Paediatrics: NOTES Flashcards

1
Q

What is the most common cause of bacterial pneumonia in children?

A

S.pneumonia

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2
Q

What bacteria causes atypical chest x-ray findings in paediatric pneumonia?

A

S.aureus

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3
Q

What is the definition of pneumonia?

A

An infection of the lower respiratory tract and lung parenchyma that leads to consolidation

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4
Q

What is the most common causative pathogen of pneumonia in newborns?

A

Group B Streptococcus (organisms from the mother’s genital tract).

Others: E.coli, Klebsiella, S.aureus

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5
Q

What is the difference in most common cause of pneumonia in young children vs older children?

A

Young Children: viruses
Older children: bacteria

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6
Q

What is the most common viral cause of pneumonia?

A

RSV

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7
Q

What is the typical clinical features of a child with pneumonia?

A

Fever, cough (typically wet and productive), rapid breathing. Also; lethargy, poor feeding

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8
Q

What are the characteristic chest signs of pneumonia on examination?

A

Bronchial breath sounds, focal coarse crackles, dullness to percussion (due to consolidation), tactile vocal fremitus

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9
Q

What resp rate indicates severe illness in children+infants? (different for each)

A

Infants: >70/min
Children: >50/min

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10
Q

What are bronchial breath sounds?

A

Harsh breath sounds that are equally loud on inspiration and expiration

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11
Q

What are the signs of respiratory distress?

A

Tachypnoea, grunting, intercostal recession, use of accessory muscles for breathing

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12
Q

What are the indications for a child being sent to hospital for pneumonia?

A

Oxygen less than 92%, recurrent apnoea, grunting, inability to maintain adequate feed/fluid

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13
Q

What investigations should be done for pneumonia?

A

Sputum sample, CXR (confirm dx but can’t differentiate between viral and bacteria), nasopharyngeal aspirate (identify viral in infants), blood culture, pleural fluid (if significant pleural effusion, sample should be taken when drained)

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14
Q

What is the antibiotic therapy for children under 5 with bacterial pneumonia?

A

Amoxicillin (S.pneumoniae; most common cause)

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15
Q

What is the antibiotic therapy for children over 5 with bacterial pneumonia?

A

Amoxicillin (mycoplasma.pneumoniae is most common in this age group)

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16
Q

What antibiotic course should be used in severe pneumonia?

A

Co-amoxiclav, cefotaxime, or IV cefurozime

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17
Q

What % saturation indicates need for oxygen use?

A

92%

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18
Q

What are the indications for requiring aspiration of a effusion (as a complication of pneumonia)

A

Large effusion, no clear underlying diagnosis, respiratory distress, persistent fever despite abx, history longer than 14 days

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19
Q

What is an empyema

A

A collection of pus in a cavity in the body, especially pleural

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20
Q

What is croup?

A

Viral laryngotracheobronchitis. It is mucosal inflammation affecting anywhere from the nose to the lower airway

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21
Q

What is the most common cause of croup? What are other possible causes?

A

Parainfluenza virsues. Other causes can be rhinovirus, RSV, influenca

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22
Q

What age group does croup affect?

A

6 months to 6 years, with peak incidence in the 2nd year of life in autumn

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23
Q

What was a previous common cause of croup (we now vaccinate against this)

A

Diptheria, which led to epiglottitis

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24
Q

What is the class presentation of croup?

A

coryza and low grade fever, followed by hoarseness (inflammation of the vocal chords), barking cough attacks (due to tracheal oedema and collapse), harsh stridor, difficulty breathing, worse at night

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25
Q

What is stridor?

A

Noisy breathing that occurs due to obstructed air flow through a narrowed airway

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26
Q

What should + not be examined in croup?

A

Do not examine the throat (due to risk of closure). Assess degree of stridor and subcostal recession, RR, HR, LOC, pulse oximetry

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27
Q

What is the 1st line treatment for croup?

A

Oral dexamethasone (0.15mg/kg). Croup responds well to steroids (can also use oral prednisolone or nebulized steroids)

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28
Q

what should be the management for severe upper airways obstruction?

A

Nebulised adrenaline with oxygen by facemask

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29
Q

What is the typical aetiology of epiglottitis?

A

Haemophilus influenza type B

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30
Q

What is the pathophysiology of croup?

A

URTI causing oedema in the larynx

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31
Q

What is the typical presentation of epiglottitis?

A

unvaccinated child presenting with a fever, sore throat, difficulty swallowing, sitting forward (tripod position) and drooling. Scared and unwell. Muffled voice (can be called hot potato voice). Minimal cough

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32
Q

What is a major differential dx for croup?

A

Epiglottitis

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33
Q

What is epiglottitis?

A

Intense swelling of the epiglottitis and surrounding tissues, associated with septicaemia. High risk of obstruction

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34
Q

How is Epiglottitis Diagnosed?

A

Direct visualisation by airway trained staff, or xray. DO NOT EXAMINE THROAT DUE TO OBSTRUCTION RISK, DO NOT DISTRESS PATIENT

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35
Q

What is the xray sign of epiglottitis?

A

Lateral: thumb sign (swelling of the epiglottis)
Anterior-posterior: steeple sign (subglottic narrowing)

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36
Q

What is the management of epiglottitis?

A

Urgent airway management (intubation/tracheostomy). Blood culture. ABx

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37
Q

What is the first line abx tx for epiglottitis?

A

IV 2nd/3rd generation cephalosporin (cefuroxime, ceftriaxone, cefotaxime)

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38
Q

What prophylactic abx is offered to household contacts in epiglottitis?

A

Rifampicin

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39
Q

What is a potentially life threatning complication of epiglottitis?

A

Epiglottic abscess

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40
Q

What is asthma

A

Chronic inflammatory airway disease leading to variable airway obstruction

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41
Q

What are common triggers for asthma

A

FHx, dust, animals, cold air, exercise, smoke, food allergens

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42
Q

What other conditions may someone with asthma have?

A

atopy; eczema, hayfever, food allergies

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43
Q

What is the typical presentation of asthma?

A

Diurnal variability, dry cough, progressively worsening SOB, signs of respiratory distress, tachypnoea, expiratory wheeze, improvements of symptoms with bronchodilators

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44
Q

What wheezing is heard on ausculation of a child’s chest with asthma?

A

Bilateral widespread polyphonic wheeze (believed to represent many airways of different sizes vibrating from abnormal narrowing)

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45
Q

What is a ominous sign of asthma on auscultation?

A

Silent chest; the airways are so tight it isn’t possible for a child to move air through the airways to create a wheeze

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46
Q

What is a unilateral wheeze suggestive of?

A

Focal lesion, inhaled foreign body, infection

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47
Q

What peak flow percentages are seen for moderate, severe, and life threatening asthma?

A

Moderate: >50%
Severe: <50%
Life-threatening: <33%

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48
Q

What are the signs of severe asthma?

A

<50% peak flow, <92% oxygen saturations, unable to complete sentences in one breath, signs of respiratory distress, tachypnoea, tachycardia

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49
Q

What are the signs of life threatening asthma?

A

<33% peak flow, <92% O2 sats, exhaustion and poor respiratory effort, hypotension, silent chest, cyanosis, altered consciousness/confusion

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50
Q

At what age is spirometry with reversibility testing generally done?

A

Over 5 years (requires a degree of cooperation from the child)

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51
Q

What might a CXR show for asthma?

A

Hyperinflation, flattened hemi-diaphragms, peribronchial cuffing, atelectasis (partial or incomplete inflation of lung)

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52
Q

What s/e can salbutamol cause, and how should this be managed?

A

Hypokalaemia; manage serum K+. Can cause tachycardia and a tremor

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53
Q

What are the 3 patterns of wheezing for children?

A

Vial episodic wheezing (only in response to viral infections), multiple trigger wheeze (in response to multiple triggers, can develop into asthma over time), asthma

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54
Q

What is a viral episodic wheeze?

A

Thought to result from small airways being more likely to narrow and obstruct due to inflammation and immune responses to viral infection. Episodic, as often triggered by common cold viruses

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55
Q

What is the pathophysiology of asthma?

A

Bronchial inflammation (oedema, execessive mucus production, infiltration with cells), bronchial hyperresponsiveness (exaggerated twitchiness to inhaled stimuli), airway narrowing (reversible airflow obstruction)

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56
Q

What is an example of a long acting beta2-agonist?

A

Salmeterol, formoterol

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57
Q

What should LABAs not be used without and why?

A

Inhaled corticosteroid (preventers; decrease airway inflammation, result in decreased symptoms)

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58
Q

What are examples of inhaled corticosteroids

A

Budesonide, beclametasone, fluticasone

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59
Q

What systemic side effects may be seen from use of high dose steroids in asthma?

A

Imapired growth, adrenal suppression, altered bone metabolism. Ensure to always monitor the child’s growth

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60
Q

What is ipratropium bromide, and when might it be used in the tx of asthma?

A

An anticholinergic dilator. Can be given to young infants when other bronchodilators ineffective, or for the tx of severe acute asthma

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61
Q

What is an example of a leukotriene receptor antagonist (LTRA)?

A

Montelukast

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62
Q

What is the pathway for treating an ACUTE flare up of asthma?

A
  1. Salbutamol inhalers via spacer device
  2. Nebulisers with salbutamol/ipratroium bromide
  3. Oral prednisolone
  4. IV hydrocortisone
  5. IV magnesium sulfate
  6. IV salbutamol
  7. IV aminophylline
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63
Q

What is the first treatment for mild intermittent asthma?

A

SABA: salbutamol

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64
Q

What is the third step of treatment of mild intermittent asthma (after SABA and ICS)

A
  • less than 5 years: add LTRA (montelukast)
  • if more than 5 years, add a LABA. If poor response, can either increase ICS. If very poor response, stop LABA, add LTRA
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65
Q

What is the next step of medication of asthma after addition of LTRA and increased dose of ICS?

A

Theophylline

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66
Q

When should oral steroids be given for asthma?

A

After all other avenues explored, such as high dose inhaled corticosteroids, LTRA, theophylline

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67
Q

What is the criteria for the admission of a child to hospital for asthm?

A

if after high dose inhaled bronchodilator therapy;
- havent response: eg, still breathless or have tachypnoea
- exhausted
- still reducing peak flow
- <92% O2 sat

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68
Q

What is the difference in chest recession in moderate, severe and life threatening asthma?

A

Moderate: some intercostal recession
Severe: accessory neck muscles
Life threatening: poor respiratory effor

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69
Q

What are the common causes of viral induced wheeze?

A

RSV or rhinovirus

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70
Q

What physic’s law explains why viral induced wheeze has more of an impact on young children?

A

Poiseuille’s law; small diameter of the airwar, proportionally larger restriction in airflow

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71
Q

How can you differentiate between viral induced wheeze and asthma?

A
  • asthma is a clinical diagnosis, and rarely made before the age of 5. Viral induced wheeze is a symptom rather than a diagnosis
  • VIW is preceded by a coryzal illness, and has no atopic history
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72
Q

What is the difference in the pathophysiology of bronchiolitis and viral induced wheeze?

A

The symptoms of viral induzed wheeze are due to bronchospasm, whereas in bronchiolitis there is diameter narrowing but also secretions (leading to wet lungs)

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73
Q

What is the main cause of bronchiolitis?

A

RSV

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74
Q

What is the pathophysiology of bronchiolitis?

A

Long and short: inflammation and infection in the bronchioles.

RSV invades the nasopharyngeal epithelium and spreads to the lower airways where it causes increased mucous production, desquamation, and then bronchiolar obstruction. The net effect is pulmonary hyperinflation and atelectasis

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75
Q

Why does bronchiolitis affects children and not adults?

A

In adults, when there is swelling and mucus in the airways, there is little affect on breathing due to size of the lumens. In infants, airways are small, so there is reduced air movement to and from the alveoli; airflow obstruction

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76
Q

what are the RF for a child developing bronchiolitis?

A

Prematurity, congenital heart disease, immunodeficiency, other chronic lung conditions (eg, CF)

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77
Q

What is the typical presentation of bronchiolitis?

A

Coryzal symptoms, dry wheezy cough, increasing breathlessness, fever

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78
Q

What is heard on auscultation of a baby with bronchiolitis?

A

Fine end-respiratory crackles, high pitched wheeze

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79
Q

What population is affected by bronchiolitis

A

Children under 2, generally under 1. In the winter/spring

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80
Q

What preventative measures can be given to preemies at risk of bronchiolitis

A

Monthly IM injection of palivizumab (monoclonal antibody antibody). This reduces risk of hospitalisation and need for mechanical ventilation

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81
Q

What investigations should be taken for bronchiolitis?

A
  • nasopharyngeal swab: immunoflourescent antibody testing for RSV binding
  • pulse oximetry
  • CXR and blood gases if respiratory failure is suspected
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82
Q

When is hospital admission indicated for bronchiolitis?

A
  • Sleep apnoea
  • persistent oxygen sats <90%
  • inadequate oral fluid intake (below 50% of normal)
  • severe respiratory distress: grunting, marked chest recession, RR >70/min
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83
Q

What is the management of bronchiolitis: what is and isnt indicted?

A
  • supportive management with O2 (via nasal cannula)
  • nasal suction
  • fluids by NG tube or IV
  • no evidence for use of nebulised bronchodilators, abx, or steroids
  • may need ventilation if distress: CPAP to maintain airways, and intubation and ventilation via endotracheal tube if indicated
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84
Q

What is type 2 respiratory failure?

A

Increase in CO2 and decrease in O2

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85
Q

What is bronchiolitis obliterans

A

Constrictive bronchiolitis; rare condition associated with permanent obstruction of the bronchioles due to chronic inflammation, leads to scar tissue formation

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86
Q

What is the common cause of bronchiolitis obliterans?

A

Adenovirus

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87
Q

What is the inheritance of cystic fibrosis?

A

autosomal recessive

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88
Q

What mutation occurs in cystic fibrosis, and on what chromosome?

A

Chromosome 7, mutation to CFTR gene (CF transmembrane conductance regulator). Leads to defective ion transport in exocrine glands.

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89
Q

What is the carrier rate of cystic fibrosis?

A

1 in 25

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90
Q

How is cystic fibrosis diagnosed in newborns?

A

Bloodspot screening (Guthrie card). Measures immunoreactive trypsinogen.

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91
Q

What causative organism causes chronic infections in children with CF?

A

pseudomonas aeruginosa

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92
Q

What are the multisystem impact of cystic fibrosis?

A
  • Airways: reduction in airway surface liquid, impaired ciliary function, retention of mucopurulent secretions
  • dysregulation of inflammation and defence against infection
  • pancreatic duct: blocked by thick secretions, leads to pancreatic enzyme deficieny and malabsorption
  • infertility
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93
Q

What is a common first sign of CF in newborn babies?

A

Meconium ileus (the meconium is thick and sticky, therefore gets stuck and obstructs the bowel). Presents as not passing meconium within 24 hours, abdominal distension and vomitingW

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94
Q

What are later symptoms of cystic fibrosis?

A
  • chronic cough
  • thick sputum production
  • recurrent respiratory tract infections (pneumonia, bronchiectasis)
  • steatorrhoea (due to lack of fat digesting lipase enzymes)
  • abdominal pain and bloating
  • failure to thrive
  • older children: diabetes, delayed onset puberty
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95
Q

What are possible signs of cystic fibrosis on examination?

A
  • nasal polyps
  • finger clubbing due to chronic hypoxia
  • crackles and wheezes on auscultation
  • hyperinflation of the chest
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96
Q

What conditions can cause finger clubbing?

A

cyanotic heart disease, infective endocarditis, TB, IBD, liver cirrhosis, CF (conditions that cause chronic hypoxia, or have malabsorption)

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97
Q

What can the impacts of cystic fibrosis be on the pancreas?

A

Thick pancreatic and biliary secretions block the ducts. Leads to pancreatic exocrine insufficiency (lipase, amylase, protease). Results in maldigestion and malabsorption

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98
Q

What is the gold standard dx for CF?

A

Sweat test

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99
Q

What is the diagnostic concentration of chloride ions for the sweat test for CF?

A

60 mmol/L

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100
Q

Why is pseudomonas aeruginosa risky for children with CF?

A

Very hard to treat and worsens prognosis. Can be passed between CF patients

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101
Q

What is the treatment for pseudomonas aeruginosa

A

Tobramycin

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102
Q

What is a very common coloniser of the lungs in CF patients? and tx?

A

S.aureus. Treatment is continuous prophylactic oral abx (fluclox)

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103
Q

What is seen on a CXR for children with CF?

A

hyperinflation, increased antero-posterior diameter, bronchial dilation, cysts, linear shadows, infiltrates

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104
Q

What is the only therapeutic option for end stage CF lung disease?

A

Bilateral sequential lung transplantation

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105
Q

What investigations should be done in a CF exacerbation?

A

Pulmonary function test (10-15% decrease), sputum cultures, CXR

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106
Q

What treatment can help digestion in patients with CF?

A

CREON tablets to help digest fats in patients with pancreatic insufficiency (replaces lipase enzymes)

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107
Q

What treatment is given to CF patients to help make secretions easier to clear?

A

Nebulised DNase. This is an enzyme that can break down the DNA material in respiratory secretions, making them less viscous and easier to clear

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108
Q

What is whooping cause caused by?

A

Bordetella pertussis (gram negative bacteria)

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109
Q

What is the disease progression of whooping cough?

A
  1. Mild coryzal symptoms, fever, cough (1 week)
  2. Severe paroxysmal cough, followed by inspiratory whoop and vomiting
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110
Q

What causes the characteristic cough in whooping cough?

A

Coughing fits so severe that the child is unable to take in any air between coughs and subsequently makes a loud whooping sounds as they forcefully suck in air after the coughing finishes (paroxysmal cough). Can cough so hard, followed by fainting, vomiting, nosebleed, or even developing a pneumothorax. During coughing, mucus normally flows from nose and mouth.
Known as 100 day cough, as can persistent for a long time!

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111
Q

When is vaccination of whooping cough done?

A
  • offered to pregnant women
  • children; 2, 3, and 4 months. Then booster ~3 years
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112
Q

What is the dx of whooping cough?

A

nasopharyngeal nasal swab for culturing organism

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113
Q

What prophylactic treatment is given to close contact for whooping cough?

A

Macrolide prophylaxis

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114
Q

What is the 1st line treatment for chidlren with whooping cough?

A

Azithromycin. This will reduce contagiousness (infectivity period), but doesn’t alter clinical course.
Other than this, supportive management

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115
Q

How long should children with whooping cough avoid school?

A

Until cough for 21 days, or antibiotics for 5 days. Not contagious after this

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116
Q

What is transient tachypnoea of the newborn?

