Paediatrics Flashcards
What is bronchiolitis?
It is infection and inflammation of the bronchioles, usually caused by RSV. Usually affects babies 6m-1y and sometimes up to 2y
What are other causes of bronchiolitis?
Rhinovirus
Parainfluenza
Adenovirus
Influenza
Human metapneumovirus
What are the signs and symptoms of bronchiolitis?
Coryzal symptoms preceding a dry cough and increasing breathlessness, often with decreased breathing and potential episodes if apnoea.
-signs of respiratory distress
-fast breathing
-heavy or laboured breathing
-mild fever (<39)
-wheezes and crackles under auscultation
-liver may be displaced downwards
What are the signs of respiratory distress?
-raised resp rate
-use of accessory muscles to aid breathing eg sternocleidomastoid, abdo or intercostal muscles
-intercostal and subcostal recessions
-nasal flaring
-head bobbing
-tracheal tugging
-cyanosis
-abnormal airway noises
What are the investigations for bronchiolitis?
Pulse oximetry: assess oxygenation
CXR: to identify hyperinflation, atelectasis and consolidation
Nasopharyngeal swab: immunofluorescent antibody testing for RSV binding
What are the reasons for hospital admission for a child with bronchiolitis?
-aged <3months
-any pre existing condition eg prematurity, T21 or cystic fibrosis
-50 –> 75% less of normal milk intake
-resp rate above 70
-O2 sats below 92%
-moderate to severe respiratory distress
-apnoeas
-parents not confident in their ability to manage at home or difficulty accessing medical help at home
What is the management of bronchiolitis?
Supportive
Oxygen can be delivered via:
-nasal cannula (low or high flow)
-Mask
-CPAP or BiPAP
-full ventilation eg intubation
-ensuring adequate intake eg through NG tube or IV fluids
-bronchodilators for wheeze eg nebulised salbutamol or ipratropium –> adrenaline works well
Define croup
An acute infective respiratory disease affecting young children aged 6m-2y. It is an URTI causing oedema in the larynx.
What is the other name for Croup?
laryngotracheobronchitis
What are the causes of croup?
Parainfluenza (most common cause!)
Influenza
Adenovirus
RSV
(used to be caused by diphtheria)
What are the signs and symptoms of croup?
Increased work of breathing eg subcostal or intercostal recession etc
barking cough
hoarse voice
stridor –> harsh and rasping
low grade fever
(DO NOT EXAMINE THE THROAT OR UPSET THE CHILD!!)
How is croup managed?
Mild: at home with rest and fluids. Chest recession and stridor should disappear at rest
In more severe cases: hospitalisation, oral prednisolone or dexamethasone, or nebulised steroids, nebulised adrenaline (epinephrine). Important to stabilise child, avoid upsetting them and contact anaesthetics for possible emergency intubation.
Indications for hospitalisation = signs of respiratory distress, parents feel unable to cope at home or <12months due to smaller airway
What is epiglottitis?
A life threatening emergency due to high risk of respiratory obstruction. Caused by H. Influenzae type B. swelling of the epiglottis and surrounding tissues associated with septicaemia. Occurs in children 1-6years old.
Less common in children due to vaccines –> IMPORTANT TO ASK ABOUT VACCINES!!!!
What are the symptoms of epiglottitis?
High fever
Drooling –> painful throat prevents swallowing
Quiet –> unable to speak due to pain
Soft inspiratory stridor and rapidly increasing respiratory difficulties over a few hours –> rapid narrowing of upper airways
Sitting forward with mouth open
Septic/unwell child –> pale, drowsy, agitated
What are the investigations for epiglottitis?
Investigations should not be done if patient acutely unwell and epiglottitis suspected.
A lateral xray of the neck shows a thumb sign pressing on the trachea –> oedema and swelling of the epiglottis. X-rays can be used to exclude foreign body inhalation.
What is the management of epiglottitis?
DO NOT UPSET THE PATIENT!! –> do not upset them by examining (no lying down/touching etc), signs of respiratory distress can be seen from a distance. Bleep the most senior consultant paediatrician, consultant anaesthetist and ENT surgeon possible.
Intubation and transfer to ICU in cases of airway obstruction and in severe cases tracheostomy if complete airway obstruction. Child must be accompanied by senior medical stuff.
Once airway is secure –. blood gases, cultures etc
-IV abx eg ceftriaxone
-IV steroids eg dexamethasone
What is a common complication of epiglottitis?
Epiglottic abscess.
Life threatening emergency with similar management to epiglottitis
What are the differences between croup and epiglottitis?
Croup: longer time course, preceding coryzal symptoms, barking cough, can drink, not septic, low grade fever <38.5, stridor is hoarse/loud/rasping, voice is hoarse
Epiglottitis: more acute onset over hours, no preceding coryzal symptoms, minimal cough, can’t feed and mouth open and drooling, septic, high grade fever >38.5, stridor is soft and may either have muffled voice and unable to talk.
What is the cause of innocent heart murmurs in children?
Rapid flow and turbulence of blood through the great vessels and across normal valves
What are the characteristics of an innocent heart murmur?
Always systolic
Low intensity sounds
Intensifies with cardiac output eg exercise or fever
Asymptomatic patient
No radiation
No associated heave or thrill
What are the three types of innocent heart murmur
Venous hum
Flow murmur
Musical murmur
What are the pan-systolic murmurs?
Mitral regurgitation
Tricuspid regurgitation
Ventricular septal defect
What are the ejection systolic murmurs?
Aortic stenosis
Pulmonary stenosis
Hypertrophic obstructive cardiomegaly
Where can be mitral regurgitation be heard?
mitral area –> fifth intercostal space, mid clavicular line
Where can tricuspid regurgitation be heard?
tricuspid area –> fifth intercostal space, left sternal border
What are the characteristics of a pathological heart murmur?
