CHH Flashcards
Development - 6 weeks
Head control – 45⁰ when prone
Stabilises when sitting
Follows object to midline
Startles to loud noise
Social Smile
Development - 3 months
Head steady when in sitting position
Follows past the midline
Vocalises, coos and laughs
Spontaneous smile
Development - 6 months
Rolls front to back
Palmar Grasp/Transfers
Turns to loud sound, Babbles
Mouths objects, Holds a bottle
Development - 9 months
Stands with support
Pincer Grip
Bangs cubes
Responds to own name
Play’s Peek-a-boo
Holds/Bites food
Development - 12 months
Stands independently
Casts bricks
Mama/Dada
Waves/Claps
Drinks from a beaker with a lid
Development - 18 months
Walks (9-18 months)
2 Cube tower, scribbles
Vocab: 3-6 words, Understands nouns
Imitative play
Development - 24 months
Run, Kicks Ball
4 Cube Tower
Draws a vertical line
Vocab: 50 words
2 Words Together
Understands Verbs
Removes a garment
Development - 2.5 years
Jumps
Throw Ball over head
6 Cube Tower
Draws a Horizontal Line
Vocab: 6 Body parts
3-4 word sentences
Understands prepositions
Eats well with a spoon
Development - 3 years
Balance 1 foot, 1 second
8 cube tower, 3 brick bridge
Draws a circle
Uses Adjectives
Understands negatives
½ understandable speech
Eats with a fork/spoon
Puts on a t-shirt
Takes turns
Development - 4 years
Balance 1 foot, 3 seconds
Hops
Builds Steps (6 bricks) Draws a Cross
Understands Comparatives
Knows 4 colours
Sympathy, imaginative play
Dresses alone
Development - 5 years
Balance 1 foot 5 seconds
Heel-toe walk
Skips
Draws a Triangle & Person 6 parts
Understands Complex (3 part) instructions Counts to 5
Can play a board game
Brushes teeth
Uses a knife
Use of anti-pyretics
Either paracetamol or ibuprofen, but not normally both simultaneously
Generally only used if the child is distressed
Anti-pyretics will not prevent febrile convulsions
Febrile convulsions - when and why?
Ages 6 months to 5 years.
Usually due to infection or inflammation outside the CNS in an otherwise well child
Simple febrile convulsion
isolated, generalised, tonic-clonic seizure
Complex febrile convulsion
Complex if 1+ of:
- Focal onset/focal features
- Duration >15 minutes
- Recurs within 24h/same illness
- Incomplete recovery after 1 hour.
Febrile convulsions - management
- If cease before presentation – do not give drug treatment.
- If >5 mins – rectal diazepam/buccal midazolam.
Always check blood glucose if child is unconscious/is convulsing
How is suspected meningitis managed in the community?
Single dose of benzylpenicillin IV/IM and immediate transfer to hospital (call 999)
Abx in meningitis - <3 months
IV cefotaxime and IV amoxicillin (to cover listeria meningitis) and IV gentamicin
Abx in meningitis - >3 months
IV ceftriaxone
also IV gentamicin (only if probable sepsis)
Management of meningitis
Ideally blood cultures and LP before Abx (unless significant delay)
Start Abx
If probable or confirmed bacterial meningitis – dexamethasone, ideally with first dose of antibiotics
Supportive therapy - high flow O2, fluids, antipyrexials
Why is dexamethasone used in bacterial meningitis?
Decreased sequelae in pneumococcal meningitis and Haemophilus Influenzae meningitis.
No evidence of improved outcome or harm in meningococcus/viral meningitis.
UTI in children
= commonest bacterial infection of children.
Most commonly caused by E. coli.
Urgently admit if <3 months and UTI is suspected.
Older children may also need admission if at risk of serious illness.
When should a UTI be treated?
If leucocytes and nitrites (or just nitrites) are positive on urine dip
If good clinical suspicion of UTI
What should be done if only leucocytes or neither leucocytes/nitrites are raised on a urine dip?
Potentially look for other focus of infection.
Only treat UTI if high clinical suspicion
Follow-up for UTI
When is it appropriate to refer to a specialist?
If not improved after 24-48 hours, review treatment and diagnosis
Follow up result of any urine sent for culture and review antibiotics
Refer urgently to specialist if:
- Poor response to appropriate treatment
- History/clinical features suggest urinary tract obstruction
What age group is affected by bronchiolitis?
Birth – 2 years
BUT most common in 1st year
What causes bronchiolitis?
Viral cause - ~75% RSV
Can be bacterial superinfection in more severe cases
Management of bronchiolitis
- Close fluid management (IV/NG/oral)
- Oxygen to maintain sats
=> may need CPAP/high flow nasal cannula oxygen
~15% of patients will require admission to intensive care for intubation/ventilation
What groups of children are typically affected by viral-induced wheeze?
Age 6 months – 5 years
=> Most will “grow out of it” before school
Association between passive smoking and severe disease.
What can cause viral induced wheeze?
All respiratory viruses
Management of viral-induced wheeze?
Fluids
Oxygen to maintain sats
Salbutamol (10 puffs MDI or nebuliser):
=> Hourly or back-to-back initially
=> Stretch to 2-hourly as tolerated
=> Can discharge when at 3-4 hourly
What is more likely with an older child presenting with viral-induced wheeze?
The child is more likely to present with asthma later on
What age group is affected by croup?
6 months – 6 years
most common age 2-3
what causes croup?
Parainfluenza most common cause, but possible with all respiratory viruses.
Management of croup
Fluids, antipyretics
Aim to keep child calm
Oxygen to maintain sats
Single dose of oral dexamethasone (or nebulised budesonide)
Nebulised adrenaline if inadequate response to steroids
What age group is affected by pneumonia?
All paediatric age range
What causes pneumonia?
Strep. pneumoniae,
Staph. aureus,
H. influenzae,
Some cases are likely to be viral, but cannot be distinguished clinically
Management of pneumonia
Fluids, oxygen to maintain sats.
Amoxicillin 1st line if uncomplicated CAP (5-7 days)
Benzylpenicillin/Cefuroxime if IV treatment needed
Consider macrolide if no response to 1st line treatment at 48h
What causes otitis media?
50% viral cause
Bacterial causes include:
- S. pneumoniae
- H. influenzae
- S. pyogenes
- M. catarrhalis
- S. aureus
Management of otitis media
80% of cases resolve without treatment in ~4 days (regardless of cause)
Delayed Abx may be considered as this is as effective as immediate treatment
=> Amoxicillin – 5 days (clarithromycin if pen allergy)
when might immediate antibiotic treatment be considered in otitis media (instead of delayed Abx)?
in a systemically unwell child with fever, vomiting, pain for >48h and otorrhoea, and those with other comorbidities
What is the most common chronic illness affecting children?
Asthma
What is asthma?
An inflammatory condition, leading to reversible airway obstruction causing intermittent wheeze.
The airways narrow due to smooth muscle contraction and mucous hypersecretion
Symptoms of asthma
Cough, Wheeze, Breathlessness, Chest tightness
AND evidence of variability in airway obstruction
What are signs of poorly controlled asthma?
Increase in cough, SoB, wheeze
Difficulty walking/talking/sleeping
Reduced relief from/frequent use of SABA
What clinical features would increase the probability of a diagnosis of asthma?
Symptoms - frequent, worse at night/early morning, occur in response to triggers
Personal or family Hx of atopy
Widespread wheeze heard on auscultation
History of improvement of lung function in response to adequate therapy
What clinical features would decrease the probability of a diagnosis of asthma?
Symptoms with colds only, no interval symptoms
Isolated cough in the absence of wheeze/SoB
Dizziness/light-headedness/peripheral tingling
Normal PEF when symptomatic
No response to trial of asthma therapy
Clinical features pointing to alternative diagnosis
What PMHx may be relevant for asthma?
Atopy - hay fever, eczema
Recent URTI
What FHx may be relevant for asthma?
Atopy
Asthma
What SHx may be relevant for asthma?
Impact on daily activities/hobbies
Pets
Smoking
Parental smoking
Diagnosis of asthma
Normally based on history and examination
- PEF - looking for reversibility/diurnal variation
- Spirometry (only really from age 6+ due to technique)
- ?IgE/skin prick tests for allergens
- ?CXR to r/o other conditions
Non pharmacological management of asthma
trigger avoidance, breathing exercises
Pharmacological management of asthma
Step-wise approach - start with most appropriate therapy based on presenting severity
SABA as required, plus:
- very low dose ICS (or LTRA if <5 years)
- very low dose ICS plus LABA/LTRA
- consider increasing to low dose ICS
- Refer to specialist care for further therapies
Step up if using SABA >3 times per week.
What is defined as complete control of asthma?
- No daytime symptoms
- No night-time waking due to asthma
- No need for rescue medication
- No asthma attacks
- No limitations on activity, including exercise.
- Normal lung function (FEV1 and/or PEF >80% predicted)
- Minimal side effects from medication
Actions of Salbutamol
Relieve acute breathlessness by relaxing bronchial smooth muscle
Duration of action = 3-6 hours (maximum effect at 30mins)
Side effects of salbutamol
Palpitations, tremor
Vasodilatation,
Hypokalaemia,
Muscle cramps
What would you expect to see on the U&Es of a patient on back-to-back salbutamol nebs?
hypokalaemia
Actions of inhaled corticosteroids
Provide control of the disease by reducing airway inflammation
Symptoms alleviated after ~3-7 days from initiation
When are ICS considered in asthma?
Any child who is:
- Using SABA ≥3 times/week
- Symptomatic ≥3 times/week
- Waking one night a week
- Aged 5-12 years with an exacerbation requiring oral steroids in the last 2 years
Adverse effects of ICS
Local - oral candidiasis, hoarseness, infections
Systemic - growth restrictions, osteoporosis, acute adrenal crisis
Use of LABAs in asthma
Limited evidence for use <5 years, and not licensed for <4 years
Added on to therapy with ICS (not used alone)
Why should a LABA only be used alongside inhaled steroids?
LABA alone causes increased risk of asthma-related death
Use of LTRAs (e.g. montelukast) in asthma
Reduce inflammation and hyper-responsiveness
Regular preventative therapy – alternative to/in addition to ICS
Less effective than ICS alone or ICS plus LABA in children >5
Rare adverse event: Churg-Strauss syndrome
Churg-Strauss syndrome
= a rare form of systemic vasculitis:
eosinophilia, vasculitic rash, worsening pulmonary symptoms, cardiac complications peripheral neuropathy
What are the issues around using aminophylline/theophylline in managing asthma?
Narrow therapeutic range – target plasma levels between 10-20mg/L.
Side effects within therapeutic range – nausea, headache, insomnia, palpitations, arrythmias
At toxic levels – arrythmias and seizures
Indications for use of oral steroids in asthma
- Acute exacerbation – 3-5 days short course
2. Chronic severe asthma – when response to other drugs is inadequate (high dose ICS continued to reduce oral dose).
Stopping oral steroids used for asthma
can be stopped abruptly, UNLESS:
- Course >3 weeks
- Already on maintenance oral corticosteroids
- Repeated short courses.
Use of monoclonal antibody (e.g. Omalizumab) in asthma
s.c. injection every 2-4 weeks depending on the patient’s IgE level and weight
Reduces the steroid burden for the patient, without increasing the risk of adverse events
mAb forms complexes with free IgE and prevents its interaction with these receptors
What is important to remember when prescribing salbutamol
State the dose, frequency, and max number of doses in 24h explicitly to the child/parents
“as required drug” in a hospital drug chart
route - inhaled or via nebuliser
What is important to remember when prescribing ICS
Prescribe by BRAND!
Important to put brand name and dose
regular prescription on drug chart
What is important to remember when prescribing a LABA
regular prescription on drug chart
Often in combination inhalers (e.g. seretide)
Do not initiate in rapidly deteriorating asthma
Initiate at a low dose and check effect before increasing – review effect regularly
Benefits of using a spacer in asthma
- Remove the need for coordination – tidal breathing is effective.
- Reduce risk of oral infection from ICS
- Suitable for managing mild/moderate exacerbations.
Stepping down asthma treatment
Review regularly and titrate steroids down if possible.
Do not step-down treatment if ongoing symptoms and needing reliever, or if they have had a recent exacerbation
If there is symptom control - reduce ICS dose slowly
(e.g. by 25-30% every 3 months)
Severe asthma exacerbation
SpO2 <92% PEF 33-50% Tachypnoea Tachycardia Audible wheeze Accessory muscle use
Signs/symptoms suggesting a life-threatening asthma attack
SpO2 <92% PEF <33% RR reduced (exhaustion) Tachycardia Silent chest Cyanosis Altered consciousness/confusion
Life-threatening asthma exacerbation - “CHEST”
Cyanosis Hypotension Exhaustion Silent chest Tachycardia
Mild-moderate Asthma exacerbation - management
Admission if poor response
SABA via spacer (up to 10 puffs every 2 mins)
Consider PO prednisolone
Moderate-severe Asthma exacerbation - management
Admission
O2 via mask (if sats <94%)
SABA via nebuliser (if on O2)
PO prednisolone 20mg
life-threatening Asthma exacerbation - management
Initially
- Urgent admission
- O2 (if sats <94%)
- SABA + ipratropium via nebuliser (every 20-30 minutes)
- PO prednisolone / IV hydrocortisone
If no improvement:
- Contact PICU for review
- IV treatments – magnesium, aminophylline
- Blood gases
When can a patient be discharged after admission for an asthma exacerbation?
May be discharged when off nebulisers and >4 hours between inhalers:
- Continue SABA PRN
- Continue prednisolone PO for 3-5 days.
GP follow-up in 48 hours
What is the difference between normal saline and Hartmann’s solution?
Hartmann’s is considered to be more “physiological” than Normal Saline as it contains other electrolytes in concentrations similar to plasma.
Both are distributed in the intra-vascular and interstitial spaces, making them useful for both resuscitation and fluid maintenance.
How to calculate fluid requirements in children?
First 10kg weight => 100 mL/kg OR 4 mL/kg/hour
Second 10kg weight => 50 mL/kg OR 2 mL/kg/hour
All additional Kg weight => 20 mL/kg OR 1 mL/kg/hour
Which solutions should be used for maintenance fluids in children?
Isotonic crystalloids that contain sodium in the range 131-154 mmol/L must be used as first line maintenance fluids and for resuscitation, commonly used with 5% glucose
AVOID fluids with low/no saline
Why should fluids with no/low saline be avoided for maintenance fluids in children?
Children are more prone to dilutional hyponatraemia than adults
Increased ADH production during illness causes retention of water, and thereby increased risk of dilutional hyponatraemia
Monitoring for IV fluids
Check U&Es at least daily (every 4-6 hours if abnormal)
Assess fluid balance (input vs output) and hydration status
Check blood glucose at least every 12 hours
If hyponatraemia symptoms – check U&Es, glucose and serum osmolality immediately
Dilutional Hyponatraemia
the most common electrolyte abnormality seen in patients on IV fluids
Predominantly neurological symptoms – seizures, drowsiness, confusion.
Hyponatraemic seizures (usually generalized tonic-clonic) are a medical emergency
Recognising hyponatraemia
Na+ of 130-135 is often asymptomatic
Na+ <130 is mainly neurological symptoms:
- Headache
- N+V
- Lethargy, irritability
- Hyporeflexia
- Decreased conscious state
- Seizures
- Dry, inelastic Skin
- Apnoea
How much potassium should be added to IV fluids?
If K+ serum level is in range when starting fluids, aim to give about 1mmol/kg/day
=> split across fluid bags and then adjust according to U&Es
If K+ serum level is unknown when starting fluids – give with caution/avoid until serum level known and urine output established
How can you recognise dehydration in a child?
Gold standard = acute weight loss
Normally just estimated clinically:
3 groups to consider:
- No clinically detectable dehydration
- Clinical Dehydration
- Clinical Shock – ~10% dehydrated.
What features might suggest clinical dehydration?
Tachycardia
CRT >2s
Decreased skin turgor
Tachypnoea
What features might suggest clinical shock in a dehydrated child?
Weak pulses CRT >3s Decreased skin turgor Hypotension Decreased consciousness Very tachycardic
Management of a child who is clinically dehydrated
ORT 50ml/kg over 4 hours PLUS maintenance fluid (via NG tube if needed)
Use IV fluids if child deteriorates despite ORT/persistent vomiting of anything given PO or NG tube
Management of a child who is clinically shocked
Sodium chloride 0.9% 20mL/kg IV bolus
=> repeat if remains shocked
=> refer to PICU if shocked after 2nd bolus
One shock resolved, commence IV deficit replacement
Attempt to stop IV fluids early, with gradual introduction of ORT during IV fluids.
What is the size of an IV fluid bolus in a child?
20 mL/kg
Oral Rehydration Therapy
Dioralyte – 1 sachet in 200ml.
- Under 5 years – aim for 50mL/kg over 4 hours, plus maintenance volume.
- Over 5 years – 200mL after each loose stool (in addition to normal fluid intake)
How to calculate IV fluid replacement
if shocked, then add 100 ml/kg to maintenance and give over 24 hours
if not shocked, add 50 mL/kg to maintenance and give over 24 hours
Fluid choice for resuscitation vs replacement
Resuscitation – isotonic crystalloid without glucose.
Replacement – isotonic crystalloid with glucose.
HYPERtonic dehydration
How is this caused?
Presentation?
How is it corrected?
Na+ >150
Can occur through severe, acute water loss.
More commonly occurs by parents making up feeds incorrectly
Child often hungry, but few signs of dehydration. Skin can be “doughy” and metabolic acidosis present.
Aim for correction over 48 hours and fall of <0.5 mmol/L Na+ per hour.
HYPOtonic dehydration
Na+ <130
Usually dilutional
Child lethargic and skin dry/inelastic
Give maintenance fluids plus deficit as calculated, checking U&Es every 4 hours.
how should hypertonic dehydration NOT be managed?
DO NOT manage hypertonic dehydration with fluid with no sodium – rapid drops in serum sodium causes a relatively high CSF sodium, attracting water into the CSF (can be fatal).
How is the foetal circulation different to “normal” circulation?
- Left atrium pressure is low, as little return from the lungs
- Right atrium pressure is high, as it receives all systemic blood (including from placenta).
- RA pressure keeps foramen ovale open, and blood flows from RA to LA.
- Blood also bypasses lungs by flowing through the ductus arteriosus.
How does the foetal circulation change at birth?
Decreased pulmonary resistance => more blood into LA => increased LA pressure
Loss of placental circulation => decreased RA pressure
Foramen ovale closes
Ductus arteriosus closes within the first few hours/days
What are “duct-dependent lesions?”
In severe left-sided obstructions, blood flow through the ductus arteriosus is critical for survival.
There will be a dramatic deterioration when the duct closes
=> Tetralogy Of Fallot, TGA, HLHS, aortic stenosis/coarctation
Congenital heart disease - Holes
atrial septal defect (ASD)
ventricular septal defect (VSD)
Atrioventricular septal defect (AVSD)
Congenital heart disease - pipes/valves
Patent ductus arteriosus (PDA)
Aortic/pulmonary stenosis
Coarctation of the aorta
Congenital heart disease - CYANOTIC diseases
Transposition of Great Arteries (TGA) Tetralogy of fallot Hypoplastic left heart Tricuspid Atresia Pulmonary Atresia
How can congenital heart conditions present?
- Antenatal cardiac USS diagnosis (at 20 weeks)
- Detection of a heart murmur
- Heart failure
- Cyanosis
- Shock and collapse
Innocent heart murmurs
30% of children will have at some point (often during febrile illness/anaemia)
= Soft, Systolic, Sternal Edge, Asymptomatic, No thrills and normal CXR/ECG
Presentation of atrial septal defect
Child will generally be fairly well
Often presents when the child visits the GP for another reason and a murmur is heard = EJECTION SYSTOLIC murmur (split S2)
Why are ASD/VSDs and PDA not cyanotic diseases?
Left-to-right shunt => no cyanosis
Atrial septal defect - Investigations
ECG - potentially partial RBBB/right axis deviation
CXR - pulmonary oedema, cardiomegaly
Is patent foramen ovale an ASD?
It is a normal variation of the anatomy
Fairly common and goes unnoticed.
Atrial septal defect - Management
Usually no urgent treatment required
Can close spontaneously
Keyhole or surgical procedure to close it at ~4 years
What is the most common congenital heart defect?
VSD
2nd most common = coarctation of aorta
When is a VSD normally found?
- Identified as incidental finding at 6-week baby check (by that point the right-sided pressure has come down and the murmur will be audible)
- Failure to thrive.