A

Parenchymal lung disorder characterised by pulmonary oedema resulting from delayed resorption and clearance of foetal alveolar fluid

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117
Q

What is the commonest risk factor for transient tachypnoea of the newborn?

A

C-section

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118
Q

What are common differentials for acute SOB in neonates?

A

TTN, respiratory distress syndrome, meconium aspiration, pneumothorax

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119
Q

What causes respiratory distress syndrome?

A

Lack of surfactant

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120
Q

What age group does respiratory distress syndrome affect?

A

Premature, <32 weeks

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121
Q

What is the commonest cause of respiratory distress in newborns?

A

TTN

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122
Q

What is the management and course of TTN?

A

Treatment is O2. It should resolve in a few days with resorption of lung fluid

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123
Q

What are signs of moderate respiratory distress?

A

Tachypnoea
Tachycardia
Nasal Flaring
Use of accessory respiratory muscles
Intercostal and subcostal recession
Head retraction
Inability to feed

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124
Q

What are the signs of severe respiratory distress

A

Cyanosis
Tiring because of increased work of breathing
Reduced consciousness level
Oxygen saturation <92% despite O2

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125
Q

What are risk factors for respiratory distress

A
  • E-preemies with bronchopulmonary dysplasia
  • Haemo-dynamically significant congenital heart disease
  • disorders causing muscle weakness
  • CF
  • immuno deficiency
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126
Q

What is stridor?

A

Predominantly inspiratory. From extra thoracic airway obstruction in the trachea and larynx

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127
Q

What is wheeze?

A

Predominantly expiratory from intrathoracic airway narrowing

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128
Q

What are the symptoms of foreign body aspiration?

A
  • sudden onset dyspnoea
  • decreased breath sounds
  • inspiratory stridor
  • expiratory wheezing (focal)
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129
Q

What is the most common cause of stridor?

A

Laryngeal and tracheal infection, eg, croup

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130
Q

What is laryngomalacia?

A

Immature cartilage of the upper larynx collapses during inhalation

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131
Q

How does laryngomalacia present?

A

stridor; noisy breathing in an otherwise well child

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132
Q

How can the severity of obstruction be assessed?

A

Degree of stridor and chest retraction

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133
Q

What symptoms suggest complete obstruction of the upper airway?

A

Central cyanosis, drooling or reduced level of consciousness

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134
Q

What weeks is surfactant produced, and what cells produce it?

A

From 24-28 weeks. Type II pneumocytes

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135
Q

How does Respiratory Distress Syndrome appear on CXR?

A

Diffuse granular/’ground glass appearance’

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136
Q

How can respiratory distress syndrome be prevented?

A

Dexamethasone given to mothers at risk of premature delivery

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137
Q

What are the differences of consolidation on CXR for viral vs bacterial pneumonia?

A
  • viral: bilateral consolidation
  • bacterial: lobar consolidation
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138
Q

What % improvement is required following spirometry reversibility texting for a asthma diagnosis?

A

10% improvement

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139
Q

Why is magnesium sometimes used in asthma treatment??

A

Causes smooth muscle relaxation

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140
Q

What is the most common cause of bacterial tonsilitis?

A

Group A strep

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141
Q

What is the commonest cause of viral tonsilitis?

A

Rhinovirus, Corona Virus, Parainfluenza

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142
Q

What is the Centor criteria for tonsilitis?

A

Determines probability of bacterial infection, and will benefit from ABx

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143
Q

What is the fever pain score?

A

Calculates the likelihood of strep throat and the need for antibiotic prescription

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144
Q

Why does lack of surfactant production lead to RDS?

A

surfactant decreases the surface tension on the small airways and alveoli, which prevents the collapse of alveoli. Leads to increased surface tension, so increased pressure is required to maintain the alveolar shape. Atelectasis occurs throughout the lung, which reduces gas exchange. Repeated atelectasis results in an inflammatory response as the respiratory epithelium is damaged. Pulmonary oedema can develop.

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145
Q

What is the tx for laryngomalacia?

A

Usually resolves over time as the larynx matures and grows and is able to support itself

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146
Q

What anatomical changes lead to laryngomalacia?

A

the aryepiglottic folds are shortened, which pulls on the epiglottis and changes it shape to a characteristic “omega” shape. During inspiration, the soft tissue of the supraglottic larynx is soft and pulls across the airway and partially obscures it.

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147
Q

Embryologically, what do the head and neck structures develop from?

A

Pharyngeal (branchial) arches, pouches, and clefts

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148
Q

What makes up the external ear?

A

The auricle/pinna, and external acoustic meatus (ear canal)

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149
Q

What makes up the middle ear?

A

Tympanic cavity (air filled section in the temporal bone), lined with a mucous membrane. Auditory ossicles + eustachian tube

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150
Q

What makes up the inner ear?

A

Formed of the bony and membranous
labryinth, Vestibulocochlear organs: bony labryinth, membranous labryinth, utricle and saccule, semicircular ducts, cochlear duct

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151
Q

What is otitis media?

A

Infection of the middle ear

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152
Q

What is the common bacterial entry method of otitis media?

A

Bacteria enters from the back of the throat via the eustachian tube

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153
Q

What are the common causative organism of otitis media?

A

Viruses, streptococcus pneumoniae, h. influenzae, s.aureus

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154
Q

What are risk factors for otitis media?

A

Younger age, male sex, smoking in the household, formula feeding, craniofacial abnormalities (downs, cleft palate)

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155
Q

Why is otitis media less common in older children?

A

As children grow bigger, the angle between the Eustachian tube and the wall of the pharynx becomes more acute, so that coughing or sneezing tends to push it shut. In small children, the less acute angle facilitates infected material being transmitted through the tube to the middle ear

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156
Q

What is the presentation of otitis media, and what typically precedes it?

A

Typically preceded by a viral upper respiratory tract infection. Ear pain (otalgia) , reduced hearing the in the affected ear, fever, irritability, coryzal symptoms. If vestibular system affected; balance + vertigo

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157
Q

If there is discharge with suspected otitis media, what has caused this?

A

Rupture of the tympanic membrane

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158
Q

What are risk factors for Otitis media?

A

Younger age, male sex, smoking in the household, formula feeding, craniofacial abnormalities (downs, cleft palate)

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159
Q

What is seen when investigating otitis media with a otoscope?

A

Red and bulging tympanic membrane with the loss of a normal light reflex. May see acute perforation

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160
Q

What is a possible complication of recurrent otitis media?

A

Glue ear

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161
Q

What is secretory otitis media?

A

Middle ear effusion without the symptoms and signs of acute otitis media. Duration is often months, and there may be effusions

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162
Q

What are rare but serious complications of otitis media?

A

Mastoiditis, meningitis, brain abscess, facial nerve paralysis

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163
Q

What is the most common age for otitis media to occur?

A

6-12 months

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164
Q

What is the most common cause of conductive hearing loss in children?

A

Otitis media

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165
Q

How do viruses cause otitis media?

A

Viral URTIs are thought to disturb the normal nasopharyngeal microbiome, allowing bacteria to infect the middle ear via the Eustachian tube

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166
Q

What symptoms suggest a middle ear effusion?

A

Bulging of the tympanic membrane, otorrhoea (discharge from the ear), decreased mobility on pneumatic otoscopy

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167
Q

What is the general treatment of acute otitis media?

A

It is generally a self-limiting condition that does not require an abx prescription. Analgesia can be given to relieve otalgia. Parents advised to seek further help if symptoms worsen/dont improve after 3 days

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168
Q

What are the indications for abx in the treatment of otitis media in children?

A

<2 years old and bilateral, present for more than 4 days, immunocompromised or at high risk of complications, otitis media with perforation/discharge in the canal

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169
Q

What are gromments, and why would they be indicated?

A

Tympanostomy ventilation tubes. They are treatment for recurrent secretory otitis media

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170
Q

How do Grommets work?

A

Allow fluid from the middle ear to drain through the tympanic membrane to the ear canal

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171
Q

What is the first line abx treatment for otitis media?

A

5-7 days of amoxicillin

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172
Q

What is the common sequelae of otitis media?

A

Perforation of the tympanic membrane leads to chronic supprative otitis media. This is defined as perforation of the tympanic membrane with otorrhoea for >6 weeks. Leads to hearing loss.

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173
Q

How does glue ear appear on otoscopy?

A

Eardrum is seen as dull and retracted, often with visible fluid level

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174
Q

What is the potential complication of glue ear?

A

Usually resolves spontaneously but may cause conductive hearing loss as shown on pure tone audiometry (if >4 years) or a flat trace on tympanometry hearing testing in younger children

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175
Q

What is the main presentation of glue ear?

A

Hearing loss (can be asymptomatic other than this)

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176
Q

If Grommets have to be replaced twice and still no improvement, what surgery can be considered?

A

Tonsillo-adenelectomy

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177
Q

What is the pathophysiology of glue ear?

A

Effusion in the middle ear without an infection, that can occur after slowly resolving/recurrent acute otitis media. The fluid has a deadening effect on the vibrations of the eardrum and ossicles

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178
Q

How can issues with hearing present in paediatric populations?

A

Mishearing, difficulty communicating in a group, listening to the TV at high volumes. Lack of concentration, withdrawal. Impaired speech and language development, impaired school progress. Balance problems

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179
Q

What is otitis externa?

A

Inflammation of the external ear canal (also known as Swimmer’s ear)

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180
Q

What is the common presentation of otitis externa?

A

It commonly presents with minimal discharge, itch and pain due to acute inflammation of the skin of the external auditory meatus.

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181
Q

What are the most common organisms of otitis externa?

A

Pseudomonas spp., and s. aureus

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182
Q

What is the most common trigger for otitis externa?

A

Swimming

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183
Q

What are the causes of otitis externa?

A

Infection (bacterial or fungal), seborrhoeic dermatitis, contact dermatitis

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184
Q

What is the first line treatment for otitis externa?

A

Topical antibiotic

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185
Q

What are the two categories of hearing loss?

A

Sensorineural and conductive

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186
Q

What is the most common cause of sensorineural hearing loss?

A

Genetics

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187
Q

What are the antenatal and perinatal causes of sensorineural hearing loss?

A

Congenital infection (such as rubella), preterm, hyperbilirubinaemia

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188
Q

What are the postnatal causes of sensorineural hearing loss?

A

Meningitis/encephalitis, head injury, drugs (such as aminoglycosides, furosemide), neurodegenerative disorders

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189
Q

What extent of hearing loss is seen with sensorineural loss?

A

May be profound (>95-dB hearing loss)

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190
Q

What is the management of sensorineural hearing loss?

A

Amplification or cochlear implant if necessary

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191
Q

What is the causes of conductive hearing loss?

A

Otitis media with effusion (glue ear), Eustachian tube dysfunction, Wax (rarely)

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192
Q

What are possible causes of Eustachian tube dysfunction?

A

Down Syndrome, Cleft palate, Pierre Robin Sequence, midfacial hypoplasia

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193
Q

What is the extent of hearing loss with conductive loss?

A

Maximum of 60-dB hearing loss. This is often intermittent and resolves

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194
Q

What is sensorineural hearing loss?

A

Caused by a lesion in the cochlea or auditory nerve and is usually present at birth. It is irreversible, and can be of any severity

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195
Q

Abnormalities in what part of the ear can cause conductive hearing loss?

A

Middle ear

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196
Q

How is Conductive hearing loss diagnosed?

A

Impedance auditory tests, which measure the air pressure within the middle ear and the compliance of the tympanic membrane, determine if the middle ear is functioning normally.

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197
Q

What is the most common cause of bacterial tonsillitis, and what is the treatment?

A

Group A streptococcus (Streptococcus pyogenes). This can be effectively treated with penicillin V (phenoxymethylpenicillin).

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198
Q

Is tonsillitis more commonly viral or bacterial?

A

Viral

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199
Q

What is the anatomy of the tonsils, and which are is affected in tonsilitis?

A

In the pharynx, at the back of the throat, there is a ring of lymphoid tissue. There are six areas of lymphoid tissues, making up the adenoid, tubal tonsils, palatine tonsils and the lingual tonsil. The palatine tonsils are the ones typically infected and enlarged in tonsillitis. These are the tonsils at either side at the back of the throat.

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200
Q

What is the typical presentation of tonsillitis?

A

A typical presentation is a child with a fever, sore throat and painful swallowing. It can also present with non-specific symptoms, particularly in younger children (fever, poor oral intake, headache, vomiting)

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201
Q

What score of the centor criteria indicates a probability of bacterial tonsillitis?

A

A score of 3 or more gives a 40 – 60 % probability of bacterial tonsillitis, and it is appropriate to offer antibiotics

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202
Q

What is a possible serious complication of tonsillitis?

A

Peritonsillar abscess (quinsy)

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203
Q

What is the presentation of quinsy?

A

Sore throat, painful swallowing, fever, neck pain, referred ear pain, lymphadenopathy, trismus (unable to open mouth), hot potato voice (due to pharyngeal swelling)

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204
Q

How can visual impairment present in a infant or young child?

A

Obvious ocular malformations, not smiling responsively by 6 weeks post-term, concerns about poor visual response (including eye contact), nystagmus, squint

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205
Q

What can be the causes of an absent red reflex or white reflex?

A

Opacification of introcular structures, corneal abnormalities, or intraocular tumour (retinoblastoma)

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206
Q

What is nystagmus?

A

Repetitive, involuntary, rhythmical eye movement

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207
Q

What is peri-orbital cellulitis?

A

Infection of the peri-orbital skin

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208
Q

What are the most common causative organisms of periorbital cellulitis?

A

S.aureus or H.influenzae type B

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209
Q

What is the typical course of infection for peri-orbital cellulitis?

A

URTI followed by a painful swollen eye

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210
Q

What should be the response to suspected periorbital cellulitis?

A

Medical emergency – requires prompt treatment with a 5-7 day course of IV antibiotics

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211
Q

What is the presentation of peri-orbital cellulitis?

A
  • Systemically unwell with fever, erythema, tenderness over affected area
  • pain and swelling over the region
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212
Q

What can happen if periorbital cellulitis is left untreated?

A

May develop into orbital cellulitis with evolving ocular proptosis, limited ocular movement, and decreased visual acuity. Orbital cellulitis can be life and sign threatening

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213
Q

What investigation can differentiate periorbital cellulitis and orbital cellulitis?

A

CT scan

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214
Q

What is the difference in the pathology of peri- and orbital cellulitis?

A

Periorbital cellulitis: eyelid and skin infection infront of the orbital septum

Orbital cellulitis: infection around the eyeball that involves tissues behind the orbital septum (anterior boundary of the orbit)

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215
Q

What are the potential complications of orbital cellulitis?

A

Surgical emergency with major complications including loss of vision, abscess formation, venous sinus thrombosis and extension to intracranial infection with subdural empyema, and meningitis

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216
Q

What unusual causative organisms should be considered for neonatal presentation of periorbital/orbital cellulitis?

A

Gonorrhoea and Chlamydia

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217
Q

What are red flag symptoms regarding orbital cellulitis?

A

Painful or restricted eye movements, Visual impairment: reduced acuity or relative afferent pupil defect or diplopia, Proptosis, Severe headache or other features of intracranial involvement

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218
Q

What is strabismus?

A

A squint. This is a misalignment of the visual axes

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219
Q

What is manifest strabismus?

A

Misalignment of the eyes. May only happen intermittently or when tired

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220
Q

What is esotropia?

A

Squint, eyes inwards

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221
Q

What is exotropia?

A

Squint, eyes deviated outwards

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222
Q

What is hypertropia?

A

Squint, eyes drift or look upwards

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223
Q

What is hypotropia?

A

Squint, eyes drifts or looks downwards

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224
Q

What is latent strabismus?

A

The eyes are straight when both eyes are open but a deviation of the visual axis can be elicited when each eye is covered. The affected eye will move when covered; eyes stopped from working together. This can develop to manifest strabismus

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225
Q

What is pseudostrabismus?

A

Looks like there is a squint, but there is not. This may be due to facial appearance (hooded eyes, unilateral ptosis, deepset eyes, facial asymmetry)

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226
Q

What are the possible aetiology of strabismus?

A

Hereditary, refractive error (eg, hypermetropia, anisometropia) unknown cause (common), secondary to loss of vision, anatomical/mechanical effects, neurological (rare), paralysis of muscles

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227
Q

What is hypermetropia?

A

Long-sightedness

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228
Q

What is anisometropia?

A

Condition of asymmetric refraction between the two eyes (eg, different glasses prescription between eyes).

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229
Q

What are the common causes of anisometropia?

A

This is often due to one eye having a slightly different shape or size from the other causing unequal curving (astigmatism), unequal far-sightedness (hyperopia), or unequal near-sightedness (myopia)

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230
Q

What is Hirschberg’s test? What does it test for?

A

Strabismus. Shine a pen-torch at the patient from 1 meter away. When they look at it, observe the reflection of the light source on their cornea. The reflection should be central and symmetrical. Deviation from the centre will indicate a squint. Make a note of the affected eye and the direction the eye deviates

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231
Q

What is the cover test?

A

Test for strabismus. Cover one eye and ask the patient to focus on an object in from of them. Move the cover across to the opposite eye, and watch the movement of the previously covered eye. If this moves inwards, means it had drifted outwards before when covered.

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232
Q

What is paralytic strabismus?

A

the inability of the ocular muscles to move the eye because of muscular paralysis. Can be sinister due to possibility of underlying space-occupying lesion

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233
Q

What investigations should be done for strabismus?

A

General inspection, Eye movements, fundoscopy (rule out retinoblastoma, cataracts), visual acuity, Hirschberg’s test, cover test, ocular movements

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234
Q

What is concomitant strabismus?

A

The deviation of the eyes remains constant with changes in angle of gaze. Usually due to refractive error in both eyes. Glasses often corrects the squint

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235
Q

What is the definition of ambylopia?

A

Defective visual acuity which persists after correction of the refractive error and removal of any pathology

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236
Q

What is the pathophysiology of strabismus?

A

When a squint occurs in childhood, before the eyes have fully established their connections with the brain, the brain copes with this misalignment by reducing the signal from the less dominant eye. This results in one eye that is used to see (dominant eye) and one eye they ignore (lazy eye). If this is not treated, the lazy eye gets and more disconnected from the brain (amblyopia)

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237
Q

What is the management for strabismus?

A
  • conservative: glasses, orthoptic exercises
  • surgery: muscle resection
  • botulinum toxin (inject muscle. Can also be an excellent diagnostic tool pre-operatively)
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238
Q

What muscle should be injected with botox in esotropia?

A

Medial rectus

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239
Q

What muscle should be injected with botox in exotropia?

