivostomatitis

609

What ages does ginggivostomatitis HSV infection commonly affect?

10 months - 3 years

610

What are the features of gingivostomatitis HSV infection?

Vesicular lesions on the lips, gums and anterior surfaces of the tongue and hard palate, which often progress to extensive, painful ulceration with bleeding. High fever and child is miserable. May persist for up to 2 weeks.

611

What is the management for gingivostomatitis?

Symptomatic, but severe disease may need IV fluids and aciclovir (eating ad drinking painful)

612

What are the potential types of skin manifestations of HSV?

Cold sores (recurrent HSV1 lesions on lip margin) Eczema herpeticum (serious condition where widespread vesicular lesions develop on eczematous skin; may be complicated by secondary bacterial infection which may result in septicaemia) Herpetic whitlows

613

What are herpetic whitlow and what causes them?

Painful, erythematous, oedematous white pustules on the site of broken skin on the fingers. Spread by auto-inoculation from gingivostomatitis and infected adults kissing their children's fingers. IN sexually active adolescents, HSV2 may be the cause

614

What kind of eye disease can HSV cause?

Blepharitis or conjunctivitis Can extend to involve the cornea, producing dendritic ulceration which can lead to corneal scarring and loss of vision

615

When do you need to examine a child with HSV infection''s eyes under a slit lamp?

Any herpetic lesions near or involving the eye

616

What kind of infection does HSV cause in neonates?

Focal affecting skin or eyes or encephalitis or may be widely disseminated - morbidity and mortality are high

617

What kind of infection does HSV cause in an immunocompromised host?

May be severe - cutaneous lesions may spread to adjacent sites e.g. oesophagitis and proctitis/ Pneumonia and disseminated infections involving multiple organs are serious complications

618

Which is more common, HHV6 or HHV7?

HHV6

619

What kind of infection does HHV6/7 classically cause?

Exanthem subitem (= roseola infants) High fever with malaise lasting a few days followed by a generalised macular rash which appears as the fever wanes

620

Other than exanthem subitem, what does HHV6/7 commonly cause?

Febrile convulsions

621

What are the rare consequences of HHV6/7 infection?

Aseptic meningitis Encephalitis Hepatitis Infectious mononucleosis-like syndrome

622

What are the routes of HIV infection to children?

Motto child transmission (intrauterine, intrapartum, post partum) Rarely transmitted through infected blood products, contaminated needles or through child sexual abuse

623

How do you diagnose HIV in children?

>18 months - detection of antibodies to the virus

624

What is the clinical course of HIV in children?

A proportion will rapidly progress to symptomatic disease and onset of AIDS in the first year. Others remain asymptomatic for months/years

625

How do HIV+ children with mild immunosuppression present?

Lymphadenopathy, parotitis

626

How do HIV+ children with moderate immunosuppression present?

Recurrent bacterial infections, candidacies, chronic diarrhoea, lymphocytic interstitial pneumonitis (may be a response to the HIV infection itself or due to EBV)

627

What are the severe AIDS diagnoses in children?

Opportunistic infections e.g. PCP Severe failure to thrive Encephalopathy Malignancy (rare in children)

628

When should you test for HIV?

Unusual constellations of symptoms (especially if infections) Persistent lymphadenopathy, hepatosplenomegaly, recurrent fever, parotid swelling, thrombocytopenia SPUR: Serious, Persistent, Unusual, Recurrent infections

629

How is HIV in children managed?

Decision to start ARVs based on clinical status and HIV viral load and CD4 count Infants should all start shortly after diagnosis due to higher risk of disease progression Combination of 3-4 drugs Prophlyaxis against PCP with co trimoxazole for HIV+ infants and older children with low CD4 counts Immunisation - not BCG and consider adding influenza, hep A, hep B, varicella zoster MDT management Regular follow up

630

How can you reduce vertical transmission in HIV?

Use maternal antenatal, perinatal and postnatal ARVs to achieve undetectable maternal viral load at time of delivery Avoidance of breastfeeding Active management of labour and delivery to avoid prolonged rupture of the membranes or unnecessary instrumentation Pre labour C section if mother's viral load is detectable near the time of delivery

631

Which group of children is hypoglycaemia most common in ?

Neonates, diabetics

632

What defines hypoglycaemia?

Plasma glucose

633

What are the features of hypoglycaemia?

Sweating Pallor CNS signs: irritability, headache, seizures and coma

634

What are some of the permanent neurological sequelae of hypoglycaemia?

Epilepsy Severe learning disabilities Microcephaly Greatest risk in early childhood

635

Why are infants at such high risk of hypoglycaemia?

High energy requirements and low reserves

636

When should you check a child's glucose level?

Septicaemia or seriously ill Prolonged seizure Altered state of consciousness

637

What tests should you do in hypoglycaemia?

Take samples at the time: Blood - confirm hypo with lab blood glucose then consider: growth hormone, IGF-1, cortisol, insulin, C-peptide, fatty acids, ketones (Acetoacetate, 3-hydroxybutyrate), glycerol, branched chain amino acids, acyl carnitine profile, lactate, pyruvate. First urine after hypoglycaemia: organic acids Consider saving urine and blood for toxicology e.g. salicylate, sulphonylurea

638

What are the causes of hypoglycaemia beyond the neonatal period when fasting and in insulin excess?

Excess exogenous insulin e.g. in DM, given surreptitiously B cell tumours/disorders - persistent hypoglycaemic hyperinsulinism of infancy, insulinoma Drug induced (sulphonylurea) Autoimmune (insulin receptor antibodies) Beckwith syndrome

639

With are the causes of hypoglycaemia beyond the neonatal period when fasting and without hyperinsulinaemia?

Liver disease Ketotic hypoglycaemia of childhood Inborn errors of metabolism e.g. glycogen storage disorders Hormonal deficiency: GH, ACTH, Addison's disease, congenital adrenal hyperplasia

640

What are the causes of hypoglycaemia beyond the neonatal period when reactive/non fasting?

Galactosaemia Leucine sensitivity Fructose intolerance Maternal diabetes Hormonal deficiency Aspirin/alcohol poisoning

641

What's the treatment for hypoglycaemia?

IV infusion of glucose - 2ml/kg 10% dextrose followed by 10% dextrose infusion, avoid giving an excess volume as the solution is hypertonic and could cause cerebral oedema If delay in establishing infusion failure to respond give glucagon IM (0.5-1.0mg) If a higher concentration than 10% is needed in a neonate then highly likely to be secondary to hyperinsulinaemia Corticosteroids can be used if there is a chance of hypopituitarism or hypoadrenalism

642

How common is cystic fibrosis in Caucasians?

In Caucasians:

1:2500 live births

1:25 carrier rate

643

What is the cause of cystic fibrosis?

Mutation of the cystic fibrosis transmembrane conductance regulator gene on chromosome 7; most frequent mutation is delta F508

644

What is CFTR?

Cyclic AMP dependent chloride channel found in the membrane of cells

645

What are the pathophysiological features in cystic fibrosis?

  • Reduction in airway surface liquid layer -> impaired ciliary function -> retention of mucopurulent secretions
  • Chronic endobronchial infections
  • Dysregulation of inflammation and defence against infection
  • Intestine: thick viscid meconium -> meconium ileus in 10-20%
  • Pancreatic ducts become blocked -> pancreatic enzyme deficiency and malabsorption
  • Abnormal sweat gland function -> excessive sodium and chloride in sweat

646

How is cystic fibrosis usually diagnosed?

Newborn screening

647

What are the features of cystic fibrosis in infancy?

  • Meconium ileus in newborn period
  • Prolonged neonatal jaundice
  • Failure to thrive
  • Recurrent chest infections
  • Malabsorption
  • Steatorrhoea

648

What are the features of cystic fibrosis in young children?

  • Bronchiectasis
  • Rectal prolapse
  • Nasal polyp
  • Sinusitis

649

What are the features of cystic fibrosis in older children/adolescents?

  • Allergic bronchopulmonary aspergillosis
  • Diabetes mellitus
  • Cirrhosis and portal hypertension
  • Distal intestinal obstruction (DIOS, meconium ileus equivalent)
  • Pneumothorax or recurrent haemoptysis
  • Sterility in males

650

What is the test for cystic fibrosis?

Sweat test: confirms the concentration of hcloride in sweat is elecated

  • 60-125 mmol/l in CF, 10-40 if normal
  • Sweating is stimulated by pilocarpine iontophoresis and you need to ensure you have a large enough sample

651

What confirms a diagnosis of cystic fibrosis following a sweat test?

Testing for gene abnormalities in the CFTR protein (homozygote with 2 identified mutations)

652

How are the respiratory problems of cystic fibrosis managed?

  • Monitor: symptoms for younger children, spirometry (FEV1) for older)
  • Physiotherapy at least twice a day (younger: chest percussion and postural drainage, older: controlled deep breathing exercises)
  • Encourage exercise
  • Continuous proplyactic Abc (usually fluclox) recommended by some
  • Rescue antibiotics when lung function decreases
  • Daily nebulised antipseudomonal Abx if chronic pseudomonas (associated with rapid decline in lung function)
  • Nebulised DNAse or hypertonic saline to decrease sputum viscosity
  • Regulat azithromycin decreases exacerbations
  • More severe disease needs regular IV antibiotics and possibly a portacath

653

How is end-stage lung function managed in cystic fibrosis and what is the prognosis?

Bilateral sequential lung transplant - survival is >50% after 10 years

654

How is cystic fibrosis managed nutritionally?

  • Oral enteric coated pancreatic replacement therapy with all meals and snacks
  • High calorie diet +/- overnight feeding via a gastrostomy (~150% of normal)
  • Most need fat-soluble vitamin supplements

655

What are some considerations for management of teenagers and adults with cystic fibrosis?

  • Diabetes is most common complication
  • Up to 1/3 have liver disease - but liver transplant is very successful in CF related liver failure
  • Oral gastrograffin for DIOS
  • Often segregated and advised not to socialise with other people wtih CF due to concerns about transmitting virulent infections between them
  • Women usually have normal fertility; men often can use ICSI to concieve
  • Lots of psychological support
  • Gene therapy is a hope for the future

656

How does CF screening work?

All UK newborns screened in Guthrie test, which measures immunoreactive trypsinogen, raised in CF patients.  Samples then screened for 2 CF mutations.  Those with 2 mutations have the sweat test.

657

If parents have a child with CF and want to have another child, what should they be advised about the risk?

1/4 risk of recurrence but prenatal diagnosis is available and early identification allows early treatment.

658

What is bronchiectasis?

A permanent dilatation and thickening of the airways characterised by chronic cough, excessive sputum production, bacterial colonisation and recurrent acute infections

659

What are the types of bronchiectasis?

  • Cylindrical: bronchi are enlarged and cylindrical
  • Varicose: bronchi are irregular with areas of dilatation and constriction
  • Saccular or cystic: dilated bronchi form clusters of cysts (most severe and found in CF)

660

What are the causes of bronchiectasis?