What type of murmur occurs with a VSD?
= Pansystolic
The volume of the murmur does not correlate well with the size
Ventricular septal defect - Investigations
ECG – Right axis deviation and biventricular hypertrophy.
CXR – pulmonary oedema, cardiomegaly
Ventricular septal defect - Management
Can resolve spontaneously
Surgery to fix at <1 year.
What is Maladie de Roger ?
A very small VSD
=> High pitched squeaking sound
What is Eisenmenger’s Syndrome?
Long standing left-to-right shunt (e.g. untreated VSD) causes right ventricular hypertrophy
Eventually this leads to reversal of the shunt to a cyanotic right-to-left shunt.
Incidence of Eisenmenger’s is decreasing - earlier diagnosis and management
What genetic condition is strongly associated with AVSD?
Trisomy 21
90% of AVSDs will be in children with Down’s
What type of murmur occurs with an AVSD?
= Pansystolic murmur
Atrioventricular septal defect - Investigations
ECG – superior (north-west) axis
CXR – pulmonary oedema, cardiomegaly
Atrioventricular septal defect - Management
Surgery <6 months
Patent Ductus Arteriosus
= Failure of duct closure by 1 month after estimated date of delivery (not pathological if pre-term).
Blood flows from the aorta to the pulmonary artery (i.e. a left-to-right shunt)
Presentation of PDA
Normally asymptomatic
Can have heart failure and pulmonary hypertension if duct is large
What type of murmur occurs with PDA?
A continuous, “machinery-like” murmur
Patent Ductus Arteriosus - Investigations
Echo – shows patent duct
CXR and ECG – usually normal
Patent Ductus Arteriosus - Management
Ibuprofen
Surgical tying
Closure with coil/occlusion device
What is aortic Stenosis?
What can it be associated with?
= Narrowed/deformed aortic valve
Can be associated with bicuspid aortic valve, Turner’s Syndrome
When does aortic stenosis normally present?
If Critical – shortly after birth with collapse
If Mild – chest pain on exercise
Presentation of aortic stenosis
Inadequate cardiac output leads to shock presentation:
- Globally poor peripheral pulses
- Tachypnoea
- Mottled/grey appearance
Aortic stenosis - on examination
loud ejection systolic murmur,
Right sternal edge (2nd ICS) radiates to the carotid arteries
Aortic stenosis - Investigations
ECG – left axis deviation, left ventricular hypertrophy
What is pulmonary stenosis?
What can it be associated with?
= Narrowed/deformed pulmonary valve.
Can be associated with Noonan’s Syndrome and William’s syndrome
Pulmonary stenosis - on examination
Murmur – ejection systolic murmur at left sternal edge
RV heave
Pulmonary stenosis - Investigations
ECG – RV hypertrophy
What is coarctation of the aorta?
What can it be associated with?
= narrowing of the aorta,
usually distal to the branches supplying the upper limbs
Can be associated with bicuspid aortic valve and Turner’s syndrome
How does coarctation of the aorta present?
Affects lower limbs, not upper limbs – Absent femoral pulses
Lack of blood flow to the rest of the body => renal failure/gut ischaemia
Can cause back up of flow into LV, eventually causing cardiac failure
Coarctation - on examination
ejection systolic murmur, heard between shoulder blades
Coarctation - management
Resuscitation
Cardiac catheterisation – balloon or stent
What is transposition of the great arteries?
Aorta connected to the RV, and pulmonary artery connected to the LV.
=> Incompatible with life, unless blood can mix.
There will be CYANOSIS when ductus arteriosus closes (around day 2)
transposition of the great arteries - on examination
Cyanosis without tachypnoea.
One loud, single 2nd heart sound.
May be a murmur if another defect is present, but often no murmur.
transposition of the great arteries - Investigations
Echo – visualise abnormalities
ECG – usually normal
CXR – “egg on a side” outline of heart, increased pulmonary markings
transposition of the great arteries - Management
Maintain duct patency – prostaglandin analogue
Balloon atrial septostomy – create hole in atrial septum to allow blood mixing.
Arterial switch procedure – pulmonary a. and aorta transected and switched, performed <4 weeks.
What are the four cardinal features of Tetralogy of Fallot?
- Large VSD
- Aorta overriding the ventricular septum (receives blood from both ventricles)
- Sub-pulmonary stenosis (= RV outflow obstruction)
- RV hypertrophy (as a result of RV outflow obstruction)
what genetic condition can Tetralogy of Fallot be associated with?
DiGeorge Syndrome
Tetralogy of Fallot - On Examination
CYANOSIS in 1st week
=> Variable – can have pink/blue fallot
Loud, harsh ejection systolic murmur (VSD and PS)
Clubbing (older children)
Tetralogy of Fallot - Investigations
Echo – shows cardinal features
CXR – small, “boot-shaped” heart
ECG – RV hypertrophy
Tetralogy of Fallot - Management
Maintain duct patency
Surgery at 6 months – close VSD, relieve RV outflow obstruction.
Treatment of hyper-cyanotic “TET spells”
- Knees to chest, sedation, pain relief (morphine)
- O2 +/- ventilation
- IV propranolol (to relax RV)
- IV fluids
What are TET SPELLS?
= worsening of right-to-left shunt
During exertion/crying/agitation causing increased pulmonary resistance
Causes cyanotic episodes
If severe = drowsy, seizures, death.
What is hypoplastic left heart and how does it present?
= underdeveloped left heart (including aorta).
Often detected antenatally so symptoms are prevented, but symptoms can be:
- Profound acidosis and CV collapse
- Weakness of all peripheral pulses
Hypoplastic Left Heart - management
Norwood procedure (3-stage surgery)
Cardiac Failure in children - signs and symptoms
What is an important differential to consider?
Signs and symptoms:
- Failure to thrive
- Breathlessness (especially when feeding)
- Sweating when feeding
- Ventricular Heave
- Backlog of pressure – crackles on lungs, big liver
Differential – SEPSIS!
Management of cardiac failure
Diuretics, inotropes, treat cause
Supraventricular Tachycardia - signs/symptoms
= HR 250-300bpm
Signs/Symptoms:
- Dizziness, palpitations, chest pains, SoB
- Tachyarrhythmia (abnormal, fast HR)
- Heart failure (pulmonary oedema, increased RR)
- Hydrops fetalis (abnormal fluid accumulation), causes intrauterine death.
Supraventricular Tachycardia - Investigations
- ECG – 250-300bpm and narrow QRS (P-waves often hidden)
- Echo – to r/o structural problem
Supraventricular Tachycardia - Management
- Acute:
• Circulatory and respiratory support
• Carotid sinus massage/ice pack on face (successful in ~80%)
• IV adenosine (induces AV block)
• Electrical cardioversion with synchronised defib shock. - Maintenance:
• Flecainide or Sotalol
• Radiofrequency ablation/cryoablation
What is myocarditis?
What causes it?
= Inflammation of the myocardium
Usually due to infection, but also drug reaction/ chemicals/ radiation
Common viral causes = parvovirus, influenza, adenovirus, rubella, HIV
Myocarditis - signs/symptoms
Fever/malaise
Non-specific Sx of heart failure: SoB, cough, chest pain, oedema, pallor
Myocarditis - Management
Usually resolves spontaneously
Diuretics, ACEi, Beta blocker (carvedilol)
Severe cases may need heart transplant
What is Subacute Bacterial Endocarditis?
Most common cause in children?
Biggest risk factor in children?
= Slowly developing infection of the endocardium.
Alpha-haemolytic strep is the most common cause in children
Congenital heart defects are a BIG risk factor (especially VSD, PDA, coarctation)
Subacute Bacterial Endocarditis - symptoms
Fever, malaise and a NEW murmur
Also:
- Anaemia/pallor
- Arthritic/arthralgia
Subacute Bacterial Endocarditis - signs
Microscopic haematuria
+/- splinter haemorrhages
+/- Osler’s nodes, Janeway lesions, Roth spots
Subacute Bacterial Endocarditis - Investigations
Blood cultures (before starting Abx)
Echo – visualise vegetations
Bloods – anaemia, increased ESR/CRP
Urine dip – microscopic haematuria.
Subacute Bacterial Endocarditis - Management
Abx
=> high dose IV penicillin + gentamicin for 6 weeks
when is the neonatal period?
<28 days
When is a child considered pre-term?
Born <37 weeks
When is a child considered post-term?
Born >42 weeks
What is considered low birthweight?
<2500g
What is considered very low birthweight?
<1500g
What is considered extremely low birthweight?
<1000g
Respiratory Transition in the newborn
Alveoli will transition from fluid-filled to air-filled in order to survive without the placenta.
- Fluid resorption starts before birth through lymphatics and circulatory system.
- Some fluid is squeezed out during labour.
- Breathing is stimulated by cold/touch/light and loss of placental gas transfer.
Babies take large, deep breaths (crying).
To keep the lungs open, you need to overcome the surface tension in the alveoli (surfactant is needed for this).
Positive end-expiratory Pressure (PEEP)
= the pressure in the lungs (alveolar pressure) above atmospheric pressure, that exists at the end of expiration
Extrinsic/Applied PEEP
applied by a ventilator
= used for most mechanically ventilated patients to prevent end-expiratory alveolar collapse
Intrinsic/Auto PEEP
caused by incomplete exhalation
=> causes air trapping (hyper- inflation).
Develops commonly in hyperventilation, obstructed airway or increased airway resistance
What are causes of respiratory distress in neonates?
Respiratory Distress Syndrome
Meconium aspiration Syndrome
Infection
Pneumothorax
Congenital Causes
Transient tachypnoea of newborn (TTN)
Meconium aspiration Syndrome
Distress causes the baby to inhale meconium, which is toxic to the lungs.
Meconium is present at delivery
RFs - post-term delivery
What are the potential issues associated with prematurity?
Respiratory Distress Syndrome
Chronic lung disease
Retinopathy of prematurity
Intracranial haemorrhage
Long-term neurodisability
Temperature control (hypothermia)
Infection
Hypotension
Patent Ductus Arteriosus
Bradycardia
Metabolic problems (Hypoglycaemia, Hypocalcaemia, Metabolic bone disease of prematurity)
Feeding difficulties
Necrotising Enterocolitis
GORD
why is intracranial haemorrhage a problem in pre-term infants?
The pre-term brain is very susceptible to bleeding
What is early-onset sepsis?
What organisms usually cause it?
Sepsis that starts near the time of delivery
Group B Streptococcus (Strep agalactaie)
E. coli
H. influenzae
Listeria monocytogenes
Group B strep infection of the newborn
= most common cause of neonatal infection (sepsis/meningitis/pneumonia)
Infection is prevented by giving antibiotics >2 hours before delivery
Infection is treated with benzylpenicillin and gentamicin
Investigations in suspected sepsis in a newborn
The “sepsis screen”:
- Blood culture
- Urine – SPA/clean catch
- Lumbar puncture
- CXR
- FBC, CRP
Why would a child need IV maintenance fluids?
if NBM or not taking enough orally
What is a risk with 0.9% saline that is less of a risk with Hartmann’s solution
0.9% saline has increased risk of hyperchloraemia
How do you calculate a child’s fluid deficit ?
Deficit (mL) = % dehydration x bodyweight (kg) x 10
“Bottom shufflers”
replacement for crawling
Child may not have tolerated tummy time therefore less development of arms, neck and back.
what are the developmental red flags?
No responsive smile by 8 weeks
Not achieved good eye contact by 3 months
Not reaching for objects by 5 months
Not sitting unsupported by 9 months
Not walking unaided by 18 months
Not saying single words with meaning by 18 months
No two/three word sentences by 30 months
What are the neurodevelopmental conditions?
- ADHD
- ASD
- Intellectual disability
- Cerebral palsy
- Attachment disorders
- Mood disorders
- Anxiety Disorders
- Impulse control disorders
What is ADHD?
What factors are needed for a diagnosis?
Inattention and hyperactivity/ impulsivity
Occurring <12 years and lasting >6 months
Occurring in 2 settings (e.g. home and school)
Interfering with social, academic or occupational functioning
Not explained by another disorder (e.g. oppositional defiant disorder)
Often also difficulties with emotional regulation and executive function
Epidemiology of ADHD
M>F 4:1 in childhood
50% of children with ADHD will have ADHD as an adult
=> M:F 1:1 in adulthood
Strong genetic component (multiple genes)
What FHx of ADHD increases the risk of a child having it?
1st degree relatives 4-5x more likely to have ADHD
10-fold risk among siblings of individuals with combined type
ADHD - pathophysiology
Linked to dysregulation of dopamine + noradrenaline in the brain
=> Dopamine involved in reward, risk-taking, impulsivity, mood.
=> NA involved in attention, arousal, mood
Pharmacological Rx of ADHD
1st line = methylphenidate (Equasym/Concerta/Ritalin)
=> MOA: blocks dopamine and noradrenaline transporters to increase the concentration within synapse
Taken around breakfast time; covers school hours
Prolonged action preparations available for home symptoms later in the day
What are the side effects of methylphenidate used in ADHD?
How are these prevented/managed?
- Suppression of appetite, causing impaired growth (good breakfast, 3 meals + snacks; monitor weight + height)
- Hypertension (monitor BP)
Non-pharmacological Rx of ADHD
ADHD medication is unlikely to have significant impact on behaviour without parenting support and access to behavioural management advice
What 3 areas are impaired in autistic spectrum disorder?
- Social & emotional interaction
- Imagination and flexibility of thought
- Social communication and language
May also have sensory difficulties (inc. touch, noise, light, smell, movement, food textures)
Autistic Spectrum Disorder - epidemiology
- Incidence – 1 in 100
- M>F 4:1 (but may be under-recognised in girls)
- Strong genetic component
- Can be a component of other conditions (e.g Rett syndrome, Fragile X, tuberous sclerosis, Down Syndrome, William Syndrome and many others)
Autistic Spectrum Disorder - management
No pharmacological Rx for autism itself (though melatonin may help with sleep disturbance)
Management centred around behavioural strategies, parental support and optimising environment to allow development
Intellectual disability
Affects ~1% of population
Variable severities of disability
Characterised by deficits in intellectual functioning (e.g. communication, learning, problem solving) and adaptive behaviour (e.g. social skills, routines, hygiene)
IQ testing to quantify intellectual impairment
Mild <70
Moderate <50
Profound <35
Severe <20
Intellectual disability - management
- Identification of co-existing medical conditions
- Family support
- Behavioural support
- Educational support
Educational, Health and Care Plans
A legal document
Describes a child’s educational, health and social care needs.
Details extra help that will be provided to meet those needs and how that help will support the child to achieve what they want to in their life.
Normal Pubertal Onset in F and M?
Girls – before age 8 is early, after 13 is late
Boys – before age 9 is early, after 14 is late.
How is bone age classically identified?
By an X-ray of the left wrist
Surgical assessment of acute abdominal pain
All patients require a full history and examination.
Girls - include a gynae history and pregnancy test if pubertal.
Boys - requires a testicular examination as it is a source of referred pain.
Management of acute abdominal pain
Most management plans will include analgesia, nil by mouth, IV access, bloods, fluids and imaging if necessary
Idiopathic abdominal pain
accounts for 30-40% of referrals to paediatric surgery,
It is a diagnosis of exclusion and requires careful review
Very common causes of acute abdominal pain
Gastroenteritis Acute appendicitis UTI Constipation Mesenteric Adenitis
Less common causes of acute abdominal pain
Strangulated Hernia Intussusception Pancreatitis Intestinal Obstruction Lower Lobe pneumonia DKA Henoch-schonlein Purpura
Rare causes of acute abdominal pain
Haemophilia Lead poisoning Acute porphyria Sickle-cell anaemia Herpes Zoster
What is the most common reason for acute surgical intervention?
Appendicitis
What is the typical presentation of appendicitis if the appendix is located in RIF, anterior to bowel?
- obvious RIF tenderness, guarding, rebound tenderness.
- In this position the diagnosis is typically easy to make and made early as it is the anterior peritoneum that is inflamed, and the symptoms localised.
What is the typical presentation of appendicitis if the appendix is located in RIF, posterior to bowel?
- Vague deep tenderness, can have guarding, may develop mass or perforation before diagnosis.
- This is a hard diagnosis to make and often delayed in presentation.
- The posterior peritoneum is inflamed and/or psoas muscle (giving the child the desire to limp to alleviate the pain).
- Few anterior abdominal wall signs.
What is the typical presentation of appendicitis if the appendix is located in the pelvis?
- Vague suprapubic tenderness, with no guarding.
- PR exam may illicit tenderness or a mass.
- Possible to have urinary/bowel symptoms due to irritation of these structures.
- Commonly perforated as it is hardest to diagnose and present late.
- Few anterior abdominal wall signs.
Management of suspected appendicitis?
Bloods and IV fluids,
Urine dip,
Good analgesia - Paracetamol and IV morphine if needed.
Consider NG tube,
Consider antibiotics
Contact the relevant on call surgical team.
=> the mainstay of treatment is surgery
What is the average morbidity from appendicitis?
10%
due to post operative collections, prolonged stay, wound infections, adhesional obstruction.
when are most abdominal wall defect discovered?
in antenatal scans
What is gastroschisis?
A congenital defect of the abdominal wall, usually to the right of the umbilical cord insertion.
Abdominal contents herniate into the amniotic sac, usually just involving the small intestine but sometimes also the stomach, colon and ovaries.
There is no covering membrane.
What is a risk factor for gastroschisis?
Any associated conditions?
More commonly seen with younger maternal age
Commonly an isolated anomly however, it may be associated with Arthrogryposis
Gastroschisis - acute management
careful fluid balance, IV antibiotics and placing lower half of body in a protective bag.
=> Prevent temperature and fluid losses as well as reducing infection risk.
What is Exomphalos?
A congenital abnormality in which the contents of the abdomen herniate into the umbilical cord through the umbilical ring.
The viscera, which often includes the liver, is covered by a thin membrane consisting of peritoneum and amnion
Are any conditions associated with exomphalos?
Commonly associated with other abnormalities, therefore examination and investigation for genetic abnormalities may be required.
=> Associations with trisomy 13, 15 and 18 as well as Beckwith Wiedemann syndrome are well documented.
Exomphalos - acute management
- Careful fluid balance
* IV antibiotics.
What is the estimated blood volume of a child?
= 80 mL/kg
What is the estimated weight of a child?
< 9 years = 2 x (age +4)
> 9 years = 3 x age
What might be considered a better fluid bolus in trauma?
10 mL/kg as there is a risk of disturbing a potential clot and exacerbating further bleeding.
Managing blood loss
Blood replacement:
- give type specific blood as a bolus and then reassess to see if more is required.
- When type specific blood isn’t available then O negative blood is adequate.
Before blood products are available then saline 0.9% is a good resuscitation fluid
What is intussusception?
Where does it normally occur?
= a type of bowel obstruction, normally occurs in the ileocaecal region
occurs when one segment of the bowel invaginates into another segment just distal to it, the venous blood flow is restricted, swelling occurs and it becomes stuck. This causes obstruction.
Intussusception - presentation
Pain (80-90%):
- Often colicky in nature
Vomiting (90%):
- Will often progress to becoming bile stained.
Abdominal mass (70%) - Sausage shaped mass in RUQ
Lethargy/hypotonia (70%)
- a non-specific symptom.
Shock
Altered Stool (55%): - “Redcurrant jelly” stools (a late sign)
What are the 3 “food signs” of intussusception?
Sausage-shaped mass in RUQ
Donut sign on USS
Redcurrent jelly stools
Causes of intussuception
Idiopathic, Meckel's diverticulum, Polyps, Peutz-Jegher's, Tumours, Inflamed appendix, Foreign body, Peyer's patch hypertrophy.
Intussuception - management
A-E Assessment – stabilise the child.
Surgical involvement is necessary – air reduction enema +/- laparotomy.
Congenital Diaphragmatic Hernia
when the normal diaphragm process is incomplete and the bowel herniates through and into the thoracic cavity.
This pressure can then stop the lung buds from being able to form into normal lungs (the earlier it occurs, the more impact it has on the developing lung)
When is the diaphragm normally fully formed during foetal development?
by 20 weeks, along with gut and lung formation
Do left or right sided diaphragmatic hernias have a better prognosis?
Left sided have a better prognosis than right sided (due to the solidity of the liver on the right side preventing the development of lung).
Can a congenital diaphragmatic hernia be detected on antenatal scans?
Mostly, yes
Congenital diaphragmatic hernia - management
Early recognition
intubation without bag and mask ventilation (to not inflate the stomach) and to watch and wait for the first 48 hours.
