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.
Describe the excretion of bilirubin
RBC broken down –> unconjugated bilirubin which is conjugated in the liver –> excreted via the biliary system into the intestinal tract and out via stool or out via urine
Describe physiological jaundice
High concentration of red blood cells in the foetus and neonate and they are more fragile than normal RBC PLUS neonates and foetuses have less developed liver function
Foetal red blood cells break down more rapidly than normal RBC, releasing lots of bilirubin which is normally excreted via the placenta, however at birth, the foetus no longer has access to the placenta leading to a normal rise in bilirubin shortly after birth from 2-7 days of age.
physiological jaundice is always unconjugated bilirubin
Describe some of the causes of jaundice in the first day of life
Most common cause is haemolysis due to ABO incompatibility, rhesus disease of the newborn or hereditary spherocytosis
Can also be caused by infection so TORCH screen should be done
Describe some of the causes of prolonged jaundice
(jaundice after 14 days)
breast feeding jaundice can continue into the fourth or fifth weeks
congenital hypothyroidism
biliary atresia
What is Kernicterus?
A life threatening condition when bilirubin levels reach >360micromolar/litre
This means bilirubin can cross the blood brain barrier and form deposits in the basal ganglia and brain stem
What are signs of Kernicterus
neurological signs –> lethargy, poor feeding, fits and coma
untreated Kernicterus can lead to death
What are the investigations for neonatal jaundice?
Bloods –> SBR including conjugated and unconjugated, FBC, blood film, blood grouping, LFTs, TFTs, blood cultures for TORCH screening, Coomb’s test
Urine dipstick to look for bilirubin and a source of sepsis
What are some of the causes of unconjugated hyperbilirubinaemia?
physiological jaundice, breast milk jaundice, sepsis, haemolysis, pyloric stenosis, prematurity, hypothyroidism
What are some of the causes of conjugated hyperbilirubinaemia?
biliary atresia, neonatal sepsis, metabolic disturbance
What does the acronym TORCH stand for?
Toxoplasma gondii
Other agents eg treponema pallidum, varicella zoster, parvovirus & HIV
Rubella
Cytomegalovirus (CMV)
Herpes simplex virus (HSV)
What is hypoxic ischaemic encephalopathy?
Brain damage due to lack of oxygen during birth
List some causes of hypoxic ischaemic encephalopathy?
maternal shock
intrapartum haemorrhage
prolapsed cord causing compressions of the cord during birth
Nuchal cord where the cord is wrapped around the neck of the baby
What is the staging for Hypoxic ischaemic encephalpathy?
Sarnat staging
Describe the stages in Sarnat staging?
Mild: poor feeding, general irritability, hyper alert, resolves within 24 hours, normal prognosis
Moderate: poor feeding, lethargic, hypotonic & seizures, can take weeks to resolve with up to 40% developing cerebal palsy
Severe: reduced consciousness, apnoeas, flaccid & reduced or absent reflexes, up to 50% mortality with 90% developing cerebal palsy
What is the management of hypoxic ischaemic encephalopathy?
care coordinated by specialists in neonatology in a neonatal unit
supportive care w/ neonatal resuscitation and ventilation, circulatory support, nutrition, acid base balance and treatment of seizures
therapeutic hypothermia –> can be beneficial in babies near or at term who have HIE. Involves actively cooling the core temperature of the baby in the neonatal ICU using cooling hats and blankets to a temperature of 33-34 degree across 72 hours before being warmed back up over 6 hours. The intention is to reduce the inflammation and neurone loss –> reduces the risk of cerebal palsy, developmental delay, learning disability, blindness and death.
What is meconium aspiration syndrome?
A spectrum of respiratory distress in neonates born through meconium stained amniotic fluid. Respiratory distress can range from mild to life threatening.
Describe some of the features seen with meconium aspiration related respiratory distress
Partial or total airway obstruction
Foetal hypoxia
Pulmonary inflammation
Infection
Surfactant inactivation
Persistent pulmonary hypertension
What are some of the risk factors for meconium aspiration syndrome?
