Paediatrics Flashcards
Obstructive Sleep Apnoea - define, causes, S&S, investigations & management
A syndrome of upper airway dysfunction during sleep, characterized by snoring and/or increased respiratory effort secondary to increased upper airway resistance and pharyngeal collapsibility
tonsillar hypertrophy, adenoidal hypertrophy, obesity/body habits, anatomical difficulties e.g. macroglossia, craniofacial syndromes
daytime (hyperactivity, lack of concentration, sleepiness, moody, behaviour issues) & night time (increased WOB, snoring, gasping, fidgeting, waking in the night, apnoeic episodes)
history & examination, sleep study (gold std)
lifestyle changes (w/l if appropriate), nasal corticosteroids +/- oral montelukast, CPAP or non-invasive positive pressure ventilation, adenotonsillectomy
Asthma - define, risk factors, clinical features, ix & management
DEFINITION Chronic inflammatory airway disease characterised by variable reversible airway obstruction, airway hyper-responsiveness & bronchial inflammation
Aetiology & Risk factors:
GENETIC FACTORS
• Family hx - +ve for asthma or atopy
• Links to multiple chromosomal locations - genetic heterogenicity
ENVIRONMENTAL FACTORS • Childhood paternal smoking • House dust mite • Pollen • Pets
* Viral respiratory tract infections * Spores * Occupational allergens
Presentation/Clinical Features: Symptoms • None when well • Tight chest • Wheeze • Cough (worse in am & pm) • Limitation to exercise • Dyspnoea • Night time waking
Signs • May be normal o/e • Tachypnoea • Tachycardia • Cyanosis • Wheeze & prolonged expiration • Barrel shaped chest • Diurnal variation
Differentials - acute respiratory infection, inhaled foreign body
Investigations & Diagnosis: Bedside • History & Examination • Observations; may be normal or show increased RR/HR • Peak flow
Bloods
• FBC; inc eosinophil count
• U&Es
• CRP
Imaging
• Chest Xray; if any atypical symptoms
○ May show hyperinflation, flattened hemi-diaphragms, atelectasis.
Special Tests • Peak expiratory flow monitoring ○ Diurnal variation, dip in the morning • Pulmonary function tests (Spirometry) ○ Obstructive deficit <0.75 ○ Shows >25% reversibility after B2 agonists • Allergen testing ○ Skin pricks
Diagnosis - NICE or BTS
• BTS Guidelines:
○ clinically high prob, try treatment good resp = asthma
○ If clinically intermediate prob, spiro w/ rev à tx
○ Clinically unlikely look for other causes
• NICE Guidelines: ○ Diagnosis via ‘diagnostic hub’ w/ investigations ○ 1st line; FeNO or spiro w/rev ○ 2nd line; peak flow diary or challenge testing
Management:
Options available
• Bronchodilators (B2 agonists)
○ Short acting beta agonists (SABA); salbutamol // Long acting beta agonists (LABA); salmeterol
• Inhaled corticosteroids (ICS, reduce inflammation)
○ Beclomethasone
• Oral corticosteroids
• Muscarinic
○ Short acting muscarinic antagonists (SAMA); ipratropium // Long acting muscarinic antagonists (LAMA); tiotropium
• Leukotriene receptor antagonist
○ Montelukast
BTS & NICE guidelines for long term management of asthma
BTS Guidelines
SABA (Salbutamol) –> + low dose ICS (beclomethasone) –> LABA, cont. if good response –> Oral LRA/SABA/Theo or LAMA –> Increase ICS, add options from previous step & refer–> Oral corticosteroids
NICE Guidelines
SABA–>low dose ICS–>Oral Montelukast –> LABA –> MART –> increase ICS –>Increase ICS, add theo or LAMA –> Referral
Define types of acute asthma exacerbation
Moderate; PEFR 50-75% of predicted, w/ worsening symptoms
Severe; PEFR 33-55%, RR >25, HR >110, exhaustion or decrease in respiratory effort, can’t complete sentences
Life-threatening; PEFR <33%, silent chest, paO2 <8kPa/sats <92%, normal or rising pCO2, bradycardia, hypotension or confusion
Management of acute asthma exacerbation
OSHITME
Oxygen; high flow Salbutamol (nebuliser) Hydrocortisone Ipratropium (nebuliser) Theophylline infusion MgSO4 Escalation to ITU/HDU
Cystic Fibrosis - define, aetiology, S&S, inx, management
DEFINITION Autosomal recessive inherited multi-system disease characterised by recurrent respiratory tract infections, pancreatic insufficiency, malabsorption & male infertility
Occurs in 1 in 2500 live births, in UK 1 in 25 are carriers
Aetiology
Autosomal recessive genetic disease caused by a defective CFTR gene on chromosome 7q which encodes for cAMP-dependent Cl- channel
• Channel regulated Na & Cl concentrations in exocrine secretions, esp in lung & pancreas
• Any loss of function mutations cause thick secretions
Lots of different types of mutations reported, most common is the ΔF508 (deletion of phenylalanine 508 residue) which causes a CFTR protein which is defective in its ability to traffic to the plasma membrane.
