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Phase 3a Revision > PAEDS > Flashcards

PAEDS Flashcards

1
Q

RESP OVERVIEW

What are some causes of respiratory infections in children?

A

80-90% viral –
- Respiratory syncytial virus (RSV), rhinoviruses, metapneumovirus, parainfluenza
Bacterial –
- Strep. pneumoniae, h. influenzae, moraxella catarrhalis, bordatella pertussis

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2
Q

RESP OVERVIEW

What are some risk factors for respiratory infections?

A
  • Parental smoking
  • Poor socioeconomic status
  • Male gender
  • Immunodeficiency
  • Underlying lung disease
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3
Q

RESP OVERVIEW
Cough is a very common symptoms with many causes.
What are some of the causes of cough?

A
  • Recurrent colds, allergic rhinitis (post-nasal drip)
  • Infections
  • Reflux (aspiration)
  • Passive smoking
  • CF, bronchiectasis, asthma
  • TB
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4
Q

URTI

What is the most common presentation of an upper respiratory tract infection (URTI)?

A
  • Combination of nasal discharge + blockage
  • Fever, sore throat, earache
  • Cough
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5
Q

URTI

What are some complications of URTIs?

A
  • Difficulty feeding + breathing
  • Febrile convulsions
  • Acute exacerbations of asthma
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6
Q

URTI
What is coryza?
How does it present?

A
  • Commonest infection in childhood (rhinoviruses, coronaviruses, RSV)
  • Clear or mucopurulent nasal discharge + blockage
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7
Q

URTI

What is the management of coryza?

A
  • Conservative (paracetamol, ibuprofen, fluids)
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8
Q

URTI
What is pharyngitis?
What are some causes?
What is the management?

A
  • Inflammation of the pharynx + soft palate with local tender lymphadenopathy
  • Adenoviruses, enteroviruses, rhinoviruses
  • In older children, group A beta-haemolytic strep pyogenes
  • Conservative, phenoxymethylpenicillin if strep throat
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9
Q

URTI
What is tonsillitis?
What causes it?

A
  • Form of pharyngitis where there’s intense inflammation of the tonsils, often with purulent exudate
  • Strep pyogenes, viral more common but cannot clinically distinguish
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10
Q

URTI

What criteria can be used to distinguish if tonsillitis is bacterial or viral?

A

CENTOR –
- Tonsillar exudate, tender ant. cervical lymphadenopathy, fever, absence of cough (≥3 ?strep)
FeverPAIN score –
- Fever, Purulence, Attend rapidly (3d after Sx), severely Inflamed tonsils, No cough/coryza (2–3 consider delayed, ≥4 consider Abx)

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11
Q

URTI
What is the main complication of tonsillitis?
How does it present?
What is the management?

A
  • Quinsy (peritonsillar abscess)
  • Severe sore throat (unilateral), uvula deviation, lockjaw
  • Incision + drainage + IV Abx
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12
Q

URTI

What is the management of tonsillitis?

A
  • Phenoxymethylpenicillin if bacterial (or erythromycin)

- Tonsillectomy last resort if quinsy (in 6w), recurrent severe (≥5/year) or OSA

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13
Q

URTI
Other than tonsils, what else might cause airway issues?
What are indications for management?

A
  • Adenoids grow faster than airway so narrow lumen greatest between 2–8y (regress)
  • Otitis media with effusion with hearing loss or OSA for adenotonsillectomy
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14
Q

URTI
What is otitis media?
Who is more at risk?

A
  • Acute infection of middle ear, affects most children, common 6–12m
  • Younger children as Eustachian tubes short, horizontal + function poorly
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15
Q

URTI
What are some causes of otitis media?
What is the clinical presentation of otitis media?

A
  • Viral (RSV, rhinovirus) + bacterial (pneumococcus #1, M. catarrhalis)
  • Ear pain, fever, reduced hearing ± coryza
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16
Q

URTI

How would you investigate otitis media?

A
  • Tympanic membrane bright red + bulging with loss of normal light reflection
  • May be pus visible with hole in TM in acute perforation
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17
Q

URTI

What are some complications of otitis media?

A
  • Extracranial = mastoiditis, tympanic membrane perforation, glue ear
  • Intracranial = meningitis, abscess, venous sinus thrombosis
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18
Q

URTI

What is the management of otitis media?

A
  • Regular pain relief (paracetamol, ibuprofen)

- Most resolve spontaneously, may need amoxicillin

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19
Q

URTI
What is glue ear/otitis media with effusion (OME)?
What investigations would you do?

A
  • Most common cause of conductive hearing loss in children
  • Otoscopy (TM appears dull + retracted, often with visible fluid level)
  • Flat trace on tympanometry + evidence of conductive loss on pure tone audiometry (or reduced hearing on distraction test if younger)
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20
Q

URTI

What is the management of OME?

A
  • Insertion of ventilation tubes (grommets) to drain excess fluid
  • Adenoidectomy as adenoids can harbour organisms + obstruct Eustachian tube so poor ventilation + drainage
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21
Q

URTI
What is sinusitis?
How does it present?
What is the management?

A
  • Infection of paranasal sinuses, may occur with viral URTIs
  • Sometimes secondary bacterial infection > pain, swelling + tenderness over cheek (maxillary)
  • Abx, topical decongestants + analgesia
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22
Q

PERTUSSIS
What is pertussis?
How common is it?
Who is at risk?

A
  • Highly contagious form of bronchitis caused by Bordetella pertussis > gram -ve aerobic coccobacillus
  • Endemic with epidemics every 3–4y
  • Infants not completed primary vaccines at 4m
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23
Q

PERTUSSIS

What is the clinical presentation of pertussis?

A
  • Week of coryza (catarrhal phase)
  • Paroxysmal spasmodic coughing bouts (attacks)
  • Followed by classic inspiratory whoop (infants may have apneoa not whoop, paroxysmal phase)
  • Spasms of cough > vomiting, epistaxis, subconjunctival haemorrhage
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24
Q

PERTUSSIS
How long does the cough last?
What causes the inspiratory whoop?

A
  • Can last for months = ‘100 day cough’

- Forced inspiration against a closed glottis

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25
Q

PERTUSSIS

What are the investigations for pertussis?

A
  • Nasopharyngeal swab with bacterial culture or PCR
  • Marked lymphocytosis on blood film (predom high lymphocytes)
  • Test for anti-pertussis toxin IgG if cough >2w
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26
Q

PERTUSSIS

What are some complications of pertussis?

A
  • Pneumonia
  • Convulsions
  • Bronchiectasis
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27
Q

PERTUSSIS

What is the management of pertussis?

A
  • Notify PHE
  • Prophylaxis = vaccine (esp. infants + pregnant women) or if close contact macrolide (erythromycin)
  • PO macrolides (azithromycin, clarithromycin) 1st line if onset <21d
  • School exclusion for 48h following Abx or 21d from onset if no Abx
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28
Q

PERTUSSIS

When should you admit a child to hospital with pertussis?

A
  • Suffering from cyanotic attacks

- <6m

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29
Q

LARYNX/TRACHEAL ISSUES

What are laryngeal + tracheal infections characterised by?

A
  • Stridor (rasping sound on inspiration)
  • Hoarseness of voice (inflamed vocal cords)
  • Barking cough
  • Variable degree of dyspnoea
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30
Q

LARYNX/TRACHEAL ISSUES

What are some causes of stridor?

A
  • Croup
  • Epiglottitis
  • Laryngomalacia
  • Inhaled foreign body
  • Tracheitis
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31
Q

LARYNX/TRACHEAL ISSUES

How can the severity of upper airway obstruction be clinically assessed in laryngeal and tracheal infections?

A
  • Chest recession (none, only on crying, at rest)
  • Degree of stridor (none, only on crying, at rest or biphasic)
  • Tracheal tug (none, present)
  • Sternal wall retractions (present or marked)
  • Lethargy or agitation + RD = severe
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32
Q

LARYNX/TRACHEAL ISSUES
What is the main issue with laryngeal and tracheal infections?
How can this be avoided?

A
  • Mucosal inflammation + swelling can rapidly cause life-threatening obstruction
  • Do NOT examine throat, keep calm
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33
Q

CROUP
What is croup (laryngotracheobronchitis)?
What is the epidemiology?
What is the aetiology

A
  • URTI causing oedema in larynx, oedema of subglottis dangerous (narrow trachea)
  • Peak incidence 2y (6m–3y), commonly Autumn
  • Parainfluenza viruses (#1), less so RSV, metapneumovirus, influenza
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34
Q

CROUP

What is the clinical presentation of croup?

A
  • Initial low grade fever + coryza start and are worse at night
  • Barking (seal-like) cough, harsh stridor + hoarseness
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35
Q

CROUP
What are the investigations for croup?
How do you assess croup severity?
When would you admit a patient to hospital?

A
  • Clinical but if CXR done PA view shows subglottic narrowing (steeple sign)
  • Westley score for severity (chest wall retractions, stridor, cyanosis, air entry + consciousness)
  • Mod-severe croup, <6m or upper airway issues (laryngomalacia)
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36
Q

CROUP

What is the management of croup?

A
  • PO dexamethasone 0.15mg/kg 1st line, can repeat at 12h
  • Nebulised budesonide (steroid)
  • High flow oxygen + nebulised adrenaline (more severe/emergency cases)
  • Monitor closely with anaesthetist + ENT input, intubation rare
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37
Q

BACTERIAL TRACHEITIS
What is bacterial tracheitis (pseudomembranous croup)?
What causes it?
What is the management?

A
  • Rare but dangerous, similar to severe viral croup but child has high fever, appears toxic + rapidly progressive airways obstruction with copious thick secretions
  • Staph aureus
  • IV Abx + intubation + ventilation if required
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38
Q

ACUTE EPIGLOTTITIS
What is acute epiglottitis?
What causes it?

A
  • Life-threatening emergency as high risk of obstruction due to intense swelling of epiglottis + surrounding tissues associated with septicaemia
  • Haemophilus influenza B (HiB), most common 1–6y
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39
Q

ACUTE EPIGLOTTITIS

What is the clinical presentation of acute epiglottitis?

A
  • Rapid onset, no preceding coryza
  • High fever in an ill, toxic looking child
  • Intensely painful throat (can’t drink, speak, drooling saliva)
  • Soft inspiratory stridor with absent or minimal cough
  • ‘Tripod’ position > optimise airway by leaning forward + extending neck
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40
Q

ACUTE EPIGLOTTITIS

What is the investigation for acute epiglottitis?

A
  • Clinical Dx but if CXR done lateral view show epiglottis swelling = thumb sign
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41
Q

ACUTE EPIGLOTTITIS

What is the management of epiglottitis?

A
  • Prevention HiB vaccine, rifampicin prophylaxis for close household contacts
  • Do NOT examine throat, anaethetist, paeds + ENT surgeon input
  • Intubation if severe, may need tracheostomy
  • IV ceftriaxone + dexamethasone given once airway secured
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42
Q 
LARYNGOMALACIA
What is laryngomalacia?
How does it present?
What investigation would you do?
What is the management?
A
  • Supraglottic larynx structured in a way that allows partial airway obstruction + stridor on inspiration (congenital floppy larynx)
  • Intermittent inspiratory stridor, worse when feeding, upset, on back or UTRI
  • Bronchoscopy = omega shaped epiglottis
  • Resolves as matures
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43
Q

BRONCHIOLITIS
What is bronchiolitis?
What is the epidemiology of bronchiolitis?

A
  • Inflammation + infection of bronchioles

- 90% aged 1–9m, less common after 1, common in the winter

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44
Q

BRONCHIOLITIS

What are the causes of bronchiolitis?

A
  • RSV #1, others = adenovirus, metapneumovirus + Mycoplasma

- Adenovirus associated with bronchiolitis obliterans (perm damage due to scarring, Rx steroids)

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45
Q

BRONCHIOLITIS

What are some risk factors for bronchiolitis?

A
  • Premature babies
  • CHD
  • Cystic fibrosis
  • Immune deficiency
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46
Q

BRONCHIOLITIS

What is the clinical presentation of bronchiolitis?

A
  • Coryzal Sx precede a sharp, dry cough with increasing breathlessness
  • Feeding difficulty associated with increasing dyspnoea
  • Respiratory distress
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47
Q

BRONCHIOLITIS

What are some signs of respiratory distress seen in bronchiolitis?

A
  • Subcostal + intercostal recession, apnoea
  • Hyperinflation of chest
  • Accessory muscles
  • Nasal flaring
  • Fine end-inspiratory crackles
  • Tracheal tug
  • Head bobbing
  • Grunting
  • High pitched wheezes
  • Tachypnoea, tachycardia
  • Low grade fever
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48
Q

BRONCHIOLITIS

What are some investigations for bronchiolitis?

A
  • Nasopharyngeal secretions PCR for RSV (immunofluorescence)
  • CXR may show hyperinflation due to small airways obstruction, air trapping + foetal atelectasis
  • Blood gas (capillary) if severe + ?ventilation > falling O2, rising CO2 + pH
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49
Q

BRONCHIOLITIS

What is the mainstay of management for bronchiolitis?

A
  • Supportive

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

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50
Q

BRONCHIOLITIS

What are some criteria for admission?

A
  • Apnoea
  • Severe resp distress (RR>60, marked chest recession, grunting)
  • Central cyanosis
  • SpO2 < 92%
  • Dehydration
  • 50–75% usual intake
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51
Q

BRONCHIOLITIS

What is the inpatient management of bronchiolitis?

A
  • Saline nasal drops
  • Small feed (NG 1st or IV if cannot tolerate)
  • Humidified oxygen via nasal cannula
  • Suction if excessive secretions
  • Assisted ventilation by CPAP or fully mechanical (rare)
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52
Q

BRONCHIOLITIS
What can be given as prevention against bronchiolitis?
Who would be given this?

A
  • Monoclonal Ab to RSV = palivizumab as monthly IM

- Reduces hospital admissions in high-risk infants (preterm, cystic fibrosis, congenital heart disease)

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53
Q

PNEUMONIA

What is pneumonia?

A
  • Infection + inflammation of the lung parenchyma
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54
Q

PNEUMONIA
What are the common causes of pneumonia in…

i) neonates?
ii) infants + young children?
iii) children >5?
iv) immunocompromised?

A

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

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55
Q

PNEUMONIA

What is the clinical presentation of pneumonia?

A
  • Fever + difficult breathing common presenting Sx
  • Often preceded by URTI
  • Productive cough, poor feeding, lethargy
  • Mycoplasma can present extra-pulmonary (erythema multiforme)
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56
Q

PNEUMONIA

What are some clinical signs of pneumonia?

A
  • Tachypnoea + tachycardia - Nasal flaring + chest indrawing, head bobbing
  • End-inspiratory focal coarse crackles
  • Other signs (dull percussion, bronchial breathing) can be absent in young
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57
Q

PNEUMONIA

What are some investigations for pneumonia?

A
  • SpO2 may be low
  • FBC, CRP ± blood cultures + sputum culture
  • CXR to confirm diagnosis
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58
Q

PNEUMONIA

How can CXR indicate what the causative organism may be?

A
  • Lobar consolidation (dense white area in a lobe) = pneumococcus
  • Rounded air-filled cavities (pneumatoceles) + multi-lobar = S. aureus
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59
Q

PNEUMONIA

What is a complication of pneumonia?

A
  • May have pleural effusion which can lead to empyema
  • Suspect if persistent fever, foul smelling mucus
  • Surgical drainage ± chest drain
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60
Q

PNEUMONIA
What is the prophylaxis for pneumonia?
What are indications for hospital admission?

A
  • Prophylaxis PCV vaccine with 13 common pneumococcus serotypes + HiB vaccine
  • SpO2 <92%, severe tachypnoea, grunting, apnoea, not feeding, family unable to provide appropriate care
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61
Q

PNEUMONIA

What is the management of pneumonia?

A
  • Newborns = IV broad-spec Abx
  • Older = PO amoxicillin with broad-spectrum Abx (co-amoxiclav) if unresponsive or influenza
  • Macrolides (erythromycin) to cover for mycoplasma, chlamydia or if unresponsive
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62
Q

VIRAL INDUCED WHEEZE
What is a wheeze?
What are the two types of viral induced wheeze?

A
  • Expiratory, polyphonic breathing sound created by air being forced through narrow air passage
  • Episodic viral = only wheezes when viral URTI + Sx free inbetween
  • Multiple trigger = as well as viral URTIs, other triggers (exercise, smoke)
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63
Q

VIRAL INDUCED WHEEZE
What causes viral induced wheeze?
What are some risk factors?
What is the epidemiology?

A
  • Often decreased lung function from birth from small airway diameter so more likely to narrow + obstruct due to inflammation from viral URTI
  • Maternal smoking during/after pregnancy + prematurity
  • M>F, usually resolves by 5 as airway size increases
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64
Q

VIRAL INDUCED WHEEZE
What is the clinical presentation of viral induced wheeze?
How is it different to asthma?
What is the management?

A
  • SOB, signs of resp distress, widespread expiratory wheeze
  • Preschool (1-3y), no atopy + only during viral infections
  • PRN salbutamol 1st line, Montelukast or ICS or both = 2nd line
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65
Q

ASTHMA

What is asthma?

A
  • Chronic inflammatory airway disease causing episodic exacerbations of bronchoconstriction due to smooth muscle contraction of the airways (bronchi)
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66
Q

ASTHMA

What are the characteristics of asthma?

A
  • Airflow limitation due to bronchospasm (reversible spontaneously or with Tx)
  • Airway hyperresponsiveness to various triggers
  • Bronchial inflammation
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67
Q

ASTHMA

What is the consequence of bronchial inflammation?

A
  • Oedema
  • Excessive mucus production
  • Infiltration with cells (eosinophils, mast cells, neutrophils, lymphocytes)
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68
Q

ASTHMA

What are the 2 main classifications of asthma?

A

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

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69
Q

ASTHMA
What are some triggers of non-allergic asthma?
What are some risk factors for asthma?

A
  • Smoking, allergens, exercise, cold/damp air, animals, beta-blockers, NSAIDs, occupations
  • LBW, FHx, bottle fed, atopy, male, pollution
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70
Q

ASTHMA

What is the clinical presentation of asthma?

A
  • Dry cough, SOB, chest tightness
  • Bilateral widespread polyphonic wheeze
  • Episodic Sx with diurnal variability (worse at night + early morning)
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71
Q

ASTHMA

What are some investigations for asthma?

A
  • Clinical Dx (RCP3 Qs)
  • FBC = eosinophilia (atopy)
  • Fractional exhaled nitric oxide >40ppb = inflamed airways
  • Peak expiratory flow rate diary
  • Spirometry
  • Atopy (skin prick or IgE showing ≥1 allergen + constant wheeze)
  • ?CXR to exclude other causes (hyperinflation)
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72
Q

ASTHMA

What are the RCP3 questions and what are they used for?

A

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

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73
Q

ASTHMA

What is purpose of a peak expiratory flow rate diary?

A
  • 2 readings a day will show diurnal variation >20% on ≥3d/week
  • Will show bronchodilator responsiveness too
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74
Q

ASTHMA

What is the purpose of spirometry?

A
  • Obstructive pattern = FEV1 <80%, FEV1/FVC < 70%

- Bronchodilator responsiveness = FEV1 ≥12% improvement

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75
Q

ASTHMA

What is some conservative management for asthma?

A
  • Inhaler technique
  • Avoid triggers
  • Monitor peak flow diary
  • Yearly flu jab + asthma review
  • Asthma self-management programme
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76
Q

ASTHMA

Name 6 potential treatments that can be used in asthma

A
  • SABA = salbutamol, terbutaline “reliever”
  • ICS = beclomethasone “preventer”
  • LABA = salmeterol, formoterol
  • Leukotriene receptor antagonists = montelukast
  • Theophylline = aminophylline
  • Maintenance + reliever therapy = combined low dose ICS + fast acting LABA
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77
Q

ASTHMA
What is the mechanism of action for…

i) SABA?
ii) ICS?
iii) LABA?

A

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

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78
Q

ASTHMA
What is the mechanism of action for…

i) LTRA?
ii) theophyllines?
iii) MART?

A

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

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79
Q

ASTHMA
What are the important side effects of…

i) SABA?
ii) ICS?
iii) theophylline?

A

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

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80
Q

ASTHMA

What is the stepwise management of chronic asthma in <5y?

A
  • 1 = PRN SABA
  • 2 = Low dose ICS OR PO montelukast
  • 3 = Other option from 2
  • 4 = refer to specialist
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81
Q

ASTHMA

What is the stepwise management of chronic asthma >5y?

A
  • 1 = PRN SABA
  • 2 = SABA + low dose ICS
  • 3 = SABA + low dose ICS + LABA (only continue if good response)
  • 4 = increase ICS dose (?LTRA or PO theophylline)
  • 5 = PO steroids in lowest tolerated dose
  • May need immunosuppression or immunomodulation therapy with specialist referral
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82
Q

ASTHMA

What are some reasons for failure to respond to treatment for asthma?

A

ABCDE –

  • Adherence (#1)
  • Bad disease (dose inadequate for severity)
  • Choice of drug/device (different pts respond differently)
  • Diagnosis (?correct)
  • Environment (?trigger)
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83
Q

ASTHMA
What is acute asthma?
What can cause it?
How does it present?

A
  • Acute exacerbation of asthma characterised by rapid deterioration in Sx
  • Any of typical asthma triggers
  • Worsening dyspnoea, use of accessory muscles, tachypnoea, symmetrical expiratory wheeze, reduced air entry
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84
Q

ASTHMA

What is classed as a severe asthma exacerbation?

A
  • PEFR 33–50% predicted
  • Unable to complete full sentences
  • RR>50 (2-5y), or >30 (>5y)
  • HR >130 (2-5y) or >120 (>5y)
  • Signs of resp distress (chest recessions)
  • SpO2 <92%
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85
Q

ASTHMA

What is classed as a life-threatening asthma exacerbation?

A
  • PEFR 33% predicted
  • Exhaustion/cyanosis
  • Poor respiratory effort
  • Altered consciousness, hypotension
  • Silent chest (airways so tight no air entry)
  • SpO2 <92%
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86
Q

ASTHMA

What are some investigations for exacerbation of asthma?

A
  • Monitor RR, peak flow, SpO2, chest auscultation
  • ECG monitoring for arrhythmias (low K+ from SABA + steroids)
  • ABG = initial resp alkalosis as tachypnoea causes drop in CO2, normal pCO2 or hypoxia concerning as indicates exhaustion, resp acidosis from high CO2 very bad sign
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87
Q

ASTHMA

What is the management of exacerbations of asthma?

A

O SHIT ME –

  • Oxygen (SpO2 94–98%)
  • Salbutamol (spacer or neb B2B, IV if no response to this + ipratropium as 2nd line)
  • Hydrocortisone IV or PO pred
  • Ipratropium bromide (neb if poor response to salbutamol)
  • Theophylline (IV)
  • Magnesium sulfate (IV)
  • Escalate early > ICU if not improving for ventilation ± intubation
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88
Q

CHRONIC LUNG INFECTION
When would you investigate for chronic lung infection?
What can cause it?

A
  • Any child with persistent cough that sounds wet (i.e. excess sputum in chest) or productive
  • May have bronchiectasis (may show on CXR but CT chest best) due to CF, primary ciliary dyskinesia, immunodeficiency or chronic aspiration
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89
Q

KARTAGENER SYNDROME

What is Kartagener syndrome (primary ciliary dyskinesia)?

A
  • AR congenital abnormality in structure/function of cilia > impaired mucociliary clearance > recurrent URTI/LRTI > bronchiectasis
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90
Q

KARTAGENER SYNDROME
What is the clinical presentation?
What is the management?

A
  • Recurrent productive cough, purulent nasal discharge + chronic ear infections
  • Kartagener’s triad = paranasal sinusitis, bronchiectasis + situs invertus
  • Daily physio to clear secretions, Abx for infections
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91
Q

CYSTIC FIBROSIS

What is cystic fibrosis?

A
  • Mutation in gene encoding cystic fibrosis transmembrane conductance regulator (CFTR) on chromosome 7 which is a cAMP dependent Cl- channel on cell membranes of lungs, pancreas, GI + reproductive tract
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92
Q

CYSTIC FIBROSIS

What is the pathophysiology of cystic fibrosis?

A
  • Decreased Cl- excretion into airway lumen + increased reabsorption of Na+ into epithelial cells means less excretion of salt (+ so water) > increased viscosity of airway secretion
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93
Q

CYSTIC FIBROSIS

What is the impact of cystic fibrosis in the various parts of the body?

A
  • Thick pancreatic + biliary secretions = blockage of ducts > lack of digestive enzymes in GI tract
  • Lungs = reduction in air surface liquid layer + impaired ciliary function = reduced airway clearance, bacterial colonisation + infections
  • Abnormal function of sweat glands = Na+ + Cl- in sweat (saltier)
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94
Q

CYSTIC FIBROSIS

What is the aetiology and epidemiology of cystic fibrosis?

A
  • Autosomal recessive condition
  • Most common mutation is deltaF508 deletion, more commonly in caucasians
  • 1 in 25 carriers + 1 in 2500 have CF
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95
Q

CYSTIC FIBROSIS

How does cystic fibrosis present in neonates?

A
  • Meconium ileus (SBO from thick intestinal secretions)
  • Failure to thrive, malabsorption, steatorrhoea
  • Prolonged neonatal jaundice
  • Recurrent chest infections
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96
Q

CYSTIC FIBROSIS
What is meconium ileus?
How does it present on imaging?

A
  • Not passing meconium in 24h, vomiting + abdo distension
  • Meconium pellets + microcolon on contrast enema
  • AXR will show dilated loops of bowel
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97
Q

CYSTIC FIBROSIS

How does cystic fibrosis present in young children?

A
  • Chronic cough with thick sputum production
  • Bronchiectasis
  • Rectal prolapse
  • Nasal polyps + sinusitis
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98
Q

CYSTIC FIBROSIS

How does cystic fibrosis present in older children + adolescents?

A
  • DM (pancreatic insufficiency)
  • Cirrhosis + portal HTN
  • Distal intestinal obstruction
  • Pneumothorax or recurrent haemoptysis
  • Sterility in males as absent vas deferens
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99
Q

CYSTIC FIBROSIS

What are some signs of cystic fibrosis?

A
  • Low weight or height on growth charts
  • Hyperinflation due to air trapping
  • Coarse inspiration crepitations ± expiratory wheeze
  • Finger clubbing
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100
Q

CYSTIC FIBROSIS

What are some complications of cystic fibrosis?

A
  • Respiratory tract infections
  • Cholesterol gallstones
  • Malabsorption + maldigestion due to pancreatic insufficiency (failure to thrive, steatorrhoea)
  • Biggest cause of death is respiratory failure
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101
Q

CYSTIC FIBROSIS

What are some typical causes of respiratory tract infections in cystic fibrosis?

A
  • S. aureus
  • H. influenzae
  • Pseudomonas aeruginosa
  • Bulkholderia cepacia associated with increased morbidity + mortality
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102
Q

CYSTIC FIBROSIS

What are some investigations for cystic fibrosis?

A
  • Guthrie test = raised immunoreactive trypsinogen
  • Sweat test = gold standard
  • Low faecal elastase = pancreatic insufficiency
  • Genetic testing for CFTR gene during pregnancy with amniocentesis or CVS
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103
Q

CYSTIC FIBROSIS
What is the sweat test?
What result is diagnostic?

A
  • Pilocarpine on patch of skin, attach electrodes + induces sweat
  • Diagnostic Cl- >60mmol/L (normal 1–30mmol/L)
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104
Q

CYSTIC FIBROSIS

Who is involved in the care of a patient with cystic fibrosis?

A
  • Resp paeds + GP
  • Physio
  • Specialist nurses
  • Dietician
  • Genetic counsellor for family
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105
Q

CYSTIC FIBROSIS

How is the respiratory aspects of cystic fibrosis managed?

A
  • Chest physio ≥BD for airway clearance
  • Rescue Abx when needed (may have portacath) + long-term prophylactic flucloxacillin (S. aureus) –avoid other CF pts
  • Bronchodilators
  • Nebulised hypertonic saline
  • Nebulised DNase
  • Oxygen + CPAP
  • Heart + lung transplant
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106
Q

CYSTIC FIBROSIS

What is DNase?

A
  • Enzyme that can break down DNA material in respiratory secretions to decrease sputum viscosity + increase clearance
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107
Q

CYSTIC FIBROSIS

What is the nutritional management of cystic fibrosis?

A
  • High calorie, high fat diet
  • Pancreatic enzyme replacement therapy (Creon) with all food
  • Gastrostomy for overnight feeding
  • Fat soluble (ADEK) vitamins
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108
Q

SLEEP BREATHING ISSUES
What is the most common cause of obstructive sleep apnoea?
How may it present?

A
  • Upper airway obstruction to adeno-tonsillar hypertrophy
  • Loud snoring, episodes of apnoea (30-45s), disturbed sleep
  • Children may be obese, underweight, hyperactive or excessively sleepy during day
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109
Q

SLEEP BREATHING ISSUES

What are some investigations for sleep related breathing disorders?

A
  • Overnight pulse ox can show frequency + severity of <92% desaturation
  • Overnight sleep studies will show intermittent hypoxia + hypercapnia
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110
Q

SLEEP BREATHING ISSUES

What is the management of sleep related breathing disorders?

A
  • Adeno-tonsillectomy (if adeno-tonsillar hypertrophy) often curative
  • Nasal or facemask CPAP or BiPAP may be required at night
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111
Q

FEBRILE CHILD
What system is used to assess a febrile child?
What are the main components?

A
  • NICE traffic light system for <5
  • Colour (skin, lips, tongue)
  • Activity
  • Respiratory
  • Circulation + hydration
  • Other
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112
Q

FEBRILE CHILD
In terms of the NICE traffic light system, what is considered amber for…

i) colour?
ii) activity?
iii) respiratory?
iv) circulation and hydration?
v) other?

A

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

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113
Q

FEBRILE CHILD
In terms of the NICE traffic light system, what is considered red for…

i) colour?
ii) activity?
iii) respiratory?
iv) circulation and hydration?
v) other?

A

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

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114
Q

FEBRILE CHILD

What are some common and uncommon causes of fever?

A
  • URTI, tonsillitis, otitis media, UTI

- Meningitis, epiglottitis, kawasaki disease, TB

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115
Q

FEBRILE CHILD

What is the management of a green score?

A
  • Manage at home with safety netting

- Regular fluids, monitor child, contact if concerned

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116
Q

FEBRILE CHILD

What is safety netting?

A
  • Clear verbal ± written advice about warning signs with plan of action
  • Follow up if required
  • Liaise with other HCPs so direct access if child needs
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117
Q

FEBRILE CHILD

What is the management of an amber score?

A
  • F2F assessment with paeds or specialist for further investigation
  • ?Home with safety net
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118
Q

FEBRILE CHILD

What is the management of a red score?

A
  • Urgent referral to hospital for specialist assessment (?999)
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119
Q

CHICKEN POX
What is chicken pox?
How does it spread?
How long is it contagious for?

A
  • Primary infection by Varicella zoster virus (human herpes virus 3)
  • Droplet via resp route
  • Contagious 4d before rash + until lesions crusted (often 5d)
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120
Q

CHICKEN POX

What are some risk factors for chicken pox?

A
  • Immunocompromised
  • Older age
  • Steroids
  • Malignancy
  • Neonates
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121
Q

CHICKEN POX

What is the clinical presentation of chicken pox?

A
  • Prodromal high fever 38-39 often ceases when rash appears, malaise
  • Very itchy, vesicular rash starts on head + trunk > peripheries
  • Not infective once vesicles have crusted over (5d usually)
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122
Q

CHICKEN POX

What are some complications of chicken pox?

A
  • Secondary bacterial infection
  • Shingles (older children)
  • Ramsay Hunt syndrome (older children)
  • Risk to immunocompromised, neonates + pregnant women
  • Rarer = pneumonia, encephalitis
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123
Q

CHICKEN POX
How does secondary bacterial infection present in chicken pox?
How is it managed?

A
  • Small area of cellulitis or erythema, persistent fever
  • Small risk staph/group A strep infection > necrotising fasciitis
  • NSAIDs may increase risk, Rx with Abx (IV if severe or dehydrated)
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124
Q

CHICKEN POX
What is shingles?
How does it present?
Management?

A
  • Reactivation of dormant virus > herpes zoster virus (shingles) in dorsal root ganglia
  • Characteristic rash in dermatomal distribution, acute, unilateral, blistering painful rash
  • Rx with PO aciclovir
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125
Q

CHICKEN POX
What is Ramsay Hunt syndrome?
How does it present?
Management?

A
  • Herpes zoster oticus > reactivation of varicella zoster virus in geniculate ganglion of CN7
  • Auricular pain, facial nerve palsy, vesicular rash around ear, ?vertigo + tinnitus
  • PO aciclovir + corticosteroids
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126
Q

CHICKEN POX
What is the risk of chicken pox to…

i) immunocompromised?
ii) neonates?
iii) pregnant?

A

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

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127
Q

CHICKEN POX

What is the management of chicken pox?

A
  • Camomile lotion to stop itching
  • Avoid high risk groups
  • Trim nails
  • School exclusion until all lesions crusted over (usually 5d after rash)
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128
Q

MENINGITIS
What is meningitis?
How does it occur?

A
  • Inflammation of the meninges which line the brain + spinal cord
  • Microorganisms reach meninges by direct extension from ears, nasopharynx or bloodstream spread
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129
Q

MENINGITIS

What are the most common causes of bacterial meningitis?

A
  • Neonates = GBS or listeria monocytogenes
  • 1m–6y = N. meningitidis (gram -ve diplococci), S. pneumoniae (gram + ve cocci chain), H. influenzae
  • > 6y = meningococcus + pneumococcus, rarely TB
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130
Q

MENINGITIS

What are some other causes of meningitis?

A
  • Herpes simplex virus (HSV), enteroviruses, EBV + varicella zoster virus
  • Aseptic/sterile by malignancy or autoimmune diseases
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131
Q

MENINGITIS

What are the symptoms of meningitis?

A
  • Fever, headache, vomiting, drowsiness, poor feeding, irritable/lethargic
  • Later may have seizures, focal neurology, decreased GCS/coma
  • Neonates may have hypothermia, lethargy + hypotonia
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132
Q

MENINGITIS

What are some signs of meningitis?

A
  • Meningism = neck stiffness (not always present), photophobia
  • Bulging fontanelle, opisthotonos, signs of shock
  • +ve Kernig’s + Brudzinski
  • Non-blanching petechial/purpuric rash = later sign in meningococcal septicaemia (endotoxin causes DIC + subcut haemorrhages)
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133
Q

MENINGITIS

What is the difference between Kernig’s and Brudzinski signs?

A
  • Kernig = pain/unable to extend leg at knee when it’s bent

- Brudzinski = involuntary flexion of hips/knees when neck flexed

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134
Q

MENINGITIS

What investigations would you do for meningitis?

A
  • Blood cultures + serology (before LP + Abx unless undesirable delay)
  • FBC, U+E, LFTs, CRP, blood glucose
  • LP for MC&S with protein, cell count, glucose + viral PCR
  • ?CT head if other signs like papilloedema
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135
Q

MENINGITIS
When would you not perform a lumbar puncture?
Why?

A
  • Signs of increased ICP, focal neurology, local infection, unduly delay starting Abx or coagulopathies
  • Coning of cerebellar tonsils via foramen magnum
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136
Q

MENINGITIS
You suspect a diagnosis of bacterial meningitis. How would a lumbar puncture confirm the diagnosis for…

i) appearance?
ii) protein?
iii) glucose?
iv) white cell count?
v) other?

A

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

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137
Q

MENINGITIS
You suspect a diagnosis of viral meningitis. How would a lumbar puncture confirm the diagnosis for…

i) appearance?
ii) protein?
iii) glucose?
iv) white cell count?
v) other?

A

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

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138
Q

MENINGITIS
You suspect a diagnosis of TB meningitis. How would a lumbar puncture confirm the diagnosis for…

i) appearance?
ii) protein?
iii) glucose?
iv) white cell count?
v) other?

A

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

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139
Q

MENINGITIS

What are some complications of meningitis?

A
  • Hearing (sensorineural) loss is key complication
  • Seizures + epilepsy, cerebral abscess, encephalitis + hydrocephalus
  • Cognitive impairment, cerebral palsy + LD
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140
Q

MENINGITIS

What is the management of bacterial meningitis?

A
  • Supportive = correct shock with fluids, oxygen if needed
  • <3m = IV cefotaxime + amoxicillin (cover listeria from ?pregnancy)
  • > 3m = IV ceftriaxone + IV dexamethasone to reduce frequency + severity of hearing loss + neuro damage (NOT before 3m)
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141
Q

MENINGITIS

What is the management of viral meningitis?

A
  • Milder so supportive + aciclovir if HSV or VSZ
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142
Q

MENINGITIS
You see a child with a non-blanching petechial rash in GP and are concerned about meningococcal septicaemia so call for an ambulance.
What immediate treatment should you give if possible?

A
  • IM benzylpenicillin
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143
Q 
MENINGITIS
What defines a close contact?
What should be given to close contacts?
Which one is preferred?
What should it be given for?
A
  • ≤7d contact
  • Single dose ciprofloxacin or rifampicin
  • Ciprofloxacin as can use for any age, pregnant ladies + does not interfere with OCP
  • Post-exposure prophylaxis for meningococcal meningitis
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144
Q

MENINGITIS
What are the drawbacks with…

i) ciprofloxacin?
ii) rifampicin?

A

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

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145
Q

MENINGITIS

What Public Health aspects are important in terms of meningitis?

A
  • Meningitis B vaccine at 8w, 16w + 1y (men C at 1y too) and ACWY offered to teenagers + uni students
  • Bacterial meningitis + meningococcal = notifiable diseases
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146
Q

ENCEPHALITIS
What is encephalitis?
What causes it?

A
  • Inflammation of the brain parenchyma
  • Mostly viral – herpes viruses (HSV 1 if child or 2 if neonate from birth, VZV), enteroviruses, EBV, resp viruses
  • Non viral = any bacterial meningitis, TB, lyme disease
  • Non-infective = autoimmune antibodies against brain
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147
Q

ENCEPHALITIS

What is the clinical presentation of encephalitis?

A
  • Similar to meningitis = fever, headache, photophobia, neck stiffness
  • KEY difference = altered mental state (behavioural change, confusion)
  • Acute onset focal neurology (hemiparesis, dysphasia, focal seizures)
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148
Q

ENCEPHALITIS

What are the investigations for encephalitis?

A
  • FBC, U+Es, blood cultures + serology for viral PCR
  • LP for MC&S with protein, cell count, glucose + viral PCR
  • CT/MRI head to visualise brain as ?focal changes, particularly temporal lobes
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149
Q

ENCEPHALITIS
What would the CSF analysis show in encephalitis for…

i) appearance?
ii) protein?
iii) glucose?
iv) white cell count?

A

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

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150
Q

ENCEPHALITIS

What is the management of encephalitis?

A
  • IV aciclovir to cover HSV, Abx in case bacterial meningitis
  • Supportive therapy in HDU/ICU if needed
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151
Q

SEPTICAEMIA

What is septicaemia?

A
  • Bacteria proliferates into bloodstream as host response includes release of inflammatory cytokines + activation of endothelial cells which can lead to septic shock
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152
Q

SEPTICAEMIA
What are the causes of septicaemia?
What are some risk factors?

A
  • Most common = N. meningitidis
  • Neonates = GBS or gram -ve organisms from birth canal
  • Sickle cell disease + immunodeficiency
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153
Q

SEPTICAEMIA

What are the symptoms and signs of septicaemia?

A
  • Fever, poor feeding, irritable/lethargic, Hx of focal infection
  • Fever, purpuric non-blanching rash, multi-organ failure
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154
Q

SEPTICAEMIA

How does shock present?

A
  • Tachycardia + tachypnoea
  • Cold peripheries
  • Capillary refill >2s
  • Hypotensive
  • Oliguria
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155
Q

SEPTICAEMIA

What is the management of septicaemia?

A
  • Septic screen (FBC, U+Es, blood cultures, urine MC&S, LP/CSF, CXR, acute phase reactant like CRP)
  • Aggressive fluid resus, ?ICU
  • Broad-spec Abx until cultures back
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156
Q

KAWASAKI DISEASE
What is Kawasaki disease?
What is the epidemiology?

A
  • Idiopathic medium-sized vessel systemic vasculitis, mainly affects 6m–5y
  • More common in children of Japanese or Afro-Caribbean ethnicity
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157
Q

KAWASAKI DISEASE

What is the diagnostic criteria for Kawasaki disease?

A

Fever + 4 (MyHEART) –

  • Mucosal involvement (red/dry cracked lips, strawberry tongue)
  • Hands + feet (erythema then desquamation)
  • Eyes (bilateral conjunctival injection, non-purulent)
  • lymphAdenopathy (unilateral cervical >1.5cm)
  • Rash (polymorphic involving extremities, trunk + perineal regions
  • Temp >39 for >5d
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158
Q

KAWASAKI DISEASE

What are the 3 phases of Kawasaki disease?

A
  • Acute (1–2w) = child most unwell, fever, rash, lymphadenopathy
  • Subacute (2–4w) = acute Sx settle, desquamation + Risk of coronary artery aneurysms
  • Convalescent (2–4w) = remaining Sx settle, blood markers normalise slowly
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159
Q

KAWASAKI DISEASE
What is a key complication of Kawasaki disease?
What are some investigations for Kawasaki disease?

A
  • Coronary artery aneurysm + sudden death
  • FBC (raised WCC), raised ESR + CRP, raised platelets (week 2)
  • Echocardiogram with close follow up (6w) to rule out aneurysm
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160
Q

KAWASAKI DISEASE
What is the management of Kawasaki disease?
Side effects?

A
  • Prompt IVIg to reduce risk of aneurysm + aspirin to reduce risk of thrombosis
  • If fever persists = infliximab, steroids or ciclosporin
  • IVIg - anaphylaxis, aseptic meningitis, organ dysfunction
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161
Q

KAWASAKI DISEASE
Why is the management of Kawasaki disease unique?
Prognosis?

A
  • Aspirin normally contraindicated in children due to risk of Reye’s syndrome (swelling of the liver + brain)
  • 50% evidence of cardiac impairment + mild MR, long-term follow up
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162
Q

MEASLES
What is measles?
What is a risk factor?

A
  • Infection with measles virus (Morbillivirus) via droplets (highly contagious)
  • Avoidance of MMR vaccine
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163
Q

MEASLES

What is the clinical presentation of measles?

A
  • Prodromal Sx for 3–5d (CCCK) – Cough, Coryza, Conjunctivitis, Koplik spots
  • Maculopapular rash starts on forehead, neck + behind ears > down to limb, trunk
  • Fever, marked malaise
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164
Q

MEASLES
What are Koplik spots?
What are the investigations for measles?

A
  • White spots on buccal mucosa = pathognomonic

- Clinical Dx with serological (blood or saliva) testing for epidemiology

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165
Q

MEASLES

What are some important complications of measles?

A
  • Otitis media (commonest complication)
  • Pneumonia (commonest cause of death)
  • Diarrhoea
  • Febrile convulsions, encephalitis
  • Subacute sclerosing panencephalitis rare where 5-10y after primary measles > loss of neuro function, dementia + death
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166
Q

MEASLES

What is the management of measles?

A
  • Notifiable disease
  • Best treatment is prevention with MMR vaccine
  • Viral illness so supportive (fluids, isolate if in hospital)
  • Antivirals in immunocompromised
  • School exclusion for 4d from rash onset
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167
Q

RUBELLA
What is rubella?
How does it spread?

A
  • Mild notifiable disease occurring in winter + spring

- Spreads via respiratory route, often from known contact, prevention via vaccine

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168
Q

RUBELLA

What is the clinical presentation of rubella?

A
  • Mild prodrome (low-grade fever, sore throat, coryza)
  • Pink maculopapular rash starts on face then spreads down to cover whole body
  • Rash not itchy in children but is in adults
  • Suboccipital + postauricular lymphadenopathy
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169
Q

RUBELLA

What are the investigations for rubella?

A
  • Clinical Dx

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

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170
Q

RUBELLA
What are some complications of rubella?
How can it be reduced?

A
  • Rare but > encephalitis, arthritis, myocarditis + thrombocytopenia
  • Congenital rubella syndrome > cataracts, CHD + sensorineural deafness
  • Avoid pregnant women, school exclusion 4d from rash, ensure vaccinated
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171
Q

MUMPS
What is mumps?
How does it occur?
What marker may be found?

A
  • RNA paramyxovirus, occurs in winter + spring, spreads via resp droplets where virus replicates in epithelial cells
  • Virus accesses parotid glands before further dissemination
  • Raised amylase
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172
Q

MUMPS

What is the clinical presentation of mumps?

A
  • Fever, malaise + parotitis
  • Parotitis often unilateral initially then bilateral > uncomfortable + may have earache or pain when eating/drinking
  • May have hearing loss but often unilateral + transient
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173
Q

MUMPS

What are some complications of mumps?

A
  • Viral meningitis + encephalitis
  • Orchitis (usually unilateral, may reduce sperm count + lead to infertility)
  • Pancreatitis
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174
Q

MUMPS

What is the management of mumps?

A
  • Notifiable disease
  • Prophylaxis via vaccine
  • Clinical Dx, manage Sx as viral
  • School exclusion for 5d of onset of parotid swelling
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175
Q

HAND, FOOT + MOUTH
What is hand, foot and mouth disease?
How does it present?

A
  • Caused by coxsackie A16 virus
  • Mild viral URTI (sore throat, cough, fever)
  • Painful red vesicular lesions on hands, feet, mouth + tongue (often buttocks too)
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176
Q

HAND, FOOT + MOUTH

What is the management of hand, foot and mouth disease?

A
  • Subsides within few days, supportive with fluids, analgesia
  • Very contagious, avoid sharing towels + bedding, good handwashing
  • Only exclude from school if unwell
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177
Q

GLANDULAR FEVER
What is glandular fever, or infectious mononucleosis, caused by?
How is it spread?

A
  • Epstein-Barr virus (EBV), particular tropism for B lymphocytes + epithelial cells of pharynx
  • Oral contact ‘kissing disease’
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178
Q

GLANDULAR FEVER

What is the clinical presentation of glandular fever?

A
  • Triad of severe sore throat (tonsillopharyngitis can limit oral intake), lymphadenopathy (cervical) + pyrexia
  • May have petechiae on soft palate, splenomegaly + headache
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179
Q

GLANDULAR FEVER
What are the investigations for glandular fever?
What are the complications of glandular fever?

