Paediatrics Flashcards
What are some common causes of wheeze in children?
- Viral episodic wheeze - viral infections
- Multiple trigger wheeze - e.g. cold air, dust, exercise - might develop into asthma
- Asthma
Define viral-induced wheeze
An acute illness caused by viral infection.
Small children younger than 3 = small airways, easily inflamed (causing constriction) and develop oedema during viral infection (e.g. RSV)
This swelling and constriction of the airway causes a considerable larger restriction in airflow in a young child compared to an adult or older child
This causes a wheeze, and the ventilatory restriction leads to respiratory distress
Increased risk of developing asthma later in life
How do you differentiate viral-induced wheeze and asthma?
Not definitive, but usually viral-induced wheeze:
- Presenting before 3 years of age
- No atopic history
- Only occurs during viral infections
Asthma can also be triggered by viral or bacterial infections, however it also has other triggers, such as exercise
Asthma is diagnosed based on typical signs and symptoms as well as variable and reversible airflow obstruction.
Presentation and management of viral-induced wheeze
Viral illness for 1-2 days preceding the onset of:
- Shortness of breath
- Signs of respiratory distress
- Expiratory wheeze throughout the chest
TIP: VIW + asthma does not cause focal wheeze, if focal wheeze then senior review and investigation for airway obstruction
Mx: same as acute asthma
Define asthma
Asthma is a chronic inflammatory airway disease leading to variable airway obstruction. The smooth muscle in the airways is hypersensitive and responds to stimuli by constricting and causing airflow obstruction.
Bronchoconstriction is reversible with bronchodilators e.g. salbutamol
Clinical features that indicate likely asthma in a child
- Dry cough with wheeze and shortness of breath
- Diurnal variability, typically worse at night and early morning
- Interval symptoms, i.e. symptoms between acute exacerbations
- Personal /FHx of asthma or other atopic conditions
- Non-viral triggers e.g. dust, exercise, cold air
- Bilateral widespread “polyphonic” (multiple pitch) wheeze heard by a HCP
- Symptoms improve with bronchodilators
How would you describe a wheeze to a parent and child?
A whistling in the chest when your child breaths out and ask if that fits with their child’s symptoms.
Investigations to diagnose asthma
Clinical diagnosis by history and examination + review if under 5
Usually when child is 2 - 3 years old
Diagnosis confirmed if response to trial of treatment
If diagnostic doubt, the following investigations can help:
- Fractional exhaled nitric oxide (FeNO) - tests inflammation in airways, over 35ppb = positive
- Spirometry (FEV1:FVC < 0.8) with reversibility testing (> 5 years), 12% or mor eimprovement in PERF = asthma likely (note that Quesmed says this is first line, aligned with NICE)
- Peak flow variability measured by keeping peak flow measurements diary several times a day for 2 to 4 weeks
What questions should you ask if you suspect asthma in a child?
Pattern and phenotype
- How frequent are the symptoms?
- What triggers the symptoms? Specifically, are sports and general activities affected?
- How often is sleep disturbed by asthma?
- How severe are the interval symptoms between exacerbations?
- How much school has been missed due to asthma?
Medical therapy for asthma in children <5
Stepwise, move up and down the treatment ladder depending on the severity
- Start a short-acting beta-2 agonist inhaler (SABA e.g. salbutamol) as required
- Add a low dose corticosteroid inhaler or a leukotriene antagonist (i.e. oral montelukast)
- Add the other option from step 2
- Refer to a specialist
Medical therapy for asthma in children 5 - 16
- SABA (e.g. sabutamol)
- Low-dose corticosteroid inhaler (e.g. belcometasone)
- Oral leukotriene receptor antagonist (e.g. montelukast)
- Long-acting beta-2 agonist (LABA) inhaler (e.g. salmeterol). Stop LTRA if not effective
- Single reliever and maintenance therapy (MART) inhaler, has low dose ICS + LABA
- Titrate the corticosteroid inhaler to a medium dose.
- Referral to a specialist. HIgh dose ICS etc.
Possible exam question:
Discussing inhaled steroids
with a parent who is worried about potential side effects - often about whether they slow growth.
Your answer: Evidence that inhaled steriods can slightly reduce growth velocity and reduce adult height up to 1cm when used long term (>12m). Dose-dependent, smaller dose, less of a problem.
Worth putting into context for the parent that steroids are effective meds to help prevent poorly controlled asthma and asthma attacks - which can lead to higher steroid dose.
Poorly controlled asthma can lead to a more significant impact on growth and development. The child will also have regular asthma reviews to ensure they are growing well and on the minimal dose required to effectively control symptoms.
Define acute asthma/asthma exacerbations in children
A rapid deterioration in the symptoms of asthma. This could be triggered by any typical asthma triggers, such as viral respiratory infection, exercise or cold weather.
Clinical features of asthma exacerbation
- Progressively worsening SOB
- Signs of respiratory distress - e.g. using accessory muscles to breathe
- Fast respiratory rate (tachypnoea)
- Expiratory wheeze on auscultation
- The chest can sound “tight” on auscultation, with reduced air entry
What is silent chest and why is it a sign of life-threatening asthma?
Where the airways are so tight that the child cannot move enough air through the airways to create a wheeze.
Can be associated with reduced resp effort due to fatigue.
A less experienced clinician might think that the child is not as unwell because there is no wheeze and resp distress, in reality this a silent chest and it is life threatening.
Criteria for moderate asthma (from the BTS/SIGN guidelines 2016)
- Peak flow > 50% predicted
- Able to speak
- O2 sats > 92%
Criteria for severe asthma
- Too breathless to talk
- O2 sats <92%
- Peak flow 33%–50% [best]
Respiratory rate
- > 40 breaths/min < 5 years
- > 30 breaths/min > 5 years
Heart rate
- > 140 beats/min < 5 years
- > 125 beats/min > 5 years
Criteria for life-threatening asthma
Mnemonic 33,92 CHEST. Any one of the following:
- PERF <33%
- O2 <92% or PO2 <8
- Cyanosis
- Hypotension
- Exhaustion, altered consciousness
- Silent chest or poor respiratory effort
- Tachyarrhythmias
Management of asthma exacerbation in children
General:
- Supplementary oxygen if < 94% or working hard
- Bronchodilators
- Steroids: prednisone (orally) or hydrocortisone (IV)
- Antibiotics if bacterial cause suspected
Bronchodilators used in the management of asthma exacerbation
Stepped up as required
- Inhaled or nebulised salbutamol
- Inhaled or nebulised ipratropium bromide (an anti-muscarinic) alongside with oral or IV steroids if needed
- IV magnesium sulphate
- IV aminophylline
Mnernoic for management of asthma exacerbation
O SHIT ME
O2
Salbutamol
Hydrocortisone (or predinisolone)
Ipratropium
Theophylline
Magnesium sulphate
Escalate care (intubation and ventilation)
Define pneumonia
Infection of the lung tissue. It causes inflammation of the lung tissue and sputum filling the airways and alveoli.
Seen as consolidation on CRX
Caused by bacteria or viruses
Presentation of pneumonia in children
- Cough (productive)
- High fever (> 38.5ºC)
- Tachypnoea
- Tachycardia
- Lethargy
- Delirium (acute confusion associated with infection)
Causes of pneumonia in children
- Newborn – group B strep
Infants and young children
- Viral - RSV (Respiratory syncytial virus)
- Bacterial - Streptococcus pneumonia, most common in > 5 years
- Consider Mycobacterium tuberculosis at all ages
Signs of pneumonia in children
Derangement in basic obs can indicate sepsis 2nd to pneumonia
- Tachypnoea (raised respiratory rate)
- Tachycardia (raised heart rate)
- Hypoxia (low oxygen)
- Hypotension (shock)
- Fever
- Confusion
Investigations for pneumonia in children
- CXR is gold standard (not routinely required but helpful when doubt or severe)
To find causative agent:
- Sputum culture
- Throat swabs for bacterial cultures
- Viral PCR
If sepsis suspected:
- Blood cultures
- Capillary blood gas to monitor lactate, and resp or metabolic acidosis
Management of pneumonia in children
- Abx according to local guidelines
- 1st line: usually amoxicillin +/- macrolide e.g. clarithromycin to cover atypical pneumonia or if penicilin allergy
- IV abx if sepsis
- O2 used to keep sats > 92% (15L 100%)
Define cystic fibrosis
- An autosomal recessive condition that is caused by a defective protein called CF transmembrane conductance regulator (CFTR), a cyclic AMP-dependent
chloride channel in cell membranes. - Gene on chromosome 7.
- Most common mutation in the UK (78%) is Δ (delta) F508
Epidemiology of CF
- 1 in 2500 live births
- 1 in 25 carriers
Pathophysiology of CF
The mutation means that there is abnormal transport of ions across the cell membranes of epithelial cells.
Key consequences
Thick pancreatic and biliary secretions = blockage of the ducts = lack of digestive enzymes such as pancreatic lipase in GI tract
- Thick airway secretions that reduce airway clearance, resulting in bacterial colonisation and susceptibility to airway infections
- Congenital bilateral absence of the vas deferens in males.