If the child is stable enough after this period of time then they will have the defect repaired surgically through either a lateral thoracotomy of through an abdominal approach.
Oesophageal Atresia / TOF
= incorrect development of the oesophagus so that the lumen is no longer patent.
As part of this anomaly the oesophagus can make an incorrect attachment to the trachea and create a tracheo-oesophageal fistula.
Can oesophageal atresia / TOF be identified antenatally?
Less well identified antenatally
often suspected when a newborn child either wont feed, vomits, has lots of salivary secretions and/or respiratory distress
Management of oesophageal atresia / TOF
Surgical intervention is performed to reconnect the two ends of the oesophagus and allow feeding to commence,
However when a child is unstable the most pressing issue is to disconnect the fistula.
=> Both procedures are typically performed through a right lateral thoracotomy.
Common causes of Neonatal Bowel Obstruction
Hirschsprung’s Disease
Necrotising enterocolitis
Less common causes of Neonatal Bowel Obstruction
Small bowel atresia Imperforate anus Duodenal atresia/stenosis Malrotation with volvulus Meconium Ileus
Duodenal atresia
= narrowing of duodenum
Can have different types ranging from a narrowed lumen to several discrete atretic segments with separated blood supply.
bile stained vomit in duodenal atresia
If the atresia occurs prior to the midpoint of the second part of the duodenum then the vomiting won’t be bile stained.
=> This can sometimes delay the diagnosis by several days and result in a very sick child.
Duodenal atresia - management
- resuscitate the child
2. intervene to remove the atretic segment and try and restore bowel continuity
Small Bowel Atresia
= narrowing of small bowel
This can be caused by thrombo-embolus, volvulus or intussusception
Small Bowel Atresia - management
and outcome?
- resuscitate the child
- intervene to remove the atretic segment and try and restore bowel continuity.
=> Sometimes this isn’t possible and a stoma is formed.
If the child loses a significant portion of bowel then they may never be able to absorb enough nutrients and have a life dependant on total parenteral nutrition
what is necrotising enterocolitis?
Inflammation and necrosis of intestinal tissue
More common in premature babies
Results from immature guts not being able to stop translocation of gut flora.
Can cause sudden and dramatic deterioration and death
Necrotising enterocolitis - management
Early recognition => triple antibiotic therapy and NBM
Surgical intervention may be required to remove non-functional bowel and restore continuity or create a stoma.
what is Hirschsprung’s disease?
Caused by defective nerve growth into the myenteric plexi of the bowel.
It can effect a small section of the bowel or the whole of the digestive tract.
=> the extent of the disease has a direct effect on severity of symptoms and time of diagnosis
How does Hirschsprung’s disease present?
How is it diagnosed and managed?
delayed passage of meconium and episodes of enterocolitis.
Dx is made via a rectal biopsy.
Mx - often requires removal of the non-functional bowel and to restore continuity prior to potty training age
Meconium ileus
born with very thick meconium and are unable to pass it
Commonly the child will pass the meconium (sometimes requiring a washout) and the symptoms will resolve.
One must think about the possibility of cystic fibrosis as a cause of thickened meconium and consider testing for it.
Where can testicular pain be referred to?
the abdomen
Testicular Torsion
Occlusion of the testicular blood vessels will affect the viability of the testis unless prompt action is taken.
It is more frequently seen in the left testis
Torted Hydatid of Morgagni
A small embryological remnant at the upper pole of the testis.
Torsion of the hydatid is of no consequence in itself except that it presents a similar picture to torsion of the testis.
The pain is usually less severe and of a longer duration than a torted testis.
Occasionally the torted hydatid may be palpable or visible as a ‘blue dot’ in the scrotum.
If in doubt, then one must explore surgically.
Torted Epididymal Cyst
This is a smooth, small fluid filled swelling that slowly develops in the epididymis.
They are often painless, but the affected testis sometimes ache or feel heavy.
It is not clear what causes cyst development, but they tend to be more common in middle aged men.
Epididymo-Orchitis
Inflammation of the epididymis and/or testis.
It is usually due to infection, most commonly from a urinary tract infection or a sexually transmitted infection.
A course of antibiotics will usually clear the infection. Most people make a full recovery without complication.
Idiopathic Scrotal Oedema
A self-limiting condition characterised by marked oedema +/- erythema.
Important to recognise to prevent unnecessary surgical exploration.
Most common under the age of 10.
Unknown aetiology.
Tends to resolve in 3 - 5 days.
Reassurance and analgesia are the mainstays of treatment
Trend of eGFR in children
Low in newborns
Rises rapidly in 1-2 years.
Trend of plasma creatinine in children
Increases throughout childhood with height and muscle
DMSA scan
Static scan of renal cortex
Shows functional defects (e.g. scars), can help to give differential function between the two kidneys.
!! Can give false positives if done within 3 months of UTI.
What are congenital abnormalities of the kidneys?
- Renal Agenesis
- Multicystic Dysplastic Kidney (MCDK)
- Polycystic Kidney Disease (PKD)
- Horseshoe/Pelvic Kidney
- Duplex Kidney
- Posterior Urethral Valves
What is bilateral renal agenesis?
What does this lead to?
= absence of both kidneys
Results in oligohydramnios, due to no foetal urine.
Complications: FATAL potter syndrome.
What is Potter Syndrome?
= physical characteristics that can occur due to oligohydramnios
- distinctive facial features
- skeletal abnormalities
- lung hypoplasia
What is Multicystic Dysplastic Kidney (MCDK)?
What are the complications and management?
Caused by failed union of ureteric bud and renal mesenchyme.
Results in non-functioning kidney with variably sized fluid-filled cysts and narrow ureter.
Complications: Potter syndrome if bilateral.
Management: often no Tx needed, sometimes nephrectomy if remain large.
What is Polycystic Kidney Disease (PKD)?
How is it inherited?
What are the complications?
Always bilateral, but some/normal renal function is maintained.
Results in enlarged kidneys with separate, discrete cysts.
Either autosomal dominant or autosomal recessive.
Complications – HTN, haematuria, renal failure.
What is Horseshoe Kidney?
What are the complications?
Lower poles of the kidney are fused at the midline.
Complications – increased risk of obstruction/infection
what is Duplex Kidney?
what are the complications of this?
Either 2 renal pelvises or 2 complete ureters for 1 kidney
Complications – reflux in lower ureter, ectopic drainage/prolapse of upper ureter
What are Posterior Urethral Valves?
What are the complications?
How is this managed?
Abnormal flaps of tissue/membranes grown in the urethra, obstructing drainage from the bladder.
Complications:
- Hydronephrosis
- Small, dysplastic, non-functioning kidney
- Reduced amniotic fluid leading to Potter Syndrome
Mx: cystoscopic ablation of valves
What is the most common cause of bladder outlet obstruction in male newborns?
Posterior urethral valves
How might UTI present in an infant?
NON-SPECIFIC
Fever Vomiting Lethargic/irritable Poor feeding/FTT Jaundice Sepsis Offensive urine
How might UTI present in a child?
Fever Abdo/loin pain Frequency/accidents Dysuria/haematuria Lethargic Vomiting/anorexia Offensive urine
Pyelonephritis/upper UTI in children
Fever >38o
+ bacteriuria
+/- loin pain
Cystitis/lower UTI in children
bacteriuria WITHOUT systemic Sx
“Atypical” UTIs in children
- Severely ill/sepsis
- Poor urine flow
- Abdo/bladder mass
- No Tx response within 48h
- Increased creatinine
- Non-E.coli organism
- FHx of urinary tract abnormality
UTI - important points to gather from Hx?
- Exact symptoms
- Antenatal scan results
- What is the urinary stream like?
- Voiding history in general
- Bowel habit
- Drinking habits
- Previous episodes?
UTI - important points to gather from examination?
- Appears well/unwell?
- Fever?
- Any spinal lesion/ lower limb neurology?
- Any palpable bladder or kidneys?
- Is blood pressure normal?
Urine dip specificity/sensitivity for UTI
Nitrites = specific (+ve result = likely UTI)
Leucocytes = sensitive (-ve result = unlikely UTI, but +ve result may be other cause [e.g. other febrile illness or balanitis/vulvovaginitis])
When is urine MC&S required in children with ?UTI ?
ALWAYS required unless nitrites AND leucocytes are negative on urine dip
UTI - when are further investigations required?
Only if recurrent/atypical UTIs
USS – shows structural abnormalities, renal defects, obstruction
DMSA – for scarring/VUR/obstruction
UTI - Management
If <3 months – URGENT HOSPITAL ADMISSION
=> IV Abx
If >3 months with upper UTI/pyelonephritis:
=> PO Abx for 7-10 days
If >3 months with lower UTI/cystitis:
=> PO Abx for 3 days
Causes of vesicoureteric reflux
Familial – 30-50% risk if 1st degree relative
Bladder pathology – neuropathic bladder, urethral obstruction, post-UTI
Types of vesicoureteric reflux and their management
Mild – reflux into ureter only
=> usually resolves within the first few years of life
Severe – reflux into kidney
=> prophylactic Abx, surgery
vesicoureteric reflux - investigations
MCUS – shows dilated ureters and direction of flow (diagnostic – shows grade of reflux)
MAG3 – shows direction of flow.
USS – shows abnormalities/obstruction
Complications or presentation of vesicoureteric reflux
Incomplete bladder emptying = risk of UTI
Intrarenal reflux = risk of pyelonephritis
High voiding pressures = transmitted back to kidneys, damaging renal papillae.
What is enuresis?
= involuntary micturition
Primary nocturnal enuresis
= “Bed wetting”
- Common – 10% at 5 years, 5% at 10 years.
- Need to R/o underlying cause
- Mx – encourage child/reward system, etc.
Daytime enuresis
= Lack of bladder control during the day in a child old enough to be continent (3-5 years)
Causes of daytime enuresis
Lack of attention to bladder sensation Detrusor instability Bladder neck weakness Neuropathic bladder UTI Constipation Ectopic ureter
Daytime enuresis - Ix
Neuro exam (gait, sensation, reflexes)
Spinal X-ray
Urine MCS
Bladder USS/urodynamic studies
Daytime enuresis - Mx
Treat underlying cause.
Anti-cholinergics (to decrease bladder contractions)
Star charts, bladder trainings, “damp alarms”, etc.
Secondary/onset Enuresis
= Loss of previously achieved continence.
Causes of Secondary/onset Enuresis?
Emotional upset (most common) UTI Osmotic diuresis (DM, sickle cell, chronic renal failure)
Secondary/onset Enuresis - Ix
Urine dip - ?DM, ?UTI
Urine osmolality
USS renal tract
Nephrotic Syndrome
= Inflamed basement membrane allows passage of proteins into nephron.
- Heavy proteinuria (>200mg/day)
- Hypoalbuminaemia (<25g/L)
- Oedema – periorbital, legs, scrotal/vaginal
Can be either Steroid-sensitive or Steroid-resistant (rare)
Cause of nephrotic syndrome?
The cause is unknown, but may be 2o to systemic disease (e.g. HSP, SLE, infections, etc)
Clinical features of nephrotic syndrome
- Periorbital oedema – especially on waking
- Leg, ankle, scrotal/vulval oedema
- Ascites
- Breathless (due to pulmonary oedema)
- Frothy urine (proteinuria)
Nephrotic Syndrome - investigations
- Urine dip – protein
- FBC, ESR/CRP
- U&Es, creatinine, albumin
- Urine MCS
- Complement levels
- Throat swab/anti-strep
- Hep B & C Screen
- Malaria screen
Management of steroid-sensitive nephrotic syndrome
Corticosteroids (8 weeks PO prednisolone)
• Tx resistant cases need renal biopsy
• Frequent relapses need high maintenance dose steroids
Fluid balance
Abx Prophylaxis (loss of Ig leads them susceptible to infection)
Refer to specialist if atypical features
Management of steroid-resistant nephrotic syndrome
Fluid Balance
• Restrict intake of water and salt
• Diuretics, ACEI, NSAIDs
Haematuria - glomerular
Brown Urine, deformed RBCs, protein
CAUSES:
- Acute/chronic glomerulonephritis
- IgA nephropathy
- Familial nephritis
- Goodpasture’s Syndrome (anti-basement membrane)
Haematuria - non-glomerular
Red urine, no protein
CAUSES: Infection Trauma (to genitals/urinary tract/kindeys) Stones Tumours Renal vein thrombosis Sickle cell disease Bleeding disorders
Haematuria - investigations
For all patients with haematuria:
- Urine dip & MCS
- FBC, ESR/CRP, platelets, clotting screen
- Sickle cell screen
- U&Es, creatinine, calcium, phosphate, albumin
- USS KUB
For suspected glomerular haematuria:
- Complement levels (often low)
- Anti-DNA antibodies (present in vasculitis)
- Throat swab + Antistreptolysin O/ Anti-DNAse B
- Hep B/C Screen
What is Nephritic Syndrome?
What are the clinical features?
Inflammation causes increased glomerular cellularity, which restricts blood flow and decreases filtration.
- Haematuria (>10 red cell casts)
- Oliguria (<0.5-1 mL/kg/hour)
- Proteinuria (>3.0g/day)
Clinical features:
- Oedema (especially periorbital)
- HTN, causing seizures.
Causes of Nephritic Syndrome
Post-infection (often streptococcal) Vasculitis (HSP, SLE, Wegener granulomatosis) IgA nephropathy Membranoproliferative glomerulonephritis Goodpasture Syndrome
Nephritic Syndrome - management
Maintain fluid and electrolyte balance
Treat infection if present
If rapid decrease in renal function – renal biopsy, immunosuppression, plasma exchange.
Post-infective Nephritis
Occurs 7-21 days after a sore throat or skin infection
Low complement, raised ASO/Anti-DNAse B
Henoch-Shonlein Purpura - pathophysiology
= Increased circulating IgA and IgG form complexes that deposit in organs (e.g. kidneys, skin, joints)
Henoch-Shonlein Purpura - Clinical Features
- Palpable purpuric rash – symmetrical over buttocks and extensor surfaces/ankles
- Arthralgia and periarticular oedema
- Colicky abdominal pain
- Glomerulonephritis – micro/macroscopic haematuria
- +/- fever and malaise
Henoch-Shonlein Purpura - risk factors
- 3-10 years
- M>F (2:1)
- Winter
- Preceding URTI
Henoch-Shonlein Purpura - Management:
- Normally self-resolved in 6 weeks
- Analgesia
- Corticosteroids – only if severe gut/joint involvement
- Follow-up for 1 year if renal involvement to ensure no CKD
IgA Nephropathy
“Berger’s Disease”
Similar pathology to HSP (IgA vasculitis), but ONLY affects the kidneys.
Glomerulonephritis
= Group of diseases causing immune-mediated inflammation of the glomerulus (increased permeability)
Causes nephrotic/nephritic syndrome
SLE - cause, RFs, Sx
involves dsDNA autoantibodies, decreased complement
Risk factors – adolescent girls/young women, Asian/afro-Caribbean
Symptoms - haematuria and proteinuria, malar rash, malaise, arthralgia
What is AKI?
What are the causes?
= a sudden, potentially reversible drop in renal function.
= Oliguria <0.5 mL/kg
PRE-RENAL
=> hypovolaemia, circulatory failure
RENAL
=> vascular/tubular/glomerular/interstitial
POST-RENAL
=> congenital/acquired obstruction
AKI - management
- Correct fluid and electrolyte balance / any metabolic acidosis
- TREAT CAUSE:
- Pre-renal - Urgent IV fluids and circulatory support
- Renal - depends on cause
- Post-renal - urine drainage
AKI - indications for dialysis
- Failed conservative Mx
- Hyperkalaemia or hypo/hypernatraemia
- Severe acidosis
- Pulmonary HTN/oedema
- Multi-system failure
What is Haemolytic uraemic syndrome (HUS)?
A triad of:
- Renal Failure
- Thrombocytopaenia
- Microangiopathic haemolytic anaemia (damaged RBCs due to small vessel occlusion)
Typical vs. non-typical Haemolytic uraemic syndrome
95% “typical” (diarrhoeal) – good prognosis
5% “atypical” (non-diarrhoeal) – poor prognosis
Pathogenesis of Haemolytic uraemic syndrome
Secondary to gastroenteric infection (diarrhoeal prodrome) with verocytotoxin-producing E. coli 0157:H7
Toxin causes intravascular thrombogenesis in renal endothelial cells
Clotting cascade becomes activated.
Platelets are consumed and haemolytic anaemia occurs.
Haemolytic uraemic syndrome - investigations
- FBC – low Hb, low platelets, fragmented blood film
- U&Es
- Stool culture
Haemolytic uraemic syndrome - management
- Supportive – manage fluid balance
- Dialysis and plasma exchange
- Follow-up – for persistent proteinuria, HTN, progressive CKD
CKD in children
CKD = progressive loss of renal function
Very rare in children (~10 in 1 million)!
Causes of CKD in children
- Structural malformation
- Glomerulonephritis
- Hereditary neuropathies
- Systemic diseases
- Unknown
Clinical features of CKD in children
- Anorexia, lethargy
- Polydipsia & polyuria
- Hypertension
- Bone deformities
- FTT, poor/delayed growth (despite high GH levels)
- Anaemia (unexplained, normocytic)
CKD - management
Management with specialist paediatric nephrologist and MDT
Aim = to prevent metabolic complications and allow normal growth & development.
- Diet – supplements, ?NG tube/gastrostomy
- Prevent renal osteodystrophy – calcium and phosphate restriction, vitD supplements
- Fluid and electrolyte balance
- Anaemia – recombinant EPO
- Hormone abnormalities – recombinant human GH.
Dialysis and transplantation for end-stage CKD.
Ideally child gets transplant before dialysis is needed.
Normal RR, HR, SBP in neonates <28 days
RR - 50-60
HR - 110-160
SBP - 50-70
Normal RR, HR, SBP in infants <1 year
RR - 30-40
HR - 110-160
SBP - 70-90
Normal RR, HR, SBP in children <5 years
RR - 25-35
HR - 95-140
SBP - 80-100
Normal RR, HR, SBP in children >12 years
RR - 20-25
HR - 80-120
SBP - 90-110
Normal RR, HR, SBP in children >12 years
RR - Adult
HR - Adult
SBP - 100-120
Paediatric A-E Assessment
- General condition
- Airway
- Breathing
- Circulation
- Disability
- Exposure/ENT
- Temperature
Need to assess systems for:
- Effort
- Efficacy
- Effects on other systems
A-E Assessment - airway and breathing
- Effort – RR, WOB, accessory muscles, recessions, added sounds, respiratory distress
- Efficacy – talking, air entry, SaO2 (>92%)
- Effects – skin colour, conscious level
Mx - Open and maintain airway, 5 initial rescue breaths, 100% high flow O2, Anaesthetist involvement for intubation
A-E Assessment - circulation
- Heart – rate, rhythm, pulse
- Blood pressure – hypotension (late sign)
- Capillary refill (<2 seconds)
- Peripheral temperature, colour
Mx - Chest compressions if needed, IV access, bloods,, catheterise, consider inotropes
A-E Assessment - disability
- Level of consciousness (AVPU / GCS)
- Pupils – size, reactivity
- Posture and tone
- Blood glucose!
A-E Assessment - exposure/ENT
- Rash, injuries, bruises
- Pain
- ENT exam
- Temperature
Causes of shock
Hypovolaemic
=> Bleeds, burns, fever, V&D, urinary losses
Distributive
=> Sepsis, intestinal obstruction
Obstructive
=> Cardiac tamponade, PE, tension PTX
Cardiogenic (rare)
=> Myocarditis, congenital heart disease)
Clinical signs of shock
Early: • Tachypnoea, tachycardia • Cap refill >2s • Decreased skin turgor, sunken eyes/fontanelles • Mottled, pale, cold skin • Oliguria (<0.5 – 1 mL/kg/hour)
Late:
• Hypotension, bradycardia
• Metabolic acidosis
• Depressed cerebral state
Shock - management
- FLUID RESUSCITATION = priority
- 0.9% saline bolus (20 mL/kg)
- 2nd bolus if necessary - If no improvement, then involve PICU
Septic Shock
Features of shock, plus:
- Fever, lethargy
- Poor feeding
- +/- purpuric rash (meningococcal sepsis)
Septic Shock - management
- Fluid resuscitation
- IV Abx ASAP (Ideally after cultures)
Keep reassessing, further support if needed
what is Anaphylaxis?
What are the causes?
= life-threatening hypersensitivity reaction (IgE) with rapid onset airway and circulatory problems.