-all diastolic murmurs
-all pan-systolic murmurs
-loud murmurs
-continuous murmurs
-if there are associated cardiac abnormalities
-abnormal signs & symptoms –> shortness of breath, tiredness/fatigue, FTT, cyanosis, finger clubbing, hepatomegaly
Where can a ventricular septal defect be heard?
left lower sternal border
Where can aortic stenosis be heard?
aortic area –> second intercostal space, right sternal border
pulmonary stenosis –> pulmonary area, second intercostal space, left sternal border
Where can pulmonary stenosis be heard?
pulmonary area –> second intercostal space, left sternal border
Where can hypertrophic obstructive cardiomyopathy be heard?
fourth intercostal space, left sternal border
What type of shunt does an atrial septal defect lead to?
Left –> right shunt
Blood moves from the left atrium to right atrium due to the high pressure in the left atrium which means blood continues to flow to the lungs to be oxygenated and the patient does no become cyanotic. However leads to overload on the RHS of the heart and right heart failure/pulmonary hypertension.
What are the types of atrial septal defect?
Ostium secondum (septum secondum fails to fully close leaving a hole in the wall)
Patent foramen ovale (where the foramen ovale fails to fully close)
Ostium primum (where septum primum fails to fully close and leads to atrioventricular valve defects)
What is the blood flow through the heart in a foetus?
Blood enters the foetal circulation from the umbilical cord, enters the liver and reaches the IVC where it travels to the right atrium. Blood is then shunted from the right atrium to the left atrium via the foramen ovale (bypassing the undeveloped lungs) into the left atrium and then into the foetal circulation as oxygenated blood to supply the rest of the foetus.
What happens in the heart when the baby is born and takes its first breath?
When the baby takes its first breath, the lungs and pulmonary arterial circulation become fully functional and the pressure on the right side of the heart drops.
Pressure on the left side of the heart is now greater, and so blood in the left atrium pushes the valve of the foramen ovale against the muscular septum secondum and closing the passage between the two atria
At around 3 months after birth, the septum secondum and the valve of the foramen ovale fuse to form the solid intratrial septum
What are the clinical features of an ostium secundum defect (ASD)?
most children are asymptomatic and may very rarely present with heart failure
What are the clinical features of an ostium primum (partial atrioventricular septal defect) defect?
most children with small defects are asymptomatic
larger defects may lead to congestive heart failure or children may present with recurrent chest infections
Which syndrome is commonly associated with an ostium primum defect (partial atrioventricular septal defect)?
Down’s syndrome (trisomy 21)
What are the physical signs of an AVSD?
an ejection systolic murmur
a fixed and widely split second heart sound –> because the blood is flowing from the left atrium into the right atrium, increasing the volume of the blood that the right ventricle has to empty before the pulmonary valve can close
What is the management for children with an ASD defect?
referral to a paediatric cardiologist
if small —> watch and wait
Surgical correction –> transvenous catheter closure or open heart surgery
What is a ventricular septal defect?
A congenital hole in the septum wall between the two ventricles
Why is a VSD acyanotic?
Due to the increased pressure in the left ventricle vs the right, blood flows from left to right. Blood is still flowing around the lungs before entering the rest of the body so they remain acyanotic. A left to right shunt leads to right sided overload, right heart failure and increased flow into the pulmonary vessels. A left to right shunt leads to right sided overload and right heart failure and increased flow into the pulmonary vessels. If this continues, the shunt can reverse due to the pressure being higher in the right than the left leading to cyanosis (Eisenmenger syndrome).
What are the symptoms of small VSDs?
Asymptomatic
What are the physical signs of small VSDs?
Loud pansystolic murmur at lower left sternal edge in the third and fourth intercostal spaces
What are the investigations for small VSD?
CXR: normal
ECG: normal
Echocardiogram: can be seen. Doppler echocardiography can show the haemodynamic effects
What is the management of small VSDs?
They will close spontaneously.
What are the symptoms of a large VSD?
Heart failure with breathlessness and FFT after 1 week old
Recurrent chest infections
What are the signs of a large VSD?
Tachypnoea, tachycardia and enlarged liver from heart failure
soft pansystolic or no murmur (indicating large defect)
apical mid diastolic murmur
What are the investigations for a large VSD?
CXR: cardiomegaly, enlarged pulmonary arteries, increased pulmonary vascular markings, pulmonary oedema (signs of heart failure)
ECG: biventricular hypertrophy
What is the management of a large VSD?
Drugs: therapy for heart failure with diuretics combined with captopril
Surgery: at 3-6months. transvenous catheter closure via femoral vein.
What are the common causes of heart failure?
Normally congenital structural.
-large left –> right shunt eg large VSD
-left sided obstructive lesions eg coarctation of aorta
-cardiomyopathy
-myocarditis eg viral/rheumatic fever
-endocarditis
-myocardial ischaemia eg kawasaki
-tachyarrhythmias eg supraventricular tachycardia
-acute HTN
-high output eg severe anaemia, thyrotoxicosis
What are the symptoms of heart failure?
breathlessness –> especially on feeding or exertion
sweating
poor feeding
recurrent chest infections
What are the signs of heart failure?
poor weight gain/FTT
tachypnoea
tachycardia
heart murmur/gallop rhythm
enlarged heart
hepatomegaly
cool peripheries
What are the causes of heart failure in neonates?
hypoplastic left heart syndrome
critical aortic valve stenosis
severe coarctation of the aorta
interruption of the aortic arch
What are the causes of heart failure in infants?
ventricular septal defect
atrioventricular septal defect
large persistent ductus arteriosus
What are the causes of heart failure in older children/adolescents?