  • No cause found in ~25%
  • Post-infection (most common)
  • Immunodeficiency including HIV
  • Connective tissue diseases
  • Asthma
  • Allergic bronchopulmonary aspergillosis
  • Gastric aspiration
  • Congenital defects:
    • Cystic fibrosis
    • Kartagener's syndrome (primary ciliary dyskinesia)
    • Alpha-1-antitrypsin deficiency
    • Yellow nail syndrome
  • Bronchial obstruction by lymphadenopathy, tumour or inhaled foreign body
  • Inflammatory bowel disease

661

What are the symptoms of bronchiectasis?

  • Productive cough - can be intermittent or daily large volumes
  • Nonspecific respiratory symptoms - dyspnoea, chest pain, haemoptysis
  • Can progress to respiratory failure and cor pulmonale

662

What are the signs of bronchiectasis?

  • Coarse crackles
  • Large airway rhonchi
  • Wheeze
  • Clubbing

663

In which children should you have a high index of suspicion of bronchiectasis?

Any child with chronic respiratory symptoms such as:

  • Persistent lung crackles
  • Chronic cough
  • Asthma not responding to treatment

664

What investigations should you do in bronchiectasis and what would they show?

  • Chest X ray which may be:
    • Normal
    • Ring or tubular opacities, tramlines and fluid levels
  • Gold standard = HRCT of the chest
    • Bronchial dilatation +/- bronchial wall thickening
    • Severity on HRCT correlates with measures of airflow obstruction
  • Sputum microbiology
  • Blood tests for infection/comorbidity
  • Immune function tests
  • Tests for causes e.g. CF, gastric reflux
  • Lung function tests
  • Bronchoscopy if affects a single lobe (exclude foreign body)

665

What is the aim of treatment in bronchiectasis?

You can't repair the damaged lung so the aim is to prevent or slow further deterioration

666

How is bronchiectasis managed?

  • Treat underlying cause/comorbid medical problems
  • General measures:
    • Healthy diet and exercise with adequate energy intake
    • Immunisation against influenza and pneumococcus
  • Physiotherapy: airway clearance techniques and exercise
  • Drug treatment
    • Abx for acute exacerbations
    • Amoxicillin or clarithromycin and send off a sputum sample first
    • Can consider long term oral Abx
    • Bronchodilators if responsive (beta 2 agonist or anticholinergics)
    • Oxygen therapy
  • Surgery
    • Lung resection if localised and symptoms not controlled by medications
    • Bronchial artery embolisation +/- surgery for massive haemoptysis
    • Lung transplant if end stage

667

What are the complications of bronchiectasis?

  • Repeated infection and deteriorating lung function
  • Empyema, abscess
  • Pneumothorax
  • Life threatening haemoptysis
  • Respiratory failure
  • Right heart failure
  • Amyloidosis (rare)
  • Significant reduction in life expectancy and reduced quality of life

668

In what age group is appendicitis uncommon?

<3 years

669

What are the symptoms of appendicitis?

  • Anorexia
  • Vomiting (usually only a few times)
  • Abdominal pain - initially central and colicky but localises to RIF (due to localised peritoneal inflammation)

670

What are the symptoms of appendicitis?

  • Flushed face with oral fetor
  • Low grade fecver 37.2-38 degrees
  • Abdominal pain aggravated by movement
  • Persistent tenderness with guarding in the RIF (McBurney's point)

671

What signs are different with retrocaecal and pelvic appendices in appendicitis?

Retrocaecal appendix: guarding may be absent

Pelvic appendix: may be few abdominal signs

672

What are the differences with appendicitis in preschool children vs older?

  • Diagnosis more difficult particularly early on
  • Faecoliths more common and seen on plain abdo X-ray
  • Perforation may be more rapid as omentum is less well developed and fails to surround the appendix
    • Signs easy to underestimat

673

How can you investigate appendicitis?

  • No lab investigation or imaging is consistently helpful in making the diagnosis
  • May find neutrophilia, raised WCC, white cells in urine
  • USS may support diagnosis: thickened, non-compressible appendix with increased blood flow
    • Can also show complications e.g. abscess, perforation, appendix mass
    • Can exlude other pathology
  • In some centres a diagnostic laparoscopy is available

674

How is appendicitis managed?

  • Appendicectomy
  • 'Complicated appendicitis' = peresence of an appendix mass, abscess, or perforation
  • If generalised guarding consistent with perforation give fluid resus and IV Abx before surgery
  • If a palpable mass in RIF and no signs of generalised peritonitis may try conservative management with intravenous antibiotics and appendicectomy after several weeks/if symptoms progress

675

What are surgical, intra-abdominal causes of acute abdominal pain?

  • Acute appendicitis
  • Intestinal obstruction including intussusception
  • Inguinal hernia
  • Peritonitis
  • Inflamed Meckel diverticulum
  • Pancreatitis
  • Trauma

676

What are medical, intra-abdominal causes of acute abdominal pain?

  • Non-specific abdominal pain
  • Gastroenteritis
  • Urinary tract:
    • Urinary tract infection
    • Acute pyelonephritis
    • Hydronephrosis
    • Renal calculi
  • Henoch-Schonlein purpura
  • Diabetic ketoacidosis
  • Sickle cell disease
  • Hepatitis
  • Inflammatory bowel disease
  • Constipation
  • Recurrent abdoimnal pain of childhood
  • Gynaecological in pubertal females
  • Psychological
  • Lead poisoning
  • Acute porphyria (rare)
  • Unknown

677

What are some extra-abdominal causes of abdo pain?

  • Upper respiratory tract infection
  • Lower lobe pneumonia
  • Torsion of the testis
  • Hip and spine

678

What kind of virus is Hep A and how is it spread?

RNA virus - faecal oral spread

679

Why has the incidence of Hep A fallen?

Socioeconomic conditions have improved

680

What are the features of hepatitis A?

  • May be asymptomatic
  • Majority have a mild ilness and recover clinically + biochemically in 2-4 weeks
  • Some develop prolonged cholestatic hepatitis (which is self limiting) of fulminant hepatitis
  • Chronic liver disease doesn't occur

681

How do you confirm a diagnosis of hep A?

Detecting AgM antibody to the virus

682

How should hep A be managed?

  • No treatment
  • No evidence that bed rest or change of diet is effective
  • Close contacts should be given prophylaxis with Human Normal Immunoglobulin (HNIG) or vaccinated within 2 weeks of onset of illness

683

What are the main features of Henoch Schonlein purpura?

  • Characteristic rash
  • Arthralgia
  • ABdominal pain
  • Glomerulonephritis

684

Describe the rash of Henoch Schonlein purpura?

First clinical feature in 50%.  Symmetrical, over buttocks, extensor surfaces of arms and legs, and the ankles; trunk is spared unless lesions are induced by trauma.  Initially urticarial in some cases, it becomes maculopapular and purpuric, and is palpable.  May recur over several weeks.

685

Describe the nature of the arthralgia in Henoch Schonlein purpura?

Present in 2/3; particularly knees and ankles and periarticular oedema.  No long term damage and usually resolves before the rash goes away

686

What kind of abdominal pain is present in Henoch Schonlein purpura and what are some of the GI complications?

  • Colicky abdominal pain - can give steroids if severe
  • GI petechiae can cause haematemesis and melaena
  • Intussusception
  • Ileus, protein-losing enteropathy, orchitis and occasionally CNS involvement are possible complications too

687

How common is renal involvement in Henoch Schonlein purpura and what are the common forms of renal problems?

  • Common but rarely the first symptom
  • >80% have micro- or macroscopic haematuria or mild proteinuria
  • These usually make a full recovery

688

What are the potential renal complications of Henoch Schonlein purpura and how is this managed?

  • If proteinuria is severe, nephrotic syndrome may result
  • Risk factors for progressive renal disease: heavy proteinuria, oedema, hypertension, deteriorating renal function
  • Renal biopsy should be done if function is deteriorating, which guides if treatment is needed
  • All children with renal involvement are followed up for 1 year to detect the 5-10% who have persistent abnormalities
  • Those with persistent problems need long term follow up as hypertension and declining renal function can develop after an interval of a few years

689

When, and in whom, does Henoch Schonlein purpura usually occur?

Ages 3-10

Boys:girls 2:1

Peaks in winter

Often preceded by URTI

690

What is the cause/pathophysiology of Henoch Schonlein purpura?

Cause unknown but the theory is that genetic predisposition and antigen exposure increase circulating IgA levels and disrupt IgG synthesis.  IgA and IgG interact to produce complexes that activate complement and are deposited in affected organs, precipitating an inflammatory response with vasculitis

691

What is will the following CSF results be if the CSF is normal?

  • Appearance
  • White blood cells
  • Protein
  • Glucose

  • Appearance - clear
  • White blood cells - 0-5 per mm3
  • Protein - 0.15-0.4g/L
  • Glucose - ≥50% of blood

692

What will the following CSF results be if there is bacterial meningitis?

  • Appearance
  • White blood cells
  • Protein
  • Glucose

  • Appearance - tubrid
  • White blood cells - polymorphs ++
  • Protein - ++
  • Glucose - low (--)

693

What will the following CSF results be if there is viral meningitis?

  • Appearance
  • White blood cells
  • Protein
  • Glucose

  • Appearance - clear
  • White blood cells - lymphocytes + (may initially be polymorphs)
  • Protein - normal or slightly raised
  • Glucose - normal or slightly low

694

What will the following CSF results be if there is tuberculosis?

  • Appearance
  • White blood cells
  • Protein
  • Glucose

  • Appearance - turbid/clear/viscous
  • White blood cells - lymphocytes high
  • Protein - very high
  • Glucose - very low

695

What will the following CSF results be in encephalitis?

  • Appearance
  • White blood cells
  • Protein
  • Glucose

  • Appearance - clear
  • White blood cells - normal/lymphocytes raised
  • Protein - normal/slightly raised
  • Glucose - normal/slightly low

696

Which developmental milestones in the following domains ought a child to have reached as a newborn?

  • Gross motor
  • Fine motor, vision
  • Hearing, speech and language
  • Social, emotional, behavioural

 

  • Gross motor - symmetrical flexed posture, head lag
  • Fine motor, vision - fixes and follows
  • Hearing, speech and language - stills to voice, stratles to loud noises
  • Social, emotional, behavioural - smiles (6 weeks)

697

Which developmental milestones in the following domains ought a child to have reached at 7-9 months?

  • Gross motor
  • Fine motor, vision
  • Hearing, speech and language
  • Social, emotional, behavioural

 

  • Gross motor - sits without support, crawls
  • Fine motor, vision - palmar grasp, transfers objects hand-to-hand
  • Hearing, speech and language - turns to sound, polysyllabic babble
  • Social, emotional, behavioural - finger feeds, fears strangers, separation anxiety

698

Which developmental milestones in the following domains ought a child to have reached at 1 year?

  • Gross motor
  • Fine motor, vision
  • Hearing, speech and language
  • Social, emotional, behavioural

  • Gross motor - unsteady gait, broad-based
  • Fine motor, vision - pincer grip (10 months), pointing
  • Hearing, speech and language - 2-3 words, understands name
  • Social, emotional, behavioural - drinks from cup, waves

699

Which developmental milestones in the following domains ought a child to have reached at 18 months?