Patient has healthy sperm but cannot travel from testes to ejaculate = infertility
Clinical features of CF
Newborn
- Diagnosed through newborn screening (heel-prick)
- Meconium ileus (meconium blocks ileum)
Infancy/children
- Prolonged neonatal jaundice
- Failure to thrive
- Recurrent chest infections
- Malabsorption, steatorrhoea
- Abdominal pain + bloating
What signs would you see in a child with CF?
- Low weight or height on growth charts
- Nasal polyps
- Finger clubbing
- Crackles and wheezes on auscultation
- Abdominal distension
Investigations for CF
Need to know for exams:
- Newborn blood spot testing picks up most cases
- The sweat test = gold standard for diagnosis
Genetic testing for CFTR gene during pregnancy by amniocentesis, or newborn blood test
Describe the sweat test
Remember this test! Gold standard for confirming diagnosis
Pilocarpine is applied on patch of skin
Electrodes placed either side of the skin, small currents run through and cause skin to sweat
Lab-issued gauze/filter paper absorbs sweat and sent to lab for chloride conc testing.
Diagnostic chloride concentration > 60mmol/l.
Microbial colonisation in CF
Patients struggle to clear the airway secretions = perfect moist, warm environment for bacteria
Key colonisers for exams
- Staphylococus aureus
- Pseudomonas
Treatment = long-term prophylactic flucloxacillin to prevent SA infection
Pseudomonas (BAD GUY!) = hard to treat and worsens prognosis, treated with long term nebulised antibiotics
Management for CF
- Specialist MDT
- Daily chest physio = clear mucus and reduces infection risk
- Exercise improves respiratory function and reserve, and helps clear sputum
- A high-calorie diet is required for malabsorption
- CREON tablets for pancreatic insufficiency (replaces missing lipase enzymes)
- Prophylactic flucloxacillin tablets
- Treat chest infections
- Bronchodilators such as salbutamol
- Nebulised DNase (dornase alfa) = enzyme to make secretions less viscous and easier to clear
- Nebulised hypertonic saline
Vaccinations for pneumococcal, influenza and varicella
Monitoring for CF
Managed and followed-up in specialist CF clinics, about every 6m
Monitoring of sputum and bacterial colonisation e.g. pseudomona
Also monitoring and screening for diabetes, osteoporosis, vitamin D deficiency and liver failure.
Prognosis for CF
Prognosis depends on multiple factors, including severity of symptoms, type of genetic mutation, adherence to treatment, frequency of infection and lifestyle.
Life expectancy improved to around 47yo
- 90% develop pancreatic insufficiency
- 50% of adults develop cystic fibrosis-related diabetes and need insulin
- 30% develop liver disease
Define bronchiolitis
Bronchiolitis describes inflammation and infection in the bronchioles, the small airways of the lungs.
The commonest cause is RSV - respiratory syncytial virus.
Common in < 1 year olds
Most common < 6m
Sometimes up to 2 years old, particularly ex-premature babies with chronic lung diseases
Presentation of bronchiolitis in children
- Coryzal symptoms. = viral upper respiratory tract infection: running or snotty nose, sneezing, mucus in throat and watery eyes.
- Signs of respiratory distress
- Dyspnoea
- Tachypnoea
- Poor feeding
- Mild fever (under 39ºC)
- Apnoeas
- Wheeze and crackles on auscultation
What are the signs of respiratory distress in children?
Remember this very well, foundations of paeds to spot respiratory distress!
- Raised respiratory rate
- Use of accessory muscles of breathing, such as the sternocleidomastoid, abdominal and intercostal muscles
- Intercostal and subcostal recessions
- Nasal flaring
- Head bobbing
- Tracheal tugging
- Cyanosis
- Abnormal airway noises
Describe the typical course of bronchiolitis caused by RSV
- URTI with coryzal symptoms, 50% recover
- 50% develop chest symptoms within 1 - 2 days
- Symptoms worst on day 3 or 4.
- Symptoms usually last 7 to 10 days
- Full recovery within 2 - 3 weeks
Criteria for admission into hospital for a child with bronchiolitis
Most infants can be managed at home with safety netting advice
Reasons to admit:
< 3 months or pre-existing condition such as prematurity or CF
- ≤ 50 – 75% of normal milk intake
- Clinical dehydration
- Respiratory rate > 70
- O2 sats < 92%
- Moderate to severe respiratory distress
- Apnoeas
- Parents cannot manage or access medical help from home
Management of bronchiolitis
Typically only supportive management
Ensuring adequate intake, oral, NG tube or IV fluids
Saline nasal drops and nasal suctioning
Supplementary oxygen if O2 < 92%
Ventilatory support if required - e.g. high-flow humidified oxygen
How do you monitor a child for respiratory distress having ventilatory support?
Capillary blood gas (taken from big toe)
Signs of poor ventilation
- Rising pCO2 - indicates airway collapse
- Falling pH - CO2 build-up and failing to buffer the resulting respiratory acidosis
What is palivizumab?
Monoclonal antibody that targets RSV.
Monthly injection for high-risk babies e.g. ex-premature and those with congenital heart disease
Passive protection by circulating antibodies, and does not activate the baby’s immune system until virus is encountered.
Describe abnormal airway sounds in children
- Wheezing- whistling sound caused by narrowed airways, typically heard during expiration
- Grunting is caused by exhaling with the glottis partially closed to increase positive end-expiratory pressure
- Stridor is a high pitched inspiratory noise caused by obstruction of the upper airway, for example in croup
Define acute epiglottis
Intense swelling of the
epiglottis (tissue that covers the trachea when swallowing) and surrounding tissues associated with septicaemia.
Life-threatening emergency due to the high risk of respiratory obstruction.
Cause of acute epiglottis
H.influenza type B (Hib), introduction of vaccine in infants reduced incidence by 99%
Clinical features of acute epiglottis
Very acute onset with:
- High fever in a very ill, toxic-looking (septic) child
- intense painful throat that prevents the child from speaking or swallowing = drooling saliva
- Soft inspiratory stridor and increasing respiratory difficulty over hours
- Child sitting upright and immobile with mouth open to optimise airflow
Viral croup and acute epiglottis can present similarly, what are the differences between them? Correct diagnosis is essential so correct treatment can be given
Onset: croup days, epiglottis hours
Preceding coryza: croup: yes, epiglottis: no
Able to drink: croup: yes, epiglottis: no
Drooling saliva: croup: no, epiglottis: yes
Appearance: croup: unwell, epiglottis: toxic, very ill
Fever: croup: <38.5°C epiglottis: >38.5°C
Stridor: croup: harsh, rasping, Epiglottis: soft, whispering
Voice, cry: croup: hoarse, epiglottis: muffled, reluctant to
speak
Investigations for acute epiglottis
If acute epiglottis suspected, then urgent hospital admission and treatment need to be commenced. Do not do investigations, and do not lie child down or exam throat with spatula as it can contribute to resp obstruction and death.
Lateral neck x-ray = characteristic “thumb sign” or “thumbprint sign”. s a soft tissue shadow that looks like a thumb pressed into the trachea.
Caused by oedematous and swollen epiglottis.
Treatment for acute epiglottis
- Remain calm and organised to reduce anxiety
- Call most senior paediatrician and anaesthetist available
- Management focuses on ensuring that the airway is secure, intubation or tracheostomy - not required but should be prepared to do so if upper airways close
- When intubated, transfer to ICU
Additional treatment once the airway is secure:
- IV antibiotics (e.g. cefotaxime or ceftriaxone)
- Steroids (i.e. dexamethasone)
Prognosis of acute epiglottis
With right treatment, recovery in 2-3 days
Complication: epiglottic abscess = a collection of pus around the epiglottis.
Life-threatening and treatment is similar to acute epiglottis
Define croup
Croup is an acute infective respiratory disease, typically in children aged 6m to 2y but can be older.
It is a URTI that causes oedema in the larynx.
Classic cause for exams = parainfluenza virus
Usually improves < 48 hours and responds well to steroids particularly dexamethasone
Clinical presentation of croup
- Increased work of breathing
- “Barking” (like a sea lion) cough,in clusters of coughing episodes
- Hoarse voice
- Stridor
- Low-grade fever
- Start and worse at night
Management of croup
Most cases = supportive treatment at home (fluids and rest).
Admission if
- Stridor and/or sternal recession at rest
- High fever
- Respiratory rate > 60
- Cyanosis
- Lethargy or agitation
- Fluid intake < 75% of normal or no wet nappies for 12 hours
- Aged under 3 months
- Chronic conditions
1st line - oral dexamethasone very effective, single dose of 150 mcg/kg, and repeated after 12hrs if needed. Predinisolone as alternative
Neubilised adrenaline for temporary symptom relief
Causes of hearing loss in children
Congenital, or acquired
Congenital
- Maternal rubella or cytomegalovirus infection during pregnancy
- Genetic deafness can be autosomal recessive or autosomal dominant
Perinatal
- Prematurity
- Hypoxia during or after birth
After birth
- Jaundice
- Meningitis and encephalitis
- Otitis media or glue ear
- Chemotherapy
Screening for hearing loss in children
The UK newborn hearing screening programme (NHSP) - ideally at 4 - 5 weeks, but up to 3 months.