A

Lateral rectus

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240
Q

What lenses are used to correct hypermetropia?

A

Convex lenses

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241
Q

Where is the image focused in hypermetropia and myopia?

A
  • hypermetropia (long sight): image is focused behind the retina
  • myopia (short sight): image focused in front of the retina
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242
Q

What lenses are used to correct myopia?

A

Concave

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243
Q

What are the most common causes of amblyopia?

A

Squint, refractive errors, and obstruction to the visual pathway (eg, cataract)

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244
Q

Why does strabismus cause amblyopia?

A

Amblyopia may occur in squint when the brain is unable to combine the markedly differing images from each eye – the vision from the squinting eye is “switched off” to avoid double vision

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245
Q

What is the treatment for amblyopia?

A
  • treat the underlying condition
  • early tx essential: after 7 years old, improvement is unlikely
  • patching the good eye for periods in the day to force the ‘lazy’ eye to work
  • wear appropriate glasses
  • atropine drops in the better eye to dilate the pupil and paralyse accomodation. Makes the other eye work.
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246
Q

What is comitant vs incomitant strabismus?

A

Comitant: angle of deviation is the same in all positions of gaze, and extraocular movements are full

Incomitant: angle of deivation is different in different positions of gaze. Extraocular movements are not full (worse)

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247
Q

Why is incomitant strabismus a worrying sign?

A

May be due to restriction or paralysis of extraocular muscles.

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248
Q

How does palsy of the 3rd cranial nerve present

A
  • down and out
  • upper eyelid ptosis
  • inability to adduct, infraduct, or supraduct
  • dilated pupil with sluggish reaction
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249
Q

How does 6th nerve palsy present

A

inturned eye (esotropia)

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250
Q

What serious conditions can strabismus/amyblyopia suggest in a child?

A

Retinoblastoma, congenital cataract

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251
Q

What is trisomy 21?

A

Down’s Syndrome

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252
Q

What is seen in Tetraology of Fallot?

A

Pulmonary stenosis, Right ventricular hypertrophy, Overriding aorta, Ventricular septal defect (babies with TOF need to PROVe themselves)

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253
Q

What is the first line management of acute status epilepticus?

A

Benzodiazepine

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254
Q

What is the most common cause of haematemesis in children?

A

EPHVO (extrahepatic portal vein obstruction)

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255
Q

What is the typical presentation of EHPVO in children?

A

Child is typically well and the presenting symptom is vomiting out blood. Blood tests are often normal, and the liver is only involved in very advanced cases.

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256
Q

What is leukocoria?

A

Absent red eye reflex

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257
Q

What childhood infection is associated with Koplik spots?

A

Measles

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258
Q

How should a bronchodilator best be delievered to a child under 5?

A

Metered dose inhaler with large-volume spacer

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259
Q

Why are nebulisers less safe than other inhaler options?

A

They produce more hypoxia than bronchodilators with metered dose inhaler with spacer. They are also more expensive!

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260
Q

Why might genetic screening for cystic fibrosis miss some cases?

A

Large variety of mutated genes

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261
Q

What investigation can confirm pancreatic insufficiency in children with cystic fibrosis?

A

Decreased faecal elastase

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262
Q

What is the definition of diarrhoea?

A

change in consistency and frequency of stools with enough loss of fluid and electrolytes to cause illness

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263
Q

What is the most common cause of diarrhoea? What may it present with?

A

Infective gastroenteritis. Usually presents with fever and vomiting

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264
Q

What are the causes of diarrhoea (x9)

A

Infective gastroenteritis, non-enteric infections, food hypersensitivity reactions, NEC, drugs (eg, antibiotics), henoch-schonlein purpura, intussusception, haemolytic-uremic syndrome, pseudomembranous enterocolitis

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265
Q

What is the definition of chronic diarrhoea?

A

Diarrhoea persisting for >14 days

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266
Q

What initial observational assessments should be made for a child presenting with diarrhoea?

A

Hydration and vital signs, pallor, abdominal tenderness, signs of associated illness

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267
Q

What treatment is necessary for mild/moderate dehyration?

A

No tests necessary. Replace fluid and electrolyte losses with oral glucose-electrolyte based rehydration fluid

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268
Q

What investigations + treatment is recommended in severe/shock dehydration?

A

U&E, creatinine, FBC, blood gas, stool M,C&S/virology, tests for specific disease. Then IV fluid and electrolyte replacement.

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269
Q

What are the possible causes of chronic diarrhoea for children aged 0-24 months?

A

Malabsorption, food hypersensitivity, chronic non-specific diarrhoea (toddler diarrhoea), excessive fluid intake, protracted infectious gastroenteritis, immuno-deficiencies, hirschsprung’s disease, tumours, fabricated induced illness

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270
Q

What are the possible causes of chronic diarrhoea in older children?

A

IBD, constipation (impaction), malabsorption, IBS, chronic infections, laxative abuse, excessive fluid intake, fabricated induced illnesses

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271
Q

What can be the aetiology of malabsorption in chronic diarrhoea?

A

Post-infective gastroenteritis syndrome, lactose intolerance, cystic fibrosis, coeliac disease

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272
Q

What investigations should/could be done for chronic diarrhoea?

A

Stool sample (microscopy for bacteria or parasites, leucocytes, fat globules, fatty acid crystals, faecal occult blood), blood (U+Es, FBC, increased CRP/ESR), radiology, breath hydrogen test, GI endoscopy, sweat/genetic testing, rectal biopsy

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273
Q

Why is hydrogen breath test done?

A

Lactose malabsorption or bacterial overgrowth

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274
Q

What is Toddler’s diarrhoea?

A

Chronic non-specific diarrhoea occurring from 6 months to 5 years

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275
Q

What are the possible pathophysiology for chronic diarrhoea?

A

Reduced GI absorptive capacity (eg, coeliac disease), osmotic diarrhoea (lactase deficiency), inflammatory (eg, ulcerative colitis), secretory

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276
Q

How does Toddler’s diarrhoea usually present?

A

With colicky intestinal pain, increased flatus, abdominal distension, loose stools with undigested food (‘peas and carrots’ stools). Child is otherwise well and thriving

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277
Q

What are usually the results of investigations in Toddler’s diarrhoea?

A

Examination and investigations are normal

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278
Q

What is the treatment for Toddler’s diarrhoea?

A

Reassurance: dietary (increased fat intake, normalise fibre intake, less milk, fruit juice and sugary drink intake. Loperamide occasionally may be necessary.

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279
Q

What is encopresis?

A

Voluntary defaecation in unacceptable places, including the child’s pants in older children. No organic abnormality is present – it is a symptom of an emotional disorder

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280
Q

What is the investigations for encopresis?

A

Once organic disease or spurious diarrhoea secondary to constipation with loading are excluded, consider behavioural problems and referral to a child and adolescent psychiatrist

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281
Q

What are the three types of vomiting?

A

Acute, chronic, cyclic

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282
Q

What is the definition of acute vomiting vs chronic?

A

Acute: discrete episode of moderate to high intensity. Most common and usually associated with an acute illness.
Chronic: low-grade daily pattern, frequently with mild illness

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283
Q

What is the definition of cyclic vomiting?

A

severe, discrete episodes associated with pallor, lethargy +/- abdominal pain. The child is well in between episodes

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284
Q

What are the signs of pathologic vomiting in infants?

A

Increased volumes, projectile, green/yellow, signs of illness

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285
Q

What are the differentials for bilious vomiting in infants?

A

Intestinal malrotation with volvulus, atresia/stenosis of the duodenum, Hirschprung’s

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286
Q

What are the differentials for infants with non-bilious vomiting?

A

Hypertrophic pyloric stenosis, annular pancreas

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287
Q

What are the key differentials for infants >3 months and children of vomiting?

A

Gastroenteritis, intussusception, gastroparesis, cyclic vomiting syndrome

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288
Q

What are the differentials for adolescents with vomiting?

A

appendicitis, functional dyspepsia, pregnancy, eating disorders

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289
Q

What are the differentials for cyclic vomiting?

A

idiopathic, CNS disease, abdominal migraine, endocrine, metabolic, intermittent GI obstruction, fabricated illness

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290
Q

What investigations (if any) should be done for acute vomiting?

A

FBC, U&E, Creatinine, Stool for culture and virology, AXR, Surgical opinion if obstruction or acute abdomen possible, Exclude systemic disease

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291
Q

What investigations should be done for chronic vomiting?

A

FBC, ESR/CRP, U&Es,LFTs, Helicobacter pylori serology, urinalysis, abdominal US, small bowel enema, sinus X-rays, test feed or abdominal US for pyloric stenosis, brain imaging (CNS tumour), consider urine pregnancy testing, upper GI endoscopy

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292
Q

What investigations should be done for cyclic vomiting?

A

Serum amylase, serum lipase, blood glucose, serum ammonia

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293
Q

What are possible complications of vomiting?

A
  • metabolic (potassium deficiency, alkalosis, sodium depletion) - nutritional - mechanical injuries to oesophagus and stomach (Mallory-Weiss, Boerhaave’s syndrome, tears of the short gastric arteries resulting in shock) - dental (erosions and cavities) - oesophageal stricture - anaemia
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294
Q

What is the definition of constipation?

A

Infrequent passage of stool associated with pain and difficulty or delay in defecation

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295
Q

What is idiopathic constipation?

A

If it cannot be explained by any anatomical or physiological abnormality

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296
Q

What is possible aetiology of idiopathic constipation?

A

Low fibre diet, lack of mobility and exercise, poor colonic motility

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297
Q

What is the possible GI related aetiology of constipation?

A

Hirschsprung’s disease, anal disease (infection, stenosis, ectopic, fissure, hypertonic sphincter), partial intestinal obstruction, food hypersensitivity, coeliac disease

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298
Q

What are the possible non-GI causes of constipation?

A

Hypothyroidism, hypercalcaemia, neurological disease (eg, spinal disease), chronic dehydration (eg, diabetes insipidus), drugs (eg, opiates and anticholingergics), sexual abuse

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299
Q

What is desensitisation of the rectum?

A

Patients can develop a habit of not opening their bowels when they need to and ignoring the sensation of a full rectum. Over time they loose the sensation of needing to open their bowels, and they open their bowels even less frequently. They start to retain faeces in their rectum

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300
Q

At what time point does constipation become chronic?

A

8 weeks

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301
Q

What is the presentation of constipation?

A

Straining/infrequent stools, anal pain on defecation, fresh rectal bleeding (anal fissure), abdominal pain, anorexia, involuntary soiling (impaction), flatulence, decreased growth, abdominal distension, palpable abdominal masses, anal fissure, abnormal anal tone

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302
Q

What symptoms can be associated with constipation in infants less than 1 year?

A

Poor appetite that improves with the passage of large stool, waxing and waning of abdominal pain with passage of stool, anal pain

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303
Q

What is Hirschsprung’s disease?

A

Congenital aganglionic megacolon

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304
Q

What can ribbon stool pattern indicate?

A

Anal stenosis

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305
Q

What can constipation along with leg weakness or motor delay indicate?

A

neurological or spinal cord abnormality

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306
Q

What are possible complications of constipation?

A

Anal fissure (Cycle of pain can then lead to chronic issues), haemorrhoids, rectal prolapse, megarectum, faecal impaction and soiling, volvulus, distress for child and family

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307
Q

What lifestyle management is required for chronic constipation?

A

Treat underlying cause, dietary improvements (high fibre), behavioural measurements (toilet training measures, such as 5 minute toilet time after meals)

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308
Q

What medical management can be taken for children with chronic constipation where lifestyle factors haven’t made improvements?

A

Faecal softeners (movicol/lactulose), oral stimulant laxatives (senna, sodium picosulphate)

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309
Q

How can faecal impaction be treated?

A

High dosage laxatives, such as movical

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310
Q

How can anal fissures be treated?

A

GTN cream, 2% lidocaine ointment.

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311
Q

What treatments can be given for bowel clean out?

A

Oral magnesium citrate or magnesium phosphate

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312
Q

What are common organic causes of acute abdominal pain in children?

A

GORD, peptic ulcer disease, H pylori infection, food intolerance, coeliac disease, IBD, constipation, UTI, dysmenorrhoea, pancreatitis, hepato-biliary disease

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313
Q

What are alarm symptoms of abdominal pain in children?

A

Involuntary weight loss, deceleration of linear growth, GI blood loss, significant vomiting, chronic severe diarrhoea, persistent right upper or lower quadrant pain, unexplained fever, family hx of IBD, abnormal or unexplained physical findings

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314
Q

What is GORD?

A

GORD occurs when there is an inappropriate effortless passage of gastric contents into the oesophagus. GORD exists where reflux is repeated and severe enough to cause harm.

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315
Q

What are vomiting red flag symptoms?

A

Not keeping any food down, projectile or forceful vomiting, bile stained vomit, haematemesis or melaena, abdominal distension, reduced consciousness/bulging fontanelle (meningitis/raised ICP), blood in stools, signs of infection, rash, apnoeas

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316
Q

What causative (non-pathological) factors is GORD associated with?

A

Slow gastric emptying, liquid diet, horizontal posture, low resting lower oesophageal sphincter

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317
Q

Why is GORD so common in babies??

A

In babies there is immaturity of the lower oesophageal sphincter, allowing stomach contents to easily reflux into the oesophagus. Most infants stop having reflux by 1 year old.

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318
Q

To what degree is GORD common/unproblematic, and when does it become cause for investigations?

A

It is normal for a baby to reflux, especially after large feeds. However, signs of being problematic is when it is causing distress, chronic cough, hoarse cry, reluctance to feed, pneumonia, and poor weight gain

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319
Q

What are some possible pathological causes of GORD?

A

lower oesophageal sphincter dysfunction (eg, hiatus hernia), increased gastric pressure, external gastric pressure, gastric hypersecretion, food allergy, CNS disorder (such as cerebral palsy)

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320
Q

What respiratory symptoms can GORD cause?

A

Apnoea, hoarseness, cough, stridor, lower respiratory disease (aspiration, pneumonia)

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321
Q

What are the key signs of GORD in a history?

A

Effortless regurgitation in relationship to feeds

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322
Q

What are the possible complications of problematic GORD?

A

Oesphageal stricture, Barrett’s oesophagus (premalignant intestinal metaplasia), faltering growth, anaemia, lower respiratory disease, Sandifer’s syndrome

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323
Q

What is Sandifer syndrome?

A

Rare condition causing brief episodes of abnormal movements associated with GORD in infants. Causes paroxysmal spasms of the head, neck, and back arching, but spares the limbs

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324
Q

What are the key features of Sandifer’s syndrome?

A

Torticollis (forceful contraction of the neck muscles causing twisting of the neck), dystonia (abnormal muscle contractions causing twisting movements, arching of the back or unusual positions)

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325
Q

What is the stepwise treatment of GORD

A
  1. Positioning: nurse infants on head-up slope of 30 degrees. Burp regularly to help milk settle
  2. Dietary: thickened milk feeds (infants), small frequent meals, avoid food before sleep + fatty foods
  3. Drugs: gastric acid reducing drugs e.g. H2 receptor antagonists (ranitidine) or omeprazole (if oesophagitis) or Gaviscon
  4. Surgery; if all else fails
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326
Q

What drugs can reduce gastric acid?

A

H2 receptor antagonists (ranitidine), PPIs (eg, omeprazole)

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327
Q

What are the contraindications for antidiarrhoeal medications in paediatrics (and why)?

A

Being under 5 and having D+V caused by gastroenteritis. They have a lack of benefit and cause side effects

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328
Q

What is the common transmission rate for viral gastroenteritis?

A

Faecal-oral route, often contaminated water

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329
Q

What is the most common cause of viral gastroenteritis in children? What are the other possible causes?

A

Rota Virus or norovirus (most common). Also enteric adenovirus, astrovirus, CMV in immunocopromised

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330
Q

What is the paediatric presentation of gastroenteritis?

A

Watery diarrhoea (rarely bloody), vomiting, cramping abdominal pain, fever, dehydration, electrolyte disturbance, upper respiratory tract signs common with rotavirus

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331
Q

What is the treatment for viral gastroenteritis?

A

Give supportive rehydration orally or with a nasogastric tube, or IV glucose and electrolyte solution

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332
Q

When should hospitalisation be considered with viral gastroenteritis?

A

> 10% dehydration, unable to tolerate oral fluids

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333
Q

What viral gastroenteritis may cause long term symptoms?

A

Enteric adenovirus; diarrhoea frequently goes beyond 10 days

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334
Q

What are the common causes of paediatric bacterial gastroenteritis?

A

Salmonella, Campylobacter jejuni, Shigella, Yersinia enterocolitica, E.coli, C.diff,, vibrio cholerae

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335
Q

What is the presentation of bacterial gastroenteritis?

A

Same as viral, plus malaise, dysentery (bloody and mucous diarrhoea), abdominal pain (can mimic appendicitis or IBD), tenesmus

(VIRAL SIGNS: Watery diarrhoea (rarely bloody), vomiting, cramping abdominal pain, fever, dehydration, electrolyte disturbance, upper respiratory tract signs common with rotavirus)

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336
Q

What are the possible complications of bacterial gastroenteritis?

A

Bacteraemia, secondary infections (particularly salmonella, campylobacter), Reiter’s syndrome (Shigella, campylobacter), Guillian-Barre syndrome

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337
Q

What is Reiter’s syndrome?

A

Can’t see, can’t pee, can’t climb a tree (reactive arthritis after an infection)

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338
Q

What investigations need to be done in bacterial gastroenteritis?

A

Stool +/- blood culture, stool C.diff toxin, sigmoidoscopy if IBD or colitis

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339
Q

Are antibiotics used in the treatment of gastroenteritis? If yes, when

A

Antibiotics are not indicated, as the duration of symptoms is not altered and may increase chronic carrier status, unless there is high risk of disseminated disease, presence of artificial implants, severe colitis, severe systemic illness, age <6mths, enteric fever, cholera or E.coli 0157

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340
Q

What is the treatment for campylobacter?

A

Erythromycin

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341
Q

What is the tx for C.Diff?

A

Oral vancomycin or metranidazole

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342
Q

What is a possible side effect of C.diff?

A

Pseudomembranous colitis

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343
Q

What is a possible side effect of E.coli? Why? What treatment should be avoided?

A

Haemolytic uraemic syndrome due to blood cells being destroyed. The use of antibiotics increases the risk of haemolytic uraemic syndrome, therefore antibiotics should be avoided if E. coli gastroenteritis is considered

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344
Q

What causes bacillus cereus infection?

A

Spread through inadequately cooked food. It grows well on food not immediately refrigerated after cooking. The typical food is fried rice left out at room temperature.

