Paediatrics: NOTES Flashcards
What is the most common cause of bacterial pneumonia in children?
S.pneumonia
What bacteria causes atypical chest x-ray findings in paediatric pneumonia?
S.aureus
What is the definition of pneumonia?
An infection of the lower respiratory tract and lung parenchyma that leads to consolidation
What is the most common causative pathogen of pneumonia in newborns?
Group B Streptococcus (organisms from the mother’s genital tract).
Others: E.coli, Klebsiella, S.aureus
What is the difference in most common cause of pneumonia in young children vs older children?
Young Children: viruses
Older children: bacteria
What is the most common viral cause of pneumonia?
RSV
What is the typical clinical features of a child with pneumonia?
Fever, cough (typically wet and productive), rapid breathing. Also; lethargy, poor feeding
What are the characteristic chest signs of pneumonia on examination?
Bronchial breath sounds, focal coarse crackles, dullness to percussion (due to consolidation), tactile vocal fremitus
What resp rate indicates severe illness in children+infants? (different for each)
Infants: >70/min
Children: >50/min
What are bronchial breath sounds?
Harsh breath sounds that are equally loud on inspiration and expiration
What are the signs of respiratory distress?
Tachypnoea, grunting, intercostal recession, use of accessory muscles for breathing
What are the indications for a child being sent to hospital for pneumonia?
Oxygen less than 92%, recurrent apnoea, grunting, inability to maintain adequate feed/fluid
What investigations should be done for pneumonia?
Sputum sample, CXR (confirm dx but can’t differentiate between viral and bacteria), nasopharyngeal aspirate (identify viral in infants), blood culture, pleural fluid (if significant pleural effusion, sample should be taken when drained)
What is the antibiotic therapy for children under 5 with bacterial pneumonia?
Amoxicillin (S.pneumoniae; most common cause)
What is the antibiotic therapy for children over 5 with bacterial pneumonia?
Amoxicillin (mycoplasma.pneumoniae is most common in this age group)
What antibiotic course should be used in severe pneumonia?
Co-amoxiclav, cefotaxime, or IV cefurozime
What % saturation indicates need for oxygen use?
92%
What are the indications for requiring aspiration of a effusion (as a complication of pneumonia)
Large effusion, no clear underlying diagnosis, respiratory distress, persistent fever despite abx, history longer than 14 days
What is an empyema
A collection of pus in a cavity in the body, especially pleural
What is croup?
Viral laryngotracheobronchitis. It is mucosal inflammation affecting anywhere from the nose to the lower airway
What is the most common cause of croup? What are other possible causes?
Parainfluenza virsues. Other causes can be rhinovirus, RSV, influenca
What age group does croup affect?
6 months to 6 years, with peak incidence in the 2nd year of life in autumn
What was a previous common cause of croup (we now vaccinate against this)
Diptheria, which led to epiglottitis
What is the class presentation of croup?
coryza and low grade fever, followed by hoarseness (inflammation of the vocal chords), barking cough attacks (due to tracheal oedema and collapse), harsh stridor, difficulty breathing, worse at night
What is stridor?
Noisy breathing that occurs due to obstructed air flow through a narrowed airway
What should + not be examined in croup?
Do not examine the throat (due to risk of closure). Assess degree of stridor and subcostal recession, RR, HR, LOC, pulse oximetry
What is the 1st line treatment for croup?
Oral dexamethasone (0.15mg/kg). Croup responds well to steroids (can also use oral prednisolone or nebulized steroids)
what should be the management for severe upper airways obstruction?
Nebulised adrenaline with oxygen by facemask
What is the typical aetiology of epiglottitis?
Haemophilus influenza type B
What is the pathophysiology of croup?
URTI causing oedema in the larynx
What is the typical presentation of epiglottitis?
unvaccinated child presenting with a fever, sore throat, difficulty swallowing, sitting forward (tripod position) and drooling. Scared and unwell. Muffled voice (can be called hot potato voice). Minimal cough
What is a major differential dx for croup?
Epiglottitis
What is epiglottitis?
Intense swelling of the epiglottitis and surrounding tissues, associated with septicaemia. High risk of obstruction
How is Epiglottitis Diagnosed?
Direct visualisation by airway trained staff, or xray. DO NOT EXAMINE THROAT DUE TO OBSTRUCTION RISK, DO NOT DISTRESS PATIENT
What is the xray sign of epiglottitis?
Lateral: thumb sign (swelling of the epiglottis)
Anterior-posterior: steeple sign (subglottic narrowing)
What is the management of epiglottitis?
Urgent airway management (intubation/tracheostomy). Blood culture. ABx
What is the first line abx tx for epiglottitis?
IV 2nd/3rd generation cephalosporin (cefuroxime, ceftriaxone, cefotaxime)
What prophylactic abx is offered to household contacts in epiglottitis?
Rifampicin
What is a potentially life threatning complication of epiglottitis?
Epiglottic abscess
What is asthma
Chronic inflammatory airway disease leading to variable airway obstruction
What are common triggers for asthma
FHx, dust, animals, cold air, exercise, smoke, food allergens
What other conditions may someone with asthma have?
atopy; eczema, hayfever, food allergies
What is the typical presentation of asthma?
Diurnal variability, dry cough, progressively worsening SOB, signs of respiratory distress, tachypnoea, expiratory wheeze, improvements of symptoms with bronchodilators
What wheezing is heard on ausculation of a child’s chest with asthma?
Bilateral widespread polyphonic wheeze (believed to represent many airways of different sizes vibrating from abnormal narrowing)
What is a ominous sign of asthma on auscultation?
Silent chest; the airways are so tight it isn’t possible for a child to move air through the airways to create a wheeze
What is a unilateral wheeze suggestive of?
Focal lesion, inhaled foreign body, infection
What peak flow percentages are seen for moderate, severe, and life threatening asthma?
Moderate: >50%
Severe: <50%
Life-threatening: <33%
What are the signs of severe asthma?
<50% peak flow, <92% oxygen saturations, unable to complete sentences in one breath, signs of respiratory distress, tachypnoea, tachycardia
What are the signs of life threatening asthma?
<33% peak flow, <92% O2 sats, exhaustion and poor respiratory effort, hypotension, silent chest, cyanosis, altered consciousness/confusion
At what age is spirometry with reversibility testing generally done?
Over 5 years (requires a degree of cooperation from the child)
What might a CXR show for asthma?
Hyperinflation, flattened hemi-diaphragms, peribronchial cuffing, atelectasis (partial or incomplete inflation of lung)
What s/e can salbutamol cause, and how should this be managed?
Hypokalaemia; manage serum K+. Can cause tachycardia and a tremor
What are the 3 patterns of wheezing for children?
Vial episodic wheezing (only in response to viral infections), multiple trigger wheeze (in response to multiple triggers, can develop into asthma over time), asthma
What is a viral episodic wheeze?
Thought to result from small airways being more likely to narrow and obstruct due to inflammation and immune responses to viral infection. Episodic, as often triggered by common cold viruses
What is the pathophysiology of asthma?
Bronchial inflammation (oedema, execessive mucus production, infiltration with cells), bronchial hyperresponsiveness (exaggerated twitchiness to inhaled stimuli), airway narrowing (reversible airflow obstruction)
What is an example of a long acting beta2-agonist?
Salmeterol, formoterol
What should LABAs not be used without and why?
Inhaled corticosteroid (preventers; decrease airway inflammation, result in decreased symptoms)
What are examples of inhaled corticosteroids
Budesonide, beclametasone, fluticasone
What systemic side effects may be seen from use of high dose steroids in asthma?
Imapired growth, adrenal suppression, altered bone metabolism. Ensure to always monitor the child’s growth
What is ipratropium bromide, and when might it be used in the tx of asthma?
An anticholinergic dilator. Can be given to young infants when other bronchodilators ineffective, or for the tx of severe acute asthma
What is an example of a leukotriene receptor antagonist (LTRA)?
Montelukast
What is the pathway for treating an ACUTE flare up of asthma?
- Salbutamol inhalers via spacer device
- Nebulisers with salbutamol/ipratroium bromide
- Oral prednisolone
- IV hydrocortisone
- IV magnesium sulfate
- IV salbutamol
- IV aminophylline
What is the first treatment for mild intermittent asthma?
SABA: salbutamol
What is the third step of treatment of mild intermittent asthma (after SABA and ICS)
- less than 5 years: add LTRA (montelukast)
- if more than 5 years, add a LABA. If poor response, can either increase ICS. If very poor response, stop LABA, add LTRA
What is the next step of medication of asthma after addition of LTRA and increased dose of ICS?
Theophylline
When should oral steroids be given for asthma?
After all other avenues explored, such as high dose inhaled corticosteroids, LTRA, theophylline
What is the criteria for the admission of a child to hospital for asthm?
if after high dose inhaled bronchodilator therapy;
- havent response: eg, still breathless or have tachypnoea
- exhausted
- still reducing peak flow
- <92% O2 sat
What is the difference in chest recession in moderate, severe and life threatening asthma?
Moderate: some intercostal recession
Severe: accessory neck muscles
Life threatening: poor respiratory effor
What are the common causes of viral induced wheeze?
RSV or rhinovirus
What physic’s law explains why viral induced wheeze has more of an impact on young children?
Poiseuille’s law; small diameter of the airwar, proportionally larger restriction in airflow
How can you differentiate between viral induced wheeze and asthma?
- asthma is a clinical diagnosis, and rarely made before the age of 5. Viral induced wheeze is a symptom rather than a diagnosis
- VIW is preceded by a coryzal illness, and has no atopic history
What is the difference in the pathophysiology of bronchiolitis and viral induced wheeze?
The symptoms of viral induzed wheeze are due to bronchospasm, whereas in bronchiolitis there is diameter narrowing but also secretions (leading to wet lungs)
What is the main cause of bronchiolitis?
RSV
What is the pathophysiology of bronchiolitis?
Long and short: inflammation and infection in the bronchioles.
RSV invades the nasopharyngeal epithelium and spreads to the lower airways where it causes increased mucous production, desquamation, and then bronchiolar obstruction. The net effect is pulmonary hyperinflation and atelectasis
Why does bronchiolitis affects children and not adults?
In adults, when there is swelling and mucus in the airways, there is little affect on breathing due to size of the lumens. In infants, airways are small, so there is reduced air movement to and from the alveoli; airflow obstruction
what are the RF for a child developing bronchiolitis?
Prematurity, congenital heart disease, immunodeficiency, other chronic lung conditions (eg, CF)
What is the typical presentation of bronchiolitis?
Coryzal symptoms, dry wheezy cough, increasing breathlessness, fever
What is heard on auscultation of a baby with bronchiolitis?
Fine end-respiratory crackles, high pitched wheeze
What population is affected by bronchiolitis
Children under 2, generally under 1. In the winter/spring
What preventative measures can be given to preemies at risk of bronchiolitis
Monthly IM injection of palivizumab (monoclonal antibody antibody). This reduces risk of hospitalisation and need for mechanical ventilation
What investigations should be taken for bronchiolitis?
- nasopharyngeal swab: immunoflourescent antibody testing for RSV binding
- pulse oximetry
- CXR and blood gases if respiratory failure is suspected
When is hospital admission indicated for bronchiolitis?
- Sleep apnoea
- persistent oxygen sats <90%
- inadequate oral fluid intake (below 50% of normal)
- severe respiratory distress: grunting, marked chest recession, RR >70/min
What is the management of bronchiolitis: what is and isnt indicted?
- supportive management with O2 (via nasal cannula)
- nasal suction
- fluids by NG tube or IV
- no evidence for use of nebulised bronchodilators, abx, or steroids
- may need ventilation if distress: CPAP to maintain airways, and intubation and ventilation via endotracheal tube if indicated
What is type 2 respiratory failure?
Increase in CO2 and decrease in O2
What is bronchiolitis obliterans
Constrictive bronchiolitis; rare condition associated with permanent obstruction of the bronchioles due to chronic inflammation, leads to scar tissue formation
What is the common cause of bronchiolitis obliterans?
Adenovirus
What is the inheritance of cystic fibrosis?
autosomal recessive
What mutation occurs in cystic fibrosis, and on what chromosome?
Chromosome 7, mutation to CFTR gene (CF transmembrane conductance regulator). Leads to defective ion transport in exocrine glands.
What is the carrier rate of cystic fibrosis?
1 in 25
How is cystic fibrosis diagnosed in newborns?
Bloodspot screening (Guthrie card). Measures immunoreactive trypsinogen.
What causative organism causes chronic infections in children with CF?
pseudomonas aeruginosa
What are the multisystem impact of cystic fibrosis?
- Airways: reduction in airway surface liquid, impaired ciliary function, retention of mucopurulent secretions
- dysregulation of inflammation and defence against infection
- pancreatic duct: blocked by thick secretions, leads to pancreatic enzyme deficieny and malabsorption
- infertility
What is a common first sign of CF in newborn babies?
Meconium ileus (the meconium is thick and sticky, therefore gets stuck and obstructs the bowel). Presents as not passing meconium within 24 hours, abdominal distension and vomitingW
What are later symptoms of cystic fibrosis?
- chronic cough
- thick sputum production
- recurrent respiratory tract infections (pneumonia, bronchiectasis)
- steatorrhoea (due to lack of fat digesting lipase enzymes)
- abdominal pain and bloating
- failure to thrive
- older children: diabetes, delayed onset puberty
What are possible signs of cystic fibrosis on examination?
- nasal polyps
- finger clubbing due to chronic hypoxia
- crackles and wheezes on auscultation
- hyperinflation of the chest
What conditions can cause finger clubbing?
cyanotic heart disease, infective endocarditis, TB, IBD, liver cirrhosis, CF (conditions that cause chronic hypoxia, or have malabsorption)
What can the impacts of cystic fibrosis be on the pancreas?
Thick pancreatic and biliary secretions block the ducts. Leads to pancreatic exocrine insufficiency (lipase, amylase, protease). Results in maldigestion and malabsorption
What is the gold standard dx for CF?
Sweat test
What is the diagnostic concentration of chloride ions for the sweat test for CF?
60 mmol/L
Why is pseudomonas aeruginosa risky for children with CF?
Very hard to treat and worsens prognosis. Can be passed between CF patients
What is the treatment for pseudomonas aeruginosa
Tobramycin
What is a very common coloniser of the lungs in CF patients? and tx?
S.aureus. Treatment is continuous prophylactic oral abx (fluclox)
What is seen on a CXR for children with CF?
hyperinflation, increased antero-posterior diameter, bronchial dilation, cysts, linear shadows, infiltrates
What is the only therapeutic option for end stage CF lung disease?
Bilateral sequential lung transplantation
What investigations should be done in a CF exacerbation?
Pulmonary function test (10-15% decrease), sputum cultures, CXR
What treatment can help digestion in patients with CF?
CREON tablets to help digest fats in patients with pancreatic insufficiency (replaces lipase enzymes)
What treatment is given to CF patients to help make secretions easier to clear?
Nebulised DNase. This is an enzyme that can break down the DNA material in respiratory secretions, making them less viscous and easier to clear
What is whooping cause caused by?
Bordetella pertussis (gram negative bacteria)
What is the disease progression of whooping cough?
- Mild coryzal symptoms, fever, cough (1 week)
- Severe paroxysmal cough, followed by inspiratory whoop and vomiting
What causes the characteristic cough in whooping cough?
Coughing fits so severe that the child is unable to take in any air between coughs and subsequently makes a loud whooping sounds as they forcefully suck in air after the coughing finishes (paroxysmal cough). Can cough so hard, followed by fainting, vomiting, nosebleed, or even developing a pneumothorax. During coughing, mucus normally flows from nose and mouth.
Known as 100 day cough, as can persistent for a long time!
When is vaccination of whooping cough done?
- offered to pregnant women
- children; 2, 3, and 4 months. Then booster ~3 years
What is the dx of whooping cough?
nasopharyngeal nasal swab for culturing organism
What prophylactic treatment is given to close contact for whooping cough?
Macrolide prophylaxis
What is the 1st line treatment for chidlren with whooping cough?
Azithromycin. This will reduce contagiousness (infectivity period), but doesn’t alter clinical course.
Other than this, supportive management
How long should children with whooping cough avoid school?
Until cough for 21 days, or antibiotics for 5 days. Not contagious after this
What is transient tachypnoea of the newborn?
Parenchymal lung disorder characterised by pulmonary oedema resulting from delayed resorption and clearance of foetal alveolar fluid
What is the commonest risk factor for transient tachypnoea of the newborn?