A
  • FBC (lymphocytosis) + positive Monospot test with heterophile antibodies
  • Splenic rupture, haemolytic anaemia, chronic fatigue, EBV associated with Burkitt’s lymphoma
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180
Q

GLANDULAR FEVER

What is the management of glandular fever?

A
  • Conservative (fluids, analgesia)
  • Avoid alcohol + contact sports for 8w after to reduce risk of splenic rupture
  • Avoid amoxicillin as can cause florid, pruritic maculopapular rash
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181
Q

SCARLET FEVER
What is scarlet fever?
How is it spread?

A
  • Reaction to strep pyogenes (group A beta haemolytic) toxin

- Via respiratory droplets

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182
Q

SCARLET FEVER

What is the clinical presentation of scarlet fever?

A
  • Prodrome = sore throat, fever, vomiting + abdo pain
  • Red-pink diffuse rash that is ‘rough sandpaper-like’ + ‘pinhead’, starts on trunk + spreads outwards
  • May have exudative tonsils + strawberry tongue
  • Tender cervical lymphadenopathy
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183
Q

SCARLET FEVER
What is the investigation of choice for scarlet fever?
What are some complications of scarlet fever?

A
  • Throat swab (but start Abx)

- Otitis media (#1), quinsy, post-strep glomerulonephritis, rheumatic fever

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184
Q

SCARLET FEVER

What is the management of scarlet fever?

A
  • Notifiable disease
  • Phenoxymethylpenicillin for 10d to prevent rheumatic fever
  • Supportive (fluids, pain relief)
  • School exclusion until 24h after Abx
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185
Q

ROSEOLA INFANTUM
What is roseola infantum?
How is it spread?

A
  • Caused by human herpes virus 6+7

- Classically most children infected by age 2, often from oral secretions of a family member

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186
Q

ROSEOLA INFANTUM
What is the clinical presentation of roseola infantum?
What is a key feature of roseola infantum?

A
  • High fever (up to 40) with malaise lasting a few days + then settles suddenly
  • As fever settled, followed by generalised macular rash (chest > limbs)
  • Common cause of febrile convulsions
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187
Q

ROSEOLA INFANTUM

What is the management of roseola infantum?

A
  • Often full recovery in a week with no school exclusion if well
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188
Q

SLAPPED CHEEK
What is slapped cheek syndrome, or erythema infectiosum?
What is important to note?
How is it spread?

A
  • Caused by parvovirus B19, outbreaks common during spring months
  • Infects red cell precursors in bone marrow > ?complications
  • Respiratory secretions, vertical transmission + transfusions
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189
Q

SLAPPED CHEEK

What is the clinical presentation of slapped cheek syndrome?

A
  • Prodromal Sx = fever, malaise, headache, myalgia
  • Followed by classic rose-red rash on face week later (slapped-cheek)
  • Progresses to maculopapular, ‘lace-like’ rash on trunk + limbs
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190
Q

SLAPPED CHEEK

What are some complications of slapped cheek syndrome?

A
  • Aplastic crisis (most serious) more common in chronic haemolytic anaemias like sickle cell, thalassaemia + in immunocompromised
  • Vertical transmission can lead to foetal hydrops + death due to severe anaemia
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191
Q

STAPH + STREP INFECTION

What are the different ways that staph can cause diseases?

A
  • Direct invasion of bacteria = abscess, cellulitis, impetigo
  • Toxin-mediated (indirect) = toxic shock, food poisoning
  • Toxin-mediated (direct) = SSS
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192
Q

STAPH + STREP INFECTION
What is a boil?
How are they managed?

A
  • Infections of hair follicles or sweat glands by s. aureus

- Systemic Abx + occasionally surgery

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193
Q

IMPETIGO
What is impetigo?
Who is it common in?
How is it spread?

A
  • Localised, highly contagious infection by S. aureus or Strep pyogenes
  • Children with pre-existing skin disease (atopic eczema)
  • Rapidly by autoinoculation by infected exudate
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194
Q

IMPETIGO

What are the 2 types of impetigo?

A
  • Non-bullous + bullous
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195
Q

IMPETIGO

What is non-bullous impetigo?

A
  • Pustules or vesicles typically around nose or mouth

- Exudate dries > golden crust, itchy but usually not unwell

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196
Q

IMPETIGO
What is bullous impetigo?
Who is it seen in?

A
  • Epidermolytic toxins breakdown proteins that hold skin cells together > fluid-filled vesicles (bullae)
  • Rupture + fluid exudation > classic golden/honey crusted lesions
  • More common in neonates or <2y, commonly systemically unwell
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197
Q

IMPETIGO

What are some complications of impetigo?

A
  • Risk of SSSS

- Post-strep glomerulonephritis

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198
Q

IMPETIGO

What is the management of impetigo?

A
  • Swab vesicles, avoid sharing towels, cutlery, try not to scratch
  • Hydrogen peroxide 1% cream (or mupirocin)
  • PO flucloxacillin if severe + systemically unwell
  • School exclusion until lesions crusted + healed or 48h after Abx
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199
Q

STAPH SCALDED SKIN
What is staphylococcal scalded skin syndrome (SSSS)?
Who is it more common in?
What is an important differential?

A
  • Caused by type of S. aureus that produces epidermolytic toxins that breakdown proteins that hold skin together
  • Children <5y as when older, immunity to toxins
  • Steven-Johnson’s syndrome
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200
Q

STAPH SCALDED SKIN

What is the clinical presentation of SSSS?

A
  • Starts as generalised patches of erythema on the skin, skin looks thin + wrinkled
  • Bullae formation which burst + leave very sore, erythematous skin below (like a burn/scald)
  • Nikolsky sign = gentle rubbing causes peeling
  • Systemic Sx = fever, lethargy, dehydration > sepsis
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201
Q

STAPH SCALDED SKIN

What is the management of SSSS?

A
  • Most need admission for IV flucloxacillin, fluid balance + analgesia
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202
Q

TOXIC SHOCK SYNDROME
What is toxic shock syndrome?
What is the pathophysiology?
What can it be caused by?

A
  • Toxin producing S. aureus + group A strep released from infection
  • Acts as a superantigen to cause multi-organ dysfunction
  • Tampons being left in, female barrier contraceptive
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203
Q

TOXIC SHOCK SYNDROME

What is the clinical presentation of toxic shock syndrome?

A
  • Fever ≥39
  • Hypotension (shock)
  • Diffuse erythematous rash
  • Desquamation of rash (esp. palms + soles) 1-2w after
  • Multi-organ dysfunction
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204
Q

TOXIC SHOCK SYNDROME

Give some examples of multi-organ dysfunction in toxic shock syndrome

A
  • GI = D+V
  • CNS = confusion
  • Thrombocytopenia
  • Renal failure
  • Hepatitis
  • Clotting abnormalities
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205
Q

NECROTISING FASCIITIS
What is necrotising fasciitis?
What causes it?

A
  • Severe subcutaneous infection with severe pain + systemic illness
  • Staph aureus or strep pyogenes ± another synergistic anaerobic organism
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206
Q

NECROTISING FASCIITIS
What is the clinical presentation of necrotising fasciitis?
What may it result from?

A
  • Acute onset, painful erythematous lesion
  • Necrotic skin affecting all skin layers down to fascia + muscle
  • May be complication from cellulitis infection in soft tissues
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207
Q

NECROTISING FASCIITIS

What is the management of necrotising fasciitis?

A
  • IV Abx (flucloxacillin) PLUS surgical debridement

- ?ICU, ?IVIg

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208
Q

HERPES SIMPLEX
What are the two types of herpes simplex virus?
How is it spread?

A
  • HSV1 = lip + skin lesion, HSV2 = genital lesions

- Enters via mucous membranes or skin (kissing, genital contact, vertical transmission at birth)

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209
Q

HERPES SIMPLEX

What are the various manifestations of herpes simplex infection?

A
  • Gingivostomatitis
  • Cold sores on lip
  • Eczema herpeticum
  • Herpetic whitlows
  • Eyes = blepharitis or conjunctivitis
  • CNS = aseptic meningitis, encephalitis
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210
Q

HERPES SIMPLEX
What is gingivostomatitis?
How may it present?
How is it managed?

A
  • Vesicular lesions on lips, gums, tongue which can lead to painful ulceration + bleeding
  • High fever, miserable child, oral intake may hurt
  • Supportive but PO aciclovir if severe, chlorhexidine mouthwash
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211
Q 
HERPES SIMPLEX
What is eczema herpeticum?
How does it present?
What is a complication?
How is it managed?
A
  • Widespread vesicular lesions with pus developing on eczematous skin
  • Fever, lethargy, lymphadenopathy
  • Secondary bacterial infection + septicaemia
  • IV aciclovir as life-threatening, bacterial infection will need Abx
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212
Q

HERPES SIMPLEX
What are herpetic whitlows?
How can they occur?

A
  • Painful pustules on site of broken skin on fingers

- Infected adult kissing a child’s finger

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213
Q

HIV

How is HIV spread?

A
  • Mainly vertical

- Rarely = sexual abuse, needles

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214
Q

HIV

What are some symptoms of immunosuppression in HIV?

A
  • Mild = lymphadenopathy or parotitis
  • Mod = recurrent bacterial infections, candidiasis, recurrent diarrhoea
  • Severe = pneumocystis jiroveci, severe failure to thrive, encephalopathy
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215
Q

HIV

When should HIV be suspected?

A
  • Persistent lymphadenopathy
  • Hepatosplenomegaly
  • Recurrent fever
  • Parotitis
  • Serious, persistent, unusual, recurrent (SPUR) infections
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216
Q

HIV

How is HIV investigated?

A
  • <18m cannot use antibody (transplacental HIV IgG if exposed anyway)
  • 2x HIV DNA PCR blood test (double negative to exclude) for viral load
    – Within first 3m + at least 2w after completion of postnatal antiretroviral
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217
Q

HIV

How should HIV be managed?

A
  • Antiretrovirals based on viral load + CD4 count
  • Co-trimoxazole prophylaxis (PCP)
  • ?Additional vaccines but not BCG as live
  • Regular follow up, check development, psychological support
  • Safe sex education when older
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218
Q

TUBERCULOSIS

What is the pathophysiology of tuberculosis (TB)?

A
  • Lung lesion + (mediastinal) lymph nodes = Ghon or primary complex
  • Primary infection > caseating granulomas followed by period of dormancy with ?reactivation (secondary TB)
  • If immune system unable to cope it disseminates > miliary TB
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219
Q

TUBERCULOSIS
Where can miliary TB affect?
What are some risk factors for TB?
Epidemiology?

A
  • Pleura, CNS, pericardium, lymph nodes, GI/GU tract
  • Immunocompromised, overseas contact, homeless, IVDU, alcoholics
  • Majority cases are in Africa + Asia (India, China)
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220
Q

TUBERCULOSIS

What is the clinical presentation of TB?

A
  • Prolonged fever
  • Haemoptysis
  • Cough
  • Malaise
  • Anorexia
  • Weight loss
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221
Q

TUBERCULOSIS

What are some investigations for TB?

A
  • Mantoux ‘tuberculin’ test
  • Interferon gamma release assays
  • 3x samples of sputum MC&S = gold standard
  • CXR
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222
Q

TUBERCULOSIS
When diagnosing TB, what would you see on…

i) Mantoux test?
ii) interferon gamma release assays?
iii) sputum MC&S?
iv) CXR

A

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

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223
Q

TUBERCULOSIS

What are some complications of TB?

A
  • Pleural + pericardial effusions
  • Lung collapse
  • Lung consolidation
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224
Q

TUBERCULOSIS

What management of TB is necessary to prevent the spread?

A
  • BCG for high risk neonates (FHx, relatives from countries with high TB rate)
  • Contact tracing
  • Notifiable to PHE
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225
Q

TUBERCULOSIS

What is the management of TB?

A
  • Rifampicin (6m)
  • Isoniazid (6m)
  • Pyrazinamide (2m)
  • Ethambutol (2m)
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226
Q

TUBERCULOSIS
What are the side effects of…

i) rifampicin?
ii) isoniazid?
iii) pyrazinamide?
iv) ethambutol?

A

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

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227
Q

TUBERCULOSIS

What is the management of latent TB?

A
  • Isoniazid (+ vit B6) for 6m

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

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228
Q

VACCINATIONS

What is the process of vaccinations?

A
  • Induce T + B cell (antibody) immunity
  • Induce immunological memory
  • Herd immunity to protect those who haven’t been immunised
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229
Q

VACCINATIONS

How should vaccinations be given in those who are premature?

A
  • Not adjusted for prematurity, give chronologically

- Babies born <28w should receive first set in hospital due to risk of apnoea

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230
Q

VACCINATIONS

What are the two types of immunity?

A
  • Active = give part of pathogen either non-living or attenuated (live but weak)
  • Passive = give them antibodies to pathogen (natural = cross-placental transfer, artificial = treated with human IgG)
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231
Q

VACCINATIONS
What vaccines are attenuated?
What does that mean?

A
  • MMR, BCG, nasal flu, rotavirus + Men B

- Can give fever, advise normal + administer paracetamol

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232
Q

VACCINATIONS
What vaccines are given at…

i) 2m?
ii) 3m?
iii) 4m?

A

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

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233
Q 
VACCINATIONS
What vaccines are given at...
i) 1y?
ii) 3y + 4m?
iii) 12-13y?
iv) 14y?
A

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

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234
Q

VACCINATIONS

What extra vaccines may be considered?

A
  • Babies born to mothers with hepatitis B = hep B
  • Neonates at TB risk = BCG
  • Children 6m-17y with chronic health conditions get yearly flu vaccine (nasal yearly flu normally 2–10y)
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235
Q

VACCINATIONS
When in the vaccination schedule would at risk individuals get…

i) hep B vaccine?
ii) BCG?

A

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

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236
Q

COMMON BIRTHMARKS

What is a salmon patch?

A
  • ‘Stork mark’
  • Most common vascular birthmark
  • Flat red or pink patches on baby’s eyelids, neck or forehead at birth
  • Fade completely in few months
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237
Q

COMMON BIRTHMARKS

What is a cavernous haemangioma?

A
  • ‘Strawberry mark’
  • Raised marks on skin often red, F>M
  • Not present at birth, appear in first month, increase in size then shrink + disappear
  • Normally self-limiting, beware over eye + airway
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238
Q

COMMON BIRTHMARKS

What is a capillary haemangioma?

A
  • ‘Port wine stain’ = permanent, often unilateral
  • Present at birth + grows with infant, treated with laser therapy
  • Seen in Sturge-Weber syndrome (neuro Sx)
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239
Q

COMMON BIRTHMARKS
What is a naevi?
What is a slate grey naevi?
What are the differentials for slate grey naevi?

A
  • Mole, can be multiple present in Turner’s
  • ‘Mongolian blue spot’, disappear by 4, commonly lower back/buttocks, more common in non-Caucasian
  • Bruising + NAI so important to document
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240
Q

COMMON BIRTHMARKS
What are café-au-lait spots?
What is the significance?

A
  • Flat, light brown patches on skin

- >5 = neurofibromatosis

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241
Q

COMMON BIRTHMARKS
What are…

i) milia?
ii) infantile urticaria?

A

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

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242
Q

ECZEMA

What is eczema?

A
  • Chronic atopic condition caused by defects in normal continuity of skin barrier leaving tiny gaps for irritants, microbes + allergens to enter + trigger immune response
  • Leads to inflammation of the skin
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243
Q

ECZEMA

What is the clinical presentation of eczema?

A
  • Infants = dry, red, itchy + sore patches of skin over face + trunk
  • Young children = extensor surfaces
  • Older children = mostly on flexor surfaces (creases), face + neck creases
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244
Q

ECZEMA

What are some complications of eczema?

A
  • Opportunistic bacterial infection as skin breakdown leaves entry, particularly S. aureus
    – Presents as increased erythema, yellow crust, pustules
    – PO flucloxacillin or admit for IV if severe
  • Eczema herpeticum
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245
Q

ECZEMA

What is the general management of eczema?

A
  • Avoid triggers (weather, stress, wash/cleaning products)

- Maintenance = artificial skin barrier with emollients (E45), special soap substitutes

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246
Q

ECZEMA

How should a flare of eczema be managed?

A
  • Thicker emollients (hydromol or epaderm)
  • Topical steroids (start with hydrocortisone > betnovate > dermovate)
  • Wet wraps = cover affected areas in thick emollient with wrap to keep moisture overnight
  • Severe = PO ciclosporin, corticosteroids
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247
Q

ECZEMA

What are some side effects of using topical steroids?

A
  • Thinning of skin
  • Telangiectasia
  • Bruising
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248
Q

PSORIASIS
What is the pathophysiology of psoriasis?
What contributes to it?

A
  • Chronic autoimmune condition where abnormal T-cell activation > hyperproliferation of keratinocytes + so psoriatic skin lesions
  • HLA-B13, environmental triggers (alcohol, stress, group A strep)
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249
Q

PSORIASIS

What are the different types of psoriasis?

A
  • Plaque
  • Guttate ‘rain-drop’
  • Erythrodermic + pustular
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250
Q

PSORIASIS

How does plaque psoriasis present?

A
  • Well-demarcated, raised, silvery scaling lesions on extensor surfaces (elbows + knees)
  • Scalp involvement, most often at hair margin
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251
Q

PSORIASIS

How does guttate psoriasis present?

A
  • Explosive eruption of very small circular plaques on trunk, often 2w after strep throat
  • Common in paeds, resolves in 3-4m
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252
Q

PSORIASIS

How does erythrodermic + pustular present?

A
  • Most severe + life-threatening
  • Widespread inflammation of skin > extensive erythematous areas or pustules under areas of erythema
  • Systemic = pyrexia, malaise
  • Admit
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253
Q

PSORIASIS

What is the clinical presentation of psoarisis?

A
  • Koebner phenomenon = new plaques of psoriasis at sites of skin trauma
  • Residual pigmentation of skin after lesions resolve
  • Auspitz sign = small points of bleeding when plaques scraped off
  • Nail changes (pitting + onycholysis)
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254
Q

PSORIASIS

What are some associations of psoriasis?

A
  • 10–20% develop psoriatic arthritis

- Increased risk of CVD, metabolic syndrome, VTE

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255
Q

PSORIASIS

What is the management of psoriasis?

A
  • 1st line = topical steroids, topical vitamin d analogues (calcipotriol)
  • 2nd line = UV phototherapy
  • 3rd line = immunosuppression with methotrexate or biologics
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256
Q

NAPPY RASH

What are the 2 main types of nappy rash?

A
  • Irritant dermatitis = friction between skin/nappy + contact with urine + faeces
  • Candida dermatitis = due to breakdown in skin + the warm, moist environment
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257
Q

NAPPY RASH

How do you differentiate between irritant dermatitis and candida dermatitis?

A
  • Irritant = sore, red, inflamed skin but spares the skin creases
  • Candida = involves skin creases, satellite lesions (small similar lesions near edges of principle lesion) + may have oral thrush
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258
Q

NAPPY RASH

What are some risk factors for developing nappy rash?

A
  • Delayed changing of nappies
  • Diarrhoea
  • Irritant soap products + vigorous cleaning
  • PO Abx predispose to Candida
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259
Q

NAPPY RASH

What is the management of nappy rash?

A
  • Highly absorbent nappies
  • Maximise time not wearing + ensure dry before replacing nappy
  • Change nappy + clean skin ASAP
  • Water or gentle alcohol-free products to clean
  • Topical imidazole if candida
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260
Q

SEBORRHOEIC DERMATITIS

What is seborrhoeic dermatitis?

A
  • Inflammatory skin condition that affects sebaceous glands which produce oil
  • Sebaceous glands plentiful at scalp, nasolabial folds + eyebrows
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261
Q

SEBORRHOEIC DERMATITIS

What are the 3 types of seborrhoeic dermatitis?

A
  • Infantile (cradle cap) = erythematous scaly eruption, yellow, not itchy
  • Scalp = flaky, itchy skin on scalp (dandruff)
  • Face + body = widespread red, flaky, crusted itchy skin > eyelids, nasolabial folds, upper chest + body
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262
Q

SEBORRHOEIC DERMATITIS
What is the management of…

i) infantile seborrhoeic?
ii) scalp seborrhoeic?
iii) face + body seborrhoeic?

A

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

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263
Q

STEVEN-JOHNSON
What is Steven-Johnson syndrome?
What versions are there?

A
  • Disproportional immune response causes epidermal necrosis > blistering + shedding of top layer of skin
  • SJS = <10% body surface, toxic epidermal necrolysis affects >10%
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264
Q

STEVEN-JOHNSON

What are some potential causes of Steven-Johnson syndrome?

A
  • Meds = AEDs, Abx, allopurinol, NSAIDs

- Infections = herpes simplex, mycoplasma pneumonia, CMV, HIV

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265
Q

STEVEN-JOHNSON
What is the clinical presentation of Steven-Johnson syndrome?
Where does it affect?

A
  • Non-specific Sx of fever, cough, sore throat + itchy skin
  • Develop purple/red rash that spreads across skin, starts to blister
  • Few days later skin sheds leaving raw tissue underneath = PAINFUL
  • Can involve lips + mucous membranes, urinary tract, lungs
  • Eyes can become inflamed + ulcerated
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266
Q

STEVEN-JOHNSON

What are some complications of Steven-Johnson syndrome?

A
  • Secondary infection
  • Permanent skin damage due to skin involvement + scarring
  • Visual complications such as severe scarring or even blindness
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267
Q

STEVEN-JOHNSON

What is the management of Steven-Johnson syndrome

A
  • Admission as medical emergency, cease causative meds
  • Nutritional care, Abx, analgesia, ophthalmology input
  • Steroids, immunoglobulins + immunosuppressants by specialists
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268
Q

HEAD LICE
What are head lice?
How do they spread?

A
  • Pediculus capitis = parasitic insects that infest hairs + feed on blood from scalp
  • Direct head-head contact so often schools
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269
Q

HEAD LICE

What is the clinical presentation of head lice?

A
  • Infestation causes itchy scalp
  • Suboccipital lymphadenopathy
  • Nits (eggs) + lice visible with Dx on fine-toothed combing of hair
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270
Q

HEAD LICE

What is the management of headlice?

A
  • Dimeticone 4% or malathion 0.5% lotions, leave overnight then wash off (repeat 7d later to kill any head lice hatched since)
  • Special fine combs + wet combing (bug-busting) every 3–4d for 2w
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271
Q

SCABIES

What is scabies?

A
  • Infestation of mites (Sarcoptes scabiei) that burrow under skin + lay eggs
  • Can take 8w for Sx (delayed type 4 hypersensitivity reaction)
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272
Q

SCABIES
What is the clinical presentation of scabies?
Classic location?
When would you suspect it?

A
  • Very itchy burrows, papules + vesicles (may be track marks from mites)
  • Classic location between finger webs, can spread to whole body
  • Suspect if child + family itching
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273
Q

SCABIES

What are some complications of scabies?

A
  • Crusted scabies = serious infestation in immunocompromised
    – Patches of red skin > scaly plaques, may not itch
    – Rx inpatient with PO ivermectin + isolation (v contagious)
  • Scratching leads to excoriation + secondary bacterial infection
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274
Q

SCABIES

What is the management of scabies?

A
  • Very contagious so ALL close contacts Tx > school exclusion until treated
  • Wash bed linen, towels, clothes + clean furniture to destroy mites
  • 5% permethrin cream to cover whole body for 8–12h then wash it off, repeat in 1w
  • Malathion 0.5% cream second line
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275
Q

ERYTHEMA MULTIFORME
What is erythema multiforme?
What causes it?

A
  • Erythematous rash caused by hypersensitivity reaction
  • Commonly viral infections + meds
    – HSV + mycoplasma pneumoniae
    – Penicillin, NSAIDs, OCP, allopurinol, carbamazepine
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276
Q

ERYTHEMA MULTIFORME

What is the clinical presentation of erythema multiforme?

A
  • Widespread, itchy, erythematous rash
  • Target lesion = red rings within larger red rings with darkest red at centre
  • Mucosal involvement in major
  • Systemic flu-like Sx = mild fever, muscle + joint aches
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277
Q

ERYTHEMA MULTIFORME

What is the management of erythema multiforme?

A
  • Most mild + resolve spontaneously

- Severe = hospital (fluids, steroids, analgesia)

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278
Q

ERYTHEMA NODOSUM
What is erythema nodosum?
How does it present?

A
  • Inflammation of subcutaneous fat due to a hypersensitivity reaction
  • Tender red subcutaneous nodules, typically across both shins
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279
Q

ERYTHEMA NODOSUM

What are some causes of erythema nodosum?

A
  • Acute = strep throat, primary TB, meds (COCP, penicillin)

- Chronic - IBD, sarcoidosis (rare), lymphoma, leukaemia

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280
Q

ERYTHEMA NODOSUM

What is the management of erythema nodosum?

A
  • Exclude underlying = CRP/ESR, throat swab, CXR, faecal calprotectin
  • Conservative = rest + analgesia, steroids may settle inflammation
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281
Q

MOLLUSCUM
What is molluscum contagiosum?
How is it spread?

A
  • Caused by molluscum contagiosum virus (type of pox virus)

- Direct contact, sharing towels or bedsheets

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282
Q

MOLLUSCUM

What is the clinical presentation of molluscum contagiosum?

A
  • Small, flesh coloured papules that classically have a central dimple
  • Often appear in crops, with multiple lesions in local area
  • Scratching/picking can lead to spreading, scarring + infection
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283
Q

MOLLUSCUM

What is the management of molluscum contagiosum?

A
  • Often self-limiting but can take up to 18m, avoid sharing towels
  • Very extensive lesions or in problematic areas (eyelid, anogenital) can try removal
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284
Q

MOLLUSCUM

How may molluscum contagiosum be removed?

A
  • Squeezing to remove
  • Mild topical steroid for itching
  • Surgical cryotherapy (freeze with silver nitrate) but may cause scarring
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285
Q 
RINGWORM
What is ringworm?
How does it present?
What causes it?
How does it spread?
A
  • Itchy, circular erythematous + scaly well-demarcated rash (fungal)
  • Often several rings or circular shaped areas that spread outwards
  • # 1 = trichophyton
  • Spread via infected people, animals or soil
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286
Q

RINGWORM

What are the different types of ringworm?

A
  • Tinea capitis (scalp) = scaly + patchy alopecia
  • Tinea pedis (foot aka Athlete’s foot) = itchy, peeling skin between toes
  • Tinea cruris (groin)
  • Tinea corporis (body)
  • Onychomycosis (fungal nail infection) = thick, discoloured + deformed nails
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287
Q

RINGWORM

How would you diagnose ringworm?

A
  • Microscopic exam of skin scrapings for fungal hyphae
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288
Q

RINGWORM

What is the management of ringworm?

A
  • Anti-fungal cream = clotrimazole, miconazole
  • PO anti-fungals = fluconazole (body)
  • Anti-fungal shampoo = ketoconazole
  • Treat animal (dog/cat) if source
  • Do NOT use steroids as makes fungal rashes worse
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289
Q

PAEDS FLUIDS

What are 3 essential components to a safe fluid prescription?

A
  • Fluid constituents + bag size = NaCl 0.9% + dextrose 5% + KCl 10mmol (500ml)
  • Rate of administration in ml/hour
  • Signature
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290
Q

PAEDS FLUIDS

What are important things to consider prior to prescribing fluids?

A
  • Weight ([Age + 4] x 2), including weight change
  • Fluid input/output in past 24h
  • Fluid status (dehydrated)
  • Recent bloods (electrolytes)
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291
Q

PAEDS FLUIDS
What is used for maintenance fluids?
How are they calculated?

A
  • 0.9% NaCl + 5% dextrose + KCl 10mmol
  • 100ml/kg/day for first 10kg
  • 50ml/kg/day for next 10kg
  • 20ml/kg/day for every kg after 20kg
  • Divide by 24 = ml/hour
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292
Q

PAEDS FLUIDS

What are some clinical signs of dehydration?

A
  • <5% = slight thirst, dry lips
  • 5-10% = sunken eyes, reduced skin turgor, decreased urine output, dry lips + mucous membranes (no shock)
    >10% = reduced GCS, cold, mottled peripheries, anuria, sunken fontanelle, CRT >2s, hypotension (late)
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293
Q

PAEDS FLUIDS
How can you calculate % dehydration?
How do you calculate fluids to correct dehydration?

A
  • (Well weight [kg] – current weight [kg]) ÷ well weight

- % dehydration x 10 x weight (kg)

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294
Q

PAEDS FLUIDS

What is the general rule for fluid boluses?

A
  • Given in shock
  • 0.9% NaCl at 20ml/kg over <10m
  • After >3 boluses call for paeds intensive care support as risk > pulmonary oedema
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295
Q

PAEDS FLUIDS
What are exceptions to the fluid bolus in shock rule?
What is advised?

A
  • Trauma, primary cardiac pathology (heart failure), DKA (after first 20ml/kg)
  • 10ml/kg boluses to prevent pulmonary oedema
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296
Q

PAEDS FLUIDS
What fluids do neonates require?
What are their intake requirements?

A
  • Day 1 = just 10% dextrose
  • From day 2 = Na (3mmol/kg/day) + K (2mmol/kg/day)
  • Day 1 = 60ml/kg/day
  • Day 2 = 90ml/kg/day
  • Day 3 = 120ml/kg/day
  • Day 4 + beyond = 150ml/kg/day
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297
Q

PAEDIATRIC LIFE SUPPORT
What is the first step of neonatal resuscitation?
How does it differ if the baby is <28w?

A
  • Warm + dry baby ASAP by vigorous drying (may stimulate breathing)
  • Heat lamp
  • Babies <28w in plastic bag while still wet + manage under heat lamp
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298
Q

PAEDIATRIC LIFE SUPPORT
What should be calculated whilst neonatal resuscitation occurs?
What is the next stage?

A
  • APGAR at 1, 5 + 10m
  • Stimulate breathing with vigorous drying
  • Place baby’s head in neutral position to keep airway open (towel under shoulder can help)
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299
Q

PAEDIATRIC LIFE SUPPORT

If breathing stimulation fails what is the next stage of neonatal resuscitation?

A

Inflation breaths if gasping or not breathing –

  • 2 cycles of 5 inflation breaths
  • No response + HR low = 30s of ventilation breaths
  • No response, HR <60bpm = chest compressions (3:1 with ventilation breaths)
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300
Q

PAEDIATRIC LIFE SUPPORT
You come across an unconscious child.
What are the first steps you would perform?

A
  • Danger = ensure safety
  • Unresponsive = shout for help
  • Open airway = head tilt + chin lift or jaw thrust
  • Look, listen + feel for breathing (noisy gasps do not count)
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301
Q

PAEDIATRIC LIFE SUPPORT
It appears that this child is not breathing.
What is your next step and explain how this would differ depending on the child’s age?

A
  • 5 rescue breaths
  • Infants = neutral position, cover mouth + nose with whole mouth
  • > 1y = head tilt chin lift, pinch soft part of nose + seal mouths
  • Ensure chest rise/fall for effectiveness (if not ?obstruction or try jaw thrust)
  • Note any gag or cough response to actions as sign of life
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302
Q

PAEDIATRIC LIFE SUPPORT
You have performed your 5 rescue breaths but there was no coughing or response to your efforts
What should be done next?

A

Check circulation –

  • Infant = brachial or femoral
  • Child = femoral or carotid
  • If pulse felt = continue rescue breathing until child takes over
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303
Q

PAEDIATRIC LIFE SUPPORT
You do not feel a pulse.
What should you do now?

A
  • Chest compressions 15:2 rescue breaths
  • Depress sternum by one-third depth of chest
  • Rate of 100-120bpm
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304
Q

PAEDIATRIC LIFE SUPPORT

How will your CPR technique depend on the child?

A
  • Infant = tips of two fingertips or encircle with thumbs
  • > 1y = heel of 1 hand on lower sternum
  • Larger = 2 hands interlocked as for adults
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305
Q

PAEDIATRIC LIFE SUPPORT
You are at a restaurant and notice a situation at the table next to you and offer support. A child appears to be choking.
What would indicate an effective cough and how would you manage this?

A
  • Loud, responsive, able to breathe, verbal

- Encourage cough + continue to observe for deterioration or until obstruction relieved

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306
Q

PAEDIATRIC LIFE SUPPORT

What would indicate an ineffective cough and how would you manage this?

A
  • Unable to vocalise/breathe, cyanosis, silent/quiet cough
  • Conscious = 5 back blows, 5 thrusts
  • Unconscious = open airway, 5 breaths, CPR
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307
Q

PAEDIATRIC LIFE SUPPORT

How do the choking techniques differ for age?

A
  • Chest thrusts for infant, abdominal if >1y
  • Infants head down prone for back blows, supine for thrusts
  • Back blows more effective if child’s head down
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308
Q

PREMATURITY
What are some complications of prematurity for…

i) respiratory?
ii) GI?
iii) neuro?
iv) metabolic?

A

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

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309
Q

PREMATURITY
What causes feeding problems in prematures babies?
How quickly should you build up feeds and why?

A
  • Unable to suck + swallow until 33–34w so will need NG

- Build feeds up slowly to reduce risk of NEC

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310
Q

PREMATURITY
What causes…

i) hypoglycaemia?
ii) hypocalcaemia?
iii) electrolyte, fluid imbalance + hypothermia?

A

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

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311
Q

APNOEA OF PREMATURITY

What is apnoea of prematurity?

A
  • Periods where breathing stops spontaneously for >20s (or shorter periods with oxygen desaturation or bradycardia
  • Common, esp <28w
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312
Q

APNOEA OF PREMATURITY
What causes apnoea of prematurity?
What are some underlying causes?

A
  • Immature autonomic nervous system as brainstem not fully myelinated until 32–34w so pontine resp centre not fully developed
  • Hypoxia, infection, CNS pathology, GOR
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313
Q

APNOEA OF PREMATURITY

What is the management of apnoea of prematurity?

A
  • Gentle tactile stimulation when alerted by apnoea monitors
  • Resp stimulant like IV caffeine
  • May need CPAP if frequent
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314
Q

RDS

What is the pathophysiology respiratory distress syndrome (RDS)?

A
  • Inadequate surfactant > high surface tension within alveoli
  • Leads to atelectasis (lung collapse) as more difficult for alveoli + lungs to expand so there’s inadequate gas exchange > hypoxia, hypercapnia + respiratory distress
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315
Q

RDS

What are some risk factors of RDS?

A
  • Prematurity #1
  • Maternal DM
  • 2nd premature twin
  • C-section
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316
Q

RDS

What is the clinical presentation of RDS?

A
  • Tachypnoea >60bpm
  • Increasing oxygen need
  • Laboured breathing = sternal + subcostal indrawing, nasal flaring, grunting
  • Cyanosis if severe
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317
Q

RDS

What is the investigation for RDS?

A

CXR –

  • Reticular “ground-glass” changes
  • Heart borders indistinct
  • Air bronchograms
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318
Q

RDS

What are the short and long term complications of RDS?

A
  • Short = pneumothorax, infection, apnoea, necrotising enterocolitis
  • Long = bronchopulmonary dysplasia, retinopathy of prematurity
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319
Q

RDS

What emergency treatment is required before the delivery of any preterm infant?

A
  • Antenatal dexamethasone

- Increases surfactant production

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320
Q

RDS

What is the management of RDS?

A
  • Assisted ventilation by CPAP keeping lungs inflated or intubation if severe
  • Endotracheal surfactant via endotracheal tube
  • Supplementary oxygen for SpO2 91–95%
  • Breathing support gradually stepped down as baby develops
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321
Q

CHRONIC LUNG DISEASE

What is chronic lung disease of prematurity, or bronchopulmonary dysplasia?

A
  • Premature babies often <28w diagnosed when infant requires oxygen therapy after they reach 36w gestation
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322
Q

CHRONIC LUNG DISEASE
What is the pathophysiology of bronchopulmonary dysplasia?
What happens at birth?

A
  • Reduced lung volume + reduced alveolar surface area > diffusion defect
  • Suffer with RDS, need oxygen therapy or ventilation + intubation at birth
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323
Q

CHRONIC LUNG DISEASE

What is the clinical presentation of bronchopulmonary dysplasia?

A
  • Increased work of breathing (tachypnoea, nasal flaring, recessions, low SpO2)
  • Crackles + wheezes on auscultation
  • Poor feeding + weight gain
  • Increased susceptibility to infection
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324
Q

CHRONIC LUNG DISEASE

What investigations would you do for bronchopulmonary dysplasia?

A
  • CXR = widespread areas of opacification, cystic changes, fibrosis
  • Formal sleep study to assess SpO2 during sleep supports Dx + guides Mx
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325
Q

CHRONIC LUNG DISEASE

How can bronchopulmonary dysplasia be prevented?

A
  • Corticosteroids to mothers in premature labour <34w
  • CPAP rather than intubation where possible
  • Use caffeine to stimulate resp effort
  • Do not over oxygenate
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326
Q

CHRONIC LUNG DISEASE

What is the management of bronchopulmonary dysplasia?

A
  • Some babies go home with low dose oxygen, weaned over first year
  • Monthly IM palivizumab for RSV (+ bronchiolitis) protection
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327
Q

NEC. ENTEROCOLITIS

What is necrotising enterocolitis?

A
  • Disorder affecting premature neonates where part of bowel becomes necrotic
  • Associated with bacterial invasion of ischaemic bowel wall
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328
Q

NEC. ENTEROCOLITIS

What are some risk factors for necrotising enterocolitis?

A
  • Very LBW + premature
  • Formula feeds (breast milk protective)
  • RDS + assisted ventilation
  • Sepsis
  • PDA + other CHD
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329
Q

NEC. ENTEROCOLITIS

What is the clinical presentation of necrotising enterocolitis?

A
  • Bilious vomiting
  • Intolerance to feeds
  • Distended, tender abdo with absent bowel sounds
  • Bloody stools
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330
Q

NEC. ENTEROCOLITIS

What are some investigations for necrotising enterocolitis?

A
  • Blood culture (sepsis)
  • CRP
  • Capillary blood gas = metabolic acidosis
  • AXR is diagnostic
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331
Q

NEC. ENTEROCOLITIS

What would an AXR show in necrotising enterocolitis?

A
  • Dilated loops of bowel
  • Bowel wall oedema (thickened bowel walls)
  • Pneumatosis intestinalis (intramural gas)
  • Pneumoperitoneum (free gas in peritoneum = perf)
  • Football sign = air outlining falciform ligament
  • Rigler’s sign = air both inside/outside bowel wall
  • Gas in portal veins
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332
Q

NEC. ENTEROCOLITIS

What are some complications of necrotising enterocolitis?

A
  • Dead bowel > perforation + peritonitis > sepsis + shock
  • Stricture formation
  • Short bowel syndrome (malabsorption) if extensive resection required
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333
Q

NEC. ENTEROCOLITIS

What is the management of necrotising enterocolitis?

A
  • A–E if shocked, ?artificial ventilation, ?circulatory support
  • Broad spec Abx 1st, NBM with IV fluids + total parenteral nutrition (NG to drain gas + fluid from stomach + intestines)
  • Surgical emergency > laparotomy for perforation
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334
Q

JAUNDICE
What is jaundice?
What is the physiology relating to jaundice?

A
  • Abnormally high levels of bilirubin in the blood
  • RBCs contain unconjugated bilirubin, they breakdown + release it into blood, conjugated in liver + excreted via biliary system (GI tract) or urine
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335
Q

JAUNDICE

What are some risk factors for jaundice?

A
  • LBW
  • Breastfeeding
  • Prematurity
  • FHx
  • Maternal diabetes
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336
Q

JAUNDICE
Jaundice can be split into 3 aetiological time categories.
What are these?

A
  • <24h = always pathological, usually haemolytic disease
  • 24h–2w = common
  • > 2w = also bad
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337
Q

JAUNDICE

What are some causes of jaundice <24h after birth?

A
  • Haemolytic diseases #1 = rhesus or ABO incompatibility, G6PD, spherocytosis
  • Congenital infection (TORCH), sepsis
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338
Q

JAUNDICE

What are some causes of jaundice 24h–2w after birth?

A
  • Physiological + breast milk jaundice (common)
  • Infection (UTI, sepsis)
  • Haemolysis, polycythaemia, bruising
  • Crigler-Najjar syndrome (rare inherited disorder with no UGT enzyme)
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339
Q

JAUNDICE

What are some causes of jaundice >2w after birth?

A
  • Unconjugated = physiological or breast milk, UTI, hypothyroid, high GI obstruction (pyloric stenosis), Gilbert syndrome
  • Conjugated (>25umol/L) = bile duct obstruction (biliary atresia), neonatal hepatitis
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340
Q

JAUNDICE
How does jaundice present?
When would you worry about jaundice persisting?

A
  • Yellow skin/sclera (may be more visible when outside in sunlight)
  • Persistent or prolonged jaundice worrying (>2w full term, >3w preterm)
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341
Q

JAUNDICE

What is physiological jaundice?

A
  • High concentration of RBCs in neonate which are more fragile with shorter life
  • Less developed liver
  • Foetal RBCs breakdown more rapidly releasing lots of bilirubin > normal rise in bilirubin = mild jaundice from 2–7d
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342
Q

JAUNDICE
How is physiological jaundice diagnosed?
How is physiological jaundice managed?

A
  • Only when all other causes excluded

- Usually completely resolves by 10d, most babies otherwise healthy

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343
Q

JAUNDICE

What might cause breast milk jaundice?

A
  • Components of breast milk inhibiting liver to process bilirubin
  • Increased bilirubin absorption
  • Inadequate feeds > slow passage of stools
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344
Q

JAUNDICE
What is Gilbert’s syndrome?
How does it present?

A
  • AR deficiency of UDP-glucuronyltransferase = defective bilirubin conjugation
  • Unconjugated hyperbilirubinaemia (not in urine), jaundice may only be present if ill, exercising or fasting
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345
Q

JAUNDICE

What investigations would you perform in neonatal jaundice?

A
  • FBC + blood film (polycythaemia, G6PD, spherocytosis)
  • Bilirubin levels
  • Blood type testing of mother + baby for ABO/Rh incompatibility
  • Direct Coombs (antiglobulin) test for haemolysis
  • TFTs, LFTs + urine MC&S
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346
Q

JAUNDICE
When measuring bilirubin levels what are you looking for?
How would you measure bilirubin levels depending on age?

A
  • Split bilirubin = unconjugated (extra-hepatic) or conjugated (hepatobiliary)
  • > 24h old = transcutaneous bilirubin meter if high, serum to confirm within 6h
  • <24h old = serum bilirubin within 2h
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347
Q

JAUNDICE
What is the main complication of jaundice?
What is it?

A
  • Kernicterus
  • Bilirubin-induced encephalopathy caused by unconjugated bilirubin deposition in brain (basal ganglia + brainstem nuclei) as baby’s BBB are not well developed
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348
Q

JAUNDICE
What increases the risk of kernicterus?
How does it present?
What are the outcomes?

A
  • Prematurity as immature liver
  • Lethargy, poor feeding > hypertonia, seizures + coma
  • Permanent damage = dyskinetic cerebral palsy, LD + deafness
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349
Q

JAUNDICE

What is the management of jaundice?

A
  • Bilirubin Tx threshold charts, plot age of baby against total bilirubin level + treat once at threshold
  • Phototherapy (450mm wavelength blue-green band)
  • Exchange transfusion if severe
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350
Q

JAUNDICE
What is phototherapy?
What are some side effects?

A
  • Converts unconjugated bilirubin > water-soluble pigment that can be excreted in urine, cover infant’s eyes
  • Temp instability, macular rash, bronze discolouration
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351
Q

BILIARY ATRESIA

What is biliary atresia?

A
  • Congenital condition where section of bile duct either narrowed or absent
  • Results in cholestasis as bile cannot be transported from liver>bowel so increase in conjugated bilirubin
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352
Q

BILIARY ATRESIA

What is the clinical presentation of biliary atresia?

A
  • Prolonged jaundice >2w
  • Pale stools + dark urine (obstructive pattern)
  • Failure to thrive
  • Hepatosplenomegaly
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353
Q

BILIARY ATRESIA
What are the investigations for biliary atresia?
Genetic association?

A
  • Serum split bilirubin = conjugated elevated
  • USS abdo gold standard for Dx, laparotomy confirms
  • Associated with CFC1 gene mutations
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354
Q

BILIARY ATRESIA

What is the management of biliary atresia?

A
  • Kasai portoenterostomy (attach section of small intestine to opening of liver where bile duct attaches)
  • Some will need full liver transplant
  • Success decreases with age so early Dx crucial
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355
Q 
CHOLEDOCHAL CYST
What is a choledochal cyst?
How may it present? Investigation?
What are the complications?
What is the management?
A
  • Cystic dilatations of extrahepatic biliary system
  • Cholestatic jaundice, Dx with USS or radionucleotide scanning
  • Cholangitis + small risk of malignancy
  • Surgical cyst excision
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356
Q

NEONATAL HEPATITIS
What is neonatal hepatitis syndrome?
How does it present?

A
  • Prolonged neonatal jaundice + hepatic inflammation

- IUGR, hepatosplenomegaly at birth, failure to thrive + dark urine

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357
Q

NEONATAL HEPATITIS

What are some investigations for neonatal hepatitis syndrome?

A
  • Deranged LFTs with raised unconjugated + conjugated bilirubin
  • Liver biopsy = multinucleated giant cells + Rosette formation
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358
Q

NEONATAL HEPATITIS

What are 4 main presentations of neonatal hepatitis?

A
  • Congenital infection
  • Alpha-1-antitrypsin (A1AT) deficiency
  • Galactosaemia
  • Wilson’s disease
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359
Q

NEONATAL HEPATITIS
What is A1AT deficiency?
Cause?
Presentation?

A
  • Deficiency of protease A1AT which inhibits neutrophil elastase + protects tissues
  • AR on chromosome 14
  • Prolonged neonatal jaundice (cholestasis), worse on breast feeding, can have (prolonged) bleeding due to vitamin K deficiency, COPD
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360
Q

NEONATAL HEPATITIS
How do you diagnose A1AT deficiency?
What is the management?

A
  • Serum A1AT concentration
  • ?Transplantation
  • Never smoke
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361
Q

NEONATAL HEPATITIS
What is galactosaemia?
How does it present?

A
  • Deficiency of galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism (lactose breaks down into galactose)
  • Poor feeding, vomiting, jaundice + hepatomegaly when fed milk
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362
Q

NEONATAL HEPATITIS

What are the complications of galactosaemia?

A
  • Rapidly fatal course with shock, DIC + haemorrhage due to gram -ve sepsis
  • Liver failure, cataracts + Developmental delay if untreated
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363
Q

NEONATAL HEPATITIS

What is the management of galactosaemia?

A
  • Stop cow’s milk, breastfeeding C/I
  • Dairy-free diet
  • IV fluids
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364
Q

NEONATAL HEPATITIS
What is Wilson’s disease?
Genetics?