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345
Q

What is the disease course of gastroenteritis caused by bacillus cereus?

A

Whilst growing on food it produces a toxin called cereulide. This toxin causes abdominal cramping and vomiting within 5 hours of ingestion. When it arrives in the intestines it produces different toxins that cause a watery diarrhoea. This occurs more than 8 hours after ingestion. All of the symptoms usually resolves within 24 hours.

SHORT COURSE

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346
Q

What bacterial cause of gastroenteritis can particularly cause lymphadenopathy?

A

Yersinia enterocolitica

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347
Q

What specific presentation can Yersinia Enterocolitica cause? What is the key differentiation

A

Older children or adults can present with right sided abdominal pain due mesenteric lymphadenitis (inflammation in the intestinal lymph nodes) and fever. This can give the impression of appendicitis.

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348
Q

How long do children need to be isolated from school after gastroenteritis?

A

48 hours

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349
Q

What electrolyte differences will be seen in secretory diarrhoea?

A

Increased sodium and potassium. Commonly due to salmonella and e.coli

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350
Q

What are the classifications of dehydration in children?

A

Mild (<5%), Moderate (5-10%), Severe (10%)

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351
Q

What is the presentation of children with moderate dehydration?

A

Reduced urine output and dry mucous membranes

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352
Q

What are the red flag features of dehydration?

A

Pale mottled appearance, cool extremities, tachycardia, tachypnoea, hypotension, delayed capillary refill, change in consciousness

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353
Q

How is moderate dehydration managed?

A

Oral rehydration fluids (eg, diorlyte)

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354
Q

How is severe dehydration managed?

A

IV fluids

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355
Q

What is the routine fluid type used in rehydration in children?

A

0.9% NaCl + 5% dextrose with 10mmol KCl

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356
Q

What are the total daily fluid requirements in children?

A

1st 10kg of bodyweight at 100ml/kg/day
2nd 10kg of bodyweight at 50ml/kg/day
Remaining bodyweight at 20ml/kg/day

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357
Q

What are the paediatric electrolyte requirements for sodium and potassium?

A

Sodium: 2-4 mmol/kg/day
Potassium: 1-2 mmol/kg/day

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358
Q

How do you calculate percentage dehydration by weight?

A

Percentage dehydration = ([well weight(kg)-current weight (kg)]/well weight(kg)) x 100

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359
Q

How do you calculate percentage dehydration by clinical assessment?

A

Detectable clinical dehydration, but no red flag symptoms: 5%

Red flag symptoms: 10%

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360
Q

When should a fluid bolus be used before replacement fluids in dehydration?

A

When the child is in signs of shock

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361
Q

How do you calculate fluid deficit?

A

Fluid deficit (mL)= % dehydration x weight (kg) x 10

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362
Q

What is the difference in where crohn’s disease vs ulcerative colitis affects?

A

Crohn’s disease favours the ileum, but can occur anywhere along the intestinal tract. Ulcerative colitis affects the colon only

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363
Q

What are pathological changes to the bowel in Crohn’s?

A

Normal goblet cells, preserved glandular architecture, variable lymphocyte infiltration, granulomas present, transmural granulomatous inflammation. Skip lesions.

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364
Q

What are the pathological changes to the bowel in ulcerative colitis?

A

Depleted goblet cells, crypt abscesses, atrophic glandular architecture, heavy lymphocytic infiltrate, thickened muscularis mucosa

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365
Q

What is the crows NESTS nmemonic in Crohns?

A

N: No blood or mucus
E: Entire GI tract
S: Skip lesions on endoscopy
T: terminal ileum most affected and transmural inflammation
S: Smoking is a risk factor

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366
Q

Where is most affected in Crohn’s?

A

terminal ileum

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367
Q

What is the CLOSE-UP nmeumonic in Ulcerative Colitis?

A

C: continuous inflammation
L: limited to colon and rectum
O: only superficial mucosa affected
S: smoking is protective
E: excrete blood and mucous
U: use aminosaliclyates
P: primary sclerosing cholangitis

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368
Q

What are the general symptoms of Crohn’s disease?

A

Diarrhoea, abdominal pain, weight loss/failure to thrive, systemic symptoms (fatigue, fever, malaise, anorexia)

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369
Q

What are the GI signs of Crohn’s disease?

A

Aphthous ulcers, abdominal tenderness, perianal abscess/fistula/skin tags, anal strictures, abdominal distension, RIF mass

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370
Q

What are the non-GI signs of IBD?

A

finger clubbing, anaemia, erythema nodosum, pyoderma gangrenosum, arthritis, ankylosing spondylitis, eye issues (iritis, conjunctivitis, episcleritis), poor growth, delayed puberty, renal stones

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371
Q

What investigations should be done for Crohn’s?

A

Blood: FBC, ESR, CRP, U+E, LFT, ferritin, B12, folate. Serum serological markers (ASCA)

Stool: faecal calprotectin

Colonoscopy and biopsy (gold standard)

Radiology

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372
Q

What are the possible radiological presentation of Crohn’s disease?

A

Mucosal cobblestone appearance, ulceration, dilatation, narrowed segments, fistula, skip lesions

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373
Q

When are ASCA antibodies present?

A

Crohn’s disease

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374
Q

What is the treatment for Crohn’s disease?

A

Inducing remission: steroids (oral prednisolone or IV hydrocortisone). If insufficient, add immunosuppressant medication (azathioprine, methotrexate, infliximab).

Maintaining remission: first line; azathioprine

Surgery can treat strictures and fistulas.

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375
Q

What is the presentation of ulcerative colitis?

A

Episodic/chronic diarrhoea, crampy abdominal discomfort, bowel frequency dependent on severity, urgency/tenesmus, systemic features. Blood and mucus in excretions

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376
Q

What GI condition is co-morbid with primary sclerosing cholangitis?

A

Ulcerative colitis

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377
Q

What is seen on histology for UC?

A

crypt abscesses, mucosal inflammation only, goblet cell depletion

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378
Q

What bacteria should be excluded via a stool sample in IBD?

A

Campylobacter, C.diff

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379
Q

What is seen on radiology in U.C?

A

Mucosal ulceration, haustration loss, colonic narrowing +/- shortening

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380
Q

What is the treatment for U.C?

A

Mild/moderate: 5-ASA (mesalazine) is 1st line. Can be used to maintain remission

Severe: Prednisolone to induce remission

Maintaining remission: mesalazine, azathioprine. Infliximab in severe cases

Surgery

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381
Q

What is erythema nodosum?

A

tender, red nodules on the shins caused by inflammation of the subcutaneous fat

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382
Q

What is pyoderma gangrenosum?

A

Rapidly enlarging, painful skin ulcers

383
Q

What is coeliac disease?

A

An enteropathy due to life long intolerance to gluten protein

384
Q

What is the pathology of coeliac disease?

A

Exposure to gluten causes immune reaction leading to inflammation in the small intestine. T-cell responses to gluten; create autoantibodies, target the small bowel causing villous atrophy and malabsorption.

385
Q

What are the RF for coeliac disease?

A

Positive FHx, T1DM, Down Syndrome, IgA deficiency

386
Q

What is the classic presentation of coeliac disease?

A

Pallor, diarrhoea, steatorrhoea, anorexia, irritability, ulcers, dermatitis herpetiformis

387
Q

What are the later symptoms of coeliac disease?

A

Apathy, gross developmental delay, ascites, peripheral oedema, anaemia, delayed puberty, arthralgia, hypotonia, muscle wasting, specific nutritional disorders

388
Q

What is coeliac crisis?

A

A life threatening dehydration due to diarrhoea accompanying malabsorption

389
Q

Why should children be tested for IgA when they are tested for coeliac disease?

A

Because if they are IgA deficient they will not produce the usual tTG antibodies, and there may be a false negative

390
Q

What antibodies are checked in coeliac disease?

A

Serum tissue transglutaminase IgA antibody

391
Q

What is the gold standard diagnostic test for coeliac disease

A

Duodenal biopsy (must maintain high gluten diet or may be false negative!). PArticularly the third part of the duodenum

392
Q

What will be shown on a duodenal biopsy for coeliac disease?

A

Diffuse, subtotal villous atrophy, increased intraepithelial lymphocytes, crypt hyperplasia

393
Q

Why is there malabsorption of nutrients in coeliac disease?

A

Atrophy of the intestinal villi

394
Q

What part of the bowel is most affected in coeliac disease?

A

Jejunum

395
Q

What other condition should always be checked for after a diagnosis of T1DM?

A

Coeliac disease

396
Q

What is Dermatitis herpetiformis and what condition is it associated with?

A

Itchy, blistering skin rash. Associated with coeliac disease

397
Q

What is Hirschsprung’s disease?

A

Birth defect characterised by the absence of ganglions in a segment of the bowel of an infant. Causes peristalsis

398
Q

What chromosomal deficiency is associated with Hirschspring’s disease?

A

Trisomy 21

399
Q

What is IBS?

A

A mixed group of abdominal symptoms of which no organic cause can be found. Diagnosis of exclusion

400
Q

When do symptoms become chronic in IBS?

A

After 6 months

401
Q

What is the diagnostic criteria for IBS?

A

Recurrent abdominal pain associated with at least 2 of:
- relief by defecation
- altered stool form
- altered bowel frequency (constipation/diarrhoea)

402
Q

What are the common causes of poor feeding in children?

A

MOST COMMON: premature birth

Traumatic birth injuries leading to neurological disorders, cleft lip/palate, autism, neck and head abnormalities, low birth weight, respiratory problems, heart disease

403
Q

What is the definition of failure to thrive?

A

Failure to grow at the expected rate (growth falls away from the standardised centiles).

404
Q

What is the most sensitive indicator of growth in infants vs older children?

A

Weight in infants/young children, height in older children

405
Q

What is the main cause of failure to thrive?

A

Not enough food being offered or taken. Often, poverty is the cause

406
Q

What are the categories of causes of failure to thrive?

A

Decreased appetite, inability to ingest, excessive food loss, malabsorption and impaired utilization, increased energy requirements

407
Q

What are the causes of excessive food loss in FTT?

A

Severe vomiting (GORD, pyloric stenosis, dysmotility), diabetes mellitus

408
Q

What are the causes of malabsorption and impaired utilization in FTT?

A

Cystic fibrosis, coeliac disease, cow’s milk intolerance, chronic diarrhoea, inflammatory bowel disease, pancreatic insufficiency, inborn errors of metabolism, TD1M

409
Q

What are the causes of increased energy requirements in FTT?

A

Congenital heart disease, cystic fibrosis, malignancy, sepsis, hyperthyroidism, chronic infection (including UTI!!), TORCH infecitons, CKD

410
Q

What change in percentile is required to define a child as failure to thrive, if they were between the 9th and 91st centile?

A

Two or more centile spaces

411
Q

What is the minimum amount of feed that should be given to babies per day?

A

150ml/kg/day

412
Q

What diseases should always be specifically checked for as causes of failure to thrive?

A

Urine dipstick for UTI, and coeliac screen (anti-TTG). Also just always check the baby is being fed the right amount! Detailed food diary

413
Q

What are possible causes of nutritional disorders in children?

A
  • diets low in protein, energy, or specific nutrients
  • fad or vegetarian diets
  • diseases causing malabsorption, severe GORD, immunodeficiency, chronic infection
  • eating disorders
414
Q

Why is mid-upper arm circumference a better indicator of malnutrition than weight?

A

Because oedema can skew the child’s weight to make them appear heavier than they are

415
Q

What is Kwashiorkor disease?

A

A form of severe protein malnutrition characterised by oedema and an enlarged liver with fatty infiltrates

416
Q

What is the cause of Kwashiorkor disease, and what is the difference from maramus?

A

Kwashiorkor: sufficient calorie intake, insufficient protein intake

Marasmus: insufficient calories, insufficient protein

417
Q

What are the clinic features of Kwashiorkor disease?

A

Growth retardation, diarrhoea, apathy, anorexia, oedema, skin/hair depigmentation, abdominal distension with fatty liver

418
Q

What are the typical findings in investigation for Kwashiorkor disease?

A

Hypoalbuminaemia, normo- and microcytic anaemia, low calcium + magnesium + phosphate + glucose

419
Q

What is Maramus?

A

A nutritional deficiency where there is inadequate energy intake in all forms, including protein

420
Q

What are the clinical features of marasmus?

A

Height preserved compared to weight, wasted appearance, muscle atrophy, listless, diarhoea, constipation

421
Q

When should babies be back to their birth weight by?

A

Day 10; if not, need admission to hospital for investigations

422
Q

What needs to be cautiously avoided when treating nutritional deficiencies?

A

Re-feeding syndrome

423
Q

What is haeatochezia?

A

Passage of fresh blood per the anus

424
Q

What is pyloric stenosis?

A

The pylorus of the stomach enlarges as a result of hypertrophy of the circular muscle to produce the typical ‘tumour’

425
Q

What population is pyloric stenosis most common in?

A

White males

426
Q

What are the common clinical features of pyloric stenosis?

A
  • projectile vomiting
  • constipation (dry nappies)
  • dehydration, malnutrition, jaundice
427
Q

What are the features of the vomiting in pyloric stenosis?

A

Projectile, starting in the 3rd-4th week of life. Non-bilious, but may contain some blood. Usually within an hour of feeding

428
Q

When does pyloric stenosis present?

A

Within the first 12 weeks

429
Q

What is done to diagnose pyloric stenosis typically?

A

Test feed; baby feeds whilst the examiner palpates the baby’s abdomen. Visible waves of peristalsis may be seen passing the upper abdomen. Pyloric tumour can usually be felt early in the feed or just after the baby has vomited

430
Q

How is the pyloric tumour usually felt in pyloric stensosi?

A

Firm, olive shaped mass, just above and to the right of the umbilicus during the test feed.

431
Q

If the pyloric tumour cannot be felt in pyloric stenosis, what is the next investigation?

A

Ultrasound

432
Q

What is the typical biochemical abnormality seen in pyloric stenosis?

A

Hypochloraemic, hypokalaemic metabolic alkalosis

433
Q

What surgery is done to correct pyloric stenosis?

A

Ramstedt’s pyloromyotomy; involves splitting the thickened pyloric muscle

434
Q

What is the pre-operative management for pyloric stenosis?

A
  • rehydrate and correct the alkalosis before surgery
  • start IV fluids: 0.45% saline with 5% dextrose and 20mmol/L potassium chloride at 120 ml/kg/day
  • without feeds
  • monitor electrolytes and capillary blood pH
435
Q

What is the pathophysiology of Hirschsprung’s disease?

A

Failure of myentric plexus parasympathetic ganglion cells to migrate to the hindgut. Leads to an absence of co-ordinated bowel peristalsis and functional intestinal obstruction at the junction (‘transition zone’) between normal bowel and distal aganglionic bowel

436
Q

What is the transition zone in Hirschsprung’s disease?

A

Junction between the neuroanatomically normal ganglionic colon, and the aganglionic segment

437
Q

What is the difference between short segment disease and long segment disease in Hirschsprung’s? Which is more common?

A

Short segment; the transition zone is in the rectum or sigmoid (80% cases). Long segment; the entire colon is involved (20% cases).

438
Q

What is the typical presentation of Hirschsprung’s disease? When does it present?

A

Typically presents in the first few days of life. Low intestinal obstruction; failure to pass meconium, abdominal distension, bile-stained vomiting

439
Q

What is the gold standard of diagnosing Hirschsprung’s disease?

A

Rectal biopsy (no ganglion cells in the submucosa). Can also do a abdominal xray, which will show the obstruction

440
Q

What is a possible serious complication of Hirschsprung’s disease? What bacteria is it usually associated with?

A

Enterocolitis; a dramatic gastroenteritic illness characterised by abdominal distension, bloody watery diarrhoea, circulatory collapse, septicaemia. Usually associated with C.Difficile.

441
Q

What specific cells have not migrated in Hirschsprung’s?

A

Myenteric plexus parasympathetic ganglion cells

442
Q

What is the definitive treatment for Hirchsprung’s?

A

Surgery

443
Q

What is intussusception?

A

When one segment of the intestine telescopes inside of another, causing an intestinal obstruction

444
Q

Where does intussusception typically occur?

A

Junction between the small and large intestines

445
Q

What age of children are typically affected by intussception?

A

Between 6 and 24 months

446
Q

What is the typical presentation of intussusception?

A

Spasms of colic associated with pallor, screaming, drawn up legs. Child asleep between episodes. As intestinal obstruction progresses, bile stained vomiting and rectal bleeding develops (red currant jelly stools).

447
Q

What is the pathophysiology of intussusception?

A

Enlarged peyer’s patch in the ileum acts as the lead point that invaginates into the distal bowel. Causes small bowel obstruction. Bowel becomes engorged, causing rectal bleeding. Following this perforation and peritonitis occurs

448
Q

What is the most common site of intussusception?

A

Ileocaecal

449
Q

What typically precedes intusussception and why?

A

Viral gastroenteritis, as it causes the enlargement of peyer’s patch, which acts as a lead point

450
Q

What is seen on ultrasound in intussussception?

A

Target sign

451
Q

What may be felt on physical examination for intussussception?

A

Sausage shaped abdominal mass

452
Q

What is most likely to be the cause of intussusception in older children?

A

A pathological lead point, such as a polyp or Meckel’s diverticulum

453
Q

What is the management of intussusception?

A
  • Resuscitation: large volumes of IV fluid needed to restory perfusion
  • antibiotics
  • analgesia
  • pneumatic reduction (air pumped into colon to force bowel into normal shape)
  • if the above fails, laparotomy
454
Q

What is Peyer’s patch?

A

Groupings of lymphoid follicles in the mucus membrane that lines the small intestine in the ileum

455
Q

What should be suspected in an infant with gastroenteritis who is not getting better, unusually miserable, vomiting bile/ has blood in stool?

A

Intussusception

456
Q

What is the first line investigation for intussusception?

A

Ultrasound

457
Q

What is Meckel’s diverticulum?

A

Presence of the vitellointestinal duct (joins yolk sac to gut development) that usually involutes

458
Q

What is the rule of 2s in Meckel’s diverticulum

A

2% of the population, within 2 feet of the ileocaecal valve, 2 inches in length, presentation before the age of 2, 2% are symptomatic, men twice as commonly as women, 2 types of tissue (gastric mucosa and pancreatic tissue)

459
Q

What is the most common cause of rectal bleeding in children?

A

Meckel’s diverticulum

460
Q

What is the common presentation of Meckel’s diverticulum?

A

GI bleeding (presents as painless, fresh, and sufficient enough to cause a drop in Hb), obstruction, inflammation

461
Q

What is the diagnostic method for Meckel’s diverticulum, and why is it used?