Food allergy (85%), Insect stings, Drugs, Latex
Features of anaphylaxis
Difficulty breathing/swallowing Stridor +/- wheeze Swollen face/tongue Urticaria Pale, clammy
SHOCK may develop
What are some differentials of anaphylaxis?
DDx – asthma, panic attack, septic shock
Anaphylaxis - management
- IM ADRENALINE 1:1000 – repeat in 5 mins if no improvement.
=> Adult and child >12 years = 0.5 mL
=> Child 6-12 years = 0.3 mL
=> Child <6 years = 0.15 mL - A-E assessment
- Steroids and Antihistamines
=> Hydrocortisone and Chlorpheniramine - Monitor - pulse oximetry, ECG, BP
What is the dose of adrenaline used in anaphylaxis ?
IM ADRENALINE 1:1000
Adult and child >12 years = 0.5 mL
Child 6-12 years = 0.3 mL
Child <6 years = 0.15 mL
DKA - clinical features
- Polyuria & Polydipsia
- Weight loss
- Abdominal pain
- Vomiting
- Tachypnoea
- Confusion
DKA - management
- A-E Assessment
=> Severity of dehydration
=> Evidence of acidosis (e.g. hyperventilation/Kussmaul breathing)
=> Assessment of conscious level - Initial investigations
=> Blood gas (pH), blood glucose, ketones, U&Es, ECG - IV fluid resuscitation and ongoing rehydration
=> Estimate dehydration and slowly rehydrate
=> 0.9% saline (10 mL/kg over 1 hour) - Insulin therapy and potassium replacement
=> 0.1 unit/kg/hour of insulin
Why is potassium replacement given alongside insulin therapy in DKA?
Insulin therapy causes a shift in potassium, which can cause hypokalaemia, so KCl given to replace potassium
What is the rate of insulin infusion for DKA?
0.1 unit/kg/hour of insulin
What is there a risk of when correcting fluids/sugar too rapidly?
How would you recognise this?
Risk of CEREBRAL OEDEMA
Sx:
headache, convulsions, abnormal posture, rising BP/falling pulse, poor respiratory effort, irritability/drowsiness, focal neurological signs, falling GCS, papilloedema, falling O2 sats.
How is cerebral oedema managed?
Inform senior immediately
Check blood glucose and r/o hypoglycaemia as a cause of neurological symptoms.
Mx: hypertonic saline/mannitol, reduce IV intake, transfer to PICU
Alcohol poisoning - effects
Hypoglycaemia
Coma
Respiratory Failure
Alcohol poisoning - management
Check blood alcohol levels
Monitor blood glucose
Ventilatory support
Acid/alkali poisoning - effects and management
Inflammation and ulceration of GI tract
Mx - Early endoscopy
Ethylene Glycol (anti-freeze) poisoning - effects
Tachycardia
Metabolic acidosis
Renal failure
Ethylene Glycol (anti-freeze) poisoning - management
Antidote – Fomepizole
Haemodialysis
Paracetamol poisoning - effects
24-48 hours: abdo pain, vomiting
3-5 hours: liver failure
Paracetamol poisoning - management
Measure plasma paracetamol conc.
IV N-acetylcysteine
NSAID poisoning - effects
N&V, drowsiness, blurred vision, tinnitus
Hyperventilation
Acute renal failure
NSAID poisoning - management
Measure plasma conc.
Rapid BM, blood gas, creatinine, FBC, ECG
Supportive Tx (fluids, dialysis, etc.)
There is no antidote!
Iron poisoning - effects
Initial: V&D, haematemesis, melaena, gastric ulcers
Latent period
6 hours later: drowsy, coma, shock, convulsions, liver failure
Iron poisoning - management
Measure serum iron levels
IV Deferoxamine (acts by chelating the iron)
Methadone poisoning - management
Activated charcoal within 1 hour
IV Naloxone
Methadone poisoning - effects
Drowsiness, mitosis, vomiting
Tachypnoea/apnoea leading to respiratory acidosis
TCA poisoning - effects
Tachycardia, arrythmias
Dry mouth, blurred vision
Agitation, confusion, convulsions
Respiratory Depression
TCA poisoning - management
Ventilatory support
IV Sodium bicarbonate (if arrythmia / severe metabolic acidosis)
Diazepam (if convulsions)
General management of overdose/poisoning
- Identify agent and amount taken
- Can activated charcoal be used to decrease absorption?
=> Only if <1 hour
=> Ineffective for iron and pesticides - Investigations:
=> FBC, renal and liver function, ECG, ABG - Administer antidote:
=> If available/toxicity high enough - Supportive Tx:
=> Ventilatory support, IV fluids, etc.
What is Status epilepticus?
Seizure >30 minutes
OR
Successive seizures over 30 minutes with no recovery in between
Status epilepticus - management
- A-E Assessment
- Open and maintain airway
- High flow oxygen
- Glucose to r/o hypoglycaemia
- Confirm it is an epileptic seizure (Hx, features, etc.) - Manage Convulsions
- IV lorazepam (again 5 mins later if no improvement)
- IV phenytoin
- Anaesthetist - intubation and PICU
what is an Apparent Life-Threatening Event?
= a frightening combination of symptoms (most common in <10 weeks).
- Apnoea
- Colour change
- Altered muscle tone
- Choking/gagging
Causes of Apparent Life-Threatening Event
- No cause identified (50%)
- Upper airway obstruction
- Infections (URTI)
- Seizures
- GORD
- Cardiac arrythmia
Apparent Life-Threatening Event - management
- Detailed Hx and examination
- Admission to hospital (basic investigations and overnight monitoring)
- Discharge if normal and no high risk features.
What is sudden infant death syndrome?
What are the risk factors?
= sudden, unexplained death of an infant with no identifiable cause.
RFs:
Infant – age 1-6 months, preterm/LBW, Male
Parents – low income, poor/overcrowded housing, Parental smoking, unsupported single mum, maternal age <20 years.
Environment – co-sleeping, overheated baby, baby sleeping on tummy.
what is the most common cause of death/serious injury in childhood?
road traffic accidents
Complications of head injury
- Hypoxia – airway obstruction/decreased ventilation
- Hypo/hyperglycaemia
- Decreased cerebral perfusion – raised ICP/ decreased BP from bleed
- Haematoma
- Infection – open wound, CSF leak
Head injury - red flags
- LOC >5 mins
- Amnesia >5 mins
- Seizure
- ≥3x vomiting
- GCS <15
- Signs of fracture
How to assess surface area of burn?
Patient’s palm = 1% of body SA
Add 0.5% to each leg with every year >1 year old
Subtract 2% from head with every year >1 year old
Burns/scald - management
- Burns first aid – cold water for 20 minutes and clingfilm
- Analgesia – e.g. IV morphine
- Fluid resuscitation – if shock/>10% SA
- Wound care
Near drowning - management
Mouth-to-mouth resuscitation and CPR
Cover and keep warm
Hospital admission – monitor for resp. distress, pulmonary oedema, development of pneumonia
Choking/Aspiration - management
Unconscious – paediatric BLS
Conscious and ineffective cough – 5 back blows, 5 abdo thrusts (chest thrusts if <1 year)
what is the most common cause of death/serious injury in childhood?
road traffic accidents
Risk factors for infection
- Illness of family members
- Unimmunised/immunodeficient
- Recent travel abroad/contact with animals
Red flags in febrile child
- Fever >38oC and <3 months
- Fever >39oC and 3-6 months
- Pale/mottled/blue
- Cap refill >3 seconds
- Altered consciousness, seizures
- Stiff neck, bulging fontanelle
- Significant respiratory distress
- Bilious vomiting
Management of Febrile Child
- Not seriously ill – at home, clear instructions/safety netting, (+/- PO Abx)
- Significantly ill – further Ix (septic screen) and monitoring/treatment in hospital
- Seriously ill – immediate IV Abx (cefotaxime/ceftriaxone)
Safety netting for febrile child
Come back if: • Poor oral intake • Signs of dehydration • Abnormal movement • Breathing difficulties • Rash • Rigors/seizures.
Septic Screen
Blood cultures
FBC, CRP, VBG
Urine MC&S
Also consider - CXR, LP, antigen screen, U&E, LFT, PCR
Contraindications for Lumbar Puncture
CV shock
Focal neurological signs or seizures
Signs of raised ICP
Thrombocytopaenia
Indications for Lumbar Puncture in febrile child
Febrile and <1 year
Suspected meningitis
Where is a LP performed in children?
Performed at or below the L4 level
Sudden onset purpura in a febrile child
Should be assumed to be meningococcal sepsis
(however, any severe sepsis can cause a non-blanching rash due to DIC).
Causes of meningitis in children
- Viral Meningitis
- 2/3 of cases
- Less severe than bacterial
- Enterovirus, EBV, adenovirus, mumps - Bacterial Meningitis
- 10% mortality, 10% morbidity
- <3 months – GBS, E. coli, Listeria
- 1 month to 6 years – N. meningitidis, S. pneumoniae, H. influenzae
- >6 years – N. meningitidis, S. pneumoniae - TB Meningitis
- Rare in countries with low TB prevalence.
Symptoms of meningitis
FEVER Non-blanching purpura (meningococcal) Neck stiffness, bulging fontanelle Arched back Focal neuro signs, seizures Altered consciousness Signs of shock \+ve Brudzinski sign \+ve Kernig Sign
Positive Brudzinski sign
Flexion of neck causes hip and knee flexion
Positive Kernig Sign
With hips and knees flexed, there is pain extending the knees.
Meningitis presentation in infants
symptoms are often non-specific – e.g. poor feeding, vomiting, irritable, crying.
Complications of meningitis
- Sepsis
- Hearing impairment
- Cranial nerve palsies
- Seizures/epilepsy
- Hydrocephalus
- Cerebral abscess
Investigations in ?meningitis
- Lumbar puncture
- FBC, CRP, U&Es, LFTs, clotting
- Blood glucoses and gases (for pH and lactate)
- Blood, urine, stool, throat swab culture
- Rapid antigen test (on CSF or blood)
- PCR (of blood or CSF)
- If TB suspected – Mantoux, sputum, urine
What is the purpose of a LP in ?meningitis
To confirm Dx, also identify organism and sensitivity.
Normal CSF values
Clear Appearance
WCC <5/mm3
Protein - 0.15-0.4 g/L
Glucose - >50% that of blood level
What is Kawasaki Disease?
A rare disorder involving systemic small-to-medium vessel vasculitis (due to immune hyperactivity).
What should be suspected in children with prolonged fever?
Kawasaki Disease
Symptoms of Kawasaki Disease
Fever ≥38oC for >5 days PLUS 4 of: • Non-purulent conjunctivitis • Red mucous membranes • Red/swollen/peeling skin (cracked lips, strawberry tongue) • Rash • Cervical lymphadenopathy
Infants may not present with all symptoms so must maintain high suspicion if prolonged fever.
Where is the rash normally located in Kawasaki Disease?
usually genital area, lips, palms, or soles of the feet,
Kawasaki Disease - Risk factors
- 6 months – 4 years old
- Asian or Afro-caribbean
- Covid-19
Kawasaki Disease - Investigations
History and Examination
Bloods – raised CRP, ESR, WCC and platelets
Echo – shows coronary aneurysms
What is the most important thing to rule out/identify in Kawasaki Disease?
Coronary Aneurysms
Kawasaki Disease - Initial Management
IV Immunoglobulin within 10 days – reduce risk of aneurysms
Aspirin
=> High dose until fever subsides, then low dose for 6 weeks.
=> Decrease risk of thrombosis
Kawasaki Disease - Management of long-term aneurysms
Long-term warfarin
Kawasaki Disease - Management if recurrence
Monoclonal antibodies/steroids/ciclosporin
What is infectious mononucleosis?
= a syndrome of symptoms maily caused by the host response to EBV.
Symptoms of infectious mononucleosis
• Fever, malaise
• Tonsillopharyngitis
=> Cannot eat/drink
=> Breathing may be compromised.
- Cervical lymphadenopathy
- Hepatosplenomegaly/jaundice
- Petechiae on soft palate
- Maculopapular rash (if <4 years).
infectious mononucleosis - investigations
Blood film – atypical lymphocytes
Monospot test – heterophile antibodies (may be negative in young children)
EBV antibodies – IgM and IgG
infectious mononucleosis - management
= self-resolving in 1-3 months
- Symptomatic relief
- Corticosteroids – if airway compromise
- Abx ONLY if confirmed tonsilitis (but NOT AMOXICILLIN)
What treatment should be avoided in infectious mononucleosis?
AMOXICILLIN - causes rash
How quickly does infectious mononucleosis resolve?
self-resolving in 1-3 months
HIV in children - cause, presentation
Affects ~2 million children (mainly in sub-saharan Africa).
Majority occurs by transmission from mother (transplacental, at birth, breast-feeding).
Presents as opportunistic infections
=> Bacterial, candida, diarrhoea, PCP
Long-term problems of HIV infection in children
Failure to thrive, encephalopathy, malignancy
HIV in children - management
ART – based on clinical status, viral load, CD4 count
=> Infants start ART ASAP
Infection prophylaxis
=> co-trimoxazole for PCP
=> Vaccinations – flu, hep A/B, VZV
Regular follow-up – weight, neurodevelopment, signs of infection, adherence to Tx.
Cause of malaria infection
Caused by plasmodium falciparum parasite, which is transmitted by the female Anopheles mosquito.
Malaria - symptoms
occur ~7-10 days post-infection
- Fever, malaise, myalgia
- V&D, abdo pain
- Jaundice
- Anaemia
- Thrombocytopaenia
What is a very common feature of malaria in children?
Anaemia
Malaria - diagnosis
thick blood film
Malaria - management
Quinine
Malaria - prevention
Insect nets
Insect repellent
Abx prophylaxis
Cause of typhoid infection
Caused by salmonella typhi or paratyphi parasite
Typhoid - symptoms
occur ~7-10 days post-infection
- Worsening fever
- Headaches, malaise, myalgia
- Cough
- Abdo pain
- Anorexia, diarrhoea, constipation
Typhoid - signs
- Rose-coloured spots on trunk
- Splenomegaly
- Bradycardia
Typhoid - complications
- GI perforation
- Myocarditis
- Hepatitis, nephritis
Typhoid - management
Azithromycin or Ceftriaxone
What nutrients are required in children and why?
Protein - growth, repair, enzymes, antibodies
Energy - growth, moving, developing
=> Carbohydrate
=> Fat
Vitamins - metabolism, cell structure, defence
=> Water soluble, needed daily
=> Fat soluble, can be stored
Minerals - blood, bones, enzymes, compete for absorption
Water - metabolism, homeostasis, fluid balance
How much breast milk is needed to meed nutritional requirements of a child?
need 300mL/kg/day of Mature Breast milk
Advantages of breast milk
Ideal nutritional composition Greater bioavailability of nutrients Antibodies Promote gut health Lower rates of NEC in pre-term infants
How is faltering growth defined?
- Weight deviating from usual centile/ falling through 2 centiles
- Weight persistently more than 2 Centiles below height?
Which children are more at risk of faltering growth?
• Premature Infants
- Chronic Lung disease , cardiac problems
- Cleft Palate
- Cystic fibrosis
- Developmental delay
- ADHD
- Cerebral Palsy
- Coeliac Disease
- Cow’s milk protein Allergy
Faltering Growth - assessment
Nutrient intake compared to estimated requirements.
Feeding behaviour and feeding patterns.
Activity.
Faltering Growth - treatment
Dietary Manipulation
- Food fortification (FOOD FIRST)
- Milky drinks
- 2 course meals
Dietary Supplements
Tube Feeding
- NG
- Gastrostomy, PEG, Button, Jejenostomy
When is a jejunostomy used?
Only if need post-pyloric feeding.
what is cow’s milk protein allergy ?
= an immune reaction to the protein in milk
Cow’s milk protein allergy vs lactose intolerance
A food allergy, such as cow’s milk allergy, is an immune reaction to the protein in milk.
A lactose intolerance is caused by the inability to break down lactose (the sugar in milk).
Lactose intolerance tends to be just uncomfortable, while cow’s milk protein allergy can have dangerous symptoms.
Symptoms of cow’s milk protein allergy
Failure to thrive Frequent regurgitation Vomiting, Diarrhoea Refusal to feed Blood in stools
Rash
Respiratory Sx
Symptoms of lactose intolerance
Diarrhoea
Abdominal pain
Reducing substances in stools
Small amounts usually tolerated.
What is coeliac disease?
When gluten is provoking a damaging immunological response in the proximal small intestine mucosa, causing loss of villi.
Coeliac disease - Sx
occur after introduction of wheat to diet
- FTT +/- weight loss/wasted buttocks
- Diarrhoea
- Abdo pain/distension
- Irritability/fatigue
- Anaemia
Coeliac disease - investigations
- Serological testing – IgA transglutaminase, anti-endomysial
- Small intestinal biopsy = diagnostic
Coeliac disease - management
- Gluten free diet for life.
* If diagnosed <2 years, need gluten challenge later on to confirm Dx.
Severe combined immunodeficiency
= A group of rare disorders caused by mutations in different genes involved in the development and function of immune cells.
Infants with SCID appear healthy at birth but are highly susceptible to severe infections.
Primary immunodeficiency
= an intrinsic defect of the immune system.
Often X-linked or autosomal recessive.
Should be suspected in children with Severe, Prolonged, Unusual or Recurrent infections (SPUR)
Immunodeficiency - investigations
- FBC (including WCC breakdown)
- Immunoglobulins
- Complement proteins
- Specific genetic/molecular tests
Secondary immunodeficiency
= due to another disease or treatment.
E.g.: • Concurrent bacterial/viral illness • HIV • Malignancy • Malnutrition • Immunosuppressive therapy • Splenectomy • Nephrotic Syndrome
More common than primary immunodeficiency.
Immunodeficiency - management
- Antimicrobial prophylaxis
- Prompt treatment of infection (longer Abx course)
- Ig-replacement therapy
- Bone marrow transplant
- Gene therapy (for SCID)
What are the ages of the Primary Series of vaccinations in the UK?
8 weeks old
12 weeks old
16 weeks old
What immunisations are given at 8 weeks?
= 1st set of vaccinations
6 in 1 - 1st dose
MenB - 1st dose
Rotavirus - 1st dose
What immunisations are given at 12 weeks?
- 6-in-1 2nd dose
- Pneumococcal (13 serotypes)
- Rotavirus 2nd dose
What immunisations are given at 16 weeks?
- 6-in-1 3rd dose
* MenB 2nd dose
What immunisations are given at 1 year old?
- Hib and Men C
- Pneumococcal 2nd dose
- MMR 1st dose
- MenB 3rd dose
What immunisations are given yearly from 2 - 10 years old?
Influenza (every Winter)
What immunisations are given at 3 years 4 months old (or soon after)?
- Diphtheria, tetanus, pertussis, polio booster
* MMR 2nd dose
What immunisations are given in secondary school age children?
12-13 years old
• HPV – two doses 6-24 months apart
14 years old (school year 9)
• Tetanus, diphtheria, polio booster
• Men ACWY
What vaccines are offered to pregnant women and when?
- Influenza (during flu season, at any stage of pregnancy)
* Pertussis (from 16 weeks gestation)
Vaccines for Babies born to HepB +ve mother
HepB vaccine at birth, four weeks, 12 weeks
Which children are offered vaccines for TB?
Infants born in/with:
- areas of high TB incidence
- parent/grandparent born in area of high TB incidence
Receive BCG vaccine at birth.
Contraindications to Vaccines
Anaphylaxis
- To previous dose
- To a component of vaccine (neomycin, polymyxin B)
- Latex allergy
No live vaccines in certain groups
What groups are considered unable to receive live vaccines?
- Pregnancy
- Primary immunodeficiency
- Malignancy and solid tumour treatment
- Bone marrow transplant
- High-dose steroids / immunosuppressant drugs
- HIV
Egg Allergy and immunisation
Yellow fever vaccine is contraindicated in confirmed anaphylaxis to eggs.
Egg-free or low albumin Inactivated influenza vaccines are available – safe to give
MMR can safely be given to most children with egg allergy.
Vaccine hesitancy
= a delay in acceptance OR refusal of vaccines despite availability of vaccination services.
What is an allergy?
= an inappropriate, potentially harmful reaction by the immune system to a harmless stimulus
What is atopy?
personal or familial tendency to become sensitised and produce IgE antibodies in response to ordinary exposure to allergens.
What is an allergen?
= an antigen responsible for producing allergic reactions by inducing IgE antibody formation.
What is urticaria?
= an unexplained raised, itchy rash that appears spontaneously and responds to antihistamines.