A
  • Reduced synthesis of caeruloplasmin (normally binds to copper + allows it to be excreted with bile)
  • AR on chromosome 13
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365
Q

NEONATAL HEPATITIS

How does Wilson’s disease present?

A

Sx of copper accumulation

  • Eyes (Kayser-Fleischer rings)
  • Brain (Parkinsonism + psychosis)
  • Kidneys (vit D resistant rickets)
  • Liver (jaundice)
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366
Q

NEONATAL HEPATITIS

What is the management of Wilson’s disease?

A
  • 24h urine copper assay (high), serum caeruloplasmin (low)

- Penicillamine for copper chelation

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367
Q

HIE

What is hypoxic ischaemic encephalopathy (HIE)?

A
  • In perinatal asphyxia, gas exchange, either placental or pulmonary is compromised or ceases resulting in cardiorespiratory depression
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368
Q

HIE

What happens as a result of cardiorespiratory depression?

A
  • Hypoxia, hypercarbia + metabolic acidosis

- Compromised cardiac output reduces tissue perfusion > hypoxic ischaemic injury to brain

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369
Q

HIE

What are the causes of HIE?

A
  • Anything leading to asphyxia = maternal shock, intrapartum haemorrhage, prolapsed or nuchal cord, placental abruption
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370
Q

HIE
What is used to stage the severity of HIE?
What are the stages?

A

Sarnat staging –

  • Mild = poor feeding, generally irritable + hyperalert, resolves in 24h
  • Moderate = poor feeding, lethargic, hypotonic, seizures, can take weeks to resolve
  • Severe = reduced GCS, apnoeas, flaccid + reduced/absent reflexes, half die
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371
Q

HIE
What is the main complication of HIE?
How common is it?

A
  • Permanent brain damage > cerebral palsy

- Moderate = 40%, severe = 90%

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372
Q

HIE

What is the acute management of HIE?

A

MDT resus –

  • Dry baby, APGAR, resp support
  • Treat seizures, EEG
  • Treat hypotension by volume + inotropes
  • Monitor + treat electrolytes
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373
Q

HIE

What is the main therapeutic management of HIE?

A
  • Therapeutic hypothermia to protect brain from hypoxic injury
  • Cooled to PR temp 33–34 for 72h to reduce brain damage
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374
Q

IV HAEMORRHAGE
What is an intraventricular haemorrhage?
When is it more common?

A
  • Haemorrhage in the ventricular system

- Following perinatal asphyxia + in infants with severe RDS

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375
Q

IV HAEMORRHAGE
Where do intraventricular haemorrhages occur?
What is a complication?

A
  • Typically germinal matrix above caudate nucleus which contains fragile network of blood vessels
  • Large haemorrhages may impair drainage + reabsorption of CSF > hydrocephalus
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376
Q

IV HAEMORRHAGE

What is the management of intraventricular haemorrhage?

A
  • Cranial USS
  • Sx relief with removal of CSF by LP or ventricular tap
  • Ventriculoperitoneal shunt may be needed for hydrocephalus
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377
Q

HYPOGLYCAEMIA
What is neonatal hypoglycaemia?
What are some risk factors?

A
  • No agreed definition but <2.6mmol/L often used
  • Preterm + IUGR = lack of glycogen stores
  • Maternal DM = infantile hyperinsulinaemia
  • LGA, polycythaemia or ill
  • Transient hypoglycaemia common in first hours after birth
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378
Q

HYPOGLYCAEMIA

How does neonatal hypoglycaemia present?

A
  • Jitteriness, irritability, apnoea
  • Lethargy, drowsiness + Seizures
  • Long-term may cause permanent neuro disability
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379
Q

HYPOGLYCAEMIA

What is the management of neonatal hypoglycaemia?

A
  • Regular bedside BM
  • Prevent by early + frequent feeding
  • IVI 10% dextrose (central venous catheter if higher concentration of dextrose to prevent skin necrosis) to maintain glucose >2.6mmol/L
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380
Q

RETINOPATHY
What is the pathophysiology of retinopathy of prematurity?
What may this lead to?

A
  • Affects developing blood vessels at junction of the vascular + non-vascularised retina
  • Retinal blood vessel formation is stimulated by hypoxia so hyperoxic insult can prevent this
  • Retina responds with vascular proliferation which may progress to retinal detachment, fibrosis + blindness
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381
Q

RETINOPATHY
What are some risk factors for retinopathy of prematurity?
What is the clinical presentation?

A
  • Use of high oxygen conc, very LBW (<1.5kg), premature babies <32w
  • Plus disease describes other findings like tortuous vessels + hazy vitreous humour
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382
Q

RETINOPATHY

What is the management of retinopathy of prematurity?

A
  • Regular eye screening by ophthalmologist for susceptible preterm infants (<1.5kg or <32w), must visualise all retinal areas
  • Transpupillary laser photocoagulation to halt + reverse neovascularisation
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383
Q

CDH
What is congenital diaphragmatic hernia?
Most common type?

A
  • Failure of pleuroperitoneal cavity to close completely

- Most common is Bochdalek hernia (L sided posterior-lateral)

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384
Q

CDH

What is the clinical presentation of congenital diaphragmatic hernia?

A
  • Resp distress, lung hypoplasia (prevents lungs to develop throughout pregnancy) + pulmonary HTN
  • Heart sounds louder on R, poor air entry on L
  • Tinkling bowel sounds
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385
Q

CDH

What is the management of congenital diaphragmatic hernia?

A
  • Often Dx on antenatal USS, CXR = bowel in lungs

- NG feeding, intubation + ventilation prior to surgery

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386
Q

NEONATAL SEPSIS

What are some risk factors of neonatal sepsis?

A
  • Vaginal GBS colonisation
  • GBS sepsis in previous baby
  • Maternal sepsis
  • Fever >38
  • Chorioamnionitis
  • PPROM
  • Preterm babies
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387
Q

NEONATAL SEPSIS

What are some causes of neonatal sepsis?

A
  • GBS (strep. agalactiae) from genital tract #1 (mostly pneumonia, also meningitis)
  • E. Coli, Klebsiella, S. aureus
  • Listeria monocytogenes (unpasteurised milk, soft cheese, undercooked poultry)
    – Can also cause spontaneous abortion + preterm delivery
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388
Q

NEONATAL SEPSIS
What is the likely source of infection if it develops…

i) <48h?
ii) >48h?

A

i) Birth canal

ii) Environment (catheters, tracheal tubes, bloods) = mostly strep epidermidis

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389
Q

NEONATAL SEPSIS

What is the clinical presentation of neonatal sepsis?

A
  • Fever or hypothermia
  • Poor feeding + vomiting, hypoglycaemia
  • Apnoea, resp distress (grunting, nasal flaring) + tachycardia
  • Seizures, jaundice
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390
Q

NEONATAL SEPSIS

What are the investigations for neonatal sepsis?

A

Septic screen –

  • FBC, CRP, blood cultures
  • Blood gas (metabolic acidosis worrying)
  • Urine MC&S
  • CXR
  • LP for CSF sample
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391
Q

NEONATAL SEPSIS

How can neonatal sepsis be prevented?

A
  • High risk GBS women are screened or offered intrapartum Abx
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392
Q

NEONATAL SEPSIS

What is the management of neonatal sepsis?

A
  • Treatment before culture results
  • IV benzylpenicillin (gram +ve) + gentamycin (gram -ve) = 1st line
  • Consider 3rd gen cephalosporin (IV cefotaxime) if lower risk
  • Maintain oxygenation, normal fluid + electrolytes, prevent/manage metabolic acidosis + hypoglycaemia
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393
Q

NEONATAL SEPSIS

How can response to treatment be monitored in neonatal sepsis?

A
  • Check CRP 24h after presentation, re-check at 5d if still on treatment
  • At 48h if cultures negative + CRP <10mg/L = stop Abx
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394
Q

TORCH

What are the TORCH conditions?

A
  • Main congenital conditions

- Toxoplasmosis, Other (HIV), Rubella, CMV, Herpes + Syphilis

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395
Q

TORCH

What are the characteristic features of toxoplasmosis?

A
  • Cerebral calcification, chorioretinitis + hydrocephalus
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396
Q

TORCH
What is CMV?
How is it contracted?
How is it managed?

A
  • Most common congenital infection
  • Herpes simplex virus via personal contact
  • No therapy so no screening
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397
Q

TORCH

What is the clinical presentation of CMV?

A
  • 90% normal at birth
  • 5% = hepatosplenomegaly, petechiae at birth, growth issues, neurodevelopmental disabilities (cerebral palsy, epilepsy, microcephaly)
  • 5% = problems later in life, mainly sensorineural hearing loss
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398
Q

TORCH
How does herpes simplex virus present?
How is it managed?

A
  • Herpetic lesions on skin or eye, encephalitis or disseminated disease
  • Aciclovir, high mortality in disseminated
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399
Q

TORCH
How does syphilis present?
How is it managed?

A
  • Rash on soles of feet + hands
  • Hutchinson’s triad = keratitis, deafness, small + pointed teeth
  • If fully treated ≥1m before delivery = no treatment
  • Any doubts = benzylpenicillin
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400
Q

MECONIUM ASPIRATION

What is meconium aspiration?

A
  • Meconium may be passed due to foetal hypoxia + at birth these infants may inhale it
  • Lung irritant resulting in mechanical obstruction + chemical pneumonitis + predisposing to infection
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401
Q

MECONIUM ASPIRATION

What are some risk factors for meconium aspiration?

A
  • Post-term deliveries at 42w
  • Maternal HTN or pre-eclampsia
  • Smoking or substance abuse
  • Chorioamnionitis
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402
Q

MECONIUM ASPIRATION

What is the clinical presentation of meconium aspiration?

A
  • Presence of meconium or dark green staining of amniotic fluid
  • Respiratory distress
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403
Q

MECONIUM ASPIRATION

What investigation would you do in meconium aspiration?

A
  • CXR = hyperinflation, accompanied by patches of collapse + consolidation
  • High incidence of air leak > pneumothorax
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404
Q

MECONIUM ASPIRATION
What is a complication of meconium aspiration?
What are some other risk factors for that complication?

A
  • Persistent pulmonary HTN of the newborn due to high pulmonary vascular resistance
  • RDS, sepsis, congenital diaphragmatic hernia, maternal SSRI use, maternal NSAID use in 3rd trimester (early closure of DA)
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405
Q

MECONIUM ASPIRATION

What is the management of meconium aspiration?

A
  • Artificial (positive pressure) ventilation with oxygenation
  • Suction if no breathing
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406
Q

NIPE EXAMINATION

What is the purpose of the NIPE examination?

A
  • Detect congenital abnormalities that were not identified at birth
  • Check for potential problems that could arise due to FHx
  • Provide opportunity for parents to ask questions about baby
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407
Q

NIPE EXAMINATION
What is the process of the NIPE exam?
What are the components?

A
  • First within 72h of birth + second by GP at 6–8w

- General observation, eyes, heart, hips + genitalia

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408
Q

NIPE EXAMINATION

What is looked for in the general observation?

A
  • Weight, height, head circumference (HC = measure of brain size)
  • Palpate sutures + fontanelle
  • Dysmorphic features
  • Reflexes (grasp, sucking, rooting, moro)
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409
Q

NIPE EXAMINATION

What is looked for in the eyes examination?

A
  • Red reflex (congenital cataracts, retinoblastoma)

- Movement (visual loss)

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410
Q

NIPE EXAMINATION

What is looked for in the cardiac examination?

A
  • HR 110–160bpm
  • Murmur (CHD)
  • Femoral pulse (coarctation)
  • Central cyanosis (cyanotic CHD)
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411
Q

NIPE EXAMINATION

What is looked for in the hip examination

A
  • Barlow + Ortolani test (DDH)
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412
Q

NIPE EXAMINATION

What is looked for in the genitalia examination?

A
  • Testes (cryptorchidism)
  • Ambiguous genitalia (CAH)
  • Genitalia (hypospadias)
  • Imperforate anus (bladder/vaginal fistula)
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413
Q

CLEFT LIP AND PALATE
What is a cleft lip?
What causes it?

A
  • Split or open section in upper lip, can go up to the nose

- Failure of fusion of the frontonasal + maxillary processes

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414
Q

CLEFT LIP AND PALATE
What is a cleft palate?
What causes it?

A
  • Defect in hard or soft palate at roof of mouth which leaves an opening between the mouth + nasal cavity
  • Failure of the palatine processes + nasal septum to fuse
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415
Q

CLEFT LIP AND PALATE
What are some causes of cleft lip + palate?
What are some complications?

A
  • Chromosomal disorder or maternal AED therapy

- Issues feeding, milk aspiration, speech delay + conductive hearing loss, recurrent otitis media (cleft palate)

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416
Q

CLEFT LIP AND PALATE

What is the management of cleft lip + palate?

A
  • MDT = plastic + ENT surgeons, paeds, orthodontist, SALT
  • Cleft lip repair ≤3m
  • Cleft palate repair 6-12m
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417
Q

OESOPHAGEAL ATRESIA
What is oesophageal atresia?
What is it associated with?

A
  • Upper + lower oesophagus in 2 sections + does not connect

- Tracheo-oesophageal fistula + polyhydramnios

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418
Q

OESOPHAGEAL ATRESIA

What is the clinical presentation of oesophageal atresia?

A
  • Persistent salivation + drooling from mouth after birth
  • May cough + choke when fed + have cyanotic aspiration
  • Some have other congenital malformations (VACTERL association)
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419
Q

OESOPHAGEAL ATRESIA

What is the management of oesophageal atresia?

A
  • Wide calibre feeding tube passed + checked by XR if reaches stomach
  • Continuous suction applied to tube passed into oesophageal pouch to reduce aspiration of saliva + secretions > neonatal surgical unit
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420
Q 
DUODENAL ATRESIA
What is duodenal atresia?
What can confirm it?
What is it associated with?
What is the management?
A
  • Congenital absence or complete closure of duodenum > intestinal obstruction
  • AXR shows ‘double bubble’ from distension of stomach + duodenal cap
  • Third have Down’s
  • Correct fluid + electrolyte depletion > surgical Mx
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421
Q

GASTROSCHISIS

What is gastroschisis?

A
  • Bowel protrudes through congenital defect in anterior abdominal wall, adjacent to umbilicus but with no covering sac
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422
Q

GASTROSCHISIS
What is gastroschisis associated with?
What is an investigation for gastroschisis?

A
  • Socioeconomic deprivation (smoking, mum <20y)

- USS shows free loops of bowel in amniotic fluid antenatally

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423
Q

GASTROSCHISIS

What is a complication of gastroschisis?

A

Higher risk of dehydration + protein loss –

  • Wrap infants in several layers of clingfilm to minimise fluid + heat loss
  • NG tube passed + aspirated frequently
  • IVI dextrose + colloid support for protein loss
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424
Q

GASTROSCHISIS

What is the management of gastroschisis?

A
  • May attempt vaginal delivery

- Urgent repair (theatre within 4h)

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425
Q

EXOMPHALOS

What is exomphalos, or omphalocele?

A
  • Abdominal contents protrude through umbilical ring, covered with a transparent sac formed by the amniotic membrane + peritoneum
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426
Q

EXOMPHALOS
What is exomphalos associated with?
What is the management?

A
  • Other major congenital abnormalities, antenatal Dx

- C-section at 37w, staged repair as primary closure difficult

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427
Q

NEONATAL CONJUNCTIVITIS
What is neonatal conjunctivitis?
What is the management?

A
  • Common starting day 3–4
  • Usually just cleaning with water or saline
  • More troublesome discharge or redness of eye may be staph/strep so topical Abx eye ointment like neomycin
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428
Q

NEONATAL CONJUNCTIVITIS
In terms of neonatal conjunctivitis, how would…

i) gonococcal infection
ii) chlamydia infection

present and what is the management of both?

A

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

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429
Q

SIDS
What is sudden infant death syndrome (SIDS)?
Epidemiology?

A
  • Sudden + unexpected death of infant with no adequate cause

- Most common cause of death in 1st year of life, peaks 2–4m

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430
Q

SIDS

What are some major risk factors for SIDS?

A
  • Baby sleeping prone
  • Parental smoking (during pregnancy or in same room)
  • LBW + prematurity
  • Sharing a bed
  • Hyperthermia (over wrapping) or head covering (blanket moving)
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431
Q

SIDS

What are some other risk factors for SIDS?

A
  • M>F
  • Low socioeconomic status
  • Infant pillow use
  • Maternal drug use
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432
Q

SIDS

What are some protective factors from SIDS?

A
  • Breastfeeding
  • Room (NOT bed) sharing
  • Use of dummies
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433
Q

SIDS

What is the management of SIDS?

A
  • Following cot death screen siblings for sepsis + inborn errors of metabolism
  • Infants sleep on backs, ‘feet-to-foot’ position
  • Do not smoke near them
  • Bedroom for first 6m
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434
Q

TRANSIENT TACHYPNOEA
What is transient tachypnoea of the newborn?
What is it caused by?

A
  • Commonest cause of resp distress in term infants
  • Delay in resorption of lung fluid, commoner after c-section ?fluid not ‘squeezed out’ during passage through birth canal
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435
Q

TRANSIENT TACHYPNOEA

What is the clinical presentation?

A
  • Tachypnoea after birth which resolves usually 48h
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436
Q

TRANSIENT TACHYPNOEA

What is the management of transient tachypnoea of the newborn?

A
  • CXR may show hyperinflation + fluid in horizontal fissure
  • Dx after other causes excluded
  • Supplementary oxygen may be needed to maintain SpO2
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437
Q

FOETAL CIRCULATION
What 3 foetal shunts are there?
What are they when they are closed?

A
  • Ductus venosus = connects umbilical vein + IVC so blood bypasses liver (ligamentum arteriosus)
  • Foramen ovale = connects RA+LA so bypass RV + pulmonary circulation (fossa ovalis)
  • Ductus arteriosus = connects pulm. artery + aorta so blood can bypass pulm. circulation (ligamentum arteriosus)
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438
Q

FOETAL CIRCULATION

What is the flow of foetal blood?

A
  • Oxygenated + nutrients at placenta for rest of body (umbilical vein) + disposes waste like CO2 + lactate (umbilical artery)
  • Umbilical vein > ductus venosus > RA > foramen ovale > LA > LV > rest of body > umbilical artery
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439
Q

FOETAL CIRCULATION

What are the pressures like within the foetal heart?

A
  • LA pressure low as relatively little blood returns from lungs
  • RA>LA pressure as RA receives all systemic venous return + blood from placenta
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440
Q

FOETAL CIRCULATION

What happens in the first few breaths in the foetus?

A
  • Resistance to pulmonary blood flow falls as alveoli expand + volume of blood flowing through lungs massively increases so increased LA pressure.
  • Volume of blood returning to RA falls as placenta removed
  • LA > RAp = foramen ovale closes
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441
Q

FOETAL CIRCULATION

What happens over the next few hours/days?

A
  • Ductus arteriosus will close (issue if duct-dependent CHD)
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442
Q

FOETAL CIRCULATION
What are physiological (innocent flow) murmurs?
When are they seen?

A 
4S's –
- Soft blowing murmur
- Symptomless
- left Sternal edge
- Systolic murmur only
Common during febrile illness or anaemia as CO increases
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443
Q

FOETAL CIRCULATION
What other features of innocent murmurs are there?
When would you investigate?

A
  • Normal heart sounds (none added), no parasternal thrill or radiation, may vary with posture
  • Louder than 2/6, diastolic, louder on standing
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444
Q

FOETAL CIRCULATION

What are the 5 main types of congenital heart lesions?

A
  • L>R shunt (breathless) = ASD, VSD, PDA
  • R>L shunt (cyanotic) = ToF, TGA
  • Common mixing (breathless + blue) = complete AVSD, complex CHD (tricuspid atresia)
  • Outflow obstruction in well child = AS, PS
  • Outflow obstruction in sick neonate = coarctation, HLHS
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445
Q

FOETAL CIRCULATION

What is Eisenmenger’s syndrome?

A
  • L>R shunt as systemic pressure is higher than pulmonary pressure
  • Over time, pulmonary pressure may increase beyond the systemic pressure
  • This is due to pulmonary HTN > increasing RH pressures + so RVH leading to shunt reversal (R>L) + so cyanosis
  • May have plethoric complexion due to compensatory polycythaemia
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446
Q

FOETAL CIRCULATION

What are the main cyanotic heart diseases?

A 
4Ts –
- ToF
- TGA
- Tricuspid atresia
- Truncus arteriosus
(Complete AVSD too)
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447
Q

FOETAL CIRCULATION
How can you determine if cyanosis is cardiac or respiratory?
What is a complication of SLE?

A
  • Hyperoxic test, better = respiratory, still cyanosed = cardiac
  • Complete heart block
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448
Q

ATRIAL SEPTAL DEFECT
What is atrial septal defect (ASD)?
What happens?
What is it common in?

A
  • Hole in septum connecting atria as failure of septal tissue to form
  • L>R shunt as LAp>RAp so increased flow into R heart + lungs
  • Trisomy 21, foetal alcohol syndrome
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449
Q

ATRIAL SEPTAL DEFECT

What are the 3 main types of ASD?

A
  • Ostium primum (group with AVSD)
  • Ostium secundum (80%)
  • Partial AVSD
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450
Q

ATRIAL SEPTAL DEFECT

What is a partial AVSD?

A
  • Inter-atrial communication between bottom end of atrial septum + AV valves
  • Abnormal AV valves with a left AV valve which has 3 leaflets + tends to leak
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451
Q

ATRIAL SEPTAL DEFECT

What is the clinical presentation of ASD?

A
  • Dyspnoea, difficulty feeding, failure to thrive, recurrent chest infections
  • Arrhythmia in adulthood (may need VTE prophylaxis)
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452
Q

ATRIAL SEPTAL DEFECT

What would you find on clinical examination in ASD?

A
  • Fixed + widely split S2 (split does not change with inspiration/expiration)
  • ES murmur at upper L sternal edge (pulmonary) as increased flow across pulmonary valve by L>R shunt
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453
Q

ATRIAL SEPTAL DEFECT

What are some investigations for ASD?

A
  • Often antenatal Dx
  • CXR = cardiomegaly, enlarged pulmonary arteries + increased pulmonary vascular markings
  • Primum ECG = RBBB + LAD
  • Secundum ASD = RBBB + RAD
  • ECHO is diagnostic
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454
Q

ATRIAL SEPTAL DEFECT

What are the complications of ASD?

A
  • Eisenmenger syndrome = shunt switch = cyanotic

- Stroke risk in context of VTE (can be from AF or atrial flutter)

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455
Q

ATRIAL SEPTAL DEFECT

What is the management of ASD?

A
  • Small + asymptomatic = watchful waiting

- Large = transvenous catheter closure via femoral vein or open heart surgery

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456
Q

VSD

What is a ventricular septal defect (VSD)?

A
  • Hole in the septum between the 2 ventricles, most common heart defect
  • L>R shunt as LVp>RVp so increased flow to R heart + lungs
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457
Q

VSD

What are some conditions associated to VSD?

A
  • Trisomy 13, 18 + 21
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458
Q

VSD

What is the clinical presentation of VSD?

A
  • Small = ?asymptomatic
  • Large = heart failure with dyspnoea, failure to thrive, recurrent infections
  • Harsh pansystolic murmur
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459
Q

VSD

What are the features of the pansystolic murmur in VSD?

A
  • Left lower sternal edge
  • Loud murmur = smaller VSD (larger = quieter)
  • May have systolic thrill on palpation
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460
Q

VSD

What are the investigations in VSD?

A
  • Often antenatal Dx or murmur on NIPE
  • CXR + ECG often normal in small VSDs
  • CXR in large = cardiomegaly, increased pulmonary vascular markings ± pulmonary oedema
  • ECHO is diagnostic
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461
Q

VSD

What are some complications of VSD?

A
  • Increased risk of infective endocarditis > Abx prophylaxis during surgery
  • AR, Eisenmenger’s syndrome + right heart failure
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462
Q

VSD

What is the management of VSD?

A
  • Small VSDs with no signs of pulmonary HTN or heart failure may watch + wait as may close spontaneously
  • Transvenous catheter closure via femoral vein or open-heart surgery
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463
Q

HEART FAILURE
What are the causes of heart failure in…

i) neonates?
ii) infants?
iii) older children?

A

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

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464
Q

HEART FAILURE

What is the clinical presentation of left heart failure?

A
  • SOB (esp. on feeding or exertion), sweating, recurrent chest infections
  • Poor weight gain, gallop rhythm
  • Cardiomegaly, cool peripheries
  • As a rule = increased HR, RR + creps
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465
Q

HEART FAILURE
What is the clinical presentation of right heart failure?
What are the causes?

A
  • Peripheral oedema
  • Hepatomegaly
  • TR, PS, large VSD (anything making fluid overload backwards > IVC)
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466
Q

HEART FAILURE

What is the management of heart failure?

A
  • Furosemide (loop diuretic)
  • Captopril (ACEi)
  • Increased calories
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467
Q

COMPLETE AVSD

What is a complete atrioventricular septal defect (AVSD)?

A
  • Defect in middle of heart with single 5-leaflet valve between atria + ventricles which stretches across entire AV junction + tends to leak
  • Large defect means pulmonary HTN too
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468
Q

COMPLETE AVSD
What condition is complete AVSD commonly seen in?
How does it present?

A
  • Down’s syndrome (need routine ECHO)

- Cyanosis at birth with heart failure 2–3w of life, no murmur

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469
Q

COMPLETE AVSD

What is the management of complete AVSD?

A
  • May have antenatal Dx or on routine ECHO in Down’s baby

- Medical Tx for heart failure + surgical repair at 3-6m

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470
Q

PDA
What is a patent ductus arteriosus (PDA)?
What is a consequence?

A
  • DA normally stops functioning within 1–3d
  • If patent, pressure in aorta higher than in pulmonary vessels so blood flows L>R
  • Can lead to Eisenmenger’s syndrome
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471
Q

PDA
What can happen due to increased blood flowing through pulmonary vessels?
What are some risk factors of PDA?

A
  • More blood returning to left side of heart so can lead to LVH
  • Prematurity is key + association with maternal rubella
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472
Q

PDA

What are the symptoms of PDA?

A
  • Small may be asymptomatic or present in adulthood with heart failure
  • May present with SOB, difficulty feeding, failure to thrive + LRTIs
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473
Q

PDA

What are the signs of PDA?

A
  • Collapsing or bounding pulse as increased pulse pressure

- Continuous ‘machinery’ murmur heard loudest beneath the L clavicle

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474
Q

PDA

What are some investigations for PDA?

A
  • ECHO to confirm Dx
  • Doppler flow studies during ECHO can assess size + characteristics
  • Can also assess effects of PDA on heart (LVH/RVH)
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475
Q

PDA

What is the management of PDA?

A
  • Monitor until 1y with ECHOs (treat early if Sx or heart failure)
  • NSAIDs (indomethacin) facilitates closure of PDA as inhibits prostaglandins
  • After 1y unlikely to resolve so trans-catheter or surgical closure to reduce IE risk
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476
Q

TOF

What abnormalities are described in tetralogy of fallot (TOF)?

A
  • Large VSD
  • Pulmonary stenosis (RV outflow obstruction)
  • RVH
  • Overriding aorta
    (If ASD present too = pentad of Fallot)
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477
Q

TOF

What is the pathophysiology of TOF?

A
  • Pulmonary stenosis leads to RVp>LVp so R>L shunt and cyanosis
  • Cyanosis presents later than in TGA, about 1–2m
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478
Q

TOF
What is TOF associated with?
What are some risk factors?

A
  • Trisomy 21 + 22q deletions

- Rubella, maternal age >40, alcohol in pregnancy, maternal DM

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479
Q

TOF

What is the clinical presentation of TOF?

A
  • Severe cyanosis with exertional hyper-cyanotic ‘tet’ spells
  • Loud harsh ES murmur at left sternal edge (from PS)
  • Digital clubbing
  • Squatting on exercise = increased peripheral vascular resistance + decreased degree of R>L shunt so improved Sx
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480
Q

TOF

What happens during a hyper-cyanotic tet spell?

A
  • Rapid increase in cyanosis, irritability + dyspnoea

- If severe can lead to reduced GCS, seizures + potential death

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481
Q

TOF

What are the investigations for TOF?

A
  • May be Dx antenatally or murmur on NIPE
  • CXR = ‘boot shaped’ heart due to RVH
  • ECHO ± cardiac catheterisation to show anatomy + degree of stenosis
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482
Q

TOF

What is the management of a hyper-cyanotic tet spell in TOF?

A
  • Morphine for sedation + pain relief
  • IV propranolol as peripheral vasoconstrictor
  • IV fluids, sodium bicarbonate if acidotic
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483
Q

TOF

What is the management of TOF?

A
  • Neonates = prostaglandin infusion to maintain ductus arteriosus to allow blood to flow from aorta > pulmonary arteries
  • Early surgical repair with closure of VSD + correction of pulmonary stenosis at 6m
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484
Q

TGA
What is transposition of the great vessels (TGA)?
What is it associated with?

A
  • Aorta is connected to the RV, pulmonary artery is connected to LV meaning deoxygenated blood is pumped around body = cyanosis
  • Duct dependent lesion, associated with PDA, ASD + VSD
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485
Q

TGA

What is the clinical presentation of TGA?

A
  • Cyanosis at birth/day 1–2 as duct closes > life-threatening
  • Less severe if PDA, ASD or VSD to allow mixing
  • No murmur but S2 usually loud + singular
  • Prominent RV impulse on palpation
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486
Q

TGA

What are the investigations for TGA?

A
  • May be Dx antenatally, pre (R arm) + post duct (foot) sats
  • CXR may show narrow mediastinum with ‘egg on its side’ appearance
  • ECHO confirms Dx
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487
Q

TGA

What is the management of TGA?

A
  • Neonates = prostaglandin E1 infusion to maintain ductus arteriosus
  • Balloon atrial septostomy to create hole between 2 atria for mixing
  • Arterial switch procedure = open heart surgery, definitive Mx
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488
Q

TRICUSPID ATRESIA

What is tricuspid atresia?

A
  • Only LV is effective, RV is small, non-functional + complete absence of tricuspid valve
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489
Q

TRICUSPID ATRESIA
How does tricuspid atresia present?
How is it managed?

A
  • ‘Common mixing’ of systemic + pulmonary venous return in LA = cyanosis + dyspnoea
  • Shunt between subclavian + pulmonary artery with surgery later
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490
Q

COARCTATION OF AORTA

What is coarctation of the aorta?

A
  • Arterial duct tissue encircling the aorta at the level of the ductus arteriosus which causes constriction + narrowing when the duct closes
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491
Q

COARCTATION OF AORTA
What is a consequence of coarctation of aorta?
What is associated with?

A
  • Collateral circulation forms to increase flow to the lower part of the body leading to the intercostal arteries becoming dilated + tortuous
  • Turner’s syndrome
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492
Q

COARCTATION OF AORTA
What is the clinical presentation of coarctation of aorta?
How may it present if severe?

A
  • Weak femoral pulses + radiofemoral delay
  • Systolic murmur between scapulas or below L clavicle
  • Heart failure, tachypnoea, poor feeding, floppy
  • LV heave (LVH)
  • Acute circulatory collapse at 2d as duct closes (duct dependent)
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493
Q

COARCTATION OF AORTA

What are the investigations for coarctation of the aorta?

A
  • 4 limb BP (R arm > L arm), pre + post-duct sats

- CXR may show cardiomegaly + rib notching (often teens + adults)

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494
Q

COARCTATION OF AORTA

What is the management of coarctation of aorta?

A
  • ABCDE if collapse
  • Prostaglandin E1 infusion if critical
  • Stent insertion or surgical repair
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495
Q

HYPOPLASTIC LEFT HEART

What is hypoplastic left heart syndrome (HLHS)?

A
  • Under development of entire left side of heart
  • Mitral valve is small or atretic, LV is diminutive + usually aortic valve atresia
  • Ascending aorta very small + almost invariably coarctation of aorta
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496
Q

HYPOPLASTIC LEFT HEART

What is the clinical presentation of HLHS?

A
  • Sickest neonates with duct-dependent circulation
  • No L side flow so ductal constriction > profound acidosis + rapid CV collapse
  • Weakness or absence of all peripheral pulses
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497
Q

HYPOPLASTIC LEFT HEART

What is the management of HLHS?

A
  • ABCDE
  • Prostaglandin E1 infusion to prevent duct closure
  • Surgical management
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498
Q

EBSTEIN’S ANOMALY

What is Ebstein’s anomaly?

A
  • Low insertion of tricuspid valve on right leading to larger atrium + smaller ventricle
  • Leads to poor RA>RV flow + so poor flow to pulmonary vessels
  • Associated with R>L shunt via ASD + so blood can bypass lungs > cyanosis
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499
Q

EBSTEIN’S ANOMALY

What is Ebstein’s anomaly associated with?

A
  • Wolff-Parkinson-White syndrome + lithium in pregnancy
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500
Q

EBSTEIN’S ANOMALY

What is the clinical presentation of Ebstein’s anomaly?

A
  • Evidence of heart failure
  • SOB, tachypnoea, poor feeding, collapse or cardiac arrest
  • Gallop rhythm with S3 + S4
  • Cyanosis few days after birth if ASD when ductus arteriosus closes
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501
Q

EBSTEIN’S ANOMALY

What are the investigations for Ebstein’s anomaly?

A
  • ECG = arrhythmias, RA enlargement (P pulmonale), LAD + RBBB
  • CXR = cardiomegaly + RA enlargement
  • ECHO diagnostic
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502
Q

EBSTEIN’S ANOMALY

What is the management of Ebstein’s anomaly?

A
  • Prophylactic Abx to prevent infective endocarditis

- Definitive Mx = surgical correction

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503
Q

AORTIC STENOSIS

What is aortic stenosis?

A
  • Aortic valve leaflets partly fused together giving restrictive exit from LV
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504
Q

AORTIC STENOSIS

What is aortic stenosis associated with?

A
  • Bicuspid aortic valve + William’s syndrome (supravalvular)

- Also may be mitral stenosis + coarctation of aorta too

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505
Q

AORTIC STENOSIS

What is the normal clinical presentation of aortic stenosis?

A
  • Most asymptomatic with ejection-systolic murmur at upper right sternal edge (aortic area) radiating to neck (carotid thrill)
  • Ejection click before murmur
  • Palpable systolic thrill
  • Slow rising pulses + narrow pulse pressure
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506
Q

AORTIC STENOSIS

How does more severe aortic stenosis present?

A
  • Severe = syncope, chest pain + dyspnoea on exertion

- Critical = severe heart failure + shock

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507
Q

AORTIC STENOSIS
What are the investigations for aortic stenosis?
What are some complications?

A
  • CXR (prominent LV), regular ECHO to assess need for interventions
  • LV outflow tract obstruction, heart failure + ventricular arrhythmias
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508
Q

AORTIC STENOSIS

What is the management of aortic stenosis?

A
  • Balloon valvotomy/dilatation if symptomatic

- May need surgical aortic valve replacement

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509
Q

PULMONARY STENOSIS
What is pulmonary stenosis?
What is it associated with?

A
  • Pulmonary valve leaflets are partly fused together giving a restrictive exit from RV
  • ToF, Noonan syndrome + congenital rubella syndrome
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510
Q

PULMONARY STENOSIS

What is the clinical presentation of pulmonary stenosis?

A
  • Ejection systolic murmur at upper left sternal edge with ejection click
  • ?RV heave due to RVH
  • Critical PS = duct-dependent pulmonary circulation so cyanosis in first few days of life
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511
Q

PULMONARY STENOSIS

What are the investigations for pulmonary stenosis?

A
  • CXR normal or post-stenotic dilatation of the pulmonary artery
  • ECG may show RVH (upright T wave in V1)
  • ECHO Dx
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512
Q

PULMONARY STENOSIS

What is the management of pulmonary stenosis?

A
  • Most asymptomatic so wait until pressure gradient across pulmonary valve increases > trans-catheter balloon dilatation
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513
Q

INFECTIVE ENDOCARDITIS

Who are at risk of infective endocarditis?

A
  • All children with CHD (except secundum ASD)

- Highest risk where turbulent blood flow = VSD, coarctation of aorta + PDA

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514
Q

INFECTIVE ENDOCARDITIS

What is the pathophysiology of infective endocarditis?

A
  • Infection of heart valves, septal defects or endocardial lined structures consisting of vegetations which are masses of fibrin, platelets + infectious organisms
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515
Q

INFECTIVE ENDOCARDITIS
What are some risk factors for infective endocarditis?
What is the most common cause?

A
  • IVDU, prosthetics, structural heart defects

- Staph aureus (previous Strep Viridians)

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516
Q

INFECTIVE ENDOCARDITIS

What are the septic and systemic signs of infective endocarditis?

A
  • Fever, malaise, night sweats, arthralgia/myalgia

- Systemic emboli from L sided vegetations may result in brain abscess + stroke

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517
Q

INFECTIVE ENDOCARDITIS

What are the clinical signs of infective endocarditis?

A
  • Splinter haemorrhage under nail beds
  • Retinal infarcts (Roth’s spots)
  • Tender nodules on fingers + toes (Osler’s nodes)
  • Painless erythematous palms + soles (Janeway lesions)
  • Microscopic haematuria
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518
Q

INFECTIVE ENDOCARDITIS
What are the investigations for infective endocarditis?
What is the management?

A
  • FBC (WCC raised), CRP/ESR raised
  • Blood cultures before Abx started
  • Echo to look for valve vegetations
  • High dose IV Abx (penicillin with aminoglycoside like vancomycin) for 6w
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519
Q

RHEUMATIC FEVER

What is the pathophysiology of rheumatic fever?

A
  • Multi-system disorder due to autoimmune response producing antibodies against group A beta-haemolytic strep pyogenes (after tonsillitis) that targets other tissues
  • T2 hypersensitivity reaction as immune system attacks cells throughout body
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520
Q

RHEUMATIC FEVER

How is rheumatic fever diagnosed?

A

Jones criteria –

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

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521
Q

RHEUMATIC FEVER

What are the major criteria in rheumatic fever?

A

JONES –

  • Joint arthritis (migratory as affects different joints at different times)
  • Organ inflammation (pancarditis > pericardial friction rub)
  • Nodules (subcut over extensor surfaces)
  • Erythema marginatum rash (pink rings of varying sizes on torso + proximal limbs)
  • Sydenham chorea
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522
Q

RHEUMATIC FEVER

What are the minor criteria in rheumatic fever?

A

FEAR –

  • Fever
  • ECG changes (prolonged PR interval) without carditis
  • Arthralgia without arthritis
  • Raised CRP/ESR
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523
Q

RHEUMATIC FEVER

What are the investigations for rheumatic fever?

A
  • Throat swab for MC&S
  • Anti-streptococcal antibodies (ASO) titres = anti-DNase B +ve indicates strep infection (repeat after 2w to check if negative)
  • Echo, ECG + CXR to check cardiac involvement
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524
Q

RHEUMATIC FEVER

What are some complications of rheumatic fever?

A
  • Recurrence
  • Valvular heart disease (mitral stenosis especially)
  • Chronic heart failure
  • Recurrent acute RF > scarring + fibrosis of heart valves > chronic RF
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525
Q

RHEUMATIC FEVER

What is the management of rheumatic fever?

A
  • Prevention by treating strep infections with 10d phenoxymethylpenicillin
  • Specialist Mx (NSAIDs for joint pain, aspirin + steroids for carditis)
  • Prophylactic 1/12 IM benzathine penicillin most effective to prevent recurrence (if not daily PO penicillin)
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526
Q

DILATED CARDIOMYOPATHY
When would you suspect dilated cardiomyopathy?
What is it?

A
  • Any child with enlarged heart + heart failure who was previously well
  • Large, poorly contracting heart can be inherited or secondary to metabolic disease or direct viral infection of myocardium (myocarditis)
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527
Q

DILATED CARDIOMYOPATHY
What is the management of dilated cardiomyopathy?
Management of myocarditis?

A
  • Dx by ECHO
  • Sx treatment with diuretics, ACEi + carvedilol (beta blocker)
  • Myocarditis usually improves spontaneously but some may need heart transplant
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528
Q

SUPRAVENTRICLAR TACHY
What is a supraventricular tachycardia?
Give a type

A
  • Re-entry tachycardia as circuit of conduction is set up with premature activation + excitation of the atrium via an accessory pathway
  • Wolff-Parkinson-White syndrome accessory pathway is Bundle of Kent
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529
Q

SUPRAVENTRICLAR TACHY
How does a supraventricular tachycardia present?
What is the ECG like?

A
  • Sx of heart failure in young child, palpitations, dyspnoea
  • Narrow complex tachycardia (250-300bpm)
  • WPW = delta wave (slurred upstroke to QRS) with a short PR interval
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530
Q

SUPRAVENTRICLAR TACHY

What is the management of a supraventricular tachycardia?

A
  • Vagal stimulation (carotid sinus massage, cold ice pack to face)
  • IV adenosine if fails
  • Electrical cardioversion if adenosine fails
  • Long term = ablation of pathway or flecainide
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531
Q

MALABSORPTION
What is malabsorption?
How does it present?

A
  • Disorders affecting digestion or absorption of nutrients, manifests as:
    – Abnormal stools (difficult to flush, offensive odour)
    – Failure to thrive or poor growth
    – Nutrient deficiencies (Fe anaemia, B12 deficiency)
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532
Q

MALABSORPTION

What are some causes of malabsorption?

A
  • Small intestine disease = coeliac
  • Exocrine pancreas dysfunction = CF
  • Cholestatic liver disease, biliary atresia
  • Short bowel syndrome (NEC, bowel removal)
  • Loss of terminal ileum function (resection, Crohn’s, absent bile acid)
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533
Q

IBD

What is inflammatory bowel disease (IBD)?

A
  • Umbrella term for Crohn’s disease + ulcerative colitis
  • Relapsing-remitting conditions involving inflammation of walls in the GI tract
  • Result of environmental triggers in a genetically predisposed individual
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534
Q

IBD
In terms of Crohn’s disease, describe the following features…

i) location?
ii) inflammation area?
iii) continuous?
iv) granulomatous?
v) smoking?
vi) goblet cells?
vii) histology?

A

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

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535
Q

IBD
In terms of Ulcerative colitis, describe the following features…

i) location?
ii) inflammation area?
iii) continuous?
iv) granulomatous?
v) smoking?
vi) goblet cells?
vii) histology?

A

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

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536
Q

IBD

What is the clinical presentation of Crohn’s disease?

A
  • Abdominal pain (RLQ), diarrhoea (often non-bloody) + weight loss
  • Failure to thrive
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537
Q

IBD

What is the clinical presentation of Ulcerative colitis?

A
  • PR bleeding (+ mucus), diarrhoea + colicky pain (LLQ)

- Tenesmus and urgency too

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538
Q

IBD
What extra-intestinal features are seen in…

i) Crohn’s disease?
ii) Ulcerative colitis?
iii) Both?

A

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

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539
Q

IBD

What are some initial investigations for IBD?

A
  • FBC (microcytic anaemia, raised WCC + platelets)
  • U+Es
  • Low albumin (malabsorb)
  • Raised ESR/CRP
  • Stool MC&S
  • Faecal calprotectin released by intestines when inflamed (useful screening)
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540
Q

IBD
What test is diagnostic for IBD?
What would it show?
What other investigation might you do?

A
  • Colonoscopy with biopsy (histology)
  • Crohn’s = small bowel narrowing, fissuring or thickened bowel wall, cobblestone appearance
  • UC = visible ulcers
  • Further imaging (USS, CT or MRI) to look at complications of Crohn’s
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541
Q

IBD

What is the medical management of Crohn’s disease?

A
  • Whole protein modular enteral feed for 6–8w can induce remission
  • Flares = PO prednisolone or IV hydrocortisone
  • Remission = azathioprine, methotrexate or mercaptopurine
  • Biologics (remission) = infliximab, adalimumab
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542
Q

IBD

What is the surgical management of Crohn’s disease?

A
  • Surgical resection of distal ileum if only affected area

- Treat strictures + fistulas secondary to Crohn’s

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543
Q

IBD

How do you induce remission in Ulcerative colitis?

A
  • Mild-mod = 1st line topical (rectal) aminosalicylate (5-ASA, mesalazine), add PO if remission not achieved or extensive disease, 2nd line = PO prednisolone
  • Severe = 1st line IV hydrocortisone, 2nd line IV ciclosporin
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544
Q

IBD
How do you maintain remission in Ulcerative colitis?
What should be cautioned?

A
  • PO/PR mesalazine, azathioprine or mercaptopurine

- Mesalazine can cause acute pancreatitis

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545
Q

IBD

What is the surgical management of Ulcerative colitis?

A
  • Panproctocolectomy = curative as removes disease
  • Pt left with permanent ileostomy or ileo-anal anastomosis (J-pouch) where ileum folded back on itself + fashioned into large pouch that functions as a rectum as it attaches to anus
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546
Q

COELIAC DISEASE
What is coeliac disease?
What is the pathophysiology?

A
  • Gluten-sensitive enteropathy
  • Autoimmune response to alpha-gliadin portion of protein gluten causes inflammation in small intestine (particularly jejunum)
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547
Q

COELIAC DISEASE

What is the consequence of the autoimmune response in coeliac disease?

A
  • Autoantibodies in response to gluten exposure target epithelial cells of intestine > inflammation + atrophy of the intestinal villi > malabsorption of nutrients
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548
Q

COELIAC DISEASE

What is the aetiology of coeliac disease and its associations?

A
  • Genetics = HLA-DQ2 + HLA-DQ8

- T1DM, thyroid, Down’s syndrome, FHx = test for it

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549
Q

COELIAC DISEASE

What is the clinical presentation of coeliac disease?

A
  • Abnormal stools (smelly, diarrhoea, floating)
  • Abdo pain, distension + buttock wasting
  • Failure to thrive, weight loss, fatigue
  • Dermatitis herpetiformis = itchy blistering skin rash, often on abdo
  • Nutrient deficiencies (B12, folate, Fe)
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550
Q

COELIAC DISEASE

What are the investigations for coeliac disease?

A
  • Pt must be on gluten-containing diet to be accurate
  • Raised antibodies (IgA), useful to monitor disease too – anti-tissue transglutaminase (TTG = first choice), anti-endomysial
  • Endoscopic small intestinal biopsy = gold standard
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551
Q

COELIAC DISEASE

What are the characteristic features seen on small intestinal biopsy?

A
  • Villous atrophy
  • Crypt hyperplasia
  • Increased intraepithelial lymphocytes
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552
Q

COELIAC DISEASE

What are some complications of coeliac disease?