C-section
What are common differentials for acute SOB in neonates?
TTN, respiratory distress syndrome, meconium aspiration, pneumothorax
What causes respiratory distress syndrome?
Lack of surfactant
What age group does respiratory distress syndrome affect?
Premature, <32 weeks
What is the commonest cause of respiratory distress in newborns?
TTN
What is the management and course of TTN?
Treatment is O2. It should resolve in a few days with resorption of lung fluid
What are signs of moderate respiratory distress?
Tachypnoea
Tachycardia
Nasal Flaring
Use of accessory respiratory muscles
Intercostal and subcostal recession
Head retraction
Inability to feed
What are the signs of severe respiratory distress
Cyanosis
Tiring because of increased work of breathing
Reduced consciousness level
Oxygen saturation <92% despite O2
What are risk factors for respiratory distress
- E-preemies with bronchopulmonary dysplasia
- Haemo-dynamically significant congenital heart disease
- disorders causing muscle weakness
- CF
- immuno deficiency
What is stridor?
Predominantly inspiratory. From extra thoracic airway obstruction in the trachea and larynx
What is wheeze?
Predominantly expiratory from intrathoracic airway narrowing
What are the symptoms of foreign body aspiration?
- sudden onset dyspnoea
- decreased breath sounds
- inspiratory stridor
- expiratory wheezing (focal)
What is the most common cause of stridor?
Laryngeal and tracheal infection, eg, croup
What is laryngomalacia?
Immature cartilage of the upper larynx collapses during inhalation
How does laryngomalacia present?
stridor; noisy breathing in an otherwise well child
How can the severity of obstruction be assessed?
Degree of stridor and chest retraction
What symptoms suggest complete obstruction of the upper airway?
Central cyanosis, drooling or reduced level of consciousness
What weeks is surfactant produced, and what cells produce it?
From 24-28 weeks. Type II pneumocytes
How does Respiratory Distress Syndrome appear on CXR?
Diffuse granular/’ground glass appearance’
How can respiratory distress syndrome be prevented?
Dexamethasone given to mothers at risk of premature delivery
What are the differences of consolidation on CXR for viral vs bacterial pneumonia?
- viral: bilateral consolidation
- bacterial: lobar consolidation
What % improvement is required following spirometry reversibility texting for a asthma diagnosis?
10% improvement
Why is magnesium sometimes used in asthma treatment??
Causes smooth muscle relaxation
What is the most common cause of bacterial tonsilitis?
Group A strep
What is the commonest cause of viral tonsilitis?
Rhinovirus, Corona Virus, Parainfluenza
What is the Centor criteria for tonsilitis?
Determines probability of bacterial infection, and will benefit from ABx
What is the fever pain score?
Calculates the likelihood of strep throat and the need for antibiotic prescription
Why does lack of surfactant production lead to RDS?
surfactant decreases the surface tension on the small airways and alveoli, which prevents the collapse of alveoli. Leads to increased surface tension, so increased pressure is required to maintain the alveolar shape. Atelectasis occurs throughout the lung, which reduces gas exchange. Repeated atelectasis results in an inflammatory response as the respiratory epithelium is damaged. Pulmonary oedema can develop.
What is the tx for laryngomalacia?
Usually resolves over time as the larynx matures and grows and is able to support itself
What anatomical changes lead to laryngomalacia?
the aryepiglottic folds are shortened, which pulls on the epiglottis and changes it shape to a characteristic “omega” shape. During inspiration, the soft tissue of the supraglottic larynx is soft and pulls across the airway and partially obscures it.
Embryologically, what do the head and neck structures develop from?
Pharyngeal (branchial) arches, pouches, and clefts
What makes up the external ear?
The auricle/pinna, and external acoustic meatus (ear canal)
What makes up the middle ear?
Tympanic cavity (air filled section in the temporal bone), lined with a mucous membrane. Auditory ossicles + eustachian tube
What makes up the inner ear?
Formed of the bony and membranous
labryinth, Vestibulocochlear organs: bony labryinth, membranous labryinth, utricle and saccule, semicircular ducts, cochlear duct
What is otitis media?
Infection of the middle ear
What is the common bacterial entry method of otitis media?
Bacteria enters from the back of the throat via the eustachian tube
What are the common causative organism of otitis media?
Viruses, streptococcus pneumoniae, h. influenzae, s.aureus
What are risk factors for otitis media?
Younger age, male sex, smoking in the household, formula feeding, craniofacial abnormalities (downs, cleft palate)
Why is otitis media less common in older children?
As children grow bigger, the angle between the Eustachian tube and the wall of the pharynx becomes more acute, so that coughing or sneezing tends to push it shut. In small children, the less acute angle facilitates infected material being transmitted through the tube to the middle ear
What is the presentation of otitis media, and what typically precedes it?
Typically preceded by a viral upper respiratory tract infection. Ear pain (otalgia) , reduced hearing the in the affected ear, fever, irritability, coryzal symptoms. If vestibular system affected; balance + vertigo
If there is discharge with suspected otitis media, what has caused this?
Rupture of the tympanic membrane
What are risk factors for Otitis media?
Younger age, male sex, smoking in the household, formula feeding, craniofacial abnormalities (downs, cleft palate)
What is seen when investigating otitis media with a otoscope?
Red and bulging tympanic membrane with the loss of a normal light reflex. May see acute perforation
What is a possible complication of recurrent otitis media?
Glue ear
What is secretory otitis media?
Middle ear effusion without the symptoms and signs of acute otitis media. Duration is often months, and there may be effusions
What are rare but serious complications of otitis media?
Mastoiditis, meningitis, brain abscess, facial nerve paralysis
What is the most common age for otitis media to occur?
6-12 months
What is the most common cause of conductive hearing loss in children?
Otitis media
How do viruses cause otitis media?
Viral URTIs are thought to disturb the normal nasopharyngeal microbiome, allowing bacteria to infect the middle ear via the Eustachian tube
What symptoms suggest a middle ear effusion?
Bulging of the tympanic membrane, otorrhoea (discharge from the ear), decreased mobility on pneumatic otoscopy
What is the general treatment of acute otitis media?
It is generally a self-limiting condition that does not require an abx prescription. Analgesia can be given to relieve otalgia. Parents advised to seek further help if symptoms worsen/dont improve after 3 days
What are the indications for abx in the treatment of otitis media in children?
<2 years old and bilateral, present for more than 4 days, immunocompromised or at high risk of complications, otitis media with perforation/discharge in the canal
What are gromments, and why would they be indicated?
Tympanostomy ventilation tubes. They are treatment for recurrent secretory otitis media
How do Grommets work?
Allow fluid from the middle ear to drain through the tympanic membrane to the ear canal
What is the first line abx treatment for otitis media?
5-7 days of amoxicillin
What is the common sequelae of otitis media?
Perforation of the tympanic membrane leads to chronic supprative otitis media. This is defined as perforation of the tympanic membrane with otorrhoea for >6 weeks. Leads to hearing loss.
How does glue ear appear on otoscopy?
Eardrum is seen as dull and retracted, often with visible fluid level
What is the potential complication of glue ear?
Usually resolves spontaneously but may cause conductive hearing loss as shown on pure tone audiometry (if >4 years) or a flat trace on tympanometry hearing testing in younger children
What is the main presentation of glue ear?
Hearing loss (can be asymptomatic other than this)
If Grommets have to be replaced twice and still no improvement, what surgery can be considered?
Tonsillo-adenelectomy
What is the pathophysiology of glue ear?
Effusion in the middle ear without an infection, that can occur after slowly resolving/recurrent acute otitis media. The fluid has a deadening effect on the vibrations of the eardrum and ossicles
How can issues with hearing present in paediatric populations?
Mishearing, difficulty communicating in a group, listening to the TV at high volumes. Lack of concentration, withdrawal. Impaired speech and language development, impaired school progress. Balance problems
What is otitis externa?
Inflammation of the external ear canal (also known as Swimmer’s ear)
What is the common presentation of otitis externa?
It commonly presents with minimal discharge, itch and pain due to acute inflammation of the skin of the external auditory meatus.
What are the most common organisms of otitis externa?
Pseudomonas spp., and s. aureus
What is the most common trigger for otitis externa?
Swimming
What are the causes of otitis externa?
Infection (bacterial or fungal), seborrhoeic dermatitis, contact dermatitis
What is the first line treatment for otitis externa?
Topical antibiotic
What are the two categories of hearing loss?
Sensorineural and conductive
What is the most common cause of sensorineural hearing loss?
Genetics
What are the antenatal and perinatal causes of sensorineural hearing loss?
Congenital infection (such as rubella), preterm, hyperbilirubinaemia
What are the postnatal causes of sensorineural hearing loss?
Meningitis/encephalitis, head injury, drugs (such as aminoglycosides, furosemide), neurodegenerative disorders
What extent of hearing loss is seen with sensorineural loss?
May be profound (>95-dB hearing loss)
What is the management of sensorineural hearing loss?
Amplification or cochlear implant if necessary
What is the causes of conductive hearing loss?
Otitis media with effusion (glue ear), Eustachian tube dysfunction, Wax (rarely)
What are possible causes of Eustachian tube dysfunction?
Down Syndrome, Cleft palate, Pierre Robin Sequence, midfacial hypoplasia
What is the extent of hearing loss with conductive loss?
Maximum of 60-dB hearing loss. This is often intermittent and resolves
What is sensorineural hearing loss?
Caused by a lesion in the cochlea or auditory nerve and is usually present at birth. It is irreversible, and can be of any severity
Abnormalities in what part of the ear can cause conductive hearing loss?
Middle ear
How is Conductive hearing loss diagnosed?
Impedance auditory tests, which measure the air pressure within the middle ear and the compliance of the tympanic membrane, determine if the middle ear is functioning normally.
What is the most common cause of bacterial tonsillitis, and what is the treatment?
Group A streptococcus (Streptococcus pyogenes). This can be effectively treated with penicillin V (phenoxymethylpenicillin).
Is tonsillitis more commonly viral or bacterial?
Viral
What is the anatomy of the tonsils, and which are is affected in tonsilitis?
In the pharynx, at the back of the throat, there is a ring of lymphoid tissue. There are six areas of lymphoid tissues, making up the adenoid, tubal tonsils, palatine tonsils and the lingual tonsil. The palatine tonsils are the ones typically infected and enlarged in tonsillitis. These are the tonsils at either side at the back of the throat.
What is the typical presentation of tonsillitis?
A typical presentation is a child with a fever, sore throat and painful swallowing. It can also present with non-specific symptoms, particularly in younger children (fever, poor oral intake, headache, vomiting)
What score of the centor criteria indicates a probability of bacterial tonsillitis?
A score of 3 or more gives a 40 – 60 % probability of bacterial tonsillitis, and it is appropriate to offer antibiotics
What is a possible serious complication of tonsillitis?
Peritonsillar abscess (quinsy)
What is the presentation of quinsy?
Sore throat, painful swallowing, fever, neck pain, referred ear pain, lymphadenopathy, trismus (unable to open mouth), hot potato voice (due to pharyngeal swelling)
How can visual impairment present in a infant or young child?
Obvious ocular malformations, not smiling responsively by 6 weeks post-term, concerns about poor visual response (including eye contact), nystagmus, squint
What can be the causes of an absent red reflex or white reflex?
Opacification of introcular structures, corneal abnormalities, or intraocular tumour (retinoblastoma)
What is nystagmus?
Repetitive, involuntary, rhythmical eye movement
What is peri-orbital cellulitis?
Infection of the peri-orbital skin
What are the most common causative organisms of periorbital cellulitis?
S.aureus or H.influenzae type B
What is the typical course of infection for peri-orbital cellulitis?
URTI followed by a painful swollen eye
What should be the response to suspected periorbital cellulitis?
Medical emergency – requires prompt treatment with a 5-7 day course of IV antibiotics
What is the presentation of peri-orbital cellulitis?
- Systemically unwell with fever, erythema, tenderness over affected area
- pain and swelling over the region
What can happen if periorbital cellulitis is left untreated?
May develop into orbital cellulitis with evolving ocular proptosis, limited ocular movement, and decreased visual acuity. Orbital cellulitis can be life and sign threatening
What investigation can differentiate periorbital cellulitis and orbital cellulitis?
CT scan
What is the difference in the pathology of peri- and orbital cellulitis?
Periorbital cellulitis: eyelid and skin infection infront of the orbital septum
Orbital cellulitis: infection around the eyeball that involves tissues behind the orbital septum (anterior boundary of the orbit)
What are the potential complications of orbital cellulitis?
Surgical emergency with major complications including loss of vision, abscess formation, venous sinus thrombosis and extension to intracranial infection with subdural empyema, and meningitis
What unusual causative organisms should be considered for neonatal presentation of periorbital/orbital cellulitis?
Gonorrhoea and Chlamydia
What are red flag symptoms regarding orbital cellulitis?
Painful or restricted eye movements, Visual impairment: reduced acuity or relative afferent pupil defect or diplopia, Proptosis, Severe headache or other features of intracranial involvement
What is strabismus?
A squint. This is a misalignment of the visual axes
What is manifest strabismus?
Misalignment of the eyes. May only happen intermittently or when tired
What is esotropia?
Squint, eyes inwards
What is exotropia?
Squint, eyes deviated outwards
What is hypertropia?
Squint, eyes drift or look upwards
What is hypotropia?
Squint, eyes drifts or looks downwards
What is latent strabismus?
The eyes are straight when both eyes are open but a deviation of the visual axis can be elicited when each eye is covered. The affected eye will move when covered; eyes stopped from working together. This can develop to manifest strabismus
What is pseudostrabismus?
Looks like there is a squint, but there is not. This may be due to facial appearance (hooded eyes, unilateral ptosis, deepset eyes, facial asymmetry)
What are the possible aetiology of strabismus?
Hereditary, refractive error (eg, hypermetropia, anisometropia) unknown cause (common), secondary to loss of vision, anatomical/mechanical effects, neurological (rare), paralysis of muscles
What is hypermetropia?
Long-sightedness
What is anisometropia?
Condition of asymmetric refraction between the two eyes (eg, different glasses prescription between eyes).
What are the common causes of anisometropia?
This is often due to one eye having a slightly different shape or size from the other causing unequal curving (astigmatism), unequal far-sightedness (hyperopia), or unequal near-sightedness (myopia)
What is Hirschberg’s test? What does it test for?
Strabismus. Shine a pen-torch at the patient from 1 meter away. When they look at it, observe the reflection of the light source on their cornea. The reflection should be central and symmetrical. Deviation from the centre will indicate a squint. Make a note of the affected eye and the direction the eye deviates
What is the cover test?
Test for strabismus. Cover one eye and ask the patient to focus on an object in from of them. Move the cover across to the opposite eye, and watch the movement of the previously covered eye. If this moves inwards, means it had drifted outwards before when covered.
What is paralytic strabismus?
the inability of the ocular muscles to move the eye because of muscular paralysis. Can be sinister due to possibility of underlying space-occupying lesion
What investigations should be done for strabismus?
General inspection, Eye movements, fundoscopy (rule out retinoblastoma, cataracts), visual acuity, Hirschberg’s test, cover test, ocular movements
What is concomitant strabismus?
The deviation of the eyes remains constant with changes in angle of gaze. Usually due to refractive error in both eyes. Glasses often corrects the squint
What is the definition of ambylopia?
Defective visual acuity which persists after correction of the refractive error and removal of any pathology
What is the pathophysiology of strabismus?
When a squint occurs in childhood, before the eyes have fully established their connections with the brain, the brain copes with this misalignment by reducing the signal from the less dominant eye. This results in one eye that is used to see (dominant eye) and one eye they ignore (lazy eye). If this is not treated, the lazy eye gets and more disconnected from the brain (amblyopia)
What is the management for strabismus?
- conservative: glasses, orthoptic exercises
- surgery: muscle resection
- botulinum toxin (inject muscle. Can also be an excellent diagnostic tool pre-operatively)
What muscle should be injected with botox in esotropia?
Medial rectus
What muscle should be injected with botox in exotropia?
Lateral rectus
What lenses are used to correct hypermetropia?
Convex lenses
Where is the image focused in hypermetropia and myopia?
- hypermetropia (long sight): image is focused behind the retina
- myopia (short sight): image focused in front of the retina
What lenses are used to correct myopia?
Concave
What are the most common causes of amblyopia?
Squint, refractive errors, and obstruction to the visual pathway (eg, cataract)
Why does strabismus cause amblyopia?