Often no obvious cause can be found.
What is the prevalence of allergy in the UK?
~40% of all UK children have an allergic diagnosis
Pathogenesis of allergy
Mostly IgE-mediated
- Allergen sensitisation - B-cells produce IgE specific to the allergen.
- Upon re-exposure of allergen, stimulation of plasma cells causes release of the allergen specific IgE.
=> IgE stimulates mast cells, which degranulate and release histamine
What does a skin-prick test show?
shows the tissue release of histamine in response to allergens
Risk factors for allergy
- Hygiene Hypothesis
- FHx
- ?Caesarean birth/smoking in pregnancy/reduction in breast feeding
- ?In-utero exposure to maternal diet/late weaning to solids
- Childhood obesity
- Air pollution
Hygiene hypothesis
Suggests that the post-natal period of immune response is derailed by extremely clean household environments often found in the developed world.
This means failure to provide the necessary exposure to germs required to “educate” the immune system so it can create a response against infectious organisms.
How do Th1 and Th2 cells work in relation to infection and allergy in developed vs. developing countries?
Th1 cells help to fight infection – they are stimulated by viral/bacterial infection
=> in a developing country, children will have high Th1 cells, which suppresses Th2 cells.
Immunisation and clean environment mean that Th1 cells do not increase, so Th2 cells are not suppressed
=> in developed countries, Th2 cells are higher and this causes more allergies
Airborne allergens
Dust mites
Grass/tree/weed pollen
Pet dander/hair
Mould
Dust mite allergy
Causes perennial allergic rhino-conjunctivitis (present throughout the year).
Management:
=> antihistamines
=> regular hoovering/prevention of dust mites.
Grass/ tree/ weed pollen allergy
Causes seasonal allergic rhino-conjunctivitis (= hay fever)
Management – antihistamines, LTRAs, sometimes immunotherapy (Grasax).
Pet allergy
Dander, hair and saliva may induce an allergic reaction.
Tend to not be life-threatening reactions, and over prolonged exposure can develop tolerance.
In some children, it can trigger asthma
Common food allergens
Infants – cow’s milk, egg, peanut
Older children – peanut, tree nut, fish, shellfish
Non-allergic food hypersensitivity
Experience discomfort after certain food.
=> D&V, abdo pain, failure to thrive
e.g. lactose intolerance
Food allergy
The immune system is specifically involved, and the immune responses can be measured.
Immediate onset of symptoms (10-15 mins after ingestion)
=> Rash, itching, swelling, etc.
=> Severe – wheeze, stridor, abdo pain, shock, collapse.
Responds to antihistamines.
Food allergy - Investigations
- History and examination
- Total and specific IgE antibodies
- Skin-prick test
- Exclusion of food (and careful reintroduction – “food challenge”)
Food allergy - Management
- Avoid food triggers
- Mild reaction = antihistamines
- Severe reaction = IM adrenaline
Food allergy - when should a GP refer to allergy specialist?
- FTT/GI symptoms of food allergy
- No response to single elimination diet
- > 1 systemic reaction
- > 1 severe delayed reaction
- IgE associated food allergy & asthma
- Significant eczema – multiple food allergies suspected
Multi-system nature of allergy
- Respiratory symptoms – asthma, hoarseness
- Skin/mucous membrane symptoms – urticaria, angio-oedema, rhinitis, conjunctivitis
- CV symptoms – anaphylactic shock
- GI symptoms – abdominal pain, V&D
Acute Urticaria/angioedema
Acute (<6 weeks)
usually caused by food allergy, drug reactions (especially Abx), infection
Chronic Urticaria/angioedema
lasts >6 weeks
usually non-allergic (cold, heat, water, sunlight, sweating).
what is Tarsal Coalition ?
How can it present?
= lack of segmentation of small bones of feet => rigid and limited motion
presents as recurrent strains in adolescence.
“Normal” flat feet
<4 years old = normal
=> Due to flat medial longitudinal arch
=> Standing on tip-toe/extension of big toe demonstrates arch
“Abnormal” flat feet - presentation, Ix and Mx
Often painful, stiff and no arch on tip-toeing
Ix = X-ray, MRI/CT
Mx = specialised footwear/arch support, surgery for tarsal coalition.
DDx for flat feet
Achilles contracture,
tarsal coalition,
idiopathic juvenile arthritis,
infection.
Forefoot adduction
= “in-toeing”
Usually resolves by age 5.
Causes:
1. Metatarsus varus = highly mobile foot causes adduction deformity.
- Medial tibial torsion = lack of lateral rotation of tibia.
- Anteverted femoral neck = at hip => twisted forward more than normal.
What is Developmental Dysplasia of the Hip ?
Why does it occur?
= a spectrum from dysplasia of the joint, to subluxation (partial dislocation) to frank dislocation.
Occurs due to shallow acetabulum.
What conditions are often associated with DDH?
Talipes equinovarus
Torticollis
Risk factors for DDH
- Female
- Breech
- FHx
- 1st born
- Oligohydramnios
When is DDH most often identified?
At the Newborn examination / 6-8 week post-natal check
DDH - Diagnosis
- Newborn examination / 6-8 week post-natal check - identifies most cases
=> Barlow and Ortolani test
=> If suspected or high-risk, refer to orthopaedics for USS of hip. - Later presentation with abnormal limp/gait
=> +/- shortened leg (Galeazzi’s sign) or limited abduction
=> +/- asymmetrical skin folds
=> needs X-ray to confirm diagnosis
Barlow and Ortolani tests
Barlow = posterior dislocation out of acetabulum Ortolani = abductive relocation into acetabulum
After 2-3 months of age, the Ortolani test and Barlow manoeuvres are less sensitive
How can and degree of hip instability be described?
- Dislocated and reducible (+ve Ortolani)
- Dislocated and irreducible (-ve Ortolani)
- Dislocatable (+ve Barlow)
- Subluxed (a hip with mild instability or laxity with a -ve Barlow manoeuvre)
DDH - management
<6 months – Pavlik Harness
=> Maintains hip flexion and abduction until 12-18 months old
=> Monitor progress with USS/X-ray
> 6 months or Tx failure – surgery (open reduction and 3 months in a cast).
What is Structural Scoliosis?
What are the causes?
= lateral curvature of the spine.
- Idiopathic (85%) – most often starts in girls at pubertal growth spurt.
- Congenital – spinal defect (e.g. VACTERL, spina bifida)
- Secondary – to cerebral palsy, muscular dystrophy, neurofibromatosis, Marfan’s, IJA
What is the most common cause of scoliosis?
idiopathic
Scoliosis - investigations
- Examination of back
=> Irregular skin creases, different shoulder heights
=> If scoliosis disappears on leaning forwards = postural scoliosis - X-ray if more severe
=> To assess and monitor progression.
Scoliosis - management
- Mild – asymptomatic, resolves spontaneously.
- Severe – bracing
- Very severe or associated complication (e.g. chest deformity causing cardiorespiratory failure) – surgery.
what is Torticollis?
“wry neck”
= tilted head/neck position towards the affected muscle.
Causes of torticollis?
ACUTE
Sleep in unusual position
Neck sprain
CHRONIC SCM tumour (most common cause in infants) Muscle spasm ENT infection Spinal tumour Cervical spine arthritis
SCM tumour
benign, mobile, non-tender nodule
resolves in 2-6 months.
Management of torticollis
= treat underlying cause!
Analgesia, heat packs, passive stretching. Muscle relaxants (e.g. diazepam)
What is a skeletal dysplasia?
= genetic mutation (inherited or de novo) causing generalised developmental disorder of bone.
Types of skeletal dysplasia
- Achondroplasia (Dwarfism)
- Thanatophoric Dysplasia
=> Causes stillbirth of infant with large head, short limbs, small chest. - Cleidocranial Dysostosis:
=> Absence of part/all clavicles
=> Short stature - Osteogenesis Imperfecta (brittle bone disease)
What causes Osteogenesis Imperfecta ?
= disorders of collagen metabolism, causing bone fragility
Osteogenesis Imperfecta - symptoms
bowing, frequent fractures
Osteogenesis Imperfecta - management
bisphosphonates,
splinting of fractures
Type 1 vs Type 2 Osteogenesis Imperfecta
Type 1 = most common
=> blue sclera, hearing loss
Type 2
Multiple fractures before birth => often stillborn
Causes of bone/joint infection
haematogenous spread,
spread from adjacent soft-tissue infection,
penetrating wound
bone/joint infection - risk factors
immunosuppressed, DM, extremes of age, recent operation/injection, wounds
bone/joint infection - complications
bone/cartilage necrosis,
chronic infection,
limb deformity,
amyloidosis
What is osteomyelitis?
= infection of the long bones.
Osteomyelitis - Sx
PAIN Immobile limb Fever Swelling, tender, warmth Erythema over bone
15% have co-existing septic arthritis
Osteomyelitis - Ix
Bloods – increased WCC, CRP, ESR
Blood cultures
X-ray – radiolucent area with hypodense border (due to new bone formation)
USS – ?co-existent joint effusion
MRI – subperiosteal pus
Bone scintigraphy – increased radionucleotide uptake
Osteomyelitis - Mx
- IMMEDIATE IV ABX
=> Minimum 4 weeks.
=> IV initially then switch to PO - Supportive
=> Analgesia, bedrest, immobilise/splint then physio - Surgical
=> Decompression/aspiration or subperiosteal space if abscess or Tx failure.
What is septic arthritis?
= infection of the joint space
Septic arthritis - Sx
PAIN (on passive movement) Immobile limb Fever Swelling, tender, warmth Erythema over joint \+/- joint effusion \+/- limp
Septic arthritis - Ix
Bloods – increased WCC, CRP, ESR
Blood cultures
JOINT ASPIRATION & CULUTRE = DIAGNOSITIC
X-ray – normal
USS – shows joint effusion
MRI/Bone scintigraphy – show any co-existent osteomyelitis
Septic arthritis - Mx
- IMMEDIATE ABX
=> Minimum 2 weeks.
=> IV at first then switch to PO - Supportive
=> Analgesia, bedrest, immobilise/splint then physio - Joint Drainage and Washout (lavage)
=> If deep-seated or Tx failure.
Limping Child - acute causes
Infection (OM/SA) Transient synovitis (irritable hip) Trauma/overuse injury Malignancy Slipped capital femoral epiphysis Reactive arthritis/JIA
Limping Child - chronic causes
Congenital problem (DDH, talipes) Tarsal coalition Neuromuscular JIA Perthes Disease Slipped capital femoral epiphysis
Likely Dx of limping child aged 0-2?
DDH
Likely Dx of limping child aged 2-4?
Transient synovitis (irritable hip)
Likely Dx of limping child aged 5-10?
Perthes Disease
Likely Dx of limping child aged 10-15?
Slipped capital femoral epiphysis
What is the #1 cause of hip pain in children?
Transient Synovitis (Irritable Hip)
Transient Synovitis - presentation
Follows/accompanies viral infection.
Symptoms:
- Pain on movement (not at rest)
- Decreased ROM (especially internal rotation)
- Afebrile/not ill
Transient Synovitis - investigations
Important to differentiate from septic arthritis => need bloods, blood cultures, normal X-ray
Transient Synovitis - management
Improves in 1 week => Bed rest and analgesia
Safety net – fever, unwell, non-weight bearing.
(3% develop Perthes’ Disease)
What is Perthes Disease?
Idiopathic interruption of the blood supply to the femoral head,
=> causes avascular necrosis of capital femoral epiphysis, then revascularisation and re-ossification.
Perthes Disease - Sx
- Insidious onset (days)
- Limp or hip/knee pain
Perthes Disease - Ix
- X-ray (AP and frog lateral) – femoral epiphyseal head flattened and fragmented, increased density.
- Bone scan
- MRI
Perthes Disease - Mx
Early/mild – AVOID INTENSIVE EXERCISE, bed rest, traction, analgesia.
Late/severe – plaster/calipers to maintain hip in abduction, femoral/pelvic osteotomy.
Perthes Disease - Prognosis
Poor prognostic factors - >5 years old, >50% epiphysis involved, deformed femoral head
=> Can cause later complication of osteoarthritis
what is Slipped Capital Femoral Epiphysis ?
Postero-inferior displacement of epiphysis
Slipped Capital Femoral Epiphysis - Risk factors
Adolescent males (growth spurt)
Obesity
Hypothyroidism
Hypogonadism
Slipped Capital Femoral Epiphysis - Sx
- Acute (post-trauma) or insidious
- Limp or hip/knee pain – often bilateral
- Restricted abduction and internal rotation of hip
Slipped Capital Femoral Epiphysis - Ix
X-ray (AP and frog-lateral) => lost Klein’s line, widened growth plate.
Klein’s Line
= an arbitrary line drawn along the superior edge of the femoral neck
should normally intersect the lateral aspect of the superior femoral epiphysis
Trethowan sign
when the line of Klein passes above the femoral head.
indicates slipped capital femoral epiphysis
Slipped Capital Femoral Epiphysis - Mx
needs to be treated ASAP to prevent avascular necrosis
Conservative – analgesia, crutches
Surgical – pin fixation in situ.
Common pathogens in bone/joint infections
Staph. Aureus,
streptococcus,
H. influenzae,
TB (rare)
Incomplete Fractures
Common in children due to softer/ more flexible bones – the bones compress/bend rather than break.
Include:
- Greenstick Fractures
- Buckle/Torus Fractures
- Hairline (stress) Fractures
Greenstick Fractures
= partial break in one side causes other side to bend.
Common in mid-shaft forearm and lower leg.
Buckle/Torus Fractures
= compression on one side of the bone causing bulging cortex.
Commonly distal metaphysis of radius
Following FOOSH
Appears as “base of pillar” and often no fracture line seen
Hairline (stress) Fractures
= small “cracks” that do not traverse entire bone.
Usually from overuse/repetitive stress-bearing motions
=>e.g. track runners, gymnasts, dancers.
Complete Fractures
- Communicated Fracture = bone broken into >2 pieces/crushed into fragments.
- Bucket-handle Fracture = fragmentation of corner of metaphysis.
=> Indicates non-accidental injury
Which type of fracture indicates non-accidental injury?
Bucket-handle Fracture
Growth Plate Fractures
Unique to children (common in growth spurt when physes are the weakest).
Typically caused by great force during sports or playground accidents.
Classified by Salter-Harries System
Salter Harris Fracture Type I
Straight across the growth plate.
Tx - Splinting or Casting
Salter Harris Fracture Type II
Into and above growth plate.
Tx - Splinting or Casting
Salter Harris Fracture Type III
Into and lower than growth plate
Tx - Open reduction and Internal Fixation
Salter Harris Fracture Type IV
Through growth plate
Tx - Open reduction and Internal Fixation
Salter Harris Fracture Type V
Erasure of growth plate / Crush
Tx - Surgery
Which Salter Harris type is the most common?
Type II
Which Salter Harris type is the most likely to affect bone growth?
Type V
What is the definition of Juvenile Idiopathic Arthritis?
= persistent joint swelling (>6 weeks) presenting before 16 years old in the absence of infection or other defined cause
How common is Juvenile Idiopathic Arthritis?
affects 1 in 1000
What is the most common subtype of Juvenile Idiopathic Arthritis?
Persistent Oligoarthritis (~50%)
What is Chronic anterior uveitis?
= inflammation of the uvea (middle layer of the eye).
It can cause eye pain and changes to vision.
Monoarthritis
Affects 1 joint
e.g. septic arthritis, gout
Oligarthritis
Affects 4 joints or less
e.g. reactive, psoriatic arthritis
Polyarthritis
Affects more than 4 joints
e.g. rheumatoid, SLE
Symptoms of Juvenile Idiopathic Arthritis
Poor mood/decreased activity are indicators in infants
- Joint gelling – stiffness after rest
- Joint stiffness/pain – in mornings
- Joint swelling – may appear later.
Complications of Juvenile Idiopathic Arthritis
1/3 have active disease into adulthood (may need joint replacements)
- Bone/joint deformities
- Chronic anterior uveitis
- Flexion contractures
- Growth failure
- Osteoporosis
- Amyloidosis – proteinuria and renal failure (rare)
- Side effects of Tx – growth suppression, immunosuppression
What are the subtypes of Juvenile Idiopathic Arthritis?
Persistent Oligoarthritis Extended Oligoarthritis RF -ve Polyarthritis RF +ve polyarthritis Systemic Arthritis Psoriatic Arthritis Enthesitis-related Arthritis Undifferentiated Arthritis
JIA - Persistent Oligoarthritis
Affects max. 4 joints
Can have:
- Chronic anterior uveitis
- Leg length discrepancy
May have Antinuclear Antibody on tests
JIA - Extended Oligoarthritis
> 4 joints
ASSYMETRICAL (large and small joints)
Can have:
- Chronic anterior uveitis
- Asymmetric growth
May have Antinuclear Antibody on tests
JIA - RF -ve or +ve Polyarthritis
SYMMETRICAL
Large and small joints
Marked finger involvement
+/- TMJ or cervical spine
If RF +ve then rheumatoid factor will be present on tests and patient may have rheumatoid nodules
If -ve:
Low grade fever
Chronic anterior uveitis
Late reduced growth
What age group is RF +ve polyarthritis likely to affect?
10-16 years
JIA - Systemic Arthritis
Symptoms and Blood results
Oligo/polyarthritis
Arthralgia/myalgia
Can have:
- Malaise, daily fevers
- Salmon-pink macular rash
- Lymphadenopathy
Bloods:
- Anaemia
- Raised CRP/ESR and platelets
JIA - Psoriatic Arthritis
ASSYMETRICAL
Large and small joints
Dactylitis
Can have:
- Psoriasis
- Chronic anterior uveitis
JIA - Enthesitis-related Arthritis
Affects large joints, mainly
There will be enthesitis (inflammation at tendon/ligament insertion)
JIA - Undifferentiated Arthritis
Overlapping patterns of subtypes
JIA - Management
MDT with rheumatology specialist.
Prevention and monitoring of complications
- NSAIDs – relieve symptoms during flares.
- Steroid injections
- 1st line for oligoarthritis, bridging Tx for polyarthritis - Methotrexate (tablet, liquid, injection weekly)
- 1st line for polyarthritis - Systemic corticosteroids
- Life-saving if severe systemic JIA
- Avoid if can as growth suppression/osteoporosis - Immunotherapy (e.g. anti-TNF)
- If methotrexate resistant
What is 1st line treatment for oligoarthritis?
Steroid injections
What is 1st line treatment for polyarthritis?
Methotrexate
What are side effects of methotrexate?
nausea, liver damage, bone-marrow suppression
What is 1st line treatment for severe systemic JIA?
systemic corticosteroids
What is the definition of reactive arthritis?
= transient (<6 weeks) joint swelling following extra-articular infection.
What infections can precede reactive arthritis?
Dysentery
STI - chlamydia, gonococcus
Viral illness
Other - mycoplasma, Lyme disease, Rheumatic fever
Symptoms of Reactive Arthritis
Reiter’s Syndrome
Dactylitis – swollen “sausage” fingers/toes
+/- mild fever
Reiter’s Syndrome
Consists of:
Joint swelling
Conjunctivitis
Urethritis (dysuria)
Reactive Arthritis - Ix
To rule out other conditions:
- Bloods – normal or mild raise in ESR/CRP
- Rheumatoid factor – negative
- Urine/stool MC&S – bacterial/viral infections
- Joint aspiration and culture – no organisms
- X-ray – normal
Reactive Arthritis - Mx
NSAIDs – reduce inflammation
Steroids – if severe
What are some other causes of Polyarthritis besides JIA?
- Infection – bacterial, viral, reactive.
- IBD – Crohn’s, UC
- Vasculitis – HSP, Kawasaki
- Haematological – haemophilia, Sickle Cell Disease
- Malignancy – leukaemia, neuroblastoma
- Connective Tissue Disorders – SLE, dermatomyositis, polyarteritis nododa
- Other – Cystic fibrosis
Growing Pains
Wake in the night with pain (no daytime Sx)
Often worse after activity
Eased with massage
No abnormal physical signs
Idiopathic pain syndromes
Chronic fatigue Syndrome Myalgic encephalomyelitis Fibromyalgia Diffuse idiopathic pain Localised idiopathic pain
What haematological changes occur at birth?
Location of haematopoesis changes
=> from liver to the bone marrow.
Foetal Hb (HbF) is replaced by adult Hb (HbA)
Hb levels are high in newborns
=> Drops over the first few weeks.
HbF and HbA
HbF = 2alpha and 2gamma – higher oxygen affinity
HbA = 2alpha and 2beta – lower oxygen affinity.
what is Anaemia?