A
  • Anaemias
  • Osteoporosis
  • Lymphoma (EATL)
  • Hyposplenism
  • Lactose intolerance
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553
Q

COELIAC DISEASE

What is the management of coeliac disease?

A
  • Lifelong gluten free diet = curative, supervised by dietician
  • May have gluten challenge later in life if Dx at <2y to ensure still intolerant
  • PCV vaccine with booster every 5y due to hyposplenism
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554
Q

HIRSCHSPRUNG’S DISEASE

What is Hirschsprung’s disease?

A
  • Absence of ganglionic cells from myenteric (Auerbach’s) plexus of large bowel resulting in narrow, contracted section of bowel > large bowel obstruction
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555
Q

HIRSCHSPRUNG’S DISEASE
Where is most affected by Hirschsprung’s disease?
What is it associated with

A
  • 75% confined to rectosigmoid
  • Commonly ileum moves into the caecum via the ileocaecal valve
  • M»F, Down’s syndrome
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556
Q

HIRSCHSPRUNG’S DISEASE

What is the clinical presentation of Hirschsprung’s disease?

A
  • Failure or delay to pass meconium within 24h
  • Abdo pain, distension + later bile (green) stained vomit = obstruction
  • Chronic constipation + failure to thrive
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557
Q

HIRSCHSPRUNG’S DISEASE

What are some investigations for Hirschsprung’s disease?

A
  • PR exam = narrow segment + withdrawal causes flow of liquid stool + flatus
  • AXR with barium contrast = dilated loops of bowel with fluid level
  • Suction rectal biopsy = DIAGNOSTIC showing absence of ganglionic cells
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558
Q

HIRSCHSPRUNG’S DISEASE

What is a complication of Hirschsprung’s disease?

A
  • Hirschsprung-associated enterocolitis (HAEC) = inflammation + obstruction of intestine, sometimes due to C. difficile
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559
Q

HIRSCHSPRUNG’S DISEASE
How does HAEC present?
What is a complication?
How is it managed?

A
  • 2-4w after birth = fever, abdo distension, diarrhoea (bloody) + signs of sepsis
  • Toxic megacolon + perforation = life-threatening
  • Urgent Abx, fluid resus + decompression of obstructed bowel
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560
Q

HIRSCHSPRUNG’S DISEASE

What is the management of Hirschsprung’s disease?

A
  • Bowel irrigation as initial management so meconium can pass
  • Surgical resection of aganglionic section of bowel = anorectal pullthrough (anastomosing innervated bowel>anus)
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561
Q

PYLORIC STENOSIS
What is pyloric stenosis?
What is the epidemiology?

A
  • Hypertrophy of the pyloric (circular) muscle causing gastric outlet obstruction
  • Presents 2–7w, M>F 4:1, particularly first-borns
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562
Q

PYLORIC STENOSIS

What is the clinical presentation of pyloric stenosis?

A
  • Projectile vomiting (no bile) due to powerful peristalsis AFTER feeds
  • Hunger after vomiting until dehydration > loss of interest
  • Failure to thrive
  • Palpable abdominal ‘olive’ mass in RUQ (hypertrophic muscle of pylorus)
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563
Q

PYLORIC STENOSIS

What are some investigations for pyloric stenosis?

A
  • Test feed = visible gastric peristalsis
  • Hyponatraemic, hypokalaemic + hypochloraemic metabolic acidosis
  • USS = Dx, visualises thickened pylorus
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564
Q

PYLORIC STENOSIS

What is the management of pyloric stenosis?

A
  • Correct fluid + electrolyte disturbances (0.45% saline, 5% dextrose + K+ supplements) before any surgery
  • Laparoscopic Ramstedt’s pyloromyotomy
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565
Q

PYLORIC STENOSIS
What is Ramstedt’s pyloromyotomy?
What is the after care?

A
  • Incision into smooth muscle of pylorus to widen canal

- Can feed 6h after

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566
Q

ABDOMINAL PAIN

What are some causes of acute abdominal pain?

A
  • Surgical = appendicitis, intussusception, Meckel’s, malrotation, mesenteric adenitis
  • Boys = exclude testicular torsion + strangulated inguinal hernia
  • Medical = UTI, DKA, HSP, lower lobe pneumonia
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567
Q

ABDOMINAL PAIN

What is recurrent abdominal pain?

A
  • Recurrent pain sufficient to interrupt normal activities + lasting ≥3m
  • Often functional abnormalities of gut motility or enteral neurones = IBS, abdominal migraine or functional dyspepsia
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568
Q

ABDOMINAL PAIN

What are some causes of recurrent abdominal pain?

A
  • No structural cause in >90%
  • GI = IBS, abdominal migraine, coeliac
  • Gynae = ovarian cysts, PID, Mittelschmerz (ovulation pain)
  • Hepatobiliary = hepatitis, gallstones, UTI
  • Psychosocial = bullying, abuse, stress
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569
Q

ABDOMINAL PAIN

What are some red flags in recurrent abdominal pain for organic disease?

A
  • Epigastric pain at night, haematemesis = duodenal ulcer
  • Vomiting = pancreatitis
  • Jaundice = liver disease
  • Dysuria, secondary enuresis = UTI
  • Bilious vomiting + abdo distension = malrotation
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570
Q

ABDOMINAL PAIN

What are some investigations for abdominal pain?

A
  • Guided by clinical features, urine MC&S essential
  • Endoscopy if dyspeptic
  • Colonoscopy if any PR bleeding
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571
Q

ABDOMINAL PAIN

How can abdominal pain be managed?

A
  • Encourage parents to not ask about or focus on pain
  • Distract child with other interests + activities
  • Advice about sleep, regular balanced meals, exercise etc
572
Q

APPENDICITIS

What is appendicitis?

A
  • Commonest cause of surgical abdominal pain, very uncommon in <3y
573
Q

APPENDICITIS

What is the pathophysiology of appendicitis?

A
  • Obstruction of the appendix lumen (faecolith) causing inflammation + infection of the appendix wall
  • This makes it liable to perforation which can be rapid as omentum less developed so fails to surround the appendix + then peritonitis
574
Q

APPENDICITIS

What are the symptoms of appendicitis?

A
  • Classic central, colicky abdominal pain which localises to RIF from localised peritoneal inflammation
  • Anorexia
  • Minimal vomiting
575
Q

APPENDICITIS

What are the signs of appendicitis?

A
  • Low grade fever
  • Abdominal pain aggravated by movement
  • RIF tenderness + guarding (McBurney’s point)
  • Rebound + percussion tenderness (precipitated by cough, jump)
  • Rovsing’s sign = LIF pressure causes RIF pain
576
Q

APPENDICITIS

What are some investigations for appendicitis?

A
  • FBC (raised WCC), CRP raised
  • Faecoliths can be see in AXR
  • USS to exclude gynae pathology
  • Gold standard = CT abdomen esp if uncertain
  • -ve tests but clinical suspicion = diagnostic laparoscopy
577
Q

APPENDICITIS

What is the management of appendicitis?

A
  • ?Perforation = fluid resus + prophylactic IV Abx before surgery
  • Appendicectomy (often diagnostic laparoscopy, may be delayed if stable)
578
Q

INTUSSUSCEPTION
What is intussusception?
Most commonly seen?
Epidemiology?

A
  • Bowel telescopes (invaginates) into itself (proximal bowel into distal segment)
  • Commonly ileocaecal valve (ileum>caecum)
  • Most common cause of intestinal obstruction in infants 2m–2y, M>F
579
Q

INTUSSUSCEPTION

What are some symptoms of intussusception?

A
  • Severe paroxysmal abdominal colic pain + food refusal
  • Child becomes pale + draws up legs during episodes of pain (colic), screaming
  • Vomiting (bilious), abdominal distension + shock
580
Q

INTUSSUSCEPTION

What are some signs of intussusception?

A
  • RUQ ‘sausaged-shaped’ mass

- Redcurrant jelly stool as blood + mucus in stool

581
Q

INTUSSUSCEPTION

What are the investigations for intussusception?

A
  • USS #1 choice, shows ‘target sign’

- AXR shows distended small bowel + no gas distally in large bowel

582
Q

INTUSSUSCEPTION

What is the management of intussusception?

A
  • Aggressive IV fluid resus
  • Reduction via air enema (air insufflation) by radiologist (risk of perf)
  • Caution as risk of gangrenous bowel + perf so laparotomy if air enema fails
583
Q

MECKEL’S DIVERTICULUM

What is Meckel’s diverticulum?

A
  • Ileal remnant of the vitello-intestinal duct which contains ectopic gastric mucosa or pancreatic tissue
584
Q

MECKEL’S DIVERTICULUM

What are some features of Meckel’s diverticulum?

A

Rule of 2s –

  • 2% population
  • 2 feet from ileocaecal valve
  • 2 inches
  • 2 types of tissue
  • 2y/o
585
Q

MECKEL’S DIVERTICULUM

What is the clinical presentation of Meckel’s diverticulum?

A
  • Severe, painless, dark red PR bleeding

- May present with intussusception, volvulus or diverticulitis (mimics appendicitis)

586
Q

MECKEL’S DIVERTICULUM

What is the investigation + management of Meckel’s diverticulum?

A
  • Technetium scan will demonstrate increased uptake by ectopic gastric mucosa
  • Surgical resection, may need transfusion if severe haemorrhage
587
Q

INTESTINAL MALROTATION
What is intestinal malrotation?
What is the outcome?

A
  • During rotation of small bowel in foetal life, if mesentery not fixed at the duodenojejunal flexure or in the ileocaecal region, its base is shorter than normal
  • Predisposed to volvulus > obstruction > ischaemia
588
Q

INTESTINAL MALROTATION
What can contribute to the obstruction in intestinal malrotation?
How may it present?

A
  • Ladd bands may cross the duodenum

- Obstruction or obstruction with compromised blood supply

589
Q

INTESTINAL MALROTATION

What is the clinical presentation of intestinal malrotation?

A
  • First week of life bilious vomiting (below ampulla of vater) = malrotation until proven otherwise
  • Abdo pain
  • Tenderness (peritonitis, ischaemic bowel)
590
Q

INTESTINAL MALROTATION

What is the investigation + management of intestinal malrotation?

A
  • Urgent upper GI contrast study is Dx, abdo USS

- Urgent surgical correction = Ladd’s procedure rotates bowel anti-clockwise

591
Q

MESENTERIC ADENITIS

What is non-specific abdominal pain?

A
  • Abdo pain which resolves in 24–48h
  • Similar Sx to appendicitis but pain less severe + RIF tenderness variable
  • Often accompanied with viral URTI + cervical lymphadenopathy
592
Q

MESENTERIC ADENITIS

What is the management of mesenteric adenitis?

A
  • Conservative

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

593
Q

ABDOMINAL MIGRAINE

What is an abdominal migraine?

A
  • Pain >1h, midline, paroxysmal + associated with facial pallor + vomiting
  • Can be associated with headache, photophobia + aura
594
Q

ABDOMINAL MIGRAINE
What is the acute management of abdominal migraine?
What is the prophylaxis?
What is a caution?

A
  • Sumatriptan + paracetamol ± NSAID (ibuprofen)
  • Pizotifen (serotonin receptor antagonist) or propranolol
  • Withdraw pizotifen slowly as can cause depression, anxiety, poor sleep + tremor
595
Q

IBS

What is irritable bowel syndrome (IBS)

A
  • Associated with altered gastrointestinal motility + an abnormal sensation of intra-abdominal events
  • Can be exacerbated by psychosocial factors like stress + anxiety
596
Q

IBS

How does IBS present?

A
  • Abdo pain often worse before or relieved by defecation
  • Intermittent explosive, loose or mucous stools + constipations
  • Bloating
  • Feeling of incomplete defecation
597
Q

IBS

How is IBS diagnosed?

A
  • By exclusion (FBC, CRP/ESR, coeliac screen, faecal calprotectin + MC&S)
  • Dietician involvement with possibility of excluding foods if they aggravate Sx
598
Q

IBS

What is the management of IBS?

A
  • Constipation = good water + fibre intake, physical activity, PRN laxatives
  • Diarrhoea = avoid alcohol + caffeine, try bulking agent ± anti-motility such as loperamide after each loose stool
  • Anti-spasmodic for pain like mebeverine or hyoscine butylbromide (Buscopan)
599
Q

FUNCTIONAL DYSPEPSIA

What is functional dyspepsia?

A
  • Epigastric pain, early satiety, bloating + postprandial vomiting
600
Q

FUNCTIONAL DYSPEPSIA

What is the management of functional dyspepsia?

A
  • C-13 Urea breath test for H. pylori + upper GI endoscopy if Sx recur, if normal = Dx
  • Hypoallergenic diet
  • Eradicate H. pylori if suspected with triple therapy > omeprazole, amoxicillin + metronidazole or clarithromycin
601
Q

VOMITING
Define…

i) posseting
ii) regurgitation
iii) vomiting

A

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

602
Q

VOMITING

What are some common causes of vomiting in infants?

A
  • GOR (v common)
  • Infection (gastroenteritis, pertussis, UTI, meningitis)
  • Dietary protein intolerances + feeding problems
  • Intestinal obstruction (pyloric stenosis, malrotation)
  • Inborn errors of metabolism, CAH
603
Q

VOMITING

What are some common causes of vomiting in preschool children?

A
  • Gastroenteritis + infections
  • Appendicitis
  • Intestinal obstruction (intussusception, volvulus)
  • Raised ICP
  • Torsion
604
Q

VOMITING

What are some common causes of vomiting in school-age children and adolescents?

A
  • Gastroenteritis, infection
  • Peptic ulceration + H. pylori
  • Appendicitis, raised ICP, DKA, alcohol/drugs
  • Bulimia/anorexia nervosa
  • Pregnancy
  • Torsion
605
Q

VOMITING
What are some differentials for the below red flags…

i) bile-stained vomit?
ii) haematemesis?
iii) abdo distension?
iv) PR bleed?
v) severe dehydration + shock?
vi) failure to thrive?

A

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

606
Q

CONSTIPATION
What is constipation?
What is encopresis?

A
  • Infrequent passage of dry, hardened faeces often accompanied by straining or pain, by definition <3 complete stools per week
  • Involuntary soiling
607
Q

CONSTIPATION

What are some features of constipation?

A
  • Hard or like rabbit droppings (type 1)
  • May have PR bleed if hard
  • Waxing + waning of pain with stool passage
  • Retentive posturing
608
Q

CONSTIPATION

What are some causes of constipation?

A
  • Usually idiopathic
  • Meds (opiates)
  • LDs
  • Hypothyroidism
  • Hypercalcaemia
  • Poor diet (dehydration, low fibre)
  • Occasionally forceful potty training
609
Q

CONSTIPATION

What are some red flags in constipation?

A
  • Delayed passage of meconium = Hirschsprung’s, CF
  • Failure to thrive = hypothyroid, coeliac
  • Abnormal lower limb neurology = lumbosacral pathology
  • Perianal bruising or multiple fissures = ?abuse
610
Q

CONSTIPATION

What investigations might you do in constipation?

A
  • Abdo exam may reveal palpable faecal mass

- PR examination only by an expert

611
Q

CONSTIPATION

What are some complications of constipation?

A
  • Acquired megacolon
  • Anal fissures
  • Soiling + behavioural problems
  • Child may avoid defecating due to pain > constipation + overflow diarrhoea
612
Q

CONSTIPATION

What is the process of constipation and overflow diarrhoea?

A
  • Prolonged faecal status = resorption of fluids = increase in size + consistency
  • This leads to rectal stretching + reduced sensation > overflow + soiling (very smelly)
613
Q

CONSTIPATION

What conservative management is given for constipation?

A
  • Balanced diet with adequate fibre + sufficient fluids
  • Toilet train to sit on toilet after mealtimes
  • Star charts reward
  • Use these in combination with medical management
614
Q

CONSTIPATION

What is the medical management of constipation?

A
  • 1st = macrogol (osmotic) laxative like polyethylene glycol + electrolytes (Movicol)
  • 2nd = stimulant laxative if no effect like Senna, bisocodyl ± osmotic laxative (lactulose) or stool softener (docusate) if hard stools
  • 3rd = consider enema ± sedation or specialist manual evacuation
  • Continue for several weeks after regular bowel habit then gradual dose reduction
615
Q

GOR
What is gastro-oesophageal reflux (GOR)?
What are some risk factors?

A
  • Involuntary passage of gastric contents into the oesophagus due to inappropriate relaxation of the lower oesophageal sphincter, often due to functional immaturity
  • Preterm delivery, neuro disorders (cerebral palsy)
616
Q

GOR
What is the clinical presentation of GOR?
When can it become problematic?

A
  • Recurrent regurgitation or vomiting but normal weight gain

- Problematic = chronic cough, hoarse cry, distress after feeding + reluctance to feed, failure to thrive

617
Q

GOR

What are the investigations for GOR?

A
  • Usually clinical but if atypical Hx, complications or failed Tx…
    – 24h oesophageal pH monitoring
    – Endoscopy + biopsy to identify oesophagitis
    – Contrast studies like barium meal
618
Q

GOR

What are some complications of GOR?

A
  • Failure to thrive from severe vomiting
  • Oesophagitis = haematemesis, discomfort on feeding or heartburn, Fe anaemia
  • Aspiration > recurrent pneumonia, cough/wheeze
  • Sandifer syndrome = dystonic neck posturing (torticollis)
619
Q

GOR

What is the management of uncomplicated GOR?

A
  • Small + frequent meals, do not over feed
  • Regular burping to help milk settle
  • Keep baby upright after feeds
  • Trial thickening agents like Nestargel or add Gaviscon to feeds (not at same time)
620
Q

GOR

What is the management of more significant GOR?

A
  • Acid suppression = H2 receptor antagonists (ranitidine) or PPI (omeprazole)
  • Surgical Mx (fundoplication) if complications, unresponsive to intensive medical treatment or oesophageal strictures
621
Q

GASTROENTERITIS
What is gastroenteritis?
What is the most common cause?
What are some risk factors?

A
  • Inflammation of the stomach and intestines with diarrhoea, nausea + vomiting
  • Viral rotavirus in paeds, norovirus in adults
  • Poor hygiene, immunocompromised, poorly cooked foods
622
Q

GASTROENTERITIS

What is the difference in gastroenteritis in developing and developed countries?

A
  • Developing = causes thousands of deaths, mostly bacteria from contaminated food
  • Developed = mostly viral, infants susceptible to dehydration
623
Q

GASTROENTERITIS

What is the clinical presentation of gastroenteritis?

A
  • Diarrhoea = change in consistency of stools to loose/liquid ± increase in frequency of passing stools (acute if <2w, often lasts 5–7d)
  • Vomiting (1–3d), abdominal cramps
  • Bloody diarrhoea associated with bacterial infection
624
Q

GASTROENTERITIS

What are 5 bacteria that can cause gastroenteritis?

A
  • Campylobacter jejuni
  • E. coli
  • Shigella
  • Salmonella
  • Bacillus cereus
625
Q

GASTROENTERITIS
What is campylobacter jejuni?
How is it spread?
How does it present?

A
  • # 1 bacterial cause worldwide, gram negative curved/spiral bacteria
  • Raw/poorly cooked poultry, untreated water, unpasteurised milk
  • Abdominal cramps, bloody diarrhoea, vomiting + fever
626
Q

GASTROENTERITIS

What is the management of campylobacter jejuni?

A
  • Abx considered after isolating organism where pts have severe symptoms or other risk factors
  • Azithromycin or ciprofloxacin
627
Q

GASTROENTERITIS
What E. coli strain is important to be aware of in terms of gastroenteritis?
How is it spread?
How does it present?

A
  • E. coli 0157 as produces the Shiga toxin
  • Contact with infected faeces, unwashed salads or contaminated water
  • Abdominal cramps, bloody diarrhoea + vomiting
628
Q

GASTROENTERITIS

What is a complication of E. coli 0157?

A
  • Destroys blood cells + can lead to haemolytic uraemic syndrome
  • Abx increase this risk so avoid
629
Q 
GASTROENTERITIS
How is Shigella spread?
How does it present?
Complication?
Management?
A
  • Faeces contaminating drinking water, swimming pools + food
  • Bloody diarrhoea, abdominal cramps + fever
  • Shiga toxin > HUS
  • Severe = azithromycin or ciprofloxacin
630
Q

GASTROENTERITIS
How is Salmonella spread?
How does it present?

A
  • Raw eggs, poultry

- Watery diarrhoea ± mucus or blood

631
Q

GASTROENTERITIS
What is Bacillus Cereus?
How does it present?

A
  • Gram +ve rod spread through inadequately cooked food, grows well on food, classically undercooked or reheated rice
  • Produces toxin (cereulide) > abdominal cramping + vomiting soon after ingestion, reaches intestines + different toxin causes watery diarrhoea, resolves within 24h
632
Q

GASTROENTERITIS

What are the main investigations for gastroenteritis?

A
  • Assess for dehydration as main concern
  • FBC, CRP/ESR, U+Es
  • ?Stool MC&S (electron microscopy if viral) if blood in stool, immunocompromised, travel Hx, not improved in a week
633
Q

GASTROENTERITIS

What are signs of clinical dehydration?

A
  • Sunken eyes
  • Reduced skin turgor
  • Lethargic
  • Tachycardia, tachypnoea
  • Dry mucous membranes
  • Appears unwell
  • Oliguria
634
Q

GASTROENTERITIS

What are signs of clinical shock?

A
  • Pale/mottled
  • Hypotension
  • Prolonged CRT
  • Cold
  • Decreased GCS
  • Sunken fontanelle
  • Weak pulses
  • Anuria
635
Q

GASTROENTERITIS

What are some complications of gastroenteritis?

A
  • Isonatraemic + hyponatraemic dehydration
  • Hypernatraemic dehydration
  • Post-infective lactose intolerance (remove lactose + slowly reintroduce)
  • Guillain-Barré
  • Dehydration #1 cause of death
636
Q

GASTROENTERITIS
What is isonatraemic dehydration?
What is hyponatraemic dehydration?

A
  • Water loss + Na+ loss are proportional
  • Child with diarrhoea drinks large quantities of water, Na+ loss greater than water so fall in plasma Na+
    – Fluid shifts from ECF>ICF + can result in convulsions
637
Q

GASTROENTERITIS
What is hypernatraemic dehydration?
How does it present?
How is it managed?

A
  • Water loss exceeds Na+ loss + fluid shifts from ICF>ECF (rare)
  • Jittery movements, increased muscle tone, hyperreflexia, convulsions, drowsiness/coma
  • Slow rehydration over 48h
638
Q

GASTROENTERITIS

What are the general measures of managing gastroenteritis?

A
  • Isolation if in hospital with barrier nursing as spreads easily
  • School isolation until Sx settled for 48h
  • Continue feeds (not solids)
  • Encourage PO fluids
  • Discourage fruit juices + carbonated drinks
  • Mx at home if can keep fluid down
639
Q

GASTROENTERITIS
What is the management of gastroenteritis with clinical dehydration?
How is shock managed in gastroenteritis?

A
  • 50ml/kg low osmolarity oral rehydration solution (Dioralyte) in addition to maintenance fluid, may need NG tube if unable to drink or vomiting
  • Rapid IVI (0.9% NaCl 20ml/kg), repeat if necessary, Abx if septicaemia
640
Q

TODDLER’S DIARRHOEA
What is Toddler’s diarrhoea?
How common is it?
What causes it?

A
  • Chronic non-specific diarrhoea
  • Commonest cause of persistent loose stools in pre-school children
  • Likely maturational delay in intestinal motility
641
Q

TODDLER’S DIARRHOEA

What is the clinical presentation of Toddler’s diarrhoea?

A
  • Stools vary in consistency (well-formed>explosive + loose)

- Presence of undigested vegetables common = ‘peas + carrots diarrhoea’

642
Q

TODDLER’S DIARRHOEA

What is the management of Toddler’s diarrhoea?

A
  • Most outgrow by age 5 but may be delay in reaching faecal continence
  • Ensure adequate fat to slow gut transit + fibre, avoid fresh fruit juice
643
Q 
THREADWORMS
What are threadworms?
How does it present?
How is it investigated?
How is it treated?
A
  • Enterobius vermicularis
  • V common, perianal itching (esp. at night), girls may have vulval Sx
  • Sellotape perianal area + send to lab to visualise eggs
  • Anti-helminthic (mebendazole if >6m stat) + hygiene measures for WHOLE family
644
Q

PUBERTY
In terms of female puberty…

i) age?
ii) first sign?
iii) other signs?

A

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

645
Q

PUBERTY
In terms of male puberty…

i) age?
ii) first sign?
iii) other signs?

A

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

646
Q

PUBERTY

What features of puberty are consistent with both sexes?

A
  • Adrenarche = maturation of adrenal gland leading to androgen production causing body odour + mild acne
  • Development of acne, axillary hair, body odour + mood changes
647
Q

PUBERTY
What can be used to measure puberty?
What are the components?

A
  • Tanner staging
  • B (breasts)
  • PH (pubic hair)
  • G (male genitals)
648
Q

PUBERTY
Explain the tanner stages for…

i) breast?
ii) pubic hair?
iii) genitalia?

A

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

649
Q

PRECOCIOUS PUBERTY

What are the 2 main types of precocious puberty?

A
  • Gonadotropin-dependent (central/true) = premature activation of hypothalamic-pituitary-gonadal axis
  • Gonadotropin-independent (pseudo/false) = excess sex steroids
650
Q

PRECOCIOUS PUBERTY
What is the pathophysiology and potential causes of…

i) central precocious puberty?
ii) pseudo precocious puberty?

A

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

651
Q

PRECOCIOUS PUBERTY
What is precocious puberty in females?
What are the causes?

A
  • Development of secondary sexual characteristics (thelarche) <8y
  • More common in girls, usually idiopathic or familial, occasionally late presenting CAH
652
Q

PRECOCIOUS PUBERTY

What is the management of precocious puberty in feamles?

A
  • Full Hx, ages parents went into puberty, USS of uterus + ovaries
  • If ok = reassure
  • GnRH analogues stop puberty progressing further by suppressing pulsatile GnRH secretion until she is ready
653
Q

PRECOCIOUS PUBERTY
What is precocious puberty in males?
What are the causes?

A
  • Development of secondary sexual characteristics <9y
  • Less common, more worrying
    – Pituitary adenoma (bilateral testicular enlargement suggests gonadotropin release)
    – CAH or adrenal tumour (small testes)
    – Gonadal tumour (unilateral testicular enlargement)
654
Q

PRECOCIOUS PUBERTY
What is the management of precocious puberty in males?
What is a genetic cause of precocious puberty?

A
  • Full Hx including ages parents went into puberty
  • MRI head for ?tumour
  • Treat underlying cause
  • McCune Albright syndrome (café-au-lait, short stature)
655
Q

PRECOCIOUS PUBERTY
What is premature thelarche?
Who does it normally affect?

A
  • Breast enlargement (may be asymmetrical) rarely beyond stage 3 but absence of axillary/pubic hair or growth spurt (differentiating from precocious puberty)
  • Females 6m–2y, non-progressive + self-limiting
656
Q

PRECOCIOUS PUBERTY

What is premature pubarche (adrenarche)?

A
  • Pubic hair development <8y (F), <9y (M) but no other signs of sexual development
657
Q

PRECOCIOUS PUBERTY
What causes premature pubarche (adrenarche)?
How can you tell?

A
  • Accentuation of normal maturation of androgen production by adrenal gland (adrenarche), can be late-onset CAH or adrenal tumour
  • Urinary steroid profile to help differentiate
658
Q

PRECOCIOUS PUBERTY
What are the associations with premature pubarche (adrenarche)?
What is the management?

A
  • More common in Asian + Afro-Caribbean, increased risk of PCOS later in life
  • USS of ovaries + uterus with bone age to exclude central precocious puberty
659
Q

CAH
What is congenital adrenal hyperplasia (CAH)?
What is a major risk factor?

A
  • Autosomal recessive condition with deficiency of 21-hydroxylase enzyme
  • Small minority = 11-beta-hydroxylase
  • Consanguineous parents
660
Q

CAH

What is the normal physiology of the adrenal gland?

A
  • Glucocorticoids (cortisol) deal with stress > raise glucose, reduce inflammation, suppresses immune system
  • Mineralocorticoids (aldosterone) act on kidneys to control balance of salt (mineral) + Water in blood > increases Na+ reabsorption + K+ excretion
661
Q

CAH

What is the pathophysiology of CAH?

A
  • 21-hydroxylase responsible for converting progesterone into cortisol + aldosterone
  • Progesterone also used to create testosterone, but not with 21-hydroxylase
  • Excess progesterone (as not converted to aldosterone or cortisol) gets converted into testosterone instead (high)
662
Q

CAH

What is the clinical presentation of CAH in females?

A
  • Tall for age, facial hair, absent periods, deep voice + precocious puberty
  • Severe = virilised genitalia (ambiguous), labial fusion + enlarged clitoris
663
Q

CAH
What is the clinical presentation of CAH in…

i) males?
ii) both sexes?

A

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

664
Q

CAH
What is a critical complication of CAH?
How does it present?
What is the management?

A
  • Male salt-losers present in salt-losing crisis shortly after birth
    – Vomiting, weight loss, floppiness + circulatory collapse
    – Hyponatraemic, hyperkalaemic, metabolic acidosis, hypoglycaemic
    – IV 0.9% NaCl + dextrose, IV hydrocortisone
665
Q

CAH

What are some investigations for CAH?

A
  • Monitor growth, skeletal maturity, plasma androgens

- High metabolic precursor levels of 17alpha-hydroxyprogesterone (used to monitor disease too)

666
Q

CAH

What management is needed for females with CAH?

A
  • Corrective surgery to external genitalia within 1st year

- Definitive surgical reconstruction usually delayed until puberty

667
Q

CAH

What is the general management of CAH?

A
  • Lifelong glucocorticoids (hydrocortisone) to suppress ACTH > normal growth
  • Lifelong mineralocorticoids (fludrocortisone) if there’s salt loss, infants may need NaCl
  • Additional hydrocortisone to cover illness/surgery
  • Antenatal dexamethasone controversial treatment, risks>benefits currently
668
Q

SEXUAL DIFFERENTIATION
In embryology, when does sexual differentiation occur?
How does a male foetus not produce female sexual characteristics?

A
  • Foetal gonad bipotential until 6w
  • Sex-determining region on Y chromosome (SRY) gene present
  • Production of anti-mullerian hormone inhibits Mullerian (paramesonephric) duct from persisting which > uterus + fallopian tubes
669
Q

SEXUAL DIFFERENTIATION

How does a male foetus produce male sexual characteristics?

A
  • Leydig cells produce testosterone causing Wolffian duct differentiation > vas, epididymis, seminal vesicles
  • Later, dihydrotestosterone leads to virilised external genitalia
670
Q

SEXUAL DIFFERENTIATION

What is the process of female sexual differentiation?

A
  • No SRY gene present so no AMH

- Mullerian duct persists which develops into ovaries + female genitalia

671
Q

SEXUAL DIFFERENTIATION

What are some causes of sexual differentiation disorders?

A
  • CAH (#1)
  • Congenital hypopituitarism (Prader-Willi)
  • Ovotesticular disorder of sex development (true hermaphroditism) leading to both testicular + ovarian tissues as XX + XY containing cells present
672
Q

SEXUAL DIFFERENTIATION

What is the management of sexual differentiation disorders?

A
  • Do not guess sex
  • Karyotyping, adrenal + sex hormone levels measured
  • USS of internal structures + gonads
  • Surgical reconstruction may be delayed so individual can make choice
673
Q

DELAYED PUBERTY

What are the two categories for delayed puberty?

A
  • Hypogonadotropic hypogonadism = deficiency of LH + FSH leading to deficiency of sex hormones
  • Hypergonadotropic hypogonadism = gonads fail to respond to stimulation from gonadotrophins (LH + FSH), no -ve feedback from sex hormones so increased LH + FSH
674
Q

DELAYED PUBERTY

What are some causes of hypogonadotropic hypogonadism?

A
  • Constitutional delay in growth + puberty (FHx)
  • Chronic diseases (IBD, CF, coeliac)
  • Excess stress (anorexia, intense exercise, low weight)
  • Hypothalamo-pituitary disorders (panhypopituitarism, Kallman’s + anosmia, GH deficiency)
675
Q

DELAYED PUBERTY

What are some causes of hypergonadotropic hypogonadism?

A
  • Chromosomal abnormalities (Turner’s XO, Klinefelter’s 47XXY)
  • Acquired gonadal damage (post-surgery, chemo/radio, torsion)
  • Congenital absence of the testes or ovaries
676
Q

DELAYED PUBERTY
In delayed puberty, what are some causes of…

i) short stature (delayed + short)?
ii) normal stature (delayed + normal)?

A

i) Turner’s, Prader-Willi + Noonan’s

ii) PCOS, androgen insensitivity, Kallmann’s + Klinefelter’s

677
Q

DELAYED PUBERTY
What is delayed puberty in…

i) females?
ii) males?

A

i) Absence of pubertal development by 14y

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

678
Q

DELAYED PUBERTY

What are some investigations for delayed puberty?

A
  • FBC + ferritin (anaemia), U+E (CKD), coeliac antibodies
  • Hormonal testing
  • Genetic testing/karyotyping
  • XR wrist to assess bone age (low in constitutional delay)
  • Pelvic USS to assess ovaries + other pelvic organs
  • MRI head if ?pituitary pathology + assess olfactory bulbs (Kallmann)
679
Q

DELAYED PUBERTY

What are the hormonal tests you would do in delayed puberty?

A
  • Early morning serum gonadotropins (FSH/LH)
  • TFTs
  • GH provocation testing (insulin, glucagon)
  • IGF-1 levels
  • Serum prolactin
680
Q

DELAYED PUBERTY

What is the management of delayed puberty?

A
  • Constitutional = reassure, can Tx if severe distress
  • F = oestradiol
  • Young M = PO oxandrolone (weak androgenic steroid will induce some catch-up growth but not 2ary sexual characteristics)
  • Older M = low dose IM testosterone for growth + sexual characteristics
681
Q

NUTRITION
What are the WHO recommendations for breastfeeding?
What are baby’s nutritional requirements?
What happens to a baby’s body weight once born?

A
  • Exclusive breastfeeding for first 6m, mixed 2y + beyond
  • 150ml/kg/day split between feeds every 2-3h initially, slowly increase
  • Normal for breastfed babies to lose up to 10% (formula 5%) of bodyweight by day 5 but should return to birth weight by day 10
682
Q

NUTRITION

What are the advantages of breastfeeding?

A
  • Free
  • Helps bonding
  • Lactational amenorrhoea
  • Reduces risk of NEC in preterm infants + SIDS
  • Antibodies to protect neonate against infection
  • Reduced maternal risk of breast + ovarian cancer
683
Q

NUTRITION

What are the disadvantages of breastfeeding?

A
  • Breast milk jaundice
  • Unknown intake so ?eating adequately
  • Discomfort for mother
  • Transmission of drugs or infections to baby
  • Insufficient vitamin D + K (reason for vitamin K IM injection at birth)
684
Q

NUTRITION
What is weaning?
When is it typically done?

A
  • Gradual transition from milk to normal food

- 6m with pureed foods that are easy to palate, swallow + digest > normal, healthy diet

685
Q

MEASUREMENT

What are some determinants of growth?

A
  • Parental phenotype + genotype
  • Nutrition
  • Pregnancy factors
  • Psychosocial deprivation
  • Endocrine function
686
Q

MEASUREMENT

What are 3 important components to measurements?

A
  • Weight = naked infant or child only in underclothing
  • Height = >2y standing height, <2y horizontal
  • Head circumference = occipitofrontal circumference is a measure of head + accurate representation of brain size + development
687
Q

MEASUREMENT

What are some concerns with various head circumferences?

A
  • Microcephaly = ?brain not formed properly, ?LDs
  • Macrocephaly = ?hydrocephalus
  • Note = small babies likely to have small heads, compare ALL values
688
Q

MEASUREMENT
How might the accuracy of measurements be compromised?
A part of measurement is working out the mid-parent height.
How is this done for boys and girls?

A
  • Faulty technique (inexperienced staff), faulty equipment (wrongly calibrated), uncooperative child
  • Boys = [(Dad + mum height in cm) ÷ 2] + 7
  • Girls = [(Dad + mum height in cm) ÷ 2] – 7
689
Q

MEASUREMENT

What is the role/management of measurements in paediatrics?

A
  • Assess if a child’s overall height is abnormal (<2nd or >98th centile)
    – GP review if <2nd, Paeds review if <0.4th
  • Assess if a child is failing to follow their growth potential (drop centile line)
    – More concerning than consistently 9th centile
  • Assess if a child is losing or gaining weight quickly
    – ?Pathology
690
Q

MEASUREMENT
What are the phases of growth in children?
When does growth end?

A
  • First 2y = growth velocity fastest in utero + infancy, driven by nutritional factors
  • 2y-puberty = steady slow growth (genes, thyroid + growth hormones, health)
  • Puberty = rapid growth spurt driven by sex hormones
  • When the epiphyses fuse
691
Q

FAILURE TO THRIVE

What is failure to thrive?

A
  • Failure to gain adequate weight or achieve adequate growth at a normal rate during infancy or childhood
  • Descriptive term (aka faltering growth)
692
Q

FAILURE TO THRIVE

What are some broad aetiological categories for failure to thrive?

A
  • Inadequate calorie intake (most common)
  • Malabsorption
  • Inadequate retention
  • Increased calorie requirements
693
Q

FAILURE TO THRIVE

What are some causes of inadequate calorie intake?

A
  • Impaired suck/swallow (cleft palate, neuro-motor dysfunction, CP)
  • Inadequate availability of food (socioeconomic deprivation)
  • Neglect
  • Maternal depression
694
Q

FAILURE TO THRIVE

What are some causes of malabsorption?

A
  • Cystic fibrosis
  • Cow’s milk protein intolerance
  • Coeliac disease
  • IBD
  • Short gut syndrome
695
Q

FAILURE TO THRIVE
What are some causes of…

i) inadequate retention?
ii) increased calorie requirements?
iii) inability to process nutrients properly?i

A

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

696
Q

FAILURE TO THRIVE

What is marasmus?

A
  • Severe protein malnutrition
  • Weight for height >3 standard deviations below the median
  • Wasted, wrinkly appearance due to severe protein-energy malnutrition
697
Q

FAILURE TO THRIVE

What is kwashiorkor?

A
  • Severe protein malnutrition
  • Generalised oedema
  • Sparse + depigmented hair
  • Skin rash
  • Angular stomatitis
  • Distended abdomen
  • Hepatomegaly + diarrhoea
698
Q

FAILURE TO THRIVE

How is failure to thrive defined by height?

A
  • Mild = fall across 2 centile lines on growth chart

- Severe = fall across 3 centile lines on growth chart

699
Q

FAILURE TO THRIVE

How does NICE define faltering growth in children by weight?

A
  • ≥1 centile spaces if birth weight was <9th centile
  • ≥2 centile spaces if birth weight was 9th–91st centile
  • ≥3 centile spaces if birth weight was >91st centile
  • Current weight is below 2nd centile for age, regardless of birth weight
700
Q

FAILURE TO THRIVE

What are some investigations for failure to thrive?

A
  • Serial measurements on growth charts for Dx
  • Full Hx + examination
  • Measure height + weight > BMI (if >2y)
  • Calculate mid-parental height
  • Food diary
  • Urine dipstick for UTI + coeliac screen (anti-TTG) for 1st line investigations
701
Q

FAILURE TO THRIVE

What would you ask about in a failure to thrive history + examination?

A
  • Pregnancy, birth, developmental + social Hx
  • Feeding or eating Hx (breast/bottle, times, volume, frequency)
  • Observe feeding
  • Mum’s physical + mental health
  • Parent-child interactions
702
Q

FAILURE TO THRIVE
What might BMI tell you?
Any other investigations to perform?

A
  • <2nd centile = ?undernutrition or small build, <0.4th centile = likely undernutrition > assessment + intervention
  • Specific underlying cause if suspected (CRP/ESR, U+Es, LFTs, TFTs)
703
Q

FAILURE TO THRIVE

What is the MDT management approach for failure to thrive?

A
  • Health visitor (parental support if inorganic)
  • Dietician may suggest nutritional supplement drinks or add energy dense foods, encourage regular structured mealtimes + Snacks
  • Community paediatrician
  • SALT if impaired suck or swallow
704
Q

FAILURE TO THRIVE

When would hospital admission be required?

A
  • Severe failure to thrive + require active refeeding

- Can use this time to observe + improve method of feeding if needed

705
Q

FAILURE TO THRIVE

What is the last line consideration in failure to thrive?

A
  • Enteral tube feeding
  • Must have clear goals + defined end point
  • Only used if serious concerns about weight gain + other interventions tried
706
Q

SHORT STATURE

Define short stature

A
  • Height below 2nd centile (>2 standard deviations below the mean for the age, sex)
707
Q

SHORT STATURE

What are some causes of short stature?

A
  • Familial (short parents)
  • Constitutional delay of growth + puberty
  • IUGR + extreme prematurity
  • Endocrine (GH deficiency, panhypopituitarism, steroid excess, hypothyroidism
  • Syndromes (Down’s, Turner’s Noonan’s)
  • Chronic illness (coeliac, IBD, CHD)
  • Psychosocial deprivation (malnutrition, neglect)
  • Achondroplasia
708
Q

SHORT STATURE
How would the following present in terms of short stature…

i) familial?
ii) constitutional delay?
iii) IUGR + extreme prematurity?

A

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

709
Q

SHORT STATURE
How would the following present in terms of short stature…

i) endocrine?
ii) syndromes?
iii) chronic illness + psychosocial deprivation?
iv) achondroplasia?

A

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

710
Q

SHORT STATURE

What are some investigations for short stature?

A
  • Serial measurements plotted on growth chart
  • Calculate mid-parental height
  • Bone age scan (Wrist XR) to assess size + shape of bones + growth plates
  • FBC, CRP/ESR, U+Es, TFTs, coeliac screen
  • Pituitary function tests (GH provocation, IGF-1 levels)
  • Dexamethasone suppression testing
  • Karyotyping
711
Q

TALL STATURE

Define tall stature

A
  • Height above 98th centile (>2 standard deviations above the mean for the age, sex)
712
Q

TALL STATURE

What are some causes of tall stature?

A
  • Familial (#1)
  • Obesity
  • Secondary (rare):
    – Hyperthyroidism
    – True gigantism (excess GH)
    – Excess adrenal androgen steroids (CAH)
  • Syndromes (Marfan, Klinefelter = long-legged tall stature)
713
Q

TALL STATURE
How does obesity contribute to tall stature?
How should it be managed?

A
  • ‘Fuels’ early growth but puberty is often earlier than average, does not increase final height
  • Tailored clinical intervention if BMI ≥91st centile (diet, exercise, behavioural)
  • Assessment for comorbidity if ≥98th centile
714
Q

TALL STATURE

How does CAH affect growth?

A
  • Both CAH + precocious puberty lead to early epiphyseal fusion so eventual height is reduced after an early excessive growth rate
715
Q

LIMP OVERVIEW
What is the main source of a limp?
What are important differentials?

A
  • Hip, then leg > knee > thigh > foot (least likely)

- Intra-abdominal pathology like hernia, testicular torsion

716
Q

LIMP OVERVIEW

What are some differentials for limp in a child 0–3y?

A
  • Trauma like # (accidental or NAI)
  • Infections (septic arthritis, osteomyelitis)
  • DDH (chronic)
  • Malignancy (Ewing’s, osteogenic sarcoma)
  • Neuromuscular disease (CP, Duchenne’s)
  • ANY CHILD <3Y WITH LIMP NEEDS URGENT ASSESSMENT*
717
Q

LIMP OVERVIEW

What are some differentials for limp in a child 4–10y?

A
  • Trauma, infection, malignancy
  • Transient synovitis (acute)
  • Perthe’s disease (P for primary school, chronic)
  • Juvenile idiopathic arthritis (chronic)
718
Q

LIMP OVERVIEW

What are some differentials for limp in a child >10y?

A
  • Trauma, infection, malignancy
  • Slipped upper femoral epiphysis (S for secondary school, acute/chronic)
  • JIA
  • Reactive arthritis
719
Q

LIMP OVERVIEW

What are some general investigations for a child presenting with limp?

A
  • Full Hx + exam (top>toe)
  • General obs (HR, BP, temp)
  • FBC (WCC), CRP/ESR, blood cultures if septic
  • XR both AP + lateral for joint (+ joints above/below)
  • USS joint to look for thickening of capsule or effusion
720
Q

DDH

What is developmental dysplasia of the hip (DDH)?

A
  • Abnormal relationship of femoral head to the acetabulum leading to aberrant development of hip causing instability
  • Spectrum of dysplasia (underdevelopment), subluxation (partial dislocation) or frank dislocation of the hip
721
Q

DDH
What are some risk factors for DDH?
How would you manage them?

A
  • First degree FHx, breech at ≥36w or breech delivery ≥28w, multiple pregnancy
    – USS hip by 6w even if normal NIPE exam
  • Other = F>M 6:1, oligohydramnios
722
Q

DDH

What is the clinical presentation of DDH?

A
  • Painless limp
  • Limited abduction (reduced ROM)
  • Leg length discrepancy
  • May have waddling or abnormal gait but otherwise well
723
Q

DDH

What is the main investigation for DDH and what are you looking for?

A

NIPE at 72h + 6–8w

  • Leg length discrepancy
  • Restricted hip abduction of affected side
  • Barlow + ortolani tests
  • Clunking of hips on tests
724
Q

DDH
What are you assessing for when you look at…

i) leg length discrepancy?
ii) barlow test?
iii) ortolani test?

A

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

725
Q

DDH
After the NIPE, what would be the investigation of choice if positive?
What other investigation might you perform?

A
  • USS by 2w of age

- XR may be useful in older infants >3m

726
Q

DDH

What is the management of DDH?

A
  • If <6m = Pavlik harness to hold femoral head in position (flexed + abducted) to allow the hip socket (acetabulum) to develop normal shape (remove after 6-8w)
  • Surgical reduction if harness fails or Dx >6m = hip spica cast to immobilise hip for prolonged period after surgery (risk of avascular necrosis + re-dislocation)
727
Q

SEPTIC ARTHRITIS
What is septic arthritis?
Who is it commonly seen in and how?

A
  • Serious infection of the joint space as it can lead to bone destruction
  • Most common <2y, usually from haematogenous + soft tissue swelling
728
Q

SEPTIC ARTHRITIS
What is the most common causative organism of septic arthritis?
What are common causes in…

i) infants?
ii) <4y?
iii) >4y?