Amblyopia may occur in squint when the brain is unable to combine the markedly differing images from each eye – the vision from the squinting eye is “switched off” to avoid double vision
What is the treatment for amblyopia?
- treat the underlying condition
- early tx essential: after 7 years old, improvement is unlikely
- patching the good eye for periods in the day to force the ‘lazy’ eye to work
- wear appropriate glasses
- atropine drops in the better eye to dilate the pupil and paralyse accomodation. Makes the other eye work.
What is comitant vs incomitant strabismus?
Comitant: angle of deviation is the same in all positions of gaze, and extraocular movements are full
Incomitant: angle of deivation is different in different positions of gaze. Extraocular movements are not full (worse)
Why is incomitant strabismus a worrying sign?
May be due to restriction or paralysis of extraocular muscles.
How does palsy of the 3rd cranial nerve present
- down and out
- upper eyelid ptosis
- inability to adduct, infraduct, or supraduct
- dilated pupil with sluggish reaction
How does 6th nerve palsy present
inturned eye (esotropia)
What serious conditions can strabismus/amyblyopia suggest in a child?
Retinoblastoma, congenital cataract
What is trisomy 21?
Down’s Syndrome
What is seen in Tetraology of Fallot?
Pulmonary stenosis, Right ventricular hypertrophy, Overriding aorta, Ventricular septal defect (babies with TOF need to PROVe themselves)
What is the first line management of acute status epilepticus?
Benzodiazepine
What is the most common cause of haematemesis in children?
EPHVO (extrahepatic portal vein obstruction)
What is the typical presentation of EHPVO in children?
Child is typically well and the presenting symptom is vomiting out blood. Blood tests are often normal, and the liver is only involved in very advanced cases.
What is leukocoria?
Absent red eye reflex
What childhood infection is associated with Koplik spots?
Measles
How should a bronchodilator best be delievered to a child under 5?
Metered dose inhaler with large-volume spacer
Why are nebulisers less safe than other inhaler options?
They produce more hypoxia than bronchodilators with metered dose inhaler with spacer. They are also more expensive!
Why might genetic screening for cystic fibrosis miss some cases?
Large variety of mutated genes
What investigation can confirm pancreatic insufficiency in children with cystic fibrosis?
Decreased faecal elastase
What is the definition of diarrhoea?
change in consistency and frequency of stools with enough loss of fluid and electrolytes to cause illness
What is the most common cause of diarrhoea? What may it present with?
Infective gastroenteritis. Usually presents with fever and vomiting
What are the causes of diarrhoea (x9)
Infective gastroenteritis, non-enteric infections, food hypersensitivity reactions, NEC, drugs (eg, antibiotics), henoch-schonlein purpura, intussusception, haemolytic-uremic syndrome, pseudomembranous enterocolitis
What is the definition of chronic diarrhoea?
Diarrhoea persisting for >14 days
What initial observational assessments should be made for a child presenting with diarrhoea?
Hydration and vital signs, pallor, abdominal tenderness, signs of associated illness
What treatment is necessary for mild/moderate dehyration?
No tests necessary. Replace fluid and electrolyte losses with oral glucose-electrolyte based rehydration fluid
What investigations + treatment is recommended in severe/shock dehydration?
U&E, creatinine, FBC, blood gas, stool M,C&S/virology, tests for specific disease. Then IV fluid and electrolyte replacement.
What are the possible causes of chronic diarrhoea for children aged 0-24 months?
Malabsorption, food hypersensitivity, chronic non-specific diarrhoea (toddler diarrhoea), excessive fluid intake, protracted infectious gastroenteritis, immuno-deficiencies, hirschsprung’s disease, tumours, fabricated induced illness
What are the possible causes of chronic diarrhoea in older children?
IBD, constipation (impaction), malabsorption, IBS, chronic infections, laxative abuse, excessive fluid intake, fabricated induced illnesses
What can be the aetiology of malabsorption in chronic diarrhoea?
Post-infective gastroenteritis syndrome, lactose intolerance, cystic fibrosis, coeliac disease
What investigations should/could be done for chronic diarrhoea?
Stool sample (microscopy for bacteria or parasites, leucocytes, fat globules, fatty acid crystals, faecal occult blood), blood (U+Es, FBC, increased CRP/ESR), radiology, breath hydrogen test, GI endoscopy, sweat/genetic testing, rectal biopsy
Why is hydrogen breath test done?
Lactose malabsorption or bacterial overgrowth
What is Toddler’s diarrhoea?
Chronic non-specific diarrhoea occurring from 6 months to 5 years
What are the possible pathophysiology for chronic diarrhoea?
Reduced GI absorptive capacity (eg, coeliac disease), osmotic diarrhoea (lactase deficiency), inflammatory (eg, ulcerative colitis), secretory
How does Toddler’s diarrhoea usually present?
With colicky intestinal pain, increased flatus, abdominal distension, loose stools with undigested food (‘peas and carrots’ stools). Child is otherwise well and thriving
What are usually the results of investigations in Toddler’s diarrhoea?
Examination and investigations are normal
What is the treatment for Toddler’s diarrhoea?
Reassurance: dietary (increased fat intake, normalise fibre intake, less milk, fruit juice and sugary drink intake. Loperamide occasionally may be necessary.
What is encopresis?
Voluntary defaecation in unacceptable places, including the child’s pants in older children. No organic abnormality is present – it is a symptom of an emotional disorder
What is the investigations for encopresis?
Once organic disease or spurious diarrhoea secondary to constipation with loading are excluded, consider behavioural problems and referral to a child and adolescent psychiatrist
What are the three types of vomiting?
Acute, chronic, cyclic
What is the definition of acute vomiting vs chronic?
Acute: discrete episode of moderate to high intensity. Most common and usually associated with an acute illness.
Chronic: low-grade daily pattern, frequently with mild illness
What is the definition of cyclic vomiting?
severe, discrete episodes associated with pallor, lethargy +/- abdominal pain. The child is well in between episodes
What are the signs of pathologic vomiting in infants?
Increased volumes, projectile, green/yellow, signs of illness
What are the differentials for bilious vomiting in infants?
Intestinal malrotation with volvulus, atresia/stenosis of the duodenum, Hirschprung’s
What are the differentials for infants with non-bilious vomiting?
Hypertrophic pyloric stenosis, annular pancreas
What are the key differentials for infants >3 months and children of vomiting?
Gastroenteritis, intussusception, gastroparesis, cyclic vomiting syndrome
What are the differentials for adolescents with vomiting?
appendicitis, functional dyspepsia, pregnancy, eating disorders
What are the differentials for cyclic vomiting?
idiopathic, CNS disease, abdominal migraine, endocrine, metabolic, intermittent GI obstruction, fabricated illness
What investigations (if any) should be done for acute vomiting?
FBC, U&E, Creatinine, Stool for culture and virology, AXR, Surgical opinion if obstruction or acute abdomen possible, Exclude systemic disease
What investigations should be done for chronic vomiting?
FBC, ESR/CRP, U&Es,LFTs, Helicobacter pylori serology, urinalysis, abdominal US, small bowel enema, sinus X-rays, test feed or abdominal US for pyloric stenosis, brain imaging (CNS tumour), consider urine pregnancy testing, upper GI endoscopy
What investigations should be done for cyclic vomiting?
Serum amylase, serum lipase, blood glucose, serum ammonia
What are possible complications of vomiting?
- metabolic (potassium deficiency, alkalosis, sodium depletion) - nutritional - mechanical injuries to oesophagus and stomach (Mallory-Weiss, Boerhaave’s syndrome, tears of the short gastric arteries resulting in shock) - dental (erosions and cavities) - oesophageal stricture - anaemia
What is the definition of constipation?
Infrequent passage of stool associated with pain and difficulty or delay in defecation
What is idiopathic constipation?
If it cannot be explained by any anatomical or physiological abnormality
What is possible aetiology of idiopathic constipation?
Low fibre diet, lack of mobility and exercise, poor colonic motility
What is the possible GI related aetiology of constipation?
Hirschsprung’s disease, anal disease (infection, stenosis, ectopic, fissure, hypertonic sphincter), partial intestinal obstruction, food hypersensitivity, coeliac disease
What are the possible non-GI causes of constipation?
Hypothyroidism, hypercalcaemia, neurological disease (eg, spinal disease), chronic dehydration (eg, diabetes insipidus), drugs (eg, opiates and anticholingergics), sexual abuse
What is desensitisation of the rectum?
Patients can develop a habit of not opening their bowels when they need to and ignoring the sensation of a full rectum. Over time they loose the sensation of needing to open their bowels, and they open their bowels even less frequently. They start to retain faeces in their rectum
At what time point does constipation become chronic?
8 weeks
What is the presentation of constipation?
Straining/infrequent stools, anal pain on defecation, fresh rectal bleeding (anal fissure), abdominal pain, anorexia, involuntary soiling (impaction), flatulence, decreased growth, abdominal distension, palpable abdominal masses, anal fissure, abnormal anal tone
What symptoms can be associated with constipation in infants less than 1 year?
Poor appetite that improves with the passage of large stool, waxing and waning of abdominal pain with passage of stool, anal pain
What is Hirschsprung’s disease?
Congenital aganglionic megacolon
What can ribbon stool pattern indicate?
Anal stenosis
What can constipation along with leg weakness or motor delay indicate?
neurological or spinal cord abnormality
What are possible complications of constipation?
Anal fissure (Cycle of pain can then lead to chronic issues), haemorrhoids, rectal prolapse, megarectum, faecal impaction and soiling, volvulus, distress for child and family
What lifestyle management is required for chronic constipation?
Treat underlying cause, dietary improvements (high fibre), behavioural measurements (toilet training measures, such as 5 minute toilet time after meals)
What medical management can be taken for children with chronic constipation where lifestyle factors haven’t made improvements?
Faecal softeners (movicol/lactulose), oral stimulant laxatives (senna, sodium picosulphate)
How can faecal impaction be treated?
High dosage laxatives, such as movical
How can anal fissures be treated?
GTN cream, 2% lidocaine ointment.
What treatments can be given for bowel clean out?
Oral magnesium citrate or magnesium phosphate
What are common organic causes of acute abdominal pain in children?
GORD, peptic ulcer disease, H pylori infection, food intolerance, coeliac disease, IBD, constipation, UTI, dysmenorrhoea, pancreatitis, hepato-biliary disease
What are alarm symptoms of abdominal pain in children?
Involuntary weight loss, deceleration of linear growth, GI blood loss, significant vomiting, chronic severe diarrhoea, persistent right upper or lower quadrant pain, unexplained fever, family hx of IBD, abnormal or unexplained physical findings
What is GORD?
GORD occurs when there is an inappropriate effortless passage of gastric contents into the oesophagus. GORD exists where reflux is repeated and severe enough to cause harm.
What are vomiting red flag symptoms?
Not keeping any food down, projectile or forceful vomiting, bile stained vomit, haematemesis or melaena, abdominal distension, reduced consciousness/bulging fontanelle (meningitis/raised ICP), blood in stools, signs of infection, rash, apnoeas
What causative (non-pathological) factors is GORD associated with?
Slow gastric emptying, liquid diet, horizontal posture, low resting lower oesophageal sphincter
Why is GORD so common in babies??
In babies there is immaturity of the lower oesophageal sphincter, allowing stomach contents to easily reflux into the oesophagus. Most infants stop having reflux by 1 year old.
To what degree is GORD common/unproblematic, and when does it become cause for investigations?
It is normal for a baby to reflux, especially after large feeds. However, signs of being problematic is when it is causing distress, chronic cough, hoarse cry, reluctance to feed, pneumonia, and poor weight gain
What are some possible pathological causes of GORD?
lower oesophageal sphincter dysfunction (eg, hiatus hernia), increased gastric pressure, external gastric pressure, gastric hypersecretion, food allergy, CNS disorder (such as cerebral palsy)
What respiratory symptoms can GORD cause?
Apnoea, hoarseness, cough, stridor, lower respiratory disease (aspiration, pneumonia)
What are the key signs of GORD in a history?
Effortless regurgitation in relationship to feeds
What are the possible complications of problematic GORD?
Oesphageal stricture, Barrett’s oesophagus (premalignant intestinal metaplasia), faltering growth, anaemia, lower respiratory disease, Sandifer’s syndrome
What is Sandifer syndrome?
Rare condition causing brief episodes of abnormal movements associated with GORD in infants. Causes paroxysmal spasms of the head, neck, and back arching, but spares the limbs
What are the key features of Sandifer’s syndrome?
Torticollis (forceful contraction of the neck muscles causing twisting of the neck), dystonia (abnormal muscle contractions causing twisting movements, arching of the back or unusual positions)
What is the stepwise treatment of GORD
- Positioning: nurse infants on head-up slope of 30 degrees. Burp regularly to help milk settle
- Dietary: thickened milk feeds (infants), small frequent meals, avoid food before sleep + fatty foods
- Drugs: gastric acid reducing drugs e.g. H2 receptor antagonists (ranitidine) or omeprazole (if oesophagitis) or Gaviscon
- Surgery; if all else fails
What drugs can reduce gastric acid?
H2 receptor antagonists (ranitidine), PPIs (eg, omeprazole)
What are the contraindications for antidiarrhoeal medications in paediatrics (and why)?
Being under 5 and having D+V caused by gastroenteritis. They have a lack of benefit and cause side effects
What is the common transmission rate for viral gastroenteritis?
Faecal-oral route, often contaminated water
What is the most common cause of viral gastroenteritis in children? What are the other possible causes?
Rota Virus or norovirus (most common). Also enteric adenovirus, astrovirus, CMV in immunocopromised
What is the paediatric presentation of gastroenteritis?
Watery diarrhoea (rarely bloody), vomiting, cramping abdominal pain, fever, dehydration, electrolyte disturbance, upper respiratory tract signs common with rotavirus
What is the treatment for viral gastroenteritis?
Give supportive rehydration orally or with a nasogastric tube, or IV glucose and electrolyte solution
When should hospitalisation be considered with viral gastroenteritis?
> 10% dehydration, unable to tolerate oral fluids
What viral gastroenteritis may cause long term symptoms?
Enteric adenovirus; diarrhoea frequently goes beyond 10 days
What are the common causes of paediatric bacterial gastroenteritis?
Salmonella, Campylobacter jejuni, Shigella, Yersinia enterocolitica, E.coli, C.diff,, vibrio cholerae
What is the presentation of bacterial gastroenteritis?
Same as viral, plus malaise, dysentery (bloody and mucous diarrhoea), abdominal pain (can mimic appendicitis or IBD), tenesmus
(VIRAL SIGNS: Watery diarrhoea (rarely bloody), vomiting, cramping abdominal pain, fever, dehydration, electrolyte disturbance, upper respiratory tract signs common with rotavirus)
What are the possible complications of bacterial gastroenteritis?
Bacteraemia, secondary infections (particularly salmonella, campylobacter), Reiter’s syndrome (Shigella, campylobacter), Guillian-Barre syndrome
What is Reiter’s syndrome?
Can’t see, can’t pee, can’t climb a tree (reactive arthritis after an infection)
What investigations need to be done in bacterial gastroenteritis?
Stool +/- blood culture, stool C.diff toxin, sigmoidoscopy if IBD or colitis
Are antibiotics used in the treatment of gastroenteritis? If yes, when
Antibiotics are not indicated, as the duration of symptoms is not altered and may increase chronic carrier status, unless there is high risk of disseminated disease, presence of artificial implants, severe colitis, severe systemic illness, age <6mths, enteric fever, cholera or E.coli 0157
What is the treatment for campylobacter?
Erythromycin
What is the tx for C.Diff?
Oral vancomycin or metranidazole
What is a possible side effect of C.diff?
Pseudomembranous colitis
What is a possible side effect of E.coli? Why? What treatment should be avoided?
Haemolytic uraemic syndrome due to blood cells being destroyed. The use of antibiotics increases the risk of haemolytic uraemic syndrome, therefore antibiotics should be avoided if E. coli gastroenteritis is considered
What causes bacillus cereus infection?
Spread through inadequately cooked food. It grows well on food not immediately refrigerated after cooking. The typical food is fried rice left out at room temperature.
What is the disease course of gastroenteritis caused by bacillus cereus?
Whilst growing on food it produces a toxin called cereulide. This toxin causes abdominal cramping and vomiting within 5 hours of ingestion. When it arrives in the intestines it produces different toxins that cause a watery diarrhoea. This occurs more than 8 hours after ingestion. All of the symptoms usually resolves within 24 hours.
SHORT COURSE
What bacterial cause of gastroenteritis can particularly cause lymphadenopathy?