Eisenmenger syndrome
rheumatic heart disease
cardiomyopathy
What are the investigations for heart failure?
CXR: cardiac enlargement, oedema in the lungs
Echocardiography: congenital heart defects
ABG: metabolic acidosis/reduced PO2
ECG: not diagnostic
Serum electrolytes: hyponatraemia due to water retention
What is the management for heart failure?
Underlying cause must be treated
Supportive care –>
-bed rest and nurse in a semi upright position
-supplemental oxygen
-diet: sufficient calorie intake
-diuretics
-angiotensin converting enzyme inhibitors
How can congenital heart disease be classified?
Into cyanotic or acyanotic
Give examples of acyanotic CHD?
VSD
ASD
PDA
pulmonary valve stenosis
coarctation of the aorta
aortic stenosis
hypoplastic left heart syndrome
hypertrophic obstructive cardiomyopathy
dextrocardia
Give examples of cyanotic congenital heart disease?
tetralogy of fallot
transposition of the great arteries
tricuspid atresia
total anomalous pulmonary drainage
What is congenital aortic stenosis?
patients are born with a narrow aortic valve —> they have 1-4 leaflets on their valve. Supravalvular form or aortic stenosis is associated with Williams syndrome
What are the clinical features of aortic stenosis?
mild stenosis is normally asymptomatic
neonates –> severe defects may present heart failure and collapse
older children –> sudden unexpected syncope and chest pain on exertion.
symptoms are typically worse on exertion
What are the signs of aortic stenosis?
ejection systolic murmur heard loudest at the aortic area (second intercostal space)
radiates to the carotids
may have palpable thrill, ejection click, slow rising pulse
What is the management of aortic stenosis?
gold standard investigation is echocardiogram
Patients need regular follow up under paediatric cardiologist with echocardiograms, ECG and exercise testing to monitor progress of the condition
Treatment: percutaneous balloon aortic valvoplasty, surgical aortic valvotomy, valve replacement
What is coarctation of the aorta?
Coarctation of the aorta is a congenital condition where there is narrowing of the aortic arch, usually around the ductus arteriosus. The severity of the coarctation can vary from mild to severe. It is often associated with underlying genetic syndromes eg Turners Syndrome
What is the pathophysiology of coarctation of the aorta?
Narrowing of the aorta reduces the pressure of blood flowing to the arteries that are distal to the narrowing. It increases the pressure in areas proximal to the narrowing, such as the heart and the first three branches of the aorta.
Coarctation of the aorta presentation?
Only indication of coarctation in a neonate may be weak femoral pulses.
- performing a four limb blood pressure will reveal high blood pressure in the limbs supplied by the arteries that come before the narrowing
- may be a systolic murmur heard below the left clavicle and below the left scapula
- tachypnoea and increased work of breathing
-poor feeding
-grey and floppy baby
additional signs may develop over time:
- left ventricular heave due to left ventricular hypertrophy
underdeveloped left arm where there is reduced flow to the left subclavian artery
- underdevelopment of the legs
What is the management of coarctation of the aorta?
In mild cases, patients can live symptom free until adulthood without requiring surgical management.
In severe cases, patients will require emergency surgery shortly after birth –> prostaglandin E is used to keep the ductus arteriosus open while waiting for surgery
- surgery corrects the coarctation and ligates the ductus arteriosus
What is transposition of the Great Arteries (TOGA)?
A condition where the attachments of the aorta & pulmonary trunk to the heart are swapped. This means the right ventricle pumps blood into the aorta and the left ventricle pumps blood into the pulmonary. During pregnancy the foetus develops normally due to foetal circulation/placenta.
After birth the condition is immediately life threatening as there is no connection between the systemic circulation and the pulmonary circulation that allows blood flowing through the body an opportunity to get oxygenated in the lungs.
Immediate survival depends on a shunt between the systemic & pulmonary circulation eg PDA, ASD or VSD
How does TOGA present?
The defect is often diagnosed during pregnancy with antenatal ultrasound scans. If not detected during pregnancy, it will present with cyanosis at or within a few days of birth. A PDA or VSD can initially compensate by allowing blood to mix between the systemic circulation and the lungs –> within a few weeks of life they will develop respiratory distress, tachycardia, poor feeding, poor weight gain and sweating.
What is the management for TOGA?
When there is a VSD, will allow some mixing of blood between the 2 systems and provide some time for definitive treatment
A prostaglandin infusion can be used to maintain the ductus arteriosus
A balloon septostomy creates and artificial ASD allowing blood returning from the lungs to flow to the RHS of the heart
Definitive management is open heart surgery
What is acute rheumatic fever?
An auto-immune condition that develops in response to infection with group A beta-haemolytic streptococcus, normally seen in children aged 5-15 years
What is the pathophysiology of rheumatic fever?
typically caused by streptococcus pyogenes causing tonsillitis but can be any group A beta haemolytic streptococcal bacteria.
The immune system creates antibodies which target the bacteria but also match antigens on the body cells eg muscle cells in the myocardium
Leads to a type 2 hypersensitivity reaction
What is the criteria used to make a diagnosis of rheumatic fever?
Jones Criteria
What is required to make a diagnosis of rheumatic fever?
Jones criteria –> two major or one major & one minor criteria plus supporting evidence of preceding group A streptococcal infection
What are the major manifestations in the rheumatic fever criteria?