• five classes of CFTR mutations: protein production, protein processing, gating, conduction, and insufficient protein.
Pathogenesis:
Due to defective Cl ion channel there is increased reabsorption of sodium & water leading to increased viscosity of airway secretions
At birth the lungs will have normal histology but as they mature there is mucous gland hyperplasia, recurrent infections lead to fibrosis, consolidation & bronchiectasis
Presentation/Clinical Features: Lung Symptoms • Recurrent respiratory tract infections • Chronic cough • Wheeze • Increased production of sputum • Haemoptysis
Gut Symptoms • Meconium ileus (in neonates, 10-20%) • Steatorrhea • Failure to thrive • Weight loss or poor weight gain • Hepatomegaly
Investigations & Diagnosis:
Screening
• Since 2007, now tested on newborn heel prick testing on day 6
○ Testing for levels of immunoreactive trypsinogen (2-5x raised in babies w/ CF)
○ Test for common CF mutations
Specialist investigations
• Sweat test; analysed for levels of electrolytes, Cl levels are raised in CF (>60 mmol is diagnostic)
• Genetic testing; analysed for specific genetic mutation, may impact on management
• Pancreatic & lung assessments
Management: Respiratory • Regular chest physiotherapy • Bronchodilator therapy • Nebulised mucolytics • Abx prophylactics • Vaccinations
Specialist Medical & Surgical Treatment
• Drugs; ivacaftor, Lumacaftor and ivacaftor (orkambi),Trikafta
• Surgery; transplantation
Gastrointestinal
• Ensuring good nutritional intake & support
• Oral pancreatic enzyme replacement
• Vitamin (fat-soluble) supplements
• May need to consider endocrine help i.e. insulin replacement
Bronchiolitis - define, aetiology, S&S, ix & management
DEFINITION Infection & inflammation of the bronchioles, most commonly caused by respiratory syncytial virus (RSV)
Aetiology & Risk factors:
• Usually occurs in children under 2, peak incidence during autumn & spring months
• Most commonly caused by RSV
○ Other causes include infection with para- influenza, influenza, adenovirus, rhinovirus, metapneumovirus, chlamydia, and Mycoplasma pneumoniae.
• Risk of severe disease in children w/ CLD of prematurity, CHD, immunodeficiency or other lung disease
Presentation/Clinical Features:
Typical presentation: cough & coryzal symptoms followed by difficulty breathing & poor feeding
• Cough - dry
• Coryza
• Wheeze
• Feeding difficulties or reduced feeding
• Episodes of apnoea
Signs on examination: • Increased WOB - use of accessory muscles, tracheal tug, tachypnoea, head bobbing, grunting • Hypoxia • Coarse crepitations • Wheeze • Downwardly displaced liver
Investigations & Diagnosis:
• Observations; assess oxygenation
• CXR: to assess hyperinflation, atelectasis, and consolidation
• Nasopharyngeal swab: immunofluorescent antibody testing for RSV binding
Management:
Mostly supportive treatment
• Oxygen to maintain sats >92%
• If tachypnoeic limit feeds & place NGT to help with feeds
• Bronchodilators (nebulised) to help w/ wheeze
• Mechanical ventilation in severe respiratory distress or apnoea
Prophylaxis
• In some infants e.g. premature, immunodeficient, prophylaxis protection against RSV may be offered = Palivizumab
○ Monthly IM injections from October-February
Croup (laryngotracheobronchitis) - define, causes, S&S, ix & management
DEFINITION Viral laryngotracheal infection
Mucosal inflammation affecting anywhere from the nose to the lower airway that is commonly due to parainfluenza, influenza, and respiratory syncytial virus in children aged 6mths to 6yrs.