  • Gross motor
  • Fine motor, vision
  • Hearing, speech and language
  • Social, emotional, behavioural

  • Gross motor - walks alone steadily
  • Fine motor, vision - immature pencil grip, random scribble, shape slotting
  • Hearing, speech and language - 6-10 words, points to 2 body parts
  • Social, emotional, behavioural - feeds with spoon, helps with dressing, symbolic play

700

Which developmental milestones in the following domains ought a child to have reached at 2.5 years?

  • Gross motor
  • Fine motor, vision
  • Hearing, speech and language
  • Social, emotional, behavioural

  • Gross motor - runs and jumps
  • Fine motor, vision - draws lines and circles, builds tower of 8 blocks
  • Hearing, speech and language - 3-4 word sentences, understand 2 joined commands
  • Social, emotional, behavioural - parallel play, clean and dry

701

What is a developmental 'red flag' at any age?

Maternal concern, regression of any previously acquired skill

702

What is a developmental 'red flag' at 10 weeks?

Not smiling

703

What is a developmental 'red flag' at 6 months?

  • Persistent primitive reflexes
  • Persistent squint
  • Hand preference
  • Little interest in people, toys or noises

704

What is a developmental 'red flag' at 10-12 months?

  • No sitting
  • No double-syllable babble
  • No pincer grasp

705

What is a developmental 'red flag' at 18 months?

  • Not walking independently
  • Fewer than 6 words
  • Persistent mouthing or drooling

706

What is a developmental 'red flag' at 2.5 years?

No 2-3 word sentences

707

What is a developmental 'red flag' at 4 years?

Unintelligible speech

708

What are the clinical features of DKA?

  • Polyuria, polydipsia, weight loss, preceding
  • Abdominal pain
  • Weakness
  • Vomiting
  • Confusion
  • Dehydration
  • Kussmaul breathing
  • Smell of ketones
  • Lethargy, drowsiness
  • Elevated blood glucose >11
  • Acidaemia <7.3
  • Ketones in urine or blood

709

How do you manage DKA where the child is in shock?

  • Airway +/- NG tube
  • Breathing - give 100% O2
  • Circulation - give 10ml/kg 0.9% saline repeated until circulation is restored, max 3 doses

710

How do you manage DKA where the child is dehydrated >5% weight loss - clinically acidotic and vomiting?

  • IV therapy:
    • Calculate fluid requirements and correct ovre 48 hours
    • 0.9% saline for at elast 12 hours
    • Add KCl 20 mmol every 500ml
    • Insulin 0.1U/kg/hour by infusion after first hour of fluids

711

How do you manage DKA where the child is dehydrated <5% weight loss, clinically well, tolerating fluid orally?

  • Start with sc insulin
  • Give oral fluids
  • If no improvement/blood keontes rising/looks unwell/starts vomiting move to iv therapy

712

What observations should you do while treating a child for DKA?

  • Hourly blood glucose
  • Neurological status at least hourly
  • Hourly fluid input: output
  • Electrolytes 2h after start of IV therapy then 4 hourly
  • 1-2 hourly blood ketone levels

713

What are the warning signs of neurological deterioration in DKA?

  • Headache
  • Irritability
  • Slowering heart rate
  • Reduced sconsious level
  • Specific signs of raised ICP

714

What should you do if you notice signs of neurological deterioration in a child you are treating for DKA?

  • Exclude hypoglycaemia, consider cerebral oedema
  • 5 ml/kg 2.7% saline or mannitol 0.5-1.0g/kg
  • Call senior staff
  • Restrict iv fluids by 1/2
  • Move to ITU
  • CT scan when stabilised

715

How should you adjust your management of DKA once the child's glucose is <14 mmol/L?

  • Add 5% glucose to normal saline
  • Change to 0.45% saline and glucose 5% After 12 hours
  • Continue monitoring
  • Cnosider reducing insulin 0.05/kg/hour but only whne pH >7.3

716

When is a DKA considered to be 'resolved' and what do you do then?

  • Clinically well, drinking well, tolerating food
  • Blood ketons <1.0 mmol/L or pH normal
  • Urine ketones may still be positive
  • Start sc insulin then stop iv insulin 1 hour later

717

What are the features of their colour that put a child into the NICE febrile illness categories?:

  • Green -
  • Amber -
  • Red -

What are the features of their colour that put a child into the NICE febrile illness categories?:

  • Green - normal colour of skin, lips and tongue
  • Amber - pallor reported by parent/carer
  • Red - pale/mottled/ashen/blue

718

What are the features of their activity that put a child into the NICE febrile illness categories?:

  • Green -
  • Amber -
  • Red -

What are the features of their activity that put a child into the NICE febrile illness categories?:

  • Green -
    • Responds normally to social cues
    • Content/smiles
    • Stays awake or awakens quickly
    • Strong normal cry/not crying
  • Amber -
    • Not responding normally to social cues 
    • Wakes only with prolonged stimulation
    • Decreased activity
    • No smile
  • Red -
    • No response to social cues
    • Appears ill to healthcare professional
    • Unable to rouse or if roused does not stay awake
    • Weak, high pitched or continuous cry

719

What are the respiratory features that put a child into the NICE febrile illness categories?:

  • Amber -
  • Red -

What are the respiratory features that put a child into the NICE febrile illness categories?:

  • Amber -
    • Nasal flaring
    • Tachypnoea:
      • >50 aged 6-12 months
      • >40 age >12 months
    • O2 sats ≤95% in air
    • Crackles
  • Red -
    • Frunting
    • Tachypnoea >60
    • Moderate or severe chest indrawing

720

What are the hydration features that put a child into the NICE febrile illness categories?:

  • Green -
  • Amber -
  • Red -

What are the hydration features that put a child into the NICE febrile illness categories?:

  • Green -
    • Normal skin and eyes
    • Moist mucus membranes
  • Amber -
    • Dry mucous membrane
    • Poor feeding in infants
    • CRT ≥3s
    • Reduced urine output
  • Red -
    • Reduced skin turgor

721

What are the fever + additional clinical features that put a child into the NICE febrile illness categories?:

  • Green -
  • Amber -
  • Red -

What are the fever + additional clinical features that put a child into the NICE febrile illness categories?:

  • Green -
    • None of the amber or red signs
  • Amber -
    • Fever for ≥5 days
    • Swelling of a limb or joint
    • Non weight bearing or not using an extremity
    • A new lump > 2cm
  • Red -
    • Age 0-3 months and T ≥38
    • Age 3-6 months and T≥39
    • Non blanching rash
    • Bulging fontanelle
    • Neck stiffness
    • Status epilepticus
    • Focal neurological signs
    • Bile stained vomiting

722

How should you manage a febrile child scoring green on the NICE traffic light system?

  • Test urine for UTI
  • No routine bloods or CXR

723

How should you manage a febrile child scoring amber on the NICE traffic light system?

  • Test urine for UTI AND (unless deemed unnecessary by paediatrician):
  • FBC
  • Blood culture
  • CRP
  • CXR if fever >39 and WBC >20x109/L
  • Consider LP if child is <1 year old

724

How should you manage a febrile child scoring red on the NICE traffic light system?

  • FBC, blood culture, CRP
  • Test urine for UTI
  • Consider CXR, LP, serum electrolytes, blood gas
  • Empirical parenteral antibiotics if:
    • Age <1 months
    • Age <3 months and appears unwell or WCC <5 or >15x109/L
    • Shocked, unrousable, or signs of meningococcal disease

725

Which children can you use the NICE fever traffic light system for and what should you do with children you can't use it for?

All those ≥3 months; for those <3 months with a fever ≥38 degrees, observe in hospital and monitor vital signs

726

Where does Wilm's tumour originate from and who is it commonest in?

Embryonal renal tissue - commonest renal tumour of childhood

>80% present before 5 years of age and rarely seen after 10

727

What are the common + uncommon features of nephroblastoma?

  • Common: large abdominal mass, sometimes incidental finding in a well child
  • Uncommon:
    • Abdominal pain
    • Anorexia
    • Anaemia (haemorrhage into a mass)
    • Haematuria
    • Hypertension
  • 5% have bilateral disease at diagnosis

728

What investigations should be done for nephroblastoma and how is it managed?

  • USS/CT/MRI 
  • Management:
    • Chemotherapy 
    • Delayed nephrectomy after which the tumour is staged
    • Radiotherapy is restricted to those with advanced disease

729

What's the prognosis in nephroblastoma?

Good - more than 80% are cured, cure rate for the 15% with metastatic disease at presentation is >60% but relapse carries poor prognosis

 

730

What are the features of Williams syndrome?

  • Short stature
  • Characteristic facies
  • transient neonatal hypercalcaemia (sometimes)
  • Congenital heart disease (supravalvular aortic stenosis)
  • Mild to moderate learning difficulties
  • Usually sporadic

731

What are the causes of vomiting in infants?

  • GORD
  • Feeding problems
  • Infection
    • Gastroenteritis
    • Resp tract/otitis media
    • Pertussis
    • UTI
    • Meningitis
  • Dietary protein intolerance
  • Intestinal obstruction
    • Pyloric stenosis
    • Atresia
    • Intussusception
    • Malrotation
    • Volvulus
    • Duplication cysts
    • Strangulated inguinal hernia
    • Hirschsprung disease
  • Inborn errors of metabolism
  • Congenital adrenal hyperplasia
  • Renal failure

732

What are the causes of vomiting in preschool children?

  • Gastroenteritis
  • Infection
    • Resp tract/otitis media
    • UTI
    • Meningitis
    • Pertussis
  • Appendicitis
  • Intestinal obstruction
    • Intussusception
    • Malrotation
    • Volvulus
    • Adhesions
    • Foreign body - bezoar
  • Raised ICP
  • Coeliac disease
  • Renal failure
  • Inborn errors of metabolism
  • Torsion of the testis

733

What are the causes of vomiting in school age children/adolescents?

  • Gastroenteritis
  • Infection
    • Pyelonephritis
    • Septicaemia
    • Meningitis
  • Peptic ulcer and H pylori
  • Appendicitis
  • Migraine
  • Raised ICP
  • Coeliac
  • Renal failure
  • DKA
  • Alcohol/drug ingestion or medications
  • Cyclical vomiting syndrome
  • Bulimia/anorexia
  • PRegnancy
  • Torsion of the testis

734

What are the symptoms of rickets?

Bone problems

Seizures (late), neuromuscular, irritability, apnoea, stridor

Craniotables (ping pong ball skull)

Misery

Failure to thrive/short stature

Frontal bossing of skull

Delayed closure of anterior fontanelle

Delayed dentition

Ricketty rosary

Harrison sulcus

Expansion of metaphyses (especially wrist)

Bowing of weight bearing bones

Hypotonia

735

What is rickets?

Failure in mineralisation of growing bone or osteoid tissue

736

What are the causes of rickets?

  • Primary: nutritional, lack of sun, dark skin, maternal vit D deficiency, low calcium, phosphate
  • Intestinal malabsorption., including high phytic acid in diet (e.g. chapattis)
  • Defective 25(OH)D2 production (chronic liver disease)
  • Increased vit D metabolism (enzyme induction by anticonvulsants e.g. phenobarbital)
  • Defective 1,25(OH)2 D3 production (mutations)
  • Target organ vit D resistance

737

What are the diagnostic features of rickets?