A

Technetium 99 scan: has an affinity for gastric mucosa

462
Q

When should Meckel’s diverticulum be treated?

A

Symptomatic, or narrow neck

463
Q

What is meconium ileus?

A

Bowel obstruction that occurs when the meconium in a child’s intestine is thicker and stickier than normal meconium, creating a blockage in the ileum.

464
Q

What is the most common cause of meconium ileus?

A

Cystic fibrosis

465
Q

How is meconium ileus diagnosed? How does it appear?

A

Abdominal x-ray, shows characteristic findings of bubbly appearance with a lack of fluid air levels

466
Q

Why does CF cause meconium ileus?

A

Lack of pancreatic enzymes results in meconium that is thick and viscous causing an intraluminal obstruction in the terminal ileum. Babies then present at birth with intestinal obstruction

467
Q

What is the treatment for meconium ileus?

A

Gastrografin enema (provided no evidence of perforation); draws fluid into the bowel lumen. If not, laparomoty

468
Q

What is the most common abdominal emergency in children?

A

Acute appendicitis

469
Q

What are the possible causes of appendicitis, and the most common one?

A

Faecolith (most common), tumour, intestinal parasites, hypertrophied lymphatic tissues

470
Q

What is the disease course of appendicitis?

A

Begins with obstruction of the lumen of the appendix, often by a faecolith, causing vague central abdominal pain. Then full inflammatory process begins involving the full thickness of the wall. Irritation of the peritoneum results in more severe abdominal pain localised to the right iliac fossa

471
Q

What is the typical presentation of appendicitis?

A
  • abdominal pain; starts centrally, moves to RIF. Tender over McBurney’s point
  • loss of appetitie
  • N+V
  • Rovsig’s sign
  • guarding on abdominal palpation
  • rebound tenderness
472
Q

What does rebound tenderness and percussion tenderness suggest (in the context of appendicitis)?

A

Peritonitis, caused by a ruptured appendix

473
Q

What is Rovsig’s sign?

A

Palpation of the LIF causes pain in the RIF

474
Q

What are the differentials of appendicitis?

A

ectopic pregnancy, ovarian cysts, mesenteric adentitis, appendix mass

475
Q

What is the treatment of appendicitis?

A

Appendicetomy

476
Q

What is the diagnosis of appendicitis?

A
  • ultrasound or CT
  • generally clinical diagnosis; if suggested clinically but negative investigations, should do diagnostic laproscopy
477
Q

What is the most common groin hernia in children?

A

Indirect inguinal hernia

478
Q

What is a hernia?

A

Occur when there is a weak point in a cavity wall, usually affecting the muscle or fascia. This weakness allows a body organ that would normally be contained within that cavity to pass through the wall

479
Q

What are the three key complications of hernias?

A

Incaceration, obstruction, strangulation

480
Q

What is incaceration of a hernia?

A

Where a hernia cannot be reduced back into the proper position (irreducible). The bowel is then trapped in the herniated position. This can lead to obstruction and strangulation

481
Q

What is hernia strangulation?

A

Where a hernia is non-reducible, and the base of the hernia becomes so tight it cuts off the blood supply, causing ischaemia. Presents with significant pain and tenderness at the hernia site. Surgical emergency

482
Q

Is a hernia with a wide or narrow neck more risky?

A

Narrow; if it has a wide neck, there is less risk of complications. More contents can easily pass through, but also be easily put back

483
Q

What is Richter’s hernia? Why are they high risk?

A

Where only part of the bowel wall and lumen herniate through, the other side remaining in the peritoneal cavity. If they become strangulated, progress rapidly to ischaemia + necrosis.

484
Q

What is Maydl’s hernia?

A

Where two different loops of bowel are contained within the hernia

485
Q

What is the difference in direct and indirect inguinal hernias?

A

Indirect: projects through the inguinal ring (lateral to epigastric vessels)

Direct: projects through abdominal wall (medial to epigastric vessels)

486
Q

Which side are inguinal hernias more common in boys?

A

Right, due to the later descent of the right testis

487
Q

What specific finding indicates indirect inguinal hernia rather than direct?

A

When an indirect hernia is reduced and pressure is applied (with two fingertips) to the deep inguinal ring (at the mid-way point from the ASIS to the pubic tubercle), the hernia will remain reduced

488
Q

What causes indirect inguinal hernia?

A

Due to fetal development. The processus vaginalis is a pouch of peritoneum that extends from the abdominal cavity through the inguinal canal. This allows the descent of testes (from abdominal cavity into scrotum). Normally, after they descend, the deep inguinal ring closes and the processus vaginalis is obliterated. However, in some patients this remains intact, leaving a tract from the abdominal contents. Bowel can herniate along this tract.

489
Q

What causes direct inguinal hernias?

A

Weakness in the abdomen at Hesselbach’s triangle. Pressure over the deep inguinal ring doesn’t stop the herniation.

490
Q

What is the treatment of a incarcertated hernia?

A

resuscitation of the child and then reduction of the hernia by taxis (gentle but sustained pressure is applied to the sac to reduce the contents). IF it cannot be reduced, emergency surgical exploration is necessary

491
Q

What is the management of umbilical hernia?

A

Most will close spontaneously during the first few years of life, regardless of size. If it fails to close by 5 years, surgical repair can be done.

492
Q

What population are umbilical hernias most common in?

A

Afro-caribbean children

493
Q

What are diaphragmatic hernias?

A

true diaphragmatic hernias are caused by the herniation of abdominal contents through a pathological defect in the diaphragm muscle.

493
Q

What is Bochdalek hernia?

A

Diaphragmatic hernia, which is postero-lateral

494
Q

What is the most common diaphragmatic hernia?

A

Bochdalek

495
Q

What is a serious association of diaphragmatic hernias?

A

Pulmonary hypoplasia (incomplete development of the lungs), due to compression of the lung during development

496
Q

How are most congenital diaphragmatic hernias diagnosed?

A

Antenatal ultrasound

497
Q

What is the prognosis of congenital diaphragmatic hernia if dx antenatally vs birth vs coincidental?

A

Antenatal: 20% survival
Birth: 60% survival
Coincidental: V.high

498
Q

What is hiatus hernia?

A

HH refers to herniation of the stomach into the chest through the oesophageal hiatus in the diaphragm. The lower oesophageal sphincter also moves and becomes incompetent

499
Q

Where should be the diaphragmatic opening be in relation to the oesophageal sphincter?

A

At the level of the lower oesophageal sphincter and be fixed in place. It should also be narrow to stop herniation.

500
Q

What are the types of hiatus hernia, and which is the most common?

A

Sliding (most common), rolling (rarer), combination

501
Q

How does hiatus hernia typically present?

A

Indigestion, heartburn, acid reflux, reflux of food, burping, bloating, halitosis (bad breath)

502
Q

How are hiatus hernias diagnosed?

A

Radiologically via barium meal

503
Q

What is the treatment for hiatus hernia?

A
  • conservative (management of GOR)
  • surgical if high risk of complications or severe symptoms; laproscopic fundoplication
504
Q

What is colic?

A

When an infant who isn’t sick or hungry cries for more than 3 hours a day, more than 3 days a week, for more than 3 weeks

505
Q

What is the cause of colic?

A

Generally unknown. Should rule out underlying organic disease such as constipation, GOR, lactose intolerance, etc.

506
Q

When does colic usually settle by?

A

6 months of age

507
Q

What is the pathophysiology of Cow’s milk allergy?

A

Can be IgE mediated, in which case there is a rapid reaction to cow’s milk, occuring within 2 hours of ingestion due to histamine release. Non IgE can also occur, which means the reaction occurs over a few days.

508
Q

What is the general presentation of cow’s milk allergy?

A

Depends where the allergic inflammation is.

Upper GI: vomiting, feeding aversion, pain
Small intestine; diarrhoea, abdominal pain, failure to thrive
Large intestine; diarrhoea, acute colitis with blood and mucus in stools

General allergy: urticarial rash (hives), angio-oedema (facial swelling), cough or wheeze, sneezing

509
Q

Why might cow’s milk protein allergy occur in breast fed babies?

A

The reaction is to cow’s milk protein secreted into breast milk following maternal ingestion

510
Q

What is the first stage of treating cow’s milk protein allergy?

A

Limit milk protein intake; in breast fed infants, this is via maternal exclusion diet, and in formula fed insants, feed via hydrolysed formula (short peptides).

511
Q

Why should milk substitutes not be used as treatment for cow’s milk protein allergy?

A

Avoid using goat’s or sheep’s milk as a cow’s milk substitute, as 25% will also develop allergy to these milks (cross-reactivity). Similar cross-reactivity also often occurs with soya milk (use not recommended under 6mths)

512
Q

What is hydrolysed formula, and what are the types? Why don’t they cause a reaction?

A

They contain cow’s milk, but the proteins have been broken down so they no longer trigger an immune response. In severe cases, infants may require elemental formulas made of basic amino acids.

513
Q

What is the long term treatment of cow’s milk protein allergy?

A

Often, children outgrow the condition by age 3 or earlier. Every 6 months, infants can be tried on the first step of the milk ladder (cookie/biscuit)

514
Q

What is the milk ladder?

A

cookie -> muffin -> pancake -> cheese -> yoghurt -> pasteurised milk

515
Q

What is Alpha1-antitrypsin deficiency?

A

deficiency of a protein that is responsible for controlling inflammatory cascades. Affects the lungs and liver, causing excess breakdown of tissue

516
Q

What is the inheritance of A1AT deficiency?

A

Autosomal dominant

517
Q

What is the commonest genetic cause of liver disease in children? What chromosome?

A

Autosomal dominant, chromosome 14

518
Q

What is the gene affected in A1AT deficeicny?

A

SERPINA1

519
Q

What is the typical presentation of A1AT deficiency?

A

Cholestasis in infancy, may progress to liver failure
Cirrhosis can occur in late childhood to adult. Chronic liver disease affects 25% of patients in late adulthood.
Pulmonary emphysema is the commonest presentation in adulthood

520
Q

What is Kayser-Fleischer rings indicative of?

A

Wilson’s disease (copper deposits in the eye). Found via slit lamp

520
Q

What is Wilson’s disease?

A

Disorder leading to a toxic accumulation of copper in the liver, and in other tissues such as the brain and eye

521
Q

What is the inheritance of Wilson’s disease?

A

autosomal recessive

522
Q

What is the typical first presentation of Wilson’s disease? What are other possible presentations

A

Liver problems usually arise first. Rarely it can present initially with neurological or psychiatric problems, although these typically occur with more advanced disease.

Copper deposition in the liver leads to chronic hepatitis, eventually leading to cirrhosis. Copper deposition in the central nervous system can lead to neurological and psychiatric problems.

523
Q

How is Wilson’s disease diagnosed?

A

Serum caeruloplasmin; if low, indicates Wilson’s, as little is being carried in the blood. Additionally, liver biopsy, and 24 hour urine copper assay

524
Q

What is the treatment of Wilson’s disease?

A

Copper chelation using either pencillamine or trientine

525
Q

What is biliary atresia?

A

Childhood disease of the liver in which one or more bile ducts are abnormally narrow, blocked, or absent

526
Q

What is the pathophysiology of biliary atresia?

A

When a baby has biliary atresia, bile flow from the liver to the gallbladder is blocked. This causes the bile to be trapped inside the liver, quickly causing damage and scarring of the liver cells (cirrhosis), and eventually liver failure

527
Q

Which populations are more likely to be affected by biliary atresia?

A

More women than men, and more african americans

528
Q

What is the presentation of biliary atresia, and when do these symptoms usually appear?

A
  • typically appear within the first two weeks to two months of life
  • jaundice
  • dark urine
  • alcoholic stools
  • weight loss and irritability
  • enlarged liver
529
Q

What causes jaundice?

A

Very high bilirubin pigments in the blood stream

530
Q

Why do newborns often have jaundice, and when does it usually resolve by?

A

Due to an immature liver, and the fragile red blood cells in newborns that break down rapidly, and release lots of bilirubin. Usually goes away within the first week- 10 days of life

531
Q

When does jaundice due to biliary atresia usually develop?

A

Baby appears normal when born, develops at two or three weeks after birth

532
Q

Why do babies with jaundice often have dark urine and light stools?

A

Dark urine is due to a build up of bilirubin in the blood, which is filtered by the kidney and removed in the urine. Acholic stools are due to there being no bile or bilirubin colouring being emptied into the intestine

533
Q

What is the investigations for biliary atresia?

A
  • blood tests for LFTs
  • xrays: look for enlarged liver and spleen
  • abdominal ultrasound
  • liver biopsy
  • radioisotope scan will highlight the liver but poor excretion into the bowel
534
Q

What is cholestasis?

A

Where bile cannot be transported from the liver to the bowel

535
Q

What causes pre-heptic jaundice?

A

Excessive haemolysis taking place, liver unable to conjugate all excess bilirubin. High levels of unconjugated bilirubin

536
Q

What causes hepatic jaundice?

A

Reduced hepatocyte function, meaning bile is not conjugated properly

537
Q

What causes post hepatic jaundice?

A

Obstruction of bile drainage

538
Q

What can confirm diagnosis of biliary atresia?

A

Diagnostic surgery; cholangiogram

539
Q

What is the treatment for biliary atresia?

A

Kasai procedure; re-establishes bile flow from the liver into the intestine

540
Q

What is neonatal hepatitis syndrome?

A

Inflammation of the liver that occurs only in early infancy

541
Q

What should be done if there is jaundice in the first 24 hours of life?

A

This is pathological, and often can indicate neonatal sepsis, so needs urgent investigations and management

542
Q

What are the possible causes of neonatal jaundice; increased production?

A
  • haemolytic disease of the newborn
  • ABO incompatability
  • haemorrhage
  • intraventricular haemorrhage
  • cephalo-haematoma
  • polycythaemia
  • sepsis
  • G6PD deficiency
543
Q

What are the possible causes of neonatal jaundice; decreased clearance of bilirubin?

A
  • prematurity
  • breast milk jaundice
  • neonatal cholestasis
  • extrahepatic biliary atresia
  • endocrine disorders
  • Gilbert syndrome
544
Q

When is jaundice prolonged in babies?

A
  • more than 14 days in full term babies
  • more than 21 days in premature babies
545
Q

What serious complication can be caused due to excessive bilirubin levels? Why does it develop?

A

Kernicterus; type of brain damage. Due to bilirubin being able to cross the blood-brain barrier, and damaging the CNS.

546
Q

How does kernicterus present?

A

Less responsive, floppy, drowsy baby with poor feeding

547
Q

What is the presentation of neonatal hepatitis syndrome?

A

Jaundice that appears at one or two months, not gaining weight or growing normally, hepatosplenomegaly

548
Q

What is the aetiology of neonatal hepatitis?

A

CMV, rubella, HeP A/B/C. Due to being infected by the virus before birth via their mother, or shortly after birth

549
Q

How can the presentation of biliary atresia and neonatal hepatitis be distinguished?

A

An infant with biliary atresia also has jaundice and an enlarged liver but is growing well and does not have an enlarged spleen. These symptoms, along with a liver biopsy and blood tests, are needed to distinguish biliary atresia from neonatal hepatitis

550
Q

What is the investigations for neonatal hepatitis, and what is often found?

A

Liver biopsy. Will show 4 or 5 liver cells combined into a large cell that doesn’t function as well as a normal liver cell (can be called giant cell hepatitis).

551
Q

What is the difference in prognosis for neonatal hepatitis for Hep A vs Hep B and C?

A

Neonatal hepatitis caused by the hepatitis A virus usually resolves itself within six months, but cases that are the result of infection with the hepatitis B or C viruses most likely will result in chronic liver disease

552
Q

What are possible causes of chronic liver failure in children?

A
  • chronic hepatitis (after viral hepatitis B or C)
  • biliary tree disease (eg, biliary atresia)
  • alpha1-antitrypsin deficiency
  • autoiummune hepatitis
  • wilson’s disease
  • cystic fibrosis
  • primary sclerosing cholangitis
  • Budd Chiari syndrome
553
Q

What is the presentation of chronic liver failure in children?

A

Jaundice, GI haemorrhage (due to portal hypertension and variceal bleeding), pruritus, failure to thrive, anaemia, enlarged hard liver, non-tender splenomegaly, hepatic stigmata, ascites, nutritional disorders, developmental delay

554
Q

Why does liver failure affect nutrition?

A

Due to affecting protein metabolism, which occurs in the liver (specifically deamination of AA, urea formation for removal of ammonia, plasma protein synthesis)

555
Q

What does raised ALT/ AST levels indicate?

A

hepatocellular injury (high levels in inflammation or damage)

556
Q

What causes raised ALP?

A

Derived from biliary epithelial cells and bones; so can be caused by cholestasis or bone disease

557
Q

What level of bilirubin is usually needed to see jaundice?

A

When it exceeds 50 micromol/L

558
Q

What is volvulus?

A

Volvulus is a condition where the bowel twists around itself and the mesentery that it is attached to. Leads to closed-loop bowel obstruction, and can cause ischaemia and necrosis

559
Q

Where does volvulus usually occur in paediatric patients?

A

Caecum

560
Q

What is the possible causes of intestinal obstruction?

A

Meconium ileus, Hirschsprung’s disease, oesophageal atresia, duodenal atresia, intussusception, imperforate anus, malrotation of the intestines with volvulus, strangulated hernia

561
Q

What is the presentation of intestinal obstruction?

A

Persistent vomiting, often bilious. Abdominal pain and distention, failure to pass stools or wind, abnormal bowel sounds

562
Q

What is the diagnosis method for intestinal obstruction?

A

Abdominal xray

563
Q

What is malrotation?

A

Failure in embryonic development, mesentery doesn’t fix, meaning predisposition to volvulus

564
Q

What condition is presumed if an infant presents with bilious vomiting?

A

Volvulus secondary to malrotation

565
Q

Why may children develop lactose intolerance following viral gastroenterititis?

A

Diarrhoea causes the lactase enzyme in the brush border of the colon to be sloughed off

566
Q

What is enuresis and the treatments?

A

Failure to stay dry. 1) enuresis alarm 2) desmopressin

567
Q

What is septic arthritis?

A

Infection of the surface of the cartilage that lines the joint and the synovial fluid that lubricates the joint

568
Q

What population does septic arthritis generally affect?

A

boys under 2

569
Q

What is the most common causative organism of septic arthritis?

A

S.aureus

570
Q

What are the common causative organisms of septic arthritis for <12 months?

A

S.aureus, group B streptococcus, gram negative bacilli, candida albicans

571
Q

What are the common causative organisms of septic arthritis 1-5 years?