Aetiology & Risk factors:
Viral infection including: parainfluenza, influenza & RSV
Presentation/Clinical Features: • Often a prodrome of a typical cold & coryzal symptoms • ''Barking'' cough develops ○ Worse on agitation, crying etc • Fever • Increased WOB • Hoarse voice
Differentials - croup vs epiglottis
Investigations & Diagnosis:
No investigations usually needed as clinical dx, history & examination make up most part
Management:
Home vs Inpatient
• Most children will be able to be safely managed at home w/ good safety netting advice
○ Any recession or stridor at rest to re-present
○ Infants <12mths may need closer monitoring
General Management
• Moist or humidified air
○ although widely used to ease breathing the benefit of these physical measures is unproven.
• Steroids:
○ oral prednisolone (2mg/kg for 3 days) or oral dexamethasone (0.15mg/kg stat dose) or nebulized budesonide (2mg stat dose)
○ reduces the severity and duration of croup, they are also likely to reduce the need for endotracheal intubation.
• Nebulized adrenaline (epinephrine): can provide transient relief of symptoms
Epiglottis - define, aetiology, S&S, ix & management
DEFINITION Bacterial infection & inflammation of the epiglottis
Life-threatening swelling of the epiglottis and septicaemia due to Haemophilus influenzae type b infection—most commonly in children aged 1–6yrs. This is now rare since routine HiB immunization.
Aetiology & Risk factors:
• Bacterial infection - haemophilus influenza B (HiB)
• Occurs most commonly between the ages of 1-6yrs of age
Presentation/Clinical Features: • Fever >38.5 • 'Toxic' looking child • Leaning forwards • Mouth open
- Dribbling
- Slight or no cough
- Soft stridor
- Weak or no voice
Investigations & Diagnosis
Clinical dx, NO investigations done until child stabilised
Can examine child (from afar, careful not to upset them), looking for:
• Degree of stridor and subcostal recession.
• Respiratory rate.
• HR.
• LOC (drowsiness), tiredness, and exhaustion.
• Pulse oximetry.
Management:
Initial priority is to differentiate between croup vs acute epiglottis
• If unsure, stabilise child, keep happy & quiet
• Alert airway team as possible intervention will be needed
Treatment
• Managed in the intensive care unit after endotracheal intubation.
• Once airway is secured blood cultures and start IV antibiotics.
○ 2nd or 3rd generation cephalosporin (e.g. cefuroxime, ceftriaxome, or cefotaxime) IV for 7–10 days.
○ Rifampicin prophylaxis to close contacts.
Prognosis:
With correct treatment most children make full recovery
Testicular Torsion - S&S, ix & management
Must be r/o in any child presenting with acute scrotal pain. Peak incidence occurs around 12yrs of age
Presentation/Clinical Features: • Sudden onset severe testicular pain ○ Often a/w nausea & vomiting • Testicular tenderness • Overlying scrotal skin may be reddened and oedematous
Differentials - epididymo-orchitis, testicular trauma, torted hydatid
Investigations & Diagnosis:
• Mostly clinical dx, investigations must not delay treatment
• USS can be used & will show reduced arterial flow
Management:
• Immediate scrotal exploration is mandatory to salvage the testis, which should then be fixed to prevent recurrence.
• The contralateral testis should also be fixed.
Hypospadias - define & management
DEFINITION Abnormal positioning of the urethral opening, different severities & classified by location of the meatus
Severe forms of hypospadias may be associated with chordee—a ventral curvature of the penis.
Doesn’t tend to cause any dysfunction, any make urinating standing up harder once boys are older. No sexual dysfunction
Hypospadias advice
• Make sure you document the diagnosis in the notes.
• Tell the parents not to circumcise the child.
• Give the parents a letter stating this advice.
• Refer the child to a paediatric surgeon.
Surgery
Surgical correction involves straightening of any chordee and reconstruc- tion of the urethra to the glans. This may involve tubularizing skin from the prepuce so circumcision is contraindicated. The correction can be completed in one or more operations during early childhood.
Duchenne’s Muscular Dystrophy - define, aetiology, S&S, ix
DEFINITION: Inherited disorder of progressive muscle weakness, X-linked recessive disorder with a mutation in the Xp21 gene which produces dystrophin
It affects approx. 1 in 3500 males births. DMD is the most common & most severe form of childhood muscular dystrophy.
Beckers muscular dystrophy is very similar to Duchennes, however the dystrophin gene is less severely affected and maintains some of its function.
Aetiology & Risk factors:
X-linked recessive genetic disorder
• Females can be carriers for DMD but as two copies of X chromosome, they are unlikely to experience symptoms
Pathogenesis:
Mutations within the dystrophin gene (deletions, duplications, and point mutations)
Presentation/Clinical Features:
• 3-5yrs of age w/ pain in pelvis
• Developmental delay
○ especially late walking and speech delay.