Pancarditis –> endocarditis: significant murmur, valvular dysfunction. Myocarditis: may lead to HF. myocarditis: pericardial friction rub, pericardial effusion, tamponade
Polyarthritis –> ankles, knees and wrists tended, moderate swelling and redness lasting <1 week
Sydenham chorea –> involuntary movements and emotional lability lasting 3-6 months
Erythema marginatum –> early manifestation, rash on trunk and limbs, pink macules spreading outwards
Subcutaneous nodules –> rare, painless and pea sized hard nodules
What are the minor manifestations of rheumatic fever?
fever
polyarthralgia
history of rheumatic fever
raised ESR/CRP
prolonged pr interval on ECG
evidence of streptococcal infection
antistreptococcal antibody titres (ASO)
What are anti-streptococcal antibodies titres (ASO)?
anti-streptococcal antibodies are antibodies against streptococcus and indicate a recent strep infection
After acute infections levels are usually:
-rise over 2-4 weeks
-peak around 3-6 weeks
-gradually fall over 3-12months
What is the management of the acute phase of rheumatic fever?
bed rest
anti-inflammatory drugs eg aspirin
corticosteroids for 2-3 weeks
diuretics/ACEi if in HF
antibiotics eg penicillin for 10 days
long term therapy eg prophylactic abx
What is a complication of chronic rheumatic fever?
recurrent bouts with associated carditis result in scarring and fibrosis of the heart valves. Valves may become incompetent and need replacement
What is infective endocarditis?
a condition caused by the infection of the endocardium by bacteria (rarely fungus), most commonly affects the heart valves. Also commonly occurs at sites of previous damage.
What are the (adult) risk factors for infective endocarditis?
valvular damage:
-previous rheumatic heart disease
-age related valvular degeneration
-prosthetic valve
recent dental work/poor dental hygiene
IV drug use –> more chance of multiple organisms, tricuspid valve is usually affected on the right side
What are the most common organisms associated with infective endocarditis?
streptococcus viridans
staphylococcus aureus
group streptococcus
Which children are at increased risk of infective endocarditis?
children with turbulent blood flow
PDA or VSD
previous rheumatic fever
coarctation of the aorta
What are the clinical features of infective endocarditis?
symptoms are mild in the early stages
non specific symptoms of myalgia and arthralgia, headache, weight loss, night sweats, prolonged fever over several months
What is seen on examination when someone has infective endocarditis?
pallor/anaemia
nail bed splinter haemorrhages
osler’s nodes
janeway lesions
finger clubbing (late)
necrotic skin lesions
splenomegaly
haematuria (microscopic)
roth spots (retinal infarcts)
heart murmurs
What are the main investigations for infective endocarditis?
Blood cultures –> multiple samples taken over 48-72hours from multiple sites
ECHO –> identify damage done to the heart
What is the criteria used for diagnosing infective endocarditis?
modified duke’s criteria
What is in the major criteria of the modified duke’s criteria?
Positive blood cultures
evidence of endocardial involvement eg positive ECHO findings showing unusual blood flow, unusual material or new valve regurgitation
What is in the minor criteria of the modified duke’s criteria?
Fever >38
Predisposition to IE eg IV drug user, congenital heart condition, prosthetic valve
Unusual echo
Immunological features present eg osler’s nodes, roth spots, rheumatoid factor, glomerulonephritis
Blood cultures positive but major criteria not satisfied
vascular abnormalities eg embolism, aneurysm, infarcts, conjunctival haemorrhage
How do you use the modified duke’s criteria to diagnose IE?
IE definitely present:
2 major criteria present OR
1 major, 3 minor OR
5 minor
IE possibly present:
1-4 minor criteria present AND
no other diagnosis more likely
What is the medical treatment for infective endocarditis?
Acute presentation: flucloxacillin, gentamycin
Subacute presentation: benzylpenicillin, gentamycin
Prosthetic valve/resistant organism: triple therapy of vancomycin, gentamycin, rifampicin
What is the surgical treatment for infective endocarditis?
valve replacement
Indications for surgery –> resistance to antibiotic treatment, fungal disease resistant to treatment, IE causing embolic events, IE with CHF, severe structural damage on ECHO
What is Kawasaki disease?
The most common cause of acquired heart disease in the UK. It is a systemic vasculitis.
How is a diagnosis of Kawasaki disease made?
A clinical diagnosis
-high fever present for at least 5 days >38.5, in the presence of 4/5 of the following criteria –>
Conjunctivitis
Changes to the lips/tongue –> dry lips, fissuring of the lips, strawberry tongue
Cervical lymphadenopathy
Changes to the extremities –> redness/swelling to the palms and soles or peeling of fingers and toes
What are other associated features of Kawasaki disease not in the diagnostic criteria?
Renal: urethritis
MSK: arthralgia/arthritis
CNS: aseptic meningitis
GI: D&V
Cardia: CHF, myocarditis, acute MI
Coronary aneurysms
What are the investigations for Kawasaki disease?
Haematology: leucocytosis, thrombocytosis
Coagulation: increased coagulability
ESR/CRP elevated
Raised AST/ALT
ECG usually normal
ECHO aneurysms may be seen 7-21 days post onset of fever
What is the treatment for infective endocarditis?
High dose IV immunoglobulin 2g/kg over 12hour as a single infusion
Aspirin 30-50mg/kg/day
What is Klinefelter syndrome?
When a male has an addition X chromosome so they are 47, XXY
What are the features of Klinefelter syndrome?
usually diagnosed in childhood where there is:
-clumsiness, learning difficulties, self obsessed behaviour
In adulthood:
-taller than average, long limbs, gynaecomastia & infertility, inc risk of leg ulcers and breast cancer
What is the management options for Klinefelter?
testosterone injections may improve symptoms related to sexual development
advanced IVF techniques to allow fertility
MTD input:
-speech & language therapy
-occupational therapy
-physiotherapy
-educational support
How is Klinefelter syndrome inherited?