  • Diet history
  • Bloods
    • Low or normal calcium
    • Phosphate low
    • Alkaline phosphatase high
    • 25(oh) D2 may be low
    • PTH high
  • X ray of wrist: cupping and fraying of metaphyses nad widened epiphyseal plate

738

How is rickets managed?

 

  • Nutritional rickets: balanced diet, correct predisposing risk factors, administration of vit D3 (cholecalciferol)
  • If compliance problems, give single oral high dose of vit D3 followed by maintenance
  • Healing occurs in 2-4 weeks with lowered ALP, increased vitD and healing on x ray but complete reversal of bony deformities can take years

739

What happens to TSH and thyroxine before/at/after birth?

  • Small amount of thyroxine is transferred from mother to foetus
  • Foetal thyroid produces 'reverse T3' (largely inactive)
  • After birth, a surge in TSH causes more T3 and T4
  • TSH levels fall to normal adult level in 1st week but preterm infants may have normal TSH and low T4 for the first few weeks

740

What are the 2 types of hypothyroidism seen in children?

  • Juvenile hypothyroidism - usually autoimmune, associated with Down/Turner syndromes and carry increased risk of other autoimmune disorders
    • Similar to adult hypothyroid symptoms + short stature, pale puffy eyes with loss of eyebrows, SUFE, learning problems
    • Treat with thyroxine
  • Congenital hypothyroidism - one of the reversibe causes of severe learning difficulty

741

What are the causes of congenital hypothyroidism?

  • Maldescent of the thyroid and athyrosis
    • Commonest sporadic cause - remains as a lingual mass or unilobular small gland
  • Dyshormonogenesis
    • Inborn error of thyroid hormone synthesis; 5-10% cases, consanguinity
  • Iodine deficiency
    • Commonest cause worldwide prevented by iodinated salt
  • TSH deficiency
    • Rare (<1%), associated with panhypopituitarism

742

What are the features of congenital hypothyroidism?

  • Usually asymptomatic and picked up on screening
  • Features get more prominent from 1st month
  • Failure to thrive
  • Feeding difficulties
  • PRolonged jaundice
  • Constipation
  • Pale, cold, mottled dry skin
  • Coarse facies
  • Large tongue
  • Hoarse cry
  • Goitre (occasionally)
  • Umbilical hernia
  • Delayed development

743

How is congenital hypothyroidism treated?

  • Treat early to avoid learning difficulties
  • Intelligence should be normal range if treated
  • Lifelong oral thyroxine replacement titrated to maintain normal growth, TSH and T4 levels

744

What are the initial effects of respiratory and circulatory depression leading to HIE?

  • Respiratory
    • Hypoxaemia
    • Hypercarbia
    • Respiratory acidosis
  • Circulatory
    • Low CO 
    • Decreased tissue perfusion
    • Ischaemia
    • Metabolic acidosis
    • Capillary leak, oedema

745

What are the consequences of HIE?

  • Encephalopathy - abnormal neuro signs, seizures
  • Respiratory failure - persistent pulmonary hypertension of the newborn
  • Myocardial dysfuncion - hypotension
  • Metabolic - hypoglycaemia, hypocalcaemia, hyponatraemia
  • Other organ dysfunction - renal failure, DIC

746

What are the causes of HIE?

  • Most follow a significant hypoxic event before/after during labour e.g.
  • Failure of gas exchange across placenta
  • Interruption of umbilical cord blood flow
  • Inadequate maternal placental pefusion
  • Compromsied foetus; IUGR, anaemia
  • Fialure of cardiorespiratory adaptation at birth

747

What are the grades of HIE?

  • Mild - irritable, hyperventilation
  • Moderate -marked abnormality of tone and movement, cannot feed, may have seizures
  • Severe - no normal spontaneous movements or a response to pain, seizures prolonged or refractory, multi organ failure

748

What is the management for HIE?

  • Resp support
  • aEEG to confirm early encephalopathy or seizures
  • Anticonvulsants
  • Fluid restriction for transient renal impairment
  • Treat hypotension with volume and inotrope support
  • Monitor and treat hypoglycaemia and electrolyte imbalance (especially Ca)
  • Some RCT evidence that mild hypothermia reduces brain damage if started within 6h of birth

749

What's the prognosis for HIE?

  • Mild - can recover completely
  • Moderate - those with normal neuro exam and feeding normally by 2 weeks do very well; if problems persist beyond this unlikely to recover completely
  • Severe - 30-40% mrotality, >80% survivors have neurodevelopmental disabilities

750

What are the features of ITP in children?

  • Destruction of blatelets by anti platelet IgG 
  • Most age 2-10, onset 1-2 weeks after viral infection
  • PEtechiae, purpura +/- superficial bruising and epistaxis/other mucosal bleeding (profuse bleeding uncommon)
  • Intracranial bleed severe but rare complication
  • Dx of exclusion - exclude congenital problems, malignancy (Examine BM if any atypical features or going to use steroids as these will exacerbate if it is ALL), consider SLE
  • Platelets often <10x10^9/L

751

How do you treat ITP?

  • 80% it is self limiting in 6-8 weeks at home
  • Treat if major bleeding or persistent minor bleeding affecting ADLs
  • Oral predisolone
  • IV anti-D
  • IV immunoglobulin
  • Platelet transfusion if life threatening haemorrhage
  • 24h access to hospital and avoid trauma
  • Chronic ITP - platelets still low 6 months after diagnosis, needs specialist are:
    • Rituximab (monoclonal Ab against B lymphocytes)
    • Newer thrombopoietic growth factors
    • Splenectomy if drug treatment fails
    • Screen for SLE

752

What vaccines are given at:

  • Birth
  • 1 month
  • 2 months
  • 3 months
  • 4 months
  • 12-13 months
  • 2,3,4y + school Y1+2
  • 3y4m+
  • 12-13y
  • 13-18y
  • 19-25y

What vaccines are given at:

  • Birth - BCG, hep B if at risk
  • 1 month - hep B
  • 2 months - hep B (if at risk), 5 in 1, PCV, rotavirus, Men B
  • 3 months - 5 in 1, rotavirus, men C
  • 4 months - 5 in 1, PCV, men B
  • 12-13 months - Hep B, PCV, men B, Hib/Men C, MMR
  • 2,3,4y + school Y1+2 - flu
  • 3y4m+ - MMR, 4 in 1
  • 12-13y - HPV for girls
  • 13-18y - 3 in 1, Men ACWY
  • 19-25y - Men ACWY (first time students only)

5 in 1 = diphtheria, tetanus, pertussis, polio, hib

4 in 1 = diphtheria, tetanus, pertussis, polio booster

753

Why is diphtheria vaccination important?

  • Infection causes local disease with membrane formation affecting nose, pharynx, larynx but it CAN cause:
  • Systemic disease with myocarditis and neuro manifestations
  • Vaccination works - eradicated in the UK

754

What is the point of vaccinating against:

  • Hib
  • Polio
  • Pneumococcus
  • HPV
  • BCG

  • Hib: causes invasive disease in young children
  • Polio - some get aseptic meningitis, <1% get paralytic polio
  • Pneumococcal - prevents invasive pneumococcal disease
  • HPV - prevents strains causing up to 70% of cervical cancer
  • BCG - good at preventing disseminated disease, including meningitis, in younger children

755

Which children get Hep B and varicella vaccines?

  • Hep B - children born to surface antigen positive mothers
  • Babies born to highly infectious e antigen positive mothers should also have hep B immunoglobulin at birth
  • Varicella given to siblings of 'at risk' children e.g. those undergoing chemotherapy

756

What is the cause of impetigo and what are its features?

  • Localised, highly contagious, staph or strep skin infection
  • Infants and young children, more common if pre existing skin disease
  • LEsions on face, neck and hands
  • Erythematous macules -> become vesicular/pustular or even bullous
  • Characteristic confluent honey coloured crusted lesions from rupture of vesicles
  • Spreads easily to adjacent areas and other parts of the body due to auto-inoculation of the infected exudate

757

How do you treat impetigo?

  • Topical antibiotics e.g. mupirocin if mild
  • Narrow spectrum systemic Abx e.g. fluclox for more severe cases
  • Broad spectrums have simpler dosing and taste better so better adherence (co amoxiclav, cefaclor)
  • Don't go to school until lesions are dry
  • Can eradicate nasal carriage with nasal cream contianing mupirocin or chlorhexadine + neomycin

758

What kind of inguinal hernia occurs in children?

Almost always indirect and due to a patent processus vaginalis

759

How does inguinal hernia present in children?

  • Boys, premature infants, more common in R side
  • Intermittent swelling in the groin or scrotum on crying/straining
  • Thickened spermatic cord (or round ligament in girls)
  • May present as a firm, tender lump in an unwell child who is vomiting

760

How is inguinal hernia in children managed?

  • If unwell: reduce with opioid analgesia and delay surgery for 24-48 hours to allow resolution of oedema
    • If can't reduce, emergency op to minimise risk of bowel damage and damage to the testis
  • Hernia associated with undescended testis should be operated on early to minimise risk to testis
  • Surgery via inguinal skin crease incition, usually day case except in small infants

761

What are the clues that a child has intussusception and what's the treatment?

  • Bile stained vomiting, going pale and drawing legs up during episodes of coliky pain, redcurrant jelly stool, sausage shaped mass palpable in the abdomen, shock
  • Do an X ray of the abdo +/- abdo USS
  • IV fluid resus
  • Reduction by air insufflation once stable or operative reduction

762

What are the clues in the blood results that a child has iron deficiency anaemia and at what point do they tend to become symptomatic?

6-7g/dL or less usually gives symptoms (same as adults - tired, feeding slowly)

Microcytic, hypochromic anaemia (low MCV and MCH)

Low serum ferritin

763

What defines a diagnosis of juvenile idiopathic arthritis and what are the possible subtypes?

  • Persistent joint swelling >6 weeks duration presenting before 16 years of age in the absence of infection or any other defined cause
  • Subtypes:
    • Polyarthritis >4 joints
    • Oligoarthritis ≤4 joints
    • Systemic (with fever and salmon pink macular rash)
    • Psoriatic
    • Enthesitis related

764

What are some of the possible complications of juvenile itiopathic arthritis?

  • Bone exapnsion from overgrowth -> leg length discrepancy, advancing of bone age, valgus deformity
  • Chronic anterior uveitis
  • Flexion contractures of the joints
  • Growth failure
  • Constitional problems
    • Anaemia of chronic disease
    • Delayed puberty
  • Osteoporosis
  • Amyloidosis

765

How is juvenile idiopathic arthritis managed?

  • NSAIDs and analgesics
  • Joint infections
  • Methotrexate - reduces joint damage if used early
  • Systemic corticosteroids - avoid if possible
  • Cytokine modulcations + immune therapies

766

How mnay children continue to have JIA in adult life?

1/3 will have active disease and significant morbidity from previous inflammation

767

What polymorphism is strongly associated with Kawasaki disease?

ITPKC gene - a negative regulator of T cell activation on chromosome 19

 

Remember it as: I Told Pete Karate's Cool (because it's more common in Japanese people... Karate's Japanese... I think)

768

How is Kawasaki disease managed?