A
  • Staphylococcus aureus
    i) GBS, S. aureus, coliforms
    ii) S. aureus, pneumococcus, haemophilus
    iii) S. aureus, gonococcus (adolescents)
729
Q

SEPTIC ARTHRITIS

What is the clinical presentation of septic arthritis?

A
  • Usually single joint (knee or hip) + acute onset
  • Hot, red, swollen + painful joint (including at rest)
  • Refusal to weight bear
  • Stiffness + reduced ROM with pain if moved (hip may be held flexed)
  • Systemic = fever, lethargy, sepsis
730
Q

SEPTIC ARTHRITIS
What are some investigations for septic arthritis?
How is it diagnosed?

A
  • FBC, blood cultures, CRP + ESR, USS guided joint aspiration for MC&S
  • Kocher’s modified criteria /5, ≥3 is likely
    –Temp>38.5
    – Raised CRP/ESR/WCC
    – Non-weight bearing
731
Q

SEPTIC ARTHRITIS

What is the management of septic arthritis?

A
  • IV empirical Abx (flucloxacillin) until sensitivities back
  • Arthroscopic lavage or surgical drainage if resolution does not occur rapidly or deep-seated joint (hip)
  • Immobilise joint initially but then mobilise to prevent deformity
  • Rest + analgesia
732
Q

OSTEOMYELITIS
What is osteomyelitis?
What are the two different types?

A
  • Infection in the bone + bone marrow, often in the metaphysis of long bones
  • Acute = rapid presentation with acutely unwell child
  • Chronic = deep seated, slow growing infection + Sx
733
Q

OSTEOMYELITIS
What causes osteomyelitis?
What is the epidemiology?
What are some risk factors?

A
  • S. Aureus #1 or H. influenzae (directly via bone or haematogenous spreading)
  • M>F, <10y
  • Open #, orthopaedic surgery, sickle cell anaemia (Salmonella predominates), immunocompromised (HIV),
734
Q

OSTEOMYELITIS

What is the clinical presentation of osteomyelitis?

A
  • Acutely unwell child
  • Refusing to weight bear
  • Severe pain, swelling + tenderness
  • May have high fever (low grade if chronic)
735
Q

OSTEOMYELITIS

What are some investigations for osteomyelitis?

A
  • FBC (Raised WCC), raised ESR/CRP, blood cultures, bone marrow aspiration MC&S
  • XR can be normal
  • MRI is best imaging to establish Dx
736
Q

OSTEOMYELITIS

What is the management of osteomyelitis?

A
  • IV empirical Abx (flucloxacillin or clindamycin if allergy) until sensitivities back
  • Amoxicillin, cefotaxime or ceftriaxone if <4y + suspect H. influenzae
  • ?Surgical drainage or debridement of infected bone
737
Q

PERTHE’S DISEASE

What is the pathophysiology of Perthe’s disease?

A
  • Disruption of blood flow to femoral head causing avascular necrosis of the bone
  • Affects the epiphysis of femur, which is bone distal to growth plate (physis)
  • Over time, revascularisation or neovascularisation + healing of the femoral head with remodelling of bone
738
Q

PERTHE’S DISEASE

What are some risk factors for Perthe’s disease?

A
  • Social deprivation
  • LBW
  • Passive smoking
739
Q

PERTHE’S DISEASE

What is the clinical presentation of Perthe’s disease?

A
  • 4-8y, mostly male, limp (no Hx of trauma)
  • Pain (often unilateral) in hip or groin (?knee referral) with restricted hip movements (internal + external rotation)
  • +ve Trendelenburg test (abductor dysfunction) = ‘sound side sags’
740
Q

PERTHE’S DISEASE

What are the investigations for Perthe’s disease?

A
  • Blood tests all normal
  • XR of both hips (with frog views) is initial investigation + assesses healing
    – Flattening of femoral head
  • Technetium bone scan or MRI may be needed to confirm Dx if normal XR
741
Q

PERTHE’S DISEASE

What are the complications of Perthe’s disease?

A
  • Premature fusion of the growth plates

- Soft + deformed femoral head can lead to early hip OA

742
Q

PERTHE’S DISEASE

What is the general management of Perthe’s disease?

A
  • Keep femoral head within acetabulum (cast, braces)

- Physio to retain ROM in muscles + joints without excess stress on the bone

743
Q

PERTHE’S DISEASE
What is the management of Perthe’s disease for…

i) <6y + less severe?
ii) older, severe or not healing?

A

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

744
Q

JIA

What is juvenile idiopathic arthritis (JIA)?

A
  • Autoimmune inflammation in joints > joint pain, swelling + stiffness
745
Q

JIA

What is the criteria for a clinical diagnosis of JIA?

A
  • Onset before 16y with no underlying cause
  • Joint swelling/stiffness
  • > 6w in duration to exclude other causes (i.e. reactive)
746
Q

JIA

What is the clinical presentation of JIA?

A
  • Joint pain, swelling + stiffness (particularly morning) = hallmarks
  • Limping/functional disability
  • Decreased ROM
  • Warmth + colour change
747
Q

JIA

What are the 4 types of JIA?

A
  • Systemic JIA (Still’s disease)
  • Polyarticular JIA
  • Oligoarticular JIA
  • Enthesitis-related arthritis
748
Q

JIA

How does systemic JIA (Still’s disease) present?

A
  • Subtle salmon-pink rash
  • High swinging fevers
  • Lymphadenopathy, weight loss, muscle pain, splenomegaly
  • Pleuritis, pericarditis + uveitis
749
Q

JIA

What are the investigations for systemic JIA?

A
  • Antinuclear antibodies (ANA) + rheumatoid factor = NEGATIVE
  • Raised inflammatory markers = CRP/ESR, platelets + serum ferritin
750
Q

JIA
What is the main complication of systemic JIA?
How does it present?
What is the management?

A
  • Macrophage activation syndrome = severe activation of immune system with massive inflammatory response
  • Acutely unwell with DIC, febrile, anaemia, thrombocytopenia, bleeding, non-blanching rash, low ESR
  • Life-threatening = supportive + steroids
751
Q 
JIA
What is polyarticular JIA?
What are the features?
How does it present?
Immunology?
A
  • ≥5 joints affected, equivalent of RA in adults
  • Symmetrical, affects small joints (of hand + feet) as well as large joints (hips + knees)
  • Mild systemic Sx = mild fever, anaemia + reduced growth
  • If rheumatoid factor +ve = seropositive (tend to be older children)
752
Q

JIA
What is oligoarticular JIA?
What are the features?
Epidemiology?

A
  • ≤4 joints affected, often just monoarthritis
  • Tends to affect the larger joints like knee or ankle
  • Mostly girls <6y
753
Q

JIA
How does oligoarticular JIA present?
Classic association?
Immunology?

A
  • Usually no systemic Sx, normal/mildly elevated inflammatory markers
  • Anterior uveitis = ophthalmologist referral
  • ANA +ve but RF -ve
754
Q

JIA
What is enthesitis-relataed arthritis?
What is the main feature?

A
  • Paeds version of seronegative spondyloarthropathies (ankylosing spondylitis, psoriatic/reactive arthritis, IBD-related arthritis)
  • Enthesitis = inflammation at the point a tendon or muscle inserts to bone
755
Q

JIA
How might enthesitis-related arthritis present?
What is it associated with

A
  • Sx of psoriasis (psoriatic plaques, nail pitting, dactylitis) or IBD
  • HLA-B27 gene
  • Prone to anterior uveitis = ophthalmology referral
756
Q

JIA
What is reactive arthritis?
What causes it?

A
  • Arthritis that develops following an infection where the organism cannot be recovered from the joint
  • Post STI (chlamydia) in older children or Salmonella, Campylobacter
757
Q

JIA
How does reactive arthritis present?
What is the management?

A
  • Reiter’s = can’t see (conjunctivitis), pee (urethritis) or climb a tree (arthritis)
  • Sx (analgesia, NSAIDs, sometimes intra-articular steroids)
758
Q

JIA

What are the XR features of JIA?

A

Same as RA (LESS) –

  • Loss of joint space
  • Erosions (causing joint deformity)
  • Soft tissue swelling
  • Soft bones (osteopenia)
759
Q

JIA

What are some complications from JIA?

A
  • Chronic anterior uveitis > severe visual impairment
  • Flexion contractures of joints
  • Growth failure + constitutional problems like delayed puberty
  • Osteoporosis
760
Q

JIA

What is the non-medical management of JIA?

A
  • MDT approach = education, psychologist, physio, pain team, rheumatology
761
Q

JIA

What is the medical management of JIA?

A
  • NSAIDs for Sx relief during flares
  • Intra-articular steroids for oligoarthritis
  • Avoid systemic steroids if possible (osteoporosis, growth suppression)
    – IV methylprednisolone can be used if severe arthritis
  • DMARDs like methotrexate, rarely sulfasalazine for polyarthritis
  • Biologics if poor control like tocilizumab, adalimumab, etanercept
762
Q

TRANSIENT SYNOVITIS
What is transient synovitis?
What is it associated with?

A
  • ‘Irritable hip’ caused by transient inflammation of the joint synovial membrane
  • Recent viral URTI, small % will develop Perthe’s
763
Q

TRANSIENT SYNOVITIS

What is the clinical presentation of transient synovitis?

A
  • Limp + refusal to weight bear, 2–10y
  • Groin or hip pain (may be referred to knee)
  • Mild low-grade fever but otherwise systemically well
  • Limited internal rotation + pain on movement but comfortable at rest
764
Q

TRANSIENT SYNOVITIS

What are some investigations for transient synovitis?

A
  • # 1 = exclude septic arthritis so if suspect = cultures + joint aspiration
  • Normal WCC, slight increase in CRP
  • USS may show effusion but XR normal
765
Q

TRANSIENT SYNOVITIS

What is the management of transient synovitis?

A
  • Self-limiting with only simple analgesia + rest = rapid Sx improvement
  • Manage at home with safety netting + review to ensure no fever + Sx resolving
766
Q

SUFE/SCFE

What is slipped upper/capital femoral epiphysis? (SUFE/SCFE)?

A
  • Displacement of femoral head epiphysis postero-inferiorly along the growth plate (through zone of hypertrophy)
767
Q

SUFE/SCFE

What is SUFE/SCFE associated with?

A
  • Boys, >10y, obese + undergoing growth spurt

- Metabolic endocrine abnormalities (hypothyroid)

768
Q

SUFE/SCFE

What is the clinical presentation of SUFE/SCFE?

A
  • May be Hx of minor trauma that triggers onset
  • Hip, groin, thigh or knee pain (disproportionate to severity of trauma)
  • Painful limp + may have antalgic gait
  • Very restricted internal rotation (+ abduction)
769
Q

SUFE/SCFE

What are the investigations for SUFE/SCFE?

A
  • XR initial Ix of choice (AP + frog-leg views)
  • Bloods (incl. inflammatory markers) normal
  • ?Technetium bone scan + MRI scan
770
Q

SUFE/SCFE

What is the management of SUFE/SCFE?

A
  • Surgery = internal fixation (pinning femoral head into position for prevention)
771
Q

COMMON KNEE ISSUES
What is Osgood-Schlatters disease?
What is the epidemiology?

A
  • Inflammation at the tibial tuberosity where the patellar ligament inserts
  • 10–15y sporty males (football, basketball)
772
Q

COMMON KNEE ISSUES

What is the clinical presentation of Osgood-Schlatters disease?

A
  • Visible or palpable hard + tender lump/swelling at tibial tuberosity
  • Pain in anterior aspect of knee, often unilateral
  • Exacerbated by physical activity, kneeling + extension of knee
773
Q

COMMON KNEE ISSUES

What is the management of Osgood-Schlatters disease?

A
  • Reduce pain + inflammation = NSAIDs, ice, reduce exercise)

- Stretching + physio once settled to strengthen joint + improve function

774
Q

COMMON KNEE ISSUES
What is chondromalacia patellae?
How does it present?
What is the management

A
  • Softening of the cartilage of the patellar, common in teenage girls
  • Anterior knee pain on walking up/downstairs + rising from prolonged sitting
  • Usually responds to physiotherapy
775
Q

COMMON KNEE ISSUES
What is patellar tendonitis?
Who is it more common in?

A
  • Chronic anterior knee pain that worsens after running, tender below patellar on examination
  • More common in athletic teenage boys
776
Q

COMMON KNEE ISSUES
What is…

i) osteochondritis dissecans?
ii) patellar subluxation?

A

i) Pain after exercise with intermittent swelling

ii) Medial knee pain due to lateral subluxation of the patellar, knee may give way

777
Q

GROWING PAINS

What are growing pains?

A

Diagnosis by exclusion –

  • Pain never present at start of day after waking but can awaken from sleep
  • Physical activities are not limited, no limp, settles with massage
  • Bilateral pain in lower limbs (shins/ankles) + not limited to joints
  • Can be worse after a day of vigorous activity + intermittent
778
Q

OSTEOPOROSIS
What is osteoporosis in paediatrics defined by?
How would you investigate?

A
  • ≥1 vertebral crush #
  • ≥2 long bone fractures by age 10 (≥3 by age 19)
  • Bone mineral density less than 2.5 standard deviations below the mean
  • DEXA scan
779
Q

OSTEOPOROSIS

What are the causes of osteoporosis?

A
  • Inherited = osteogenesis imperfecta, haematological issues
  • Acquired:
    – Drug induced (Steroids)
    – Endocrinopathies (hypoparathyroidism)
    – Malabsorption
    – Immobilisation (disabilities)
    – Inflammatory disorders
780
Q

OSTEOGENESIS IMPERFECTA
What is osteogenesis imperfecta?
What is the pathophysiology?

A
  • Autosomal dominant condition leading to brittle bones + prone to fractures
  • Defects in type 1 collagen protein which is essential for the structure + function of bone, as well as skin, tendons + other connective tissues
781
Q

OSTEOGENESIS IMPERFECTA

What is the clinical presentation of osteogenesis imperfecta?

A
  • Bone fragility = recurrent + inappropriate #, joint + bone pain
  • Bone deformity (bowed legs, bent bones, scoliosis)
  • Impaired mobility due to poor muscle mass
  • Poor growth > short stature
  • Hypermobility as ligamentous laxity
782
Q

OSTEOGENESIS IMPERFECTA

What are some associations with osteogenesis imperfecta?

A
  • Conductive hearing loss (otosclerosis)
  • Blue/grey tinted sclera due to scleral thinness
  • Valvular prolapse, aortic dissection > aortic incompetence
  • Hernias
  • ‘Wormian bones’ = skull feels like bubble wrap (wiggly black lines on skull XR)
783
Q

OSTEOGENESIS IMPERFECTA

What are the investigations for osteogenesis imperfecta?

A
  • Clinical Dx with XR to diagnose fractures + bone deformities
  • DEXA scan to look at bone mineral density (osteoporosis)
  • 7 types under the sillence classification
784
Q

OSTEOGENESIS IMPERFECTA
In the Sillence classification, what is…

i) type 1?
ii) type 2?
iii) types 3–4?

A

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

785
Q

OSTEOGENESIS IMPERFECTA

What is the MDT management of osteogenesis imperfecta?

A
  • Physio + OT to maximise strength + function
  • Paeds for medical treatment + follow up
  • Orthopaedic surgeons to manage #
  • Pain team, specialist nurses for advice + support
786
Q

OSTEOGENESIS IMPERFECTA

What is the medical management of osteogenesis imperfecta?

A
  • Vitamin D supplementation to prevent deficiency

- Bisphosphonates (IV pamidronate) to increase bone density + reduce #

787
Q

ACHONDROPLASIA
What is achondroplasia?
How does it occur?

A
  • Skeletal dysplasia leading to disproportionate short stature (dwarfism)
  • Abnormal function of epiphyseal (growth) plates which restricts bone growth
788
Q

ACHONDROPLASIA

What is the aetiology of achondroplasia?

A
  • Autosomal dominant, abnormal fibroblast growth factor receptor 3 (FGFR-3) gene
  • Always heterozygous as homozygous is fatal
789
Q

ACHONDROPLASIA

What is the clinical presentation of achondroplasia?

A
  • Short stature from marked shortening of limbs + fingers
  • Large head with frontal bossing + depression of nasal bridge
  • ‘Trident’ hands + marked lumbar lordosis
790
Q

ACHONDROPLASIA

What are some complications of achondroplasia?

A
  • Foramen magnum stenosis > cervical cord compression + hydrocephalus
  • Recurrent otitis media (cranial abnormalities)
  • Obstructive sleep apnoea
  • Obesity
791
Q

ACHONDROPLASIA

What is the management of achondroplasia?

A
  • No cure but MDT approach to maximise functioning = paeds, specialist nurses, PT/OT, geneticists
  • ?Leg lengthening (controversial)
792
Q

RICKETS
What is rickets?
What is it caused by?

A
  • Defective bone mineralisation > “soft” + deformed bones (paeds osteomalacia)
  • Vitamin D deficiency (recommended paeds intake 400IU = 10mg)
793
Q

RICKETS

What are some risk factors for rickets?

A
  • Darker skin (need more sunlight)
  • Lack of exposure to sun
  • Poor diet or malabsorption
  • CKD as kidneys metabolise vitamin D to active form
794
Q

RICKETS
What is the normal physiology of vitamin D?
What are some sources of vitamin D?

A
  • Increases Ca2+ absorption at gut + reabsorption at kidneys + role in immunity
  • Sunlight, fortified cereals, eggs, oily fish
795
Q

RICKETS

What happens when there is inadequate vitamin D?

A
  • Lack of Ca2+ + phosphate in blood which are required for bone construction > defective bone mineralisation
  • Low Ca2+ causes secondary hypoparathyroidism as parathyroid gland tries to raise Ca2+ level by secreting parathyroid hormone
  • This leads to increased resorption of Ca2+ from the bones, worsening the issue
796
Q

RICKETS

What are the symptoms of rickets?

A
  • Bone pain, swelling + deformities
  • Muscle weakness + poor growth (gross motor delay)
  • Pathological or abnormal #
  • May have hypocalcaemic convulsions or carpopedal spasm
797
Q

RICKETS

What are some bone deformities seen in rickets?

A
  • Bowing of legs, knock knees
  • Harrison sulcus = indentation of softened lower ribcage at site of attachment of diaphragm
  • Rachitic rosary = ends of ribs expand at costochondral junctions causing lumps along chest
  • Craniotabes = soft skull with delayed closure of sutures + frontal bossing
  • Expansion of metaphyses (esp. wrist)
798
Q

RICKETS

What are some investigations for rickets?

A
  • Serum biochemistry
  • FBC + ferritin (Fe anaemia), inflammatory markers
  • Kidney, liver + TFTs, malabsorption screen (anti-TTG)
  • Autoimmune + rheumatoid tests
  • XR required to diagnose
799
Q

RICKETS

What would serum biochemistry show in rickets?

A
  • Low = calcium + phosphate
  • High = ALP + PTH
  • 25-hydroxyvitamin D levels deficient (<25nmol/L)
800
Q

RICKETS

What might an XR show in rickets?

A
  • Osteopenia (radiolucent bones)
  • Cupping
  • Fraying of metaphyses
  • Widened epiphyseal plate
801
Q

RICKETS

What is the management of rickets?

A

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

802
Q

TALIPES
What is talipes?
What are the two types and their differences?

A
  • Fixed abnormal ankle position
  • Talipes equinovarus = inverted + plantarflexed (clubfoot)
  • Talipes calcaneovalgus = everted + dorsiflexed
803
Q

TALIPES
What causes talipes equinovarus?
What is the management?

A
  • Idiopathic or secondary to oligohydramnios
  • Ponseti method (manipulate to normal position then plaster casting)
  • At some point Achilles tenotomy to release tension
  • Night-time braces ‘boots and bars’ applied until 4y
804
Q

TALIPES
What causes talipes calcaneovalgus?
What is the management?

A
  • Intrauterine moulding

- Self corrects although foot exercises can be given

805
Q 
GENETICS OVERVIEW
What is non-disjunction?
What is the outcome?
Management?
Karyotype?
A
  • Error in meiosis where pair of chromosomes fail to separate so one gamete has 2 chromosome copies and one has none
  • Fertilisation of the gamete with 2 chromosomes gives rise to a trisomy
  • Parental chromosomes do not need to be examined, related to maternal age
  • 47 chromosomes
806
Q

GENETICS OVERVIEW
What is Robertsonian translocation?
Karyotype?

A
  • Extra copy of one chromosome is joined onto another chromosome
  • 46 chromosomes but 3 copies of one chromosomes material
807
Q

GENETICS OVERVIEW

What is the management of Robertsonian translocation?

A
  • Parental chromosomes analysis is needed, one parent may be carrier
  • Translocation carriers have 45 chromosomes on karyotype (one is in wrong place)
808
Q

GENETICS OVERVIEW

What are the 3 types of Mendelian inheritance?

A
  • Autosomal dominant
  • Autosomal recessive
  • X-linked (recessive)
809
Q

GENETICS OVERVIEW
In terms of autosomal dominant inheritance…

i) inheritance chance?
ii) general rule?
iii) pattern of inheritance?
iv) examples?

A

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

810
Q

GENETICS OVERVIEW

What are some reasons for autosomal dominant conditions presenting in families with no family history?

A
  • # 1 = non-paternity
  • New mutation
  • Gonadal mosaicism
811
Q

GENETICS OVERVIEW
In terms of autosomal recessive inheritance…

i) inheritance chance?
ii) general rule?
iii) requirements to develop disease?
iv) carrier risk in siblings?
v) examples?

A

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

812
Q

GENETICS OVERVIEW
What is a big risk factor for autosomal recessive conditions?
What is the outcome?

A
  • Consanguineous parents, esp. if many generations of it
  • Can give appearance of AD pedigree for a recessive condition
  • Particularly in people with Asian origin
813
Q

GENETICS OVERVIEW
In terms of X-linked recessive inheritance…

i) who is affected?
ii) who transmits?
iii) what can occur in females?
iv) examples?

A

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

814
Q

GENETICS OVERVIEW

What are the 4 types of non-mendelian inheritance?

A
  • Multi-factorial/polygenic
  • Genomic imprinting + uniparental disomy
  • Mitochondrial inheritance
  • Gonadal mosaicism
815
Q

GENETICS OVERVIEW

Give an example of multi-factorial/polygenic inheritance

A
  • Combination between pre-disposing genes + lived environment
  • Spina bifida increased risk = folic acid deficiency + sibling affected
816
Q

GENETICS OVERVIEW
What is genomic imprinting + uniparental disomy?
Give an example

A
  • Most genes both copies are expressed, some genes are only maternally or paternally expressed (imprinting)
  • Prader-Willi + Angelman’s syndrome both caused by either cytogenic deletions of the same region of chromosome 15q or by uniparental disomy of chromosome 15
817
Q

GENETICS OVERVIEW
What do mitochondrial diseases lead to?
What is the inheritance?
Give some examples

A
  • Responsible for ATP production so if abnormal > poor production + hence myopathies
  • Exclusively maternally inherited from circular mitochondrial DNA in cytoplasm of ovum (sperm mitochondria in tail)
  • Myoclonic epilepsy, ragged red fibres (MERRF), mitochondrially inherited DM + deafness (DIDMOAD)
818
Q

GENETICS OVERVIEW

What is gonadal mosaicism?

A
  • Some cells have mutations in genes giving rise to a particular phenotype e.g. birthmarks
  • Gonadal mosaicism is when germ cells involved
819
Q

GENETICS OVERVIEW

Explain the process of gonadal mosaicism

A
  • Father = mosaic sperm (some sperm with mutated gene, some sperm normal)
  • Mother = all eggs with normal gene
  • Offspring = fertilised egg > union of male DNA (sperm) with mutated gene + female DNA (egg) with normal gene
  • Every cell of embryo has one copy of mutated + one copy of normal
820
Q

GENETICS OVERVIEW

What are 3 ways of testing genes?

A
  • DNA analysis via polymerase chain reaction to amplify the DNA + determine the sequence of the relevant gene
  • Karyotyping (look at # of chromosomes, their size + basic structure)
  • Molecular cytogenic analysis = fluorescent in situ hybridisation (FISH) to detect presence, # + chromosomal location of specific sequences
821
Q

GENETICS OVERVIEW

What is the purpose of DNA analysia?

A
  • Antenatal Dx (amniocentesis or CVS)
  • Confirm clinical Dx
  • Detect female carriers for X-linked disorders
  • Detect carriers of AR disorders
  • Pre-symptomatic diagnosis of AD disorders like Huntington’s disease
822
Q

GENETICS OVERVIEW

In the case of Huntington’s disease, can healthy children be tested if parents consent for them?

A
  • No, have to be old enough to give informed consent themselves
823
Q

GENETICS OVERVIEW

What is the role of a clinical geneticist?

A
  • Involved in making diagnoses
  • Explains Dx with family + discuss prognosis
  • Discuss options (genetic testing, screening, prenatal Dx)
  • Refer to appropriate specialists for Mx
824
Q

GENETICS OVERVIEW

What are some reasons for referral to genetic counselling?

A
  • Pre-conception advice where FHx of disorder
  • Antenatal Dx
  • Paeds = developmental delay, dysmorphic features
  • Carrier testing in known FHx
  • Adult onset conditions advice about getting test
825
Q

ASSOCIATIONS
In terms of genetics, what are associations?
Name 2

A
  • Disorders that affect many body systems

- VACTERL + CHARGE

826
Q

ASSOCIATIONS

What is VACTERL association?

A
  • Vertebral (scoliosis, hypoplasia)
  • Anorectal (imperforate anus)
  • Cardiac (anomalies like VSD, ASD, TOF)
  • Tracheoesophageal (fistula)
  • oEsophageal (atresia)
  • Renal (anomalies)
  • Limb (anomalies)
827
Q

ASSOCIATIONS

What is CHARGE association?

A
  • Coloboma (pupil defect)
  • Heart defects
  • Atresia (choanal atresia, blockage of nasal passage)
  • Retardation of growth or development
  • Genital hypoplasia
  • Ear abnormalities
828
Q

DOWN’S SYNDROME
What is Down’s syndrome?
What is the life expectancy?
What are some risk factors?

A
  • Trisomy 21 (3x copies of chromosome 21)
  • About 60y
  • Increasing maternal age #1 (1 in 100 by 40y, increased nondisjunction), FHx or if mother has Down’s (rare)
829
Q

DOWN’S SYNDROME

What are the causes of Down’s syndrome?

A
  • Nondisjunction (95%) leaves cell with extra C21 so trisomy on fertilisation
  • Robertsonian translocation (4%) = long arm of C21 translocate to C14 often
  • Mosaicism (1%) = cells have mixed amounts of chromosomes
830
Q

DOWN’S SYNDROME

What is the classical craniofacial appearance in Down’s syndrome?

A
  • Flat occiput (brachycephaly) + flat bridge of nose
  • Upward sloping palpebral fissures (eyes slant down + inwards)
  • Prominent epicanthic folds (skin overlying medial portion of eye + eyelid)
  • Short neck + stature
  • Small mouth, protruding tongue, small ears
  • Brushfield spots in iris (pigmented spots)
831
Q

DOWN’S SYNDROME

What other anomalies can be seen in Down’s syndrome?

A
  • Widely separated first + second toe (sandal gap)
  • Hypotonia
  • Single transverse palmar (simian) crease
832
Q

DOWN’S SYNDROME

What are some complications of Down’s syndrome?

A
  • LDs + delayed motor milestones
  • Complete AVSD
  • Atlantoaxial instability = risk of neck dislocation during sports
  • Hypothyroidism, duodenal atresia, Hirschsprung’s
  • Hearing + visual impairment, strabismus
  • Increased ALL + early-onset dementia
833
Q

DOWN’S SYNDROME

How is Down’s syndrome diagnosed?

A
  • Women offered antenatal screening/testing (combined test, CVS, amniocentesis)
  • Clinical suspicion + then FISH for Dx when born
834
Q

DOWN’S SYNDROME

What regular investigations are required for Down’s syndrome?

A
  • Regular thyroid checks (every 2y)
  • ECHO to Dx any cardiac defects
  • Regular audiometry + eye checks
835
Q

DOWN’S SYNDROME

What is the management of Down’s syndrome?

A

MDT –

  • Specialist Dr’s (CHD, hypothyroid)
  • Social services (social care + benefits)
  • Optician + audiologist
  • OT/physio/SALT
  • Additional support with educational needs
  • Charities like Down’s syndrome association
836
Q

PATAU’S SYNDROME

What is Patau’s syndrome?

A
  • Severe physical + mental congenital abnormalities due to trisomy 13
837
Q

PATAU’S SYNDROME

What are some clinical features of Patau’s syndrome?

A
  • Microcephalic, scalp lesions, small eyes + other eye defects
  • Cleft lip + palate
  • Polydactyly (think 13 fingers)
  • Cardiac + renal malformations
838
Q

EDWARD’S SYNDROME

What is Edward’s syndrome?

A
  • Trisomy 18, mostly F

- Severe psychomotor + growth retardation if survive 1st year of life

839
Q

EDWARD’S SYNDROME

What is the clinical presentation of Edward’s syndrome?

A
  • Prominent occiput
  • Small mouth + chin (micrognathia)
  • Low set ears
  • Flexed, overlapping fingers
  • Rocker-bottom feet (flat)
  • Cardiac + renal malformations
840
Q

EDWARD’S SYNDROME

For both Patau’s and Edward’s syndrome, what are the investigations?

A
  • Antenatal abnormalities detected on USS (foetal anomaly scan)
  • Prenatal Dx with amniocentesis or CVS via DNA PCR
  • Karyotyping genetic analysis confirms at birth
841
Q

FRAGILE X SYNDROME
What is fragile X syndrome?
What causes it?

A
  • Inherited condition, 2nd most common cause of LD
  • Trinucleotide expansion repeat of CGG caused by slipped mispairing = ≤44 normal, 60–200 = premutation carriers, >200 = fragile X
842
Q

FRAGILE X SYNDROME
What does fragile X result in?
What sex is affected by fragile X syndrome?

A
  • Mutation in fragile X mental retardation 1 (FMR1) gene on X chromosome
  • Inadequate FMRP which plays a role in cognitive development
  • Always males but females vary
843
Q

FRAGILE X SYNDROME

Why do females vary in how much they are affected by fragile X syndrome?

A
  • Spare copy on other X chromosome + reduced penetrance
  • Even with full mutation usually have fewer problems
  • Number of CGG repeats often increases as it’s inherited so caution in future
844
Q

FRAGILE X SYNDROME

What are some cognitive features of fragile X syndrome?

A
  • Intellectual disability
  • Delay speech + language
  • Delayed motor development (may be secondary to hypotonia)
  • Aggressive, hyperactive + poor impulse control
  • “Cocktail personality” = happy bouncy children
845
Q

FRAGILE X SYNDROME

What are some physical features of fragile X syndrome?

A
  • Long narrow face + large ears
  • Large testicles after puberty
  • Hypermobile joints (esp. hands)
  • Hypersensitivity to stimuli
846
Q

FRAGILE X SYNDROME

What is associated with fragile X syndrome?

A
  • Autism (up to 30%)
  • Seizures
  • ADHD
847
Q

FRAGILE X SYNDROME

What issues can fragile X premutation carriers suffer from?

A
  • Men can get Fragile X-associated tremor ataxia syndrome (FXTAS) = intention tremor, ataxia, memory + cognitive issues as adult, white matter changes on MRI
  • Females can get FMR1-related POI (endocrinologist input)
848
Q

FRAGILE X SYNDROME

What are the investigations for fragile X syndrome?

A
  • Carrier testing in pregnancy women, can have CVS or amniocentesis
  • FISH to look at content of cells, DNA testing once born to count # of CGG repeats
849
Q

FRAGILE X SYNDROME

What is the management of fragile X syndrome?

A
  • OT = daily tasks
  • Social services = social care + benefits
  • Special education = learning help
  • Challenging behaviours may benefit from risperidone.
  • PO lorazepam in acute agitation (after de-escalation strategies)
850
Q

TURNER’S SYNDROME

What is Turner’s syndrome?

A
  • Lack of a second X chromosome in a female leading to 45, XO
851
Q

TURNER’S SYNDROME

What is the clinical presentation of Turner’s syndrome?

A
  • Short stature, webbed neck, shield chest + widely spaced nipples (classic)
  • Delayed puberty, underdeveloped ovaries > primary amenorrhoea + infertility
  • Cubitus valgus
852
Q

TURNER’S SYNDROME

What are some complications of Turner’s syndrome?

A
  • Coarctation or bicuspid aortic valve
  • Increased risk of CHD > HTN, obesity
  • DM, osteoporosis, hypothyroidism
  • Recurrent otitis media + UTIs
  • Horseshoe kidney, susceptible to x-linked recessive conditions
853
Q

TURNER’S SYNDROME

What is the investigation of choice for Turner’s syndrome?

A
  • Karyotyping after clinical suspicion = 45XO
854
Q

TURNER’S SYNDROME

What is the management of Turner’s syndrome?

A
  • GH therapy to prevent short stature
  • Oestrogen + progesterone replacement to establish 2ary sex characteristics, regulate menstrual cycle + prevent osteoporosis
  • Fertility treatment like IVF
855
Q

DUCHENNE’S

What is Duchenne’s muscular dystrophy?

A
  • X-linked recessive chromosome 21 = gene deletion for dystrophin (connects muscle fibres to ECM)
856
Q

DUCHENNE’S

What is the clinical presentation of Duchenne’s muscular dystrophy?

A
  • Proximal muscle weakness from 5y
  • Delayed milestones
  • Waddling gait
  • Gower sign +ve
  • Calf pseudohypertrophy (replaced by fat + fibrous tissue)
857
Q

DUCHENNE’S

What is Gower’s sign?

A
  • Patient uses hands + arms to “walk” themselves upright from a squatting position due to lack of hip + thigh muscle strength
858
Q

DUCHENNE’S

What are some complications of Duchenne’s muscular dystrophy?

A
  • Wheelchair by 13y
  • Cardiac involvement (dilated cardiomyopathy) in teenagers
  • Resp involvement
  • Survival >30y unusual
859
Q

DUCHENNE’S

What are some investigations for Duchenne’s muscular dystrophy?

A
  • Clinical exam = Gower’s sign
  • Creatinine kinase markedly raised
  • Genetic testing to confirm
860
Q

DUCHENNE’S

What is the medical management of Duchenne’s muscular dystrophy?

A
  • Steroids (prednisolone) appear best treatment as improves QOL, longer life expectancy + decreased progression of heart problems
  • Manage congestive HF + arrhythmias with beta blocker, ACEi.
861
Q

DUCHENNE’S

What is the supportive therapy for Duchenne’s muscular dystrophy?

A
  • OT = aids + adaptations to help live with condition
  • Physio = prevent contractures, scoliosis correction
  • NIV for resp failure, gene therapy
862
Q

DUCHENNE’S
What is another type of muscular dystrophy very similar to Duchenne’s?
How does it differ?

A
  • Becker’s = some functional dystrophin produced

- Features similar but clinically progresses slower, average age of onset 11y with inability to walk from 20s

863
Q

KLINEFELTER SYNDROME

What is Klinefelter syndrome?

A
  • When a male has an additional X chromosome, making 47XXY
  • Rarely even more X chromosomes like 48XXXY (more severe)
  • Chief genetic cause of hypergonadotropic hypogonadism
864
Q

KLINEFELTER SYNDROME

What is the clinical presentation of Klinefelter syndrome?

A
  • Often appear normal until puberty
  • Taller height + wider hips
  • Delayed puberty (lack of pubic hair, poor beard growth)
  • Gynaecomastia, small testicles/penis, infertility
  • Weaker muscles, shyness, subtle learning difficulties (esp. speech + language)
865
Q

KLINEFELTER SYNDROME

What are some complications of Klinefelter syndrome?

A
  • Increased risk of breast cancer compared to other males
  • Osteoporosis
  • Diabetes
  • Anxiety + depression
866
Q

KLINEFELTER SYNDROME

What is the medical management of Klinefelter syndrome?

A
  • Monthly testosterone injections to promote sexual characteristics
  • Advanced IVF techniques for infertility
  • Breast reduction surgery for cosmesis
867
Q

KLINEFELTER SYNDROME

What is the MDT management for Klinefelter syndrome?

A
  • SALT
  • OT for day-day tasks
  • Physio to strengthen muscles + joints
  • Educational support if learning difficulties
868
Q

PRADER-WILLI SYNDROME

What is Prader-Willi syndrome?

A
  • Genetic imprinting disorder due to deletion of paternal chromosome 15 or maternal uniparental disomy
869
Q

PRADER-WILLI SYNDROME

What is the clinical presentation of Prader-Willi syndrome?

A
  • Constant, insatiable hunger > hyperphagia + obesity
  • Initially failure to thrive due to hypotonia
  • Small genitalia, hypogonadism + infertility
  • Narrow forehead, almond eyes, strabismus
  • LDs, MH issues
870
Q

PRADER-WILLI SYNDROME
What causes the constant, insatiable hunger in Prader-Willi?
How can this be managed?

A
  • Marked elevated levels of ghrelin (hormone associated with hunger)
  • Dietician = careful limitation of access to food to control weight (may have to lock food cupboards or fridge)
871
Q

PRADER-WILLI SYNDROME

What is the management of Prader-Willi syndrome?

A
  • GH to improve muscle development + body composition

- MDT = education support, social workers, psychologists/CAMHS, physio + OT

872
Q

ANGELMAN’S SYNDROME
What is Angelman’s syndrome?
What is it caused by?

A
  • Genetic imprinting disorder due to deletion of maternal chromosome 15 or paternal uniparental disomy
  • Loss of function of maternal UBE3A gene
873
Q

ANGELMAN’S SYNDROME

What is the clinical presentation of Angelman’s syndrome?

A
  • “Happy puppet” = unprovoked laughing, clapping, hand flapping, ADHD
  • Fascination with water
  • Epilepsy, ataxia, broad based gait
  • Severe LD, delayed development
  • Widely spaced teeth, microcephaly
874
Q

ANGELMAN’S SYNDROME

What is the management of Angelman’s syndrome?

A
  • Chromosomal analysis with FISH to detect deletions

- MDT approach = parental education, CAMHS, psychology, physio, SALT, OT

875
Q

NOONAN’S SYNDROME

What is Noonan’s syndrome?

A
  • Autosomal dominant condition with defect on chromosome 12, normal karyotype
876
Q

NOONAN’S SYNDROME

What is the clinical presentation of Noonan’s syndrome?

A
  • Short stature, webbed neck, widely spaced nipples (Male Turner’s)
  • Pectus excavatum, low set ears
  • Hypertelorism (wide space between eyes)
  • Downward sloping eyes with ptosis
  • Curly/woolly hair
877
Q

NOONAN’S SYNDROME

What are some complications of Noonan’s syndrome?

A
  • CHD = pulmonary valve stenosis
  • Cryptorchidism which can lead to infertility (fertility in women normal)
  • LDs, bleeding disorders (XI deficient)
878
Q

NOONAN’S SYNDROME

What is the management of Noonan’s syndrome?

A
  • MDT support

- Main complication CHD so may need surgical correction

879
Q

WILLIAM’S SYNDROME

What is William’s syndrome?

A
  • Random deletion of genetic material on one copy of chromosome 7 resulting in only single copy of genes from other chromosome 7
880
Q

WILLIAM’S SYNDROME

What is the clinical presentation of William’s syndrome?

A
  • Very friendly + sociable
  • Starburst eyes (star-pattern on iris)
  • Wide mouth, big smile + widely spaced teeth
  • Broad forehead, short nose + small chin
  • Mild LD, short stature
881
Q

WILLIAM’S SYNDROME

What are some complications of William’s syndrome?

A
  • Supravalvular aortic stenosis
  • ADHD
  • HTN + hypercalcaemia
882
Q

WILLIAM’S SYNDROME

What is the management of William’s syndrome?

A
  • MDT approach
  • ECHO + BP monitoring for complications
  • Low Ca2+ diet
  • FISH to confirm Dx
883
Q

MARFAN’S SYNDROME

What is Marfan’s syndrome?

A
  • Autosomal dominant connective tissue disorder caused by fibrillin deficiency
884
Q

MARFAN’S SYNDROME

What is the clinical presentation of Marfan’s?

A
  • Tall stature, long neck + limbs
  • Arachnodactylyl (long fingers) + hypermobility
  • Pectus carinatum or excavatum
  • Downward sloping palpebral fissures
  • High arch palate
885
Q

MARFAN’S SYNDROME

What are some complications of Marfan’s?

A
  • Mitral/aortic valve prolapse with regurgitation + aortic aneurysm due to aortic dilatation (#1 risk)
  • Joint dislocations + pain
  • Pneumothorax
  • Scoliosis
  • Lens dislocation in the eye
886
Q

MARFAN’S SYNDROME

How are the cardiac complications managed in Marfan’s?

A
  • Minimise BP + HR to minimise stress on heart
  • Lifestyle (avoid intense exercise, caffeine + other stimulants
  • Meds = beta-blockers, ACEi
  • Consider pregnancy carefully as increased risk of aortic aneurysm
  • May need surgery if aneurysm
887
Q

MARFAN’S SYNDROME

What is the management of Marfan’s?

A
  • Physio to strengthen joints + reduce Sx from hypermobility
  • Yearly ECHO + review by ophthalmologist to monitor for complications
  • Genetic counselling if considering having children
888
Q

EHLERS-DANLOS

What is Ehlers-Danlos syndrome?

A
  • AD connective tissue disorder due to elastin defect affecting type 3 collagen
889
Q

EHLERS-DANLOS

How does Ehlers-Danlos syndrome present?

A
  • Elastic, fragile skin
  • Joint hypermobility
  • Excessive bruising (weak collagen in vessels)
  • Brain aneurysms (SAH)
  • “Cigarette paper scars” = shiny, thin scars on skin
890
Q

DIGEORGE SYNDROME

What is DiGeorge syndrome?

A
  • Abnormal 5th branchial arch development > issues with heart, thymus + palate
891
Q

DIGEORGE SYNDROME

What is the clinical presentation of DiGeorge syndrome?

A

CATCH 22 –
- Cardiac Abnormalities
–TOF, coarctation, interrupted aortic arch
- Thymus hypoplasia (T cell dysfunction > primary immune deficiency
- Cleft palate
- Hypocalcaemia (hypoparathyroidism)
- 22 = chromosome 22q11 deletion

892
Q

DIGEORGE SYNDROME

What is the management for DiGeorge syndrome?

A
  • T-cell count
  • CXR to look for thymus
  • Genetic testing if CHD
893
Q

DEVELOPMENTAL STAGES
What is meant by…

i) median age?
ii) limit age?

A

i) When half a standard population of children reach that level of development
ii) Age a child is expected to have reached a milestone (often 2 standard deviations from the mean)

894
Q

DEVELOPMENTAL STAGES

How do the developmental milestones correspond with prematurity?

A
  • Age correct up to 2 years

- 9m born 2 months early should only be expected to be at developmental stage of 7m

895
Q

DEVELOPMENTAL STAGES

What is developmental surveillance?

A
  • Ongoing process of following child over time

- Can be incorporated into well-child checks, general physical exam or routine vaccine visits

896
Q

DEVELOPMENTAL STAGES

What are the 4 domains of development?

A
  • Gross motor
  • Fine motor + vision
  • Speech, hearing + language
  • Social, emotional + behavioural
897
Q

DEVELOPMENTAL STAGES
In terms of gross motor development, what would you expect for a…

i) newborn?
ii) 6w?
iii) 3m?
iv) 6m?

A

i) Limbs flexed, symmetrical posture, head lag on pulling up
ii) Lifts head when lying prone + moves it side-side
iii) Holds head upright when held sitting
iv) Rolls, sits without support (6m = rounded back, 8m = straight back)
– Limit age 9m

898
Q

DEVELOPMENTAL STAGES
In terms of gross motor development, what would you expect for a…

i) 8m?
ii) 10m?
iii) 12m?
iv) 15m?

A

i) Crawl (some may bottom shuffle or commando crawl)
ii) Cruise around furniture
iii) Walk unsteadily, broad gait hands apart
iv) Walks steadily
– Limit age 18m: ?Duchenne’s, ?hip issues, ?cerebral palsy

899
Q

DEVELOPMENTAL STAGES
In terms of gross motor development, what would you expect for a…

i) 2y?
ii) 3y?
iii) 4y?
iv) 5y?

A

i) Runs, kick ball (2.5y)
ii) Jump, stand on 1 leg briefly, pedal tricycle, stairs (1 foot up 2 down)
iii) Hops, balance on one leg for few seconds, stairs like adult
iv) Rides bike, skip on both feet

900
Q

DEVELOPMENTAL STAGES
In terms of fine motor + vision development, what would you expect for a…

i) 6w?
ii) 4m?
iii) 6m?

A

i) Turns head to follow object (fix + follow)
– Limit age 3m
iii) Reaches for toys
– Limit age 6m
iv) Palmar grasp of objects, transfers toys
– Limit age (toys) 9m

901
Q

DEVELOPMENTAL STAGES
In terms of fine motor + vision development, what would you expect for a…

i) 9m?
ii) 10m?
iii) 12m?

A

i) Early pincer grip
ii) Mature pincer grip
– Limit age 12m
ii) Index finger to point, casting bricks (disappear by 18m) + builds 2 brick tower

902
Q

DEVELOPMENTAL STAGES
In terms of fine motor + vision development, what would you expect for a…

i) 18m?
ii) 2y?
iii) 2.5y?
iv) 3y?

A

i) Crayon scribbles/3 brick tower
ii) Vertical line/6 brick tower
iii) Copies circle/8 brick tower or train with 4 carriages
iv) Circle (copies 6m before in all pencil skills)/copies or makes bridge

903
Q

DEVELOPMENTAL STAGES
In terms of fine motor + vision development, what would you expect for a…

i) 3.5y?
ii) 4y?
iii) 5?

A

i) Cross
ii) Square/copies or makes steps
iii) Triangle

904
Q

DEVELOPMENTAL STAGES
In terms of fine speech, hearing + language development, what would you expect for a…

i) 6w?
ii) 3m?
iii) 6m?

A

i) Startles at loud sounds, quietens to parent’s voice
ii) Cooing noises, vocalises alone or when spoken to “aa, aa”
iii) Turns head to sounds, understands “bye bye” + “no” (7m), monosyllabic babbles (consonants) “bababa”

905
Q

DEVELOPMENTAL STAGES
In terms of fine speech, hearing + language development, what would you expect for a…

i) 9m?
ii) 12m?
iii) 15m?
iv) 18m?

A

i) Responds to own name, imitates adult sounds “dada, mama”
ii) Understands names “drink”, 3 words
iii) Points to body parts on self (or doll at 18m)
iv) 6-10 words, understands nouns “show me the SPOON”

906
Q

DEVELOPMENTAL STAGES
In terms of fine speech, hearing + language development, what would you expect for a…

i) 2y?
ii) 2.5y?
iii) 3y?