Special equipment delivers sound to each eardrum and identifies response - detects congenital hearing problems
Clinical presentation of hearing loss in children
Parental concern over hearing and behavioural changes associated with not being able to hear
- Ignoring calls or sounds
- Frustration or poor behaviour
- Poor speech and language development
- Poor school performance
Investigations for hearing loss
- < 3 years old = basic response to sound (e.g. turning head towards sound)
- Audiometry for older children - test with headphones and specific tones and volumes
- Results are recorded on an audiogram - identify and differentiate between sensorineural or conductive hearing loss
Describe how an audiogram is used and interpreted
- Frequency (Hz) on x-axis
- Volume (dB) on y-axis - ascending loud to quiet
- Hearing tested to establish minimum volume (dB) required for patient to hear different frequencies (Hz)
- Air and bone conduction tested separately in each ear (normal = 0 - 20dB)
Sensorineural hearing loss - both air and bone conduction > 20dB
Conductive hearing loss = bone conduction reading normal but air conduction readings > 20dB
Mixed = both air and bone conduction > 20dB, but bone conduction > air conduction by 15dB or more
Management for hearing loss
MDT approach
- Speech and language therapy
- Educational psychology
- ENT specialist
- Hearing aids for children who retain some hearing
- Sign language
Define otitis media
Infection in the middle ear - space between tympanic membrane and inner ear - contains cochlea, vestibular apparatus and nerves
Cause of otitis media
Preceded by viral URTI, bacteria enter the ear from back of throat through the eustachian tube
Most common bacteria = streptococcus pneumoniae
Others include Haemophilus influenzae and staphylococcus aureus
Presentation of otitis media
- Ear pain
- Reduced hearing
- URTI symptoms e.g. fever, cough, coryzal symptoms, sore throat, generally unwell
- Vertigo and balance issues if vestibular system is affected
- Discharge if tympanic membrane perforated
Symptoms can be non-specific, especially in young children and infants - fever, vomiting, irritability, lethargy or poor feeding - worth examining ears!
Investigations for otitis media
Examination of both ears and throat of unwell children as they are common sites of infection that produce non-specific symptoms.
Use a otoscope
Normal tympanic membrane = pearly grey, translucent and slightly shiny + malleus visible through membrane
Otitis media = bulging, red, inflamed membrane
Management of otitis media
If symptoms severe or diagnostic doubt - consider referral to paeds
Always specialist referral and consider admission in < 3m olds with temp > 38 or 3-6m with temp > 39
Most cases resolve without abx within 3 days and NICE 2018 recommends not prescribing abx for OM
When would you consider abx for OM?
Three options:
- Immediate abx - patients with significant comorbidities, systemically unwell or immunocompromised
- Delayed abx - prescription of abx for use and collection after 3 days if no improvement or worsened
- Perforated eardrum
1st line = amoxicillin for 5 days
Safety net, eduction and advice to patients and parents on when to seek further medical attention
Complications of OM
- Otitis media with effusion
- Hearing loss (usually temporary)
- Perforated eardrum
- Recurrent infection
- Mastoiditis (rare)
- Abscess (rare)
Define glue ear
Glue ear is otitis media with effusion. The middle ear becomes full of fluid, causing a loss of hearing in that ear.
The Eustachian tube connects the middle ear to the back of the throat, helping drain secretions. If blocked then secretions will build up in middle ear.
Group and save vs cross match
Checking what blood type the patient has and checking the transfusion blood is a match, not prepared blood
Cross match - same as above but requesting a specific number of blood from the lab to be available immediately
Main symptom of glue ear
Reduction of hearing in affected ear
Investigations for glue ear
Otoscopy - a dull tympanic membrane with air bubbles or a visible fluid level, although it can look normal.
Management for glue ear
Referral for audiometry to establish diagnosis and extent of hearing loss.
Conservative treatment and usually resolves in 3 month
If co-morbidities affecting ear structure e.g. Down’s syndrome or cleft palate might need hearing aids or grommets
What are grommets?
Tiny tubes inserted into the tympanic membrane by the ENT surgeon
This allows fluid from the middle ear to drain through the tympanic membrane to the ear canal.
Inserted under GA as a day case
Grommets usually fall out within a year, 1 in 3 will require further grommet insertion
Define squint
Squint refers to misalignment of the eyes, aka strabismus.
This results in the images on the retina not matching and the person will experience double vision.
Types of squints
- Strabismus: the eyes are misaligned
- Amblyopia: the affected eye becomes passive and has reduced function compared to the other dominant eye, as the brain has learnt to ignore signals from the affected eye
- Esotropia: inward-positioned squint (affected eye towards the nose)
- Exotropia: outward positioned squint (affected eye towards the ear)
- Hypertropia: upward moving affected eye
- Hypotropia: downward moving affected eye
Causes of squint
Usually idiopathic in healthy children
- Hydrocephalus
- Cerebral palsy
- Space-occupying lesions e.g. retinoblastoma
- Trauma
Investigations for squint
- General inspection
- Eye movements
- Fundoscopy (or red reflex) to rule out retinoblastoma, cataracts etc.
- Visual acuity
Hirschberg’s test
- Pen-torch shone in patient’s eye from 1m away, observe reflection on their cornea, normally central and symmetrical.
- Deviation indicates a squint
Cover test
Cover one eye and ask patient to focus on object in front of them, move cover across to opposite eye.
If previously covered eye moves inwards = drifted outwards when covered = exotropia
if it moves outwards = drifted inwards when covered (esotropia).
Management of squint
- Treatment needs to start before 8yo as visual fields develop until then., otherwise squint becomes permanent
- Managed by an ophthalmologist
- Treat underlying pathology
- Occlusive patch - covers good eye to allow weaker eye to develop
- Atropine drops - blurs vision in good eye
What is periorbital cellulitis?
Infection of tissues in the eyelid or skin around the eyes - unilateral.
Main clinical features: fever, erythema, tenderness and oedema around the affected eyelid.
Treatment for periorbital cellulitis
Prompt IV antibiotics such as high-dose ceftriaxone to prevent spread of infection causing orbital cellulitis.
Pathophysiology of VSD
Usually, the pressure in LV > RV, so blood flows from LV to RV via the VSD = acyanotic because blood is oxygenated.
However, left to right shunt leads to right-sided overload, RHF and pulmonary HTN
Over time, this increases RV pressure and causes right to left shunt, bypassing lungs = deoxygenated blood in systemic circulation = patient cyanotic, known as Eisenmenger syndrome
Define ventricular septal defect (VSD)
A congenital defect (hole) in the septum between the two ventricles. Varies from small (≤3mm) to entire septum.
Usually associated with genetic conditions such as Down’s Syndrome and Turner’s Syndrome.
Clinical features of VSD
- Picked up on antenatal scans
- Newborn baby check - murmur
However, often symptomless and can present in adulthood.
If symptoms, typically:
- Poor feeding
- Dyspnoea
- Tachypnoea
- Failure to thrive
Examinations:
- Pan-systolic murmur - prominently at left lower sternal border in 3rd + 4th intercostal space
Differentials for pan-systolic murmur
- Ventricular septal defect
- Mitral regurgitation
- Tricuspid regurgitation.
Management of VSD
Paediatric cardiologist
Small VSD with no symptoms = monitoring as they can close spontaneously
Surgery:
Transvenous catheter closure via the femoral vein or open heart surgery.
Increased risk of infective endocarditis, so prophylactic abx should be considered during surgery
Types of atrial septal defects (ASD)
- Secundum ASD (80%) - deficiency of the foramen ovale and surrounding atrial septum
- Partial atrioventricular septal defect (AVSD or
primum ASD) - deficiency of atrioventricular septum
Clinical features of ASD
Acyanotic heart disease as left to right shunt
Symptoms
- None (commonly)
- Poor feeding, failure to thrive
- Recurrent chest infections/wheeze
- Arrhythmias (40+)
Signs
- Hepatomegaly
- Oedema
- Ejection systolic murmur particularly at the upper left sternal edge, due to increased flow across the pulmonary valve due to L to R shunt
- Partial ASD - apical pan systolic murmur from AV valve regurgitation.
Investigations for ASD
- CXR - cardiomegaly,
enlarged pulmonary arteries and increased pulmonary vascular markings - Echocardiogram to determine anatomy - gold standard
Management for ASD
- Treatment is needed if ASD is large enough to cause right-heart dilatation.
- Secundum ASD - cardiac catheterisation to insert occlusion device to close the hole
- Partial AVSD = surgical correction
- 3-5 years old to prevent right heart failure and arrhythmias in later life.
Define coarctation of the aorta
A congenital condition where there is narrowing of the aortic arch, usually around the ductus arteriosus
Mild to severe
Usually associated with TUrner’s syndrome
This narrowing reduces blood pressure flowing to distal arteries and increases BP in areas proximal to the narrowing, such as the heart and the first three branches of the aorta.