A

S.aureus, haemophilus influenzae, group A strep, s.pneumoniae, neirsseria gonorrhoeae (child abuse)

572
Q

What are the common causative organisms of septic arthritis (5-12 years)?

A

S.aureus, Group A strep

573
Q

What are the common causative organisms of septic arthritis 12-18 years old?

A

Neisseria gonorrhoeae (sexually active)

574
Q

What joints are most commonly affected in septic arthritis?

A

75% in the lower limb. Knee > hip > ankle

575
Q

Where can infection in septic arthritis spread from?

A

Can develop from osteomyelitis (especially in neonates due to trans-epiphyseal vessels), haematogenous spread of infection, direct inoculation

576
Q

What is the general presentation of septic arthritis? Infants vs older child

A
  • infants: 50% don’t have a fever and don’t appear ill. Consider as a differential
  • older children: acute onset. Hot, red, swollen and painful joint. Refusing to weight bear, stiffness and reduced range of motion. Systemic symptoms such as fever, lethargy, sepsis
577
Q

What are the investigations for septic arthritis? What is the gold standard?

A
  • GOLD standard: joint aspiration. Send aspirate for MC&S
  • blood: FBC, ESR, CRP, blood culture
  • xray of joint: normal initially, joint space narrowing and erosive changes
  • US: detect effusion and guide aspiration
  • MRI: to exclude osteomyelitis
578
Q

When would a lumbar puncture in septic arthritis? Why?

A

If septic joint with h.influenzae. Increased incidence of meningitis

579
Q

What is the management of septic arthritis?

A
  • medical: IV abx after aspirate taken for 3 weeks, then oral abx for 4-6 weeks
  • surgical: early referral to orthopaedic team
  • splintage
  • physiotherapy
580
Q

What are the possible complications of septic arthritis?

A

Can destroy the joint and cause serious systemic illness. Hip joint infection has the worst prognosis; avascular necrosis of the femoral head can occur

581
Q

What is osteomyelitis?

A

infection in the bone, that can include the periosteum, medullary cavity, and cortical bone

582
Q

What is the most common causative organism of osteomyelitis?

A

S.aureus

583
Q

What is the metaphysis of the bone?

A

The region where the epiphysis joins the diaphysis

584
Q

How do most osteomyelitis infections enter the bone?

A

Most infections are spread via the haematogenous route from a 1° degree of entry e.g. respiratory. May also enter through open fractures/open wounds

585
Q

What are the risk factors for osteomyelitis?

A

Open bone fracture, orthopaedic surgery, immunocompromised, sickle cell anaemia, HIV, TB, diabetes, peripheral arterial disease, chronic joint disease

586
Q

What bones are principally affected in osteomyelitis?

A

Long bones; tibia > femur > humerus

587
Q

What is the general presentation of osteomyelitis?

A

Pain, limping, refusal to walk/weight bear, fever, malaise, flu-like symptoms, overlying may be tender with/without swelling

588
Q

What is the investigations for osteomyelitis?

A

Blood: FBC, ESR, CRP, blood cultures
Bone XRay
US-guided aspiration for MC&S
MRI (gold standard for diagnosis)
Bone scans
Open biopsy

589
Q

What is seen on an xray in osteomyelitis?

A

Often normal in early stages. Late stages may have metaphyseal rarefaction. Destructive changes may appear in the bone after 10 days

590
Q

What is the best way to establish a diagnosis of osteomyelitis?

A

MRI

591
Q

What is the general management for osteomyelitis?

A

Antibiotics: 1st line IV flucloxacillin, clindamycin if penicillin allergic. Surgical: drainage and debridement

592
Q

What group of disorders should be considered in a child presenting with knee pain?

A

Hip disorders

593
Q

What are the risk factors of developmental dysplasia of the hip?

A
  • FHx
  • Female
  • Left > Right
  • Breech presentation
594
Q

What two investigations are done in the NIPE for developmental dysplasia of the hip?

A

Ortolani, and barlow

595
Q

What is the aetiology of developmental dysplasia of the hip?

A
  • Capsule laxity: increased type III collagen, maternal oestrogens
  • Decreased intrauterine volume: breech position, first born, oligohydramnios
596
Q

What is ortolani’s test?

A

Done to see if hip already dislocated. Hip is abducted and gentle pressure is applied to the proximal thigh from behind. Trying to relocate an already discloated femoral head back into the acetabulum. If dislocated, a palpable ‘clunk’ is noticed as the head slides back into place

597
Q

What is the barlow manuever?

A

Can the hip be dislocated? Gently adduct and depress femur; the vulnerable hip dislocates

598
Q

What are the possible complications of developmental dysplasia of the hip?

A

Avascular necrosis, early oestroarthritic changes

599
Q

Which hip is DDH more common in?

A

Left

600
Q

What is used to confirm the diagnosis of DDH if already clinically suspected?

A

Ultrasound. However, if the infant is > 4.5 months then x-ray is the first line investigation

601
Q

What is the management of DDH?

A

Most unstable hips will spontaneously stabilise by 3-6 weeks. <6 months: Pavlik harness (maintain hip in flexed position with some hip abduction). Old children may require surgery

602
Q

What is Brodie’s abscess? What disease is it seen in?

A

Bone sbcesses may become surrounded by thick, fibrous tissue and sclerotic bone (Brodie’s abscess)

603
Q

What is Perthes’ disease?

A

Degenerative condition affecting the hip joint of children, due to avascular necrosis of the femoral head, specifically the femoral epiphysis. Impaired blood supply to the femoral head causes bone infarction

604
Q

What population is Perthe’s most common in?

A

Boys, aged 4-8 years old (P for perthes, p for primary school)

604
Q

What are the pathological stages of Perthe’s disease?

A
  1. Avascular: hip appears sclerotic, minimal loss of epiphyseal height
  2. Fragmentation: fissures in epiphysis, followed by severe fragmentation and loss of height
  3. Remodelling: regeneration, new bone formation, head remodelling
  4. healed
605
Q

What is the presentation of Perthes’ disease?

A
  • classical ‘painless limp’ (though hip pain can develop later)
  • stiffness and reduced range of hip movement
  • xray changes
  • no hx of trauma
606
Q

What are the classical xray changes seen in Perthes’ disease?

A

Early: widening of joint space
Later: decreased femoral head size/flattening

607
Q

How is Perthes’ disease dx?

A

X-ray. If normal and symptoms persists, technetium 99 bone scan or magnetic resonance imaging

608
Q

What staging is used in Perthes’ disease?

A

Catterall

609
Q

What are the potential complications of Perthes’ disease?

A

The main complication is a soft and deformed femoral head, leading to early hip osteoarthritis. This leads to an artificial total hip replacement in around 5% of patients.

610
Q

What is the management of Perthe’s disease?

A

Variable. Initially is conservative, aiming to maintain a healthy position and joint alignment, reduce risk of damage or deformity to the femoral head (bed rest, crutches, analgesia). Later: physio, regular xrays, surgery in severe cases

611
Q

What is slipped upper femoral epiphysis?

A

Dislocation of the upper femoral epiphysis on the growth plate (displaced). Femoral neck displaces anteriorly and head remains in the acetabulum

612
Q

What is the typical patient slipped upper femoral epiphysis occurs in?

A

Boys, aged 10-15. More common obese children

613
Q

What is the typical presentation of slipper upper femoral epiphysis?

A
  • hip, groin, thigh or knee pain
  • restricted range of hip movement
  • painful limp
  • restricted movement in the hip
  • minor trauma, with disproportionate levels of pain
614
Q

What rotation/movement is affected in slipped upper femoral epiphysis?

A

Patient will prefer to keep the hip in external rotation. Will have limited movement of the hip, particularly restricted internal rotation. Limited flexion

615
Q

What two broad types of children are more likely to experience slipped upper femoral epiphysis?

A
  • obese hypogonadal (low circulating sex hormone; poor skeletal maturation)
  • tall, thin, often bous, past growth spurt (over abundance of growth hormones)
616
Q

What percentage of cases in slipped upper femoral epiphysis bilateral?

A

20%

617
Q

What investigations are diagnostic for slipped upper femoral epiphysis?

A

Xray (AP and lateral views are diagnostic)

618
Q

What is the treatment of SUFE? What is the aim?

A

Aim: prevent further slippage and minimise complications

  • surgery: internal fixation. Typically a single cannulated screw placed in the centre of the epiphysis
619
Q

What is genu valgum?

A

Knock knees. When standing with knees together, medial malleoli are not touching

620
Q

What is genu varum?

A

Bowed knees. When the patient stands with ankles together, knees bow

621
Q

What are osteochondroses?

A

Spectrum of conditions primarily affecting the epiphyses, may involve the cartilage and bone. Not always due to inflammation, may be due to trauma or over-usage

622
Q

What is Osgood-Schlatter’s disease?

A

Failure of the tibia tubercle apophysis due to repetitive traction stress from the extensor mechanism. Type of osteochondrosis

623
Q

What part of the epiphyses?

A

Wider section at each end of a long bone

624
Q

What part of the bone is the diaphysis?

A

Shaft portion of the long bone

625
Q

What part of the bone is the metaphysis?

A

Where the epiphysis meets the diaphysis. During growth, the metaphysis contains the epiphyseal plate

626
Q

What is the apophysis?

A

A normal developmental outgrowth of a bone which arises from a separate ossification centre, and fuses to the bone later in development. An apophysis usually does not form a direct articulation with another bone at a joint, but often forms an important insertion point for a tendon or ligament

627
Q

Which part of the knee attaches the patellar tendon to the tibia?

A

The tibial tuberosity

628
Q

What is the pathophysiology of Osgood-Schlatters disease?

A

Due to the tibial tuberosity being located at the epiphyseal plate. Stress from movements at the same time as growth in the epiphyseal plate results in inflammation on the tibial epiphyseal plate. Multiple avulsion fractures occur, the patella ligament pulls away small pieces of bone. Leads to growth of the tibial tuberosity, causing a visible lump below the knee. Initially tender due to inflammation, then becomes hard and non-tender

629
Q

What is the general presentation of Osgood-Schlatter’s?

A
  • Visible/hard tender lump at the tibial tuberosity
  • pain in the anterior aspect of knee
  • pain exacerbated by exercise
630
Q

What is the management of Osgood-Schlatters?

A

Conservative, reduce pain and inflammation.
- reduce physical activity
- ice
- NSAIDs

631
Q

What is a rare and serious complication of Osgood-Schlatters?

A

Full avulsion fracture, where the tibial tuberosity is separated from the tibia

632
Q

What is Adam’s disease? Why does it occur?

A

Medial epicondyle fragmentation or avulsion, and delayed closure of the growth plate. Due to repetitive injury to elbow when throwing/serving (eg, tennis)

633
Q

What is Kohler’s disease?

A

Infarction of the navicular bone presenting as medial midfoot pain and a limp in young children (M>F) especially with load-bearing sports

634
Q

What is discoid meniscus?

A

Rare anatomic variant affecting lateral meniscus of the knee. Means the meniscus is thicker than norma, often oval or disc shaped. Can be more prone to injury, such as tears

635
Q

What is the presentation of discoid meniscus?

A

Mostly asymptomatic. However, can present as insidious popping or snapping without a traumatic origin, which is associated with pain, giving way, effusion, quadriceps atrophy, limited range of motion, and clicking or locking

636
Q

How is discoid meniscus diagnosed?

A

Xrays are often normal. MRI can show changes. Diagnostic arthroscopy can confirm the diagnosis

637
Q

What is the McMurray test?

A

Tests for a meniscal tear

638
Q

What is usually seen on physical examination in patients with Discoid Meniscus?

A

Joint line tenderness and bulging, effusion, positive McMurrays

639
Q

What is transient synovitis?

A

Temporary irritaiton and inflammation in the synovial membrane of the hip joint that causes pain, limp, and sometimes refusal to weight bear

640
Q

What joint is affected in transient synovitis?

A

The hip

641
Q

What is the most common cause of paediatric hip pain?

A

Transient synovitis

642
Q

What age group is typically affected by transient synovitis?

A

3-8 years

643
Q

The absence of what feature differentiates transient synovitis from septic arthritis?

A

Children with transient synovitis typically do not have a fever

644
Q

What disease typically precedes transient synovitis?

A

Viral URTI

645
Q

What is the presentation of transient synovitis?

A

Limp, refusal to weight bear, groin or hip pain, no/low temperature, otherwise systemically well

646
Q

What movements may be limited in transient synovitis?

A

Limitations in abduction and internal rotation of the hip

647
Q

What is the log roll test?

A

The log roll test assesses for pathology within the hip joint, and can be used to isolate the patient’s pathology to the hip as opposed to outside of the hip joint. Abnormal if pain, clicking or increased range of motion.

648
Q

What is the most sensitive test for transient synovitis?

A

Log roll

649
Q

What is the diagnosis process for transient synovitis?

A

Diagnosis of exclusion to rule out serious conditions. Clinicial examination + x-ray of hip + blood tests

650
Q

What is the management for transient synovitis?

A

Conservative. Bedrest, no weight bearing, heat, NSAIDs

651
Q

What is juvenile idiopathic arthritis?

A

Autoimmune inflamation occurs in the joints

652
Q

What is the diagnosis process/requirements for JIA?

A

A diagnosis of exclusion in children <16yrs old with a history of at least 6wks of persistent arthritis

653
Q

What are the key features of inflammatory arthritis?

A

Joint pain, swelling, stiffness

654
Q

What are the 5 key subtypes of JIA?

A

Systemic JIA, polyarticular JIA, olgioarticular JIA, enthesitis related arthritis, juvenile psoriatic arthritis

655
Q

What important differentials should be excluded before diagnosing JIA?

A

Sepsis, malignancy, trauma

656
Q

What is the presentation of systemic JIA (Still’s disease)?

A

Subtle salmon pink rash, high swinging fevers, lymphadenopathy, weight loss, joint inflammation and pain, splenomegaly, muscle pain, pleuritis

657
Q

What are the serology findings for Still’s disease?

A

Negative antinuclear antibodies and rheumatoid factors

658
Q

What are the key differentials for children with fevers lasting more than 5 days?

A

Kawasaki disease, Still’s disease, rheumatic fever, leukaemia

659
Q

What is the key complication of Still’s disease?

A

Macophage activation syndrome (severe activation of the immune system, with massive inflammatory response).

660
Q

How does macrophage activation syndrome present? What is a key blood finding?

A

It presents with an acutely unwell child with disseminated intravascular coagulation (DIC), anaemia, thrombocytopenia, bleeding and a non-blanching rash. It is life threatening. A key investigation finding is a low ESR.

661
Q

What is the presentation of polyarticular JIA?

A

Idiopathic inflammatory arthritis in 5 joints or more. Tends to be symmetrical, and affect small joints of hands and feet, as well as large joints such as hips and knees. Minimal systemic symptoms

662
Q

What is the serology findings of polyarticular JIA?

A

Seronegative for rheumatois arthritis?

663
Q

How many joints have to be affected for a dx of polyarticular JIA?

A

5 or more

664
Q

What is the presentation of olgioarticular JIA?

A

Involves 4 joints or less, typically only affecting a single joint (monoarthritis). Typically affects larger joints

665
Q

What population does oligoarticular JIA typically affect?

A

Girls under 6 years old

666
Q

What is a classic associated feature of olgioarticular JIA?

A

Anterior uveitis

667
Q

What is the associated serology with oligoarticular JIA?

A

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

668
Q

What population is most affected by enthesitis related arthritis?

A

Boys over 6

669
Q

What adult group of conditions is enthesitis-related arthritis the paediatric version of?

A

Seronegative spondyloarthropathy

670
Q

How was enthesitis of a joint be diagnosed?

A

MRI: can’t differentiate between stress or autoimmune aetiology

671
Q

What gene is associated with enthesitis related arthritis?

A

HLA-B27

672
Q

What conditions are children with enthesitis related arthritis more at risk of? (and should be screened for?)

A

Psoriasis, IBD, anterior uveitis

673
Q

What is seen on physical examination of children with enthesitis related arthritis?

A

Tender to localised palpation of the entheses

674
Q

What is the presentation of juvenile psoriatic arthritis?

A

Varying joint involvement; symmetrical polyarthritis of small joints, or asymmetrical of large joints.
Also, plaques of psoriasis on skin, nail pittingm onchyolysis, dactylitis, enthesitis

675
Q

What is the general treatment of JIA?

A

NSAIDs, Steroids, DMARDS (such as methotrexate, sulfasalazine), biological therapy (Eg, TNF inhibitors such as infliximab and adalimumab)

676
Q

What is the most common form of JIA?

A

Oligoarticular

677
Q

What is the general presentation of JIA?

A
  • gradual onset
  • inflammatory symptoms worse after rest of inactivity
  • stiffness
  • associated rash, fever, weightloss
  • FHx of arthritis, psoriasis, colitis
678
Q

What is a common presentation of enthesitis related arthritis?

A

Plantar fasciitis

679
Q

What is +ve ANA a predictor of in oligoarticular JIA?

A

Eye issues

680
Q

What are general back pain red flag symptoms?

A

several weeks of symptoms, night pain, worsening symptoms, abnormal neurology, night sweats

681
Q

What would be expected for ESR/CRP levels in JIA?

A

Normal or mildly elevated

682
Q

What is discitis and how does it present?

A

Inflammation of the disc space. Symptoms: fever, irritability, unwilling to walk, back pain, abdo pain

683
Q

What is diastematomyelia?

A

Spinal cord is split by a central cartilaginous/bony prominence. Can surgically resect

684
Q

What is sacral agenesis, and what population are at risk?

A

When the sacrum doesn’t form properly. RF: diabetic mother

685
Q

What is kyphosis?

A

Increased curvature of the spine in the sagittal plane, visible in the spine

686
Q

What is the difference between postural and congenital kyphosis? Treatments?

A

Postural: due to poor posture, flexible, usually painless. Corrected via physio

Congenital: rigid, painful, can be associated with congenital spinal abnormality, treatment via brace?

687
Q

What is Scheuermann’s disease?

A

> 45 degrees kyphosis, with >5 degrees anterior wedging at 3 sequential vertebrae (more curved)

688
Q

What is the presentation of Scheuermann’s kyphosis?

A

A rounded, hunched back that can’t be straightened. Also back pain between shoulder blades, stiffness

689
Q

What changes are seen on xray in scheuermann’s disease?

A

Epiphyseal plate disturbance and anterior wedging

690
Q

What is the scoliosis?

A

Lateral curvature (more than 10 degrees) rotation of the spine without an identifiable cause

691
Q

What are risk factors of scoliosis?

A

FHx (daughters of affected mothers particularly), Marfans, neurofibromatosis

692
Q

What is lordosis? Presentation?