A

i) Simple sentences “give me toy”, understands verbs “what do you DRAW with”
ii) Understands prepositions “put the spoon ON the step”
iii) Talks in short sentences, “what”, “who” questions, understands adjectives “show me the RED brick”

907
Q

DEVELOPMENTAL STAGES
In terms of speech, hearing + language development, what would you expect for a…

i) 3.5y?
ii) 4y?

A

i) Understands comparatives “which one is BIGGER”

ii) “Why”, “when”, “how” questions, understands complex instructions “before you put x in y give z to mummy”

908
Q

DEVELOPMENTAL STAGES
In terms of social, emotional + behavioural development, what would you expect for a…

i) 6w?
ii) 6–8m?
iii) 9m?
iv) 10–12m?

A

i) Smiles responsively
– Limit age 8w
ii) Puts food in mouth, shakes rattle
iii) Separation anxiety from parent, stranger fear (until 2y)
iv) Waves bye-bye, plays peek-a-boo, claps

909
Q

DEVELOPMENTAL STAGES
In terms of social, emotional + behavioural development, what would you expect for a…

i) 12m?
ii) 18m?
iii) 2y?

A

i) Drinks from cup with 2 hands
ii) Uses spoon to feed self
iii) Extends interest beyond parents (waves at strangers), parallel play (next to but not with children), symbolic play (copies actions like feeding a doll), dry by day, removes some clothes

910
Q

DEVELOPMENTAL STAGES
In terms of social, emotional + behavioural development, what would you expect for a…

i) 3y?
ii) 4y?
iii) 5y?

A

i) Seek out other children + play with them, turn-taking, follows simple rules, bowel control, fork + spoon
ii) Has best friend, bladder control, dresses self, imaginative play
iii) Knife + fork

911
Q

DEVELOPMENTAL STAGES

What are the primitive reflexes?

A
  • Moro (startle)
  • Grasp (palmar/plantar)
  • Sucking/rooting
  • Stepping
  • Asymmetrical tonic neck reflex
912
Q

DEVELOPMENTAL STAGES
Explain the following primitive reflexes…

i) moro?
ii) grasp?
iii) sucking/rooting?

A

i) Sudden extension of head causes symmetrical extension then flexion of limbs. Stops 3–4m
ii) Touch palm (palmar) or sole (plantar) + baby will grasp or curl toes. Stops 4–5m
iii) Head turns to stimulus when touched near mouth, assists in breastfeeding. Stops at 4m

913
Q

DEVELOPMENTAL STAGES
Explain the following primitive reflexes…

i) stepping?
ii) asymmetrical tonic neck reflex?

A

i) Stepping movements when held vertically + dorsum of feet touch surface. Stops at 2m
ii) Baby supine + head turned to one side > arm on that side stretches out + opposite flexes at elbow

914
Q

DEVELOPMENTAL STAGES

What are the postural reflexes?

A
  • Parachute
  • Postural support
  • Labyrinthine righting
  • Lateral propping
915
Q

DEVELOPMENTAL STAGES
Explain the following postural reflexes…

i) parachute?
ii) postural support?

A

i) Suspend baby prone + slowly lower head towards a surface > arms + leg extend in protective fashion
i) When held upright if feet touch a surface legs take weight + may push up like a bounce

916
Q

DEVELOPMENTAL STAGES
Explain the following postural reflexes…

i) labyrinthine righting?
ii) lateral propping?

A

i) Head moves in opposite direction to which body is tilted

ii) When sitting, arms extends on the side to which child falls as saving mechanism

917
Q

DEVELOPMENTAL STAGES

What is the relevance of the primitive and postural reflexes?

A
  • Persistence of primitive reflexes + lack of development of postural reflexes is the hallmark of UMN abnormality in the infant (cerebral palsy)
918
Q

DEVELOPMENTAL DELAY
In terms of developmental delay, define…

i) delay?
ii) learning difficulty?
iii) disorder?

A

i) Implies slow acquisition of all skills or of one particular field
ii) Cognitive, physical, both or relate to specific functional skills
iii) Maldevelopment of a skill

919
Q

DEVELOPMENTAL DELAY
In terms of developmental delay, define…

i) impairment?
ii) disability?
iii) disadvantage?

A

i) Loss/abnormality of physiological function or anatomical structure
ii) Any restriction or lack of ability due to the impairment
iii) Results from disability + limits fulfilment of a normal role

920
Q

DEVELOPMENTAL DELAY

In terms of developmental delay, what are the 3 broad aetiological categories?

A
  • Prenatal
  • Perinatal
  • Postnatal
921
Q

DEVELOPMENTAL DELAY

What are some prenatal causes of developmental delay?

A
  • Genetics (Down’s, fragile X)
  • Congenital hypothyroidism
  • Teratogens (alcohol + drug abuse)
  • Congenital infection (TORCH)
  • Neurocutaneous syndromes (tuberous sclerosis, neurofibromatosis)
922
Q

DEVELOPMENTAL DELAY

What are some perinatal causes of developmental delay?

A
  • Extreme prematurity (intraventricular haemorrhage)
  • Birth asphyxia (HIE)
  • Hyperbilirubinaemia
  • Hypoglycaemia
923
Q

DEVELOPMENTAL DELAY

What are some postnatal causes of developmental delay?

A
  • Infection (meningitis, encephalitis)
  • Anoxia (suffocation, near-drowning, seizures)
  • Head trauma (accidental or NAI)
  • Hypoglycaemia
924
Q

DEVELOPMENTAL DELAY

What are some risk factors for developmental delay?

A
  • Bio = prems, LBW, birth asphyxia, hearing/vision impairment
  • Environment = poverty, poor parental education, maternal substance abuse
925
Q

DEVELOPMENTAL DELAY
What is global developmental delay?
How does it present?
What are some causes?

A
  • Slow development in all developmental domains
  • Presents in first 2y of life
  • Down’s, fragile X, foetal alcohol syndrome, Rett syndrome + metabolic disorders
926
Q

DEVELOPMENTAL DELAY
What is abnormal gross motor development?
What are some causes?

A
  • Slow development in gross motor domain

- Cerebral palsy, ataxia, myopathy, spina bifida + visual impairment

927
Q

DEVELOPMENTAL DELAY
What is abnormal fine motor development?
What are some causes?

A
  • Slow development in fine motor domain

- Dyspraxia, cerebral palsy, muscular dystrophy, visual impairment, congenital ataxia (rare)

928
Q

DEVELOPMENTAL DELAY
What is abnormal speech or language development?
What are some causes?

A
  • Slow development in speech + language domain

- Specific social circumstances, hearing impairment, LD, neglect, autism + cerebral palsy, cleft lip/palate

929
Q

DEVELOPMENTAL DELAY
What are some specific social circumstances that can lead to abnormal speech or language development?
What is the management?

A
  • Exposure to multiple languages, sibling that do all the talking
  • Referral to SALT, audiology + health visitor with safeguarding if ?neglect
930
Q

DEVELOPMENTAL DELAY
What is personal + social delay?
What are some causes?

A
  • Slow development in personal + social domain

- Emotional + social neglect, parenting issues + autism

931
Q

DEVELOPMENTAL DELAY

What is the management of developmental delay?

A
  • Thorough Hx + exam (hearing + vision)
  • Cytogenic (chromosome karyotype)
  • Metabolic (TFTs, LFTs, U+Es, CK, lactate)
  • Infection (congenital infection screen)
  • Focal neuro (CT/MRI head, EEGs)
932
Q

CEREBRAL PALSY
What is cerebral palsy?
How does it progress?

A
  • Permanent disorder of movement + posture due to a non-progressive lesion of motor pathways in the developing brain
  • Sx develop over time as the brain starts to develop
933
Q

CEREBRAL PALSY

What are the causes of cerebral palsy?

A
  • Antenatal (80%) = genetics, congenital malformations or infections
  • Intrapartum (10%) = hypoxic-ischaemic injury
  • Postnatal (10%) = IV haemorrhage (prems), meningitis/encephalitis, trauma (NAI), hydrocephalus, kernicterus
934
Q

CEREBRAL PALSY

What are some early features of cerebral palsy?

A
  • Abnormal limb/trunk tone + posture with delayed motor milestones
  • Feeding issues > oromotor incoordination, slow feeding, gagging + vomiting
  • Abnormal gait when walking achieved
  • Hand preference before 12m + primitive reflexes after 6m
935
Q

CEREBRAL PALSY

What are some non-motor presentations of cerebral palsy?

A
  • LDs, epilepsy, squints + hearing impairment

- Joint contractures, hip subluxation + scoliosis

936
Q

CEREBRAL PALSY

What are the 4 broad types of cerebral palsy?

A
  • Spastic (pyramidal, 70%)
  • Ataxic (10%)
  • Dyskinetic (athetoid, 10%)
  • Mixed (10%)
937
Q

CEREBRAL PALSY
What is affected in spastic cerebral palsy?
What are the main features of spastic cerebral palsy?

A
  • UMN pathways damaged (pyramidal or corticospinal) so UMN signs
  • Limb tone persistently increased (spasticity, velocity-dependent)
  • Brisk deep tendon reflexes + extensor plantars (+ve Babinski)
  • Increased limb tone may suddenly yield under pressure (clasp knife)
938
Q

CEREBRAL PALSY

What are the 3 subtypes of spastic cerebral palsy?

A
  • Hemiplegic
  • Quadriplegic
  • Diplegic
939
Q

CEREBRAL PALSY

What is spastic hemiplegic cerebral palsy?

A
  • Unilateral involvement of arm + leg (arm worse)
  • Face spared, fisting of affected hand, flexed arm, tip-toe walking
  • Presents 4–12m, normal birth with no HIE
940
Q

CEREBRAL PALSY

What is spastic quadriplegic cerebral palsy?

A
  • All 4 limbs, trunk involved with tendency to opisthotonus (extensor posturing), poor head control + low central tone
  • More severe > associated with seizures, microcephaly, low IQ
  • May have Hx of HIE
941
Q

CEREBRAL PALSY

What is spastic diplegic cerebral palsy?

A
  • All 4 limbs (legs worse)
  • Hand function may be relatively normal but walking abnormal
  • Linked with preterm birth (periventricular brain damage)
942
Q

CEREBRAL PALSY

What is ataxic cerebral palsy?

A
  • Cerebellum affected > cerebellar signs
  • Early trunk + limb hypotonia (symmetrical)
  • Poor balance + delayed motor development
  • Incoordination, ataxic gait + intention tremor
  • Mostly genetics, can be acquired brain injury
943
Q

CEREBRAL PALSY
What is dyskinetic cerebral palsy?
What are the features?

A
  • Intellect unimpaired as basal ganglia affected (extra-pyramidal)
  • Chorea, athetosis, dystonia
  • Muscle tone is variable (floppiness), involuntary movements, poor trunk control
  • Associated with kernicterus + HIE
944
Q

CEREBRAL PALSY
What is meant by…

i) chorea?
ii) athetosis?
iii) dystonia?

A

i) Irregular, sudden + brief non-repetitive movements
ii) Slowly writhing movements distally like fanning fingers
iii) Twisting appearance from simultaneous contraction of agonist + antagonist muscles

945
Q

CEREBRAL PALSY

What are the investigations of cerebral palsy?

A
  • Clinical Dx (assess posture, pattern of tone, hand function + gait)
  • Functional ability judged by Gross Motor Function Classification System
  • MRI head to identify cause but not necessary for Dx
946
Q

CEREBRAL PALSY

What are the stages of the Gross Motor Function Classification System?

A
  • I = walks without limitation
  • II = with limitation
  • III = handheld mobility device
  • IV = III with limitation
  • V = wheelchair
947
Q

CEREBRAL PALSY

What is the MDT approach of cerebral palsy?

A
  • Drs
  • Physio (tone + posture issues)
  • SALT (swallowing issues)
  • OT (home adjustments, help with ADLs)
  • School (special educational needs)
  • Social workers (benefits)
  • Dietitians (?PEG feeding)
948
Q

CEREBRAL PALSY

What is the management of spasticity in cerebral palsy?

A
  • PO or IT baclofen
  • PO diazepam
  • Botox injection
  • Orthopaedic surgery
949
Q

VISION

What is vision like in children?

A
  • Visual acuity is poor in the newborn but increases to adult levels by age 4
950
Q

VISION

What are some causes of severe visual impairment?

A

Genetic –

  • Congenital cataracts
  • Albinism
  • Retinal dystrophy
  • Retinoblastoma
951
Q

VISION

How might visual impairments present in children?

A
  • Loss of red reflex (i.e. cataract)
  • White reflex in pupil (retinoblastoma, cataract, retinopathy of prematurity)
  • Not smiling responsively by 6w
  • Lack of eye contact with parents
  • Random eye movements
  • Failure to fix + follow
  • Nystagmus, squint, photophobia
952
Q

VISION

When is vision screened in children?

A
  • Pre-school + school entry
953
Q

STRABISMUS
What is strabismus?
Is it normal?

A
  • Misalignment of visual axis (squint)

- Transient neonatal misalignments common in first few months when looking at near objects, reduce by 2m, gone by 12w

954
Q

STRABISMUS

What are the 2 divisions of strabismus?

A
  • Concomitant (non-paralytic, common) = often refractive error, differences in control of extra-ocular muscles
  • Paralytic (rare) = paralysis in ≥1 of the extra-ocular muscles (if rapid onset may be sinister SOL)
955
Q

STRABISMUS

What is the difference between a manifest and latent strabismus?

A
  • Manifest = present when views a target binocularly

- Latent = binocular vision interrupted

956
Q

STRABISMUS
What are the different types of manifest?
How does this compare to latent?

A
  • Esotropia = inward moving (cross-eyed)
  • Exotropia = outward moving
  • Hypertropia = upward moving
  • Hypotropia = downward moving
  • Latent is same but -phoria not -tropia (esophoria etc)
957
Q

STRABISMUS

What is the pathophysiology of strabismus?

A
  • When eyes not aligned the images on retina do not match + pt will experience diplopia
  • When this occurs in paeds, before the eyes have fully established their connections within the brain, the brain will cope by reducing the signal from the less dominant eye
958
Q

STRABISMUS

What is a complication of strabismus?

A
  • One eye used to see (dominant) + one eye ignored (lazy)

- If untreated lazy eye becomes progressively more disconnected from brain over time + problem worsens (amblyopia)

959
Q

STRABISMUS

What causes strabismus?

A
  • Multifactorial (combination of hereditary + refractive errors)
  • Idiopathic
  • Secondary to vision loss
  • Higher incidence in cerebral palsy
  • SOL (retinoblastoma) rare but suspect if sudden onset + other neurology
960
Q

STRABISMUS

What are 3 types of refractive errors?

A
  • Hypermetropia = long-sightedness (common, hard to see nearby objects)
  • Myopia = short-sightedness (uncommon, less likely to cause permanent visual damage)
  • Amblyopia = defective visual acuity that persists after correction of refractive error + removal of any pathology (lazy eye)
961
Q

STRABISMUS
How does amblyopia present?
What are some causes?

A
  • Often unilateral, potentially permanent loss of visual acuity in an eye that has not received a clear image
  • Any interference with visual development > squint, refractive error, ptosis, cataracts
962
Q

STRABISMUS

What are some investigations for strabismus?

A
  • (Single) cover test for manifest/tropias
  • Cover-uncover (alternate cover) test for latent/phorias
  • Corneal light reflex test (Hirschberg’s test)
  • Important to assess visual acuity + ocular movements to exclude paralytic
963
Q

STRABISMUS

Explain the cover test

A
  • Cover eye + observe the other eye for a shift in fixation
  • Direction of shift indicates the type of tropia
  • Close (33cm) + distant (6m) as some squints only present at one distance
964
Q

STRABISMUS

Explain the cover-uncover test

A
  • Helps determine if misalignment is a tropia or phoria
  • Occlude eye + then quickly uncover, observing the occluded eye for refixation movement
  • A phoria will shift back to being straight, direction is opposite to the movement (shifts lateral = esophoria)
965
Q

STRABISMUS

Explain the corneal light reflex test

A
  • Shine a pen torch in the eyes

- Reflection of light should appear in the same position in both eyes

966
Q

STRABISMUS

What is the management of amblyopia?

A
  • Early Tx = better to avoid damage, <7y ideal
  • Refractive adaptation = wear appropriate glasses for 16-18w
  • Occlusion of ‘good’ eye (part/full time) to force weaker eye to develop
  • Atropine drops in better eye causing vision in that eye to be blurred
967
Q

STRABISMUS

What are the aims of strabismus management?

A
  • Restore comfortable binocular single vision
  • Eliminate diplopia
  • Restore good alignment of the eyes
968
Q

STRABISMUS

What are some conservative techniques for strabismus?

A
  • Glasses/contact lenses
  • Prisms for diplopia
  • Orthoptic exercises to improve control over eye muscles
969
Q

STRABISMUS

What medical treatment can be given in strabismus?

A
  • Botox injections = paralyse the muscle that is pulling the eye in a certain direction
  • Esotropia = MR, exotropia = LR
  • May need repeat injections as effects wear off, ketamine anaesthesia
970
Q

STRABISMUS

What surgery may be offered in strabismus?

A
  • Strengthening procedure = resection of muscle on side eye does not face
  • Weakening procedure = recession of muscle on side the eye goes towards
  • Esotropia = bilateral MR recession or MR recession + LR resection
  • Exotropia = bilateral LR recession or LR recession + MR resection
971
Q

HEARING

What are the 3 types of hearing loss?

A
  • Sensorineural = nerve damage (progressive, never reversible)
  • Conductive = obstruction in ear canal which prevents sound from getting through, bone conduction can still transmit sound (often reversible)
  • Mixed
972
Q

HEARING

What are some causes of conductive hearing loss?

A
  • # 1 = congestion behind eardrums (viral URTI)
  • Glue ear, ear wax, middle ear infection, perforated ear drum
  • Structural abnormality of the outer ear (syndromes)
973
Q

HEARING

What are some causes of sensorineural hearing loss?

A
  • Genetic or syndromes
  • Perinatal (trauma, infection, hypoxia)
  • Congenital infections (rubella, CMV)
  • Meningitis (pneumococcus can cause ossification of cochlear)
974
Q

HEARING
What are some risk factors for…

i) conductive hearing loss?
ii) sensorineural hearing loss?

A

i) Down’s syndrome, craniofacial syndromes + cleft palate

ii) Premature, FHx + consanguinity

975
Q

HEARING

How might hearing loss present?

A
  • Parental concern
  • Incidental finding on screening
  • Problems with speech, behaviour or education (ignoring calls or sounds)
976
Q

HEARING

What are some behavioural changes that might occur in hearing loss?

A
  • Sits near TV + volume loud
  • Misunderstands/slow in responding or answers incorrectly
  • Soft/fuzzy speech
  • Does not turn immediately when named called
977
Q

HEARING

What 2 types of hearing tests are part of the newborn hearing screening programme (NHSP)?

A
  • Evoked otoacoustic emission (EOAE)

- Auditory brainstem response (ABR) audiometry if EOAE fails

978
Q

HEARING
What is evoked otoacoustic emission?
What are the pros?
What are the cons?

A
  • Earphone produces sound which evokes an echo from ear if cochlear function normal
  • Simple + quick
  • Misses auditory neuropathy, cochlear test not hearing, high false +ve in first 24h
979
Q

HEARING
What is auditory brainstem response audiometry?
What are the pros?
What are the cons?

A
  • Computer analysis of EEG waveforms evoked in response to auditory stimuli
  • Screens hearing pathway ear>brainstem, low false +ve rate
  • Affected by movement (time consuming), electrodes on infant’s head, complex computerised gear
980
Q

HEARING

What testing might be done in children 6–9m?

A
  • Distraction testing
  • Relies on baby locating + turning appropriately to high + low frequency sounds out of field of vision
  • 2x trained staff
981
Q

HEARING

What testing might be done in children 10–18m?

A
  • Visual reinforcement audiometry
  • Hearing thresholds are established using visual rewards (illumination of toys) to reinforce the child’s head turn to stimuli of different frequencies
  • First test that does single ear measures
982
Q

HEARING
What tests are done at…

i) >2y?
ii) >2.5y?
iii) 4y?

A

i) Performance testing = child performs an action when hear a noise
ii) Speech discrimination tests (McCormick toy test)
iii) Pure tone audiometry at school entry = child responds to pure tone stimulus with headphones

983
Q

HEARING

What are 3 main investigations in hearing?

A
  • Rinne’s test (mastoid then external acoustic meatus)
  • Weber’s (forehead in midline)
  • Audiograms
984
Q

HEARING

What does Rinne’s test show you?

A
  • Normal = louder at EAM
  • Conductive = louder on mastoid
  • Sensorineural = both decreased
985
Q

HEARING

What does Weber’s test show you?

A
  • Normal = vibrations equal in both ears
  • Conductive = louder in abnormal ear
  • Sensorineural = louder in normal ear
986
Q

HEARING

What do audiograms show you?

A
  • Frequency (Hz, x) low>high + volume (dB, y) bottom = loud
  • Anything above 20dB line is normal
  • Sensorineural = both air + bone conduction impaired (>20dB)
  • Conductive = only air conduction impaired (>20dB), bone normal
  • Mixed = both impaired but air worse (>15dB difference)
987
Q

HEARING

What are some complications of hearing issues?

A
  • Developmental delay (speech + language)
  • Social/behavioural problems (too loud or too quiet)
  • Impact on education, friendships/social life + psychologically
988
Q

HEARING

What is the management of conductive hearing loss?

A
  • Most self-limiting so watch + wait
  • ENT referral for insertion of grommets to help drain excess fluid if necessary
  • Temporary hearing aids or if permanent cause
989
Q

HEARING

What is the management of sensorineural hearing loss?

A
  • Hearing aids > aim to improve hearing so as much speech audible as possible
  • Cochlear implants reserved for profound hearing loss (>95dB), high frequency, bilateral hearing loss or meningitis related
990
Q

HEARING

What is the management of mixed hearing loss?

A
  • Correct conductive problem first + then offer hearing aid
991
Q

DEVELOPMENT MDT

What is the child development service?

A
  • MDT + multi-agency (health, social services, education) with aim of providing coordinated service with good inter-agency liaison to meet the functional needs of the child
992
Q

DEVELOPMENT MDT

What is the role of child developmental services?

A
  • Liaise between home, school + the child’s care needs
  • Assess child’s functional ability + need
  • Provide therapy + psychosocial support where needed
  • Ensure health needs of child are met
993
Q

DEVELOPMENT MDT

Name some members of the child development services MDT and their role

A
  • Paediatrician = Ax, Ix + Dx, continuing medical Mx, coordination
  • Physio = balance + mobility, prevent contractures, mobility aids
  • OT = ADLs, house adaptations
  • SALT = feeding, speech + language development
  • Dietician = advice on nutrition
  • Social worker = benefits
  • Psychologist = cognitive testing, behaviour management
  • Specialist health visitor + key workers = coordinate MDT + multi-agency care
994
Q

SEIZURES

What is a seizure?

A
  • Sudden disturbance of neurological function due to excessive neuronal discharge
995
Q

SEIZURES

What are some causes of seizures?

A
  • Epilepsy
  • Febrile convulsions
  • Metabolic (hypoglycaemia, hypocalcaemia)
  • Head trauma, infection (meningitis, encephalitis)
  • Toxins, iatrogenic (post-brain surgery)
996
Q 
FEBRILE CONVULSIONS
What is a febrile convulsion?
When does it happen?
What is the epidemiology?
What are the 3 types?
A
  • Seizures provoked by a fever in otherwise normal children
  • Usually early in viral infections as temperature rises rapidly
  • 3% of children, 6m–6y + often genetic predisposition
  • Simple, complex or febrile status epilepticus
997
Q

FEBRILE CONVULSIONS

What is a simple febrile convulsion?

A
  • Generalised (tonic-clonic) seizure
  • <15m
  • Typically no recurrence within 24h
  • Recovery within 1h
998
Q

FEBRILE CONVULSIONS
What is a complex febrile convulsion?
What is a febrile status epilepticus?

A
  • Focal seizure
  • 15–30m
  • May recur within 24h
  • Febrile status epilepticus if >30m
999
Q

FEBRILE CONVULSIONS

What are some complications of febrile convulsions?

A
  • Usually no lasting damage
  • 1 in 3 will have another febrile convulsion
  • 2-7% will develop epilepsy after simple, 10–20% after complex
1000
Q

FEBRILE CONVULSIONS

What is the management of febrile convulsions?

A
  • Period of observation, paeds referral if first seizure or complex
  • Antipyretics have NOT shown to reduce risk of recurrence
  • Education = stay with them, ensure safe, nothing in mouth, call 999 if lasts >5m, teach how to use PR diazepam or buccal midazolam if Hx of prolonged seizures (>5m)
1001
Q

EPILEPSY
What is epilepsy?
What are the 2 phases?

A
  • Recurrent tendency to have unprovoked seizures
  • Ictal = early phase w/ positive Sx such as excessive activity (jerky actions)
  • Post-ictal = later phase w/ negative Sx such as weakness, drowsiness
1002
Q

EPILEPSY

What are some causes of epilepsy?

A
  • 2/3rd idiopathic, FHx, alcohol/drugs (+ withdrawal)
  • Brain injury (hypoxia, trauma, surgery)
  • SOL (tumour, abscess)
  • CNS infection (meningitis, encephalitis)
1003
Q

EPILEPSY

What are the two different types of seizures?

A
  • Focal/partial seizures = arise from one area of cortex or part of one hemisphere
  • Generalised = discharge arises from both hemispheres
1004
Q

EPILEPSY

What are the 3 types of partial seizures?

A
  • Simple-partial = consciousness + awareness
  • Complex-partial = without consciousness + awareness
  • Secondary generalised = seizures start in one hemisphere but then spread to both (focal>general)
1005
Q

EPILEPSY
How would a partial seizure present in…

i) frontal lobe?
ii) temporal lobe?
iii) parietal lobe?
iv) occipital lobe?

A

i) Strange smells, motor movements, Jacksonian march
ii) Déjà/jamais-vu, automatisms (chewing, lip smacking), hallucinations, aura/sensations, amnesia
iii) Contralateral altered sensations (tingling, electric-shock)
iv) Flashing lights, eyelid fluttering, eye movements

1006
Q

EPILEPSY
What is…

i) Jacksonian march?
ii) Todd’s paresis?

A

i) Motor twitch starts on one side of body then “marches” over a few seconds to affect larger parts of both like entire hand, foot + may generalise
ii) Focal weakness in a part or all of the body after a seizure

1007
Q

EPILEPSY

What are the 4 main types of generalised seizures?

A
  • Absence seizures
  • Tonic-clonic seizures
  • Myoclonic seizures
  • Atonic (akinetic) seizures “drop attacks”
1008
Q 
EPILEPSY
What are absent seizures?
Epidemiology?
Investigation feature?
Prognosis?
A
  • Brief (<30s) pauses where activity stops (still, silent, stares), may have slight eyelid flickering, can be precipitated by hyperventilation
  • Onset 4-8y, F>M, may progress tonic-clonic later
  • EEG = 3hz generalised spike, symmetrical
  • Good, 90% seizure free in adolescence
1009
Q

EPILEPSY

What is a tonic-clonic seizure?

A
  • Tonic = vague warning, rigidity, falls + may make sound, LOC + can stop breathing
  • Clonic = convulsions, bilateral rhythmic muscle jerks, irregular breathing, may tongue bite (lateral) or urinary incontinence
  • Post-ictal = drowsy, confused, irritable or depressed
1010
Q

EPILEPSY

What is a myoclonic seizure?

A
  • Brief, sudden muscle contractions like jerk of limb, face or trunk
  • Usually remains awake, can occur in juvenile myoclonic epilepsy
  • Can be physiological (hiccups, sleep myoclonus)
1011
Q

EPILEPSY

What is an atonic (akinetic) seizure/drop attack?

A
  • Brief, sudden loss of muscle tone causing a fall but no LOC
  • Often begin in childhood, ?indicate Lennox-Gastaut syndrome
1012
Q

EPILEPSY

What are 4 epilepsy syndromes seen in children?

A
  • Infantile spasms (West’s syndrome)
  • Lennox-Gastaut syndrome
  • Juvenile myoclonic epilepsy
  • Benign Rolandic epilepsy = M>F, paraesthesia (unilateral face, tongue, twitching) during sleep, EEG shows centrotemporal focal spike waves
1013
Q

EPILEPSY
Who is affected by infantile spasms?
What is the management?

A
  • Early life (4-6m), M>F, often secondary to serious neuro abnormality (tuberous sclerosis, encephalitis, birth asphyxia)
  • Vigabatrin or corticosteroids (poor prognosis)
1014
Q

EPILEPSY

What are the 3 components to infantile spasms?

A
  • Violent flexor spasms of head, trunk + limbs followed by extension of arms (salaam spasms) for 1-2s, can repeat up to 50 times
  • Progressive mental handicap
  • EEG shows hypsarrhythmia
1015
Q

EPILEPSY
What is Lennox-Gastaut syndrome?
How does it present?
Management?

A
  • Can be extension of infantile spasms, 1-5y
  • Atypical absences, falls, jerks + 90% have mod-severe mental handicap
  • EEG shows slow spike, ketogenic diet may help
1016
Q

EPILEPSY
Who is juvenile myoclonic epilepsy more common in?
How does it present?
Management?

A
  • Teens, F>M
  • Infrequent generalised seizures (often morning), daytime absences, sudden shock-like myoclonic seizures (can happen before seizures)
  • Good response to valproate
1017
Q

EPILEPSY

What are some investigations for epilepsy?

A
  • Mostly clinical Dx + witness Hx crucial
  • Exclude organic causes with FBC, U+E, LFTs, glucose, ECG
  • EEG, often sleep deprived or hyperventilate to provoke
  • ?Neuroimaging (CT/MRI head) if focal neurology + concerns of SOL
1018
Q

EPILEPSY
What is the general management of epilepsy?
What are the treatment principles?

A
  • Ensure little harm, maintain airway, do not restrain

- Aim for monotherapy, maximum tolerated dose before changing or adding drugs, avoid abrupt withdrawal

1019
Q

EPILEPSY

What is the management of generalised seizures?

A
  • 1st line = sodium valproate

- 2nd line = lamotrigine, carbamazepine (TC), clonazepam (myoclonic)

1020
Q

EPILEPSY

What is the management of focal seizures?

A
  • 1st line = carbamazepine or lamotrigine

- 2nd line = levetiracetam or valproate

1021
Q

EPILEPSY

What is the management of absence seizures?

A
  • Ethosuximide or sodium valproate
1022
Q

EPILEPSY
What is a note about treatment with carbamazepine?
What last line treatments may be used in epilepsy?

A
  • Can exacerbate absent + myoclonic seizures

- Vagal stimulation, surgery (hemispherectomy, non-dominant lobectomy)

1023
Q

‘FUNNY TURNS’
In terms of reflex anoxic seizures…

i) triggers?
ii) cause?
iii) presentation?
iv) investigation?

A

i) Pain or discomfort, cold food, fright (emotions)
ii) Cardiac asystole from vagal inhibition to heart (syncopal episode)
iii) Child becomes pale + falls to floor, hypoxia may induce generalised tonic-clonic seizure which is brief + child RAPIDLY recovers
iv) Ocular compression under controlled conditions often lead to asystole + paroxysmal slow-wave discharge on EEG

1024
Q

‘FUNNY TURNS’
In terms of breath holding attacks…

i) triggers?
ii) presentation?
iii) associations?

A

i) Upset, worked up or angry
ii) Child cries, holds their breath + goes cyanotic, sometimes brief LOC but RAPID recovery
iii) Linked with Fe anaemia so treating as such may minimise further ones

1025
Q

‘FUNNY TURNS’

What are some other causes of ‘funny turns’?

A
  • Syncope
  • Migraine
  • Benign paroxysmal vertigo
  • Cardiac arrhythmias
  • NEAD
  • Fabricated by parent or child
1026
Q

‘FUNNY TURNS’
What is the presentation of…

i) syncope?
ii) migraine?
iii) benign paroxysmal vertigo?

A

i) Clonic movements may occur, triggers like hot/stuffy, standing long
ii) Can happen ±headache, unsteadiness/light headedness with other classic migraine Sx
iii) Nystagmus, unsteady, headache

1027
Q

DISORDERS
Name 2 neurocutaneous disorders
Mode of inheritance?

A
  • Neurofibromatosis (type 1 + 2) + tuberous sclerosis

- AD

1028
Q

NEUROFIBROMATOSIS

What is the clinical presentation of neurofibromatosis 1?

A
  • No intellectual problems but lots of skin involvement
  • > 5 café-au-lait spots
  • Axillary freckling in skin folds
  • Iris hamartomas, scoliosis + pheochromocytomas
  • Peripheral neurofibromas
1029
Q

NEUROFIBROMATOSIS

What is the clinical presentation of neurofibromatosis 2?

A
  • Hearing problems with no skin involvement

- Bilateral vestibular schwannomas > sensorineural hearing loss then tinnitus + vertigo

1030
Q

TUBEROUS SCLEROSIS

What are the cutaneous features of tuberous sclerosis?

A
  • Hypopigmented ‘ash-leaf’ spots which fluoresce under UV light
  • Roughened (Shagreen) patches of skin over lumbar spine
  • Angiofibromas (butterfly distribution over nose)
  • Subungual fibromata
1031
Q

TUBEROUS SCLEROSIS
What are some other features of tuberous sclerosis?
Investigations?

A
  • Neuro = epilepsy (infantile spasms or partial), developmental delay + intellectual impairment
  • Retinal hamartomas, polycystic kidneys, rhabdomyomata of heart
  • CT/MRI will detect calcified subependymal nodules + tubers from 2nd year of life
1032
Q

NEURAL TUBE DEFECTS
What are neural tube defects?
Risks?
Associations?

A
  • Failure of normal fusion of the neural plate to form neural tube during first 28d pregnancy
  • 10x increased risk of second foetus having similar problems
  • Insufficient folic acid + AEDs
1033
Q

NEURAL TUBE DEFECTS

What are 5 different types of neural tube defects?

A
  • Spina bifida occulta (#1)
  • Meningocele
  • Myelomeningocele (most severe)
  • Anencephaly
  • Encephalocele
1034
Q

NEURAL TUBE DEFECTS
What is spina bifida occulta?
Presentation?
Management?

A
  • Failure of fusion of the vertebral arch, often incidental XR finding
  • Site may have identifiable birthmark, lipoma or hair patch (lumbar)
  • Neurosurgery
1035
Q

NEURAL TUBE DEFECTS

What is meningocele?

A
  • Sac of fluid protruding spinal canal (without neural tissue), not exposed
1036
Q

NEURAL TUBE DEFECTS
What is a myelomeningocele?
How may it present?

A
  • Sac of fluid protruding spinal canal (with neural tissue), open lesion
  • Paralysis of legs, dislocation of hip + talipes, sensory loss, neuropathic bladder + bowel, scoliosis + hydrocephalus from Chiari malformation
1037
Q

NEURAL TUBE DEFECTS
How does Chiari malformation lead to hydrocephalus?
What is the management of myelomeningocele?

A
  • Herniation of cerebellar tonsils + brainstem > foramen magnum = disrupt CSF flow
  • Close back lesion, physio for paralysis, ?indwelling catheter, shunt
1038
Q

NEURAL TUBE DEFECTS
What is anencephaly?
Management?

A
  • Failure to develop cranium + brain, stillborn or die rapidly
  • Antenatal USS Dx with TOP usually performed
1039
Q

NEURAL TUBE DEFECTS
What is encephalocele?
Management?

A
  • Brain + meninges extrude through midline skull defect

- Surgical correction but often underlying cerebral malformations

1040
Q

NEURAL TUBE DEFECTS

What can be used as prophylaxis for neural tube defects?

A
  • Folic acid (0.4mg for normal pregnancies, 5mg if high risk
1041
Q

DIABETES MELLITUS

What is the physiology of insulin?

A
  • Lowers blood glucose by stimulating uptake from blood into muscle, kidney + fat cells as well as targeting the liver to convert glucose to glycogen
1042
Q

DIABETES MELLITUS

What is the pathophysiology of insulin in T1DM?

A
  • Absolute insulin deficiency means that glycogenolysis, gluconeogenesis + lipolysis are not suppressed + there is reduced peripheral glucose uptake > hyperglycaemia
1043
Q

DIABETES MELLITUS

What causes T1DM?

A
  • Autoimmune destruction of the pancreatic beta cells

- Associated with HLA-DR3 + HLA-DR4 genetics + environment

1044
Q

DIABETES MELLITUS

What is the clinical presentation of T1DM?

A
  • Can be incidental finding
  • Polydipsia, polyuria (+ nocturia, weight loss, fatigue
  • Less commonly secondary enuresis or recurrent infections
  • Left untreated > DKA
1045
Q

DIABETES MELLITUS

How can T1DM be diagnosed?

A
  • Symptomatic = 1 reading, asymptomatic = 2 separate readings
  • Fasting glucose ≥7.0mmol/L
  • Random glucose ≥11.1mmol/L (or 2h after 75g OGTT)
  • HbA1c ≥48mmol/mol (long-term impression of control)
1046
Q

DIABETES MELLITUS

What are the subthreshold measurements for TD1M?

A
  • Impaired fasting glucose 6.1-6.9mmol/L
  • Impaired glucose tolerance 7.8-11.1mmol/L
  • Pre-diabetes 42-47mmol/mol (HbA1c)
1047
Q

DIABETES MELLITUS
What can cause poor glycaemic control in T1DM?
What is the impact?

A
  • Many factors can increase glucose (sex hormones at puberty, stress, illness, food) or decrease (insulin, exercise, alcohol, some drugs)
  • May have hyperglycaemia + need insulin dose increased or hypoglycaemia or worst case DKA
1048
Q

DIABETES MELLITUS

What are some complications of T1DM?

A
  • Macrovascular
  • Microvascular
  • Increased risk of illnesses (UTIs, pneumonia, fungal infections)
  • Screen for other autoimmune conditions (TFTs + TPO Ab, anti-TTG, insulin Abs)
1049
Q

DIABETES MELLITUS

What are some macrovascular complications of T1DM?

A
  • IHD
  • Peripheral ischaemia > poor healing ulcers + “diabetic foot”
  • Stroke + HTN (check BP annually)
1050
Q

DIABETES MELLITUS

What are some microvascular complications of T1DM?

A
  • Peripheral neuropathy = good foot care with treating infections early
  • Retinopathy = annual check-up after 5y of diabetes or after puberty
  • Renal disease (esp. glomerulosclerosis) = annual screening for microalbuminuria
1051
Q

DIABETES MELLITUS

What is the main conservative management for T1DM?

A
  • Diet = reduced refined carbs, carb counting, high fibre
  • Adjust diet + insulin for exercise, ‘sick-day rules’
  • BMs = capillary BM to adjust insulin or continuous glucose monitoring like FreeStyle Libre (lag in results mean confirm hypo with capillary BM)
  • Recognising + treating hypos
  • Support groups (Diabetes UK)
1052
Q

DIABETES MELLITUS
What is the mainstay medical management of T1DM?
What regime is often used?

A
  • Insulin
  • Basal bolus = basal > long-acting insulin like Lantus given in evening as background, bolus > short-acting insulin like Actrapid before meals according to carb counting
1053
Q

DIABETES MELLITUS
What may be offered to individuals who struggle to control their blood sugars with basal bolus regime?
What are the pros/cons?

A
  • Insulin pump to continuously infuse insulin at different rates
  • Better at glucose control, more eating flexibility + less injections
  • But attached constantly, can have blockages + small risk of infection
1054
Q

DIABETES MELLITUS

What are some negatives about insulin therapy in general?

A
  • Lipohypertrophy (rotate site)
  • Risk of hypoglycaemia
  • Weight gain
1055
Q

DIABETES MELLITUS
When would you suspect T2DM in children?
How may it present?

A
  • V uncommon, suspect if FHx, from Indian subcontinent + severely obese
  • Can have signs of insulin resistance (acanthosis nigricans, skin tags or PCOS)
1056
Q

DIABETIC KETOACIDOSIS

What is the pathophysiology of diabetic ketoacidosis (DKA)?

A
  • Absence of insulin leads to uncontrollable lipolysis

- Increased production of free fatty acids which are oxidised in the liver to ketone bodies leading to ketoacidosis

1057
Q

DIABETIC KETOACIDOSIS

How does the body respond to ketoacidosis?

A
  • Initially, kidney produces bicarbonate to counteract but this is used up > acidotic
  • Hyperglycaemia overwhelms the kidneys + glucose starts being filtered into the urine + draws water out with it in the process (osmotic diuresis) leading to polyuria + severe dehydration, stimulating thirst centre (polydipsia)
1058
Q

DIABETIC KETOACIDOSIS

What is the effect on potassium in DKA?

A
  • Kidneys excrete K+ in urine so overall body K+ is low so when treatment with insulin starts can develop severe hypokalaemia as insulin drives K+ into cells
1059
Q

DIABETIC KETOACIDOSIS

What is the clinical presentation of DKA?

A
  • Smell of acetone on breath (pear drops)
  • Vomiting, dehydration, abdominal pain
  • Hyperventilation due to acidosis (Kussmaul’s breathing)
  • Drowsiness, coma + hypovolaemic shock
1060
Q

DIABETIC KETOACIDOSIS

What are some investigations for DKA?

A

Diagnosis –
- Glucose >11mmol/L
- Blood ketones >3mmol/L
- Blood gas pH <7.3 or bicarb <15mmol/L (metabolic acidosis)
ECG = signs of hypokalaemia (U waves, small/absent T, long PR, ST depression)
- U+Es + creatinine show dehydration, hypokalaemia

1061
Q

DIABETIC KETOACIDOSIS

What are some complications of DKA?

A
  • Cerebral oedema (neuro obs)
  • VTE
  • Hypokalaemia > arrhythmias
  • AKI
1062
Q

DIABETIC KETOACIDOSIS

What is the initial management of DKA?

A
  • ABCDE = ?airway, 100% oxygen by face mask, IV cannula + bloods, cardiac monitor, BP + HR
  • Aggressive IV fluid resus over 48h is first CRUCIAL step
1063
Q

DIABETIC KETOACIDOSIS

How do you calculate how dehydrated someone is in DKA?

A
  • 5% if pH 7.2–7.29 or bicarbonate <15 (mild)
  • 7% if ph 7.1–7.19 or bicarbonate <10 (mod)
  • 10% if pH <7.1 or bicarbonate <5 (severe)
1064
Q

DIABETIC KETOACIDOSIS
What fluids do you give in DKA for…

i) shock?
ii) not shocked but needs fluids?
iii) maintenance?

A

i) 1st bolus = 0.9% NaCl 20ml/kg, subsequent 10ml/kg, do NOT subtract bolus from deficit
ii) 0.9% NaCl 10ml/kg over 1 hour, DO subtract bolus from deficit
iii) 0.9% NaCl with 40mmol/L KCl (20mmol in 500ml bag)

1065
Q

DIABETIC KETOACIDOSIS
Why do you rehydrate slowly over 48h?
Management?

A
  • Risk of cerebral oedema = headache, altered behaviour or GCS
  • CT head, IV mannitol + hypertonic saline if suspect
1066
Q

DIABETIC KETOACIDOSIS

What is the further management of DKA after fluid resus has been commenced?

A
  • Insulin infusion 1-2h after IV fluids = Actrapid 0.05-0.1 unit/kg/h
  • Once blood glucose <15mmol/L, add 5% dextrose to fluids
  • Monitor ketones, glucose, plasma electrolytes, GCS, obs, strict fluid balance hourly
1067
Q

HYPOGLYCAEMIA
What is hypoglycemia?
What can it be due to?

A
  • Low blood sugar level, defined as <2.6mmol/L

- Too much insulin, lack of carbs or not processing the carbs properly (diarrhoea, vomiting, malabsorption)

1068
Q

HYPOGLYCAEMIA

What is the clinical presentation of hypoglycaemia?

A
  • Tremor, sweating, irritability, nauseous, dizzy, pale, confused, drowsy
  • More severe = reduced GCS, coma, seizures + even death
  • Hypo phenomena
1069
Q

HYPOGLYCAEMIA

What are some hypo phenomena?

A
  • Hypo unawareness
  • Reactive hypoglycaemia (after meal)
  • Somogyi = post-hypoglycaemic hyperglycaemia
  • Dawn phenomena = morning rise in blood sugar
1070
Q

HYPOGLYCAEMIA

What is the management of mild-moderate hypoglycaemia?

A
  • Check BM to confirm + lab confirmation
  • PO if can tolerate with rapid acting glucose (sugary drink)
  • Follow up with longer acting carb (biscuits, toast)
  • Glucogel if cannot tolerate, check BM after 15m
1071
Q

HYPOGLYCAEMIA

What is the management of severe hypoglycaemia?

A
  • Do NOT attempt to give anything orally
  • IV dextrose (2ml/kg bolus then infusion)
  • IM glucagon (<5y = 0.5mg, >5y 1mg)
  • Wait 10m + if conscious give longer-acting carb
1072
Q

CONGEN HYPOTHYROIDISM

What is congenital hypothyroidism?

A
  • Affects 1 in 3000 births + causes severe neurological dysfunction which leads to severe learning difficulties later in life
1073
Q

CONGEN HYPOTHYROIDISM
What is the most common cause of congenital hypothyroidism…

i) worldwide?
ii) UK?
iii) consanguineous families?

A

i) Iodine deficiency
ii) Maldescent of the thyroid or an absent thyroid gland (athyrosis)
– Remains as a lingual mass or unilobular small gland
iii) Dyshormonogenesis (inborn error of thyroid hormone synthesis)
– Goitre due to TSH stimulation

1074
Q

CONGEN HYPOTHYROIDISM

What is the clinical presentation of congenital hypothyroidism?

A
  • Prolonged neonatal jaundice
  • Delayed mental + physical milestones
  • Puffy face, macroglossia + hypotonia
  • Failure to thrive + feeding problems
  • Coarse facies + hoarse cry
1075
Q

CONGEN HYPOTHYROIDISM

What are some investigations for congenital hypothyroidism?

A
  • Should be picked up on Guthrie neonatal bloodspot test

- TFTs = TSH high, may have USS neck or thyroid isotope scan

1076
Q

CONGEN HYPOTHYROIDISM
What is the management of congenital hypothyroidism?
What has this helped prevent?
How can it be monitored?

A
  • Lifelong PO thyroxine 30m before breakfast
  • Titrate dose to maintain normal growth, start at age 2–3w
  • Severe neuro disability (spasticity, gait issues, dysarthria)
  • Normal TSH levels is most important at indicating long-term well controlled thyroid disease
1077
Q

JUVENILE HYPOTHYROIDISM
What is associated with juvenile hypothyroidism?
What causes it?