Yersinia enterocolitica
What specific presentation can Yersinia Enterocolitica cause? What is the key differentiation
Older children or adults can present with right sided abdominal pain due mesenteric lymphadenitis (inflammation in the intestinal lymph nodes) and fever. This can give the impression of appendicitis.
How long do children need to be isolated from school after gastroenteritis?
48 hours
What electrolyte differences will be seen in secretory diarrhoea?
Increased sodium and potassium. Commonly due to salmonella and e.coli
What are the classifications of dehydration in children?
Mild (<5%), Moderate (5-10%), Severe (10%)
What is the presentation of children with moderate dehydration?
Reduced urine output and dry mucous membranes
What are the red flag features of dehydration?
Pale mottled appearance, cool extremities, tachycardia, tachypnoea, hypotension, delayed capillary refill, change in consciousness
How is moderate dehydration managed?
Oral rehydration fluids (eg, diorlyte)
How is severe dehydration managed?
IV fluids
What is the routine fluid type used in rehydration in children?
0.9% NaCl + 5% dextrose with 10mmol KCl
What are the total daily fluid requirements in children?
1st 10kg of bodyweight at 100ml/kg/day
2nd 10kg of bodyweight at 50ml/kg/day
Remaining bodyweight at 20ml/kg/day
What are the paediatric electrolyte requirements for sodium and potassium?
Sodium: 2-4 mmol/kg/day
Potassium: 1-2 mmol/kg/day
How do you calculate percentage dehydration by weight?
Percentage dehydration = ([well weight(kg)-current weight (kg)]/well weight(kg)) x 100
How do you calculate percentage dehydration by clinical assessment?
Detectable clinical dehydration, but no red flag symptoms: 5%
Red flag symptoms: 10%
When should a fluid bolus be used before replacement fluids in dehydration?
When the child is in signs of shock
How do you calculate fluid deficit?
Fluid deficit (mL)= % dehydration x weight (kg) x 10
What is the difference in where crohn’s disease vs ulcerative colitis affects?
Crohn’s disease favours the ileum, but can occur anywhere along the intestinal tract. Ulcerative colitis affects the colon only
What are pathological changes to the bowel in Crohn’s?
Normal goblet cells, preserved glandular architecture, variable lymphocyte infiltration, granulomas present, transmural granulomatous inflammation. Skip lesions.
What are the pathological changes to the bowel in ulcerative colitis?
Depleted goblet cells, crypt abscesses, atrophic glandular architecture, heavy lymphocytic infiltrate, thickened muscularis mucosa
What is the crows NESTS nmemonic in Crohns?
N: No blood or mucus
E: Entire GI tract
S: Skip lesions on endoscopy
T: terminal ileum most affected and transmural inflammation
S: Smoking is a risk factor
Where is most affected in Crohn’s?
terminal ileum
What is the CLOSE-UP nmeumonic in Ulcerative Colitis?
C: continuous inflammation
L: limited to colon and rectum
O: only superficial mucosa affected
S: smoking is protective
E: excrete blood and mucous
U: use aminosaliclyates
P: primary sclerosing cholangitis
What are the general symptoms of Crohn’s disease?
Diarrhoea, abdominal pain, weight loss/failure to thrive, systemic symptoms (fatigue, fever, malaise, anorexia)
What are the GI signs of Crohn’s disease?
Aphthous ulcers, abdominal tenderness, perianal abscess/fistula/skin tags, anal strictures, abdominal distension, RIF mass
What are the non-GI signs of IBD?
finger clubbing, anaemia, erythema nodosum, pyoderma gangrenosum, arthritis, ankylosing spondylitis, eye issues (iritis, conjunctivitis, episcleritis), poor growth, delayed puberty, renal stones
What investigations should be done for Crohn’s?
Blood: FBC, ESR, CRP, U+E, LFT, ferritin, B12, folate. Serum serological markers (ASCA)
Stool: faecal calprotectin
Colonoscopy and biopsy (gold standard)
Radiology
What are the possible radiological presentation of Crohn’s disease?
Mucosal cobblestone appearance, ulceration, dilatation, narrowed segments, fistula, skip lesions
When are ASCA antibodies present?
Crohn’s disease
What is the treatment for Crohn’s disease?
Inducing remission: steroids (oral prednisolone or IV hydrocortisone). If insufficient, add immunosuppressant medication (azathioprine, methotrexate, infliximab).
Maintaining remission: first line; azathioprine
Surgery can treat strictures and fistulas.
What is the presentation of ulcerative colitis?
Episodic/chronic diarrhoea, crampy abdominal discomfort, bowel frequency dependent on severity, urgency/tenesmus, systemic features. Blood and mucus in excretions
What GI condition is co-morbid with primary sclerosing cholangitis?
Ulcerative colitis
What is seen on histology for UC?
crypt abscesses, mucosal inflammation only, goblet cell depletion
What bacteria should be excluded via a stool sample in IBD?
Campylobacter, C.diff
What is seen on radiology in U.C?
Mucosal ulceration, haustration loss, colonic narrowing +/- shortening
What is the treatment for U.C?
Mild/moderate: 5-ASA (mesalazine) is 1st line. Can be used to maintain remission
Severe: Prednisolone to induce remission
Maintaining remission: mesalazine, azathioprine. Infliximab in severe cases
Surgery
What is erythema nodosum?
tender, red nodules on the shins caused by inflammation of the subcutaneous fat
What is pyoderma gangrenosum?
Rapidly enlarging, painful skin ulcers
What is coeliac disease?
An enteropathy due to life long intolerance to gluten protein
What is the pathology of coeliac disease?
Exposure to gluten causes immune reaction leading to inflammation in the small intestine. T-cell responses to gluten; create autoantibodies, target the small bowel causing villous atrophy and malabsorption.
What are the RF for coeliac disease?
Positive FHx, T1DM, Down Syndrome, IgA deficiency
What is the classic presentation of coeliac disease?
Pallor, diarrhoea, steatorrhoea, anorexia, irritability, ulcers, dermatitis herpetiformis
What are the later symptoms of coeliac disease?
Apathy, gross developmental delay, ascites, peripheral oedema, anaemia, delayed puberty, arthralgia, hypotonia, muscle wasting, specific nutritional disorders
What is coeliac crisis?
A life threatening dehydration due to diarrhoea accompanying malabsorption
Why should children be tested for IgA when they are tested for coeliac disease?
Because if they are IgA deficient they will not produce the usual tTG antibodies, and there may be a false negative
What antibodies are checked in coeliac disease?
Serum tissue transglutaminase IgA antibody
What is the gold standard diagnostic test for coeliac disease
Duodenal biopsy (must maintain high gluten diet or may be false negative!). PArticularly the third part of the duodenum
What will be shown on a duodenal biopsy for coeliac disease?
Diffuse, subtotal villous atrophy, increased intraepithelial lymphocytes, crypt hyperplasia
Why is there malabsorption of nutrients in coeliac disease?
Atrophy of the intestinal villi
What part of the bowel is most affected in coeliac disease?
Jejunum
What other condition should always be checked for after a diagnosis of T1DM?
Coeliac disease
What is Dermatitis herpetiformis and what condition is it associated with?
Itchy, blistering skin rash. Associated with coeliac disease
What is Hirschsprung’s disease?
Birth defect characterised by the absence of ganglions in a segment of the bowel of an infant. Causes peristalsis
What chromosomal deficiency is associated with Hirschspring’s disease?
Trisomy 21
What is IBS?
A mixed group of abdominal symptoms of which no organic cause can be found. Diagnosis of exclusion
When do symptoms become chronic in IBS?
After 6 months
What is the diagnostic criteria for IBS?
Recurrent abdominal pain associated with at least 2 of:
- relief by defecation
- altered stool form
- altered bowel frequency (constipation/diarrhoea)
What are the common causes of poor feeding in children?
MOST COMMON: premature birth
Traumatic birth injuries leading to neurological disorders, cleft lip/palate, autism, neck and head abnormalities, low birth weight, respiratory problems, heart disease
What is the definition of failure to thrive?
Failure to grow at the expected rate (growth falls away from the standardised centiles).
What is the most sensitive indicator of growth in infants vs older children?
Weight in infants/young children, height in older children
What is the main cause of failure to thrive?
Not enough food being offered or taken. Often, poverty is the cause
What are the categories of causes of failure to thrive?
Decreased appetite, inability to ingest, excessive food loss, malabsorption and impaired utilization, increased energy requirements
What are the causes of excessive food loss in FTT?
Severe vomiting (GORD, pyloric stenosis, dysmotility), diabetes mellitus
What are the causes of malabsorption and impaired utilization in FTT?
Cystic fibrosis, coeliac disease, cow’s milk intolerance, chronic diarrhoea, inflammatory bowel disease, pancreatic insufficiency, inborn errors of metabolism, TD1M
What are the causes of increased energy requirements in FTT?
Congenital heart disease, cystic fibrosis, malignancy, sepsis, hyperthyroidism, chronic infection (including UTI!!), TORCH infecitons, CKD
What change in percentile is required to define a child as failure to thrive, if they were between the 9th and 91st centile?
Two or more centile spaces
What is the minimum amount of feed that should be given to babies per day?
150ml/kg/day
What diseases should always be specifically checked for as causes of failure to thrive?
Urine dipstick for UTI, and coeliac screen (anti-TTG). Also just always check the baby is being fed the right amount! Detailed food diary
What are possible causes of nutritional disorders in children?
- diets low in protein, energy, or specific nutrients
- fad or vegetarian diets
- diseases causing malabsorption, severe GORD, immunodeficiency, chronic infection
- eating disorders
Why is mid-upper arm circumference a better indicator of malnutrition than weight?
Because oedema can skew the child’s weight to make them appear heavier than they are
What is Kwashiorkor disease?
A form of severe protein malnutrition characterised by oedema and an enlarged liver with fatty infiltrates
What is the cause of Kwashiorkor disease, and what is the difference from maramus?
Kwashiorkor: sufficient calorie intake, insufficient protein intake
Marasmus: insufficient calories, insufficient protein
What are the clinic features of Kwashiorkor disease?
Growth retardation, diarrhoea, apathy, anorexia, oedema, skin/hair depigmentation, abdominal distension with fatty liver
What are the typical findings in investigation for Kwashiorkor disease?
Hypoalbuminaemia, normo- and microcytic anaemia, low calcium + magnesium + phosphate + glucose
What is Maramus?
A nutritional deficiency where there is inadequate energy intake in all forms, including protein
What are the clinical features of marasmus?
Height preserved compared to weight, wasted appearance, muscle atrophy, listless, diarhoea, constipation
When should babies be back to their birth weight by?
Day 10; if not, need admission to hospital for investigations
What needs to be cautiously avoided when treating nutritional deficiencies?
Re-feeding syndrome
What is haeatochezia?
Passage of fresh blood per the anus
What is pyloric stenosis?
The pylorus of the stomach enlarges as a result of hypertrophy of the circular muscle to produce the typical ‘tumour’
What population is pyloric stenosis most common in?
White males
What are the common clinical features of pyloric stenosis?
- projectile vomiting
- constipation (dry nappies)
- dehydration, malnutrition, jaundice
What are the features of the vomiting in pyloric stenosis?
Projectile, starting in the 3rd-4th week of life. Non-bilious, but may contain some blood. Usually within an hour of feeding
When does pyloric stenosis present?
Within the first 12 weeks
What is done to diagnose pyloric stenosis typically?
Test feed; baby feeds whilst the examiner palpates the baby’s abdomen. Visible waves of peristalsis may be seen passing the upper abdomen. Pyloric tumour can usually be felt early in the feed or just after the baby has vomited
How is the pyloric tumour usually felt in pyloric stensosi?
Firm, olive shaped mass, just above and to the right of the umbilicus during the test feed.
If the pyloric tumour cannot be felt in pyloric stenosis, what is the next investigation?
Ultrasound
What is the typical biochemical abnormality seen in pyloric stenosis?
Hypochloraemic, hypokalaemic metabolic alkalosis
What surgery is done to correct pyloric stenosis?
Ramstedt’s pyloromyotomy; involves splitting the thickened pyloric muscle
What is the pre-operative management for pyloric stenosis?
- rehydrate and correct the alkalosis before surgery
- start IV fluids: 0.45% saline with 5% dextrose and 20mmol/L potassium chloride at 120 ml/kg/day
- without feeds
- monitor electrolytes and capillary blood pH
What is the pathophysiology of Hirschsprung’s disease?
Failure of myentric plexus parasympathetic ganglion cells to migrate to the hindgut. Leads to an absence of co-ordinated bowel peristalsis and functional intestinal obstruction at the junction (‘transition zone’) between normal bowel and distal aganglionic bowel
What is the transition zone in Hirschsprung’s disease?
Junction between the neuroanatomically normal ganglionic colon, and the aganglionic segment
What is the difference between short segment disease and long segment disease in Hirschsprung’s? Which is more common?
Short segment; the transition zone is in the rectum or sigmoid (80% cases). Long segment; the entire colon is involved (20% cases).
What is the typical presentation of Hirschsprung’s disease? When does it present?
Typically presents in the first few days of life. Low intestinal obstruction; failure to pass meconium, abdominal distension, bile-stained vomiting
What is the gold standard of diagnosing Hirschsprung’s disease?
Rectal biopsy (no ganglion cells in the submucosa). Can also do a abdominal xray, which will show the obstruction
What is a possible serious complication of Hirschsprung’s disease? What bacteria is it usually associated with?
Enterocolitis; a dramatic gastroenteritic illness characterised by abdominal distension, bloody watery diarrhoea, circulatory collapse, septicaemia. Usually associated with C.Difficile.
What specific cells have not migrated in Hirschsprung’s?
Myenteric plexus parasympathetic ganglion cells
What is the definitive treatment for Hirchsprung’s?
Surgery
What is intussusception?
When one segment of the intestine telescopes inside of another, causing an intestinal obstruction
Where does intussusception typically occur?
Junction between the small and large intestines
What age of children are typically affected by intussception?
Between 6 and 24 months
What is the typical presentation of intussusception?
Spasms of colic associated with pallor, screaming, drawn up legs. Child asleep between episodes. As intestinal obstruction progresses, bile stained vomiting and rectal bleeding develops (red currant jelly stools).
What is the pathophysiology of intussusception?
Enlarged peyer’s patch in the ileum acts as the lead point that invaginates into the distal bowel. Causes small bowel obstruction. Bowel becomes engorged, causing rectal bleeding. Following this perforation and peritonitis occurs
What is the most common site of intussusception?
Ileocaecal
What typically precedes intusussception and why?
Viral gastroenteritis, as it causes the enlargement of peyer’s patch, which acts as a lead point
What is seen on ultrasound in intussussception?
Target sign
What may be felt on physical examination for intussussception?
Sausage shaped abdominal mass
What is most likely to be the cause of intussusception in older children?
A pathological lead point, such as a polyp or Meckel’s diverticulum
What is the management of intussusception?
- Resuscitation: large volumes of IV fluid needed to restory perfusion
- antibiotics
- analgesia
- pneumatic reduction (air pumped into colon to force bowel into normal shape)
- if the above fails, laparotomy
What is Peyer’s patch?
Groupings of lymphoid follicles in the mucus membrane that lines the small intestine in the ileum
What should be suspected in an infant with gastroenteritis who is not getting better, unusually miserable, vomiting bile/ has blood in stool?
Intussusception
What is the first line investigation for intussusception?
Ultrasound
What is Meckel’s diverticulum?
Presence of the vitellointestinal duct (joins yolk sac to gut development) that usually involutes
What is the rule of 2s in Meckel’s diverticulum
2% of the population, within 2 feet of the ileocaecal valve, 2 inches in length, presentation before the age of 2, 2% are symptomatic, men twice as commonly as women, 2 types of tissue (gastric mucosa and pancreatic tissue)
What is the most common cause of rectal bleeding in children?
Meckel’s diverticulum
What is the common presentation of Meckel’s diverticulum?
GI bleeding (presents as painless, fresh, and sufficient enough to cause a drop in Hb), obstruction, inflammation
What is the diagnostic method for Meckel’s diverticulum, and why is it used?
Technetium 99 scan: has an affinity for gastric mucosa
When should Meckel’s diverticulum be treated?
Symptomatic, or narrow neck
What is meconium ileus?
Bowel obstruction that occurs when the meconium in a child’s intestine is thicker and stickier than normal meconium, creating a blockage in the ileum.
What is the most common cause of meconium ileus?