= Hb below the normal range for age.
- Neonate: < 14 g/dL
- 1-12 months: < 10g/dL
- 1-12 years: <11 g/dL
what are the 3 general causes of anaemia?
- Reduced red cell production
- Increased red cell destruction (haemolysis)
- Increased red cell loss (bleeding)
Anaemia - Sx
Anaemia often asymptomatic, Sx normally only present when Hb quite low.
- Fatigue/weakness
- Pallor
- SoB/tachycardia
- Slow feeding, eating soil or chalk
DDx Macrocytic Anaemia
Alcohol and liver disease B12 deficiency Compensatory reticulocytosis (blood loss) Drugs (cytotoxic) Endocrine (hypothyroidism) Folate deficiency
DDx Microcytic Anaemia
Thalassaemia Anaemia of chronic disease Iron deficiency anaemia Lead poisoning Sideroblastic anaemia
Anaemia - Ix
FBC – MCV (size of RBC) and MHC (Hb per RBC)
Iron studies – serum iron and ferritin
Blood film – size, shape, colour
Serum bilirubin
Hb high performance liquid chromatography or Hb electrophoresis
=> Shows amount of each Hb type (HbS, HbA, HbF)
What are causes of reduced RBC production
Iron deficiency anaemia
B12/folate deficiency
RBC Aplasia
What are causes of increased RBC destruction
Intrinsic/extrinsic haemolysis
INTRINSIC - hereditary spherocytosis, G6PD deficiency, thalassaemias, SCD
EXTRINSIC - autoimmune, infection, drugs, burns
What is the #1 cause of anaemia in children and why?
Iron Deficiency Anaemia
Due to high iron requirement of growth
Iron deficiency anaemia - Causes
Inadequate intake
=> Prolonged breastfeeding (>6 months), iron deficient diet
Malabsorption – Coeliac
Blood loss
Iron deficiency anaemia - Diagnosis
FBC – decreased MCV and MHC
Iron studies – decreased serum iron and serum ferritin
Blood film – abnormally shaped, small, pale RBCs
Iron deficiency anaemia - Management
Dietary advice
=> High iron foods
=> VitC helps iron absorption
=> Avoid too much cow’s milk
Oral iron supplements
=> Continue until Hb normal, PLUS 3 months.
NB – if no response to Tx, consider Ix for other causes (especially malabsorption)
What foods are high in iron?
red meat pulses, beans, peas leafy green veg oily fish fortified cereals
How long are iron supplements needed in iron deficiency anaemia?
Taken until Hb returns to normal, PLUS 3 months.
what are B12 and folate needed for ?
B12 = coenzyme needed for folate conversion folate = needed for RBC synthesis
Causes of B12 and Folate Deficiency?
Low dietary intake
Malabsorption – e.g. Crohn’s
Low intrinsic factor – e.g. autoimmune
B12 and Folate Deficiency - diagnosis
FBC – increased MCV (= macrocytic)
Iron and B12 studies – decreased B12, decreased serum folate, decreased cobalamin
B12 and Folate Deficiency - management
Dietary advice
=> B12 – eggs, fortified cereals, dairy
=> Folate – broccoli, peas, brown rice
Oral B12 and folic acid supplements
what is RBC Aplasia?
= failure of RBC synthesis
Causes of RBC aplasia?
Diamond-Black anaemia (rare congenital condition)
Transient erythroblastopaenia (triggered by viral infection)
Parvovirus B19 (ONLY causes RBC aplasia in children with inherited haemolytic anaemia)
RBC aplasia - diagnosis
Decreased Hb
Reduced reticulocytes
Normal bilirubin
Coombs test -ve
Haemolysis - clinical features
- Anaemia
- Hepatosplenomegaly
- Jaundice
Haemolysis - investigations
- FBC – low Hb
- Blood film – increased reticulocytes
- Bilirubin – increased unconjugated bilirubin and increased urinary urobilinogen
- Lactate dehydrogenase – increased LDH
What is the mode of inheritance of sickle cell disease?
autosomal recessive
Pathophysiology of sickle cell disease
Caused by a mutation in beta-globin gene causing abnormal HbS chain rather than HbA
= point mutation of glutamine to valine
Sickle-shaped RBCs have a decreased lifespan and also get stuck and occlude vessels.
Sickle cell disease - risk factors
Black, Afro-Caribbean
Sickle cell disease - types
Sickle Cell Anaemia (HbSS)
HbSC Disease (HbSC)
Sickle beta-thalassamia (HbSA)
Sickle Cell Trait (HbSA) - no symptoms, carrier
Sickle beta-thalassamia (HbSA)
1 HbS + beta-thalassaemia trait causing low HbA
Sickle cell disease - clinical presentation
Moderate anaemia
Jaundice
Infection (increased susceptibility)
Splenomegaly
Painful vaso-occlusive crises
Acute Anaemia
Symptoms of vaso-occlusive crises in sickle cell disease
Hands and feet – dactylitis and swelling
Bones of limbs – avascular necrosis of femoral head
Lungs – acute chest syndrome = EMERGENCY
Penis – priapism
Acute anaemia in sickle cell disease
Sudden drop in Hb +/- abdo pain, hepatosplenomegaly, circulatory collapse.
Triggered by infection, accumulation of sickle-cells in spleen
Long-term problems in sickle cell disease
Short stature and delayed puberty
Stroke and neuro damage
Heart failure and renal dysfunction
Pigment gallstones
Sickle cell disease - diagnosis
- Screening – heel-prick test
- Clinical presentation
- FBC and iron studies
- Blood film – sickle cells
- Hb HPLC – HbS
Sickle cell disease - management
- Infection prophylaxis – vaccines and daily PO penicillin through childhood
- Daily folate supplements (lifelong)
- Decrease risk of VO crises – dress warm, stay hydrated, avoid excessive exercise/stress
- Treat VO crises – PO/IV analgesia, Abx and O2 if needed.
- Hydroxyurea to increase HbF – if recurrent VO crises/acute chest
- BM transplant – only cure
what is the only cure for sickle cell disease?
Bone marrow transplant
Beta-Thalassaemia
= autosomal-recessive disorder of beta-globin production, causing decreased HbA.
- b-thalassaemia major – no HbA = very severe
- b-thalassaemia minor – some HbA or HbF = mild/asymptomatic
Beta-Thalassaemia - prognosis
90% live beyond 40 years if treatment compliant
Prenatal diagnosis for Beta-Thalassaemia
Offered if one/both parents are affected.
if 2 affected parents = ¼ risk child affected
Beta-Thalassaemia - clinical features
Severe anaemia from 3-6 months – transfusion dependent
Jaundice and pallor
Hepatosplenomegaly (if untreated) Characteristic facies (if untreated)
Beta-Thalassaemia - management
- Lifelong monthly blood transfusion
- Iron chelation (prevent Fe overload from transfusions)
- BM transplantation = only cure
What is caused by iron deposition in the…
Heart
Liver
Pancreas
Skin
Heart – cardiomyopathy
Liver – cirrhosis
Pancreas – diabetes
Skin – hyperpigmentation
Alpha-Thalassaemia
= autosomal recessive disorder of alpha-globin production causing decreased HbA.
a-thalassaemia major / Hb Barts hydrops fetalis – deletion of all 4 globin genes
=> very severe (no HbA)
=> leads to death in utero
HbH disease – deletion of 3 a-globin genes
=> Some HbA – mild/moderate anaemia
=> May need transfusions
a-thalassaemia trait – deletion of 1 or 2 a-globin genes
=> asymptomatic (some HbA)
what is the mode of inheritance of Beta-Thalassaemia?
= autosomal-recessive
what is the mode of inheritance of Alpha-Thalassaemia?
= autosomal-recessive
Thalassaemia - investigations
- FBC and iron studies – microcytic, hypochromic anaemia
- Blood film – “target cells” or nucleated RBCs
- Hb HPLC – proportions of HbA, HbF, HbA2
Hereditary Spherocytosis
= autosomal-dominant or de novo mutations for RBC membrane proteins.
Abnormal membrane causes spheroidal-shaped RBCs which are weak and hence destroyed in the spleen.
What is the mode of inheritance of Hereditary Spherocytosis?
autosomal dominant
OR de novo mutation
Hereditary Spherocytosis - clinical presentation
Jaundice – may be intermittent
Mild anaemia
Splenomegaly – due to haemolysis
Gallstones – decreased bilirubin excretion
APLASTIC CRISIS – new RBCs not made fast enough
=> Follows parvovirus B19, lasts 2-4 weeks
Hereditary Spherocytosis - diagnosis
Suspect if FHx
FBC and iron studies – microcytic anaemia
Blood film – microcytic spherical RBCs
What can happen in a patient with Hereditary Spherocytosis following parvovirus B19 infection?
aplastic crisis (RBC aplasia)
Hereditary Spherocytosis - management
Oral folic acid – increased demand as increased RBC synthesis
Tx for aplastic crisis – tranfusions until resolves
Splenectomy – if poor growth/troublesome Sx
=> Will need daily prophylactic ABX afterwards
G6PD Deficiency
= X-linked recessive mutation in G6PD gene – an enzyme involved in preventing oxidative damage to RBCs.
What is the mode of inheritence of G6PD deficiency?
= X-linked recessive
G6PD Deficiency - risk factors
African, Mediterranean, Middle Eastern
G6PD Deficiency - clinical presentation
Asymptomatic between haemolytic episodes
Neonatal jaundice – usually within first 3 days
Acute intravascular haemolysis – fever, pallor, malaise, dark urine
=> Precipitated by infection, certain drugs, fava beans
=> Hb drops <5g/dL within 24-48 hours
G6PD Deficiency - diagnosis
FBC – decreased Hb, increased reticulocytes
Unconjucated BR raised
LDH raised
Blood film – Heinz body inclusions (only seen during haemolytic crisis)
G6PD activity – reduced
Heinz body
= rounded structure protruding from the margin of an erythrocyte or as a small somewhat refractile spot within the cell, they are the result of oxidative damage to erythrocyte haemoglobin.
G6PD Deficiency - management
- Safety net for signs of acute haemolysis
- Advise on foods/drugs to avoid
=> Quinine, sulphonamides, nitrofurantoin, high dose aspirin, fava beans - May need blood transfusion during haemolytic crisis
Bleeding Disorders - History
Age of onset
Bleeding Hx/pattern
- Bleeds with previous surgery/dental work – inherited
- Mucous membranes – platelet disorder/vWD
- Haemarthrosis – haemophilia
Drug Hx - Anticoagulants?
Bleeding Disorders - Ix
FBC and blood film
PT and APTT
Thrombin time
Mixing studies – determine if factor deficient or inhibitor present
D-dimers
Inherited Bleeding disorders
Haemophilia A + B
vWD
Acquired Bleeding disorders
Vitamin K deficiency
Thromcobytopaenia (immune thrombocytopaenia (ITP))
DIC
What is the mode of inheritance of haemophilia?
= X-linked recessive
What is haemophilia?
What factors are affected in Haemophilia A and B?
= X-linked recessive coagulation disorders.
Haemophilia A = factor VIII deficiency (more common)
Haemophilia B = factor IX deficiency
Haemophilia - clinical features
- Mild – bleed after surgery
- Moderate – Bleed after minor trauma
- Severe – spontaneous joint/muscle bleeds
40% of cases present in neonates with intracranial haemorrhage/post-circumcision bleed.
Commonly presents when start to crawl/walk.
Haemophilia - diagnosis
Increased APTT
Low Factor VIII/IX
Haemophilia - management
Avoid NSAIDs and IM injections
For any acute bleeds – IV recombinant factor 8 or 9 (given ASAP, parents taught to administer at home).
For severe disease/before major surgery – regular prophylactic IV factor
For mild disease – desmopressin (antidiuretic that causes secretion of factor VIII and vWF into plasma)
Von Willebrand Disease (vWD)
= autosomal dominant deficiency in von Willebrand factor (vWF).
vWF facilitates platelet adhesion and is a carrier protein for factor VIII preventing its degradation.
What is the mode of inheritance of vWD?
autosomal dominant
vWD - clinical features
- Bruising
- Prolonged bleeding
- Mucosal bleeding – epistaxis, menorrhagia
vWD - diagnosis
Increased APTT
Normal platelets and INR
vWD - management
Avoid NSAIDs and IM injections
Mild – desmopressin
Severe – plasma-derived factor VIII concentrate/vWF
Which coagulation factors need vitamin K?
factors 2, 7, 9, 10
Causes of vitamin K deficiency
Caused by inadequate intake, malabsorption, warfarin.
definition of thrombocytopaenia
= Platelets <150 x10^9 /L
- Mild = 50-150
- Moderate = 20-50
- Severe <20
thrombocytopaenia - clinical features
- Bruising, petechiae, purpura
- Mucosal bleeding
Less common = GI haemorrhage, haematuria, intracranial bleed.
what is the most common cause of thrombocytopaenia in children?
= immune thrombocytopaenia (ITP)
Caused by destruction of circulating platelets by IgG autoantibodies (following viral infection).
=> Onset 1-2 weeks post viral infection
immune thrombocytopaenia (ITP) - investigations
- Careful Hx and examination
- FBC and blood film
- BM examination – to exclude leukaemia/aplastic anaemia
immune thrombocytopaenia (ITP) - management
Benign, self-limiting – resolves in 6-8 weeks
=> If major bleed/persistent minor bleed – oral prednisolone, IV anti-D or IV Ig
=> If life-threatening haemorrhage – platelet transfusion
Chronic ITP – persistently low platelets for >6 months
=> If major bleed/persistent minor bleed – oral prednisolone, IV anti-D or IV Ig
=> If life-threatening haemorrhage – monoclonal antibodies, splenectomy
Avoid contact sports if platelet count is low.
Disseminated Intravascular Coagulation
coagulation pathway activation => diffuse fibrin deposition and consumption of coagulation factors and platelets.
DIC - causes
Severe sepsis
Trauma/burns
Malignancy
Toxins
DIC - Sx
Bruising
Purpura
Haemorrhage
DIC - diagnosis
CLOTTING SCREEN
- Low platelets, fibrinogen
- Raised D-dimer
- Low antithrombin
- Low protein C and S
- Raised APTT and PT
DIC - management
Treat underlying cause
Supportive – e.g. FFP, platelets
What is a seizure?
What types are there?
= a sudden disturbance of neurological function resulting in a change in behaviour.
EPILEPTIC - due to excessive, hyper-synchronous neuronal discharge in the cerebral cortex.
NON-EPILEPTIC - Seizures not involving abnormal electrical activity in the brain
Causes of epileptic seizures
Idiopathic (70-80%)
Secondary
- Cerebral dysgenesis
- Cerebral vascular occlusion
- Cerebral damage (e.g. hypoxia, infection)
- Cerebral tumour
Neurodegenerative disorders
Neurocutaneous syndromes
Causes of non-epileptic seizures
Febrile seizures
Metabolic
Head trauma
Infection - Meningitis/encephalitis
Poisons/toxins
Hypoxia/anoxia
=> Reflex anoxia/Cardiac arrythmia
Seizures - Investigations
- History = MOST IMPORTANT
- Examination
- EEG
- Imaging
- Tests to r/o other causes (ECG, bloods)
Seizure - Hx
Frequency, triggers, length, symptoms
Any impairments, educational/psychological/social impacts
Video of seizure if possible
Seizure - Examination
CNS and PNS
CVS and resp
Skin markers for neurocutaneous syndromes
Seizure - Imaging
MRI/CT – if neuro signs between seizures (r/o tumour or CVD)
PET/SPECT – detect areas of hypo/hypermetabolism
What is epilepsy?
How common is it?
= Chronic neurological disorder, characterised by recurrent, unprovoked seizures.
1 in 200 children affected
Types of epileptic seizures
- Generalised
- Discharge from both hemispheres
- No warning
- Always have LOC - Focal:
- Discharge from ONE part of ONE hemisphere
- May have a preceding aura
- May or may not have LOC
- May lead to generalised tonic-clonic seizure if LOC
Generalised epileptic seizures
Tonic-clonic (Grand-mal) Absence (petit-mal) Myoclonic Tonic Atonic
Focal epileptic seizures
Temporal
Frontal
Occipital
Parietal
Tonic-clonic seizure
Tonic phase
=> May fall to ground, hold breath (cyanosis)
Clonic phase => Last seconds to minutes => Rhythmical jerking => Irregular breathing, cyanosis, salivation => Tongue-biting, incontinence
Post-ictal sleep/LOC (up to several hours)
absence seizure
“Blanking out” / staring
Absence of motor symptoms
Brief onset and termination
Myoclonic seizure
Repetitive, jerky movements
Tonic or atonic seizure
Tonic - Generalised increased tone => Fall
Atonic - Loss of muscle tone => fall
Complications of epileptic seizures in children?
Many have learning difficulties
Continuation into adulthood
Sudden unexplained death in epilepsy (SUDEP)
Sudden unexplained death in epilepsy (SUDEP)
Rare but must discuss with parents
Decrease risk by minimising seizures.
Epilepsy - Ix
As per seizure investigations
EEG is always indicated if epilepsy is suspected
Epilepsy - Mx
Depends on likelihood of recurrence, severity and impact on life of seizures.
- Education and Advice
- Anti-epileptic Drugs
- Rescue Therapy
Epilepsy - Education and Advice
Lifestyle – avoid deep baths/swimming alone, alcohol/sleep, only drive if no seizures for 1 year.
During seizure:
• DO – place pillow under head, move nearby objects, note time seizure began, place in recovery position afterwards.
• DO NOT – restrict/move child, give food/drink until complete recovery
For how long are Anti-epileptic Drugs taken?
Until seizure free for 2 years.
Principles of Anti-epileptic Drug therapy
- Drug depends on seizure type
- Aim for monotherapy at lowest effective dose.
- Must be counselled on side effects
- A single seizure does not indicate starting AEDs
What is the 1st line drug for generalised epileptic seizures?
What are the side effects of this drug?
Valproate
Weight gain, Hair loss, TERATOGEN
What is the 2nd line drug for generalised epileptic seizures?
What are the side effects of this drug?
Lamotrigine
Rash (SJS), Insomnia
Indication for Carbamazepine in epilepsy?
What are its side effects?
Focal seizures
SEs - Rash, Hyponatraemia, Ataxia, CYP140 inducer
Indication for Levetiracetam in epilepsy?
Focal seizures
Indication for Ethosuximide in epilepsy?
Absence seizures
Epilepsy - rescue therapy
BZDs
=> Given to terminate prolonged seizures (>5 mins)
Epilepsy Syndromes of Childhood
West Syndrome (Infantile spasms and hypsarrythmia) Lennox-Gastaut Benign Occipital Benign + centrotemporal spikes Childhood Absence Juvenile Myoclonic
What is West Syndrome?
INFANTILE SPASMS
- violent spasms lasting 1-2s
- often on waking
- 4-6 months old
Associated with:
- Low IQ/developmental regression
- Poor social interaction
- Hypsarrhythmia EEG
Lennox-Gastaut Syndrome
- Drop attacks
- T-C
- atypical absence
- Neurodevelopmental arrest
Juvenile Myoclonic Syndrome
Occurs in Adolesence
Myoclonic jerks after waking
Definition of febrile seizures
= seizure accompanied by fever, caused by infection of extra-cranial origin.
DDx – sepsis, meningitis, brain abscess, gastroenteritis.
Usually occur at 6 months – 6 years old
febrile seizures - features
Onset = early in viral infection
Brief (<10 mins), generalised tonic-clonic
Rapidly rising temperature +/- other signs of infection
febrile seizures - complications
Further febrile seizures (30-40%)
Increased risk of epilepsy if complex seizure (>10 mins, focal, recurring in 24 hours, <18 months)
What is the chance of a child having further febrile seizures after their first?
30-40%
febrile seizures - Management
Reassurance – usually no long term complications
Education – high chance of another, seizure first aid, rescue Tx.
May give rescue Tx if >5 mins
Manage underlying infection – anti-pyrexials, fluids, etc.
What can be used for rescue Tx in seizures in children?
diazepam buccal/PR
OR
SL midazolam
What are reflex Anoxic Seizures?
What triggers them?
Occur due to vagal inhibition caused by temporary cardiac asystole.
Triggers – pain, cold food, fear, fever.
Usually grow out of these by age 4-5
How can Cardiac Arrythmias cause seizures?