A
  • Increased risk with Down or Turner syndrome

- Most commonly autoimmune thyroiditis (e.g. Hashimoto’s)

1078
Q

JUVENILE HYPOTHYROIDISM

What is the clinical presentation of juvenile hypothyroidism?

A

(Same as adult)

  • F>M, cold intolerance, dry skin, thin + dry hair
  • Bradycardia, constipation, goitre
  • Delayed puberty, obesity
1079
Q

JUVENILE HYPOTHYROIDISM

What are the investigations + management of juvenile hypothyroidism?

A
  • TFTs will show high TSH, anti-thyroid peroxidase antibodies if hashimoto’s
  • Lifelong PO thyroxine replacement
1080
Q

HYPERTHYROIDISM
What is the most common cause of hyperthyroidism?
What causes it in neonates?

A
  • Graves’ disease (autoimmune) secondary to production of thyroid stimulating immunoglobulins
  • Transplacental IgG exchange if mother has Graves’ disease
1081
Q

HYPERTHYROIDISM

What is the clinical presentation of hyperthyroidism?

A
  • Sweating, increased appetite, weight loss
  • Diarrhoea, psychosis, tremor, tachycardia
  • Rapid growth in height + advanced bone maturity
  • Eye disease less common in children
1082
Q

HYPERTHYROIDISM

What are the investigations for hyperthyroidism?

A
  • TFTs = T3/4 high, TSH low

- TSH receptor stimulating antibody (TRAb) in Graves’ disease

1083
Q

HYPERTHYROIDISM

What is the management of hyperthyroidism?

A
  • 1st line = carbimazole or propylthiouracil (either dose titration or block + replace with thyroxine)
  • Radioiodine can be used too
  • May need subtotal thyroidectomy to give permanent remission
  • Beta-blockers for symptomatic relief
1084
Q

LEUKAEMIA
What is acute lymphoblastic leukaemia (ALL)?
What is the epidemiology?
Risk factors?

A
  • Affects precursors to B + T cells > uncontrolled proliferation of immature blast cells affecting both the blood + bone marrow
  • 80% of leukaemias in children, peaks at 2–5y
  • Trisomy 21, immunocompromised (HIV, immunosuppressants)
1085
Q

LEUKAEMIA

What are the broad categories of clinical presentation in ALL?

A
  • General = anorexia, fever, weight loss, night sweats
  • Bone marrow infiltration with leukaemic blast cells
  • Reticuloendothelial infiltration with leukaemic blast cells
  • Other organ infiltration (more common at relapse)
1086
Q

LEUKAEMIA
In terms of ALL, how do the following present…

i) bone marrow infiltration?
ii) reticuloendothelial infiltration?
iii) other organ infiltration?

A

i) Anaemia (pallor, lethargy), neutropenia (frequent or severe infections, thrombocytopenia (bruising, petechiae, epistaxis)
ii) Hepatosplenomegaly, lymphadenopathy
iii) CNS = headaches, vomiting + nerve palsies, testicular enlargement, bone pain

1087
Q

LEUKAEMIA

What are the investigations for ALL?

A
  • FBC + blood film = pancytopenia, WCC up or down, circulating blast cells
  • Bone marrow aspiration to Dx
  • CXR to identify mediastinal mass
  • LP to identify CNS involvement
1088
Q

LEUKAEMIA

What are some good prognostic factors in ALL?

A
  • Age 2-10
  • Female
  • WCC <20
  • No CNS disease
  • Caucasian
1089
Q

LEUKAEMIA

What are some complications of ALL?

A
  • Psychological impact of childhood cancer
  • Fertility = offer to freeze eggs or sperm before Tx
  • CNS development, growth impact, delayed puberty, cardiac + renal toxicity
1090
Q

LEUKAEMIA

What is the supportive management for ALL?

A
  • Correct abnormalities with blood/platelet transfusion
  • Fluids for hydration
  • Allopurinol to protect kidneys from tumour lysis syndrome
1091
Q

LEUKAEMIA

What is the standard regime for ALL management?

A
  • Remission induction
  • Consolidation + CNS protection
  • Interim maintenance
  • Intensification
  • Continuing maintenance (same drugs as interim)
1092
Q

LEUKAEMIA
Explain the precise management in…

i) remission induction
ii) consolidation + CNS protection
iii) interim maintenance
iv) intensification
v) continuing maintenance

A

i) Combo chemo often IV vincristine + dexamethasone
ii) IT chemo (methotrexate)
iii) Mod intensity chemo, co-trimoxazole prophylaxis for PCP
iv) Intensive chemo to consolidate remission
v) 2y for girls, 3y for boys as higher recurrence

1093
Q

LEUKAEMIA

What is the management for relapse or high risk patients?

A
  • Bone marrow transplantation
1094
Q

LYMPHOMA
What is lymphoma?
What are the types?

A
  • Malignancies of lymphocytes which accumulate in lymph nodes, may also infiltrate organs + divided histologically
  • Hodgkin’s lymphoma (more common in adolescence)
  • Non-Hodgkin’s (more common in childhood)
1095
Q

LYMPHOMA
What causes lymphadenopathy?
What might make you think of malignancy?

A
  • Mostly self-limiting like viral URTI (cold, tonsillitis)
  • Can be HIV, autoimmune or malignancies
  • Enlarging node without infective cause, persistently enlarged, unusual site (supraclavicular), presence of B Sx or abnormal CXR
1096
Q

LYMPHOMA

What is the clinical presentation of Hodgkin’s lymphoma?

A
  • Painless lymphadenopathy, mostly neck (alcohol induces pain)
  • Larger + firmer lymph nodes than in benign lymphadenopathy
  • Lymph nodes may cause airway obstruction
  • B Sx (sweating, pruritus, weight loss, fever)
1097
Q

LYMPHOMA

What are the investigations for Hodgkin’s lymphoma?

A
  • Lymph node biopsy will show characteristic Reed-Sternberg cells
    – Mirror-image nuclei, often bi/multinucleate malignant lymphocytes
  • CT/PET CAP for staging using Ann Arbor system
1098
Q

LYMPHOMA

How is Hodgkin’s lymphoma staged?

A
  • I = confined to single LN region
  • II = ≥2 nodal areas on same side of diaphragm
  • III = nodal areas on both sides of diaphragm
  • IV = spread beyond LNs
  • Each staged subdivided to A if no systemic Sx or B if ‘B’ Sx
1099
Q

LYMPHOMA

What is the management of Hodgkin’s lymphoma?

A
  • Combination chemo ± radiotherapy (overall 80% cured)
1100
Q

LYMPHOMA

What are the 3 broad presentations of Non-Hodgkin’s lymphoma?

A
  • T-cell malignancies
  • B-cell malignancies
  • Extra-nodal disease
1101
Q

LYMPHOMA

How do T-cell malignancies present?

A
  • May present as ALL or non-Hodgkin lymphoma both being characterised by a mediastinal mass with bone marrow infiltration
  • Mediastinal mass may cause SVC obstruction
1102
Q

LYMPHOMA

How do B-cell malignancies present?

A
  • Present as non-Hodgkin lymphoma with localised lymph node disease, usually in head + neck or abdomen
1103
Q

LYMPHOMA

How does extra-nodal disease present?

A
  • Often GI > pain from obstruction, a palpable mass or even intussusception
1104
Q

LYMPHOMA

What is the management of Non-Hodgkin’s lymphoma?

A
  • Biopsy, stage with CT/MRI CAP + examine bone marrow (aspirate) + CSF
  • Multi-agent chemo = 80% survival rates
1105
Q

BRAIN TUMOURS

What is the site of brain tumours?

A
  • Almost always primary (unlike adults)

- 60% are infratentorial

1106
Q

BRAIN TUMOURS

What are the different types of brain tumours?

A
  • Astrocytoma (#1) varies from benign to glioblastoma multiforme
  • Medulloblastoma arises in the midline of posterior fossa, may have spinal mets
  • Ependymoma mostly in posterior fossa where it behaves as medulloblastoma
  • Brainstem glioma
  • Craniopharyngioma
1107
Q

BRAIN TUMOURS
What is a craniopharyngioma?
How does it present?

A
  • Developmental tumour arising from squamous remnant of Rathke pouch
  • Not truly malignant but locally invasive (bitemporal hemianopia often lower quadrant as superior chiasmal compression)
1108
Q

BRAIN TUMOURS

What is the clinical presentation of brain tumours?

A
  • Evidence of raised ICP

- Focal neurology dependant on where the lesion is

1109
Q

BRAIN TUMOURS

What are some signs of raised ICP?

A
  • Headache worse in morning
  • Papilloedema
  • Vomiting, esp. in the morning
  • Behaviour or personality change
  • Visual disturbance (squint secondary to 6th nerve palsy, nystagmus)
1110
Q

BRAIN TUMOURS

What are some focal neurological signs?

A
  • Spinal tumours = back pain, peripheral weakness of arms/legs or bladder + bowel dysfunction depending on level of lesion
  • Ataxia, seizures
1111
Q

BRAIN TUMOURS

What is the best investigation for brain tumours?

A
  • MRI for visualisation

- Avoid LP if raised ICP

1112
Q

BRAIN TUMOURS

What are some complications of brain tumours?

A
  • Outcome depends on location, how much is cleared + how much healthy brain tissue removed
  • Survivors face neuro disability, growth + endocrine problems, neuropsychological issues
1113
Q

BRAIN TUMOURS

What is the management of brain tumours?

A
  • 1st line = surgical resection + ventriculoperitoneal shunt to reduce risk of coning + treat hydrocephalus
  • Chemo (fewer options as less drugs cross BBB) or radiotherapy
1114
Q

NEUROBLASTOMA
What is a neuroblastoma? Epidemiology?
Where is it located?

A
  • Arise from neural crest tissue in the adrenal medulla + sympathetic nervous system, most common <5y, NOT brain tumour
  • Mass anywhere along sympathetic chain so could lead to spinal cord compression
1115
Q

NEUROBLASTOMA
Why are neuroblastomas biologically unusual?
What types of neuroblastomas are there?

A
  • Spontaneous regression sometimes occur in v young infants

- Spectrum from benign (ganglioneuroma) to highly malignant neuroblastoma

1116
Q

NEUROBLASTOMA

What is the clinical presentation of neuroblastoma?

A
  • Abdominal mass
  • Sx of metastatic = weight loss, hepatomegaly, pallor, bone pain + limp
  • Uncommon = paraplegia, cervical lymphadenopathy, proptosis, periorbital bruising, skin nodules
1117
Q

NEUROBLASTOMA

How does the abdominal mass present?

A
  • Often crosses midline + envelopes major vessels + lymph nodes
  • Can grow very large
  • Classically abdo primary is of adrenal origin
1118
Q

NEUROBLASTOMA

What are the investigations for neuroblastoma?

A
  • Raised urinary catecholamine levels
  • CT/MRI + confirmatory biopsy
  • Evidence of metastatic disease = bone marrow sampling, MIBG scan ±bone scan
1119
Q

NEUROBLASTOMA

What is the management of neuroblastoma?

A
  • Localised primaries + no mets can often be cured with surgery
  • Metastatic = chemo, autologous stem cell rescue, surgery + radio
  • Immunotherapy may be used for long-term maintenance
1120
Q

WILM’S TUMOUR
What is a Wilm’s tumour?
Epidemiology?
Risk factor?

A
  • Nephroblastoma that originates from embryonal renal tissue, cure rate 80%
  • > 80% present before age 5, rare after 10y
  • FHx = Wilm’s tumour susceptibility gene
1121
Q

WILM’S TUMOUR

What is the clinical presentation of a Wilm’s tumour?

A
  • Large abdominal mass found incidentally in an otherwise well child
  • May have flank pain, anorexia, anaemia, painless haematuria + HTN
1122
Q

WILM’S TUMOUR

What are the investigations for Wilm’s tumour?

A
  • USS ± CT/MRI showing intrinsic renal mass distorting the normal structure
  • Mass with characteristic mixed tissue densities (cystic + solid)
  • Staging for distant mets (often lung), biopsy for histology Dx
1123
Q

WILM’S TUMOUR

What is the management of a Wilm’s tumour?

A
  • Initial chemo followed by delayed nephrectomy (full if 1 kidney, partial if bilateral but RARE)
  • Radiotherapy for more advanced disease
1124
Q

SOFT TISSUE SARCOMAS

What is a soft tissue sarcoma?

A
  • Most common is rhabdomyosarcoma

- Thought to originate from primitive mesenchymal tissue

1125
Q

SOFT TISSUE SARCOMAS

What is the clinical presentation?

A
  • Head + neck most common sites > proptosis, nasal obstruction, blood stained nasal discharge
  • GU > dysuria, urinary obstruction, scrotal mass, PV bloody discharge
  • Mets > lung, liver, bone or bone marrow with poor prognosis
1126
Q

SOFT TISSUE SARCOMAS

What is the management of soft tissue sarcomas?

A
  • Biopsy + full radiological assessment of primary + any metastasis
  • Multimodality treatment with chemo, surgery + radio
1127
Q

BONE TUMOURS
What are bone tumours?
When do they occur?

A
  • Osteogenic sarcoma more common than Ewing sarcoma but Ewing seen more in younger children
  • Both have male predominance
  • Uncommon before puberty
1128
Q

BONE TUMOURS

What is the clinical presentation of bone tumours?

A
  • Limbs most common site (particularly femur, tibia + humerus)
  • Persistent localised bone pain often precedes mass, otherwise well
  • May be worse at night + cause disrupted sleep
1129
Q

BONE TUMOURS

What are some investigations for bone tumours?

A
  • Raised ALP on bloods
  • Plain XR followed by MRI + bone scan, ?PET scan + bone biopsy
  • CT chest for lung mets + bone marrow sampling to exclude involvement
1130
Q

BONE TUMOURS

How might bone tumours present on radiographs?

A
  • XR = destruction + variable periosteal new bone formation
  • Periosteal reaction leads to classic “sunburst” appearance
  • Ewing sarcoma often shows substantial soft tissue mass
1131
Q

BONE TUMOURS

What is the management for bone tumours?

A
  • Combo chemo before surgery (amputation avoided if possible)
  • Radio used in Ewing sarcoma for local disease, esp. if surgical resection is impossible or incomplete (e.g. pelvis or axial skeleton)
1132
Q

RETINOBLASTOMA

What is a retinoblastoma?

A
  • Malignant tumour of retinal cells which can lead to severe visual impairment
1133
Q

RETINOBLASTOMA
What is a genetic cause of retinoblastoma?
How might it present?

A
  • Retinoblastoma susceptibility gene on chromosome 13 = AD but incomplete penetrance > offer genetic screening
  • All bilateral tumours are hereditary, 20% of unilateral are
1134
Q

RETINOBLASTOMA

What is the clinical presentation of retinoblastoma?

A
  • White pupillary reflex noted to replace the normal red reflex or a squint
  • May have decreased visual acuity + nystagmus
  • Most present within 3y
1135
Q

RETINOBLASTOMA

What are the investigations for retinoblastoma?

A
  • Screened for in NIPE
  • MRI + Examination under anaesthetic
  • Biopsy is avoided + treatment based on ophthalmological findings
1136
Q

RETINOBLASTOMA

What are some complications of retinoblastoma?

A
  • Significant risk of second malignancy (especially sarcoma) amongst survivors of hereditary retinoblastoma
1137
Q

RETINOBLASTOMA
What is the management aims for retinoblastoma?
What is the management?

A
  • Cure cancer + preserve vision
  • Chemo, particularly if bilateral to shrink tumours > local laser treatment to retina
  • Radiotherapy or enucleation of eye (removal) if advanced
  • Most cured but many visually impaired
1138
Q

LIVER TUMOURS
What are liver tumours?
In neonates?

A
  • Mostly hepatoblastoma or hepatocellular carcinoma

- Primary liver tumours in neonates = haemangioma

1139
Q

LIVER TUMOURS

What is the clinical presentation of liver tumours?

A
  • Abdominal distension or mass are common

- Pain + jaundice rare

1140
Q

LIVER TUMOURS

What are the investigations for liver tumours?

A
  • Elevated serum alpha fetoprotein in nearly all cases

- USS/CT/MRI to visualise the tumour + extent of disease

1141
Q

LIVER TUMOURS

What is the management of liver tumours?

A
  • Chemo, surgery or liver transplant if inoperable

- Majority of hepatoblastoma can be cured but prognosis worse for hepatocellular

1142
Q

GERM CELL TUMOURS
What are germ cell tumours?
Where do they arise from?

A
  • Benign (sacrococcygeal region) or malignant (gonads)

- Primitive germ cells which migrate from yolk sac endoderm to form gonads in the embryo

1143
Q

GERM CELL TUMOURS

What is the management of germ cell tumours?

A
  • Serum markers = alpha fetoprotein + beta hCG raised + useful in monitoring
  • Very sensitive to chemo with good outcome at most sites
1144
Q

LCH

What is Langerhans cell histiocytosis (LCH)?

A
  • Abnormal proliferation of histiocytes
  • Classified as disorder of dendritic (antigen presenting) cells but as sometimes aggressive + responds to chemo it’s dealt with oncology
1145
Q

LCH

What is the clinical presentation of LCH?

A
  • Bone lesions (any age with pain, swelling or even #)
  • Diabetes insipidus (may be associated with skull disease with proptosis + hypothalamic infiltration)
  • Systemic
1146
Q

LCH

How does systemic LCH present?

A
  • Most aggressive form
  • Infancy with seborrhoeic rash + soft tissue involvement of gums, ears, lungs, liver, spleen, LN + bone marrow
  • May cause recurrent otitis media/mastoiditis
1147
Q

LCH

What is the management of LCH?

A
  • XR + full skeletal survey to identify multiple lesions
  • Birbeck (tennis-racket shaped) granules on electron microscopy
  • Bone lesions need biopsy
  • Diabetes insipidus = long-term desmopressin
  • Systemic responds to chemo
1148
Q

LCH

How would LCH present on XR?

A
  • Characteristic lytic lesion with well-defined border, often skull
1149
Q

PROTEINURIA

What is proteinuria?

A
  • Persistent proteinuria is significant + should be quantified by measuring the urine protein/creatinine ratio in an early morning sample
  • Protein should not exceed <20mg/mmol of creatinine
1150
Q

PROTEINURIA

What are some causes of proteinuria?

A
  • Transient (febrile illness, after exercise = no investigation)
  • Nephrotic syndrome
  • HTN
  • Tubular proteinuria
  • Increased glomerular perfusion pressure
  • Reduced renal mass
1151
Q

NEPHROTIC SYNDROME
What is nephrotic syndrome?
Who is it most common in?

A
  • Basement membrane in the glomerulus becomes highly permeable to protein, allowing proteins to leak from blood into the urine
  • 2–5y
1152
Q

NEPHROTIC SYNDROME

What is the classic triad of nephrotic syndrome?

A
  • Heavy proteinuria (>1g/m^2/24h)
  • Hypoalbuminaemia (<25g/L)
  • Oedema
1153
Q

NEPHROTIC SYNDROME

What are the 3 main types of nephrotic syndrome?

A
  • Steroid sensitive nephrotic syndrome (minimal change disease)
  • Steroid-resistant nephrotic syndrome
  • Congenital nephrotic syndrome
1154
Q

NEPHROTIC SYNDROME
What is minimal change disease?
What can it be caused by?
Who does it present in?

A
  • Most common cause in children with no underlying pathology
  • NSAIDs, Hodgkin’s lymphoma, infectious mononucleosis
  • M>F, commoner in Asian children than Caucasians, do not progress to renal failure
1155
Q

NEPHROTIC SYNDROME

What are the features of minimal change disease?

A
  • 1–10y
  • No macroscopic haematuria
  • Normal BP, complement levels, renal function
  • Often precipitated by resp infections
  • 1/3 resolve, 1/3 infrequent relapses, 1/3 frequent relapses
1156
Q

NEPHROTIC SYNDROME

What are the 3 types of steroid-resistant nephrotic syndrome?

A
  • Focal segmental glomerulosclerosis
  • Membranoproliferative glomerulonephritis
  • Membranous nephropathy
1157
Q

NEPHROTIC SYNDROME
What is focal segmental glomerulosclerosis?
Pathophysiology?
Management?

A
  • Most common, familial or idiopathic
  • Injury to podocytes that alters permeability of the glomeruli
  • May progress to ESRF, some respond to cytotoxic meds
1158
Q

NEPHROTIC SYNDROME
What is membranoproliferative glomerulonephritis?
Features?

A
  • Immune complex depositions in glomerulus + thickened basement membrane
  • Commoner in older children, haematuria + low complement levels
1159
Q

NEPHROTIC SYNDROME
What is membranous nephropathy?
Associations?

A
  • Immunologically mediated disease of glomerular basement membrane
  • Associated with hep B, may precede SLE, most remit spontaneously in 5y
1160
Q

NEPHROTIC SYNDROME
Epidemiology of congenital nephrotic syndrome?
Inheritance?
Features?

A
  • First 3m of life, rare, high mortality
  • Recessive inheritance with increased incidence in Finnish (UK = consanguinity)
  • Albuminuria so severe may need unilateral nephrectomy then dialysis for renal failure until renal transplant
1161
Q

NEPHROTIC SYNDROME

What is the clinical presentation of nephrotic syndrome?

A
  • Frothy urine (significant proteinuria)
  • Generalised oedema (pitting + gravitational), can be periorbital (esp on waking)
  • May have scrotal, vulval, leg + ankle oedema too
  • Pallor, breathlessness (pleural effusions) + abdo distension (ascites)
1162
Q

NEPHROTIC SYNDROME

What are some investigations for nephrotic syndrome?

A
  • Urinalysis (proteinuria + microscopic haematuria)
  • Urine MC&S (infection)
  • Renal function (U+Es, creatinine, albumin, urinary Na+ concentration)
  • Lipid profile
  • Systemic disease screen
  • Antistreptolysin O or anti-DNAse B titres + throat swab
  • Renal biopsy for histology if no steroid response
1163
Q

NEPHROTIC SYNDROME
In nephrotic syndrome, what are you looking for with the following investigations…

i) lipid profile?
ii) systemic disease screen?
iii) renal biopsy?

A

i) Deranged (hyperlipidaemia, hypercholesterolaemia)
ii) FBC, CRP/ESR, complement (C3/4) levels, autoimmune screen, hep B/C screen, malaria if abroad
iii) Minimal change disease shows normal glomeruli on light microscopy but fusion of podocytes + effacement of foot processes on electron

1164
Q

NEPHROTIC SYNDROME

What are some complications of nephrotic syndrome?

A
  • Hypovolaemia as fluid leaks from intravascular to interstitial space
  • Thrombosis due to loss of antithrombin III
  • Infection due to leakage of immunoglobulins, weakening the immune system + exacerbated by Tx with steroids
1165
Q

NEPHROTIC SYNDROME
What is the management of…

i) steroid-sensitive nephrotic syndrome?
ii) steroid-resistant nephrotic syndrome?

A

i) PO prednisolone 60mg/m^2 for 4w then 40mg/m^2 on alternate days for 4w, median time for protein free urine is 11d
ii) Cyclophosphamide ± ciclosporin

1166
Q

NEPHROTIC SYNDROME

What is the general management of nephrotic syndrome?

A
  • Strict fluid balance with restriction, no added salt
  • Tx hypovolaemia if present but albumin infusion is not routine
  • Diuretics if very oedematous + no evidence of hypovolaemia
  • Prophylactic PO penicillin V until oedema-free
  • PCV vaccine
1167
Q

NEPHRITIC SYNDROME

What is nephritic syndrome?

A
  • Acute nephritis is inflammation within the nephrons of the kidneys
  • This leads to reduction in kidney function, macroscopic haematuria + proteinuria
1168
Q

NEPHRITIC SYNDROME

What are some causes of nephritis syndrome?

A
  • Post-streptococcal glomerulonephritis
  • IgA nephropathy (Berger’s disease)
  • Vasculitis (HSP, SLE, Wegener’s, polyarteritis nodosa)
  • Goodpasture’s syndrome
  • Familial nephritis (Alport’s syndrome)
1169
Q

NEPHRITIC SYNDROME
What is post-streptococcal glomerulonephritis?
Pathophysiology?

A
  • Nephritis after group A beta-haemolytic strep pyogenes illness (tonsillitis)
  • Immune complexes made up of streptococcal antigens, antibodies + complement proteins get stuck in glomeruli > inflammation
1170
Q

NEPHRITIC SYNDROME
What is IgA nephropathy?
How does it present?

A
  • IgA deposits in the nephrons of the kidney causes inflammation
  • Teenagers/young adults, related to HSP
1171
Q 
NEPHRITIC SYNDROME
How does Wegener's present?
How does SLE present?
How does polyarteritis present?
What is the management?
A
  • Fever, weight loss, skin rash, arthropathy + epistaxis
  • Adolescent girls, more common in Asians + Afro-Caribbeans
  • Renal arteriography for presence of aneurysms
  • Steroids, plasma exchange + IV cyclophosphamide
1172
Q

NEPHRITIC SYNDROME

How does Goodpasture’s syndrome present?

A
  • Anti-glomerular basement membrane antibodies against type 4 collagen, also causes pulmonary haemorrhage
1173
Q

NEPHRITIC SYNDROME

How does familial nephritis (Alport’s syndrome) present?

A
  • X-linked recessive
  • ESRF by early adult
  • Associated with nerve deafness + ocular defects
  • Mother may have haematuria
1174
Q

NEPHRITIC SYNDROME

What is the clinical presentation of nephritic syndrome?

A
  • Haematuria (often macroscopic) + proteinuria of varying degree
  • Impaired GFR (rising creatinine), decreased urine output + volume overload
  • Salt + water retention > HTN (?seizures) + oedema (eyes)
1175
Q

NEPHRITIC SYNDROME

What are some investigations for nephritic syndrome?

A
  • Urinalysis (haematuria, raised protein), PCR, RBC casts on microscopy
  • FBC, U+Es (raised urea), creatinine (raised), hyperkalaemic acidosis
  • C3/4 may be low (post-strep, SLE)
  • Antistreptolysin O titre (may be raised), throat/skin swabs for strep
  • Renal biopsy
1176
Q

NEPHRITIC SYNDROME
What antibodies would you screen for?
What would renal biopsy show in IgA nephropathy?

A
  • Anti-dsDNA if SLE, ANCA in vasculitides

- IgA deposits + glomerular mesangial proliferation

1177
Q

NEPHRITIC SYNDROME

What is the general management of nephritic syndrome?

A
  • Fluid + electrolyte balance, monitor UO + creatinine
  • Treat HTN + oedema with antihypertensives ±diuretics
  • Nephritis usually settles alone, may need steroids
1178
Q

NEPHRITIC SYNDROME
What is the management of…

i) post-strep glomerulonephritis?
ii) IgA nephropathy?

A

i) Supportive, mostly full recovery (some have worsening renal function), penicillin if active infection
ii) Supportive, immunosuppressants (steroids, cyclophosphamide) can slow progression

1179
Q

HSP
What is Henoch-Schönlein purpura (HSP)?
What is the epidemiology?

A
  • IgA mediated small vessel vasculitis leading to inflammation affecting the skin, joints, GI tract + kidneys
  • 3-10y, M>F + peaks during winter, preceded by URTI or gastroenteritis
1180
Q

HSP

What is the clinical presentation of HSP?

A
  • Palpable purpuric rash affecting extensor surfaces of lower limbs + buttocks
  • Joint pain (knees + ankles, may be swollen + painful, reduced ROM)
  • Colicky abdo pain (GI haemorrhage > haematemesis + melaena, intussusception)
  • Renal involvement (IgA nephritis > haematuria + proteinuria)
1181
Q

HSP

What are some investigations for HSP?

A
  • Exclude DDx of non-blanching rash
    – FBC + blood film (thrombocytopenia, sepsis + leukaemia), CRP, cultures, HSP = afebrile
  • Urinalysis for proteinuria + haematuria
  • PCR to quantify proteinuria
  • Renal biopsy if severe renal issues to determine if Tx
1182
Q

HSP
What might happen if proteinuria becomes severe in HSP?
What would you monitor?

A
  • Nephrotic syndrome

- BP + serum albumin

1183
Q

HSP

What is the management of HSP?

A
  • Supportive = analgesia for arthralgia, inconsistent evidence for steroid use
  • Often good prognosis, self-limiting but 1/3 recur
1184
Q

HUS

What is haemolytic uraemic syndrome (HUS)?

A
  • Thrombosis within small blood vessels throughout the body, usually triggered by a bacterial toxin (shiga)
1185
Q

HUS

What is the classic HUS triad?

A
  • Microangiopathic haemolytic anaemia (due to RBC destruction)
  • AKI (kidneys fail to excrete waste products like urea)
  • Thrombocytopenia
1186
Q

HUS

What are some causes of HUS?

A
  • Mostly E. Coli 0157 producing Shiga toxin, can be Shigella (?Petting zoo)
  • Use of Abx + antimotility agents to treat gastroenteritis caused by these pathogens can increase risk of HUS
1187
Q

HUS

What is the clinical presentation of HUS?

A
  • Prodrome of bloody diarrhoea
  • Urine > reduced output, haematuria or dark brown
  • Abdo pain, lethargy
  • Oedema, HTN, bruising
1188
Q

HUS

What are some investigations for HUS?

A
  • FBC (anaemia, thrombocytopenia), fragmented blood film
  • U+Es reveal AKI
  • Stool culture
1189
Q

HUS

What is the management of HUS?

A
  • ABCDE as emergency
  • Often self-limiting so supportive > refer to paeds renal unit for ?dialysis
  • Anti-hypertensives, careful fluid balance, blood transfusions
  • Plasma exchange if severe + not associated with diarrhoea
1190
Q

HAEMATURIA

How can you differentiate the source of haematuria based on its presentation?

A
  • Glomerular = brown urine, deformed red cells, presence of casts, often with proteinuria
  • Lower urinary tract = red urine, occurs at beginning or end of stream, not accompanied by proteinuria
1191
Q

HAEMATURIA
What is the most common cause of haematuria?
What are the other 2 broad causes?

A
  • UTI

- Glomerular or non-glomerular

1192
Q

HAEMATURIA
What are some…

i) glomerular
ii) non-glomerular

causes of haematuria?

A

i) Acute/chronic glomerulonephritis, IgA nephropathy, familial nephritis, post-strep glomerulonephritis, HSP, goodpasture’s
ii) Wilm’s tumour, trauma, stones (esp if FHx), sickle cell disease + other bleeding disorders

1193
Q

HAEMATURIA

What investigations for haematuria should all patients get?

A
  • Urinalysis + urine MC&S
  • FBC, platelets, clotting + sickle cell screen
  • U+Es, creatinine, albumin, Ca2+, phosphate
  • USS kidneys + urinary tract
1194
Q

HAEMATURIA

What investigations would you do if you suspected glomerular haematuria?

A
  • ESR, C3/4 + anti-DNA antibodies
  • Throat swab + antistreptolysin O/anti-DNAse B titres
  • Hepatitis B/C screen
  • Renal biopsy if recurrent haematuria, abnormal renal function/complement levels or significant persistent proteinuria
1195
Q

HYPOSPADIAS
What is hypospadias?
What is epispadias?

A
  • Urethral meatus is abnormally displaced posteriorly on the penis
  • Meatus displayed anteriorly on top of the penis
1196
Q

HYPOSPADIAS

What is the clinical presentation of hypospadias?

A
  • Ventral urethral meatus
  • Hooded prepuce
  • Chordee (ventral or downwards curvature of the penis in more severe forms)
  • Usually identified during NIPE
1197
Q

HYPOSPADIAS

What is the management of hypospadias?

A
  • Do NOT circumcise as foreskin often needed for later reconstructive surgery
  • Refer to paediatric specialist urologist
  • Mild cases may not require any treatment
  • Surgery done <2y to correct position of meatus + straighten penis
1198
Q

CRYPTORCHIDISM
What is cryptorchidism?
What are some risk factors?

A
  • Undescended testes, arrested along its normal path of descent
  • Prems, SGA + LBW, FHx, maternal smoking in pregnancy
1199
Q

CRYPTORCHIDISM

What is the pathophysiology of cryptorchidism?

A
  • Testes develop in abdo + gradually migrate down through inguinal canal + into the scrotum (usually completes prior to birth)
  • Longer the testes take to descend, less likely will happen spontaneously
1200
Q

CRYPTORCHIDISM

What are some complications of cryptorchidism?

A
  • Higher risk of torsion, infertility + cancer
1201
Q

CRYPTORCHIDISM

What are the 3 types of cryptorchidism?

A
  • Retractile (normal variant in prepubescent boys)
  • Palpable
  • Impalpable
1202
Q

CRYPTORCHIDISM

What is retractile cryptorchidism?

A
  • Testis can be manipulated into bottom of scrotum without tension but subsequently retracts into inguinal region (pulled by cremaster muscle)
  • Usually present later as hard to notice on NIPE, eventually testes should permanently reside in scrotum (follow-up to check)
1203
Q

CRYPTORCHIDISM

What is palpable cryptorchidism?

A
  • Testis palpated in groin but cannot be manipulated into scrotum
  • Sometimes ectopic so lie outside the normal line of descent + may be found in perineum or femoral triangle
1204
Q

CRYPTORCHIDISM

What is impalpable cryptorchidism?

A
  • No testis felt on detailed examination

- May be in the inguinal canal, intra-abdominal or absent

1205
Q

CRYPTORCHIDISM

What are some investigations for cryptorchidism?

A
  • Genital exam = warm room + hands, relaxed child, try “milk” testes into scrotum
  • USS in bilateral impalpable testes to verify internal pelvic organs
  • Hormonal for bilateral impalpable testes to confirm presence of testicular tissue (record rise in serum testosterone in response to IM hCG)
  • Laparoscopy = Ix of choice for impalpable
1206
Q

CRYPTORCHIDISM

What is the first line management of cryptorchidism?

A
  • If unilateral monitor as most newborns descend
  • Wait 3m then refer to paeds urologist so they’re seen by 6m
  • If bilateral needs urgent senior review within 24h
1207
Q

CRYPTORCHIDISM

What is the management of cryptorchidism that has not resolved?

A
  • Surgical placement of testis in scrotum (orchidopexy = before or around 1y)
  • May need testosterone at age 10 to start puberty if absent altogether, ?prosthesis
1208
Q

CRYPTORCHIDISM

What are the reasons for performing orchidopexy around 1y?

A
  • Fertility = optimises spermatogenesis as testis need to be below body temp
  • Malignancy = massive risk of seminoma in undescended testes
  • Cosmesis, psychological + avoid torsion
1209
Q

TESTICULAR TORSION
What is testicular torsion?
Who is it most common in?

A
  • Twisting of the testis + spermatic cord resulting in testicular ischaemia
  • Common in adolescents + neonatal but can happen at any age
1210
Q

TESTICULAR TORSION

What is the clinical presentation of testicular torsion?

A
  • Tender, red, painful testicle which may be swollen + retracted upwards
  • Loss of cremasteric reflex
  • Elevation of testis does not ease pain (differentiates epididymitis)
  • Acute abdo pain (lower abdo or scrotal), N+V
1211
Q

TESTICULAR TORSION

What is a very similar differential diagnosis of testicular torsion?

A
  • Torsion of testicular appendage (hydatid)
  • Remnant of Mullerian duct, can rapidly enlarge prior to puberty due to gonadotropins
  • ‘Blue dot sign’
1212
Q

TESTICULAR TORSION

What are the investigations of testicular torsion?

A
  • Doppler USS = decreased blood flow

- Surgical exploration unless torsion can be excluded

1213
Q

TESTICULAR TORSION

What is the management of testicular torsion?

A
  • Emergency surgical intervention > needs operating to untort within 6h
  • If testicle is dead > orchidectomy
1214
Q

VARICOCELE
What is a varicocele?
Which side is most likely?
How does it present?

A
  • Abnormal dilatation of the testicular veins
  • L sided due to angle of L testicular vein entering the L renal vein
  • ‘Bag of worms’, dragging or aching sensation, associated with subfertility
1215
Q

VARICOCELE

What is the management of varicocele?

A
  • Confirm with USS + Doppler studies

- Conservative unless pain

1216
Q

HYDROCELE
What is a hydrocele?
What are the 2 types?

A
  • Accumulation of fluid within the tunica vaginalis
  • Communicating = patency of processus vaginalis > peritoneal fluid draining into the scrotum (newborn males, often resolves within first few months)
  • Non-communicating = excess fluid production within the tunica vaginalis
1217
Q

HYDROCELE

What is the clinical presentation of hydrocele?

A
  • Soft, non-tender swelling of hemi-scrotum
  • Swelling is confined to scrotum + you can get ‘above’ the mass on examination
  • Transilluminates with a pen torch
1218
Q

HYDROCELE

What is the management of hydrocele?

A
  • USS to confirm

- Repair if not resolved by 2y

1219
Q

INGUINAL HERNIA
What is an inguinal hernia and what causes it?
Epidemiology?

A
  • Almost always indirect + due to patent processus vaginalis

- More common in boys + prematures infants

1220
Q

INGUINAL HERNIA

What is the clinical presentation of an inguinal hernia?

A
  • Intermittent swelling in groin/scrotum on crying or straining
  • Unable to get ‘above’ it on examination, often is reducible
  • If strangulated may have N+V, severe pain
1221
Q

INGUINAL HERNIA

What is the management of an inguinal hernia?

A
  • Surgical repair to avoid risk of strangulation (bowel obstruction + perforation)
1222
Q

UTI
What is a urinary tract infection (UTI)?
How can they be differentiated anatomically?

A
  • Growth of bacteria within the urinary tract (>10^5 single organism/ml)
  • Upper tract infection involves the kidneys (pyelonephritis) + associated with fever, loin pain/tenderness
  • Lower tract infection involves bladder (cystitis) + low-grade fever with urinary Sx
1223
Q

UTI

When is a UTI classified as atypical?

A
  • Septicaemia
  • Poor urine flow
  • Non-E. Coli
  • Failure to respond
1224
Q

UTI

What are some causes of UTI?

A
  • # 1 = E. coli, often from bowel contamination
  • Proteus (M>F, predisposes to formation of phosphate stones in urine)
  • Pseudomonas (may indicates structural abnormality)
1225
Q

UTI

What is a complication of E. Coli which might make it difficult to treat?

A
  • Can become resistant to penicillin by producing beta-lactamase (ESBL E. Coli) which breakdown the beta lactam part of Abx making it ineffective
1226
Q

UTI

What are some risk factors for UTI?

A
  • Incomplete bladder emptying
  • Vesico-ureteric reflux
  • Structural abnormality (horseshoe kidney, ureteric strictures)
  • Inadequate toilet hygiene
1227
Q

UTI
What is the clinical presentation of UTI in…

i) infants??
ii) children?

A

i) Non-specific = fever, irritable, D+V, prolonged neonatal jaundice, failure to thrive, septicaemia, febrile convulsions (>6m)
ii) Loin/abdo (suprapubic) pain, fever (± rigors), febrile convulsions, frequency, dysuria, haematuria, recurrent enuresis, offensive urine

1228
Q

UTI

What are some investigations for UTI?

A
  • Urinalysis for nitrites, leukocytes esterase
  • Urine sample MC&S = collection pads (babies), MSU clean catch, suprapubic aspiration from bladder under USS worse case
1229
Q

UTI

In terms of performing ultrasounds scans in UTI, what are the guidelines?

A
  • USS within 6w if 1st UTI + <6m but responds well to Tx within 48h or during illness if recurrent or atypical bacteria
1230
Q

UTI

What are some complications of UTI?

A
  • Recurrent kidney infections can cause renal scarring predisposing to HTN, chronic renal failure + even pregnancy complications later in life
1231
Q

UTI

What is the supportive management of UTI?

A
  • Good fluid intake, analgesia
  • Wipe front>back
  • Regular voiding + ensure complete bladder emptying
1232
Q

UTI
Admission criteria for UTI?
What is the management of children under 3m in UTI?

A
  • Admission if <3m, systemically unwell or significant risk factors
  • ALL children <3m + fever get immediate IV cefuroxime + full septic screen (blood cultures, FBC, CRP lactate, LP etc)
1233
Q

UTI
What is the management of UTI for…

i) >3m with upper UTI?
ii) >3m with lower UTI?
iii) ESBL E. Coli?

A

i) ?Admission for IV, if not PO co-amoxiclav for 7–10d
ii) 3d PO trimethoprim, nitrofurantoin, amoxicillin or cephalosporin with follow-up if still unwell after 24-48h
iii) Meropenem

1234
Q

UTI
What is a recurrent UTI?
What are the investigations for recurrent + atypical UTIs?

A
  • ≥2 UTIs with ≥1 with systemic Sx (or ≥3 without)
  • USS within 6w in all children with recurrent UTIs
  • DMSA (dimercaptosuccinic acid) scan (renal scarring 4-6m)
  • Micturating cystourethrogram (<6m) if FHx of vesico-ureteric reflux, dilatation of ureter on USS, poor urinary flow (catheterise + inject contrast into bladder)
1235
Q

UTI

What is vesico-ureteric reflux?

A
  • Ureters displaced laterally + enter directly into the bladder, rather than at an angle with a shortened or absent intramural course so urine has a tendency to flow from the bladder back into the ureters
1236
Q

UTI
How is vesico-ureteric reflux diagnosed?
What is the management?

A
  • MCUG
  • Avoid constipation or excessively full bladder
  • Prophylactic Abx
  • ?Surgical input from paediatric urology
1237
Q

UT ABNORMALITIES

Name 6 urinary tract abnormalities

A
  • Renal agenesis
  • Multicystic dysplastic kidney
  • Polycystic kidney disease
  • Pelvic/horseshoe kidney
  • Posterior urethral valves
  • Prune-belly syndrome
1238
Q

UT ABNORMALITIES
What is renal agenesis?
What is a serious complication and how does that present?

A
  • Absence of both kidneys > severe oligohydramnios + hence foetal compression from reduced foetal urine excretion > Potter syndrome (fatal)
  • Low-set ears, beaked nose, prominent epicanthic folds + downward slant to eyes
1239
Q

UT ABNORMALITIES

What are some other consequences of oligohydramnios in renal agenesis?

A
  • Pulmonary hypoplasia > respiratory failure

- Limb deformities such as severe talipes

1240
Q

UT ABNORMALITIES
What is multicystic dysplastic kidney?
What causes it?

A
  • Non-functioning structure with large fluid-filled cysts with no renal tissue or connection with bladder
  • Failure of union of ureteric bud with nephrogenic mesenchyme
1241
Q

UT ABNORMALITIES
What is the management of multicystic dysplastic kidney?
What is a complication?

A
  • Half involuted by 2y + nephrectomy only indicated if very large or HTN
  • No urine production so if bilateral > Potter syndrome
1242
Q

UT ABNORMALITIES
How does polycystic kidney disease differ from MDK?
What are the two types of polycystic kidney disease?

A
  • Some renal function remained in polycystic kidney disease
  • AD = HTN, haematuria in childhood with renal failure in adulthood
  • AR = defect on chromosome 6 that encodes fibrocystin, protein for normal renal tubule development
1243
Q

UT ABNORMALITIES
How might ARPKD present?
What are some complications?

A
  • Antenatal USS or with abdo masses or renal failure
  • Neonates may develop Potter syndrome secondary to oligohydramnios
  • Often liver involvement with portal + interlobular fibrosis
1244
Q

UT ABNORMALITIES
What is pelvic/horseshoe kidney?
What is a complication?

A
  • Abnormal caudal migration when the lower poles are fused in the midline
  • Abnormal position can predispose to infection or obstruction to urinary outflow
1245
Q

UT ABNORMALITIES
What is posterior urethral valves?
What is a consequence?

A
  • Tissue at proximal end of urethra causes obstruction to urinary outflow, M>F
  • Back pressure into bladder, ureters + up to kidneys > hydronephrosis
  • Also prevents complete bladder emptying > risk of UTI
1246
Q

UT ABNORMALITIES
How can posterior urethral valves present in utero?
What is a complication of posterior urethral valves?

A
  • Oligohydramnios + potentially pulmonary hypoplasia

- Risk of dysplastic kidneys, at its worse if bilateral could lead to potter syndrome

1247
Q

UT ABNORMALITIES

What is Prune-belly syndrome?

A
  • Absent musculature leading to large bladder + Dilated ureters (megacystis-megaureters) + cryptorchidism
1248
Q

UT ABNORMALITIES
What are the 2 first steps in management of urinary tract abnormalities?
How is the management split after that?

A
  • Antenatal Dx + start prophylactic Abx to prevent UTI
  • Bilateral hydronephrosis and/or dilated lower urinary tract in a male
  • Unilateral hydronephrosis in male or any anomaly in female
1249
Q

UT ABNORMALITIES

What is the management of bilateral hydronephrosis and/or dilated lower urinary tract in a male?

A
  • Bilateral seen in bladder neck obstruction or posterior urethral valves
  • USS within 48h of birth to exclude posterior urethral valves
    – Abnormal = MCUG + surgery if required (ablation during cystoscopy)
    – Normal = stop Abx, repeat USS after 2-3m
1250
Q

UT ABNORMALITIES

What is the management of unilateral hydronephrosis in male or any anomaly in female?

A
  • Unilateral seen in pelviureteric or vesicoureteric junction obstruction
  • Abnormal = further investigations
  • Normal = stop Abx, repeat USS after 2-3m
1251
Q

CIRCUMCISION
What is phimosis?
What is paraphimosis?

A
  • Inability to retract foreskin > physiological at birth (ballooning on urination)
  • Can be retracted but need adequate analgesia
1252
Q

CIRCUMCISION
What is pathological phimosis?
What is it caused by?
Management?

A
  • Whitish scarring on foreskin <5y
  • Due to localised skin disease balanitis xerotica obliterans (BXO), can also involves glans penis + can cause urethral meatal stenosis
  • Circumcision
1253
Q

CIRCUMCISION
What is recurrent balanoposthitis?
How does it present?
What is the management?

A
  • Posthitis = inflammation of foreskin
  • Balanitis = inflammation of the glans penis
  • Single attack of redness, sometimes with purulent discharge
  • Responds well to warm baths + broad spectrum Abx but recurrent = circumcision
1254
Q

CIRCUMCISION

When would circumcision be considered in recurrent UTIs?

A
  • Helpful to reduce risk of urinary tract bacterial colonisation in boys with upper urinary tract anomalies that are complicated by recurrent UTIs
1255
Q

ACUTE KIDNEY INJURY
What is acute kidney injury (AKI)?
What is it characterised by?

A
  • Spectrum of potentially reversible, reduction in renal function
  • Rapid rise in creatinine + development of oliguria (<0.5ml/kg/h)
1256
Q

ACUTE KIDNEY INJURY

What are the 3 broad causes of AKI?