Cystic fibrosis
How is meconium ileus diagnosed? How does it appear?
Abdominal x-ray, shows characteristic findings of bubbly appearance with a lack of fluid air levels
Why does CF cause meconium ileus?
Lack of pancreatic enzymes results in meconium that is thick and viscous causing an intraluminal obstruction in the terminal ileum. Babies then present at birth with intestinal obstruction
What is the treatment for meconium ileus?
Gastrografin enema (provided no evidence of perforation); draws fluid into the bowel lumen. If not, laparomoty
What is the most common abdominal emergency in children?
Acute appendicitis
What are the possible causes of appendicitis, and the most common one?
Faecolith (most common), tumour, intestinal parasites, hypertrophied lymphatic tissues
What is the disease course of appendicitis?
Begins with obstruction of the lumen of the appendix, often by a faecolith, causing vague central abdominal pain. Then full inflammatory process begins involving the full thickness of the wall. Irritation of the peritoneum results in more severe abdominal pain localised to the right iliac fossa
What is the typical presentation of appendicitis?
- abdominal pain; starts centrally, moves to RIF. Tender over McBurney’s point
- loss of appetitie
- N+V
- Rovsig’s sign
- guarding on abdominal palpation
- rebound tenderness
What does rebound tenderness and percussion tenderness suggest (in the context of appendicitis)?
Peritonitis, caused by a ruptured appendix
What is Rovsig’s sign?
Palpation of the LIF causes pain in the RIF
What are the differentials of appendicitis?
ectopic pregnancy, ovarian cysts, mesenteric adentitis, appendix mass
What is the treatment of appendicitis?
Appendicetomy
What is the diagnosis of appendicitis?
- ultrasound or CT
- generally clinical diagnosis; if suggested clinically but negative investigations, should do diagnostic laproscopy
What is the most common groin hernia in children?
Indirect inguinal hernia
What is a hernia?
Occur when there is a weak point in a cavity wall, usually affecting the muscle or fascia. This weakness allows a body organ that would normally be contained within that cavity to pass through the wall
What are the three key complications of hernias?
Incaceration, obstruction, strangulation
What is incaceration of a hernia?
Where a hernia cannot be reduced back into the proper position (irreducible). The bowel is then trapped in the herniated position. This can lead to obstruction and strangulation
What is hernia strangulation?
Where a hernia is non-reducible, and the base of the hernia becomes so tight it cuts off the blood supply, causing ischaemia. Presents with significant pain and tenderness at the hernia site. Surgical emergency
Is a hernia with a wide or narrow neck more risky?
Narrow; if it has a wide neck, there is less risk of complications. More contents can easily pass through, but also be easily put back
What is Richter’s hernia? Why are they high risk?
Where only part of the bowel wall and lumen herniate through, the other side remaining in the peritoneal cavity. If they become strangulated, progress rapidly to ischaemia + necrosis.
What is Maydl’s hernia?
Where two different loops of bowel are contained within the hernia
What is the difference in direct and indirect inguinal hernias?
Indirect: projects through the inguinal ring (lateral to epigastric vessels)
Direct: projects through abdominal wall (medial to epigastric vessels)
Which side are inguinal hernias more common in boys?
Right, due to the later descent of the right testis
What specific finding indicates indirect inguinal hernia rather than direct?
When an indirect hernia is reduced and pressure is applied (with two fingertips) to the deep inguinal ring (at the mid-way point from the ASIS to the pubic tubercle), the hernia will remain reduced
What causes indirect inguinal hernia?
Due to fetal development. The processus vaginalis is a pouch of peritoneum that extends from the abdominal cavity through the inguinal canal. This allows the descent of testes (from abdominal cavity into scrotum). Normally, after they descend, the deep inguinal ring closes and the processus vaginalis is obliterated. However, in some patients this remains intact, leaving a tract from the abdominal contents. Bowel can herniate along this tract.
What causes direct inguinal hernias?
Weakness in the abdomen at Hesselbach’s triangle. Pressure over the deep inguinal ring doesn’t stop the herniation.
What is the treatment of a incarcertated hernia?
resuscitation of the child and then reduction of the hernia by taxis (gentle but sustained pressure is applied to the sac to reduce the contents). IF it cannot be reduced, emergency surgical exploration is necessary
What is the management of umbilical hernia?
Most will close spontaneously during the first few years of life, regardless of size. If it fails to close by 5 years, surgical repair can be done.
What population are umbilical hernias most common in?
Afro-caribbean children
What are diaphragmatic hernias?
true diaphragmatic hernias are caused by the herniation of abdominal contents through a pathological defect in the diaphragm muscle.
What is Bochdalek hernia?
Diaphragmatic hernia, which is postero-lateral
What is the most common diaphragmatic hernia?
Bochdalek
What is a serious association of diaphragmatic hernias?
Pulmonary hypoplasia (incomplete development of the lungs), due to compression of the lung during development
How are most congenital diaphragmatic hernias diagnosed?
Antenatal ultrasound
What is the prognosis of congenital diaphragmatic hernia if dx antenatally vs birth vs coincidental?
Antenatal: 20% survival
Birth: 60% survival
Coincidental: V.high
What is hiatus hernia?
HH refers to herniation of the stomach into the chest through the oesophageal hiatus in the diaphragm. The lower oesophageal sphincter also moves and becomes incompetent
Where should be the diaphragmatic opening be in relation to the oesophageal sphincter?
At the level of the lower oesophageal sphincter and be fixed in place. It should also be narrow to stop herniation.
What are the types of hiatus hernia, and which is the most common?
Sliding (most common), rolling (rarer), combination
How does hiatus hernia typically present?
Indigestion, heartburn, acid reflux, reflux of food, burping, bloating, halitosis (bad breath)
How are hiatus hernias diagnosed?
Radiologically via barium meal
What is the treatment for hiatus hernia?
- conservative (management of GOR)
- surgical if high risk of complications or severe symptoms; laproscopic fundoplication
What is colic?
When an infant who isn’t sick or hungry cries for more than 3 hours a day, more than 3 days a week, for more than 3 weeks
What is the cause of colic?
Generally unknown. Should rule out underlying organic disease such as constipation, GOR, lactose intolerance, etc.
When does colic usually settle by?
6 months of age
What is the pathophysiology of Cow’s milk allergy?
Can be IgE mediated, in which case there is a rapid reaction to cow’s milk, occuring within 2 hours of ingestion due to histamine release. Non IgE can also occur, which means the reaction occurs over a few days.
What is the general presentation of cow’s milk allergy?
Depends where the allergic inflammation is.
Upper GI: vomiting, feeding aversion, pain
Small intestine; diarrhoea, abdominal pain, failure to thrive
Large intestine; diarrhoea, acute colitis with blood and mucus in stools
General allergy: urticarial rash (hives), angio-oedema (facial swelling), cough or wheeze, sneezing
Why might cow’s milk protein allergy occur in breast fed babies?
The reaction is to cow’s milk protein secreted into breast milk following maternal ingestion
What is the first stage of treating cow’s milk protein allergy?
Limit milk protein intake; in breast fed infants, this is via maternal exclusion diet, and in formula fed insants, feed via hydrolysed formula (short peptides).
Why should milk substitutes not be used as treatment for cow’s milk protein allergy?
Avoid using goat’s or sheep’s milk as a cow’s milk substitute, as 25% will also develop allergy to these milks (cross-reactivity). Similar cross-reactivity also often occurs with soya milk (use not recommended under 6mths)
What is hydrolysed formula, and what are the types? Why don’t they cause a reaction?
They contain cow’s milk, but the proteins have been broken down so they no longer trigger an immune response. In severe cases, infants may require elemental formulas made of basic amino acids.
What is the long term treatment of cow’s milk protein allergy?
Often, children outgrow the condition by age 3 or earlier. Every 6 months, infants can be tried on the first step of the milk ladder (cookie/biscuit)
What is the milk ladder?
cookie -> muffin -> pancake -> cheese -> yoghurt -> pasteurised milk
What is Alpha1-antitrypsin deficiency?
deficiency of a protein that is responsible for controlling inflammatory cascades. Affects the lungs and liver, causing excess breakdown of tissue
What is the inheritance of A1AT deficiency?
Autosomal dominant
What is the commonest genetic cause of liver disease in children? What chromosome?
Autosomal dominant, chromosome 14
What is the gene affected in A1AT deficeicny?
SERPINA1
What is the typical presentation of A1AT deficiency?
Cholestasis in infancy, may progress to liver failure
Cirrhosis can occur in late childhood to adult. Chronic liver disease affects 25% of patients in late adulthood.
Pulmonary emphysema is the commonest presentation in adulthood
What is Kayser-Fleischer rings indicative of?
Wilson’s disease (copper deposits in the eye). Found via slit lamp
What is Wilson’s disease?
Disorder leading to a toxic accumulation of copper in the liver, and in other tissues such as the brain and eye
What is the inheritance of Wilson’s disease?
autosomal recessive
What is the typical first presentation of Wilson’s disease? What are other possible presentations
Liver problems usually arise first. Rarely it can present initially with neurological or psychiatric problems, although these typically occur with more advanced disease.
Copper deposition in the liver leads to chronic hepatitis, eventually leading to cirrhosis. Copper deposition in the central nervous system can lead to neurological and psychiatric problems.
How is Wilson’s disease diagnosed?
Serum caeruloplasmin; if low, indicates Wilson’s, as little is being carried in the blood. Additionally, liver biopsy, and 24 hour urine copper assay
What is the treatment of Wilson’s disease?
Copper chelation using either pencillamine or trientine
What is biliary atresia?
Childhood disease of the liver in which one or more bile ducts are abnormally narrow, blocked, or absent
What is the pathophysiology of biliary atresia?
When a baby has biliary atresia, bile flow from the liver to the gallbladder is blocked. This causes the bile to be trapped inside the liver, quickly causing damage and scarring of the liver cells (cirrhosis), and eventually liver failure
Which populations are more likely to be affected by biliary atresia?
More women than men, and more african americans
What is the presentation of biliary atresia, and when do these symptoms usually appear?
- typically appear within the first two weeks to two months of life
- jaundice
- dark urine
- alcoholic stools
- weight loss and irritability
- enlarged liver
What causes jaundice?
Very high bilirubin pigments in the blood stream
Why do newborns often have jaundice, and when does it usually resolve by?
Due to an immature liver, and the fragile red blood cells in newborns that break down rapidly, and release lots of bilirubin. Usually goes away within the first week- 10 days of life
When does jaundice due to biliary atresia usually develop?
Baby appears normal when born, develops at two or three weeks after birth
Why do babies with jaundice often have dark urine and light stools?
Dark urine is due to a build up of bilirubin in the blood, which is filtered by the kidney and removed in the urine. Acholic stools are due to there being no bile or bilirubin colouring being emptied into the intestine
What is the investigations for biliary atresia?
- blood tests for LFTs
- xrays: look for enlarged liver and spleen
- abdominal ultrasound
- liver biopsy
- radioisotope scan will highlight the liver but poor excretion into the bowel
What is cholestasis?
Where bile cannot be transported from the liver to the bowel
What causes pre-heptic jaundice?
Excessive haemolysis taking place, liver unable to conjugate all excess bilirubin. High levels of unconjugated bilirubin
What causes hepatic jaundice?
Reduced hepatocyte function, meaning bile is not conjugated properly
What causes post hepatic jaundice?
Obstruction of bile drainage
What can confirm diagnosis of biliary atresia?
Diagnostic surgery; cholangiogram
What is the treatment for biliary atresia?
Kasai procedure; re-establishes bile flow from the liver into the intestine
What is neonatal hepatitis syndrome?
Inflammation of the liver that occurs only in early infancy
What should be done if there is jaundice in the first 24 hours of life?
This is pathological, and often can indicate neonatal sepsis, so needs urgent investigations and management
What are the possible causes of neonatal jaundice; increased production?
- haemolytic disease of the newborn
- ABO incompatability
- haemorrhage
- intraventricular haemorrhage
- cephalo-haematoma
- polycythaemia
- sepsis
- G6PD deficiency
What are the possible causes of neonatal jaundice; decreased clearance of bilirubin?
- prematurity
- breast milk jaundice
- neonatal cholestasis
- extrahepatic biliary atresia
- endocrine disorders
- Gilbert syndrome
When is jaundice prolonged in babies?
- more than 14 days in full term babies
- more than 21 days in premature babies
What serious complication can be caused due to excessive bilirubin levels? Why does it develop?
Kernicterus; type of brain damage. Due to bilirubin being able to cross the blood-brain barrier, and damaging the CNS.
How does kernicterus present?
Less responsive, floppy, drowsy baby with poor feeding
What is the presentation of neonatal hepatitis syndrome?
Jaundice that appears at one or two months, not gaining weight or growing normally, hepatosplenomegaly
What is the aetiology of neonatal hepatitis?
CMV, rubella, HeP A/B/C. Due to being infected by the virus before birth via their mother, or shortly after birth
How can the presentation of biliary atresia and neonatal hepatitis be distinguished?
An infant with biliary atresia also has jaundice and an enlarged liver but is growing well and does not have an enlarged spleen. These symptoms, along with a liver biopsy and blood tests, are needed to distinguish biliary atresia from neonatal hepatitis
What is the investigations for neonatal hepatitis, and what is often found?
Liver biopsy. Will show 4 or 5 liver cells combined into a large cell that doesn’t function as well as a normal liver cell (can be called giant cell hepatitis).
What is the difference in prognosis for neonatal hepatitis for Hep A vs Hep B and C?
Neonatal hepatitis caused by the hepatitis A virus usually resolves itself within six months, but cases that are the result of infection with the hepatitis B or C viruses most likely will result in chronic liver disease
What are possible causes of chronic liver failure in children?
- chronic hepatitis (after viral hepatitis B or C)
- biliary tree disease (eg, biliary atresia)
- alpha1-antitrypsin deficiency
- autoiummune hepatitis
- wilson’s disease
- cystic fibrosis
- primary sclerosing cholangitis
- Budd Chiari syndrome
What is the presentation of chronic liver failure in children?
Jaundice, GI haemorrhage (due to portal hypertension and variceal bleeding), pruritus, failure to thrive, anaemia, enlarged hard liver, non-tender splenomegaly, hepatic stigmata, ascites, nutritional disorders, developmental delay
Why does liver failure affect nutrition?
Due to affecting protein metabolism, which occurs in the liver (specifically deamination of AA, urea formation for removal of ammonia, plasma protein synthesis)
What does raised ALT/ AST levels indicate?
hepatocellular injury (high levels in inflammation or damage)
What causes raised ALP?
Derived from biliary epithelial cells and bones; so can be caused by cholestasis or bone disease
What level of bilirubin is usually needed to see jaundice?
When it exceeds 50 micromol/L
What is volvulus?
Volvulus is a condition where the bowel twists around itself and the mesentery that it is attached to. Leads to closed-loop bowel obstruction, and can cause ischaemia and necrosis
Where does volvulus usually occur in paediatric patients?
Caecum
What is the possible causes of intestinal obstruction?
Meconium ileus, Hirschsprung’s disease, oesophageal atresia, duodenal atresia, intussusception, imperforate anus, malrotation of the intestines with volvulus, strangulated hernia
What is the presentation of intestinal obstruction?
Persistent vomiting, often bilious. Abdominal pain and distention, failure to pass stools or wind, abnormal bowel sounds
What is the diagnosis method for intestinal obstruction?
Abdominal xray
What is malrotation?
Failure in embryonic development, mesentery doesn’t fix, meaning predisposition to volvulus
What condition is presumed if an infant presents with bilious vomiting?
Volvulus secondary to malrotation
Why may children develop lactose intolerance following viral gastroenterititis?
Diarrhoea causes the lactase enzyme in the brush border of the colon to be sloughed off
What is enuresis and the treatments?
Failure to stay dry. 1) enuresis alarm 2) desmopressin
What is septic arthritis?
Infection of the surface of the cartilage that lines the joint and the synovial fluid that lubricates the joint
What population does septic arthritis generally affect?
boys under 2
What is the most common causative organism of septic arthritis?
S.aureus
What are the common causative organisms of septic arthritis for <12 months?
S.aureus, group B streptococcus, gram negative bacilli, candida albicans
What are the common causative organisms of septic arthritis 1-5 years?
S.aureus, haemophilus influenzae, group A strep, s.pneumoniae, neirsseria gonorrhoeae (child abuse)
What are the common causative organisms of septic arthritis (5-12 years)?
S.aureus, Group A strep
What are the common causative organisms of septic arthritis 12-18 years old?