Prolonged Q-T causes collapse/syncope
May be exercise-induced
Psychogenic non-epileptic Seizures
Triggered by stress/emotions
More common in adolescent girls
Benign Sleep Myoclonus
Myoclonic jerks during REM sleep, no EEG changes
Typically <6 months old
Paroxysmal events
= Sudden onset symptoms mimicking seizures (“funny turns”)
Include:
- breath-holding attacks
- Neurally mediated Syncope/Faint
- Migraine
- Benign Paroxysmal Vertigo
Primary Headaches
- Tension Type
- Cluster
- Migraine
Secondary Headaches
Raised ICP/space occupying lesions
Head/neck trauma,
IC haemorrhage,
Toxins (alcohol/drugs, etc),
Acute sinusitis
features of tension headache
Symmetrical “band” of pressure, gradual onset (usually evening).
features of cluster headache
One-sided, excruciating attacks of pain, often around one eye
features of migraine
= Headache associated with other symptoms
Common in children
Triggers – stress, exercise, tiredness, bright lights, cheese/chocolate, hormones.
Without aura (90%) – bilateral, pulsatile headache + N&V, abdo pain, photophobia, phonophobia => 1-72 hours.
With aura (10%) – preceding visual disturbance (hemianopia/scotoma/zig-zag lines) => several hours.
Features of raised ICP/space occupying lesions
Morning vomiting/headache,
Night-time waking/worse Sx lying down,
Altered mood/behaviour.
Visual field defect,
CN abnormalities,
Abnormal gait,
Papilloedema
Headaches- Ix
Thorough Hx – triggers, onset, duration, Sx, substance use, analgesia overuse.
Physical Examination – vision, sinus tenderness, pain on chewing, BP, CNS & PNS
Headaches - Mx
Education & advice:
=> Reassure that recurrent headaches are common and cause no long-term harm
=> No cure, but can relieve Sx.
Prophylaxis (if >2 per month):
=> 5-HT antagonist, beta-blockers, sodium channel blockers.
Rescue Tx:
=> Analgesia, anti-emetics, serotonin agonists (Sumatriptan, if >12 years).
Psychological Support:
=> If headaches triggered by particular stressor – e.g. bullying, exams.
What is cerebral palsy?
= disorder of movement and posture due to non-progressive disturbance in developing brain <2 years.
Often accompanied by disturbed cognition, communication, vision, perception, sensation, behaviour.
Associated with seizures and secondary MSK problems
what is the most common cause of motor impairment in children?
cerebral palsy
When can the causes of cerebral palsy occur?
- Antenatal (80%)
- Perinatal (10%)
- Postnatal (10%)
Antenatal causes of cerebral palsy
Hypoxia – cord prolapse, APH, maternal shock, rhesus disease, placental insufficiency (pre-eclampsia)
Abnormal development
Congenital infection – e.g. STIs, rubella, CMV
Perinatal causes of cerebral palsy
Hypoxic-ischaemic injury – prolonged labour/delivery, breech, C-section
Postnatal causes of cerebral palsy
Prematurity = big risk factor => intraventricular haemorrhage, infection, etc.
Metabolic disturbance – e.g. hyperbilirubinaemia
Head trauma
Cerebral Palsy - clinical presentation
Although non-progressive damage, Sx often emerge over time during development.
- Abnormal posture and tone
- Delayed motor milestones
- Feeding difficulties
- Asymmetric hand function
Types of cerebral palsy
- SPASTIC (90%)
- DYSKINETIC
- ATAXIC/HYPOTONIC
Spastic Cerebral Palsy
Damaged UMN (corticospinal/pyramidal pathway) => causes spastic movements, hyperreflexia, +ve Babinski
Can be Hemiplegic, Diplegic, Quadriplegic
Dyskinetic Cerebral Palsy
Damaged basal ganglia or extra-pyramidal tracts
=> causes involuntary, uncontrolled movements and dystonia
Chorea = irregular, brief, fidgety movements. Athetosis = slow, writhing movements in distal muscles Dystonia = abnormal tone and muscle contraction causing twisting appearance.
Ataxic/hypotonic Cerebral Palsy
Damage to cerebellum => causes cerebellar signs
Hypotonia, poor balance, uncoordinated movements, intention tremor, ataxic gait.
Management of Cerebral Palsy
- Therapies – physio, occupational therapy, speech and language therapy.
- Medication
- Botulinum toxin injections – improve specific muscle tightness, stop drooling.
- Muscle relaxants – baclofen, diazepam (short-term only) - Surgery:
- Cut nerves to spastic muscles – may cause numbness
- Orthopaedic surgery – lengthen muscles, correct limb position.
Ataxia
= incoordination of muscle movement (gait, speech, posture) due to cerebellar/motor pathway problems.
Causes of ataxia
Medications/Drugs
Infection – varicella
Posterior fossa lesions
Genetic and neurodegenerative disorders
Symptoms of ataxia
Unsteady, wide-based gait
Dysdiadochokinesia and dysmetria
Intention tremor
Nystagmus
Genetic and neurodegenerative disorders causing ataxia
Friedrich Ataxia
Ataxic Telangiectasia
Friedrich Ataxia
Autosomal recessive trinucleotide repeat (frataxin gene)
Diagnosed with genetic testing.
Complications – kyphoscoliosis and cardiomypoathy
Ataxic Telangiectasia
Autosomal recessive DNA repair disorder (ATM gene)
Diagnosed with genetic testing and raised AFP
Complications – increased risk of infection (IgA defect), malignancy (ALL)
Subdural Haematoma - causes
Non-accidental Injury (shaking/direct trauma)
Direct trauma to head
Subdural Haematoma - symptoms
Altered mental state/seizures
Apnoea/breathing difficulty
Retinal haemorrhages often present
=> If a child presents like this consider NAI and safeguarding.
Spinal Muscular Atrophy
Caused by autosomal recessive degeneration of anterior horn cells.
Sx – progressive weakness and wasting of skeletal muscle.
3 types – type 1 is most severe form which presents in infancy and causes death by 1 year from respiratory failure.
Peripheral Neuropathies
Guillain-Barre
Chronic Inflammatory Demyelinating Polyneuropathy
Hereditary Motor Sensory Neuropathies
Bell Palsy
What is Guillain-Barre?
What are the symptoms?
Autoimmune demyelination of peripheral nerves following infection
2-4 weeks after URTI or campylobacter.
Sx:
- Ascending symmetrical weakness (over days-weeks)
- Loss of reflexes
- Distal paraesthesia
- Difficulty chewing/swallowing
- Difficulty breathing (if respiratory muscles affected)
- Autonomic dysfunction – tachy/bradycardia, HTN, urinary retention
Guillain-Barre - Ix
Lumbar puncture – increased protein, normal WCC
Nerve conduction studies – slowed
+/- spinal cord MRI
Guillain-Barre - Mx
Supportive – may need artificial ventilation
Reassure 90% recover fully (may take 2 years)
Chronic Inflammatory Demyelinating Polyneuropathy
Thought to be autoimmune
Sx similar to Guillain-Barre, but slower progression.
Mx – supportive PLUS HIGH DOSE CORTICOSTEROIDS (prednisolone)
Hereditary Motor Sensory Neuropathies
Demyelination and attempted re-myelination of nerves.
What is the most common Hereditary Motor Sensory Neuropathy?
What are the Sx?
How is it managed?
Type 1 (CHARCOT-MARIE-TOOTH) = most common (dominant inheritance)
Sx:
- Progressive symmetrical distal muscle wasting.
- +/- distal sensory and reflex loss
- Physical deformities – stork leg, pes cavus, hammer toes.
Mx = long-term physio and OT to improve symptoms/prevent decline (no cure)
Bell Palsy
- Cause
- Symptoms
- Complications
- Managements
Isolated LMN paresis of CNVII (facial)
Occurs post-infection
Sx – complete hemiparesis of face
Complications – conjunctivitis as cannot close eye.
Mx –
Usually recover fully in several months
Corticosteroids in first week, eye patch.
Muscular Dystrophies
- Duchenne Muscular Dystrophy
- Becker Muscular Dystrophy
- Congenital Muscular Dystrophies
What is the mode of inheritance of Duchenne Muscular Dystrophy?
What does the mutation lead to?
X-linked or de novo mutation – deletion at Xp21
=> Leads to reduced dystrophin protein, resulting in myofiber necrosis
What is the most common muscular dystrophy?
Duchenne Muscular Dystrophy
DMD - signs/symptoms
= Progressive muscular atrophy
Infants – Gower’s Sign, waddling gait, climb stairs 1-by-1, language delay.
Children – slow running, clumsiness, pseudohypertrophy of calves, non-ambulatory by 10-14 years.
Gower’s Sign
Use of their hands and arms to “walk” up their own body from a squatting position due to lack of hip and thigh muscle strength.
Indicates weakness of the proximal muscles
DMD - life expectancy
= early 20s
Due to complications - respiratory failure, cardiomyopathy, scoliosis
DMD - Ix
- Serum creatine phosphokinase – raised
- Genetic testing
- Muscle biopsy.
DMD - Mx
Corticosteroids – 10 days each month, to delay scoliosis and preserve mobility.
- Physiotherapy
- Scoliosis brace, foot and ankle boots/splints
- Surgery to lengthen Achilles tendon/correct scoliosis
- Respiratory support
How does Becker Muscular Dystrophy differ to DMD?
Less common
Some functional dystrophin produced => later onset and slower progression
Longer life expectancy
Congenital Muscular Dystrophies
Present at birth/early infancy
Mostly autosomal recessive
Caused by lack of extracellular matrix protein
Weakness, hypotonia, contractures +/- learning difficulties.
what is Myotonia ?
= delayed relaxation after sustained muscle contraction
e.g. difficulty releasing grip after handshake.
Myotonic dystrophy
Autosomal dominant inherited trinucleotide repeat.
Progressive muscle wasting and weakness.
Symptoms worsen down generations.
Symptoms:
- Infant – feeding and breathing difficulties
- Child – myotonia, facial weakness, learning difficulties
- Adult – cataracts, baldness, testicular atrophy, cardiomyopathy.
what is Hydrocephalus ?
what types are there?
Accumulation of CSF in the brain
Types:
- Non-communicating – obstruction in ventricular system
- Communicating – failure to reabsorb CSF/overproduction
Hydrocephalus - presentation
- Disproportionately large and rapidly increasing head circumference
- Bulging fontanelles, distended scalp veins
- Fixed downwards gaze
- Will develop signs of raised ICP
Hydrocephalus - investigations
- May be diagnosed on antenatal USS
- Cranial USS (infants) or CT/MRI
- Monitor head circumference
Hydrocephalus - management
- Ventriculoperitoneal shunt
- Ventriculostomy
Definition of macrocephaly and causes?
Head circumference >98th centile.
Causes:
- Tall stature
- Familial macrocephaly
- Raised ICP
- CNS storage disorders
- Neurofibromatosis
Definition of microcephaly and causes?
Head circumference <2nd centile
Causes:
- Familial microcephaly
- Autosomal recessive condition
- Congenital infection
- Acquired after insult to developing brain
Craniosynostosis
Premature fusion of one or more sutures leading to distorted head shape.
Types – localised / generalised
- Localised – sagittal suture, coronal suture, lamboid suture
- Generalised – multiple sutures
Trisomies
Trisomy 21 - Down’s Syndrome
Trisomy 13 - Patau Syndrome
Trisomy 18 - Edward’s Syndrome
Down’s syndrome - diagnosis and prevalence
= Trisomy 21
> 50% live to over 50 years
1 in 650
Diagnosis:
- Antenatal screening – combined/triple test + nuchal translucency
- Chromosome analysis – blood test
Prevalence increases with maternal age.
- Age 44 – 1 in 37
Down’s syndrome - physical features
Round face, small mouth/ears, flat nasal bridge, protruding tongue.
Epicanthic folds, brushfield spots
Hypotonia
Single palmar crease
“Sandal gap” between toes
Down’s syndrome - associated conditions
Congenital heart defects (40%) Hearing and visual impairments Leukaemia Cognitive problems / Early-onset Alzheimer’s Epilepsy Coeliac Disease Infections
Edward’s syndrome
Trisomy 18
Physical features:
- IUGR / low birthweight
- Prominent occiput, small jaw
- Overlapping fingers
- Rocker-bottom feet
- Cardiac and renal malformations
Most die in infancy
Patau Syndrome
Trisomy 13
Physical features:
- Brain defects
- Microcephaly, Small eyes
- Cleft lip/palate
- Polydactyly
- Cardiac and renal malformations
Most die in Infancy
Turner’s Syndrome
45, X
Physical Features:
- Short stature
- Webbed neck
- Spoon-shaped nails
- Lymphoedema of hands/feet
Associated Conditions:
- Congenital heart defects (aortic coarctation, bicuspid valve)
- Delayed puberty
- Ovarian dysgenesis (infertility)
- Hypothyroidism
- Renal anomalies
Turner’s Syndrome - diagnosis and treatment
Investigations:
- Blood karyotyping
- Buccal swab (for Barr Body = inactive X chromosome)
- LH and FSH
Treatment:
- Growth hormones
- Oestrogen replacement – develop 2o sexual characteristics but still infertile.
Klinefelter’s Syndrome
47, XXY
1 in 1000
Physical features:
- Hypogonadism/small testes (infertility)
- Gynaecomastia
- Lack of chest/facial hair
- Tall Stature
Tx – testosterone therapy may help.
examples of autosomal Dominant genetic disorders
Tuberous Sclerosis
Achondroplasia (dwarfism)
Marfan Syndrome
Neurofibromatosis (Skin changes and tumours along nerves)
Noonan Syndrome (Similar phenotype to Turner’s Syndrome, also mild learning difficulties)
examples of autosomal recessive genetic disorders
Phenylketonuria (PKU)
Sickle Cell Disease
Cystic Fibrosis
Tay-Sachs disease
examples of X-linked recessive genetic disorders
Males are affected, females are carriers (but may show mild disease.
Fragile X Haemophilia A/B Colour blindness DMD/BMD G6PD deficiency
examples of X-linked dominant genetic disorders
Very rare.
Both males and females will be affected (males usually die).
e.g. - Rett’s Syndrome
=> Severe speech, learning and coordination problems
Prader-Willi Syndrome
No paternal copy of chromosome 15q11-13.
Signs: • Hypotonia • Neonatal feeding difficulties • Insatiable appetite later in childhood • Narrow forehead • Almond-shaped eyes • Triangular mouth
Associated conditions: • Poor growth • Developmental delay • Obesity/T2DM • Learning difficulties • Behavioural problems
Angelman Syndrome
No maternal copy of chromosome 15q11-13.
Signs: • “Coarse” facial features • Microcephaly • Widely spaced teeth and wide mouth • Prominent lower lip
Associated conditions: • Intellectual disability • Severe speech impairment • Hyperactivity • Ataxia • Seizures
Russel-Silver Syndrome
Slow growth before and after birth, PLUS dysmorphic features.
Signs:
• LBW/FTT
• Head often disproportionate to small body
• Triangular face (prominent forehead, narrow chin)
• Curved 5th finger
Associated conditions:
• Short stature
• Delayed development
• Learning disabilities
William Syndrome
May be autosomal dominant or de novo
Signs:
• “Elfin” appearance – wide mouth, small upturned nose, short.
• Outgoing and friendly.
Associated Conditions: • Mild learning disabilities • Hypercalcaemia • ADHD • Aortic stenosis
Foetal stage of growth
30% of eventual height
Dependent on placental nutrition, maternal size/health
Infantile stage of growth (birth to age 2)
15% of eventual height
Dependent on nutrition, thyroid hormones, genes
Childhood stage of growth
40% of eventual height
Dependent on Nutrition, Thyroid and growth hormones, genes
Pubertal stage of growth
15% of eventual height
Dependent on Sex hormones, growth hormones, genes
Emotions and growth
All stages of growth depend on emotions/happiness as these impact hormone levels.
Why do boys end up taller than girls?
Girls start their puberty growth spurt ~2 years before boys (i.e. men get an extra 3-4 years of growth).
Role of GH in growth
Works directly at growth plate and indirectly via IGFs to increase organ size.
Peptide hormone (i.e. cannot be taken orally!)
Positive effect on GH release from catecholamines, serotonin, endorphins.
Negative effect on GH release by somatostatin
What is Laron Syndrome?
= GH insensitivity
Role of thyroid hormones in growth
Acts at growth plate.
Have effects on almost every cell in the body
In hypothyroidism, the growth plate is highly disorganised.
Role of sex hormones in growth
cause growth spurt, bone maturation and fusion of growth plates.
Once the growth plate closes, you will not grow anymore.
Measuring a child’s growth
Weight, height (length if <2 years), head circumference
Plot serial growth measurements on growth chart
+/- Bone age, pubertal stage, BMI
Growth Indications for Urgent Specialist Referral
<0.4th centile or >99.6th centile.
Height markedly discrepant from weight.
Measurements cross centile line after 1 year.
Measurements cross 2 centile lines in 1st year.
Non-pathological causes of short stature
- Familial – short parents
- Constitutional Delay of growth and puberty – late bone maturation and growth spurt.
Pathological causes of short stature
IUGR/extreme prematurity
Chromosomal disorders – Downs, Turner’s, Noonan’s, Russel-silver
Endocrine
=> associated with increase in weight
=> e.g. GH deficiency, excess corticosteroids, hypothyroidism
Nutritional/chronic illness
=> Associated with decrease in weight.
=> E.g. Coeliac, Crohn’s, chronic renal failure.
Investigations for abnormal growth
Height comparison:
- Against weight
- Against expected/mid-parental height
Hx, Examination, Hormone screen:
- Dysmorphic features
- Features of chronic/endocrine illness
- Hormones – GH, TFT, cortisol
- Birth Hx
- Nutritional Hx
Mid-parental height
((Father’s + Mother’s Height) / 2 )
+7cm for boys or -7cm for girls.
Causes of tall stature
Familial
Endocrine
=> Hyperparathyroidism, CAH, excess GH
Precocious puberty
Genetic Syndromes
=> Marfan’s, Klinefelter’s
Puberty age in females
9-11 years – 2o sex characteristics (breast development, then pubic hair)
10-12 years – growth spurt
11-13 years – menarche
Puberty age in males
10-14 years – 2o sex characteristics (increase in testicle size, then pubic hair, then dropping of scrotum and growth of penis)
12-14 years – growth spurt
Tanner Stage 1
= no signs of puberty
At what age is puberty considered early?
<8 years in girls,
<9 years in boys.
At what age is puberty considered delayed?
> 13/14 years in girls,
>14/15 years in boys.
Causes of early/precocious puberty?
True/central – gonadotropin-dependent (premature activation of hypothalamic axis).
=> More common in girls
False/pseudo – gonadotropin-independent (excess sex steroids).
early/precocious puberty - investigations
- FHx, Examination, Hormone Screen
- Growth chart
- X-ray hand (determine bone-age)
- Orchidometer (if >4mm puberty has started)
- USS ovaries/uterus
- MRI (?tumours)
early/precocious puberty - management
Aim = prevent negative psychological impacts and conserve height potential (stop premature growth plate fusion).
Central PP – treat with GnRH analogues.
Pseudo PP – identify and treat underlying cause of excess sex hormones
Causes of delayed puberty
Constitutional delay in growth and puberty
Hypogonadotropic hypogonadism (decreased gonadotropins)
• Systemic disease (CF, anorexia, Crohn’s, increased exercise).
• Intracranial tumours/pituitary damage
• Syndromes – Kallman’s
Hypergonadotropic hypogonadism (increased gonadotropins) • Syndromes – Turner’s, Klinefelters
delayed puberty - investigations
FHx, Examination, Hormone Screen (TFT, LH/FSH) Growth Chart X-ray hand (determine bone age) Pubertal staging – testicular volume/USS Karyotyping
delayed puberty - management
r/o or treat underlying causes
Reassure puberty will occur (Tx not usually needed)
IM testosterone/oestradiol
Cause of T1DM
Autoimmune destruction of pancreatic beta cells.
Genetic with environmental triggers.
=> Environmental triggers – enteroviral infection, cow’s milk, overnutrition.
T1DM - Symptoms
Polyuria, polydipsia, weight loss, lethargy.
+/- nocturnal enuresis, infections, signs of DKA.