  • Prompt IVIG within 1st 10 days reduces coronary aneurysm
  • Aspirin to reduce risk of thrombosis (until echo at 6 weeks)
  • Antiplatelet aggregation if Plt very high
  • Those with giant coronary artery aneurysms may nee dlong term warfarin and follow up
  • If fever recurs give second dose of IVIG
  • Persistent inflammation and fever may need infliximab, steroids or ciclosporin

769

How many children with Kawasaki disease get coronary artery involvement?

About a 1/3 have them affecte din the first 6 weeks, and this can lead to aneurysm

770

What are the features of Kawasaki disease?

  • Non purulent conjunctivitis
  • Red mucous membranes
  • Cervical lymphadenopathy
  • Rash
  • Red and oedematous palms or soles
  • Peeling of fingers and toes
  • High inflammatory markers, Plt usually rises in 2nd week of illness

771

Where does bilirubin deposit in kernicterus and why does this happen when unconjugated bilirubin exceeds a certain level?

Basal ganglia and brainstem nuclei - happens because unconjugated bilirubin levels exceed the blood's albumin binding capacity.  Free bilirubin is fat solulble so it can cross the blood-brain barrier.

772

What are the features of kernicterus?

  • Acutely: lethargy and poor feeding
  • Severe cases:
    • Irritability
    • Increased muscle tone
    • Arched back position (opisthotonos)
    • Seizures
    • Coma
  • Complications:
    • Choreoathetoid cerebral palsy (basal ganglia damage)
    • Learning difficulties
    • Sensorineural deafness

773

What types of leukaemia are common in children?

80% ALL (children have ALL the fun); 75% of this is common and 15% T cell

Remainder is mostly AML and acute non-lymphocytic leukaemia; CML and all others are rare

 

774

How is leukaemia managed in children?

  • Remission induction
    • Treat anaemia/low Plt/infection with transfusions etc
    • Hydration and allopurinol (or urate oxidase if raised WCC ) to protect renal function
    • Combination chemo for 4 weeks to eradicate leukaemic blasts
  • Intensification
    • Block of intensive chemo to consolidate
    • Increase cure rate by increased toxicity
  • CNS
    • Cytotoxics penetrate CNS poorly, so cancer cells here can survive
    • Hence given additional Rx with intrathecal chemo to prevent CNS relapse
  • Continuing therapy
    • Moderate intensity chemo for up to 3 years from diagnosis
    • Cotrimoxazole prophylaxis for PCP
  • Treatment of relapse: high dose chemo with Total Body Irradiation and BM transplant

775

What are the poor prognostic factors for leukaemia in children?

  • <1 year or >10 years
  • TUmour laod >50x10^9/L
  • Cytogenetic/molecular genetic abnormalities in tumour cells e.. MLL rearrangement, t(4;11), hypodiploidy (<44 chromosomes)
  • Persistence of leukaemic blasts in bone marrow after Rx
  • High levels of submicroscopic leukaemia detected by PCR (Minimal Residual Disease assessment)

776

What is the pathophysiology of malrotation?

  • Mesentery not fixed at duodenal jejunal flexure  or in ileocaecal region -> small bowel's base is shorter than normal during rotation as a foetus -> predisposed to volvulus
  • Ladd bands may cross the duodenum contributing to bowel obstruction

777

What are the clinical features of measles?

  • Rash - spreads downwards from ears to whole of body, discrete maculopapular rash that becomes confluent and blotchy, may desquamate in 2nd week
  • Koplik spots: white spots on buccal mucosa seen against bright red background
  • Conjunctivitis and coryza
  • Cough
  • Fever (peaks day 4-5)

778

What are the possible complications of measles?

  • Encephalitis (1 in 5000)
    • 8 days after onset
    • Headache, lethargy, irritability -> convulsions -> coma
    • Long term seequelae in 40%: seizures, deafness, hemiplegia, learning difficulties
    • 15% mortality
  • Subacute sclerosing panencephalitis (1 in 100,000)
    • 7 years later
    • Rare but devastating, caused by variant of virus that persists in the CNS
    • Loss of neurological function over many years -> dementia -> death
    • Characteristic EEG abnormalities
  • Complications more common if immune response impaired

779

What's the treatment for measles?

  • Isolate if admitting
  • If immunocompromised can give ribavirin
  • Vit A supplement in developing countries

780

What is a meckel diverticulum?

  • Ileal remnant of the vitello-intestinal duct which contains ectopic gastric mucosa or pancreatic tissue
  • Mostly asymptomatic but can present wtih severe rectal bleeding and cause intussusception/volvulus/diverticulitis mimicking appendicitis

781

What are some of the uncommon forms of migraine seen in children?

  • Familial - linked to calcium channel defect, dominantly inherited
  • Sporadic hemiplegic
  • Basilar type - vomiting with nystagmus and/or cerebellar signs
  • Periodic syndromes (often precursors to migraine):
    • Cyclical vomiting: associated with pallor and lethargy, well inbetween
    • Abdominal migraine: episodic midline abdominal pain in bouts lasting 1-72h, may have vasomotor symptoms, nausea and vomiting, well inbetween
    • Benign paroxysmal vertigo of childhood: recurrent brief episodes of vertigo occurring without warning and resolving spontaneously; all exams normal in between

782

What are the common invading organisms in NEC?

  • Stap aureus
  • Group A strep
  • Other synergistic anaerobic organisms

783

How is NEC managed?

  • IV antibiotics
  • Surgical debridement of necrotic tissue
  • +/- IVIG

784

What are the most common/benign reasons for neonatal jaundice?

  • Marked physiological release of haemoglobin from the breakdown of RBCs because of high Hb concentration at birth
  • RBC lifespan of newborns is markedly shorter than that of adults (70 vs 120 days)
  • Hepatic bilirubin metabolism is less efficient in the first few days of life

785

At what bilirubin level do babies become clinically jaundiced?

~80 umol/L

786

What are the causes of jaundice in neonates <24h and how would you differentiate them?

  • Usually from haemolysis - risky as it's unconjugated and can rise rapidly to extreme levels
  • Congenital infection - conjugated bili and other signs e.g. growth restriction, hepatosplenomegaly, thrombocytopenic purpura
  • Spherocytosis - spherocytes on blood film
  • ABO incompatibility - Hb usually normal or slightly reduced, no hepatosplenomegaly, Coombs test positive, peaks 12-72 hours, usually less severe jaundice than rhesus
  • Rhesus haemolytic disease - usually identified antenatally (if not can be born with anaemia, hydrops and hepatosplenomegaly)
  • G6PD deficiency - Med, middle east, Far East, Africa, mainly male infants

787

What are the causes of neonatal jaundice at 2 days - 2 weeks and how would you differentiate them?

  • Physiological - mild/moderate, diagnosis of exclusion
  • Breast milk jaundice - unconjugated
  • Dehydration
  • Infection - unconjugated (poor lfuid intake, haemolysis, reduced hepatic function, increased enterohepatic circulation); UTI in particular can present this way
  • Others: 
    • Late haemolytic jaundice
    • Bruising and polycythaemia (Hct>0.65) will exacerbate jaundice
    • Crigler-Najjar syndrome - deficient/absent gluocoronyl transferase causes extremely high levels of unconjugated bilirubin

788

What are the features of nephrotic syndrome?

  • Heavy proteinuria -> low plasma albumin an doedema
  • Periorbital oedema
  • Scrotal or vulval, leg and ankle oedema
  • Ascites
  • Breathlessness due to pleural effusions and abdominal distension

789

What are some causes of nephrotic syndrome?

Secondary to:

  • HSP
  • Other vasculitides e.g. SLE
  • Infections e.g. malaria
  • Allergens e.g. bee sting

790

What are the characteristics of epidermolysis bullosa?

  • Rare group of genetic conditions
  • Blistering of skin and mucous membranes
  • AD types are milder - recessive are severe, even fatal
  • Blisters can be spontaneous or after minor trauma
  • Digits can fuse and limbs can form contractures
  • Oral ulceration and oesophageal erosions
  • Management is to avoid skin trauma and treat secondary infection

791

What are the characteristics of collodion baby?

  • Manifestation of inherited ichthyoses (dry scaly skin conditions)
  • Taut parchment like or collodion like membrane
  • Needs emollients
  • Membrane becomes fissured and separates within a few weeks leaving ichythyotic or (more rarely) normal skin

792

What syndromes are associated with port wine stain/naevus flammeus?

  • Sturge Weber - if along distribution of trigeminal nerve (intracranial vascular anomalies)
  • Klippel-Trenauny syndrome - severe lesions on limbs with bone hypertrophy

793

What is the treatment of choice for falciparum malaria in the UK and why?

Quinine - because of emergency of chloroquine resistance worldwide

794

What are the characteristics of marasmus?

  • Wasted, wizened
  • No oedema
  • Skinfold thickness and mid arm circumference markedly reduced
  • Often withdrawn and apathetic

795

What are the characteristics of kwashiorkor?

  • PRotein malnturtion - generalised oedema as wellas severe wasting
  • Flaky pain skin rash with hyperkeratosis and desquamation
  • Distended abdo and enlarged liver
  • Angular stomatitis
  • Sparse and depigmented hair
  • Diarrhoea, hypothermia, bradycardia, hypotension
  • Low plasma albumin, potassium, glucose and magnesium

796

How should you manage malnutrtion?

  • Correct hypoglycaemia urgently
  • Prevent hypothermia
  • Correct dehydration but don't be overzealous with IV fluids - risk of cardiac failure
  • Correct electrolyte deficiences especially potassium
  • Infection:
    • Give antibiotics - fever etc may be absent
    • Treat oral candida
  • Micronutrients, including vitamin A
  • Initiate feeding with small volumes frequently, including through the night

797

How do you define severe malnutrition?

  • Weight for height >3SD from the mean
  • Mid upper arm circumference <115mm

798

What are the effects of maternal drug abuse on neonates?

  • Withdrawal:
    • Jitteriness, sneezing, yawning, poor feeding, vomiting, diarrhoea, weight loss and seizures during first 2 weeks of life
  • Cocaine abuse - placental abruption, preterm delivery, cerebral infarction
  • Amphtamine - GI and cerebral infarction
  • Hep B

799

How is maternal drug abuse managed for the neonate?

  • Involve social services and child protection team
  • Hep B vaccine
  • If withdrawal features, admit to neonatal unit and give morphine/methadone/diazepam

800

What are teh consequences of meconium aspiration?

  • Mechanicam obstruction
  • Chemical pneumonitis
  • Predisposition to infection
  • High incidence of air leak leading to pneumothorax and pneumomediastinum
  • Persistent pulmonary hypertension of the newborn

801

What are the causative bacterial organisms of meningitis in children?

  • Neonatal - 3 months:
    • Group B strep
    • E coli and other coliforms
    • Listeria monocytogenes
  • 1 month - 6 years
    • Neisseria meningitidis
    • Strep pneumoniae
    • Haemophilus influenzae
  • >6 years
    • Neisseria meningitidis
    • Strep pneumoniae

802

What are the contraindications to an LP?