• Gower’s manoeuvre sign
○ child climbs up his thighs with his hands to get up off the floor)
• Calf hypertrophy
• Loss of ambulation (mean age 9 years)
• Affected boys develop a progressive cardiomyopathy.
• 30% of boys with DMD have a mild learning disability that is not progressive
Clinical Course
• Most boys end up in a wheelchair as a teenager
• Life expectance of around 25 – 35 years with good management of the cardiac and respiratory complications
○ Most die cardiorespiratory failure or infection
Investigations & Diagnosis:
• Dx based on hugely elevated CK - usually >10x
• Abnormal EMG & nerve conduction studies
• DNA testing will confirm DMD
Spinal muscular atrophy - define, aetiology, S&S, ix
DEFINITION Degeneration of the anterior horn cells - an anterior horn cell disorder
Different Types:
• Type 0 (Neonatal)-Type 3 (later onset)
• Type 1 (1 in 20,000); most severe
Aetiology & Pathophysiology:
• Autosomal recessive disorder caused by bi-allelic mutation in SMN gene on 5q13
• 95% of infants with type 1 SMA are homozygously deleted for exon 7 of the SMN1 gene.
• Progressive loss of motor neurones leading to progressive muscle weakness
• Affects lower motor neurones, so p/w LMN signs
Presentation/Clinical Features:
• Progressive proximal muscular weakness
• Reduced fetal movements
• Limb contractures
• Frog leg posture
• LMN signs i.e. muscle wasting, fasciculations, hypotonia, absent reflexes
○ Clinical examination may show fasciculations of the tongue, an important clinical indicator.
• In severe cases, babies usually feed normally for the first few weeks
with the earliest sign often being of a tiring infant who does not finish his feed.
• Intelligence is unaffected.
Investigations & Diagnosis:
• Diagnosis can be made by molecular genetic testing.
• EMGs are also used
Febrile Convulsions - define, S&S, differentials, ix & management
DEFINTION Type of seizures that occurs in children which is associated with a high fever
Usually occur in children from the age of 6mths-6yrs
○ Unusual to have first febrile convulsion >4yrs of age
Occur in 1 in 300 children
Types
○ Simple febrile seizures (typical): generalized tonic–clonic activity lasting <15min with associated fever.
○ Complex febrile seizures (atypical): these occur in up to 15% of cases and are characterized by focal seizure activity, or prolonged seizure longer than 15min, or multiple seizures within a day.
Aetiology & Risk factors:
Unclear mechanism - but are not due to any underlying neurological pathology or epilepsy
Presentation/Clinical Features:
• Brief generalised tonic clonic-seizure a/w a fever
○ Most last for approx 1-2mins but can also be a few seconds, some may last >15mins
• Tend to occur on first day of fever
• Fever can be >39o but can be normal at time of measurement
Differentials - epilepsy, meningitis, encephalitis, SOL, syncopal episode, electrolyte abnormalities, trauma (NAI)
Investigations & Diagnosis:
• Investigate as normal for a febrile child
○ Urine dipstick, inflammatory markers, CXR, LP as indicated
• Can consider EEG & brain imaging if atypical
Management:
• Diagnose & treat underlying infection
○ Abx if indicated, antipyretic agents
• Status epilepticus pathway if seizure >10mins
○ Rectal diazepam - can repeat if no response
• Parental reassurance & advice, education - should give standard antipyretics early in any febrile illness
• Parents should get expert advice if a previous seizure lasted >10min
Cerebral Palsy - define, aetiology, types/S&S, dx
DEFINITION A chronic non-progressive disorder of movement and/or posture that presents early (i.e. before the age of 2yrs) and continues throughout life. Associated with fixed insult to the developing brain
Aetiology & Risk factors:
CP is caused by a static brain injury to the developing brain
• Prenatal, perinatal or post natal events
○ ischaemia, congenital infection, neonatal meningitis, prematurity, IVH, kernicterus
Presentation/Clinical Features: Spastic CP - features of UMN weakness • Increased tone & reflexes • Reduced power - children can be hemiplegia, diplegia, quadriplegia • Clasp knife or 'catch' in limbs
Dystonic/Dyskinetic - involuntary movements
• Involuntary movements
○ Athetosis - impairs speech
○ Chorea
Ataxic CP - rare • Hypotonia • Wide based gait • Nystagmus • Intention tremor
Spasticity is a stretch-related response characterized by a velocity-dependent, increased resistance to passive stretch.
Investigations & Diagnosis:
• MRI brain to identify the static brain injury
Need to exclude neurodegenerative/metabolic conditions