Not directly inherited –> occurs due to the egg or sperm having an extra X chromosome
What is Turner Syndrome?
When a female has a single X chromosome making them 45, XO
What are the clinical features of Turner Syndrome?
foetus: generalised oedema and fat pad
neonates: may appear normal, peripheral oedema, webbed neck, low posterior hairline, shortening of the 4th metacarpal, nipples widely spaced, coarctation of the aorta
neuro signs: may be none, some slight altering of social skills or other high functional skills
What are late signs of Turner’s?
short stature
ovarian defects
hypothyroidism
pigmented nodules
pigmented moles
wide carrying angle of the arm
recurrent otitis media
delayed puberty
What heart defect is commonly associated with Turner’s syndrome?
coarctation of the aorta
What is the treatment of Turner’s syndrome?
growth hormones at age 3 if epiphyseal plates haven’t fused
oestrogen at pubertal age to ensure development of secondary sexual characteristics
What is Williams Syndrome?
A syndrome caused by deletion of genetic material on one copy of chromosome 7, usually a result of random deletion around conception rather than being inherited from an affected parent
What are the features of Williams Syndrome?
broad forehead
starbust eyes
flattened nasal bridge
long philtrum
wide mouth with widely spaced teeth
small chin
very sociable & trusting personality
mild learning disability
What conditions are associated with Williams Syndrome?
supravalvular aortic stenosis
ADHD
hypertension
hypercalcaemia
What is the management of Williams syndrome?
no cure, focus on MDT approach and supporting the patient and their family
ECHO and BP monitoring to assess for aortic stenosis and htn
How is diagnosis of Williams syndrome made?
by FISH study for 7q11 microdeletion
What is Noonan syndrome?
An autosomal dominant disorder, most caused by mutation in the PTPN11 gene on chromosome 12q
What are the features of Noonan syndrome?
short stature
broad forehead
downward sloping eyes with ptosis
hypertelorism
low set ears
webbed neck
widely spaced nipples
What conditions are associated with Noonan syndrome?
congenital heart disease –> pulmonary valve stenosis, hypertrophic cardiomyopathy and ASD
undescended testes
learning disability
bleeding disorders
lymphoedema
increased risk of leukaemia and neuroblastoma
What is Down Syndrome?
The patient has 3 copies of chromosome 21- it is the most common autosomal trisomy
What are the clinical features of Down Syndrome?
usually presents at birth
-generalised hypotonia and marked head lag
-small low set ears
-up slanting eyes
-small head with flat back
-short neck
-short stature
-flattened face and nose
-prominent epicanthic folds
-single palmar crease
What complications are associated with Down Syndrome?
-learning disability
-recurrent otitis media
-deafness due to eustachian tube abnormalities
-visual problems
-hypothyroidism
-cardiac defects eg ASD, VSD, patent ductus arteriosus and tetralogy of fallot
-leukaemia
-dementia
What is the antenatal screening for Down Syndrome?
Screening tests give a risk score for having Down’s Syndrome
Combined test: 14-20weeks
-USS measuring thickness of the back of the head of the foetus (nuchal translucency) >6mm may be indicative of Down Syndrome
-maternal blood tests of beta HHCG (high results = greater risks) and pregnancy associated plasma protein A (PAPPA) lower result =greater risk
Triple test: 14-20weeks
-involves maternal blood tests of beta HCG, alpha fetoprotein (AFP) low result = greater risk, serum oestriol lower result = greater risk
When is antenatal testing for Down’s Syndrome offered?
When the screening tests provide a risk of more than 1 in 150, woman is offered testing
-amniocentesis: US guided aspiration of some amniotic fluid OR
-chorionic villus sampling: US guided biospy of placental tissue done early on in pregnancy <15weeks
What is non invasive prenatal testing?
A maternal blood test –> maternal blood contains fragments of foetal DNA & placental tissue which can be analysed to detect Down’s syndrome
What is the management for Down’s Syndrome?
Care from MDT –> OT, S&L, physio, dietician, paediatrician, GP, health visitors, cardiology for congenital heart problems, ENT, audiology, opticians, social services
What is peri-orbital cellulitis?
an infection of the peri-orbital tissue/skin
Name some of the causes of peri-orbital cellulitis?
Superficial injury eg insect bite, conjunctivitis, infection of the skin eg H.Influenzae (if unvaccinated) or S Aureus
Can be secondary to URTi or sinusitis –> contiguous spread from surrounding structures
What are the signs and symptoms of peri-orbital cellulitis?
eyelid oedema and erythema with no orbital signs eg full ocular motility, no drooping eyelids, normal vision –> may also be systemically unwell if cause is URTI or sinusitis eg with fever
What is the management of peri-orbital cellulitis?
5-7 day course of IV antibiotics
What is a complication of peri-orbital cellulitis?
orbital cellulitis
How is orbital cellulitis different to peri orbital cellulitis?
Patients with orbital cellulitis will have restricted and painful eye movements, their visual acuity and colour vision may be reduced, loss of red colour vision is the first sign of optic neuropathy
What are the investigations for orbital cellulitis?
Swabs and cultures of the conjunctiva and nasopharynx
Bloods: show raised WBC (neutrophilia) and CRP raised
Contrast CT of orbit, sinuses and brain
What is the management of orbital cellulitis?
Involvement of ENT and ophthalmology particularly if red colour vision affected and painful eye movements
7-10 day course of IV antibiotics
What is juvenile idiopathic arthritis?
Autoimmune inflammation of the joints lasting >6 weeks in patients under 16
What are the 5 subtypes of JIA?