Clinical features of coarctation of the aorta
- Very sick baby - grey and floppy
- Poor feeding
Signs
- Normal in 1 day after birth, then present with acute resp collapse once duct closes (if severe)
- Neonates: weak/absent femoral pulses
- Severe heat failure
- Four limb BP will reveal HTN in limbs supplied by arteries before the narrowing, low BP in limbs supplied by arteries after the narrowing
Investigations for coarctation of aorta
CXR - cardiomegaly from heart failure and shock if severe
ECG - normal
Management of coarctation of aorta
Mild - watch and wait as often symptom-free until adulthood
Severe - emergency surgery shortly after birth
- Prostaglandin E (Alprostadil) given to keep ductus arteriosis patent while waiting for surgery to allow for blood flow to distal circulation
Surgery is then performed to correct the coarctation and to ligate the ductus arteriosus.
What is the ductus arteriosus?
A blood vessel present in the fetus in the womb that connects the pulmonary artery to the aorta - shunting oxygenated blood straight into the aorta, bypassing the fetal lungs.
What is patent ductus arteriosus (PDA)
The ductus arteriosus normally stops functioning shortly after birth and closes within 2-3 weeks.
PDA is the failure of it to close.
Risk factors of PDA
- Prematurity
- Maternal rubella infection
- Female sex
- <3m
Pathophysiology of PDA
Aorta pressue > pulmonary vessels
pressure
Bloods from aorta flows into pulmonary artery = left to right shunt, leading to pulmonary hypertension and RH strain as the RV struggles to contract against increased resistance.
This leads to right ventricular hypertrophy, which increases blood flow to the pulmonary vessels and returning the LH leading to LVH.
Presentation of PDA
- Shortness of breath/ tachypnoea
- Difficulty feeding
- Poor weight gain
- Lower respiratory tract infections
Sometimes patients with PDA can be asymptomatic in childhood and present with heart failure as an adult
Signs:
Continuous crescendo-decrescendo “machinery” murmur that can continue during the second heart sound, making the S2 hard to hear
How is PDA diagnosed?
Echocardiogram = investigation of choice
Doppler flow studies during the echo can determine the size of the LtoR shunt and check for RVH + LVH.
Management for PDA
- Symptomatic preterm infants: Ibruprofen as NSAIDs effective in promoting ductal closure.
- Term infants and children with small/moderate PDA: trans-catheter closure to prevent heart failure
- Large ducts - surgical ligation
DIfferntials for PDA
- Coarctation of the aorta
- ASD
- Pulmonary hypertension
Define paediatric aortic stenosis
Congenital aortic valve stenosis are born with a narrow aortic valve that restricts blood flow from the LV into the aorta
The aortic valve is usually made up of 3 leaflets, which prevents backflow of blood from the aorta into the LV.
Patients with aortic stenosis may have one, two, three or four leaflets.
Clinical features of aortic stenosis
- Most common is an asymptomatic murmur
- Severe stenosis = reduced exercise tolerance, chest pain on extortion or syncope
- Neonates with critical aortic stenosis and duct-dependent circulation may present with severe heart failure leading to shock
Signs
- Ejection systolic murmur loudest at aortic area (2nd ICS, right sternal border) - crescendo-decrescendo
- Carotid thrill (always)
Investigations for aortic stenosis
Echocardiogram - normal or prominent LV with post-stenotic dilatation of ascending aorta
Treatment for aortic stenosis
Regular monitoring with echocardiograms to know when to intervene, and treatment options:
Symptomatic on exercise: balloon valvuloplasty, using a balloon to open the narrowed valves.
Significant aortic valve stenosis - aortic valve eventually. Early palliative treatment to delay this
Possible complications of aortic stenosis
- Left ventricular outflow tract obstruction
- Heart failure
- Ventricular arrhythmia
- Infective endocarditis
- Sudden death, often on exertion
Define pulmonary valve stenosis
The pulmonary valve usually has leaflets. If they develop abnormally, they can become thickened or fused, which causes a narrowing between the pulmonary artery and RV - this is known as congenital pulmonary valve stenosis.
What conditions is pulmonary valve stenosis associated with?
- Tetralogy of Fallot
- William syndrome
- Noonan syndrome
- Congenital rubella syndrome
Clinical features of pulmonary valve stenosis
- Often asymptomatic murmur
- More significant stenosis can present with fatigue on exertion, shortness of breath, dizziness and fainting.
Signs
- Ejection systolic murmur heard loudest at the pulmonary area (2nd ICS, left sternal border)
- Palpable thrill in the pulmonary area
- RV heave due to RVH
- Raised JVP with giant A waves
Diagnosis and treatment of pulmonary valve stenosis
- Echocardiogram = gold standard
- Mild = watch and wait and followed up by cardiologist
Symptomatic or moderate - balloon valvuloplasty with venous catheter. Catheter inserted under x-ray guidance via femoral vein to IVC to RH and valve is dilated by inflating a balloon
Open-heart surgery if above is ineffective
Define Tetralogy of Fallot (TOF)
A congenital heart condition that combines 4 pathologies:
- Ventricular septal defect (VSD)
- Overriding aorta
- Pulmonary valve stenosis
- Right ventricular hypertrophy
Pathophysiology of TOF
- Pulmonary valve stenosis - restrictss the flow of deoxygenated blood from RV to the pulmonary artery
- Right ventricular hypertrophy - RV compensates for increased resistance by undergoing hypertrophy (boot-shaped heart)
- Ventricular septal defect (VSD) - gap between the RV and LV, which allows shunting of blood between them. Due to RV hypertrophy, pressure in the RV > LV and deoxygenated blood is shunted from RV to LV
- Overriding aorta - aorta entrance sits above the septal defect, meaning that a greater proportion of deoxygenated blood enters the aorta and systemic circulation from RV
Risk factors for TOF
- Rubella infection
- Maternal age > 40
- Alcohol consumption in pregnancy
- Diabetic mother
Clinical features of TOF
- Most picked up on antenatal scans
- Cyanosis
- Clubbing
- Poor feeding
- Poor weight gain
Signs
- Ejection systolic murmur heard loudest in the pulmonary area (second intercostal space, left sternal border)
- “Tet spells”
What are tet spells?
This is when the right to left shunt in TOF temporarily worsens, e.g. during exertion. This will precipitate a cyanotic episode.
What helps alleviate a tet spell?
Older children may squat, younger children = position their knees to their chest - this increases systemic vascular resistance = more blood into the pulmonary vessels
Medical management by experienced paediatrician if lasts > 15mins
- O2 in hypoxic children
- Beta-blockers to relax RV
- IV fluids to increase pre-load
- Morphine to reduce respiratory drive and improve breathing
- Sodium bicarbonate for metabolic acidosis
- Phenylephrine infusion to increase systemic vascular resistance
Investigations for TOF
CXR - boot-shaped heart, normal shape does not rule out TOF
Echocardiogram is gold standard and will show the four cardinal features
ECG - normal at birth then RVH when older
Management for TOF
- In neonates, a prostaglandin infusion to maintain the ductus arteriosus, allows blood flow from aorta back to the pulmonary arteries
- Definitive treatment at 6 months with total surgical repair through open heart surgery is the definitive treatment. 5% mortality.
90% will live into adulthood with corrective surgery
Define transposition of the great arteries
This is a condition where the attachments of the aorta and the pulmonary artery to the heart are swapped (“transposed”).
The aorta is connected to the right ventricle and the pulmonary artery is connected to the left ventricle.
The deoxygenated oxygen is returned to the body and the oxygenated blood is returned to the lungs.
Parallel circulation with no mixing of blood and is incompatible with life, unless there is mixing through VSD, ASD or PDA which allow a shunt between the systemic circulation and pulmonary circulation.
Clinical features of transposition of the great arteries
- Usually picked up on antenatal scans
- Cyanosis will always be present
- A shunt created by VSD, ASD or PDA usually compensates by allowing the mixing of pulmonary and systemic circulation
- However, the child will present with poor feeding, poor weight gain respiratory distress, and tachycardia within a few weeks of birth
Investigations of transposition of the great arteries
Gold standard is echocardiogram and will show abnormal arterial
connections and associated abnormalities.
MAnagement of transposition of great arteries
VSD will buy some time before the definitive treatment
In PDA, a prostaglandin infusion will ensure patency
- Balloon septostomy will create a large ASD to allow blood returning from lungs to left side to flow into right side and then systemic circulation
- Definitive management is open heart surgery. A cardiopulmonary bypass machine used to do an “arterial switch” soon after birth.
VSD or ASD also corrected if present
Define paediatric heart failure
A complex clinical syndrome in which the heart, due to structural or functional defects, cannot pump enough blood to meet the metabolic needs of the child’s body.
Clinical features of heart failure
Symptoms
- Breathlessness (particularly on feeding or exertion)
- Sweating
- Poor feeding
- Recurrent chest infections
Signs
- Poor weight gain or faltering growth
- Tachypnoea
- Tachycardia
- Heart murmur, gallop rhythm
- Enlarged heart
- Hepatomegaly
- Cool peripheries
Causes of heart failure in children
Neonates - usually due to left-heart obstruction e.g. critical aortic valve stenosis, severe coarctation of the aorta
Infants - VSD, ASD, persistent PDA
Older children - Eisenmenger syndrome, rheumatic heart disease
Investigations for heart failure in children
Blood tests: FBC, U+Es, LFTs, CRP, TFTs, bone profile, Magnesium, B-type natriuretic peptide (BNP)
Imaginig: CXR, echocardiogram, ECG
Management of heart failure in children
Depends on underlying cause
- Conservative: Fluid restriction and dietitian-guided feeding plans
- Medical: diuretics with inotropes if required
Surgical: correction of the anatomical defect if present; heart transplant in end-stage cases
Define acute rheumatic fever
A short-lived, multisystem autoimmune response to a preceding infection with group A β-haemolytic streptococcus.