  • Cardiorespiratory instability
  • Focal neuro signs
  • Signs of raised ICP: coma, high BP, low HR, papilloedema
  • Coagulopathy
  • Thrombocytopenia
  • Local ifnection at site of LP
  • If causes undue delay in starting antibiotics for meningococcal sepsis

803

How should bacterial meningitis be managed?

3rd generation cephalosporin (e.g. cefotaxime/ceftriaxone), and dexamethasone in children older than neonates with the antibiotic will reduce long term complications such as deafness

804

What are some of the cerebral complications of meningitis?

  • Hearing loss
  • Local vasculitis -> CN palsies
  • Local cerebra linfarction
  • Subdural effusion (associated with Hib)
  • Hydrocephalus
  • Cerebral abscess

805

Who gets prophylaxis when a child has bacterial meningitis and what do they get?

  • Rifampicin
  • Given to all household contacts for meningococcal or Hib meningitis to eradicate naso-pharyngeal carriage
  • Not needed for patient if given 3rd gen cephalosporin
  • Household contacts of those who've had men C should be vaccinated

806

How do you distinguish an irritant nappy rash from an infectious cause?

Irritant eruption characteristically spares the flexures

807

What are the clinical features of necrotising enterocolitis?

  • Stops tolerating feeds
  • Milk aspirated from the stomach
  • May be vomiting (which may be bile stained)
  • Distended abdo
  • Stool sometimes contains fresh blood
  • Infant may rapidly become shocked and require artificial ventilation because of abdominal distension and pain

808

What are the characteristic X ray features of necrotising enterocolitis?

Distended loops of bowel and thickening of the bowel with intramural gas

809

What are the signs of neonatal hypernatraemia?

  • Lethargy
  • Hyperreflexia
  • Hyperthermia
  • Restlessness
  • Spasticity
  • Seizures
  • Skin texture is doughy

810

What are the possible complications of neonatal hypernatraemia?

  • Intracranial haemorrhage
  • Venous sinus thrombosis
  • Acute renal tubular necrosis

811

How should neonatal hypernatraemia be managed?

  • IV 0.9% saline then hypotonic saline (0.3%/0.45%)
  • Severely dehydrated infants need circulating blood volume restored first
  • Avodi rapid fall in osmolality - can cause rapid movement of water into cells and potentially cerebral oedema
  • Extreme hypernatraemia caused by salt poisoning should be treated with peritoneal dialysis

812

Why do neonates get hypocalcaemia?

  • Transient relative hypoPTH can be caused by being preterm/small for age (parathyroid doesn't function well)
  • Infants of mothers with diabetes ofhyperPTH may have higher than normal ionised calcium during pregnancy -> hypocalcaemia at birth
  • Normal phosphaturic renal response to PTH is absent in neonates - elevated phosphate levels leds to hypocalcaemia
  • Late onset hypocalcaemia is usually due to ingestion of cow's milk or formula with a too high phosphate load -> elevated serum phosphate leads to hypocalcaemia

813

What are the signs of neonatal hypocalcaemia?

  • Hypotonia
  • Tachycardia
  • Tachypnoea
  • Apnoea
  • Poor feeding
  • Jitteriness
  • Tetany
  • Seizures

814

What ECG sign signifies neonatal hypocalcaemia?

Prolonged QTc

815

How do you treat neonatal hypocalcaemia?

  • Early onset - IV 10% calcium gluconate
    • Usually resolves in a few days, don't need it if mild and asymptomatic
    • Slow infusion - too fast will cause bradycardia
    • Watch IV side as tissue ifniltration is irritant and can cause necrosis/radial nerve damage
  • Late onset: oral calcitriol or calcium
    • 4:1 molar ratio of calcium: phosphate until normal calcium levels maintained
    • High sucrose contect in preparations - can cause diarrhoea in preterm infants

816

What are the risk factors for neonatal hypoglycaemia?

  • Intrauterine growth restriction
  • Preterm
  • Born to mothers with diabetes mellitus
  • Large for dates
  • Hypothermic
  • Polycythaemic
  • Ill for any reason

817

What are the symptoms of neonatal hypoglycaemia?

  • Jitteriness
  • Irritability
  • Apnoea
  • Lethargy and drowsiness
  • Seizures

818

What glucose level is optimal in neonates for developmental outome?

>2.6 mmol/L

819

How is neonatal hypoglyacemia managed?

  • If asyptomatic but 2 low values (<2.6) or one very low value (<1.6) or symptomatic, give glucose by IV infusion to maintain >2.6
  • Concentration of IV dextrose may need to be increased from 10% to 15 or even 20%
  • Abnormal blood glucose results should be confirmed by the lab
  • High conc IV infusions should be given by a central venous catheter to avoid extravasation itno tissues, which can cause skin necrosis and reactive hypoglycaemia
  • If difficulty/delay in starting infusion or satisfactory response isn't avhieved, glucagon or hydrocortisone may be given

820

What are the features of conjugated hyperbilirubinaemia in neonates and what might cause it?

  • Passing dark urine and unpigmented pale stools, hepatomegaly, poor weight gain
  • Causes: neonatal hepatitis syndrome, biliary atresia

821

What are the 2 main treatments for neonatal jaundice?

  • Phototherapy
    • Light converts unconjugated bilirubin into a harmless water soluble pigment excreted primarily in the urine
    • No long term sequelae but is disruptive to normal nursing
    • Eyes are covered to keep them comfortable
    • Can result in: temp instability, macular rash, bronze discolouration of skin if conjugated
  • Exchange transfusion
    • If dangerous levels
    • Blood removed in small aliquotes from arterial line or umbilical vein and replaced with donor blood
    • Twice the infant's blood volume is exchanged
    • Some morbidity/mortality risk but blood is screened for infections and should be as fresh as possible
    • Rhesus haemolytic disease or ABO incombatibility unresponsive to phototherapy - IVIG reduces need for exchange transfusion

822

What is the morbidity and mortality of neonatal meningitis?

20-25% mortality

1/3 of survivors will have serious sequelae

823

What are the late signs of meningitis seen in newborns?

Tense or bulging fontanelle

Head retraction (opisthonos)

824

What is the treatment for neonatal meningitis?

  • Ampicillin or penicillin
  • 3rd gen cephalosporin  e.g. cefotaxime, which has good CNS penetration

825

What are the possible complications from neonatal meningitis?

  • Cerebral abscess
  • Ventriculitis
  • Hydrocephalus
  • Hearing loss
  • Neurodevelopmental impairment

826

What defines neonatal polycthaemia and what can cause it?

  • Venous haematocrit ≥65% - don't take a capillary haematocrit as this can overestimate
  • Intrauterine hypoxia, perinatal asphyxia, certain delivery procedures
  • Placental transfusion
  • Congenital abnormalities
  • Maternal IDDM
  • Downs/other trisomies
  • Beckwith-Wiedemann syndrome
  • IUGR
  • Mother at hight altitude

827

What are the features of neonatal polycythaemia?

  • Heart failure
  • Thrombosis (Cerebral and renal vessels)
  • CNS dysfunction: tachypnoea, resp distress, cyanosis, plethora, apnoea, lethargy, irritability, hypotonic, tremulousness, seizures, feeding problems
  • Renal vein thrombosis can -> renal tubular damage, proteinuria

828

How is neonatal polycythaemia treated?

  • If asyptomatic - IV hydration
  • If symptomatic - partial exchange transfusion
    • Blood removed in aliquots and replaced with 0.9% saline
    • 'Isovolaemic haemdilution'
    • Long term benefits controversial

 

829

What are the causes of neonatal seizures?

  • HIE
  • Cerebral infarction
  • Septicaemia/meningitis
  • Metabolic
    • Hypoglycaemia
    • Hypo/hypernatraemia
    • Hypocalcaemia
    • Hypomangesaemia
    • Inborn errors of metabolism
    • Pyridoxine deficiency
  • Intracranial haemorrhage
  • Cerebral malformations
  • Drug withdrawal e.g. maternal opiates
  • Congenital infection e.g. HSV encephalitis
  • Kernicterus

830

What are the main causative organisms of neonatal sepsis and how can you differentiate them?

  • Group B strep - late onset meningitis, focal infection, commonly carried (so no back story)
  • Listeria - spontaneous abortion, preterm delivery, milk, soft cheeses, undercooked poultry, meconium staining, rare but serious
  • Conjunctivitis - chlamydia trachomatis (erythromycin), staph or strep (neomycin). meconium staining, rash, purulent discharge and swelling = gonococcal, if no clue to organism give 3rd gen ceph
  • Herpes - primary genital infection in mother, encephalitis, herpetic lesions, maternal aciclovir + C section to prevent
  • Gram negatives - early or late onset (from mother or from central vneous lines, seeding from intestines)
  • Umbilicla infection - if skin around is inflamed give systemic abx, silver nitrate
  • Hep B - vaccinate at birth if mother is HbsAg+, immunoglobulin too if HbeAg 

831

Where does neuroblastoma arise from?

Neural crest tissue in the adrenal medulla and sympathetic nervous system

832

When is neuroblastoma most common?

In under 5's

833

What are the common and uncommon presenting features of neuroblastoma?

  • Common
    • Pallor
    • Weight loss
    • Abdominal mass
    • Hepatomegaly
    • Bone pain
    • Limp
  • Less common
    • Paraplegia
    • Cervical lymphadenopathy
    • PRoptosis
    • Periorbital bruising
    • Skin nodules
  • Primary tumour can be anywhere along sympathetic chain - tumour mass often large and complex at presentation, crossing the midline 

834

What investigations should be done for neuroblastoma?

  • Urinary catecholamines (raised)
  • Confirmatory biopsy
  • Evidence of metastatic disease obtaine dby bone marrow biopsy, MIBG (metaiodobenzylguanidine) scan +/- bone scan

835

What are the poor prognostic factors in neuroblastoma?

  • Advanced disease at presentation
  • Overexpression of n-myc oncogene
  • Evidence of deletion of material on chromosome 1 (del1p)
  • Gain of genetic material on chromosome 17q in tumour cells

836

How is neuroblastoma managed?

  • Localised primaries without metastatic disease: surgery alone
  • Metastatic disease:
    • Chemotherapy including high dose therapy with autologous stem cell rescue, surgery and radiotherapy
    • Risk of relapse high
    • Prospect of cure just over 30%
    • Immunotherapy and use of long term maintenance therapy now being used

837

How do you distinguish between a nightmare and a night terror?

Nightmare can be recalled

Night terrors - doesn't remember anything the next day, parents find child sitting up, etyes open, apparently awake but disorientated, confused, distressed, unresponsive to questions/reassurance

838

How is nocturnal enuresis managed?

  • Explanation
  • Star chart
  • Enuresis alarm
  • Desmopressin
  • Self help groups e.g. Enuresis Resource and Information Centre, ERIC

839

What are the features of noonan syndrome?

  • Characteristic facies - triangular face etc
  • Occasional mild learning difficulties
  • Short webbed neck with trident hair line
  • Pectus excavatum
  • Shor tstature
  • Congenital heart disease (especially pulmonary stenosis, atrial septal defect)
  • Mutation in an autosomal dominant gene
  • Karyotype normal

840

How is overweight and obesity defined in children under 12?