Diabetes - diagnosis
= diabetes symptoms PLUS:
• Random blood glucose >11.1 mmol/L
• Fasting blood glucose >7.8 mmol/L
(also TFTs, coeliac screen, etc to r/o other causes)
T1DM - management
- Intensive education for child and parents (and school)
• Injection of insulin and blood glucose monitoring
• Diet – carb counting, low GI carbs, adjustment for activity, alcohol
• “Sick-day” rules
• Signs of DKA/hypoglycaemia - Insulin
• S.c. pump = continuous infusion of rapid acting insulin (novorapid)
• Basal-bolus injection regimen = 2x LA at breakfast and night, and 1x SA before each meal. - Monitoring for complications = annual review
• Growth and pubertal development – risk of obesity/delayed puberty
• BP, renal function, eyesight, foot health
• Associated autoimmune conditions
Difficulties of glucose control in children
- Sugary foods/eat at odd times
- Infrequent/unreliable monitoring
- Poor family support
- Exercise
- Illness (increases insulin need)
Complications of DKA
Cerebral oedema
Hyper/Hypokalaemia
Hyponatraemia
Aspiration
Symptoms of hypoglycaemia
- Sweating, pallor, palpitations/tremor
- Headache, vision changes, confusion
- Hypotonia, poor feeding
- Drowsiness, seizures, coma
Causes of hypoglycaemia
- Neonatal hypoglycaemia
- Fasting/missed meals/ increased exercise
- Increased exogenous insulin dose
- Tumours (insulinoma)
- Drug-induced – sulphonyureas, alcohol
- Liver disease/glycogen storage disorder
- Addison’s, CAH, GH deficiency
Hypoglycaemia - Ix
- Careful Hx
- Physical Examination
- Blood glucose and ketones
- FBC, CRP, U&Es, LFT, TFT, blood gas
- Hormones – insulin, C-peptide, GH, cortisol
- Urinalysis – pH, ketones
Hypoglycaemia - Mx
- Oral fast-acting glucose – sugary drink/glucogel
- IV glucose – 2mL/kg dextrose bolus, then 10% dextrose infusion
- IM glucagon – if unconscious/fail to respond
In which situations should a child’s blood glucose always be measured?
- Becomes septic/appears seriously ill
- Has a prolonged seizure
- Has an altered state of consciousness
Diabetes insipidus
= ADH disorder causing polydipsia and polyuria.
- Central DI – insufficient ADH production
- Nephrogenic DI – lack of kidney response to ADH = more common type in children
Diabetes insipidus - risk factors
Central:
=> Head injury, brain surgery, brain tumour.
Nephrogenic
=> Kidney disease/genetic mutation
=> Nephrotoxic medications (e.g. lithium)
Diabetes insipidus - management
Drink more to prevent dehydration, low salt diet.
Medication review (for nephrotoxics)
CENTRAL – manage with desmopressin (nephrogenic does not respond to desmopressin)
Congenital hypothyroidism - presentation
Initially asymptomatic - Most cases detected with heel-prick test (low T3/T4, high TSH)
Feeding problems, FTT
Prolonged jaundice
Constipation
Pale, cold, mottled skin
Why is it important to identify congenital hypothyroidism?
It is a preventable cause of severe learning difficulties
Acquired Hypothyroidism in children
Usually due to autoimmune thyroiditis
Girls > boys
RFs – Down’s, Turner’s, other autoimmine disorders
Presentation:
- Short stature
- Bradycardia
- Dry skin, thin hair
- Obesity, Constipation, Cold intolerance
- Delayed puberty
- +/- goitre
How is hypothyroidism managed?
Lifelong Levothyroxine
What is the most common cause of hyperthyroidism in children?
What are the symptoms?
Grave’s Disease = most common cause.
Symptoms are similar to in adults, but ALSO:
- Rapid growth in height
- Advanced bone maturity
- Learning difficulties/behavioural problems
- Eye signs are NOT common in children
Cushing’s Syndrome in children
Most commonly due to long-term glucocorticoid Tx
Sx – Cushing Syndrome, growth suppression, osteopenia
Sx of Cushing’s Syndrome
- Central obesity but short stature
- “moon face”
- Hirsutism
- HTN
- Depression
Definition of overweight/obesity in children
<12 years
Overweight = BMI >91st centile
Obese = BMI >98th centile
> 12 years
Overweight = BMI >25
Obese = BMI >30
Risk factors for obesity
- Lack of exercise/poor diet
- Endocrine disorder – hypothyroidism, Cushing’s
- Genetic syndrome – Prader-Willi
Rates of cancer in children
1 in 500 children <15 years develop cancer
Leukaemia and brain tumours are most common
Side Effects of Chemotherapy
- Bone marrow suppression
=> Infection, anaemia, bleeding/bruising - GI disturbance
=> N&V, anorexia, undernutrition - Other
=> Hair loss, weight gain, mood - Long-term
=> Decreased fertility, late puberty
Acute Lymphoblastic Leukaemia (ALL)
- Incidence
- Pathophysiology
- RFs
- Prognosis
- 80% of childhood leukaemia
- Peak age 2-5 years
- Rapidly proliferating lymphocytes resulting in accumulation of abnormal, immature “blast” cells.
- RFs – Trisomy 21
- Prognosis = ~90% cure rate
Acute Lymphoblastic Leukaemia - symptoms
Onset over several weeks
• General – malaise, anorexia, LYMPHADENOPATHY, hepatosplenomegaly
- Anaemia
- Neutropaenia – infections/neutropenic sepsis
- Thrombocytopaenia – bruising, petechiae, nose bleeds
- Bone marrow infiltration – bone pain
- CNS infiltration – headaches, vomiting
Acute Lymphoblastic Leukaemia - Ix
- FBC – low Hb, low platelets, low neutrophils, increased WCC
- Peripheral Blood Film – blast cells
- Clotting screen – 10% have DIC
- Bone Marrow Biopsy = diagnostic and prognostic
- CXR – mediastinal mass (characteristic of T-cell disease)
What should be avoided in children with a mediastinal mass?
NEVER sedate or anaesthetise someone with a mediastinal mass and orthopnoea
Acute Lymphoblastic Leukaemia - Mx
Before starting Tx – correct anaemia, thrombocytopaenia, treat any infections, renal protection (Allopurinol).
- Remission Induction – eradication of blast cells with CHEMOTHERAPY and STEROIDS
- Intensification – period of INTENSE CHEMO to consolidate remission (effective, but increased toxicity levels)
- Continuation – chemo for 2-3 more years (2 in girls, 3 in boys)
- Prophylactic Co-trimoxazole – given routinely to prevent PCP
- Relapse – high-dose chemo and BM transplant
What forms of chemotherapy are given in ALL?
IV and intrathecal
Acute Lymphoblastic Leukaemia - poor prognostic factors
- Age <1 or >10
- WBC >50 x10^9 /L
- Cytogenic abnormalities in tumour cells
- CNS involvement
- Persisting blast cells after initial chemo
What is a lymphoma?
= solid malignancies of immune system
=> increased lymphocyte proliferation in LNs, spleen, thymus, BM
Lymphoma - Ix
- FBC & Blood film
- Lymph node biopsy – Reed-Sternberg cells in HL
- Bone marrow biopsy
- CT/MRI – assess nodal sites
Lymphoma - Mx
- Chemotherapy (+/- radiotherapy if HL)
* PET to monitor Tx response
Hodgkin Lymphoma
- ~20% of lymphomas
- More common in adolescents
- Reed-Sternberg cells on LN biopsy (bi-nucleate “mirror cells”)
- Slightly better prognosis
What is Hodgkin’s Lymphoma often associated with?
50% associated with EBV
Hodgkin Lymphoma - Sx
- Painless Lymphadenopathy – usually cervical, may cause mass effects (SC/bronchial obstruction)
- B-symptoms are less common
B- symptoms
fever,
drenching night sweats,
significant weight loss
Can be associated with Lymphoma
Also non-cancerous states such as TB, various inflammatory/rheumatologic conditions.
Non-Hodgkin’s Lymphoma
- ~80% of lymphomas
- NO R-S cells on LN biopsy
- Slightly worse prognosis
- Can be high-grade/low-grade depending on speed of onset and symptoms.
Non-Hodgkin’s Lymphoma - Sx
Painless Lymphadenopathy – cervical or abdominal, often cause mass effects (mediastinal mass).
Abdominal Symptoms
B symptoms are common
Brain tumour - presentation
Presentation depends on the location of tumour and will vary greatly during the process of growth and development.
General Sx:
- Headaches
- N&V
- Drowsy/irritable
- Seizures
If in posterior fossa/brainstem:
- Ataxia, abnormal eye movements
Brain tumour - Mx
= surgery, chemotherapy and radiotherapy and rehabilitation to:
- Remove tumour
- Prevent tumour recurrence
- Prevent further tumour growth
- Reverse deficits
- Minimise side effects
Neuroblastoma
= tumour arising from neural crest tissue in adrenal gland or SNS
=> 70% abdominal, 50% adrenal 20% thoracic
Neuroblastoma - Sx
- Abdominal mass:
=> usually adrenal gland, BUT could be anywhere along sympathetic chain from neck to pelvis - Metastatic Sx
Neuroblastoma - Complications
Spinal cord compression (if paravertebral) – paraplegia, Horner’s syndrome
Adrenal tumour – HTN
Orbital disease – proptosis, “bruises” under eyes
Neuroblastoma - Ix
- FBC
- Urinalysis (increased catecholamines)
- USS, CT/MRI abdo
- Biopsy = diagnostic
- BM biopsy, MIBG scan – detect mets
Neuroblastoma - Mx
- Non-metastatic = surgery
- Metastatic = high-dose chemo + stem cell rescue
=> POOR PROGNOSIS
Wilm’s Tumour
= nephroblastoma - a tumour of embryonal renal tissue.
Wilm’s Tumour - Sx
Large abdominal mass – often only symptom
\+/- abdo pain, anorexia, anaemia, haematuria, HTN
Wilm’s Tumour - Ix
USS – intrarenal mass
+/- CT/MRI – assess for mets (esp. lungs)
Wilm’s Tumour - Mx
Chemotherapy followed by nephrectomy
Soft tissue Sarcoma
= tumours of connective tissue (muscles, tendons, fat, nerves, etc.)
Rhabdomyosarcoma = most common => highly malignant cancer of skeletal muscle.
Soft tissue Sarcoma - Sx
depends on site:
Head and Neck – proptosis, nasal obstruction/bloody discharge
Genitourinary – dysuria, urinary obstruction, scrotal mass, bloody PV discharge
Soft tissue Sarcoma - Ix
Biopsy
CT/MRI to assess metastases
Soft tissue Sarcoma - Mx
Chemotherapy + radiotherapy + surgery
What are the types of malignant bone tumour?
Osteosarcoma
Ewing’s Sarcoma
Osteosarcoma
- More common
- Usually affects hip, shoulder, knee
- Rapid growth and spread
Ewing’s Sarcoma
- More common in younger children
- Usually affects legs, back, pelvis, ribs, skull
Bone malignancy - Sx
- Persistent, localised bone pain
* Mass on X-ray – often substantial soft tissue mass in Ewing’s
Bone malignancy - Ix
- Bone X-ray
- MRI & Bone scan
- Chest CT – assess mets
- BM sampling – exclude marrow involvement
Bone malignancy - Mx
= chemotherapy then surgery (avoid amputation where possible)
Retinoblastoma
= malignant tumour of retinal cells
Usually affects children <3 years
Caused by chromosome 13 mutation
=> All bilateral and 20% unilateral cases are INHERITED (autosomal dominant)
Retinoblastoma - Sx
- Strabismus
- Iris discolouration
- Leukocoria (white pupillary reflex instead of red)
- Vision changes
- Enlarged pupil
- Red/sore/swollen eye
Retinoblastoma - Ix
MRI and examination under anaesthetic
DO NOT BIOPSY as want to minimise damage to vision
Retinoblastoma - Mx
Chemo followed by laser treatment +/- radiotherapy
Gastro - HPC
Vomiting
- Colour?
- How much, how often?
- When?
- Projectile?
- Headaches? (early morning vomiting and headaches may indicate raised ICP)
Diarrhoea
- Appearance?
- Any blood/mucous?
- How many episodes?
Pain Distension Constipation Jaundice Swelling
Paeds Gastro - other relevant history
- Fever – how high? Pattern?
- Foreign travel
- Joint pain
- Skin rashes
- DHx
- Infectious contacts
- Allergies/intolerances
- Full systemic enquiry
Normal infant stool colour
Meconium – black and sticky
=> Important to ask when this was first passed
Day 3/4 – green
Day 4/5 – yellow (if breast-fed), peanut-butter (if formula fed)
Blood in stool
can be due to infection, injuries or allergies:
Normal stool tinged with red blood = often cow’s milk protein allergy.
Constipated stool with hint of red blood = tears of anus/ small haemorrhoids.
Diarrhoea mixed with red blood = infection
Causes of neonatal jaundice - unconjugated
<24 HOURS
Haemolysis
Infection
Haemorrhage
1 - 14 DAYS
Increased red cell turn over
Concentration Effect
Enzyme Deficiency
> 2 WEEKS
Enzyme Deficiency
Causes of neonatal jaundice - conjugated
<24 HOURS
Thalassaemia (rare)
> 2 WEEKS Hepatitis Obstructive cause Intrahepatic cholestasis Bile transporter defect Metabolic
What are the MOST COMMON causes of neonatal jaundice?
Rhesus disease,
ABO incompatibility,
Physiological jaundice,
Breast milk jaundice.
Physiological Jaundice
- Increased breakdown of red blood cells – HbF replaced by (adult) Haemoglobin
- Immature glucuronidation in Neonatal liver
Breast milk Jaundice
?due to fats in breast milk increasing enterohepatic circulation
Don’t stop the milk! (just affects duration, not severity)
Why and how is neonatal jaundice managed?
Unconjugated bilirubin can be neurotoxic
Treated with PHOTOTHERAPY
Phototherapy for neonatal jaundice
Wavelength 420nm to 480nm (i.e. BLUE light, not UV)
The light is absorbed by the skin and converts unconjugated bilirubin
This is done to reduce the ability of bilirubin to cross the BBB, thereby avoiding the neurotoxicity of high levels.
The baby will need eye protection and to have its temperature and hydration monitored
What is Biliary Atresia?
bile flow from the liver to the gallbladder is blocked
=> bile becomes trapped in the liver, causing damage and cirrhosis, and eventually failure.
How does biliary atresia present?
Symptoms appear ~2-8 weeks after birth.
- Jaundice
- Dark urine
- Pale stools
- Weight loss and irritability
Biliary Atresia - Ix
FBC, LFT, clotting
AXR – enlarged liver/spleen
Abdo USS – small/absent gall bladder or bile ducts.
Liver biopsy
Diagnostic surgery and operative cholangiogram (done at same time)
Biliary Atresia - Mx
= Kasai procedure (hepatoportoenterostomy)
Aim is to re-establish bile flow from the liver to the intestine.
Removal of damaged extra-hepatic ducts and attachment of a loop of intestine to the draining bile ducts of the liver.
If the Kasai procedure is unsuccessful, a liver transplant may be needed
Acute causes of liver disease in children
Viral Hepatitis Poisoning (Alcohol, Paracetamol) Wilson’s Disease Tyrosinaemia (Probably not in this age group) Autoimmune Hepatitis
Chronic causes of liver disease in children
Hep B, C Autoimmune hepatitis Drugs (non-steroidals) Inflammatory Bowel Disease Primary Sclerosing Cholangitis Wilson’s Alpha-1-antritrypsin Cystic fibrosis
Wilson’s Disease
Rare recessive disorder involving copper metabolism
Presents with acute hepatitis, fulminant liver disease or cirrhosis
Copper in cornea – Kaiser-Fleischer Ring
Management of a child with severe malnutrition
Treat/prevent hypoglycaemia, hypothermia, dehydration
Correct electrolyte imbalance
Correct micronutrient deficiencies
Feeding
=> Begin feeding gradually over days 1-7
=> Then increase feeding to recover lost weight
Kwashiorkor malnutrition
= Severe protein deficiency but normal caloric intake
Oedema
Reduced s.c. fat
Fatty liver is common
Can have associated infections (loss of Ig)
Can be in combination with Marasmus
Worse prognosis
Marasmus malnutrition
Severe deficiency of all nutrients
Inadequate caloric intake
Fat and muscle wasting (absent s.c. fat)
Better prognosis
What is in the 6 in 1 vaccine?
Diphtheria, Tetanus, Pertussis, Polio, Haemophilus influenzae type b, Hep B
When does the NIPE occur?
Within 72 hours post-birth
Again at 6-8 weeks (usually at GP)
What needs to be done if a baby is born breech / in breech position after 36 weeks gestation?
will need to have USS of their hips due to increased risk of developmental dysplasia of the hip.
What aspects of history are relevant to acquire before performing the NIPE?
Maternal/Birth Hx:
- Mum’s wellbeing after birth
- Pregnancy details – date/time and type of delivery/complications
- Breech presentation – do they need USS to r/o DDH?
- Risk factors for neonatal infection
- Abnormalities noted on antenatal scans
- Family history – first-degree relatives with hearing problems/hip dislocation/childhood heart problems/congenital cataracts/renal problems
Newborn Hx
- Feeding
- Wet nappies
- Passing of meconium
- Any parental concerns?
What is important to do before starting a NIPE?
Acquire relevant History
Check growth chart or measure weight
=> identify if small/normal/large for gestational age
parts to cover in NIPE
General inspection Head Face Upper limb Chest (+neck) Abdomen Genitalia + anus Lower limb Back Reflexes
NIPE - general inspection
Colour:
- Jaundice
- Pallor
- Cyanosis
Posture and movement:
- Any gross abnormalities?
- Spontaneous movement of limbs
Birthmarks/bruising
TONE – floppy when picked up?
NIPE - head
Inspection
- SIZE – macrocephaly/microcephaly,
- SHAPE – sutures closely applied/ widely separated / normal.
Palpation of fontanelles
- Tense/bulging or Sunken or normal?
Measure head circumference
NIPE - face
Inspect face
- Facial features
- Asymmetry
- Trauma (bruising, lacerations)
- Patency of nasal passages
Eyes:
- Assess for red reflex
- Position and shape of eyes
- Subconjunctival haemorrhage,
- Discharge
Mouth:
- Cleft lip and palate,
- Suckling reflex, rooting reflex
- Tongue tie
Ears:
- Any asymmetry, skin tags, pits or the presence of accessory auricles.
NIPE - upper limb
Inspect neck:
- Normal length?
- Lumps
Brachial pulses (both arms)
Tone
- Move the baby’s arms
Inspect hands:
- Polydactyly
- Palmar creases
NIPE - chest
Inspection
- Asymmetry
- Obvious chest derformities
- Resp rate / signs of respiratory distress
Auscultate lungs
Auscultate heart sounds
NIPE - abdomen
Inspection
- Distension, hernias
- Umbilical cord – swelling, erythema, discharge
Palpation for organomegaly
- Liver, spleen, kidneys, bladder
NIPE - genitalia
Inspect
- Any ambiguity of genitalia?
MALE:
- Position of urethral meatus
- Palpate scrotum to identify if both testes are present
- Any swelling?
FEMALE:
- Inspect labia, clitoris, discharge
Inspect for patent anus
- Ask if meconium within 24 hours
NIPE - lower limbs
FEMORAL PULSES
Inspect for abnormalities:
- Asymmetry (esp. leg lengths)
- Oedema
- Digits (extra/missing) and ankle deformities
Assess tone
NIPE - hips
REMOVE NAPPY AND WARN PARENTS
Barlow’s Test
Ortolani Test
NIPE - back
Inspect for NTDs / asymmetry
Palpation of spine
NIPE - reflexes
Palmar grasp
(Sucking and rooting – done in mouth inspection)
Moro reflex
How to perform the Moro Reflex?
What might cause an abnormal moro reflex?
Support the infant’s upper back with one hand, then drop back once or twice into your other hand.
A normal Moro reflex involves the extension of the legs and head whilst the arms jerk upwards with the fingers extended. The arms are then brought together and the hands clench into fists, and the infant cries.
Asymmetry may be due to hemiparesis, brachial plexus injury or a fractured clavicle.
Mode of imaging for diagnosis of DDH
<4.5 months = USS
>4.5 months = X-ray
features of fragile X syndrome
Learning difficulties Macrocephaly Long face Large ears Macro-orchidism
What murmur is commonly associated with Turner’s Syndrome ?
Ejection systolic
due to bicuspid aortic valve, associated with Turner’s
Therapeutic Cooling
Involves cooling the neonate to around 33.5 - 34.5ºC for 72 hours within a six hour window of a hypoxia inducing event/birth.
Lowering core body temperature will slow the metabolic rate and allow cells more time to recover from the hypoxic insult.
When is the newborn heel prick test performed?
What does it test for?
~ 5 days
CF PKU Sickle cell disease Congenital hypothyroidism Medium-chain acyl-Co-A dehydrogenase deficiency