A

Pathological and excessive extension of the secondary spinal curves. Presents with anteriorly rotated hips and excess extension of the lumbar spine

693
Q

What part of the spine is scoliosis most common in?

A

Thoracolumbar spine

694
Q

What complications can be seen in thoracic scoliosis?

A

Dyspnoea and restrictive lung function pattterns

695
Q

What complications can be seen in lumbar scoliosis?

A

Abdominal pain and ‘tightening’ or abdominal viscera

696
Q

What is osteogenesis imperfecta?

A

Inherited condition affecting collagen maturation and organisation causing brittle bones

697
Q

What is the associated symptoms of osteogenesis imperfecta?

A

Hypermobility, blue sclera, triangular face, short stature, deafness from early childhood, dental problems, bone deformities, joint and bone pain

698
Q

What type of collage is affected in osteogenesis imperfecta?

A

Type 1 collagen

699
Q

What is the inheritance of osteogenesis imperfecta?

A

autosomal dominant

700
Q

What are the types of O.I and prognosis?

A

Type I: mild
Type II: lethal
Type III: severe deforming
Type IV: intermediate

701
Q

What happens after a fracture in O.I?

A

Initial bone healing is normal, but there is no subsequent remodelling, and the bone heals with a deformity

702
Q

What investigations are done for osteogenesis imperfecta?

A
  • prenatal US scan: can detect severe forms in foetus
  • molecular genetic testing
  • biochemistry: adjusted calcium, phosphate, PTH and ALP results are normal
  • skin biopsy: high collagen in fibroblasts
  • bone biopsy: histology
703
Q

What is the treatment for O.I?

A
  • bisphosphonates to increase bone density
  • vitamin D supplementation to prevent deficiency
  • supportive therapy
  • surgery: intramedullary rods
704
Q

What is rickets?

A

Metabolic bone disease characterised by inadequate mineralisation of bone and epiphyseal cartilage in the growing skeleton of children

705
Q

What is the causes of rickets?

A

Deficiency in vitamin D or calcium.

706
Q

What is the genetic cause of rickets?

A

Hereditary hypophosphataemic rickets

707
Q

What are the causes of calcium deficiency?

A

Vitamin D deficiency (source: sunlight), nutritional (diet, malabsorption of calcium, CKS, GI bypass surgery)

708
Q

What is the presentation of rickets?

A

Metaphyseal swellings (wide wrists), bowing deformities, slowing of linear growth, kyphoscoliosis, Harrison’s sulcus motor delay, hypotonia, fractures, respiratory distress

709
Q

What biochemical disturbances are seen in rickets?

A

Low phosphate (fasting), serum calcium variable, raised serum alkaline phosphate, low vitamin D

710
Q

What is harrison’s sulcus?

A

indentation on the chest roughly along the 6th rib

711
Q

What is the investigation for vitamin D? what result indicates deficiency?

A

Serum 25-hydroxyvitamin D is the laboratory investigation for vitamin D. A result of less than 25 nmol/L establishes a diagnosis vitamin D deficiency

712
Q

What types of fracture are common in children and why?

A

Greenstick (one side of the bone breaks, other side intact). Children have more cancellous bone, which is the spongy, highly vascular bone in the centre of long bones; they are flexible but less strong

713
Q

What Salter Harris classification used for?

A

Fractures at the growth plate

714
Q

What is the pain management ladder in children?

A
  1. Paracetamol or ibuprogen
  2. Morphine
715
Q

What age group are most affected by osteosarcomas?

A

10-20 years

716
Q

What bone is most commonly affected by osteosarcoma?

A

Femur

717
Q

What is the investigations and findings for osteosarcoma?

A

Xray. Shows a poorly defined lesion in the bone, destruction of normal bone and a fluffy appearance. Causes ‘sun-burst’ appearanc, and Codman triangle. Can be associated soft tissue mass

718
Q

What blood test may come back elevated in osteosarcoma?

A

ALP

719
Q

What is the Codman triangle?

A

Periosteal elevation seen on xray due to osteosarcoma

720
Q

What cancer shows ‘onion skin’ on xray?

A

Ewing’s sarcoma

721
Q

What is talipes?

A

Fixed abnormal ankle position that presents at birth: club foot

722
Q

What is the ponseti method, and what condition does it treat?

A

The manipulation of a foot towards normal position via repetitive casts in talipes. It is a way of treating talipes without surgery

723
Q

What is the definition of anaemia at: neonate, 1-12 months, and 1-12 years?

A

Neonate: <140g/L
1-12 months: <100g/L
1-12 years: < 110g/L

724
Q

What are the possible aetiology for microcytic anaemia?

A

TAILS. Thalassaemia, Anaemia of chronic disease, iron deficiency, lead poisoning, sideroblastic anaemia

725
Q

What are the possible causes of macrocytic anaemia?

A

Bone marrow failure syndromes, myelodysplastic syndrome, megaloblastic anaemia, drugs

726
Q

What are the possible causes of normocytic anaemia?

A

Acute blood loss, anaemia of chronic disease, aplastic anaemia, haemolytic anaemia, hypothyroidism

727
Q

What is the most common childhood anaemia?

A

Iron deficiency

728
Q

What are the four main categories of causes of iron deficiency?

A

Inadequate intake (common due to iron being used in growth), increased demand, malabsorption, blood loss

729
Q

What is the iron content like in breast milk?

A

Low, but 50% is absorbed

730
Q

What are birth risks for iron deficiency anaemia?

A

Pre-term, low birth weight, multiple births

731
Q

What is the presentation of iron deficiency anaemia?

A

Most children asymptomatic until bad. Tired, young children feed slower, pallor, PICA (eating inappropriate foods), hair loss, dizziness, palpitations, headaches

732
Q

Where is most of the body’s iron absorbed?

A

Duodenum and jejunum.

733
Q

How do medications such as PPIs that reduce stomach acid, affect iron absorption?

A

Iron absorption requires acid from the stomach to keep it in its soluble ferrous (Fe2+) form. When there is less acid in the stomach, it turns to the insoluble form, therefore can affect absorption

734
Q

How does iron travel around the body?

A

As ferric ions bound to transferrin (carrier protein)

735
Q

What is total iron binding capacity?

A

Means there is space on the transferrin molecules for the iron to bind

736
Q

What form is iron stored in cells?

A

Ferritin

737
Q

What pathological process can cause high blood ferritin levels?

A

Inflammation (released from cells)

738
Q

What is physiologic anaemia of infancy?

A

When there is a normal dip in haemoglobin around 6-9 weeks in healthy term babies.High oxygen delivery to the tissues caused by the high haemoglobin levels at birth cause negative feedback. Production of erythropoietin by the kidneys is suppressed and subsequently there is reduced production of haemoglobin by the bone marrow

739
Q

What causes haemolytic disease of the newborn Rh disease?

A

Due to incompatibility between the rhesus antigens on the surface of red blood cells of the mother and fetus. When the mother is rhesus D negative, has a baby who is rhesus positive, mother forms anti-D antibodies (sensitisation). In second pregnancy, mother’s anti-D antibodies cross the placenta, and attack baby’s red blood cells (causes haemolsis)

740
Q

What is a direct Coombs test used for?

A

immune haemolytic anaemia, such as haemolytic disease of the newborn

741
Q

What is the treatment of helminth infection (roundworms, hookworms, whipworms)?

A

Single dose of albendazole or mebendazole

742
Q

What is megaloblastic anaemia?

A

Megaloblastic anaemia is the result of impaired DNA synthesis preventing the cell from dividing normally. Rather than dividing it keeps growing into a large, abnormal cell. This is caused by a vitamin deficiency.

743
Q

What signs can indicate anaemia?

A

Koilonychia, angular chelitis, atrophic glossitis, brittle hair and nails, jaundice, bone deformities

744
Q

When might chronic disease cause megaloblastic anaemia?

A

May cause B12 deficiency, due to defective absorption (ileal resection, IBD, coeliac disease)

745
Q

How can reticulocytes (immature RBC) indicate the cause of anaemia?

A

A high level of reticulocytes in the blood indicates active production of red blood cells to replace lost cells. This usually indicates the anaemia is due to haemolysis or blood loss.

746
Q

What are the causes of folate deficiency?

A

Malnutrition, malabsorption, increased requirements, drugs, disorders of folate metabolism

747
Q

What are membranopathies?

A

Autosomal dominant conditions which result in an abnormally shaped red cells

748
Q

What is hereditary spherocytosis?

A

Normal bio-concave disc shaped is replaced by a sphere-shaped RBC due to defect with the cytoskeleton. RBC survival is reduced as it is destroyed by the spleen

749
Q

What is the most common hereditary haemolytic anaemia?

A

Hereditary spherocytosis

750
Q

What is the inheritance of hereditary spherocytosis?

A

Autosomal dominant

751
Q

What is the presentation of hereditary spherocytosis?

A

Failure to thrive, jaundice, splenomgealy, aplastic crisis precipitated by parvovirus infection

752
Q

What occurs in aplastic crisis?

A

Increased anaemia, haemolysis and jaundice, without the normal response from the bone marrow of creating new RBC. Thus there is no reticulocyte response. Often triggered by parvovirus infection

753
Q

How is hereditary spherocytosis diagnosed?

A

FHx, clinical fetures, spherocytes on blood film, raised mean corpuscular haemoglobin concentration

754
Q

What is the treatment of hereditary spherocytosis?

A

Folate supplementation, splenectomy, may need to remove gallbladder

755
Q

What is hereditary elliptocytosis (and difference between spherocytosis)?

A

Blood cells are ellipses shaped rather than spheres. Autosomal dominant

756
Q

What is the commonest red blood cell enzyme defect?

A

G6PD deficiency

757
Q

What pattern of inheritance occurs in G6PD deficiency?

A

X linked recessive

758
Q

What can trigger a G6PD deficiency crisis?

A

Infections, medications (such as anti malarials) or fava beans (broad beans)

759
Q

What is the pathophysiology of G6PD deficiency?

A

G6PD enzyme is responsible for protecting cells from damage by reactive oxygen species. These are produced during normal cell metabolism and in higher quantities during stress on the cell. Particularly important in red blood cells, when G6PD lacks, leads to haemolysis in RBC. Increased stress can lead to acute haemolytic anaemia

760
Q

What is the clinical presentation of G6PD?

A

Anaemia, intermittent jaundice, gall stones, splenomegaly

761
Q

What are Heinz bodies, and when are they seen?

A

Seen in G6PD, on a blood film. They are blobs of denatured haemoglobin (inclusions) within RBC

762
Q

How is G6PD deficiency dx?

A

G6PD enzyme assay

763
Q

What are medications that can trigger haemolysis in G6PD deficiency?

A

Primaquine, ciprofloxacin, nitrofurantoin, trimethoprim, sulfonylurea, sulfasalazine

764
Q

What can be see on a blood film in G6PD deficiency?

A

Heinze bodies, bite, and blister cells

765
Q

When should G6PD enzyme levels be checked?

A

3 months after (avoid false negative)

766
Q

What is thalassaemia?

A

Genetic defect in the protein chains that make up haemoglobin (either in the alpha or beta chains)

767
Q

What is the inheritance pattern of thalassaemia?

A

Autosomal recessive

768
Q

What is the pathophysiology of thalassaemia?

A

RBC are more fragile and break down more easily. This leads to varying degrees of anaemia. The bone marrow expands to produce extra red blood cells to compensate for the chronic anaemia. This causes a susceptibility to fractures and prominent features, such as a pronounced forehead and malar eminences (cheek bones)

769
Q

What are the potential signs and symptoms of thalassaemia?

A

Microcytic anaemia (low MCV), fatigue, pallor, jaundice, gallstones, splenomegaly, poor growth and development, pronounced forehead and malar eminences

770
Q

How is thalassaemia diagnosed?

A

FBC showing microcytic anaemia, haemoglobin electrophoresis to diagnose globin abnormalities, DNA testing

771
Q

Why does iron overload sometimes happen in thalassaemia?

A

Occurs as a result of the faulty creation of RBCs, recurrent transfusions, increased absorption of iron in the gut in response to anaemia

772
Q

Why might iron chelation be performed in patients with thalassaemia?

A

If they are in iron overload

773
Q

What are the symptoms of iron overload in thalassaemia?

A

Fatigue, liver cirrhosis, infertility, impotence, heart failure, arthritis, diabetes, osteoporosis and joint pain

774
Q

Where is the gene coding for alpha thalassaemia?

A

Chromosome 16

775
Q

What is the management of alpha thalassaemia?

A

Monitoring FBC, monitoring compx, blood transfusions, splenectomy, bone marrow transplant (can be curative)

776
Q

Where is the gene coding for beta thalassaemia?

A

Chromosome 11

777
Q

What are the possible divisions of beta thalassaemia? Why?

A

Major, intermedia, minor. Because the gene defect can consist of abnormal copies that retain some function, or deletion where there is no function at all.

778
Q

What is the difference between thalassaemia minor, intermedia, and major?

A

Minor: carriers of abnormally functioning beta globin gene. One normal, one abnormal.

Intermedia: two abnormal copies of the beta globin gene. Can be either two defective genes or one defective gene and one deletion.

Major: homozygous for deletion genes

779
Q

What causes the anaemia in thalassaemia?

A

Combination of ineffective erythropoiesis and haemolysis in the spleen

780
Q

What can be curative in thalassaemia? What is done as maintenance?

A

Bone marrow tranplant. Monthly blood transufions done

781
Q

What drug is used in iron chelation? How does it work?

A

Desferrioxamine; binds to iron in the blood, which is then passed out in the urine

782
Q

What is Hb Barts hydrops fetalis?

A

Deletion of all four functional alpha globin genes of haemoglobin; most severe and fatal form of alpha thalassaemia

783
Q

What is the difference between sickle cell anaemia and thalassaemia?

A

Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell anemia (a hemoglobinopathy) is a qualitative problem of synthesis of an incorrectly functioning globin

784
Q

What is the inheritance of sickle cell anaemia?

A

Autosomal recessive

785
Q

What is the pathophysiology of sickle cell anaemia?

A

Abnormal variant called haemoglobin S (HbS)

786
Q

What is the inheritance of sickle cell anaemia/trait? What chromosome?

A

Autosomal recessive, chromosome 11. One abnormal copy of the gene results in sickle-cell trait. Patients with sickle-cell trait are usually asymptomatic. They are carriers of the condition. Two abnormal copies result in sickle-cell disease

787
Q

How does haemoglobin production change between fetal and adult (birth)?

A

During fetal development, at around 32-36 weeks gestation, fetal haemoglobin (HbF) production decreases, and adult haemoglobin (HbA) increases. There is a gradual transition from HbF to HbA. At birth, around half the haemoglobin is HbF, and half is HbA. By six months of age, very little HbF is produced, and red blood cells contain almost entirely HbA.

788
Q

What is the link between malaria and SCA?

A

Sickle cell trait reduces the severity of malaria, without the burden of the disease. Selective advantage

789
Q

What is the screening offered for SCA?

A

Newborn blood spot. Pregnant women of high risk also offered screening

790
Q

What are the potential complications of SCA?

A

Anaemia, increased risk of infection, CKD, sickle cell crises, acute chest syndrome, stroke, avascular necrosis (large joints such as hip), pulmonary HTN, gallstones, priapism, reduced growth, leg ulcers

791
Q

What is sickle cell crisis?

A

Spectrum of acute exacerbations caused by sickle cell disease, ranging from mild to life threatening.

792
Q

What is the treatment for sickle cell crisis?

A

Spontaneously, or dyue to dehydration, infection, stress, cold weather, deoxygenation (eg, high altitude)

793
Q

What is the treatment for sickle cell crisis?

A

Mostly supportive; hydration, analgesia, treat any infection

794
Q

What is vaso-occlusive crisis?

A

Known as painful crisis, and is the most common type of sickle cell crisis. Caused by sickle shaped red blood cells clogging capillaries, leading to distal ischaemia

795
Q

How does a vaso-occlusive crisis typically present?

A

Pain and swelling in the hands or feet, but can affect other areas. Can be associated with fever, and priapism in men

796
Q

What is priapism?

A

Painful and persistent erection due to blood being trapped in the penis. Urological emergency, treated by aspirating blood

797
Q

What is splenic sequestration crisis?

A

Splenic sequestration crisis is caused by red blood cells blocking blood flow within the spleen. It causes an acutely enlarged and painful spleen. Blood pooling in the spleen can lead to severe anaemia and hypovolaemic shock.

798
Q

What is the treatment of splenic sequestration crisis?

A

Mostly supportive, with blood transfusion and fluid resuscitation to treat anaemia and shock. Splenectomy can prevent it, and is used in recurrent cases

799
Q

What are the possible complications of splenic sequestration crisis?

A

Splenic infarction leading to hyposplenism, susceptibility to infections, particularly from encapsulated bacteria such as streptococcus pneumoniae and H.influenzae

800
Q

Why are post splenectomy patients more at risk of infection from encapsulated bacteria?

A

The spleen is crucial to the host response to infection by clearing polysaccharide-encapsulated bacteria. This response involves the clearing of pathogens from the bloodstream as well as the rapid production of specific antigens

801
Q

What is aplastic crisis? What is the typical cause?

A

Aplastic crisis describes a temporary absence of the creation of new red blood cells. It is usually triggered by infection with parvovirus B19.

802
Q

What is acute chest syndrome in SCA?

A

Occurs when the vessels supplying the lungs become clogged with RBCs

803
Q

What can trigger acute chest syndrome in SCA?

A

Vaso-occlusive crisis, fat embolism, or infection

804
Q

What is the presentation of acute chest syndrome in SCA?

A

Fever, shortness of breath, chest pain, cough, hypoxia

805
Q

What is seen on a chest xray in acute chest synrome?

A

pulmonary infiltrates

806
Q

What is the management of acute chest syndrome?

A

Analgesia, hydration, antibiotics/antivirals for infection, blood transfusion, incentive spirometry (encourages effective and deep breathing), respiratory support

807
Q

What is the management of SCA?

A

Avoid crises triggers, up to date vaccinations, antibiotic prophylaxis, hydroxycarbamide, crizanlizumab, blood transfusions, bone marrow transplant

808
Q

What antibiotic can be used as prophylaxis against infections in SCA?

A

penicillin

809
Q

How does hydroxycarbamide work in SCA?

A

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

810
Q

How does crizanlizumab work in SCA?

A

Monoclonal antibody that targets P-selection, which is an adhesion molecule on endothelial cells. Stops RBC sticking to blood vessel walls, reduces vaso-occlusive crises

811
Q

What are the two specialist drugs used in SCA?

A

Hydroxycarbamide, crizanlizumab

812
Q

What is the definitive diagnosis of SCA?