Neisseria gonorrhoeae (sexually active)
What joints are most commonly affected in septic arthritis?
75% in the lower limb. Knee > hip > ankle
Where can infection in septic arthritis spread from?
Can develop from osteomyelitis (especially in neonates due to trans-epiphyseal vessels), haematogenous spread of infection, direct inoculation
What is the general presentation of septic arthritis? Infants vs older child
- infants: 50% don’t have a fever and don’t appear ill. Consider as a differential
- older children: acute onset. Hot, red, swollen and painful joint. Refusing to weight bear, stiffness and reduced range of motion. Systemic symptoms such as fever, lethargy, sepsis
What are the investigations for septic arthritis? What is the gold standard?
- GOLD standard: joint aspiration. Send aspirate for MC&S
- blood: FBC, ESR, CRP, blood culture
- xray of joint: normal initially, joint space narrowing and erosive changes
- US: detect effusion and guide aspiration
- MRI: to exclude osteomyelitis
When would a lumbar puncture in septic arthritis? Why?
If septic joint with h.influenzae. Increased incidence of meningitis
What is the management of septic arthritis?
- medical: IV abx after aspirate taken for 3 weeks, then oral abx for 4-6 weeks
- surgical: early referral to orthopaedic team
- splintage
- physiotherapy
What are the possible complications of septic arthritis?
Can destroy the joint and cause serious systemic illness. Hip joint infection has the worst prognosis; avascular necrosis of the femoral head can occur
What is osteomyelitis?
infection in the bone, that can include the periosteum, medullary cavity, and cortical bone
What is the most common causative organism of osteomyelitis?
S.aureus
What is the metaphysis of the bone?
The region where the epiphysis joins the diaphysis
How do most osteomyelitis infections enter the bone?
Most infections are spread via the haematogenous route from a 1° degree of entry e.g. respiratory. May also enter through open fractures/open wounds
What are the risk factors for osteomyelitis?
Open bone fracture, orthopaedic surgery, immunocompromised, sickle cell anaemia, HIV, TB, diabetes, peripheral arterial disease, chronic joint disease
What bones are principally affected in osteomyelitis?
Long bones; tibia > femur > humerus
What is the general presentation of osteomyelitis?
Pain, limping, refusal to walk/weight bear, fever, malaise, flu-like symptoms, overlying may be tender with/without swelling
What is the investigations for osteomyelitis?
Blood: FBC, ESR, CRP, blood cultures
Bone XRay
US-guided aspiration for MC&S
MRI (gold standard for diagnosis)
Bone scans
Open biopsy
What is seen on an xray in osteomyelitis?
Often normal in early stages. Late stages may have metaphyseal rarefaction. Destructive changes may appear in the bone after 10 days
What is the best way to establish a diagnosis of osteomyelitis?
MRI
What is the general management for osteomyelitis?
Antibiotics: 1st line IV flucloxacillin, clindamycin if penicillin allergic. Surgical: drainage and debridement
What group of disorders should be considered in a child presenting with knee pain?
Hip disorders
What are the risk factors of developmental dysplasia of the hip?
- FHx
- Female
- Left > Right
- Breech presentation
What two investigations are done in the NIPE for developmental dysplasia of the hip?
Ortolani, and barlow
What is the aetiology of developmental dysplasia of the hip?
- Capsule laxity: increased type III collagen, maternal oestrogens
- Decreased intrauterine volume: breech position, first born, oligohydramnios
What is ortolani’s test?
Done to see if hip already dislocated. Hip is abducted and gentle pressure is applied to the proximal thigh from behind. Trying to relocate an already discloated femoral head back into the acetabulum. If dislocated, a palpable ‘clunk’ is noticed as the head slides back into place
What is the barlow manuever?
Can the hip be dislocated? Gently adduct and depress femur; the vulnerable hip dislocates
What are the possible complications of developmental dysplasia of the hip?
Avascular necrosis, early oestroarthritic changes
Which hip is DDH more common in?
Left
What is used to confirm the diagnosis of DDH if already clinically suspected?
Ultrasound. However, if the infant is > 4.5 months then x-ray is the first line investigation
What is the management of DDH?
Most unstable hips will spontaneously stabilise by 3-6 weeks. <6 months: Pavlik harness (maintain hip in flexed position with some hip abduction). Old children may require surgery
What is Brodie’s abscess? What disease is it seen in?
Bone sbcesses may become surrounded by thick, fibrous tissue and sclerotic bone (Brodie’s abscess)
What is Perthes’ disease?
Degenerative condition affecting the hip joint of children, due to avascular necrosis of the femoral head, specifically the femoral epiphysis. Impaired blood supply to the femoral head causes bone infarction
What population is Perthe’s most common in?
Boys, aged 4-8 years old (P for perthes, p for primary school)
What are the pathological stages of Perthe’s disease?
- Avascular: hip appears sclerotic, minimal loss of epiphyseal height
- Fragmentation: fissures in epiphysis, followed by severe fragmentation and loss of height
- Remodelling: regeneration, new bone formation, head remodelling
- healed
What is the presentation of Perthes’ disease?
- classical ‘painless limp’ (though hip pain can develop later)
- stiffness and reduced range of hip movement
- xray changes
- no hx of trauma
What are the classical xray changes seen in Perthes’ disease?
Early: widening of joint space
Later: decreased femoral head size/flattening
How is Perthes’ disease dx?
X-ray. If normal and symptoms persists, technetium 99 bone scan or magnetic resonance imaging
What staging is used in Perthes’ disease?
Catterall
What are the potential complications of Perthes’ disease?
The main complication is a soft and deformed femoral head, leading to early hip osteoarthritis. This leads to an artificial total hip replacement in around 5% of patients.
What is the management of Perthe’s disease?
Variable. Initially is conservative, aiming to maintain a healthy position and joint alignment, reduce risk of damage or deformity to the femoral head (bed rest, crutches, analgesia). Later: physio, regular xrays, surgery in severe cases
What is slipped upper femoral epiphysis?
Dislocation of the upper femoral epiphysis on the growth plate (displaced). Femoral neck displaces anteriorly and head remains in the acetabulum
What is the typical patient slipped upper femoral epiphysis occurs in?
Boys, aged 10-15. More common obese children
What is the typical presentation of slipper upper femoral epiphysis?
- hip, groin, thigh or knee pain
- restricted range of hip movement
- painful limp
- restricted movement in the hip
- minor trauma, with disproportionate levels of pain
What rotation/movement is affected in slipped upper femoral epiphysis?
Patient will prefer to keep the hip in external rotation. Will have limited movement of the hip, particularly restricted internal rotation. Limited flexion
What two broad types of children are more likely to experience slipped upper femoral epiphysis?
- obese hypogonadal (low circulating sex hormone; poor skeletal maturation)
- tall, thin, often bous, past growth spurt (over abundance of growth hormones)
What percentage of cases in slipped upper femoral epiphysis bilateral?
20%
What investigations are diagnostic for slipped upper femoral epiphysis?
Xray (AP and lateral views are diagnostic)
What is the treatment of SUFE? What is the aim?
Aim: prevent further slippage and minimise complications
- surgery: internal fixation. Typically a single cannulated screw placed in the centre of the epiphysis
What is genu valgum?
Knock knees. When standing with knees together, medial malleoli are not touching
What is genu varum?
Bowed knees. When the patient stands with ankles together, knees bow
What are osteochondroses?
Spectrum of conditions primarily affecting the epiphyses, may involve the cartilage and bone. Not always due to inflammation, may be due to trauma or over-usage
What is Osgood-Schlatter’s disease?
Failure of the tibia tubercle apophysis due to repetitive traction stress from the extensor mechanism. Type of osteochondrosis
What part of the epiphyses?
Wider section at each end of a long bone
What part of the bone is the diaphysis?
Shaft portion of the long bone
What part of the bone is the metaphysis?
Where the epiphysis meets the diaphysis. During growth, the metaphysis contains the epiphyseal plate
What is the apophysis?
A normal developmental outgrowth of a bone which arises from a separate ossification centre, and fuses to the bone later in development. An apophysis usually does not form a direct articulation with another bone at a joint, but often forms an important insertion point for a tendon or ligament
Which part of the knee attaches the patellar tendon to the tibia?
The tibial tuberosity
What is the pathophysiology of Osgood-Schlatters disease?
Due to the tibial tuberosity being located at the epiphyseal plate. Stress from movements at the same time as growth in the epiphyseal plate results in inflammation on the tibial epiphyseal plate. Multiple avulsion fractures occur, the patella ligament pulls away small pieces of bone. Leads to growth of the tibial tuberosity, causing a visible lump below the knee. Initially tender due to inflammation, then becomes hard and non-tender
What is the general presentation of Osgood-Schlatter’s?
- Visible/hard tender lump at the tibial tuberosity
- pain in the anterior aspect of knee
- pain exacerbated by exercise
What is the management of Osgood-Schlatters?
Conservative, reduce pain and inflammation.
- reduce physical activity
- ice
- NSAIDs
What is a rare and serious complication of Osgood-Schlatters?
Full avulsion fracture, where the tibial tuberosity is separated from the tibia
What is Adam’s disease? Why does it occur?
Medial epicondyle fragmentation or avulsion, and delayed closure of the growth plate. Due to repetitive injury to elbow when throwing/serving (eg, tennis)
What is Kohler’s disease?
Infarction of the navicular bone presenting as medial midfoot pain and a limp in young children (M>F) especially with load-bearing sports
What is discoid meniscus?
Rare anatomic variant affecting lateral meniscus of the knee. Means the meniscus is thicker than norma, often oval or disc shaped. Can be more prone to injury, such as tears
What is the presentation of discoid meniscus?
Mostly asymptomatic. However, can present as insidious popping or snapping without a traumatic origin, which is associated with pain, giving way, effusion, quadriceps atrophy, limited range of motion, and clicking or locking
How is discoid meniscus diagnosed?
Xrays are often normal. MRI can show changes. Diagnostic arthroscopy can confirm the diagnosis
What is the McMurray test?
Tests for a meniscal tear
What is usually seen on physical examination in patients with Discoid Meniscus?
Joint line tenderness and bulging, effusion, positive McMurrays
What is transient synovitis?
Temporary irritaiton and inflammation in the synovial membrane of the hip joint that causes pain, limp, and sometimes refusal to weight bear
What joint is affected in transient synovitis?
The hip
What is the most common cause of paediatric hip pain?
Transient synovitis
What age group is typically affected by transient synovitis?
3-8 years
The absence of what feature differentiates transient synovitis from septic arthritis?
Children with transient synovitis typically do not have a fever
What disease typically precedes transient synovitis?
Viral URTI
What is the presentation of transient synovitis?
Limp, refusal to weight bear, groin or hip pain, no/low temperature, otherwise systemically well
What movements may be limited in transient synovitis?
Limitations in abduction and internal rotation of the hip
What is the log roll test?
The log roll test assesses for pathology within the hip joint, and can be used to isolate the patient’s pathology to the hip as opposed to outside of the hip joint. Abnormal if pain, clicking or increased range of motion.
What is the most sensitive test for transient synovitis?
Log roll
What is the diagnosis process for transient synovitis?
Diagnosis of exclusion to rule out serious conditions. Clinicial examination + x-ray of hip + blood tests
What is the management for transient synovitis?
Conservative. Bedrest, no weight bearing, heat, NSAIDs
What is juvenile idiopathic arthritis?
Autoimmune inflamation occurs in the joints
What is the diagnosis process/requirements for JIA?
A diagnosis of exclusion in children <16yrs old with a history of at least 6wks of persistent arthritis
What are the key features of inflammatory arthritis?
Joint pain, swelling, stiffness
What are the 5 key subtypes of JIA?
Systemic JIA, polyarticular JIA, olgioarticular JIA, enthesitis related arthritis, juvenile psoriatic arthritis
What important differentials should be excluded before diagnosing JIA?
Sepsis, malignancy, trauma
What is the presentation of systemic JIA (Still’s disease)?
Subtle salmon pink rash, high swinging fevers, lymphadenopathy, weight loss, joint inflammation and pain, splenomegaly, muscle pain, pleuritis
What are the serology findings for Still’s disease?
Negative antinuclear antibodies and rheumatoid factors
What are the key differentials for children with fevers lasting more than 5 days?
Kawasaki disease, Still’s disease, rheumatic fever, leukaemia
What is the key complication of Still’s disease?
Macophage activation syndrome (severe activation of the immune system, with massive inflammatory response).
How does macrophage activation syndrome present? What is a key blood finding?
It presents with an acutely unwell child with disseminated intravascular coagulation (DIC), anaemia, thrombocytopenia, bleeding and a non-blanching rash. It is life threatening. A key investigation finding is a low ESR.
What is the presentation of polyarticular JIA?
Idiopathic inflammatory arthritis in 5 joints or more. Tends to be symmetrical, and affect small joints of hands and feet, as well as large joints such as hips and knees. Minimal systemic symptoms
What is the serology findings of polyarticular JIA?
Seronegative for rheumatois arthritis?
How many joints have to be affected for a dx of polyarticular JIA?
5 or more
What is the presentation of olgioarticular JIA?
Involves 4 joints or less, typically only affecting a single joint (monoarthritis). Typically affects larger joints
What population does oligoarticular JIA typically affect?
Girls under 6 years old
What is a classic associated feature of olgioarticular JIA?
Anterior uveitis
What is the associated serology with oligoarticular JIA?
Patients tend not to have any systemic symptoms and inflammatory makers will be normal or mildly elevated. Antinuclear antibodies are often positive, however rheumatoid factor is usually negative
What population is most affected by enthesitis related arthritis?
Boys over 6
What adult group of conditions is enthesitis-related arthritis the paediatric version of?
Seronegative spondyloarthropathy
How was enthesitis of a joint be diagnosed?
MRI: can’t differentiate between stress or autoimmune aetiology
What gene is associated with enthesitis related arthritis?
HLA-B27
What conditions are children with enthesitis related arthritis more at risk of? (and should be screened for?)
Psoriasis, IBD, anterior uveitis
What is seen on physical examination of children with enthesitis related arthritis?
Tender to localised palpation of the entheses
What is the presentation of juvenile psoriatic arthritis?
Varying joint involvement; symmetrical polyarthritis of small joints, or asymmetrical of large joints.
Also, plaques of psoriasis on skin, nail pittingm onchyolysis, dactylitis, enthesitis
What is the general treatment of JIA?
NSAIDs, Steroids, DMARDS (such as methotrexate, sulfasalazine), biological therapy (Eg, TNF inhibitors such as infliximab and adalimumab)
What is the most common form of JIA?
Oligoarticular
What is the general presentation of JIA?
- gradual onset
- inflammatory symptoms worse after rest of inactivity
- stiffness
- associated rash, fever, weightloss
- FHx of arthritis, psoriasis, colitis
What is a common presentation of enthesitis related arthritis?
Plantar fasciitis
What is +ve ANA a predictor of in oligoarticular JIA?
Eye issues
What are general back pain red flag symptoms?
several weeks of symptoms, night pain, worsening symptoms, abnormal neurology, night sweats
What would be expected for ESR/CRP levels in JIA?
Normal or mildly elevated
What is discitis and how does it present?
Inflammation of the disc space. Symptoms: fever, irritability, unwilling to walk, back pain, abdo pain
What is diastematomyelia?
Spinal cord is split by a central cartilaginous/bony prominence. Can surgically resect
What is sacral agenesis, and what population are at risk?
When the sacrum doesn’t form properly. RF: diabetic mother
What is kyphosis?
Increased curvature of the spine in the sagittal plane, visible in the spine
What is the difference between postural and congenital kyphosis? Treatments?
Postural: due to poor posture, flexible, usually painless. Corrected via physio
Congenital: rigid, painful, can be associated with congenital spinal abnormality, treatment via brace?
What is Scheuermann’s disease?
> 45 degrees kyphosis, with >5 degrees anterior wedging at 3 sequential vertebrae (more curved)
What is the presentation of Scheuermann’s kyphosis?
A rounded, hunched back that can’t be straightened. Also back pain between shoulder blades, stiffness
What changes are seen on xray in scheuermann’s disease?
Epiphyseal plate disturbance and anterior wedging
What is the scoliosis?
Lateral curvature (more than 10 degrees) rotation of the spine without an identifiable cause
What are risk factors of scoliosis?
FHx (daughters of affected mothers particularly), Marfans, neurofibromatosis
What is lordosis? Presentation?