Mainly affects children aged 5 - 15
Progresses to rheumatic heart disease in up to 80% of cases
Define chronic rheumatic heart disease
If rheumatic fever remains untreated, it can progress into chronic rheumatic heart disease
The most common is mitral stenosis from long-term scarring and fibrosis. However, aortic, tricuspid and rarely pulmonary valves can be affected.
Clinical features of rheumatic fever
- Pharyngeal or skin infection
- Latent interval of 2-6 weeks
- Then polyarthritis, mild fever and
malaise
Rare in the developed world because of improvements in living conditions, antibiotics for streptococcal pharyngitis
Criteria for the diagnosis of rheumatic fever
Jonas criteria - two major or one major and one minor and evidence of preceding group A streptococcal infection
5 major manifestations
- Carditis (50%)
- Migratory arthritis (80%)
- Sydenham chorea (10%)
- Erythema marginatum (5%) - rash on trunk and limbs
4 minor manifestations
- Fever (≥38.5°C)
- Polyarthralgia
- Elevated ESR or CRP
- Prolonged PR interval on electrocardiogram.
Management of acute rheumatic fever
- Bed rest
- High-dose aspirin to reduce the inflammatory response of the heart and joints
- Heart failure: diuretics and ACE inhibitor
- Anti-streptococcal abx if persistent infection
Management or prophylaxis of rheumatic heart disease
Prophylaxis: benzathine penicillin, or oral penicillin
- Oral erythromycin if penicillin allergy
- 10 years after last acute episode or until 21, or lifelong if severe valvular disease
- Surgical valve repair or replacement
Define paediatric infective endocarditis
Infection of the endothelium (inner surface) of the heart. Most commonly affects the heart valves.
Risk factors of infective endocarditis
All children with congenital heart disease (except secundum ASD).
Highest risks:
- VSD, coarctation of aorta and PDA due to the turbulent jet of blood.
- Prosthetic material/valves
Causes of infective endocarditis
Most common: Staphylococcus aureus.
Clinical features of infective endocarditis
Suspect IE in any child or adult with sustained fever, malaise, raised ESR, unexplained anaemia or haematuria (microscopic)
Other features
- Changing or new heart murmur
- Splinter haemorrhages
- Clubbing (late)
- Necrotic skin lesions on palms and soles (Janeway lesions)
- Osler’s nodes
- Splenomegaly
- Neurological signs from cerebral infarction
- Retinal infarcts (Roth spots)
- Arthritis/arthralgia
DO NOT rely on peripheral stigmata
Investigations for infective endocarditis
Blood cultures before antibiotics.
30 min intervals, 3 different sites. If sepsis, do not delay empirical antibiotics
Imaging
Echocardiography- transoesophageal echocardiography (TOE), vegetations (an abnormal mass containing fibrin, platelets and the infective organism) on valves
Diagnostic criteria for infective endocarditis
Modified dukes criteria
One major & three minor criteria OR five minor criteria
Major criteria are:
- Persistently positive blood cultures (typical bacteria)
- Specific imaging findings (e.g. vegetation on echocardiogram)
Minor criteria are:
- Predisposition (e.g., IV drug use or heart valve pathology)
- Fever > 38°C
- Vascular phenomena (e.g., splenic infarction, intracranial haemorrhage and Janeway lesions)
- Immunological phenomena (e.g., Osler’s nodes, Roth spots and glomerulonephritis)
- Microbiological phenomena (e.g., positive cultures not qualifying as a major criterion)
Management of infective endocarditis
- 6 weeks of IV high-dose penicillin + aminoglycoside (e.g. gentamicin)
- Surgical removal might be needed if VSD or prosthetic valves
Prophylaxis is important for infective endocarditis, what is the recommended actions to take?
Good dental hygiene, strongly encouraged for children with congenital heart disease
Avoid tattoos and piercings
Antibiotics prophylaxis no longer recommended in the UK, but dental procedures and surgery can be associated with bacteremia
What are innocent murmurs?
Innocent murmurs or flow murmurs are common in children, they occur because of fast blood flow through the heart during systole
6S to remember the features of innocent murmurs
- Soft
- Short
- Systolic
- S1 and S2 normal
- Symptomless
- Situation dependent - quieter on standing or only present when child is ill or feverish
When would an innocent murmur prompt further investigation and referral to a paediatric cardiologist?
- Murmur louder than grade 2 out of 6
- Diastolic murmurs
- Louder on standing
- Other symptoms such as failure to thrive, feeding difficulty, cyanosis or shortness of breath
Investigations for murmurs
ECG
Chest Xray
Echocardiography
Differentials for pan-systolic murmur
- Mitral regurgitation heard at the mitral area (fifth intercostal space, mid-clavicular line)
- Tricuspid regurgitation heard at the tricuspid area (fifth intercostal space, left sternal border)
- Ventricular septal defect heard at the left lower sternal border
Differentials for ejection-systolic murmur
- Aortic stenosis heard at the aortic area (second intercostal space, right sternal border)
- Pulmonary stenosis heard at the pulmonary area (second intercostal space, left sternal border)
What is the most common arrhythmia in children?
Supraventricular tachycardia (SVT)
HR is about 200 - 300 beats/min
How does SVT present?
Heart failure in neonates or young infants
Its known as re-entry tachycardia because there is premature activation of the atrium via an accessory pathway
Cause of fetal hydrops (severe oedema) and intrauterine death
Investigations for SVT in children?
ECG - narrow complex tachycardia (250 to 300 beats/min)
Management of SVT in children
- Restoration of sinus rhythm is key
- IV adenosine – the treatment of choice. It works by breaking the re-entry circuit between the AV node and the accessory pathway
- Electrical cardioversion if adenosine fails
- Maintenance therapy e.g. flecainide, in most cases, attacks stop after 1yo
- Wolff-white syndrome - atrial pacing (pacemaker) or percutaneous radiofrequency ablation or cryoablation of the accessory pathway.
Define pyloric stenosis
A condition where there is hypertrophy and narrowing of the pyloric sphincter - smooth muscle between the stomach and duodenum. This leads to gastric outlet obstruction.
What problems do pyloric stenosis cause?
As it is increasingly difficult for food to pass from the stomach to the duodenum, the stomach compensates by increasing the peristalsis force to push food through.
Eventually becomes strong enough to eject food into the oesophagus, causing projectile vomiting - a classic symptom of pyloric stenosis to look out for in exams
When does pyloric stenosis typically present?
- 2 - 8 weeks of age
- Most common in boys and those with FHx
Clinical features of pyloric stenosis
- Typically a thin, pale, hungry baby with failure to thrive and weight loss
- Projectile vomiting
Signs on examination
- Visible peristalsis
- Firm, round mass present in upper abdomen “feels like a large olive” due to hypertrophic muscle of the pylorus.
Investigations for pyloric stenosis?
- Test feed to visualise peristalsis
- Blood gas
- Abdominal ultrasound to visualise the thickened pylorus
Common exam data interpretation question: what would the blood gases for pyloric stenosis?
- Hypochloraemic (low chloride) metabolic alkalosis as a result of vomiting stomach contents
Treatment for pyloric stenosis
IV fluids to correct fluid and electrolyte balance
Definitive treatment: laparoscopic pyloromyotomy - incision made in pylorus smooth muscle to widen canal, allowing food to pass from stomach to duodenum. Prognosis = excellent after opreation.
Define gastro-oesophgeal reflux
This is where contents from the stomach reflux through the lower oesophageal sphincter into the oesophagus, throat and mouth.
In babies, the lower oesophageal sphincter is still developing so stomach contents can easily reflux
Normal for babies to reflux and as long as there is normal growth, it is not a problem.
90% infants stop having reflux by 1 year
When does GORD in children become concerning?
If reflux is accompanied by the following features:
- Chronic cough
- Hoarse cry
- Distress after feeding
- Reluctance to feed
- Pneumonia
- Poor weight gain
Children > 1 year = similar to adults with heartburn, acid regurgitation, retrosternal or epigastric pain, bloating and nocturnal cough.
What red flags in the history indicate more serious GI problems?
- Not keeping down any feed (pyloric stenosis or intestinal obstruction)
- Projectile or forceful vomiting (pyloric stenosis or intestinal obstruction)
- Reduced consciousness, bulging fontanelle or neurological signs (meningitis or raised intracranial pressure)
- Blood in the stools (gastroenteritis or cows milk protein allergy)
- Rash, angioedema and other signs of allergy (cow milk protein allergy)
Management of gastro-oesophageal reflux in children
Simple, advice and reassurance:
- Small, frequent meals
- Burping regularly
- Not over-feeding
Keep the baby upright after feeding
If more problematic:
- Gaviscon mixed with feeds
- Thickened milk or formula (specific anti-reflux formulas)
- Proton pump inhibitors (e.g., omeprazole)
Define intussusception
- The invagination of a proximal segment of the bowel into a distal one
- Often the ileum folding into the caecum
Symptoms and signs of intussusception
- Severe, colicky abdominal pain
- Pale, lethargic and unwell child
- “Redcurrant jelly stool”
- A “sausage-shaped” mass palpated inRUQ
- Vomiting
- Intestinal obstruction presenting as absolute constipation and abdominal distention
TOM TIP: Look out for the “redcurrant jelly stool” in your exams The other classic feature is the sausage-shaped mass in the abdomen.