Systemic JIA
Polyarticular JIA
Oligoarticular JIA
Enthesitis related arthritis
Juvenile psoriatic arthritis
What are typical features of Systemic JIA (Still’s Disease)?
subtle salmon pink rash
high swinging fevers
enlarged lymph nodes
weight loss
joint inflammation and pain
splenomegaly
muscle pain
pleuritis and pericarditis
What are the investigations and their results for systemic JIA?
Blood tests:
antinuclear antibodies and rheumatoid factors are typically negative
raised CRP, ESR, platelets and serum ferritin
What is a key complication of systemic JIA?
Macrophage activation syndrome
Describe polyarticular JIA
involves idiopathic inflammatory arthritis of 5 or more joints, tends to be symmetrical and can affect small and large joints. Rarely systemic symptoms
Can be seronegative (most children)
Or seropositive (older children and adolescents –> similar to rheumatoid arthritis in adults)
Describe oligoarticular JIA
idiopathic inflammatory arthritis involving 4 joints or less, normally affects the larger joints and seen more commonly in girls under the age of 6
classic associated feature of anterior uveitis with no systemic features and inflammatory markers normal
Antinuclear antibody POSITIVE! (not always)
Describe enthesitis related arthritis
Inflammation of the point at which the tendon of a muscle inserts into a bone. It is the paediatric version of the seronegative spondyloarthropathy conditions. Can be caused by traumatic stress or an autoimmune inflammatory process.
Most will have the HLAB27 gene.
May have symptoms of inflammatory bowel disease, psoriasis or anterior uveitis
Describe juvenile psoriatic arthritis
Seronegative inflammatory arthritis associated with psoriasis. Can be symmetrical or asymmetrical.
On examination patients may have:
plaques of psoriasis
pitting of the nails
onycholysis
dactylitis
enthesitis
How is juvenile idiopathic arthritis managed?
Care is coordinated by a specialist in paediatric rheumatology with the involvement of a specialist MDT
Medical treatment –>
NSAIDS for pain eg ibuprofen
Steroids eg oral, intramuscular or intra-articular in oligoarthritis
DMARDs eg methotrexate or sulfasalazine
Biology therapy eg tumour necrosis factor inhibitors eg etanercept or infliximab
Define measles
Infection of the respiratory system passed on by airborne transmission and caused by the morbillivirus, a type of paramyoxovirus.
What are the signs and symptoms of measles?
fever –> temperature increases from day 1-5
Koplik’s spots –> small white spots on the buccal mucosa visible from days 2-5
Cough –> present through the whole symptomatic phase
rash –> days 3-7 starting behind the ears and spreading down the body
Conjunctivitis symptoms and coryzal symptoms –> days 1-5
What are the investigations for measles?
blood film: leucopenia and lymphopenia
LFTs: raised transaminases
oral fluid test: measles RNA confirms diagnosis –> serum serology can also be used
What is the management of measles?
Acute treatment: supportive with abx if secondary infection occurs eg pneumonia
Vitamin A: in developing countries, deficiency can lead to a more severe course of illness
Antivirals in the case of immunocompromised patients
Hospital admission –> isolation
What are the complications of measles?
Acute otitis media
LRTI eg bacterial pneumonia
Encephalitis –> occurring 8 days after the onset of illness
Subacute sclerosing panencephalitis
Name the virus that causes chicken pox
Varicella-Zoster
What are the signs and symptoms of chicken pox?
prodrome: spread by respiratory droplets or direct contact with lesions
rash: usually starts on head and trunk before spreading to the rest of the body. Starts as red macules progressing to macules –> vesicle –> pustule –> crusting
Other features: headache, appetite loss, signs of URTI, fever and itching
What is the management of chicken pox?
symptoms: treatment of fever and itching
stay off school for 5 days from start of skin eruption
antivirals eg aciclovir in immunocompromised patients
What is a febrile seizure?
A seizure in response to a rapid rise in temperature. They occur in the presence of a fever eg temperature >38
What are risk factors for further febrile convulsions?
young age at first seizure
early on in the course of infection at first seizure
relatively low temperature at first seizure
family history
Describe a simple febrile seizure?
last <15 minutes
generalised tonic clonic
isolated event –> doesn’t occur again within the same febrile seizure
uneventful recovery
Describe a complex seizure
lasts >15 minutes
focal or focal with secondary generalisation
reoccurs within 24 hours of the same febrile illness
rarely suffers from Todd’s paresis afterwards
Important questions to ask when taking a febrile seizure history
has the child been vaccinated
are they at school
any previous abx treatment
any history of trauma or toxin ingestion
any family history
developmental history
rule out meningitis/encephalitis!!!
What are the investigations for febrile seizures?
looking for source of infection –> urinalysis, stool and blood cultures, normal blood tests, LP if suspect meningitis, CXR
CT/MRI/EEG may be considered if complex febrile seizures
What is the management for febrile seizures?
A-E assessment
General measures eg monitoring the child, preventing injuries by cushioning head, keep child well hydrated
prolonged seizure –> benzodiazepine rescue treatment
What is tetralogy of fallot?
most common cyanotic congenital heart disease made up of VSD, pulmonary stenosis, right ventricular hypertrophy, overriding aorta
What are the risk factors for tetralogy of fallot?
male
1st degree family history of CHD
teratogens during pregnancy –> alcohol, warfarin, trimethadione
DiGeorge syndrome
VACTERL association
CHARGE syndrome
associated congenital defects eg right aortic arch
What is VACTERL association?
A disorder that affects:
Vertebral defects
Anal atresia
Cardia defects
Tracheo-oesophageal fissures
Renal anomalies
Limb abnormalities
Why is a patient cyanotic in TOF?