Pathological and excessive extension of the secondary spinal curves. Presents with anteriorly rotated hips and excess extension of the lumbar spine
What part of the spine is scoliosis most common in?
Thoracolumbar spine
What complications can be seen in thoracic scoliosis?
Dyspnoea and restrictive lung function pattterns
What complications can be seen in lumbar scoliosis?
Abdominal pain and ‘tightening’ or abdominal viscera
What is osteogenesis imperfecta?
Inherited condition affecting collagen maturation and organisation causing brittle bones
What is the associated symptoms of osteogenesis imperfecta?
Hypermobility, blue sclera, triangular face, short stature, deafness from early childhood, dental problems, bone deformities, joint and bone pain
What type of collage is affected in osteogenesis imperfecta?
Type 1 collagen
What is the inheritance of osteogenesis imperfecta?
autosomal dominant
What are the types of O.I and prognosis?
Type I: mild
Type II: lethal
Type III: severe deforming
Type IV: intermediate
What happens after a fracture in O.I?
Initial bone healing is normal, but there is no subsequent remodelling, and the bone heals with a deformity
What investigations are done for osteogenesis imperfecta?
- prenatal US scan: can detect severe forms in foetus
- molecular genetic testing
- biochemistry: adjusted calcium, phosphate, PTH and ALP results are normal
- skin biopsy: high collagen in fibroblasts
- bone biopsy: histology
What is the treatment for O.I?
- bisphosphonates to increase bone density
- vitamin D supplementation to prevent deficiency
- supportive therapy
- surgery: intramedullary rods
What is rickets?
Metabolic bone disease characterised by inadequate mineralisation of bone and epiphyseal cartilage in the growing skeleton of children
What is the causes of rickets?
Deficiency in vitamin D or calcium.
What is the genetic cause of rickets?
Hereditary hypophosphataemic rickets
What are the causes of calcium deficiency?
Vitamin D deficiency (source: sunlight), nutritional (diet, malabsorption of calcium, CKS, GI bypass surgery)
What is the presentation of rickets?
Metaphyseal swellings (wide wrists), bowing deformities, slowing of linear growth, kyphoscoliosis, Harrison’s sulcus motor delay, hypotonia, fractures, respiratory distress
What biochemical disturbances are seen in rickets?
Low phosphate (fasting), serum calcium variable, raised serum alkaline phosphate, low vitamin D
What is harrison’s sulcus?
indentation on the chest roughly along the 6th rib
What is the investigation for vitamin D? what result indicates deficiency?
Serum 25-hydroxyvitamin D is the laboratory investigation for vitamin D. A result of less than 25 nmol/L establishes a diagnosis vitamin D deficiency
What types of fracture are common in children and why?
Greenstick (one side of the bone breaks, other side intact). Children have more cancellous bone, which is the spongy, highly vascular bone in the centre of long bones; they are flexible but less strong
What Salter Harris classification used for?
Fractures at the growth plate
What is the pain management ladder in children?
- Paracetamol or ibuprogen
- Morphine
What age group are most affected by osteosarcomas?
10-20 years
What bone is most commonly affected by osteosarcoma?
Femur
What is the investigations and findings for osteosarcoma?
Xray. Shows a poorly defined lesion in the bone, destruction of normal bone and a fluffy appearance. Causes ‘sun-burst’ appearanc, and Codman triangle. Can be associated soft tissue mass
What blood test may come back elevated in osteosarcoma?
ALP
What is the Codman triangle?
Periosteal elevation seen on xray due to osteosarcoma
What cancer shows ‘onion skin’ on xray?
Ewing’s sarcoma
What is talipes?
Fixed abnormal ankle position that presents at birth: club foot
What is the ponseti method, and what condition does it treat?
The manipulation of a foot towards normal position via repetitive casts in talipes. It is a way of treating talipes without surgery
What is the definition of anaemia at: neonate, 1-12 months, and 1-12 years?
Neonate: <140g/L
1-12 months: <100g/L
1-12 years: < 110g/L
What are the possible aetiology for microcytic anaemia?
TAILS. Thalassaemia, Anaemia of chronic disease, iron deficiency, lead poisoning, sideroblastic anaemia
What are the possible causes of macrocytic anaemia?
Bone marrow failure syndromes, myelodysplastic syndrome, megaloblastic anaemia, drugs
What are the possible causes of normocytic anaemia?
Acute blood loss, anaemia of chronic disease, aplastic anaemia, haemolytic anaemia, hypothyroidism
What is the most common childhood anaemia?
Iron deficiency
What are the four main categories of causes of iron deficiency?
Inadequate intake (common due to iron being used in growth), increased demand, malabsorption, blood loss
What is the iron content like in breast milk?
Low, but 50% is absorbed
What are birth risks for iron deficiency anaemia?
Pre-term, low birth weight, multiple births
What is the presentation of iron deficiency anaemia?
Most children asymptomatic until bad. Tired, young children feed slower, pallor, PICA (eating inappropriate foods), hair loss, dizziness, palpitations, headaches
Where is most of the body’s iron absorbed?
Duodenum and jejunum.
How do medications such as PPIs that reduce stomach acid, affect iron absorption?
Iron absorption requires acid from the stomach to keep it in its soluble ferrous (Fe2+) form. When there is less acid in the stomach, it turns to the insoluble form, therefore can affect absorption
How does iron travel around the body?
As ferric ions bound to transferrin (carrier protein)
What is total iron binding capacity?
Means there is space on the transferrin molecules for the iron to bind
What form is iron stored in cells?
Ferritin
What pathological process can cause high blood ferritin levels?
Inflammation (released from cells)
What is physiologic anaemia of infancy?
When there is a normal dip in haemoglobin around 6-9 weeks in healthy term babies.High oxygen delivery to the tissues caused by the high haemoglobin levels at birth cause negative feedback. Production of erythropoietin by the kidneys is suppressed and subsequently there is reduced production of haemoglobin by the bone marrow
What causes haemolytic disease of the newborn Rh disease?
Due to incompatibility between the rhesus antigens on the surface of red blood cells of the mother and fetus. When the mother is rhesus D negative, has a baby who is rhesus positive, mother forms anti-D antibodies (sensitisation). In second pregnancy, mother’s anti-D antibodies cross the placenta, and attack baby’s red blood cells (causes haemolsis)
What is a direct Coombs test used for?
immune haemolytic anaemia, such as haemolytic disease of the newborn
What is the treatment of helminth infection (roundworms, hookworms, whipworms)?
Single dose of albendazole or mebendazole
What is megaloblastic anaemia?
Megaloblastic anaemia is the result of impaired DNA synthesis preventing the cell from dividing normally. Rather than dividing it keeps growing into a large, abnormal cell. This is caused by a vitamin deficiency.
What signs can indicate anaemia?
Koilonychia, angular chelitis, atrophic glossitis, brittle hair and nails, jaundice, bone deformities
When might chronic disease cause megaloblastic anaemia?
May cause B12 deficiency, due to defective absorption (ileal resection, IBD, coeliac disease)
How can reticulocytes (immature RBC) indicate the cause of anaemia?
A high level of reticulocytes in the blood indicates active production of red blood cells to replace lost cells. This usually indicates the anaemia is due to haemolysis or blood loss.
What are the causes of folate deficiency?
Malnutrition, malabsorption, increased requirements, drugs, disorders of folate metabolism
What are membranopathies?
Autosomal dominant conditions which result in an abnormally shaped red cells
What is hereditary spherocytosis?
Normal bio-concave disc shaped is replaced by a sphere-shaped RBC due to defect with the cytoskeleton. RBC survival is reduced as it is destroyed by the spleen
What is the most common hereditary haemolytic anaemia?
Hereditary spherocytosis
What is the inheritance of hereditary spherocytosis?
Autosomal dominant
What is the presentation of hereditary spherocytosis?
Failure to thrive, jaundice, splenomgealy, aplastic crisis precipitated by parvovirus infection
What occurs in aplastic crisis?
Increased anaemia, haemolysis and jaundice, without the normal response from the bone marrow of creating new RBC. Thus there is no reticulocyte response. Often triggered by parvovirus infection
How is hereditary spherocytosis diagnosed?
FHx, clinical fetures, spherocytes on blood film, raised mean corpuscular haemoglobin concentration
What is the treatment of hereditary spherocytosis?
Folate supplementation, splenectomy, may need to remove gallbladder
What is hereditary elliptocytosis (and difference between spherocytosis)?
Blood cells are ellipses shaped rather than spheres. Autosomal dominant
What is the commonest red blood cell enzyme defect?
G6PD deficiency
What pattern of inheritance occurs in G6PD deficiency?
X linked recessive
What can trigger a G6PD deficiency crisis?
Infections, medications (such as anti malarials) or fava beans (broad beans)
What is the pathophysiology of G6PD deficiency?
G6PD enzyme is responsible for protecting cells from damage by reactive oxygen species. These are produced during normal cell metabolism and in higher quantities during stress on the cell. Particularly important in red blood cells, when G6PD lacks, leads to haemolysis in RBC. Increased stress can lead to acute haemolytic anaemia
What is the clinical presentation of G6PD?
Anaemia, intermittent jaundice, gall stones, splenomegaly
What are Heinz bodies, and when are they seen?
Seen in G6PD, on a blood film. They are blobs of denatured haemoglobin (inclusions) within RBC
How is G6PD deficiency dx?
G6PD enzyme assay
What are medications that can trigger haemolysis in G6PD deficiency?
Primaquine, ciprofloxacin, nitrofurantoin, trimethoprim, sulfonylurea, sulfasalazine
What can be see on a blood film in G6PD deficiency?
Heinze bodies, bite, and blister cells
When should G6PD enzyme levels be checked?
3 months after (avoid false negative)
What is thalassaemia?
Genetic defect in the protein chains that make up haemoglobin (either in the alpha or beta chains)
What is the inheritance pattern of thalassaemia?
Autosomal recessive
What is the pathophysiology of thalassaemia?
RBC are more fragile and break down more easily. This leads to varying degrees of anaemia. The bone marrow expands to produce extra red blood cells to compensate for the chronic anaemia. This causes a susceptibility to fractures and prominent features, such as a pronounced forehead and malar eminences (cheek bones)
What are the potential signs and symptoms of thalassaemia?
Microcytic anaemia (low MCV), fatigue, pallor, jaundice, gallstones, splenomegaly, poor growth and development, pronounced forehead and malar eminences
How is thalassaemia diagnosed?
FBC showing microcytic anaemia, haemoglobin electrophoresis to diagnose globin abnormalities, DNA testing
Why does iron overload sometimes happen in thalassaemia?
Occurs as a result of the faulty creation of RBCs, recurrent transfusions, increased absorption of iron in the gut in response to anaemia
Why might iron chelation be performed in patients with thalassaemia?
If they are in iron overload
What are the symptoms of iron overload in thalassaemia?
Fatigue, liver cirrhosis, infertility, impotence, heart failure, arthritis, diabetes, osteoporosis and joint pain
Where is the gene coding for alpha thalassaemia?
Chromosome 16
What is the management of alpha thalassaemia?
Monitoring FBC, monitoring compx, blood transfusions, splenectomy, bone marrow transplant (can be curative)
Where is the gene coding for beta thalassaemia?
Chromosome 11
What are the possible divisions of beta thalassaemia? Why?
Major, intermedia, minor. Because the gene defect can consist of abnormal copies that retain some function, or deletion where there is no function at all.
What is the difference between thalassaemia minor, intermedia, and major?
Minor: carriers of abnormally functioning beta globin gene. One normal, one abnormal.
Intermedia: two abnormal copies of the beta globin gene. Can be either two defective genes or one defective gene and one deletion.
Major: homozygous for deletion genes
What causes the anaemia in thalassaemia?
Combination of ineffective erythropoiesis and haemolysis in the spleen
What can be curative in thalassaemia? What is done as maintenance?
Bone marrow tranplant. Monthly blood transufions done
What drug is used in iron chelation? How does it work?
Desferrioxamine; binds to iron in the blood, which is then passed out in the urine
What is Hb Barts hydrops fetalis?
Deletion of all four functional alpha globin genes of haemoglobin; most severe and fatal form of alpha thalassaemia
What is the difference between sickle cell anaemia and thalassaemia?
Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell anemia (a hemoglobinopathy) is a qualitative problem of synthesis of an incorrectly functioning globin
What is the inheritance of sickle cell anaemia?
Autosomal recessive
What is the pathophysiology of sickle cell anaemia?
Abnormal variant called haemoglobin S (HbS)
What is the inheritance of sickle cell anaemia/trait? What chromosome?
Autosomal recessive, chromosome 11. One abnormal copy of the gene results in sickle-cell trait. Patients with sickle-cell trait are usually asymptomatic. They are carriers of the condition. Two abnormal copies result in sickle-cell disease
How does haemoglobin production change between fetal and adult (birth)?
During fetal development, at around 32-36 weeks gestation, fetal haemoglobin (HbF) production decreases, and adult haemoglobin (HbA) increases. There is a gradual transition from HbF to HbA. At birth, around half the haemoglobin is HbF, and half is HbA. By six months of age, very little HbF is produced, and red blood cells contain almost entirely HbA.
What is the link between malaria and SCA?
Sickle cell trait reduces the severity of malaria, without the burden of the disease. Selective advantage
What is the screening offered for SCA?
Newborn blood spot. Pregnant women of high risk also offered screening
What are the potential complications of SCA?
Anaemia, increased risk of infection, CKD, sickle cell crises, acute chest syndrome, stroke, avascular necrosis (large joints such as hip), pulmonary HTN, gallstones, priapism, reduced growth, leg ulcers
What is sickle cell crisis?
Spectrum of acute exacerbations caused by sickle cell disease, ranging from mild to life threatening.
What is the treatment for sickle cell crisis?
Spontaneously, or dyue to dehydration, infection, stress, cold weather, deoxygenation (eg, high altitude)
What is the treatment for sickle cell crisis?
Mostly supportive; hydration, analgesia, treat any infection
What is vaso-occlusive crisis?
Known as painful crisis, and is the most common type of sickle cell crisis. Caused by sickle shaped red blood cells clogging capillaries, leading to distal ischaemia
How does a vaso-occlusive crisis typically present?
Pain and swelling in the hands or feet, but can affect other areas. Can be associated with fever, and priapism in men
What is priapism?
Painful and persistent erection due to blood being trapped in the penis. Urological emergency, treated by aspirating blood
What is splenic sequestration crisis?
Splenic sequestration crisis is caused by red blood cells blocking blood flow within the spleen. It causes an acutely enlarged and painful spleen. Blood pooling in the spleen can lead to severe anaemia and hypovolaemic shock.
What is the treatment of splenic sequestration crisis?
Mostly supportive, with blood transfusion and fluid resuscitation to treat anaemia and shock. Splenectomy can prevent it, and is used in recurrent cases
What are the possible complications of splenic sequestration crisis?
Splenic infarction leading to hyposplenism, susceptibility to infections, particularly from encapsulated bacteria such as streptococcus pneumoniae and H.influenzae
Why are post splenectomy patients more at risk of infection from encapsulated bacteria?
The spleen is crucial to the host response to infection by clearing polysaccharide-encapsulated bacteria. This response involves the clearing of pathogens from the bloodstream as well as the rapid production of specific antigens
What is aplastic crisis? What is the typical cause?
Aplastic crisis describes a temporary absence of the creation of new red blood cells. It is usually triggered by infection with parvovirus B19.
What is acute chest syndrome in SCA?
Occurs when the vessels supplying the lungs become clogged with RBCs
What can trigger acute chest syndrome in SCA?
Vaso-occlusive crisis, fat embolism, or infection
What is the presentation of acute chest syndrome in SCA?
Fever, shortness of breath, chest pain, cough, hypoxia
What is seen on a chest xray in acute chest synrome?
pulmonary infiltrates
What is the management of acute chest syndrome?
Analgesia, hydration, antibiotics/antivirals for infection, blood transfusion, incentive spirometry (encourages effective and deep breathing), respiratory support
What is the management of SCA?
Avoid crises triggers, up to date vaccinations, antibiotic prophylaxis, hydroxycarbamide, crizanlizumab, blood transfusions, bone marrow transplant
What antibiotic can be used as prophylaxis against infections in SCA?
penicillin
How does hydroxycarbamide work in SCA?
Hydroxycarbamide works by stimulating the production of fetal haemoglobin (HbF). Fetal haemoglobin does not lead to the sickling of red blood cells (unlike HbS). It reduces the frequency of vaso-occlusive crises, improves anaemia and may extend lifespan.
How does crizanlizumab work in SCA?