A

haemoglobin electrophoresis

813
Q

How is thalassaemia diagnosed prenatally?

A

CVS

814
Q

What are the main causes of anaemia of prematurity?

A

Inadequate EPO production, reduced RBC lifespan, frequent blood sampling whilst in hospital, iron and folic acid deficiency

815
Q

What is rhesus isoimmunization?

A

Most severe complication of haemolytic disease of the newborn. Causes the red blood cells to break down, and fetus gets very oedematous due to liver focusing on RBC production, so albumin falls

816
Q

When does rhesus disease occur?

A

Rh-ve mother, Rh+ve baby

817
Q

What antibodies does the mother produce in rhesus negative pregnancy with rhesus positive baby?

A

anti-D IgG antibodies

818
Q

How is rhesus disease prevented?

A
  • test for D antibodies in Rh-ve mothers at booking
  • can give anti-D to non-sensitised Rh-ve mothers at 28 and 34 weeks
  • anti-D prophylaxis
819
Q

What is the prophylaxis for anti-D disease?

A

anti-d immunoglobulin

820
Q

When should anti-d immunoglobulin be given in pregnancy?

A

either single dose at 28 weeks, or double dose at 28 and 34

821
Q

What is the Kleihauer test?

A

Blood test used during pregnancy to screen maternal blood for the presence of red blood cells. Assess the size of fetomaternal haemorrhage, so can see how much fetal blood has entered the maternal circulation. Helps to work out how much anti-D immunoglobulin to give

822
Q

When should anti-D immunoglobulin be given ASAP (/within 72 hours)

A
  • delivery of Rh+ve infant (live or still born)
  • any termination of pregnancy
  • miscarriage if > 12 weeks
  • ectopic pregnancy
  • antepartum haemorrhage
  • amniocentesis, chorionic villus sampling, fetal blood sampling

Given at these times as sensitisation could occur

823
Q

What is the presentation of rhesus disease in the baby (postnatally)?

A

hydrops foetalis, early jaundice, kernicterus, hepatosplenomegaly, coagulopathy, thrombocytopenia, leucopenia

824
Q

What is fanconi anaemia?

A

inherited blood disorder associated with a progressive deficiency of all bone marrow production of blood cells + platelets (pancytopenia) –> leads to aplastic anaemia

825
Q

What is pancytopena?

A

Deficiency of all three cellular components of the blood

826
Q

What is red cell aplasia?

A

Anaemia secondary to the failure of erythropoiesis

827
Q

What is aplastic anaemia?

A

Failure of all three blood lines (RBC, WBC, platelets); pancytopenia

828
Q

What are the features of aplastic anaemia?

A
  • normochromic, normocytic anaemia
  • leukopenia
  • thrombocytopenia
  • can be presenting feature of ALL or AML
829
Q

What are the possible causes of aplastic anaemia?

A
  • idiopathic
  • cognenital (eg, fanconi)
  • drugs: cytotoxics, sulphonamides, phenytoin
  • toxins
  • infections: parvovirus, hepatitis
  • radiation
830
Q

What drugs can cause aplastic anaemia?

A

cytotoxics, sulphonamides, phenytoin

831
Q

What infection can trigger aplastic anaemia?

A

Parvovirus B19

832
Q

What are the signs of red cell aplasia?

A
  • low reticulocytes despite low Hb
  • normal bilirubin
  • negative direct antiglobulin test (Coombs test)
  • absent red cell precursors on bone marrow examination
833
Q

What is the clinical presentation of aplastic anaemia?

A
  • anaemia due to reduced RBC
  • infections due to reduced WBC
  • bruising (minimal trauma) and bleeding due to thrombocytopneia
  • symptoms and signs of anaemia
834
Q

What is the treatment for aplastic anaemia?

A
  • support the blood count
  • bone marrow transplant
  • immunosuppression
835
Q

What is the most common cause of aplastic anaemia?

A

fanconi anaemia

836
Q

What is the presentation of fanconi anaemia?

A
  • typically presents aged 4-10 years
  • bruising and purpura or insidious onset anaemia
  • congenital abnormalities
837
Q

What is the inheritance of fanconi anaemia?

A

autosomal recessive

838
Q

Why has fanconi anaemia got a poor prognosis?

A

High risk of death from bone marrow failure, transformation to acute leukaemia, or general pancytopenia complications

839
Q

What is Schwachman-Diamond syndrome?

A

condition than can cause bone marrow failure and signs of pancreatic exocrine failure and skeletal abnormalities

840
Q

What are the useful features for evaluating bleeding disorders?

A

Age of onset, FHx, bleeding hx, pattern of bleeding

841
Q

When does haemophilia tend to present?

A

When a toddler is starting to walk

842
Q

What haemotological disease causes bleeding into muscles or joints?

A

haemophilia

843
Q

What haematological disease causes mucous membrane bleeding and skin haemorrhage

A

Platelet disorders or von Willebran disease

844
Q

What is the inheritance of haemophilia?

A

X-linked recessive

845
Q

What is the commonest haemophilia?

A

Haemophilia A

846
Q

What is haemophilia A a deficiency of?

A

Factor VIII

847
Q

What is haemophilia B a deficiency of?

A

Factor IX

848
Q

What is the pathology of haemophilia?

A

Deficiency of factors that activate factor X in the clotting cascade. Leads to impaired clotting

849
Q

What are the clinical features of haemophilia?

A

Haemoarthroses (bleeding into joints, can lead to crippling arthritis), intracranial bleeds (following minor head trama), prolonged bleeding after surgery or trauma

850
Q

When does haemophilia typically present?

A

In the first year of life when children start to crawl/walk and fall over

851
Q

How is haemophilia A diagnosed?

A

Increased APTT and decreased factor VIII assay

852
Q

What is the difference between PT and aPTT clotting factors?

A

PT is a test of the extrinsic coagulation pathway (also called the tissue factor pathway), which includes factors VII, X, V, and II. APTT tests the intrinsic pathway (also called the amplification pathway or contact system), which includes factors XII, XI, IX, VIII, X, V, and II

853
Q

What is the treatment of haemophilia?

A

Avoid NSAIDs and IM injections (including vitamin K at birth), give prophylaxsis (IV recombinant factor VIII or IX).

854
Q

What drug raises factor VIII levels?

A

Desmopressin. Can shorten APTT and bleeding time

855
Q

What is acquired haemophilia: why does it develop and what is the presentation?

A

a bleeding diathesis causing big mucosal bleeds in males and females caused by suddenly appearing autoantibodies that interfere with factor VIII

856
Q

How does liver disease cause bleeding disease?

A

Due to decreased synthesis of clotting factors, decreased absorption of vitamin K, abnormalities of platelet function

857
Q

What are the vitamin K dependent factors?

A

10,9,7,2 (1972)

858
Q

What are the complications of treatment of haemophilia?

A
  • antibodies can form to factor VIII or IX; reduces or inhibits effect of treatment
  • transfusion transmitted infections
  • issues with vascular access
859
Q

What are the signs of haemophilia on blood tests?

A

Prolonged APTT. Normal bleeding time, thrombin time, prothrombin time

860
Q

What is the inheritance of von Willebrand disease?

A

Autosomal dominant.

861
Q

What are the roles of vWF? How does this show in von willebrand disease?

A

Roles: facilitates platelet adhesion to damaged endothelium, acts as a carrier protein for factor VIII (protects from inactivation and clearance). Thus, lack of vWF leads to bleeding tendency due to VIII deficiency AND failure of platelet adhesion

862
Q

What is the commonest and rarest forms of vWF disease?

A

Type 1: most common. Mildest
Type 3: rarest. most severe (recessive).

863
Q

What is common in haemophilia that is uncommon in von willebrand disease?

A

In von willebrand disease, spontaneous soft tissue bleeding such as large haematoma and hemarthroses are uncommon

864
Q

What is the presentation of von willebrand disease?

A

Bruising, excessive prolonged bleeding after surgery, mucosal bleeding such as epistaxis and menorrhagia

865
Q

What is seen in investigation for von willebrand disease?

A

Prolonged bleeding time, APTT prolonged, reduced factor VIII

866
Q

How is type 1 von willebrand disease typically treated?

A

Desmopressin: causes secretion of factor VIII and vWF into the plasma. TXA for mild bleeding

867
Q

Why should desmopressin be used cautiously in the treatment of von willebrand disease in <12 month olds?

A

can cause hyponatraemia due to water retention leading to seizures

868
Q

What are they key acquired disorders of coagulation affecting children?

A

Liver disease, ITP, DIC, haemorrhagic disease of the newborn due to vitamin K deficiency

869
Q

What are general symptoms of clotting disorders? (rather than platelet disorders)

A

haemarthrosis, muscle haematoma, prolonged bleeding after surgery

870
Q

What are the general symptoms of platelet disorders (rather than clotthig disorders)?

A

Petechiae, bruising, contact bleeding, menorrhagia

871
Q

What is thrombocytopenia?

A

Low platelet count

872
Q

What are the risks of mild, moderate, and severe thrombocytopenia?

A

Mild: low risk of bleeding
Moderate: risk of excessive bleeding
Severe: risk of spontaneous bleeding

873
Q

What is ITP?

A

Immune mediated reduction in platelet count due to the production of IgG antibodies that destroy the platelets

874
Q

What type of hypersensitivity reaction is ITP?

A

2

875
Q

What are petechiae? What is the difference between these and ecchymoses?

A

Petechiae are pin-prick spots (around 1mm) of bleeding under the skin. Purpura are larger (3 – 10mm) spots of bleeding under the skin. When a large area of blood is collected (more than 10 mm), this is called ecchymoses. These are all non-blanching lesions.

876
Q

What is the presentation of ITP?

A

Bleeding (gums, epistaxis, menorrhagia), bruising, petechial or purpuric rash

877
Q

Who does ITP generally affect?

A

Children under 10, with a history of a recent viral illness.

878
Q

What is the investigations for ITP and what do they show?

A
  • FBC: isolated thrombocytopenia
  • blood film
  • bone marrow examinations only required if atypical features
879
Q

What is the treatment of ITP?

A
  • generally none: will resolve over time
  • if actively bleeding or severe: Prednisolone, IV immunoglobulins, blood transfusions and platelet transufsions (temporarily work until theyre destroyed by antibodies)
  • avoid contact sports
880
Q

What is chronic ITP?

A

Low platelet count remains after 6 months (rare)

881
Q

When should a child with chicken pox return to school?

A

When all spots have crusted over

882
Q

When should a child with diarrhoea and vomiting return to school?

A

48 hours from the last episode

883
Q

When should a child with impetigo return to school?

A

When lesions are crusted and healed or 48 hours after commencing antibiotics

884
Q

When should a child with measles return to school?

A

4 days from the onset of the rash

885
Q

When should a child with mumps return to school?

A

5 days from the onset of swelling

886
Q

When should a child with Scarlet fever return to school?

A

24 hours after commencing antibiotics

887
Q

When should a child with Whooping Cough return to school?

A

48 hours after antibiotics commenced

888
Q

What is Reye’s syndrome?

A

A condition that results from aspirin treatment of viral infections in children. Leads to compromised liver function.

889
Q

What is the presentation of Reye’s syndrome?

A

Abnormal liver function tests, vomiting, encephalopathy (slurred speech, lethargy, coma, potentially death)

890
Q

What is kawasaki disease?

A

Medium sized vessel vasculitis

891
Q

What is the presentation of Kawasaki disease?

A

Fever lasting longer than 5 days. At least 4 of the following: conjunctivitis, bright red + cracked lips, strawberry tongue, cervical lymphadenopathy, red palms of hands and soles of feet, which then peel

892
Q

What type of rash is seen in Kawasaki disease?

A

Desquamating rash

893
Q

What population is most commonly affected by Kawasaki disease?

A

Under 5 years old, boys, asian children

894
Q

What is a key complication of Kawasaki disease?

A

Coronary artery aneurysm

895
Q

What is the key differential in children with a fever lasting more tha 5 days?

A

Kawasaki disease

896
Q

What investigations should be done in Kawasaki disease

A
  • FBC: anaemia, leukocytosis, thrombocytosis
  • LFTs: hypoalbuminaemia, elevated liver enzymes
  • raised inflammatory markers
  • ECHO: coronary artery pathology
897
Q

What is the key investigation in diagnosis of Kawasaki disease?

A

Trick question! clinical diagnosis, no one single diagnostic test

898
Q

What is the management of Kawasaki disease?

A
  • high dose aspirin (reduce risk of thrombosis)
  • IV immunoglobulins (reduce risk of coronary artery aneursms)
899
Q

What follow up should be done after Kawasaki disease for monitoring?

A

Echocardiograms

900
Q

What are associated features with kawasaki disease?

A
  • MSK: arthralgia and arthritis
  • CNS: aseptic meningitis, sensorineural hearing loss
  • GI: diarrhoea and vomiting
  • cardiac: congestive heart failure, myocarditis, pericardial effusion, arrhythmias
  • coronary aneurysms
901
Q

When are aneurysms seen following kawasaki disease?

A

Around 7-21 days post onset of fever

902
Q

What are the 6 exanthemata?

A

Measles, Group A streptococcus, rubella, coxsackie virus, parvovirus, human herpes virus 6

903
Q

What is an exanthem?

A

A rash that ‘bursts forth or blooms’ towards the end of incubating an infection. Widespread, symmetrically distributed. Red, discrete, or confluent macules or papules

904
Q

What are macules vs papules?

A

Macules: red/pink discrete, flat areas that blanch on pressure
Papules: small, raised lesions that blanch on pressure

905
Q

What are vesicleS?

A

Small, raised lesions that contain clear fluid

906
Q

What are bullae and pustules?

A

Large raised lesions containing clear fluid or pus

907
Q

What causes measles?

A

Measles virus

908
Q

What is pathognomic for measles?

A

Koplik spots (greyish white spots on the buccal mucosa)

909
Q

When do koplik spots appear in relation to the fever in measles?

A

2 days after the fever

910
Q

How long after exposure to the virus does measles start?

A

10-12 days

911
Q

How does the rash develop in measles?

A

Rash starts on the face, classically behind the ears, 3-5 days after the fever. Then spreads to the rest of the body

912
Q

What sort of rash occurs in measles?

A

Erythematous macular rash (flat)

913
Q

How long does it take for measles to resolve?

A

7-10 days

914
Q

When is measles infectious?

A

4 days before to 4 days after the rash

915
Q

What symptoms occur in the prodrome of measles?

A

3C’s: cough, coryza, conjunctivitis

916
Q

How is the diagnosis of measles confirmed?

A

measles RNA on oral fluid specimen

917
Q

What is the incubation period of measles?

A

10-14 days

918
Q

What is the treatment of measles?

A

Mostly supportive, contact public health, treat secondary infections, give MMR vaccine if they don’t already have it

919
Q

What deficiency can lead to a more severe course of measles?

A

Vitamin A

920
Q

What are the possible complications of measles; what is most common, what is the largest cause of death?

A
  • otitis media: most common complication
  • pneumonia: most common cause of death
  • encephalititis
921
Q

What causes Scarlet Fever?

A

Group A haemolytic Streptococci (usually S.pyogenes)

922
Q

What population is typically affected by Scarlet fever?

A

Children 2-6 years, peak incidence at 4 years

923
Q

How long is the incubation period for Scarlet Fever?

A

2-4 days

924
Q

What is the presentation of Scarlet Fever?

A

Fever, malaise, sore throat, strawberry tongue, rash (spares palms and soles)

925
Q

What is the rash in Scarlet Fever?

A

Fine, puntate erythema, appears first on the torso. Spares palms and soles. Rash often more obvious in flexures. Sandpaper texture.

926
Q

What is the investigation for measles?

A

Throat swab

927
Q

What is the management of Scarlet Fever?

A

Oral Penicillin for 10 days

928
Q

What can be a complication of Scarlet fever?

A
  • otitis media
  • rheumatic fever
  • acute glomerulonephritis
929
Q

What causes rubella?

A

The rubella virus

930
Q

What is the incubation period for rubella?

A

2- 3 weeks

931
Q

What is the period of infectivity in rubella?

A

7 days before the rash to 7 days after the rash

932
Q

How long does the rash last in rubella?

A

3 days

933
Q

How does the rash in rubella present?

A

Erythematous macular rash, starting on the face and spreading to the rest of the body

934
Q

What can be associated symptoms of rubella?

A

Lymphadenopathy, mild fever, joint pain, sore throat

935
Q

Why should children with rubella avoid pregnant women?

A

In the first 20 weeks, can lead to congenital rubella syndrome: triad of deafness, blindness, congenital heart disease

936
Q

What is Fourth disease?

A

Non specific viral rash

937
Q

What causes hand food and mouth disease?

A

Intestinal viruses of the picornaviridae family (coxsackie A16 and enterovirus 71)

938
Q

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

A

Mild systemic upset (sore throat, fever), oral ulcers, vesicles on palms +soles of feet (blister like)

939
Q

Do children with hand, foot and mouth disease need to be excluded from school?

A

No

939
Q

How is hand foot and mouth disease diagnosed?

A

Viral cultures, PCR

940
Q

What is fifth disease?

A

Parvovirus B19: also known as slapped cheek syndrome, and erythema infectiosum

941
Q

What is slapped cheek syndrome/erythema infectiosum caused by?

A

Parvovirus B19

942
Q

What is the prodrome of parvovirus infection, and when does the rash appear?

A
  • mild fever, coryza, non specific viral symptoms
  • rash around 5 days: slapped cheeks
  • can then spread to limbs, sparing palms and soles; raised and itchy
943
Q

What worsens the rash in parvovirus?

A

Sunlight, heat, exercise, stress. Can worsen for many months after illness

944
Q

What is the complication of parvovirus?

A

Reduces erythropoiesis; doesn’t affect most patients, but in SCA patients could cause severe aplastic crisis.

945
Q

What is the complication of parvovirus if encountered in pregnancy?

A

Cause severe foetal anaemia, can precipitate hydrops foetalis and subsequent miscarriage

946
Q

What causes Roseola infantum?

A

Human herpesvirus 6. Rarely HHV-7

947
Q

What is the disease course of roseola infantum?

A
  • 3-5 day of very high fever (up to 40 degrees), and mild systemic symptoms. Can have cough and diarrhoea. Fever suddenly dissappears
  • when fever settles, rash appears for 1-2 days on arms, legs, trunk, face
948
Q

What rash is present in roseola infantum?

A

Mild erythematous macular rash, not itchy

949
Q

What is a possible complication of roseola infantum?

A

Febrile seizures (most common cause)

950
Q

What are nagayama spots, and what disease are they seen in?

A

Papular enanthem on the uvula and soft palate. Seen in roseola infantum