The VSD –> it is normally significant in size and so the pressures between the 2 ventricles are fairly equal. In more severe disease, there is an increased right ventricular pressure secondary to pulmonary stenosis and a right to left shunt forms allowing deoxy and oxy blood to mix leading to lower oxygenated blood in systemic circulation leading to cyanosis.
What is an overriding aorta in TOF?
The aorta is displaced over the intraventricular septum –> receives blood from both ventricles via the VSD, this also causes the aorta to be dilated.
Describe the 3 categories of the severity of TOF?
- Mild (pink) TOF: infants have mild PS and RVH, usually asymptomatic. The disease progresses as the child grows so they become cyanotic by age 1-3
- Moderate-Severe TOF: may present in the first few weeks of life with cyanosis and respiratory distress. They may be prone to recurrent chest infections or failure to thrive.
- Extreme TOF: can be further divided into TOF with pulmonary atresia or absent pulmonary valve. These are duct dependent lesions because the only way deoxygenated blood can reach the lungs is through a patent ductus arteriosus. If not picked up on antenatal scans, will present in the first few hours of life with marked respiratory distress and cyanosis as the PDA closes.
What are the signs and symptoms of TOF?
Cyanosis
Clubbing
Poor feeding
Poor weight gain
Ejection systolic murmur heard loudest in pulmonary area
Other signs of congestive heart failure –> sweating, pallor, tachycardia, hepatosplenomegaly, generalised oedema, bilateral basal crackles
What are Tet spells? (COME BACK TO ME!)
Sudden onset dyspnoea/cyanosis
Triggered by an event that slightly reduces O2 concentration eg crying/feeding
These events temporarily worsen the right to left shunt leading to worsening cyanosis
What are the investigations for TOF?
ECG: may show right axis deviation and RVH
Microarray: if genetic syndromes suspected eg dysmorphic features
CXR: may show boot shaped heart due to RVH
Echocardiogram (gold standard):
What is the medial management for TOF?
Squatting: helps increase venous return and so increasing systemic resistance
Prostaglandin infusion: must be started urgently as helps maintain PDA in the most severe forms of TOF
Beta blockers: eg propranolol. Reduces heart rate and thus venous return
Morphine: reduces respiratory drive and so reduces hyperpnoea
Saline 0.9% bolus can be used during tet spells as a volume expander to increase pulmonary blood flow through the right ventricular outflow tract obstruction.
What is the surgical management for TOF?
Palliative:
-transcatheter RVOT stent
-modified Blalock-Taussig shunt which aims to mimic a PDA and increase pulmonary blood flow before definitive repair when a child is older
Definitive:
-performed under cardiopulmonary bypass –> RVOT stenosis resection, VSD patch closure and pulmonary artery augmentation
What are the complications of untreated TOF?
Polycythaemia
Cerebral abscess
Stroke
Infective Endocarditis
Congestive cardiac failure
Death (up to 25% in 1st year of life)
What genetic syndromes can be associated with TOF?
Alagille syndrome
DiGeorge syndrome
Down’s syndrome
What is viral induced wheeze?
Acute wheezy illness caused by viral infection –> children have small airways and when they encounter a virus, even a small amount of inflammation and oedema is enough to restrict airflow
What is viral induced wheeze?
Acute wheezy illness caused by viral infection –> children have small airways and when they encounter a virus, even a small amount of inflammation and oedema is enough to restrict airflow
What is the difference between viral induced wheeze and asthma?
VIW typically presents before 3 years of age, no atopic history and only occurs during viral infections
What are the signs and symptoms of viral induced wheeze?
preceding viral illness eg fever, cough, coryzal symptoms for 1-2 days
and then onset of shortness of breath, signs of respiratory distress and expiratory wheeze through the chest (not localised!!)
Onset of wheeze and SOB may be sudden over a few hours
What is the management of viral induced wheeze?
Similar to acute asthma eg
nebulised beta 2 agonist eg salbutamol
nebulised ipratropium
steroids eg prednisolone or hydrocortisone
Oxygen
Fluids
Pain relief
What are the investigations for viral induced wheeze?
CXR: will help rule out pneumonia
Bloods:
-FBC eg may show increased WBC –> increased neutrophils may point to bacterial infection vs increased lymphocytes may point to viral infection.
What are the investigations for viral induced wheeze?
CXR: will help rule out pneumonia
Bloods:
-FBC eg may show increased WBC –> increased neutrophils may point to bacterial infection vs increased lymphocytes may point to viral infection.
ABG: may have respiratory tachypnoea/assess for respiratory distress
What is pneumonia?
infection of the lungs characterised by inflammation of the lung parenchyma –> causes sputum to fill the airways and alveoli
Which pathogens affect which age groups of children?
Newborns: organisms from mother’s genital tract eg strep B, gram negative enterococci
Infants and younger children: viral eg RSV bacterial eg streptococcus pneumoniae, haemophilus influenzae, chlamydia trachomatis
Children over 5: usually bacterial eg mycoplasma pneumoniae, streptococcus pneumoniae and chlamydia pneumoniae, staphylococcus
For all ages: THINK TUBERCULOSIS
What are the risk factors for developing pneumonia?
having these conditions:
-congenital lung cysts
-chronic lung disease
-immunodeficiency
-cystic fibrosis
-sickle cell disease
tracheostomy in situ
low birth weight
vitamin A deficiency
What are the signs and symptoms of pneumonia?
usually preceding URTI
fever
SOB
cough (may or may not be present, younger children either will not cough or will not have a productive cough)
lethargy
localised pain eg neck, chest or abdo (always rule out meningitis)
tachypnoea
signs of respiratory distress eg nasal flaring, head bobbing, tracheal tug, chest hyperinflation, recessions etc
wheeze
consolidation eg associated with dullness to percussion may not be present in children
on auscultation, creps may be confined to one lobe of the lung, or one lung eg not all over
What are the investigation for pneumonia?