Monoclonal antibody that targets P-selection, which is an adhesion molecule on endothelial cells. Stops RBC sticking to blood vessel walls, reduces vaso-occlusive crises
What are the two specialist drugs used in SCA?
Hydroxycarbamide, crizanlizumab
What is the definitive diagnosis of SCA?
haemoglobin electrophoresis
How is thalassaemia diagnosed prenatally?
CVS
What are the main causes of anaemia of prematurity?
Inadequate EPO production, reduced RBC lifespan, frequent blood sampling whilst in hospital, iron and folic acid deficiency
What is rhesus isoimmunization?
Most severe complication of haemolytic disease of the newborn. Causes the red blood cells to break down, and fetus gets very oedematous due to liver focusing on RBC production, so albumin falls
When does rhesus disease occur?
Rh-ve mother, Rh+ve baby
What antibodies does the mother produce in rhesus negative pregnancy with rhesus positive baby?
anti-D IgG antibodies
How is rhesus disease prevented?
- test for D antibodies in Rh-ve mothers at booking
- can give anti-D to non-sensitised Rh-ve mothers at 28 and 34 weeks
- anti-D prophylaxis
What is the prophylaxis for anti-D disease?
anti-d immunoglobulin
When should anti-d immunoglobulin be given in pregnancy?
either single dose at 28 weeks, or double dose at 28 and 34
What is the Kleihauer test?
Blood test used during pregnancy to screen maternal blood for the presence of red blood cells. Assess the size of fetomaternal haemorrhage, so can see how much fetal blood has entered the maternal circulation. Helps to work out how much anti-D immunoglobulin to give
When should anti-D immunoglobulin be given ASAP (/within 72 hours)
- delivery of Rh+ve infant (live or still born)
- any termination of pregnancy
- miscarriage if > 12 weeks
- ectopic pregnancy
- antepartum haemorrhage
- amniocentesis, chorionic villus sampling, fetal blood sampling
Given at these times as sensitisation could occur
What is the presentation of rhesus disease in the baby (postnatally)?
hydrops foetalis, early jaundice, kernicterus, hepatosplenomegaly, coagulopathy, thrombocytopenia, leucopenia
What is fanconi anaemia?
inherited blood disorder associated with a progressive deficiency of all bone marrow production of blood cells + platelets (pancytopenia) –> leads to aplastic anaemia
What is pancytopena?
Deficiency of all three cellular components of the blood
What is red cell aplasia?
Anaemia secondary to the failure of erythropoiesis
What is aplastic anaemia?
Failure of all three blood lines (RBC, WBC, platelets); pancytopenia
What are the features of aplastic anaemia?
- normochromic, normocytic anaemia
- leukopenia
- thrombocytopenia
- can be presenting feature of ALL or AML
What are the possible causes of aplastic anaemia?
- idiopathic
- cognenital (eg, fanconi)
- drugs: cytotoxics, sulphonamides, phenytoin
- toxins
- infections: parvovirus, hepatitis
- radiation
What drugs can cause aplastic anaemia?
cytotoxics, sulphonamides, phenytoin
What infection can trigger aplastic anaemia?
Parvovirus B19
What are the signs of red cell aplasia?
- low reticulocytes despite low Hb
- normal bilirubin
- negative direct antiglobulin test (Coombs test)
- absent red cell precursors on bone marrow examination
What is the clinical presentation of aplastic anaemia?
- anaemia due to reduced RBC
- infections due to reduced WBC
- bruising (minimal trauma) and bleeding due to thrombocytopneia
- symptoms and signs of anaemia
What is the treatment for aplastic anaemia?
- support the blood count
- bone marrow transplant
- immunosuppression
What is the most common cause of aplastic anaemia?
fanconi anaemia
What is the presentation of fanconi anaemia?
- typically presents aged 4-10 years
- bruising and purpura or insidious onset anaemia
- congenital abnormalities
What is the inheritance of fanconi anaemia?
autosomal recessive
Why has fanconi anaemia got a poor prognosis?
High risk of death from bone marrow failure, transformation to acute leukaemia, or general pancytopenia complications
What is Schwachman-Diamond syndrome?
condition than can cause bone marrow failure and signs of pancreatic exocrine failure and skeletal abnormalities
What are the useful features for evaluating bleeding disorders?
Age of onset, FHx, bleeding hx, pattern of bleeding
When does haemophilia tend to present?
When a toddler is starting to walk
What haemotological disease causes bleeding into muscles or joints?
haemophilia
What haematological disease causes mucous membrane bleeding and skin haemorrhage
Platelet disorders or von Willebran disease
What is the inheritance of haemophilia?
X-linked recessive
What is the commonest haemophilia?
Haemophilia A
What is haemophilia A a deficiency of?
Factor VIII
What is haemophilia B a deficiency of?
Factor IX
What is the pathology of haemophilia?
Deficiency of factors that activate factor X in the clotting cascade. Leads to impaired clotting
What are the clinical features of haemophilia?
Haemoarthroses (bleeding into joints, can lead to crippling arthritis), intracranial bleeds (following minor head trama), prolonged bleeding after surgery or trauma
When does haemophilia typically present?
In the first year of life when children start to crawl/walk and fall over
How is haemophilia A diagnosed?
Increased APTT and decreased factor VIII assay
What is the difference between PT and aPTT clotting factors?
PT is a test of the extrinsic coagulation pathway (also called the tissue factor pathway), which includes factors VII, X, V, and II. APTT tests the intrinsic pathway (also called the amplification pathway or contact system), which includes factors XII, XI, IX, VIII, X, V, and II
What is the treatment of haemophilia?
Avoid NSAIDs and IM injections (including vitamin K at birth), give prophylaxsis (IV recombinant factor VIII or IX).
What drug raises factor VIII levels?
Desmopressin. Can shorten APTT and bleeding time
What is acquired haemophilia: why does it develop and what is the presentation?
a bleeding diathesis causing big mucosal bleeds in males and females caused by suddenly appearing autoantibodies that interfere with factor VIII
How does liver disease cause bleeding disease?
Due to decreased synthesis of clotting factors, decreased absorption of vitamin K, abnormalities of platelet function
What are the vitamin K dependent factors?
10,9,7,2 (1972)
What are the complications of treatment of haemophilia?
- antibodies can form to factor VIII or IX; reduces or inhibits effect of treatment
- transfusion transmitted infections
- issues with vascular access
What are the signs of haemophilia on blood tests?
Prolonged APTT. Normal bleeding time, thrombin time, prothrombin time
What is the inheritance of von Willebrand disease?
Autosomal dominant.
What are the roles of vWF? How does this show in von willebrand disease?
Roles: facilitates platelet adhesion to damaged endothelium, acts as a carrier protein for factor VIII (protects from inactivation and clearance). Thus, lack of vWF leads to bleeding tendency due to VIII deficiency AND failure of platelet adhesion
What is the commonest and rarest forms of vWF disease?
Type 1: most common. Mildest
Type 3: rarest. most severe (recessive).
What is common in haemophilia that is uncommon in von willebrand disease?
In von willebrand disease, spontaneous soft tissue bleeding such as large haematoma and hemarthroses are uncommon
What is the presentation of von willebrand disease?
Bruising, excessive prolonged bleeding after surgery, mucosal bleeding such as epistaxis and menorrhagia
What is seen in investigation for von willebrand disease?
Prolonged bleeding time, APTT prolonged, reduced factor VIII
How is type 1 von willebrand disease typically treated?
Desmopressin: causes secretion of factor VIII and vWF into the plasma. TXA for mild bleeding
Why should desmopressin be used cautiously in the treatment of von willebrand disease in <12 month olds?
can cause hyponatraemia due to water retention leading to seizures
What are they key acquired disorders of coagulation affecting children?
Liver disease, ITP, DIC, haemorrhagic disease of the newborn due to vitamin K deficiency
What are general symptoms of clotting disorders? (rather than platelet disorders)
haemarthrosis, muscle haematoma, prolonged bleeding after surgery
What are the general symptoms of platelet disorders (rather than clotthig disorders)?
Petechiae, bruising, contact bleeding, menorrhagia
What is thrombocytopenia?
Low platelet count
What are the risks of mild, moderate, and severe thrombocytopenia?
Mild: low risk of bleeding
Moderate: risk of excessive bleeding
Severe: risk of spontaneous bleeding
What is ITP?
Immune mediated reduction in platelet count due to the production of IgG antibodies that destroy the platelets
What type of hypersensitivity reaction is ITP?
2
What are petechiae? What is the difference between these and ecchymoses?
Petechiae are pin-prick spots (around 1mm) of bleeding under the skin. Purpura are larger (3 – 10mm) spots of bleeding under the skin. When a large area of blood is collected (more than 10 mm), this is called ecchymoses. These are all non-blanching lesions.
What is the presentation of ITP?
Bleeding (gums, epistaxis, menorrhagia), bruising, petechial or purpuric rash
Who does ITP generally affect?
Children under 10, with a history of a recent viral illness.
What is the investigations for ITP and what do they show?
- FBC: isolated thrombocytopenia
- blood film
- bone marrow examinations only required if atypical features
What is the treatment of ITP?
- generally none: will resolve over time
- if actively bleeding or severe: Prednisolone, IV immunoglobulins, blood transfusions and platelet transufsions (temporarily work until theyre destroyed by antibodies)
- avoid contact sports
What is chronic ITP?
Low platelet count remains after 6 months (rare)
When should a child with chicken pox return to school?
When all spots have crusted over
When should a child with diarrhoea and vomiting return to school?
48 hours from the last episode
When should a child with impetigo return to school?
When lesions are crusted and healed or 48 hours after commencing antibiotics
When should a child with measles return to school?
4 days from the onset of the rash
When should a child with mumps return to school?
5 days from the onset of swelling
When should a child with Scarlet fever return to school?
24 hours after commencing antibiotics
When should a child with Whooping Cough return to school?
48 hours after antibiotics commenced
What is Reye’s syndrome?
A condition that results from aspirin treatment of viral infections in children. Leads to compromised liver function.
What is the presentation of Reye’s syndrome?
Abnormal liver function tests, vomiting, encephalopathy (slurred speech, lethargy, coma, potentially death)
What is kawasaki disease?
Medium sized vessel vasculitis
What is the presentation of Kawasaki disease?
Fever lasting longer than 5 days. At least 4 of the following: conjunctivitis, bright red + cracked lips, strawberry tongue, cervical lymphadenopathy, red palms of hands and soles of feet, which then peel
What type of rash is seen in Kawasaki disease?
Desquamating rash
What population is most commonly affected by Kawasaki disease?
Under 5 years old, boys, asian children
What is a key complication of Kawasaki disease?
Coronary artery aneurysm
What is the key differential in children with a fever lasting more tha 5 days?
Kawasaki disease
What investigations should be done in Kawasaki disease
- FBC: anaemia, leukocytosis, thrombocytosis
- LFTs: hypoalbuminaemia, elevated liver enzymes
- raised inflammatory markers
- ECHO: coronary artery pathology
What is the key investigation in diagnosis of Kawasaki disease?
Trick question! clinical diagnosis, no one single diagnostic test
What is the management of Kawasaki disease?
- high dose aspirin (reduce risk of thrombosis)
- IV immunoglobulins (reduce risk of coronary artery aneursms)
What follow up should be done after Kawasaki disease for monitoring?
Echocardiograms
What are associated features with kawasaki disease?
- MSK: arthralgia and arthritis
- CNS: aseptic meningitis, sensorineural hearing loss
- GI: diarrhoea and vomiting
- cardiac: congestive heart failure, myocarditis, pericardial effusion, arrhythmias
- coronary aneurysms
When are aneurysms seen following kawasaki disease?
Around 7-21 days post onset of fever
What are the 6 exanthemata?
Measles, Group A streptococcus, rubella, coxsackie virus, parvovirus, human herpes virus 6
What is an exanthem?
A rash that ‘bursts forth or blooms’ towards the end of incubating an infection. Widespread, symmetrically distributed. Red, discrete, or confluent macules or papules
What are macules vs papules?
Macules: red/pink discrete, flat areas that blanch on pressure
Papules: small, raised lesions that blanch on pressure
What are vesicleS?
Small, raised lesions that contain clear fluid
What are bullae and pustules?
Large raised lesions containing clear fluid or pus
What causes measles?
Measles virus
What is pathognomic for measles?
Koplik spots (greyish white spots on the buccal mucosa)
When do koplik spots appear in relation to the fever in measles?
2 days after the fever
How long after exposure to the virus does measles start?
10-12 days
How does the rash develop in measles?
Rash starts on the face, classically behind the ears, 3-5 days after the fever. Then spreads to the rest of the body
What sort of rash occurs in measles?
Erythematous macular rash (flat)
How long does it take for measles to resolve?
7-10 days
When is measles infectious?
4 days before to 4 days after the rash
What symptoms occur in the prodrome of measles?
3C’s: cough, coryza, conjunctivitis
How is the diagnosis of measles confirmed?
measles RNA on oral fluid specimen
What is the incubation period of measles?
10-14 days
What is the treatment of measles?
Mostly supportive, contact public health, treat secondary infections, give MMR vaccine if they don’t already have it
What deficiency can lead to a more severe course of measles?
Vitamin A
What are the possible complications of measles; what is most common, what is the largest cause of death?
- otitis media: most common complication
- pneumonia: most common cause of death
- encephalititis
What causes Scarlet Fever?
Group A haemolytic Streptococci (usually S.pyogenes)
What population is typically affected by Scarlet fever?
Children 2-6 years, peak incidence at 4 years
How long is the incubation period for Scarlet Fever?
2-4 days
What is the presentation of Scarlet Fever?
Fever, malaise, sore throat, strawberry tongue, rash (spares palms and soles)
What is the rash in Scarlet Fever?
Fine, puntate erythema, appears first on the torso. Spares palms and soles. Rash often more obvious in flexures. Sandpaper texture.
What is the investigation for measles?
Throat swab
What is the management of Scarlet Fever?
Oral Penicillin for 10 days
What can be a complication of Scarlet fever?
- otitis media
- rheumatic fever
- acute glomerulonephritis
What causes rubella?
The rubella virus
What is the incubation period for rubella?
2- 3 weeks
What is the period of infectivity in rubella?
7 days before the rash to 7 days after the rash
How long does the rash last in rubella?
3 days
How does the rash in rubella present?
Erythematous macular rash, starting on the face and spreading to the rest of the body
What can be associated symptoms of rubella?
Lymphadenopathy, mild fever, joint pain, sore throat
Why should children with rubella avoid pregnant women?
In the first 20 weeks, can lead to congenital rubella syndrome: triad of deafness, blindness, congenital heart disease
What is Fourth disease?
Non specific viral rash
What causes hand food and mouth disease?
Intestinal viruses of the picornaviridae family (coxsackie A16 and enterovirus 71)
What are the clinical features of hand, foot and mouth disease?
Mild systemic upset (sore throat, fever), oral ulcers, vesicles on palms +soles of feet (blister like)
Do children with hand, foot and mouth disease need to be excluded from school?
No
How is hand foot and mouth disease diagnosed?
Viral cultures, PCR
What is fifth disease?
Parvovirus B19: also known as slapped cheek syndrome, and erythema infectiosum
What is slapped cheek syndrome/erythema infectiosum caused by?
Parvovirus B19
What is the prodrome of parvovirus infection, and when does the rash appear?
- mild fever, coryza, non specific viral symptoms
- rash around 5 days: slapped cheeks
- can then spread to limbs, sparing palms and soles; raised and itchy
What worsens the rash in parvovirus?
Sunlight, heat, exercise, stress. Can worsen for many months after illness
What is the complication of parvovirus?
Reduces erythropoiesis; doesn’t affect most patients, but in SCA patients could cause severe aplastic crisis.
What is the complication of parvovirus if encountered in pregnancy?
Cause severe foetal anaemia, can precipitate hydrops foetalis and subsequent miscarriage
What causes Roseola infantum?
Human herpesvirus 6. Rarely HHV-7
What is the disease course of roseola infantum?
- 3-5 day of very high fever (up to 40 degrees), and mild systemic symptoms. Can have cough and diarrhoea. Fever suddenly dissappears
- when fever settles, rash appears for 1-2 days on arms, legs, trunk, face
What rash is present in roseola infantum?
Mild erythematous macular rash, not itchy
What is a possible complication of roseola infantum?
Febrile seizures (most common cause)
What are nagayama spots, and what disease are they seen in?
Papular enanthem on the uvula and soft palate. Seen in roseola infantum