The typical child in the exam will have had a viral upper respiratory tract infection preceding the illness and will have features of intestinal obstruction (vomiting, absolute constipation and abdominal distention). Ultrasound is the initial investigation of choice.
Investigations for intussusception
Abdominal ultrasound is the gold standard
Classic “target” sign
Define Hirschprung’s disease
A congenital condition where nerve cells of the myenteric plexus are absent in the distal bowel and rectum.
The myenteric plexus, or Auerbach’s plexus, forms the enteric nervous system. It is the brain of the gut.
Management for intussusception
- Therapeutic enemas - contrast, water or air pumped into colon to force the folded bowel back into normal position
- Surgical reduction if above ineffective
- Gangrenous or perforated bowel = surgical resection
Common causes of vomiting in children
- Overfeeding
- Gastro-oesophageal reflux
- Pyloric stenosis (projective vomiting)
- Gastritis or gastroenteritis
- Appendicitis
Clinical features of Hirschprung’s disease
- Delay in passing meconium (more than 24 hours)
- Chronic constipation since birth
- Abdominal pain and distention
- Vomiting
- Poor weight gain and failure to thrive
Pathophysiology of HIrschprung’s
During normal fetal development, the parasympathetic ganglion cells migrate down to the distal colon and rectum from the higher GI tract.
In Hirschprung’s disease, this process does not occur, leading to an absence of parasympathetic ganglion cells in the distal colon and rectum.
What is Hirschprung-associated enterocolitis?
Inflammation and obstruction of the intestine occurring in around 20% of neonates with Hirschsprung’s disease.
Presents within 2 -4 weeks after birth
Fever, abdominal distention, diarrhoea (often with blood) and features of sepsis.
Life-threatening, it can lead to toxic megacolon and perforation of the bowel.
Mx = urgent IV abx, fluid resuscitation and decompression of the obstructed bowel.
Investigations and management for Hirschprung’s Disease
Abdominal x-rays can help diagnose intestinal obstruction and demonstrate features of HAEC.
Rectal biopsy to confirm the diagnosis. Histology demonstrates the absence of ganglionic cells.
Systemically unwell and enterocolitis = fluid resuscitation and mx of intestinal obstruction. IV antibiotics are required in HAEC.
Definitive mx = surgical removal of the aganglionic section of bowel.
Causes of abdominal pain in children
Wide range of causes, but below are common:
Organic
- Appendicitis - most common
- Constipation
- Urinary tract infection
- Coeliac disease
- IBD
Functional
- IBS
- Abdominal migraine
Additional causes in adolescent girls:
- Dysmenorrhea (period pain)
- Ectopic pregnancy
- Pelvic inflammatory disease
- Ovarian torsion
- Pregnancy
Red flags in abdominal pain that indicate a serious underlying pathology
- Persistent or bilious vomiting
- Severe chronic diarrhoea
- Fever
- Rectal bleeding
- Weight loss or faltering growth
- Dysphagia (difficulty swallowing)
- Nighttime pain
- Abdominal tenderness
Give some blood tests and what underlying pathology they might indicate
- Anaemia - IBD or coeliac’s disease
- Raised anti-TTG or anti-EMA - coeliac’s
- Raised CRP - IBD
- Raised faecal calprotectin - IBD
- Positive urine dipstick - UTI
What usually precipitates functional/non-organic/recurrent abdominal pain in children?
Stressful life events such as bullying
Management of recurrent/functional abdominal pain
Reassurance and explanation
Measures to help with the pain:
- Distraction with other activities or interests
- Advice about sleep, regular meals, balanced diet, staying hydrated, exercise and reducing stress
- Probiotic supplements for IBS
- Avoid NSAIDs such as ibuprofen
Address psychosocial triggers - Support from a school counsellor or child psychologist
Define constipation in children
The infrequent passage of dry, hardened faeces often accompanied by straining or pain and bleeding
associated with hard stools.
Very common problem in children, usually due to lifestyle factors and not more serious pathology.
What are the typical features of constipation?
The frequency of bowel opening varies hugely, breast-fed babies might only have one stool a week.
Important to establish what is normal for the child and how it has changed.
- Less than 3 stools a week
- Hard, rabbit-dropping stools that are difficult to pass
- Straining and pain
- Abdominal pain
- Rectal bleeding associated with hard stools
- Faecal impaction causing overflow soiling
- Loss of the sensation of the need to open the bowels
- Papable stools in the abdomen
Possible differentials for constipation
- Hirschsprung’s disease
- Cystic fibrosis (particularly if meconium ileus)
- Hypothyroidism
Red flags in a constipation history or exam
- Not passing meconium within 48 hours of birth (cystic fibrosis or Hirschsprung’s disease)
- Vomiting (intestinal obstruction or Hirschsprung’s disease)
- Abnormal anal anatomy/patency (inflammatory bowel disease or sexual abuse)
- Failure to thrive (coeliac disease, hypothyroidism or safeguarding)
- Acute severe abdominal pain and bloating (obstruction or intussusception)
What are some lifestyle factors that contribute to constipation?
- Habitually not opening the bowels, can cause faecal impaction
- Low fibre diet
- Poor fluid intake and dehydration
- Sedentary lifestyle
Psychosocial problems such as a difficult home or school environment (think safeguarding)
Management of idiopathic constipation
Explain diagnosis and provide reassurance - treatment can take months
- HIgh fibre, hydration
- Laxatives -macrogol is 1st line
- Faecal impaction - disimpaction with high dose laxatives and continue long-term until child develops normal, regular bowel habit
Define appendicitis
Appendicitis is inflammation of the appendix.
Caused by trapped infection and can quickly proceed to gangrene and rupture. This releases faecal and infective matter into the abdomen, causing peritonitis
Peak incidence between 10 to 20, uncommon <3 years old
Clinical features of appendicitis
Symptoms
- Key presenting feature = abdominal pain
- It starts central then localises to right iliac fossa
- Anorexia
- Nausea and vomiting
Signs
- Abdominal tenderness at McBurney’s point (1/3 distance from ASIS to umbilicus)
- Rovsing’s sign (palpation of the left iliac fossa causes pain in the RIF)
- Guarding
- Rebound tenderness suggests peritonitis
Investigations for appendicitis
- Clinical diagnosis supported by raised inflammatory markers
- CT abdomen to confirm the diagnosis
- In females, USS to rule out ovarian and gynae pathology
- If symptoms point to appendicitis but investigations are negative then diagnostic laparoscopy to visualise the appendix.
- Then appendicectomy if indicated.
Important differentials for appendicitis
- Ectopic pregnancy - consider this in females of childbearing age and do a pregnancy test
- Ovarian cysts - pelvic and iliac fossa pain, particularly with rupture or torsion.
Management for appendicitis
Appendicectomy - laparoscopic preferred to laparotomy (open)
Complications that can arise from appendicectomy
- Bleeding, infection, pain and scars
- Damage to bowel or bladder
- Venous thromboembolism (DVT or PE)
Define inflammatory bowel disease (IBD)
IBD is an umbrella term for ulcerative colitis and Crohn’s disease, they both cause inflammation of the GI tract with periods of exacerbation and remission.
Features of Crohn’s (difference between Crohn’s and UC common exam q)
Crow’s nest
- N – No blood or mucus (less common in Crohns.)
- E – Entire GI tract (mouth to anus)
- S – “Skip lesions” on endoscopy
- T – Terminal ileum most affected and Transmural (full thickness) inflammation
- S – Smoking is a risk factor (don’t set the nest on fire)
Features of UC
U = CLOSE UP
- C – Continuous inflammation
- L – Limited to colon and rectum
- O – Only superficial mucosa affected
- S – Smoking is protective
- E – Excrete blood and mucus
- U – Use aminosalicylates
- P – Primary sclerosing cholangitis
Classic presentation of Crohn’s (25%)
- Abdominal pain
- Diarrhoea
- Weight loss
However, children can present with no GI symptoms and lethargy, general ill health, weight loss and failure to thrive
Presentation of UC
- Rectal bleeding, diarrhoea and colicky pain.
Weight loss and failure to thrive sometimes, but less common than in Crohn’s
Extra-intestinal manifestations of IBD
Common exam question
- Finger clubbing
- Erythema nodosum (red lesion on shins)
- Pyoderma gangrenosum (skin ulcers)
- Episcleritis and iritis
- Inflammatory arthritis
- Primary sclerosing cholangitis (ulcerative colitis)
Investigations for IBD
Bloods - FBC (anaemia), thyroid, kidney and liver function.
Raised CRP = raised inflammation
Faecal calprotectin screening - released by the intestines when inflamed. 90% sensitive and specific for IBD in adults.