Overweight if >91st centile, ovese if >98th; very severe obesity is >3.5 SDs from mean, extreme is >4

841

What are the causes of obesity in children that you should exclude?

  • Hypothyroidism
  • Cushings
  • Syndromes e.g. Prader Willi
  • Leptin deficiency if severely obese under 3y

842

What are the possible complications of childhood obesity?

  • Ortho: SUFE, tibia vara, abnormal foot structure
  • Idiopathic intracranial hypertension
  • Hypoventilation syndrome (daytime somnolescence, sleep apnoea, snoring, hypercapnia, heart failure)
  • Gallbladder disease
  • PCOS
  • T2DM
  • Abnormal blood lipids
  • Asthma
  • Changes in LV mass
  • Increased risk of malignancy
  • Psychological problems

843

How is childhood obesity managed?

  • Weight maintenance is more realistic than weight reduction
  • Lifestyle change: low sugar, reduce portion size, increase protein and low carb veg, family meals, at least 60 mins moderate activity each day, reduce leisure time physical inactivity to <2h/day
  • Drugs: if >12, extreme obesity, BMI ≥35, or complications
    • Only after lifestyle modification
    • Orlistat (lipase inhibitor)
    • Metformin increases insulin sensitivity, decreases gluconeogenesis and GI sugar absorption
  • Bariatric surgery as a last resord
    • Lap gastric band most appropriate

844

What is oesophageal atresia associated with?

  • Tracheo-oesophageal fistula and polyhydramnios on its own
  • 1/2 have other congenital abnormalities e.g. as part of VACTERL
    • Vertebral
    • Anorectal
    • Cardiac
    • Tracheo-Oesophageal
    • Renal
    • radial Limb

845

What are the features of undiagnosed oesophageal atresia?

  • Persistent salivation and drooling from the mouth after birth
  • If not diagnosed the infant will cough and choke when fed, and have cyanotic episodes
  • May aspirate saliva or milk and acid secretions from the stomach into the lungs

846

How do you diagnose and manage oesophageal atresia?

  • If suspected, pass a wide calibre feeding tube and check with X ray to see if it reaches the stomach
  • Often diagnosed at birth
  • Management: continuous suction applied to a tube passed into the oesophageal pouch to reduce aspiration of saliva and secretions pending transfer to a neonatal surgical unit

847

What is Osgood-Schlatter disease and what are its characteristic features?

  • Osteochondritis of the patellar tendon insertion at the knee
  • Often affects adolescent males who are physically active (football/basketball in EMQs)
  • Features:
    • Knee pain after exercise
    • Localised tenderness
    • Sometimes swelling of the tibial tuberosity
    • Often hamstring tightness
    • Bilateral in 20-50%
  • May resolve with reduced activity and physio, occasionally orthois, knee immobiliser splint may help

848

What is osteomyelitis and what are the most common sites for it?

Infection of metaphysis of long bones - most commonly distal femur and proximal tibia

849

What pathogens cause osteomyelitis most commonly?

  • Staph aureus (most)
  • Streptococcus
  • Haemophilus influenzae (if not immunised)
  • In sickle cell: increased risk of stpah and salmonella osteomyelitis

850

What are the X ray findings in osteomyelitis?

  • Initially normal +/- soft tissue swelling
  • 7-10 days: subperiosteal new bone formation and localised bone rarefaction become visible
  • Chronic: periosteal reaction, multiple hypodense areas in metaphyseal regions

851

What are the clinical features of osteomyelitis?

  • Markedly painful, immobile limb (pseudoparesis) in a child with acute febrile illness
  • Swelling, exquisite tenderness +/- erythema and warmth over infected site
  • Moving limb causes severe pain
  • May have sterile effusion of adjacent joint
  • In infants, swelling or reduced limb movement is initial sign
  • Occasionally multiple foci if disseminated

852

How is osteomyelitis treated?

  • Parenteral antibiotics for several weeks
  • Once clinical recovery and acute phase reactants are normal, convert to oral for several weeks
  • Aspiration or surgical decompression of the subperiosteal space if presentation atypical/immunodeficiency
  • Surgical drainage if doesn't rapidly respond to antibiotics
  • Affected limb initially rested in a splint then mobilised

853

What are the possible complications of osteomyelitis?

  • Bone necrosis
  • Chronic infection with discharging sinus
  • Limb deformity
  • Amyloidosis

854

Which organisms cause otitis media?

  • Viruses: RSV and rhinovirus
  • Bacteria:
    • Pneumococcus
    • Non typable H influenzae
    • Moraxella catarrhalis

855

How is otitis media treated?

  • Regular (not intermittent) analgesia for up to 1 week (paracetamol or ibuprofen)
  • Most cases resolve spontaneously
  • Abx marginally shorted duration of pain but don't reduce risk of hearing loss so give script for amoxicillin and tell them only to use it if the child is still sick in 2-3 days
  • If recurrent, investigate = tympanometry, audiometry, consider grommets or adenoidectomy

856

What is the problem in interruption of the aortic arch?  How does it present and what should be done about it?

  • No connection between proximal aorta and distal to the arterial duct so cardiac otuput is dependent on a right to left shunt via the duct
  • Presents with shock in the neonatal period, usually a VSD is present and it is associated with other conditions e.g. DiGeorge
  • Complete correction with closure of the VSD and repair of the aortic arch within fist few days of life

857

What is the problem in hypoplastic left heart syndrome and how does it present?  What's the treatment?

  • Underdevelopment of the entire left side of the heart
    • Mitral valve small/atretic
    • LV diminutive
    • Aortic valve atresia
    • Small ascending aorta
    • Coarctation of the aorta
  • No flow thorugh the L side of the heart -> ductal constriction causes profound acidosis and rapid cardiovascular collapse
  • Sickest of all neonates with duct dependent systemic ciruclation
  • May be detected antenatally
  • Weakness or absence of all peripheral pulses
  • Treatment is surgical:
    • Norwood proceudre noenatally
    • Glenn/hemi Fontal at 6 months
    • Fontan at 3 years

858

WHat is hte problem in coarctation of the aorta?  How does it present and what's the management?

  • Wrterial duct tissue encircles the aorta at the point of insertion to the duct
  • When the duct closes, the aorta constricts -> severe obstruction to LV outflow
  • Examination on 1st day is usually normal, then presents with acute ciruclatory collapse at 2 days (commonest cause of collapse due to LV outflow obstruction)
  • signs: sick baby with severe heart failure, severe metabolic acidosis, absent femoral pulses
  • ECG normal
  • CXR shows cardiomegaly from heart failure and shock
  • Surgical repair needed soon after diagnosis

859

What diseases does parvovirus B19 cause?

  • Slapped cheek/Fifth disease, Erythema infectiousum
  • Asyptomatic infection commonly
  • Erythema infectiousum
    • Viraemic phase of fever, malaise, headache, myalgia
    • Then 'slapped cheek' rash on face
    • Progresses to maculopapular 'lace like' rash on trunk and limbs
    • Complicatoins rare in kids (arthralgia/arthritis common in adults)
  • Aplastic crisis 
    • Most serious consequence
    • Occurs in children with chronic haemolytic anaemias with increased red cell turnover (sickle cell, thalassaemia) and if immunodeficiency
  • Fetal disease
    • May lead to fetal hydrops and death due to severe anaemia
    • BUT most infected fetuses will recover

860

How are head lice treated?

  • Solution of 0.5% malathion to the hair and leave overnight
  • Shampoo
  • Remove lice and nits with a fine tooth comb
  • Repeat a week later
  • Permethrin (1%) is an alternative which is left on for 10 minutes only
  • Wet combing to remove live lice every 3-4 days for 2 weeks is a useful and safe physical treatment

861

What are the causative organisms of periorbital cellulitis?

  • Young/unimmunised: Hib
  • Otherwise staph/strep

862

What are the features of orbital cellulitis?

  • Proptosis
  • Painful/limited ocular movement
  • Reduced visual acuity
  • Can be complicated by abscess formation, meningitis, cavernous sinus thrombosis

863

What does the ductus arteriosus connect?

Pulmonary artery to descending aorta

864

What are the features of PDA?

  • Left to right shunt
  • Most present with a continuous machinery murmur beneath the left clavicle
  • Continues into diastole because the pressure in the pulmonart artery is lower than in the aorta throughout
  • Increased pulse pressure - collapsing/bounding pulse
  • Symtoms unusual but if the duct is large there will be increasd pulmonary blood flow with pulmonary hypertension and heart failure
  • Needs closing with coil/occlusive device at ~1 year via cardiac catheter (rarely surgery)

865

What is the pathophysiology of Perthes disease and how does it present?

  • Avascular necrosis of the capital femoral epiphysis of the femoral head due to interruption of the blood supply, followed by revascularisation and reossification over 18-36 months
  • Presents in boys 5-10 years with insidious onset limp, hip or knee pain; can be bilateral
  • X-ray: increased density in femoral head -> fragmented and irregular

866

How is Perthes disease managed & what's the prognosis?

  • Early + <50% femoral head afffected - bed rest and traction
  • More severe/later - femoral head needs to be covered by acetabulum to act as a mould for the re ossifying epiphysis; maintain the hip in abduction with plaster or caplipers, or femoral or pelvic osteotomy
  • Mostly good prognosis especially if <6 years and <50% epiphysis involved
  • Deformity of femoral head and metaphyseal damage a risk
  • Potential for subsequent degenerative arthritis in later life

867

How do you diagnose and manage pertussis?

  • Culture from per nasal swab or PCR more sensitive
  • Marked lymphocytosis >15x10^9/L on blood count is characteristic
  • Erythromycin eradicates the organism but only decreases symptoms if started in the catarrhal phase
  • Erythromycin prophylaxis for close contacts
  • Vaccinate if unvaccinated infant contacts

868

How good is the pertussis vaccine?

Not great.  Reduces risk of developing pertussis and severity of disease in those affected but doesn't guarantee protection and the level of protection declines steadily during childhood

869

What are the common pathogens to cause pharyngitis?

  • Viruses: adenovirus, enterovirus, rhinovirus
  • In older children, group A beta haemolytic strep is common

870

What are the common pathogens to cause tonsilitis?

Group A beta haemolytic strep

EBV

871

How is pharyngitis/tonsilitis treated?

  • Antibiotics - penicillin, erythromycin if allergic - for severe disease
  • Severe cases may need admission for IV fliuds and analgesia if they can't swallow solids or liquids
  • Amoxicillin best avoided as can cause wide spread maculopapular rash if tonsilitis is due to infectious mononucleosis
  • Indications for tonsillectomy:
    • Recurrent sevre tonsilitis
    • Peritonsillar abscess (quinsy)
    • Obstructive sleep apnoea (adenoids often also removeD)

872

What are the causative organisms for pneumonia?

  • Newborns - from mother's genital tract
    • Group B strep
    • Gram negative enterococci
  • Infants and young children
    • Resp viruses, especially RSV
    • Bacteria: strep pneumoniae, Hib, bordatella pertussis, chlamydia trachomatis
    • Rare but serious: staph aureus
  • Children >5:
    • Mycoplasma pneumoniae
    • Strep pneumoniae
    • Chlamydia pneumoniae

873

How is pneumonia managed?