A
  • Pre-renal (most common cause in children)
  • Renal
  • Post-renal
1257
Q

ACUTE KIDNEY INJURY

What are some pre-renal causes of AKI?

A
  • Hypovolaemia = nephrotic syndrome, haemorrhage, sepsis, burns
  • Circulatory failure
1258
Q

ACUTE KIDNEY INJURY

What are some renal causes of AKI?

A
  • Vascular = HUS, vasculitis, embolus)
  • Glomerular = glomerulonephritis
  • Interstitial = interstitial nephritis, pyelonephritis
  • Tubular = acute tubular necrosis
1259
Q

ACUTE KIDNEY INJURY

What are some post-renal causes of AKI?

A
  • Obstruction = congenital like posterior urethral valve or acquired like blocked urinary catheter
1260
Q

ACUTE KIDNEY INJURY

What are some investigations for AKI?

A
  • FBC, U+Es (high urea), high creatinine, USS to identify if obstruction
  • Can have hyperkalaemia, hyperphosphataemia + metabolic acidosis
1261
Q

ACUTE KIDNEY INJURY

What is the management of AKI?

A
  • Maintain strict fluid balance (IV fluids if hypovolaemic, restrict if overload)
  • If failure of conservative Mx, severe electrolyte disturbances or acidosis then ?dialysis
1262
Q

CHRONIC KIDNEY DISEASE

What are some causes of chronic kidney disease (CKD)?

A
  • Structural malformations (congenital dysplastic kidney)
  • Glomerulonephritis
  • Hereditary nephropathies
  • Systemic diseases
1263
Q

CHRONIC KIDNEY DISEASE

What is the clinical presentation of CKD?

A
  • Failure to thrive, anorexia + vomiting
  • HTN, acute-on-chronic renal failure, anaemia
  • Bony deformities from renal osteodystrophy
  • Incidental proteinuria, polydipsia + polyuria
1264
Q

CHRONIC KIDNEY DISEASE

What are some investigations for CKD?

A
  • Monitor growth
  • FBC = anaemia due to reduced EPO
  • U+Es + electrolytes (Ca2+ low, phosphate high)
1265
Q

CHRONIC KIDNEY DISEASE

What is the management of CKD?

A
  • Diet + NG or gastrostomy feeding may be needed for normal growth
  • Phosphate restriction + activated vitamin D to prevent renal osteodystrophy
  • May need recombinant growth hormone
  • Recombinant erythropoietin to prevent anaemia
  • Dialysis + transplantation if in ESRF (GFR <15ml/min/1.73m^2)
1266
Q

FANCONI SYNDROME

What is fanconi syndrome?

A
  • Generalised reabsorptive disorder of renal tubular transport in the PCT resulting in…
    – Type 2 (proximal) renal tubular acidosis
    – Polydipsia, polyuria, aminoaciduria + glycosuria
    – Osteomalacia/rickets
1267
Q

FANCONI SYNDROME

What are some causes of fanconi syndrome?

A
  • Usually secondary to inborn errors of metabolism
    – Cystinosis (AR > intracellular accumulation of cysteine, most common)
    – Wilson’s disease, galactosaemia, glycogen storage disorders
1268
Q

FOETAL HAEMOGLOBIN
What is haemoglobin?
What is the structural difference between foetal and adult haemoglobin?

A
  • Responsible for transporting oxygen around the body in RBCs
  • HbF = 2 alpha + 2 gamma subunits
  • HbA = 2 alpha + 2 beta subunits
1269
Q

FOETAL HAEMOGLOBIN
What is the main difference between HbF + HbA?
When does HbF production reduce?

A
  • HbF has greater affinity to oxygen than adult so oxygen binds more easily + is more reluctant to let go = crucial for oxygen to transport from maternal to foetal Hb
  • HbF production decreases from 32w with HbA + HbA2 production increasing
1270
Q

FOETAL HAEMOGLOBIN
When is Hb concentration highest?
When does the shift from HbF to HbA occur?

A
  • At birth to compensate for low oxygen concentration in the foetus
  • By 6m of age very little HbF produced so HbA predominates
1271
Q

ANAEMIA OVERVIEW
What is anaemia?
How is it defined in paeds?

A
  • Hb level below the normal range
  • Neonate = <14g/dL
  • 1–12m = <10g/dL
  • 1–12y = <11g/dL
1272
Q

ANAEMIA OVERVIEW

What are the 3 main mechanisms of anaemia?

A
  • Increased red cell production
  • Increased red cell destruction (haemolysis)
  • Blood loss (uncommon in paeds like Meckel’s, vWD, foetomaternal bleeding)
1273
Q

ANAEMIA OVERVIEW
What are some causes of decreased red cell production?
What are some clues?

A
  • Ineffective erythropoiesis (Fe, folate deficiency, CKD)
  • Red cell aplasia
  • Normal reticulocytes, abnormal MCV in nutrient deficiencies
1274
Q

ANAEMIA OVERVIEW
What are some causes of haemolysis?
What are some clues?

A
  • G6PD deficiency, haemoglobinopathies, hereditary spherocytosis
  • Raised reticulocytes, abnormal appearance on blood films, +ve direct antiglobulin test if immune cause
1275
Q

ANAEMIA OVERVIEW
What is haemolytic anaemia?
What is the normal lifespan of RBC?

A
  • Characterised by reduced red cell lifespan due to increased red cell destruction in the circulation (intravascular haemolysis) or liver/spleen (extravascular)
  • 120d
1276
Q

ANAEMIA OVERVIEW
How does haemolysis cause anaemia?
What is the difference in haemolytic anaemias in neonates + children?

A
  • Red cell survival reduced significantly but bone marrow production increases too, anaemia = bone marrow cannot compensate
  • Neonates = immune haemolytic anaemias, children = instrinsic abnormalities (G6PD)
1277
Q

ANAEMIA OVERVIEW

List 4 features of haemolytic anaemias

A
  • Anaemia
  • Hepatosplenomegaly
  • Unconjugated bilirubinaemia
  • Excess urinary urobilinogen
1278
Q

ANAEMIA OVERVIEW

What are some causes of anaemia in the neonate?

A
  • Reduced RBC production = congenital red cell aplasia + congenital parvovirus infection > red cell aplasia
  • Haemolytic anaemia = immune (haemolytic disease of newborn) or hereditary (G6PD etc)
1279
Q

ANAEMIA OVERVIEW

What are the main causes of anaemia of prematurity?

A
  • Inadequate erythropoietin production
  • Reduced red cell lifespan
  • Frequent blood sampling whilst in hospital
  • Iron + folic acid deficiency after 2-3m.
1280
Q

IRON DEF ANAEMIA
What is iron deficiency anaemia?
Why does it cause anaemia?
Iron physiology?

A
  • # 1 cause of childhood anaemia
  • Bone marrow requires iron to produce Hb
  • Iron mainly absorbed in the duodenum + jejunum + requires acid from the stomach to keep iron in soluble ferrous (Fe2+) form, if acid drops it changes to insoluble ferric (Fe3+) form
1281
Q

IRON DEF ANAEMIA

What are some causes of iron deficiency anaemia?

A
  • Inadequate intake = common as infants require additional iron for increasing blood volume
  • Malabsorption = Crohn’s + coeliac
  • Blood loss = common in menstruating females
1282
Q

IRON DEF ANAEMIA
What are some sources of iron?
What can affect iron absorption?

A
  • Breast milk, formula, cow’s milk or weaning (cereals)

- Markedly increased when eaten with food rich in vitamin C + inhibited by tannin in tea

1283
Q

IRON DEF ANAEMIA

What are the symptoms of iron deficiency anaemia?

A
  • Generic = fatigue, SOB, headaches, dizziness, palpitations

- Young infants feed more slowly + children tire easily

1284
Q

IRON DEF ANAEMIA

What are some signs of iron deficiency anaemia?

A
  • Generic = pallor (inc. conjunctival), tachycardia, tachypnoea
  • Pica = consumption of non-food materials
  • Koilonychia, angular cheilitis, brittle hair + nails
1285
Q

IRON DEF ANAEMIA

What are some investigations for iron deficiency anaemia and what would you see?

A
  • FBC = low Hb, microcytic (low MCV + MCH), normal reticulocytes
  • Blood film = hypochromic microcytic red cells
  • Iron studies:
    – Low = serum ferritin, iron + transferrin saturation
    – High = total iron binding capacity
1286
Q

IRON DEF ANAEMIA
What is…

i) transferrin saturation?
ii) total iron binding capacity?

A

i) Proportion of transferrin bound to iron

ii) Total space on transferrin for Fe to bind

1287
Q

IRON DEF ANAEMIA

What is the management of iron deficiency anaemia?

A
  • Diet = eat red meat (beef, lamb), oily fish, green veg (broccoli, spinach), dried fruit (raisins)
  • Children may be given polysaccharide iron complex (Niferex)
  • Ferrous sulfate or fumarate often used
1288
Q

IRON DEF ANAEMIA

What are some side effects of treatment with oral iron supplementation?

A
  • Constipation
  • Black coloured stools
  • Nausea
1289
Q

RED CELL APLASIA
What is red cell aplasia?
What are the 3 types?

A
  • Reduced RBC production > anaemia

- Congenital (Diamond-Blackfan anaemia), transient erythroblastopenia of childhood, parvovirus B19

1290
Q

RED CELL APLASIA
What is Diamond-Blackfan anaemia?
How does it present?
What is the management?

A
  • Rare disease with gene mutations in ribosomal protein genes
  • Most present 2-3m with anaemia Sx, may have congenital abnormalities (short stature, abnormal thumbs)
  • PO steroids, 1/12 RBC transfusions, steroids fail = stem cell transplant
1291
Q

RED CELL APLASIA
What is transient erythroblastopenia of childhood?
How can you differentiate it?

A
  • Often triggered by viral infections, same features as congenital
  • Recovery usually occurs within weeks, no gene mutations or congenital abnormalities
1292
Q

RED CELL APLASIA

How does parvovirus B19 infection cause red cell aplasia?

A
  • Only in children with inherited haemolytic anaemias, not in healthy children
1293
Q

RED CELL APLASIA

What are some investigations for red cell aplasia?

A
  • Low reticulocytes, low Hb, normal bilirubin
  • RBCs appear normal on blood film
  • Negative Coombs (direct antiglobulin) test
  • Absent red cell precursors on bone marrow examination
1294
Q

APLASTIC ANAEMIA
What is aplastic anaemia?
What is the pathophysiology?

A
  • Bone marrow failure syndrome

- Reduction/absence of all three main lineages in the bone marrow leading to peripheral pancytopenia

1295
Q

APLASTIC ANAEMIA

What are some causes of aplastic anaemia?

A
  • Idiopathic
  • Acquired = viruses (hepatitis), drugs (Chemo, Abx), toxins
  • Inherited = Fanconi anaemia, Shwachman-Diamond syndrome
1296
Q

APLASTIC ANAEMIA

What is the clinical presentation of aplastic anaemia?

A
  • Anaemia due to reduced red cell numbers
  • Infection due to reduced white cell numbers (especially neutrophils)
  • Bruising + bleeding due to thrombocytopenia
1297
Q

APLASTIC ANAEMIA
What is Fanconi anaemia?
How may it present?
Management?

A
  • AR condition
  • Majority have congenital anomalies = short stature, abnormal radii + thumbs, café-au-lait spots, neuro issues
  • Bone marrow transplant as high risk of death from failure or acute leukaemia
1298
Q

APLASTIC ANAEMIA
What is Shwachman-Diamond syndrome?
How does it present?
Risk?

A
  • AR
  • Bone marrow failure, pancreatic exocrine failure + skeletal abnormalities
  • Risk of transformation to acute leukaemia
1299
Q

APLASTIC ANAEMIA

What are some investigations for aplastic anaemia?

A
  • FBC + blood film = normocytic anaemia, pancytopenia

- Hypoplastic bone marrow

1300
Q

APLASTIC ANAEMIA

WHat is the management of aplastic anaemia?

A
  • Supportive (fluids, Abx, address underlying)

- Bone marrow transplant if severe

1301
Q

G6PD DEFICIENCY
What is glucose-6-phosphate dehydrogenase?
Cause/epidemiology?

A
  • Rate-limiting enzyme in the pentose phosphate pathway + is essential for preventing oxidative damage to RBCs by reactive oxygen species
  • X-linked recessive (males), more common in Mediterranean, Middle Eastern + African background
1302
Q

G6PD DEFICIENCY

What is the clinical presentation of G6PD deficiency?

A
  • Neonatal jaundice (often within 3d)
  • Anaemia
  • Intermittent jaundice (esp. to triggers)
  • Splenomegaly + gallstones
1303
Q

G6PD DEFICIENCY

What are some investigations for G6PD deficiency?

A
  • Normal blood picture between episodes
  • Blood film = Heinz bodies (blobs of denatured Hb “inclusions” seen in RBCs), may show bite + blister cells
  • Diagnosis by G6PD enzyme assay
1304
Q

G6PD DEFICIENCY

What is it important to note about a G6PD enzyme assay?

A
  • During haemolytic crisis may be misleadingly elevated due to higher enzyme concentration in reticulocytes so do repeat assay after 3m
1305
Q

G6PD DEFICIENCY
What is a complication of G6PD deficiency?
How does it present?
What causes it?

A
  • Acute haemolysis (mostly intravascular)
  • Fever, malaise, dark urine (as Hb + urobilinogen)
  • Precipitated by infection #1, certain meds (ciprofloxacin, sulfasalazine, sulfonylureas, antimalarial quinine), fava (broad) beans
1306
Q

G6PD DEFICIENCY

What is the management of G6PD deficiency?

A
  • Parent education for signs of acute haemolysis (jaundice, pallor, dark urine) + list of precipitants to avoid
1307
Q

SPHEROCYTOSIS
What is hereditary spherocytosis?
Epidemiology?

A
  • AD mutation in genes for proteins of the red cell membrane

- Most common inherited haemolytic anaemia in Northern Europeans

1308
Q

SPHEROCYTOSIS
What is the pathophysiology of hereditary spherocytosis?
Similar condition?

A
  • Red cell loses part of its membrane when it passes through the spleen + the reduction in surface:volume causes it to become spheroidal, making them fragile + easily destroyed in the spleen
  • Hereditary elliptocytosis with ellipse RBCs
1309
Q

SPHEROCYTOSIS

What is the clinical presentation of hereditary spherocytosis?

A
  • Jaundice
  • Anaemia
  • Splenomegaly + gallstones
  • Due to increased bilirubin excretion
1310
Q

SPHEROCYTOSIS

What are some investigations for hereditary spherocytosis?

A
  • FBC = increased mean corpuscular haemoglobin concentration (MCHC)
  • Raised reticulocytes (rapid turnover of RBCs)
  • Blood film = spherocytes (no central pallor)
  • Coombs test to exclude autoimmune haemolytic anaemia (associated with spherocytes)
1311
Q

SPHEROCYTOSIS
What is the main complication of hereditary spherocytosis?
How does it present?
Management?

A
  • Aplastic crisis due to parvovirus B19 infection
  • Increased anaemia, haemolysis + jaundice without normal response from bone marrow to create new RBCs (no reticulocyte response)
  • Supportive, may require transfusions
1312
Q

SPHEROCYTOSIS

What is the management of hereditary spherocytosis?

A
  • PO folic acid if mild
  • Splenectomy if poor growth or severe anaemia (often deferred until 7y as risk of splenectomy sepsis, will need HiB, men C, S. pneumoniae vaccines + lifelong PO penicillin)
1313
Q

SICKLE CELL DISEASE
What is the pathophysiology of sickle cell disease?
How does it arise?

A
  • Abnormal variant (haemoglobin S) which polymerises to be an abnormal sickle (crescent) shape + so more fragile + easily destroyed > haemolytic anaemia
  • Amino acid substitution (glutamine > valine)
1314
Q

SICKLE CELL DISEASE
What issues can sickled red cells cause?
What can exacerbate this?

A
  • Reduced lifespan so can get trapped in small vessels leading to vaso-occlusion > ischaemia
  • Can be exacerbated by dehydration, cold, stress, infections + hypoxia, associated with raised haematocrit
1315
Q

SICKLE CELL DISEASE

What is the genetics behind sickle cell disease?

A
  • Autosomal recessive
  • Abnormal gene for beta-globin on C11
  • Heterozygous = sickle-cell trait
  • Homozygous = sickle cell disease (HbSS)
1316
Q

SICKLE CELL DISEASE
What is the epidemiology of sickle cell disease?
How could this be advantageous?

A
  • More common in Africa, India + the Middle East (areas traditionally affected by malaria)
  • Sickle-cell trait reduces the severity of malaria making them more likely to survive + pass the genes on
1317
Q

SICKLE CELL DISEASE
When does sickle cell disease present?
What do all sickle cell disease patients have?

A
  • 6m as HbF unaffected so manifests as HbF reduces
  • All have moderate anaemia with detectable jaundice from chronic haemolysis
  • All have marked increase in infection susceptibility, esp. pneumococci + H. influenzae due to hyposplenism secondary to chronic sickling + microinfarction of the spleen
1318
Q 
SICKLE CELL DISEASE
What is a severe, classic feature of sickle cell disease?
Common location?
Presentation?
Most severe?
A
  • Vaso-occlusive (painful) crises
  • Bones of limbs + spine common (may lead to avascular necrosis e.g. femoral heads)
  • Pain, fever + often those of triggering infection
  • Acute chest syndrome
1319
Q

SICKLE CELL DISEASE
What is acute chest syndrome?
What can cause it?
Management?

A
  • Fever or resp Sx (CP, tachypnoea) with new infiltrates on CXR
  • Can be due to infection (pneumonia, bronchiolitis) or non-infective (pulmonary vaso-occlusion or fat emboli)
  • Emergency > Abx or antivirals, blood transfusions for anaemia, may need NIV or intubation
1320
Q

SICKLE CELL DISEASE

Name 2 other vaso-occlusive crises

A
  • ‘Hand-foot syndrome’ common leading to dactylitis

- Priapism in men > urological emergency, aspiration

1321
Q

SICKLE CELL DISEASE
Sickle cell disease may present with acute anaemia (sudden drop in Hb).
What can cause this?

A
  • Haemolytic crises (sometimes with associated infection)
  • Aplastic crises (parvovirus causes cessation of RBC production)
  • Sequestration crises
1322
Q

SICKLE CELL DISEASE
What is a sequestration crisis?
What is the management?

A
  • Sudden hepatic or splenic enlargement, abdo pain + circulatory collapse from accumulation of sickled cells blocking blood flow
  • Supportive = blood transfusions, fluid resus, splenectomy can prevent this + used in recurrent crises as can lead to splenic infarction > increased infection susceptibility
1323
Q

SICKLE CELL DISEASE

What are some investigations for sickle cell disease?

A
  • Prenatal Dx via CVS
  • Detection via Guthrie test
  • FBC = low Hb, high reticulocytes
  • Blood film = sickled RBCs
  • Dx with Hb electrophoresis showing high amounts of HbSS + absent HbA
1324
Q

SICKLE CELL DISEASE

What are some complications of sickle cell disease?

A
  • Short stature + delayed puberty
  • Stroke + cognitive issues
  • Pulmonary HTN
  • Chronic renal failure
  • Psychosocial issues
1325
Q

SICKLE CELL DISEASE

What is the general management for sickle cell disease?

A
  • Fully immunised (PCV, HiB, meningococcus)
  • Avoid vaso-occlusive crisis triggers
  • PO phenoxymethylpenicillin prophylaxis
  • PO folic acid as increased demands due to haemolysis
  • Hydroxycarbamide + hydroxyurea can stimulate HbF production to prevent painful crises
  • Bone marrow transplant curative + offered if failed response
1326
Q

SICKLE CELL DISEASE
What are some potential triggers of vaso-occlusive crises?
How might these be prevented?

A
  • Cold, dehydration, excessive exercise, stress + hypoxia

- Dress warmly, plenty of drinks

1327
Q

SICKLE CELL DISEASE

What is the management of an acute crisis?

A
  • PO or IV analgesia according to need (?opiates)
  • IV fluids, oxygen
  • Infection treated with Abx, blood transfusion for severe anaemia
  • Exchange transfusion if severe (e.g. neuro complications)
1328
Q

THALASSAEMIA
What is thalassaemia?
Consequence?
What are the 2 types?

A
  • AR disorder arising from ≥1 gene defects, resulting in a reduced rate of production of ≥1 globin chains
  • RBCs more fragile + breakdown easily
  • Alpha = defect in alpha globin chains
  • Beta = defect in beta globin chains
1329
Q

THALASSAEMIA

What happens if there is deletion of 1 or 2 alpha globin chains?

A
  • Alpha thalassaemia trait
  • Often asymptomatic with mild or absent anaemia
  • Red cells hypochromic + microcytic
1330
Q

THALASSAEMIA

What happens if there is deletion of 3 alpha globin chains?

A
  • Mild-moderate hypochromic microcytic anaemia + splenomegaly
  • Few patients are transfusion dependent
1331
Q

THALASSAEMIA

What happens if there is deletion of all 4 alpha globin chains?

A
  • Alpha thalassaemia major
  • Death in utero with foetal hydrops from foetal anaemia
  • Occurs in families of South-East Asian origin, homozygotes
1332
Q

THALASSAEMIA
What is the epidemiology of beta thalassaemia?
What are the three types?

A
  • Indian subcontinent, Mediterranean + Middle East
  • Beta thalassaemia minor (1 abnormal + 1 normal gene)
  • Beta thalassaemia intermedia (2 defective or 1 defective + 1 deletion genes)
  • Beta thalassaemia major (homozygous for deletion genes)
1333
Q

THALASSAEMIA
What is beta thalassaemia minor?
How does it present?
Differentiate?

A
  • Carriers of abnormally functioning beta-globin gene
  • Mild microcytic + hypochromic anaemia (monitor)
  • Differentiate from Fe deficiency by measuring serum ferritin (normal)
1334
Q

THALASSAEMIA
What is beta thalassaemia intermedia?
Management?

A
  • More severe microcytic anaemia, beta-globin mutation allow a small amount of HbA and/or a large amount of HbF to be produced
  • Monitor + occasional blood transfusion
1335
Q

THALASSAEMIA
What is beta thalassaemia major?
How does it present?

A
  • Most severe form with no HbA as abnormal beta globin gene

- Severe transfusion-dependent anaemia from 3-6m, jaundice, failure to thrive

1336
Q

THALASSAEMIA

What is a complication of beta-thalassaemia major which isn’t common in developed countries?

A
  • Extramedullary haematopoiesis can occur if no regular blood transfusions
  • Leads to hepatosplenomegaly + bone marrow expansion leading to maxillary overgrowth + skull bossing
1337
Q

THALASSAEMIA

What are some investigations for beta thalassaemia?

A
  • FBC + blood film = hypochromic microcytic anaemia
  • HbA2 raised in beta-thalassaemia trait, HbA2 + HbF raised in major
  • Serum ferritin to differ between Fe anaemia + check iron overload
  • Hb electrophoresis for Dx
  • DNA testing via CVS before birth
1338
Q

THALASSAEMIA
What is the main complication of thalassaemia?
How might this present?

A
  • Repeated + Regular blood transfusions can cause chronic iron overload
  • Heart (cardiomyopathy, heart failure)
  • Liver (cirrhosis)
  • Pancreas (diabetes)
  • Pituitary (delayed growth + sexual maturation)
  • Skin (hyperpigmentation)
  • Arthritis + joint pain
1339
Q

THALASSAEMIA

What is the management of thalassaemia?

A
  • Lifelong monthly blood transfusions for the most severe cases
  • Desferrioxamine for iron chelation to prevent overload
  • Bone marrow transplant can be curative, reserved for beta thalassaemia major
1340
Q

HAEMOPHILIA
What are the 2 types of haemophilia?
What causes it?

A
  • Haemophilia A = factor VIII deficiency
  • Haemophilia B = factor IX deficiency
  • X-linked recessive (M>F), A>B, girls with Turner’s increased risk as 1 X
1341
Q

HAEMOPHILIA

How might haemophilia present?

A
  • Neonates = intracranial haemorrhage, haematomas + cord bleeding
  • Recurrent spontaneous bleeds, often large, into joints (haemoarthrosis) + muscles (cause arthropathy if not prevented)
  • Easy bruising, haematomas, mouth/gum bleeding, haematuria
1342
Q

HAEMOPHILIA
When does haemophilia typically present?
Important differential?

A
  • Around 1y as children become more mobile

- NAI

1343
Q

HAEMOPHILIA

What are some investigations for haemophilia?

A
  • FBC + blood film
  • Prothrombin time (factors 2, 5, 7, 10, extrinsic) normal
  • Activated partial thromboplastin time (intrinsic) = greatly increased
  • Severity dependent on amount of FVIII:C or FIX:C levels
  • Prenatal Dx with CVS
1344
Q

HAEMOPHILIA

What is the management of haemophilia?

A
  • IV infusion of recombinant FVIII or FIX concentrate if active bleeding (or prophylactic to reduce arthropathy risk)
  • Desmopressin stimulates vWF release for bleeding/prevention, TXA
  • AVOID aspirin, NSAIDs + IM injections (can worsen bleeding)
1345
Q

HAEMOPHILIA

What is a complication of the treatment for haemophilia?

A
  • Formation of antibodies against the clotting factor can render it ineffective
1346
Q

VON WILLEBRAND DISEASE

What is the physiological role of von Willebrand factor?

A
  • Facilitates platelet adhesion to damaged endothelium

- Acts as carrier protein for FVIII:C, protecting it from inactivation + clearance

1347
Q

VON WILLEBRAND DISEASE
What is von Willebrand disease (vWD)?
What causes it?
Types?

A
  • Deficiency of vWF leading to defective platelet plug formation + deficient FVIII:C > most common inherited bleeding disorder
  • AD, type 1 most common + mildest
  • Severity increases with type 2, type 3 has very low or no vWF (AR)
1348
Q

VON WILLEBRAND DISEASE

What is the clinical presentation of vWD?

A
  • Bruising, excessive + prolonged bleeding after surgery, mucosal bleeding (epistaxis, menorrhagia, bleeding gums)
  • In contrast to haemophilia = spontaneous soft tissue bleeding like large haematomas uncommon
1349
Q

VON WILLEBRAND DISEASE

What are some investigations for vWD?

A
  • FBC (normal platelets) + blood film, biochemical screen including renal + liver function
  • Prolonged bleeding time
  • Prothrombin time normal
  • APTT = elevated or normal
  • vWF antigen decreased, vWF multimers variable
1350
Q

VON WILLEBRAND DISEASE

What is the management of vWD?

A
  • Pressure applied if active bleeding
  • Minimise bleeding with desmopressin or TXA
  • Severe = plasma derived FVIII concentrate or vWF infusion
  • AVOID aspirin, NSAIDs + IM injections as can worsen bleeding
1351
Q

VON WILLEBRAND DISEASE
How is desmopressin given?
What does it do?

A
  • Nasal or s/c

- Release of vWF + FVIII concentrate

1352
Q

COAGULATION DISORDERS

What are acquired disorders of coagulation?

A

Secondary to

  • Haemorrhagic disease of the newborn due to vitamin K deficiency
  • Liver disease as location of clotting factor production
  • ITP + DIC
1353
Q

COAGULATION DISORDERS
What is vitamin K essential for?
What does deficiency result in?
How can this be prevented?

A
  • Essential for factors 2, 7, 9 + 10 (1972) production + naturally occurring anticoagulants like protein C + S
  • Prolonged prothrombin time so increased bleeding
  • All neonates get vitamin K IM to facilitate coagulation
1354
Q

COAGULATION DISORDERS

What can cause vitamin K deficiency?

A
  • Inadequate intake = neonates, long-term chronic illness
  • Malabsorption = coeliac, cystic fibrosis
  • Vitamin K antagonists = warfarin
1355
Q

DIC

What is disseminated intravascular coagulation (DIC)?

A
  • Coagulation pathway activation leads to diffuse fibrin deposits in the microvasculature
  • This leads to consumption of coagulation factors + platelets with secondary activation of fibrinolysis > increased bleeding risk
1356
Q

DIC

What can cause DIC?

A
  • Severe sepsis or shock due to circulatory collapse (meningococcal septicaemia, extensive tissue damage or burns), trauma, malignancy
1357
Q

DIC

What is the clinical presentation of DIC?

A
  • Bruising, purpura + haemorrhage

- Bleeding from unrelated site (epistaxis, venepuncture, GI, resp)

1358
Q

DIC

What are some investigation findings in DIC?

A
  • Thrombocytopenia
  • Prolonged prothrombin, APTT + bleeding time
  • Low fibrinogen + raised fibrinogen degradation products
1359
Q

DIC

What is the management of DIC?

A
  • Treat underlying

- Supportive = fresh frozen plasma + platelets

1360
Q

ITP

What is immune thrombocytopenic purpura (ITP)?

A
  • Commonest cause of thrombocytopenia in childhood

- T2 hypersensitivity reaction with destruction of circulating platelets by anti-platelet IgGs

1361
Q

ITP

What is the clinical presentation of ITP?

A
  • 1-2w post viral
  • Petechiae or purpuric rash (petechiae are pin-prick, purpura are larger)
  • Can cause epistaxis, other mucosal bleeding + bruising
1362
Q

ITP

What are the investigations for ITP?

A
  • FBC shows marked thrombocytopenia

- May have compensatory megakaryocyte increase in bone marrow

1363
Q

ITP

What is the management of ITP?

A
  • Often acute + self-limiting

- Severe bleeding may need prednisolone, IVIg, blood/platelet transfusions

1364
Q

THROMBOSIS

What are the causes of thrombosis in children?

A
  • Inherited thrombophilias = protein C + S deficiencies, antithrombin deficiency, factor V leiden
  • Acquired = catheter related (during Ix), DIC, hypernatraemia, polycythaemia (secondary to CHD or placental insufficiency in utero), malignancy, SLE
1365
Q

THROMBOSIS

What is the clinical presentation of thrombosis in children?

A
  • Inherited thrombophilias present with venous thrombosis in 2nd or 3rd decade
  • Thrombosis of cerebral vessels = stroke
  • Purpura fulminans = widespread haemorrhage + purpura into skin in neonatal period
1366
Q

THROMBOSIS

What are some investigations for thrombosis in children?

A
  • Screen for inherited thrombophilia if = any child with signs of thrombosis, FHx of neonatal purpura fulminans or clotting disorder
  • Assays for protein C + S
  • PCR for factor V Leiden + prothrombin gene mutation
1367
Q

THROMBOSIS

What is the management of thrombosis in children?

A
  • Warfarin or DOACs
1368
Q

ALLERGY
What is an allergy?
Give examples

A
  • Hypersensitivity reaction initiated by specific immunoglobulins
  • Food allergy, eczema, allergic rhinitis, asthma, urticaria, insect sting, drugs, latex + anaphylaxis
1369
Q

ALLERGY
Define…

i) hypersensitivity
ii) atopy

A

i) Objectively reproducible symptoms/signs following a defined stimulus at a dose tolerated by a normal person
ii) Personal/familial tendency to produce IgE in response to ordinary exposures to allergens (triad = eczema, asthma + rhinitis)

1370
Q

ALLERGY

What are two theories of allergy and briefly explain them?

A
  • Hygiene hypothesis = high microbial exposure means less allergy
  • Skin sensitisation theory = regular exposure via food + preventing exposure via breaks in skin before food means less allergies
1371
Q

ALLERGY

What are 2 broad categories of allergens?

A
  • Inhalant = house-dust mite, plant pollens, moulds in asthma
  • Ingestant = nuts, cow’s milk, eggs, seafood
1372
Q

ALLERGY

What are the 2 broad types of allergy?

A
  • IgE mediated (some food allergies, allergic asthma)

- Non-IgE mediated (coeliac disease, some food allergies)

1373
Q

ALLERGY

How does IgE mediated allergies present?

A
  • Early phase within minutes where release of histamines from mast cells > urticaria, angioedema, sneezing + bronchospasm with a late response 4-6h later with nasal congestion, cough + bronchospasm of lower airway
  • Urticaria can be trigger if in sun or if child gets hot/cold
1374
Q

ALLERGY

How does non-IgE mediated allergies present?

A
  • Typically, delayed onset of Sx + a more varied clinical course
1375
Q

ALLERGY

What is the Gell and Coombs hypersensitivity classification?

A
  • Type 1 = IgE trigger mast cells + basophils to release histamines + cytokines
  • Type 2 = IgG/M bind to cell-surface antigens which is a host cell but activates immune system as considers foreign > cytotoxic
  • Type 3 = immune complex mediated with activation of complement/IgG
  • Type 4 = T-cell mediated delayed type hypersensitivity
1376
Q

ALLERGY

Give an example for each type of hypersensitivity reaction

A
  • T1 = acute anaphylaxis, hayfever
  • T2 = autoimmune disease, haemolytic disease of newborn, transfusion reaction
  • T3 = SLE, RA, HSP, post-strep glomerulonephritis
  • T4 = TB, contact dermatitis
1377
Q

ALLERGY

What are some investigations that can be done in allergy?

A
  • Skin prick test = test a patch + compare the size of wheals with controls
  • Patch test = useful in allergic contact dermatitis where place a patch of allergens + assess the skins’ reaction
  • RAST test = measures total + allergen specific IgE in blood
  • Food challenge test = slowly increase exposure to allergen + measure response
1378
Q

CMPA
What is cow’s milk protein allergy (CMPA)?
Associations?

A
  • Affects children <3y where there’s hypersensitivity to protein in cow’s milk, most outgrow by age 3, IgE and non-IgE types
  • More common in formula fed babies + those with personal or FHx of atopy
1379
Q

CMPA

How does CMPA differ from lactose intolerance?

A
  • Lactose is a sugar

- Explosive watery stools, abdo distension, flatulence + audible bowel sounds

1380
Q

CMPA

What is the clinical presentation of CMPA?

A
  • Apparent when weaned from breast > formula milk or food with milk
  • GI = bloating + wind, abdo pain, D+V, failure to thrive
  • Allergic = urticaria, cough, wheeze, sneezing, itching
  • Anaphylaxis + angioedema is rare
1381
Q

CMPA

How does CMPA differ to cow’s milk intolerance?

A
  • Not an allergic reaction (mild-mod delayed reactions) so does not involve immune system
  • Same GI Sx but not allergic features
  • Infants may be able to tolerate some cow’s milk just with Sx, same Mx
1382
Q

CMPA

What are the investigations for CMPA?

A
  • IgE mediated = skin prick tests + RAST for cow’s milk protein
  • Gold standard if doubt = elimination diet under dietician supervision
1383
Q

CMPA

What is the management for CMPA?

A
  • Breastfeeding mothers should avoid dairy
  • Replace formula with extensive hydrolysed formula
  • Amino acid-based formula if severe or no response to eHF
  • Food challenge may be performed in hospital setting
1384
Q

CMPA

How do hydrolysed and amino acid-based formulas work?

A
  • Proteins broken down so they no longer trigger an immune response
1385
Q

CMPA

How should allergic attacks be managed in CMPA?

A
  • Antihistamines or IM adrenaline (EpiPen) if severe reactions
1386
Q

CMPA
What food allergies present in children?
What are the types?
What is a food intolerance?

A
  • Infants (milk, egg, peanut), older (peanut, fish + shellfish)
  • IgE mediated = urticaria, angioedema, wheeze
  • Non-IgE = D+V, failure to thrive, abdo pain
  • Non-immunological hypersensitivity reaction to food
1387
Q

ALLERGIC RHINITIS
What is allergic rhinitis?
What can trigger it?

A
  • T1 hypersensitivity reaction that is IgE mediated, can be non-atopic where environmental allergens cause allergic inflammatory response in nasal mucosa
  • Tree pollen or grass (hayfever), house dust mites + pets, mould
1388
Q

ALLERGIC RHINITIS

What are the types of allergic rhinitis?

A
  • Seasonal (hayfever)
  • Perennial (year-round) e.g. house dust mite allergy
  • Occupational
1389
Q

ALLERGIC RHINITIS

What is the clinical presentation of allergic rhinitis?

A
  • Runny, blocked + itchy nose, sneezing
  • Red + swollen eyes
  • Post-nasal drip may cause cough
  • Associated with personal or FHx of atopy
1390
Q

ALLERGIC RHINITIS

What investigations for allergic rhinitis?

A
  • Skin prick testing for pollen, animals + house dust mite
1391
Q

ALLERGIC RHINITIS

What is the management of allergic rhinitis?

A
  • Avoid trigger, hoover + Change pillows regularly, good ventilation
  • PO antihistamines taken prior to exposure to reduce allergic Sx
  • Nasal corticosteroid sprays like mometasone to suppress local Sx
  • PO Montelukast or specific immunotherapy if poor control
1392
Q

ALLERGIC RHINITIS

What are the different types of antihistamines that can be taken for allergic rhinitis?

A
  • Non-sedating = cetirizine, loratadine
  • Sedating = chlorphenamine (Piriton) + promethazine
  • Nasal may be good option for rapid onset Sx in response to trigger
1393
Q

ANAPHYLAXIS

What is anaphylaxis?

A
  • Severe T1 hypersensitivity reaction where IgE stimulates mast cells to rapidly release histamine + other pro-inflammatory chemicals (mast cell degranulation)
1394
Q

ANAPHYLAXIS
What is a consequence of anaphylaxis?
What can trigger it?

A
  • Compromise in ABC = life-threatening medical emergency

- Foods (peanuts), insect stings, drugs, latex

1395
Q

ANAPHYLAXIS

What is the clinical presentation of anaphylaxis?

A
  • Rapid onset allergic Sx = urticaria, itching, angioedema with swelling around lips + eyes
  • Anaphylaxis Sx = SOB, wheeze, stridor (larynx swelling), tachycardia, light-headed + collapse
1396
Q

ANAPHYLAXIS

What investigation confirms anaphylaxis?

A
  • Serum mast cell tryptase within 6h of event = mast cell degranulation
1397
Q

ANAPHYLAXIS

What is the acute management of anaphylaxis?

A
  • Airway = secure
  • Breathing = oxygen, salbutamol to help wheeze, monitor SpO2, RR
  • Circulation = IV fluid bolus with collapse, monitor BP, ECG
  • Disability = lie pt flat to improve cerebral perfusion
  • Exposure = look for flushing, urticaria + angioedema
1398
Q

ANAPHYLAXIS

What medications can be given in anaphylaxis?

A
  • IM adrenaline (EpiPen if community), repeat after 5m if necessary
  • Antihistamines like chlorphenamine or cetirizine
  • Steroids like IV hydrocortisone
1399
Q

IMMUNE DEFICIENCY
What are the 2 broad types of immune deficiency?
When would you suspect immune deficiency?

A
  • Primary (uncommon) = intrinsic defect in the immune system
  • Secondary = due to another disease or treatment (HIV, nephrotic syndrome)
  • Severe, prolonged, unusual or recurrent (SPUR) infections
1400
Q

IMMUNE DEFICIENCY

What are the 6 types of immune deficiency?

A
  • T-cell defects
  • B-cell defects
  • Combined B- + T-cell defects
  • Neutrophil defect
  • Leucocyte function defect
  • Complement defects
1401
Q

IMMUNE DEFICIENCY
What are T-cell defects?
Give some examples

A
  • Severe/unusual viral + fungal infections + failure to thrive in first 2m
  • DiGeorge syndrome
  • HIV
  • Duncan syndrome (X-linked lymphoproliferative disease)
  • Ataxic telangiectasia
  • Wiskott-Aldrich
1402
Q

IMMUNE DEFICIENCY
List some features of…

i) Duncan syndrome
ii) ataxic telangiectasia
iii) Wiskott-Aldrich

A

i) Inability to respond normally to EBV so succumb to initial infection or develop secondary lymphoma
ii) Defect in DNA repair, increased risk of lymphoma > cerebellar ataxia + Developmental delay
iii) Triad with thrombocytopenia + eczema (X-linked)

1403
Q

IMMUNE DEFICIENCY
What are B-cell defects?
Give some examples

A
  • Present beyond infancy as passively acquired maternal antibodies, severe bacterial infections, esp. (lower) RTIs.
  • Selective IgA deficiency (#1)
  • X-linked (Bruton) agammaglobulinaemia
  • Common variable immune deficiency
1404
Q

IMMUNE DEFICIENCY
List some features of…

i) selective IgA deficiency
ii) X-linked agammaglobulinaemia
iii) CVID

A

i) Detected on screening for coeliac, normal IgM/G, IgA present in mucosal secretions
ii) Abnormal tyrosine kinase gene (essential for B cell maturation), all Ig classes affected
iii) B-cell deficiency, high risk of autoimmune + malignancies, later onset than ii)

1405
Q

IMMUNE DEFICIENCY

Give some examples of combined B- and T-cell disorders

A
  • Severe combined immunodeficiency = group of inherited disorders of profound defective cellular + humoral immunity
  • Hyper IgM syndrome = B cells produce IgM but prevented from IgG/A
1406
Q

IMMUNE DEFICIENCY
What do neutrophil defects lead to?
Give an example

A
  • Recurrent bacterial infections
  • Chronic granulomatous disease = X-linked recessive, defect in phagocytosis as fail to produce superoxide after ingestion
1407
Q

IMMUNE DEFICIENCY
What are leucocyte function defects?
Give an example

A
  • Delayed separation of umbilical cord, wound healing, chronic skin ulcers
  • Leucocyte adhesion deficiency = deficiency of neutrophil surface adhesion molecules so inability to migrate to sites of infection
1408
Q

IMMUNE DEFICIENCY
What are complement defects?
Examples

A
  • Recurrent bacterial infections (meningococcal, HiB, pneumococcus), SLE-like illness
  • Hereditary angioedema (measure C4 levels)
  • Mannose-binding lectin deficiency
1409
Q

IMMUNE DEFICIENCY

What are some investigations for immune deficiency?

A
  • FBC (WCC, lymphocytes, neutrophils)
  • Blood film
  • Complement
  • Immunoglobulins
1410
Q

IMMUNE DEFICIENCY

What prophylaxis should be given in immune deficiency?

A
  • T-cell + neutrophil = co-trimoxazole for PCP, fluconazole for fungal
  • B-cell = azithromycin for recurrent bacterial infections
1411
Q

IMMUNE DEFICIENCY

What is the management of immune deficiency?

A
  • Prompt, appropriate + longer Abx courses
  • Screen for end-organ disease (CT scan)
  • Ig replacement therapy if antibody deficient
  • Bone marrow transplantation for SCID, chronic granulomatous disease
1412
Q

CHILD ABUSE

What are some risk factors for child abuse?

A
  • Child = failure to meet expectations (disabled, wrong sex), born after forced or commercial sex work
  • Parent = MH issues, substance abuse, LD, young
  • Family = stepparents, domestic abuse, multiple or closely spaced births
  • Environment = low socioeconomic status
1413
Q

CHILD ABUSE

Give 3 examples of abuse

A
  • Emotional = persistent emotional mistreatment of a child resulting in adverse effects of a child’s emotional development
  • Sexual = forcing a child to take part in sexual activities
  • Neglect = persistent failure to meet a child’s basic physical + psychological needs
1414
Q

CHILD ABUSE

How might childhood sexual abuse present?

A
  • PV/PR bleed or itching
  • PV discharge
  • STIs
  • Bruising
  • Oversexualised child
  • Dilated anus
1415
Q

CHILD ABUSE
Give some examples of neglect
How might neglect present?

A
  • Inadequate food, drink, emotional support, clothing, shelter
  • Inadequate supervision or access to medical care = severe + persistent infections (scabies, lice), failure to engage with child health promotion, failure to attend follow-ups
1416
Q

CHILD ABUSE

What features in the history are suspicious for child abuse?

A
  • Too many injuries, wrong site, unusual shape or pattern
  • Delay in presenting (old injuries), multiple A&E visits
  • No Hx, Hx inconsistent with injuries or that changes
1417
Q

CHILD ABUSE

Where are normal and abnormal places for a child to bruise?

A
  • Shins, knees, elbows, toddlers can bump their heads

- Abdo, genitalia, insides of arms/legs, behind neck or other soft bits, young babies that cannot roll

1418
Q

CHILD ABUSE

What other features may raise alarms for child abuse?

A
  • # = metaphyseal, multiple # at different healing stages, posterior rib # in babies v. specific, radial, humeral, femoral
  • Bruising, burns, scalds, failure to thrive
  • Torn frenulum (forcing bottle into mouth)
1419
Q

CHILD ABUSE

What is the management for suspected child abuse?

A
  • FBC, clotting screen, bone profile, radiology
  • Developmental + social services assessment
  • If suspected > hospital admission + can break confidentiality
  • Fundoscopy for retinal haemorrhages
1420
Q

CHILD ABUSE
Why do you perform fundoscopy?
Other features?

A
  • Shaken baby syndrome = retinal haemorrhages, subdural haematoma + encephalopathy
1421
Q

CHILD ABUSE

What law is relevant to child abuse?

A
  • Child act 2004 allows to speak to child without parents’ consent, safeguards children
1422
Q

FAS
How much alcohol is safe in pregnancy?
What are some features of foetal alcohol syndrome?

A
  • None
  • Microcephaly
  • Short palpebral fissures, hypoplastic upper lip, small eyes, smooth philtrum
  • LDs, poor growth + cardiac malformations
  • Can have alcohol withdrawal Sx a birth = irritable, hypotonic, tremors
1423
Q

SWELLINGS + CYSTS
What is mastoiditis?
How does it present?
Management?

A
  • Med emergency as can cause meningitis, sinus thrombosis
  • External ear may protrude forwards, severe otalgia (classically behind), fever
  • Swelling, erythema + tenderness over mastoid process
  • Abx ±mastoidectomy
1424
Q

SWELLINGS + CYSTS
What is a thyroglossal cyst?
How does it present?
Management?

A
  • Persistence of thyroglossal duct
  • Midline, smooth + moves when they stick their tongue out
  • USS shows thin walled + anechoic (echoic suggests cyst infection)
1425
Q

SWELLINGS + CYSTS
Where would you find a branchial cyst?
How does it present?

A
  • Not in midline, tend to appear along border of sternocleidomastoid
  • 75% originate from second branchial cleft, often unilateral + smooth
1427
Q

SWELLINGS + CYSTS
What is a dermoid cyst?
Caution?
Investigation?

A
  • Found on lateral aspect of eye + produces sebaceous material
  • Can communicate intracranially causing meningitis
  • USS shows heterogeneous + have variable amounts of calcium + fat
1427
Q

SWELLINGS + CYSTS

What is a cystic hygroma?

A
  • Soft lesion in posterior triangle that transilluminates (seen in Turner’s)

Phase 3a Revision (11 decks)

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