Endoscopy (OGD and colonoscopy) + biopsy is gold standard
General management of IBD
Blood tests for anaemia, infection, thyroid, kidney and liver function.
Raised CRP = active inflammation
Faecal calprotectin - released by the intestines when inflamed.
Endoscopy (OGD and colonoscopy) with biopsy is gold standard
Management of Crohn’s
NICE guidelines 2019, talk to seniors before treating
Medical:
Inducing Remission:
- 1st line: steroids (e.g. oral prednisolone or IV hydrocortisone).
Maintaining Remission:
- Tailored to patient, patients can choose not to take meds when well
- 1st line: azathioprine, mercaptopurine
Surgery
- Resection of distal ileum if only this area is affected
- Treatment of secondary strictures and fistulas
Management of UC
Inducing Remission
Mild to moderate disease
1st line: aminosalicylate (e.g. mesalazine oral or rectal)
Severe disease
1st line: IV corticosteroids (e.g. hydrocortisone)
Maintaining Remission
Aminosalicylate (e.g. mesalazine oral or rectal) or immunopressants
Surgery
- Removal of colon and rectum (panprotocolectomy)
- Permanent ileostomy (stoma) or J-pouch, the small intestine is connected to the anal canal after removal of the colon and rectum
Define coeliac disease
Autoimmune disease where autoantibodies are created when exposed to gluten.
Remember anti-tissue transglutaminase (anti-TTG) and anti-endomysial (anti-EMA) - correlates to disease activity
The antibodies target epithelial cells in the intestine, causing inflammation that particularly affects the jejunum
Cause atrophy of intestinal villi and malabsorption
RIsk factors for coeliac’s disease
Genetic associations
- HLA-DQ2 gene (90%)
- Type 1 diabetes
Clinical features of coeliac disease
Often asymptomatic, so low threshold for testing
- Failure to thrive in young children
- Abdominal pain
- Diarrhoea
- Steatorrhoea (fatty, pale, hard to flush stools)
- Fatigue
- Weight loss
- Mouth ulcers
- Anaemia secondary to iron, B12 or folate deficiency
- Dermatitis herpetiformis abdominal itchy, blistering rash)
Rarer neurological symptoms
- Peripheral neuropathy
- Cerebellar ataxia
- Epilepsy
Test all patients with a new diagnosis of T1DM for coeliac
Investigations for coeliac disease
- Patients remain on gluten-containing diet
- Check total immunoglobulin A levels to exclude IgA deficiency as coeliac disease-specific antibodies are IgA (false negative)
- 1st line: raised anti-TTG antibodies
- 2nd line: raised anti-endomysial antibodies
Endoscopy and intestinal biopsy - crypt hypertrophy & villous atrophy
Management for coeliac disease
All products containing wheat, rye and barley are removed from the diet and this leads to the resolution of the symptoms. Supervised by dietician.
Monitor coeliac antibodies
What complications can arise from gluten damage in coeliac?
- Vitamin deficiency
- Anaemia
- Osteoporosis
- Ulcerative jejunitis
- Non-Hodgkin lymphoma (NHL)
Define food allergy
Pathological immune response mounted against a specific food protein.
IgE mediated or non-IgE mediated.
Most common causes:
- Infants - cow’s milk, egg and peanuts
- Older children – peanut, tree nut, fish and shellfish
Define food intolerance
A non-immunological hypersensitivity reaction to a
specific food. Usually occurs few hours after ingestion and involves the GI tract.
What are the risk factors for cow’s milk protein allergy?
- Formula-fed baby
- Family history of atopy
Clinical features of Ig-E mediated food allergy
- Usually occurs after 10 - 15 mins (up to 2hrs) after ingestion
Mild reaction
- Urticaria and itchy skin
- Facial swelling
Severe reaction
- Breathing difficulties
- Wheeze
- Stridor
- Abdominal pain, vomiting,
diarrhoea - Shock, collapse
Clinical features of non-IgE mediated food allergy
- Diarrohea
- Vomiting
- Abdominal pain
- Sometimes failure to thrive
Investigations for Ig-E mediated food allergy
- Clinical history is key - timing after exposure to allergen, previous and subsquent exposure and reaction to allergen, symprtoms, personal or family Hx of atopy or allergy
- Skin prick test - a drop of food is added to skin and site is marked, weals of ≥ 4mm are positive
- Measure blood IgE
- Food challenge test (gold stardard)
Management for Ig-E mediated food allergy
- Avoidance of relevant food(s)
- Food labelling in the EU mandates listing common allergens
- Child and family learning to manage allergic attack with written self-management plans and training.
- Mild (no cardiorespiratory symptoms): non-sedating antihistamines
- Severe - IM adrenaline by autoinjector (e.g. Epipen)
- Cow’s milk and egg allergy usually resolves in early childhood, but nuts and seafood usually persists through to adulthood.
Management of cow’s milk protein allergy in infants
- Breast-feeding - mothers should avoid dairy
- Special hydrolysed formulas designed for cow’s milk allergy. The milk protein is broken down so they don’t trigger an immune response
- Severe - elemental formulas of
basic amino acids (e.g. neocate). - Slowly introduce milk products, they might eventually be able to tolerate it. Should outgrow by 3.
- Same management for cow’s milk intolerance
-
Define anaphylaxis
- Life-threatening medical emergency
- Severe type 1 hypersensitivity reaction, where IgE stimulates mast cells to rapidly release histamine and other pro-inflammatory chemicals - mast cell degranulation.
- Rapid airway, breathing and/or circulation compromise.
Clinical features of anaphylaxis
- Often accompanied by history of exposure to allergen
- Urticaria
- Itching
- Angio-oedema, with swelling around lips and eyes
- Abdominal pain
Additional symptoms
- Shortness of breath
- Wheeze
- Swelling of the larynx, causing stridor
- Tachycardia
- Collapse
Management of anaphylaxis
Medical emergency - managed by an experienced paediatrician
ABCDE
A – Airway: Secure the airway
B – Breathing: O2 (15L 100%) - salbutamol for wheezing.
C – Circulation: IV bolus of fluids
D – Disability: Lie the patient flat to improve cerebral perfusion
E – Exposure: Look for flushing, urticaria and angioedema
- Intramuscular adrenaline, repeated after 5 minutes if required (150mcg for < 6, 300mcg for 6 to 12, 500mcg > 12
- Antihistamines, e.g. oral chlorphenamine or cetirizine
- Steroids, usually intravenous hydrocortisone
How do you manage a paediatric patient after an episode of anaphylaxis?
- Observation on paediatric unit as biphasic reactions are possible
- Measure serum mast cell tryptase within 6 hours. It is released during mast cell degranulation and remains in blood for 6 hours after (common exam q!)
- Education and follow-up of family and child, ensure family is trained in basic life support
When would you consider providing adrenaline auto-injectors (e.g. epipen)?
- All children and adolescents with anaphylactic reactions
- Generalised allergic reactions (without anaphylaxis) with risk factors:
- Asthma requiring inhaled steroids
- Poor access to medical treatment (e.g. rural)
Define gastroenteritis
Common condition in children
Combination of acute gastritis - inflammation of the stomach and enteritis - inflammation of intestines.
Common causes of viral gastroenteritis
- Rotavirus
- Norovirus
Which bacteria grows on food not refrigerated after cooking - typically fried rice left at room temperature?
Bacillus cereus - gram-positive rod, produces a toxin called cereulide when growing on food
Course:
- Abdominal pain + vomiting 5 hours of ingestion
- Watery diarrhoea 8 hours after ingestion
- Resolution within 24hrs
Favourite one in exams because of its unique course
Other causes of bacterial gastroenteritis
- E.coli - infected faeces, unwashed salads or contaminated water.
- Campylobacter jejuni - traveller’s diaherra:
- Under cooked poultry
- Untreated water
Symptoms of infection by Camplyobacter jejuni
Incubation 2 to 5 days. Resolve after 3 to 6 days. Symptoms are:
- Abdominal cramps
- Diarrhoea often with blood
- Vomiting
- Fever
Abx if severe or risk factors e.g. HIV
General management of gastroenteritis
- Good hygiene
- Isolation - barrier nursing and infection control
- School absence until 48 hours after resolution
- Microscopy, culture and sensentivies to idenify causative organism
- Ensure hydration - oral or IV
- Antidiarrhoeal medication such as loperamide and antiemetics not recommended
DIfferentials for diarrhoea in children
- Infection (gastroenteritis)
- Inflammatory bowel disease
- Lactose intolerance
- Coeliac disease
- Cystic fibrosis
- Toddler’s diarrhoea
- Irritable bowel syndrome
- Medications (e.g. antibiotics)
What is toddler’s diarrhoea?
A chronic non-specific diarrhoea seen in small children between 1 - 4.
Common cause of chronic diarrhoea but should be a diagnosis of exclusion
Clinical features of toddler’s diarrhoea
- Frequent, poorly formed brown and smelly stools
- Hallmark feature = food material in stools
Important to note that the child is constitutionally well, normally active and has unimpaired growth.