CXR- may confirm or rule out diagnosis and cannot differentiate between bacterial and viral causes although CXR with cavities, fluid and air is usually caused by staphylococcus. blunting of costophrenic angle indicates parapneumonic effusion
nasopharyngeal aspirate can help identify causative organisms
What are the indications for admission to hospital if a child has suspected pneumonia?
most pneumonia cases can be managed at home but indications for admission are:
O2 <93% (don’t rely on sats)
tachypnoea
grunting
apnoea episodes
poor feeding
signs of severely increased WOB
floppy, limp or lifeless child
signs of severe dehydration
What is the management of pneumonia?
O2 therapy
IV fluids
Abx depending on age of child, severity of illness etc
-newborns: wide spectrum IV abx eg gentamycin or amoxicillin
-older children: amoxicillin is first line (if no allergy) and then co-amoxiclav if complicated case, alternatives could include doxycycline or ceftriaxone if penicillin allergy present
-age >5 years old: amoxicillin first line, erythromycin second line
What is the management of pneumonia?
O2 therapy
IV fluids
Abx depending on age of child, severity of illness etc
-newborns: wide spectrum IV abx eg gentamycin or amoxicillin
-older children: amoxicillin is first line (if no allergy) and then co-amoxiclav if complicated case, alternatives could include doxycycline or ceftriaxone if penicillin allergy present
-age >5 years old: amoxicillin first line, erythromycin second line
What is necrotising enterocolitis?
a disorder affecting premature neonates where part of the bowel becomes necrotic. It is a life threatening emergency –> always think NEC if a neonate is vomiting bile!!
What are the risk factors for developing necrotising enterocolitis?
very low birth weight or very premature
formula feeds (less common in babies fed by breast milk)
respiratory distress and assisted ventilation
sepsis
patent ductus arteriosus and other congenital heart disease
What are the signs and symptoms of NEC?
classic presentation: feeding intolerance, vomiting (may be blood or bile stained), abdominal distention and haematochezia
progresses and features include abdominal tenderness, abdominal oedema, erythema and palpable bowel loops
may also present with systemic features eg apnoea, lethargy, bradycardia and decreased peripheral perfusion
What are the investigations for NEC?
Abdo X-Ray: diagnostic imaging –> distended bowel loops, thickened bowel wall and intramural gas (pneumatosis intestinalis/gas within the wall of the small & large intestine), gas in the portal tract and pneumoperitoneum in the later stages due to bowel perforation.
Bloods:
-FBC showing anaemia, thrombocytopena and leukocytosis/leukopenia
-U&Es showing hyponatraemi
-blood gas showing metabolic acidosis
-blood culture to rule out sepsis
How is NEC staged?
Bell Scoring System
Describe the Bell scoring system
Stage 1: suspected NEC. Lethargy, temperature instability, apnoea, bradycardia, abdo distension, emesis, haematochezia. Bowel distension only on an xray
Stage 2: definite NEC. As in stage 1 plus metabolic acidosis, thrombocytopenia, abdo tenderness, absent bowel signs. Xray showing bowel distension, portal venous gas, pneumatosis intestinalis
Stage 3: Advanced NEC. As in stage 1 & 2 plus, severe acidosis, electrolyte abnormalities, thrombocytopenia, marked GI bleeding. Xray as in stage 2 plus pneumoperitoneum (gas in the peritoneal cavity)
What is the management of NEC?
prophylaxis: antenatal steroids if premature delivery is expected plus breast feeding is protective
medical: suitable if stage 1 or 2 –> withhold oral feeds for 10-14 days and replace w/ parenteral nutrition plus systemic support
surgical:
-indications for surgery include intestinal perforation, GI obstruction secondary to stricture formation, deterioration despite medical management
-methods include intestinal resection with stoma formation
What are the complications of NEC?
intestinal perforation
sepsis
death
short bowel syndrome
neurodevelopmental disorders
NEC recurrence
What is gastroschisis?
A full thickness abdominal wall defect in which foetal abdominal organs protrude outside the abdomen with no protective layer. Due to contact with amniotic fluid, the bowel is thick and matted. Usually detected on an USS at 20 weeks but also visible at birth. If picked up on USS, birth should be at a neonatal surgical centre
What are the risk factors for gastroschisis?
maternal smoking –> possibly due to placental insufficiency
maternal age <20 years old
environmental exposure eg to nitrosamines
maternal cyclooxygenase inhibitors eg use of ibuprofen and aspirin
What are the clinical features of gastroschisis?
Abdo organs are herniated outside the abdominal cavity usually through a full thickness opening (not through umbilicus as this is exomphalos)
commonly involved organs –> small intestines, large intestines, stomach and liver
DEFINING FEATURE: no protective sack around the organs
intestines may also be thick and swollen, the neonatal abdominal cavity may be smaller than expected
Also associated with intestinal malrotation and intestinal atresia
What is the management of gastroschisis?
Immediate management: immediate fluid resuscitation, clear & sterile covering over the organs, maintain adequate temperature and place baby on right side to prevent kinking of mesenteric vessels
Definitive management: surgery aims to reduce the organs and close the abdominal wall defect. larger defects may need a staged surgical approach to return the contents to the abdomen slowly by placing them in a sac called a silo
-following surgery, a nasogastric tube is inserted to decompress the bowel and parenteral feeding is given while the inflammatory peel recovers.