  • Most managed at home
  • Admit if:
    • O2 sats <93%
    • Severe tachypnoea
    • Difficulty breathing
    • Grunting, apnoea
    • Not feeding
    • Family unable to provide appropraite care
  • General supportive care: oxygen, analgesia, fluids
  • Antibiotics:
    • Newborns: broad spectrum IV
    • Older infants: oral amox, if complicated or unresponsive then something broad spectrum e.g. coamoxiclav
    • Children >5: amoxicillin or oral macrolide e.g. erythromycin
  • Effusions usually resolve with antibiotics but empyema needs drainage +/- fibrinolytic agent in pleural space e.g. urokinase to deal with septations
  • Repeat CXR after 4-6 weeks if lobar collapse, atelectasis or empyema

874

How can you demonstrate a pneumothorax in a neonate?

Transillumination with a bright fibreoptic light source applied to the chest wall

875

How do you diagnose post gastroenteritis lactose intolerance?

Positive clinitest result - presenc eof non absorbed sugar in the stools

876

What are the features of Prader-Willi syndrome?

  • Chromosome 15q partial deletion
  • Characteristic facies - almond shaped eyes, thin upper lip
  • Hypotonia
  • Neonatal feeding difficulties
  • Failure to thrive in infancy
  • Obesity in later childhood
  • Hypogonadism
  • Developmental delay
  • Learning difficulties

877

How is precocious puberty defined?

Development of secondary sexual characteristics before 8 years (girls) and 9 years (boys) is outside normal range

878

What are some causes of precocious puberty in girls?

  • Usually idiopathic or familial and follows normal sequence
  • Organic causes are rare and associated with:
    • Dissonance - where seequence of changes is abnormal, suggests excess androgens from CAH or androgen secreting tumour
    • Rapid onset
    • Neurological symptoms and signs e.g. neurofibromatosis
  • USS uterus and ovaries to help establish cause - multicystic ovaries and enlarging uterus suggest early onset of normal puberty

879

What are some causes of precocious puberty in boys?

  • Uncommon - usually an organic cause e.g. intracranial tumour
  • Bilateral enlargement of testes suggests gonadotrophic release (intracranial lesion)
  • Small testes suggests adrenal cause (tumours, adrenal hyperplasia)
  • Unilateral enlarged testis suggests gonadal tumour

880

When are infants old enough to suck and swallow imlk i.e. don't need feeding by NG/orogastric tube?

35-36 weeks gestational age

881

What nutritional supplements might premature infants need?

  • Protein
  • Phosphate
  • Calories
  • Calcium
  • Iron

 

882

Why are premature infants at risk of osteopenia?

  • Calcium and phosphate are transferred in the last trimester so premature infants have less
  • Foetal activity is thought to contribute to bone development and this increases in the 3rd trimester, so they've missed out on some of this
  • Very premature babies lose more phosphate in their urine
  • Vit D deficiency can be caused by cholestasis
  • Diuretics and steroids can decrease calcium levels

883

How should you treat osteopenia in premature infants?

  • Calcium and phosphate supplements, added to breast milk or IV fluids
  • Special prematurity formula when breast milk not available
  • Vit D supplements if liver disease
  • Generally good prognosis although increased risk of fractures in 1st year and if very low birthweight may have increased risk of osteoporosis in later life

884

What are the features of PDA?  How is it managed?

  • Left to right shunt
  • Apnoea and bradycardia
  • Increased oxygen requirement and difficulty weaning from artificial ventilation
  • Bounding pulse, prominent praecordial impulse, continuous machinery murmur, signs of heart failure
  • If symptomatic, pharmacological closure with a prostaglandin synthetase inhibitor, indometacin or ibuprofen is used
  • If these fail, surgical ligation

885

Where do neonatal haemorrhages typically occur & what's the prognosis?

  • Germinal matrix above the caudate nucleus (fragile network of vessels)
    • Small haemorrhages confined to the germinal matrix do not increase risk of cerebral palsy
  • Most severe is unilateral haemorrhagic infarction involving the parenchyma
    • usually results in hemiplegia
  • Large intraventricular haemorrhage can impair drainage and resorption of CSF -> hydrocephalus needing ventriculoperitoneal shunt, can cause cerebral palsy
  • Periventricular white matter brain injury can occur following ischaemia or inflammation and it can happen in the absence of a haemorrhage
    • Periventricular leukomalacia -> 80-90% risk of psastic diplegia

886

How do T cell defects present?

  • Severe/unusual viral and fungal infections
  • Failure to thrive
  • Present first few months of life 
  • Bronchiolitis, diarrhoea, oral thrush, PCP

887

What T cell defects occur in children and what are their hcaracteristics?

  • SCID - profoundly defective cellular and humoral immunity, fatal without treatment
  • HIV
  • Wiskott-Aldrich - triad with thrombocytopenia and eczema, X linked
  • DiGeroge - maldeveloped 5th branchial arch, heart palate and facial defects, no thymus, hypoCa, deletion on Chr22
  • Duncan syndrome - X linked lymphoproliferative, can't respond to EBV - succumb or develop secondary lymphoma
  • Ataxia telangiectasia - DNA repair defect, cerebellar ataxia, developmental delay, risk of lymphoma

888

How do B cell immune deficiencies present?

  • First 2 years beyond infancy (passive maternal antibody)
  • Severe bacterial infection, especially ear, sinus, pulmonary, skin
  • Recurrent diarrhoea, failure to thrive
  • Recurrent pneumonia, bronchiectasis
  • Recurrent otitis, hearing impairment

889

What B cell defects occur in children and what are their characteristics?

  • X linked (Bruton) agammaglobulinaeia - abnormal tyosine kinase needed for B cell maturation
  • CVID - B cell deficiency, risk of autoimmunity and malignancy, later onset than Bruton
  • HyperIgM - can't switch to IgG and IgA
  • Selective IgA deficiency - most common primary immune defect, asymptomatic or recurrent infections

890

How do neutrophil defects present?

  • Recurrent bacterial infections
  • Abscesses (skin and internal), poor wound healing, perianal and perodontal infections
  • Invasive fungal infections
  • Diarrhoea and FTT
  • Granulomas from chronic inflammation

891

Which neutrophil defects present in children and what are their characteristics?

  • Chronic granulomatous disease
    • X linked recessive, some are AR
    • Defect in phagocytosis
    • Failure to produce superoxide after ingesting microorganism

892

What is a leucocyte deficiency presenting in children and what are its features?

  • Leucocyte adhesion deficiency
    • Deficiency of neutrophil surface adhesion molecules, CD18, CD116
    • Neutrophil's can't migrate to sites of infections/inflammation
  • Delayed separation of umbilical cord
  • Delayed wound healing
  • Chronic skin ulcers and deep seated infections

893

What are some complement defects presenting in children and how do they present?

  • Recurrent bacterial infections
  • SLE like illness
  • Recurrent meningococcal infections - with deficiency of the terminal complement components (C5b-C9)
  • Examples
    • Early complement component deficiency
    • Terminal complement component deficiency
    • Mannose binding lectin deficiency

894

What are the problems preterm infants are at risk of?

  • Need for resuscitation at birth
  • Respiratory
    • RDS
    • Pneumothorax
    • Apnoea and bradycardia
  • Hypotension
  • PDA
  • Temperature control
  • Metabolic
    • Hypoglycaemia
    • Hypocalcaemia
    • Electrolyte imbalance
    • Osteopenia of prematurity
  • Nutrition
  • Infection
  • Jaundice
  • Intraventricular haemorrhage/periventricular leukomalacia
  • NEC
  • Retinopathy of prematurity
  • Anaemia of prematurity
  • Iatrogenic problems
  • Bronchopulmonary dysplasia (chronic lung disease)
  • Inguinal hernias

895

In what order & when does puberty occur in females?

  • Breast development - 8.5-12.5
  • Public hair growth and rapid height spurt almost immediately after
  • Menarche - on average 2.5 years after start of puberty, signals growth is ending with ~5cm left to go

896

In what order & when does puberty occur in boys?

  • Testicular enlargement - to >4ml volume measured using an orchidometer - first sign
  • Pubic hair growth - follows testicular enlargement, usually 10-14 years
  • Height spurt when testicular volume is 12-15ml, after a delay of ~18m; greater agnitude than in females

897

What are the physical signs of pulmonary stenosis?

  • Ejection systolic murmur best heard at the upper left sternal edge
  • Thrill may be present
  • Ejection click best heard at the upper left sternal edge
  • When severe, prominent RV impulse (heave)
  • Most asymptomatic but if critical pulmonary stenosis and duct dependent pulmonary circulation they present in the first few days with cyanosis

898

What biochemical abnormality is commonly present in pyloric stenosis?

Hypochloraemic metabolic alkalosis with low plasma sodium and potassium

899

What are the causative orgnisms for reactive arthritis?

  • Children: enteric bacteria (Salmonella, Shigella, Campylobacter, Yersinia)
  • Adolescents: also viruses and STIs (chlamydia, gonorrhoea), mycoplasma, Lyme disease
  • Developing countries: rheumatic fever and strep

900

How much is a fluid bolus for a child?  Do they need saline or dextrose?

20ml/kg 0.9% saline

If glucose <3 mmol/L give bolus of 2ml/kg 10% dextrose

901

How does retinoblastoma present?  What's the treatment?

  • Unilateral or bilateral
  • All bilateral tumours are hereditary, ~20% of unilateral
  • Susceptibility gene is on chromosome 13
  • White pupillary reflex replaces the normal red one
  • Squint
  • Chemotherapy to shrink tumours and then local laser treatment to the retina; radiotherapy if more advanced disease
  • Significant risk of secondary malignancy especially sarcoma amongst survivors of hereditary types
  • Most are cured but many visually impaired

902

What is the pathophysiology in retinopathy of prematurity and how is it managed?

  • Vascular proliferation of developing blood vessels at the junction of hte vascular and non-vascularised retina
  • May progress to
    • Retinal detachment
    • Fibrosis
    • Blindness
  • Can be caused by uncontrolled use of high flow oxygen
  • Laser therapy reduces visual impairment and preterm infants now screened weekly if susceptible

903

What are the 2 common kinds of right to left shunt?

Tetrallogy of fallot, transposition of the great arteries

904

What test can you do to determine the presence of heart disease in a cyanosed neonate?

Hyperoxia (nitrogen washout) test

905

How is scabies managed?

  • PErmethrin 5% cream
    • Apply below the neck to all areas
    • Wash off after 8-12 hours
    • IN babies include the face and scalp avoiding the eyes
  • Benzyl benzoate emulsion (25%)
    • Also effective but smells and is irritant
    • Apply below the neck diluted according to age
    • Leave on for 12 hours
  • Malathion lotion (0.5% Aqueous)
    • Apply below the neck
    • Leave on for 12h

906

What is scalded skin syndrome and how does it present/how is it treated?

  • Exfoliative staphylococcal toxin which causes separation of the epidermal skin through the granular cell layers
  • Fever, alaise, purulent crusing localised infection around the eyes, nose, and mouth wiht subsequent widespread erythema and tenderness of the skin
  • Nikolsky sign positive
  • Management
    • IV