- Normal apetite and fluid intake
- Examination and labs negative
Investigations for toddler’s diarrhoea
Hisotry might reveal very high intake of fruit juices - hyperosmolar and contain sorbitol, a non-absorbable sugar alcohol - for example, pear juice, 2%; apple juice, 0.5%.
Management of toddler’s diarrhoea
- Parental reassurance
- Avoid full-strength fruit juices
- Reduce intake of peas, corn and carrots which are not chewed properly and appear in stools
- Faeces should become firm by age 3 years or when the child is toilet trained.
What is a diaphragmatic hernia?
Protution of abdominal content through an opening in the diaphragm - usually left-sided through the posteriolateral foreman of the diaphragm
Clinical features of diaphragmatic hernia
- Usually picked up on the antenatal scan
- If not, presents with respirstory distress
- Apex beat and heart dound displaced to right chest with poor air entry on left chest
Investigations for diaphragmatic hernia
XR of chest + abdomen
Management of diaphragmatic hernia
- Resusitation might cause pneumothrox of normal lung
- If diagnosis suspected, then a large nasogastric tube used to apply suction to prevent distension
of the intrathoracic bowel.
Then surgrica; repair
However, the worry with most infants is pulmonary hyplasia - whee the lung is underdeveloped due to compressinon from hernia, mortality is high.
Define type 1 diabetes
Insulin is a hormone that regulates blood sugar levels and it is produced by the pancreas, specfically the beta cells in the islets of Langerhans.
Type 1 diabetes occurs when the beta cells are unable to produce insulin, due to destruction through an autoimmune process.
Insulin stimulates cells to take up glucose so they can use it as fuel, however if insulin is absent and cells cannot use glucose, the body will believe that it is starving and the glucose levels will keep rising.
How does insulin reduce blood sugar?
- Stimulate cells to absorb glucose from blood and use it as fuel
- Stimulates muscle and liver cells to glucose from blood and store it as glycogen
Clinical features of type 1 diabetes
Classic triad:
- Polyuria
- Polydipsia
- Weight loss
Less common:
- Secondary enuresis (bedwetting in previously dry child)
- Recurrent infections
Symptoms starts 1 - 6 weeks before diabetic ketoacidosis
Investigations for type 1 diabetes
- Raised random blood glucose (>11.1 mmol/L), glycosuria, and ketosis.
- If in doubt, fasting blood glucose > 7mmol/L) or raised HbA1c (> 48mmol/mol)
- FBC, renal profile (U +Es)
- TFT and thyroid peroxide antibodies for associated autoimmune thyroid disease
- Tissue transglutaminase (anti-TTG) antibodies for associated coeliac’s)
Management of type 1 diabetes in children
- Patient and family education
- Patients need to become “expert patients” as they become independent from their family
Management:
- Long-acting (basal) and short-acting (bolus) insulin i.e. basal bolus regime
Basal in the evening - provides constant insulin e.g. Lantus
Bolus - before meal times, calculated according to the number of carbohydrates consumed, e.g. Actrapid
- Insulin pumps - continuous infusion of insulin at different rates to control blood sugar levels
Symptoms of hypoglycemia
- Hunger
- Tremor
- Sweating
- Irritability
- Dizziness
- Pallor
- Severe: reduced consciousness, coma and death
Treatment for hypoglycemia
- Rapid acting glucose - lucozade
- SLower acting carbohydrates - biscuits or toast
- Severe - IV dextrose and IM glucagon
Long-term complications of diabetes
Chronic hyperglycemia = damage to vascular endothelial cells, immunosuppression and optimal environment for infectious organisms
MAcrovascular complications
- Coronary artery disease - major cause of death
- Peripheral ischaemia = poor healing, ulcers and diabetic foot
- Stroke
- HTN
Microvascular complications
- Peripheral neuropathy
- Retinopathy
- Renal disease particularly glomerulosclerosis (scarring of glomerulus)
Monitoring in type 1 diabetes
- HbA1c - glycated haemoglobin - every 3 - 6 months
- Capillary blood glucose - immediate result via glucose meter
- Flash glucose monitoring (e.g. FreeStyle Libre) - measures glucose level in interstitial fluid, 5 minute lag behind blood glucose
Define diabetic ketoacidosis
DKA occurs in type 1 diabetes when the person is producing enough insulin and not injecting enough insulin.
The body cannot use and process glucose, therefore the cells are starvinig and undergo ketogenesis to produce an alternate fuel.
Eventually ketone and glucose levels keep increasing
Initially the kidneys compensate by producing bicarbonate to buffer the ketone acids. Over time, the ketone acid use up the bicarbonate and the blood becomes acidic - this is ketoacidosis
What other problems occur in diabetic ketoacidosis?
- Dehydration due to hyperglycemia, the high levels of glucose in the body filters out through the kidney which draws water with it through osmotic diuresis - causes polyuria and polydipsia
- Potassium imbalance - insulin drives potassium into cells. Blood K is normal or high in DKA but total body K is low as not stored in cells
Clinical features of DKA
Symptoms of the underlying hyperglycaemia, dehydration and acidosis:
- Polyuria
- Polydipsia
- Nausea and vomiting
- Weight loss
- Dehydration and subsequent hypotension
- Altered consciousness
- Symptoms of an underlying trigger (i.e. sepsis)
Diagnosing DKA
- Check hospital criteria
- Hyperglycaemia (i.e. blood glucose > 11 mmol/l)
- Ketosis (i.e. blood ketones > 3 mmol/l)
- Acidosis (i.e. pH < 7.3)
Management of DKA
- Dehydration, potassium imbalance and acidosis kills the paitent!
- Priority is fluid resus to correct the above
- BUT rapid IV fluids = cerebral oedema! SO correct dehydration evenly over 48 hours
- GIve fixed rate insulin infusion - allows cells to glucose and prevents ketone production
- IV dextrose once BM < 14mmol/L
- Add potassium to IV fluids and monitor levels
- Treat underlying cause
Define sepsis
A syndrome that occurs when an infection causes a child to become systemically unwell. It results from severe systemic inflammatory response - life-threatening!
Low-threshold for treating suspected sepsis!
Pathophysiology of sepsis
- Pathogens enter bloodstream
- Recognition by WBCs that release cytokines e.g. interleukins, TNF
- Vasodilation, leaky capillary and blood clotting
- Organs are not adequately perfused as blood is drawn into the extracellular space and used in clots, consumption of platelets and clotting factors also lead to disseminated intravascular coagulopathy
- Blood lactate rises as hypo-perfused organs undergo anaerobic respiration which produces lactate
- Septic shock - when sepsis leads to cardiovascular dysfunction, fall in systolic BP
Treatment of septic shock
- Aggressive IV fluids to improve BP, reduce lactate and tissue perfusion
- If not effective, step up to high dependency or ICU
Signs of sepsis
- Deranged physical observations
- Prolonged capillary refill time (CRT)
- Fever or hypothermia
- Deranged behaviour
- Poor feeding
- Inconsolable or high pitched crying
- High pitched or weak cry
- Reduced consciousness
- Reduced body tone (floppy)
- Skin colour changes (cyanosis, mottled pale or ashen)
When are babies urgently treated for sepsis?
If under 3 months with temperature 38C or above
RIsk assessment for sepsis
NICE guidelines: https://cks.nice.org.uk/topics/sepsis/diagnosis/risk-stratification/
Traffic system: green (low), amber, red (high)
Patients categorised based on examination in various systems
- Colour - normal vs cyanosis, pale, ashen
- Activity - active happy responsive vs abnormal, drowsy or abnormal cry
- Respiratory - normal vs respiratory distress, tachypnoea or grunting
- Circulation and hydration - normal skin and moist membranes vs tachy, dry membranes
Immediate management of sepsis
Emergency! Call for senior help early for experienced support!
1) GIve high-flow oxygen (15L 100% as standard)
2) Obtain IV/IO access and take bloods (FBC, U+E, CRP, clotting, blood gas for lactate and acidosis, cultures)
3) GIve abx within 1 hr of presentation
4) IVCfluids - 20ml/kg IV bolus saline if shock or lactate above 2mmol/L
Futher management of sepsis
- CXR - if pneumonia suspected
- LP if meningitis suspected
- Meningococcal PCR if meningococcal disease suspected
- Once bacterial cause idenitified, culture and sensitivities can guide abx use, seek microbiologist advice
- Continue abx for 5 - 7 days after
Define meningitis
Inflammation of the meninges, the membrane lining the brain and spinal cord
Most common causes of bacterial meningitis in children
Neonates: group B streptococcus (GBS)
Older children:
- Neisseria meningitidis (meningococcus)
- Streptococcus pneumoniae (pneumococcus)
What is meningococcal septicaemia?
Meningococcal infection in the blood - causing “non-blanching rash”
Clinical features of meningitis in children
- Fever
- Neck stiffness
- Photophobia
- Meningococcal septicaemia - non-blanching rash
Non-specific features:
- Bulging fontanelle
- Hypotonia
- Poor feeding
- Drowsiness
- Hypothermia
Special tests for meningitis
- Kernig’s test - lie flat on back, flex hip and knee at 90, straighten one knee at a time, pain/resistance = positive
- Brudzinski’s test - lie flat on back, lift patient’s neck and head off bed flexing chin to chest, if hips and knees flex = positive