Gestational age >42 weeks
Foetal distress eg tachycardia/bradycardia
Intrapartum hypoxia secondary to placental insufficiency
Thick meconium particles
Apgar score <7
Chorioamnionitis or prolonged pre rupture
Oligohydramnios
In utero growth restriction
Maternal htn, diabetes, pre eclampsia, eclampsia, smoking or drug abuse
What are the investigations for meconium aspiration syndrome?
CXR: increased lung volumes, asymmetrical patchy pulmonary opacities, plural effusions, pneumothorax or pneumomediastinum
Bloods: FBC, CRP, blood cultures
ABG
Dual pulse oximetry: oxygen sats should be measured in the right upper limb and one of the lower limbs (pre ductal and post ductal) to determine hypoxia and assess any potential right to left shunts
ECG: excludes congenital heart abnormalities
Cranial ultrasound: assess for hypoxic damage to the brain
What are the differential diagnoses when considering meconium aspiration syndrome?
transient tachypnoea of the newborn
surfactant deficiency
persistent pulmonary hypertension
What is the management of meconium aspiration syndrome?
Observations eg continuous oxygen sats and observe for signs of respiratory distress
Nutritional support IV –> nasogastric –> oral
Ventilation depending on infant’s requirements
Antibiotics if clinical suspicion of infection
Surfactant
Inhaled nitric oxide
Steroids
What is nephrotic syndrome?
Occurs when the basement membrane in the glomerulus becomes highly permeable to protein, allowing the proteins to leak from the blood into the urine
What are the features of nephrotic syndrome?
Classic triad:
-low serum albumin
-proteinuria >3g/24hour
-oedema
Other features include:
-deranged lipid profile with high levels of cholesterol, triglycerides and low density lipoproteins
-high blood pressure
-hypercoagulability
What are the causes of nephrotic syndrome?
most common cause is: minimal change disease
secondary causes (intrinsic kidney disease): focal segmental glomerulosclerosis & membranoproliferative glomerulonephritis
secondary causes (underlying systemic illness):
-HSP
-diabetes
-infection eg HIV, hepatitis & malaria
What are the investigations & their results for minimal change disease?
Renal biopsy & standard micropsy–> shows no abnormality
urinalysis –> small molecular weight proteins & hyaline casts
What is the management of nephrotic syndrome?
general management: high dose steroids, low salt diet, diuretics may be used to treat oedema, albumin infusions in severe hypoalbuminaemia, antibiotic prophylaxis in most serious cases
High dose steroids given for 4 weeks & gradually weaned over the next 8 weeks
In steroid resistant children: ACEi & immunosuppressants eg cyclosporine, tacrolimus, rituximab
What is respiratory distress syndrome?
Affects premature neonates, born before the lungs start producing adequate surfactant. Commonly occurs below 32 weeks.
Describe the pathophysiology of respiratory distress syndrome
Inadequate surfactant leads to high surface tension within alveoli leading to atelectasis (lung collapse) as it is more difficult for the lungs to expand. This leads to inadequate gaseous exchange resulting in hypoxia, hypercapnia and respiratory distress
What is the management for respiratory distress syndrome
Antenatal steroids given to mothers with suspected or confirmed preterm labour increases the production of surfactant and reduces the incidence and severity of respiratory distress
Premature neonates:
-intubation & ventilation
-endotracheal surfactant –> artificial surfactant delivered into the lungs via an endotracheal
-CPAP via a nasal mask to help keep the lungs inflated while breathing
What are the complications of respiratory distress syndrome?
Short term:
-pneumothorax
-infection
-apnoea
-intraventricular haemorrhage
-pulmonary haemorrhage
-necrotising enterocolitis
Long term:
-chronic lung disease of prematurity
-retinopathy of prematurity
-neurological, hearing and visual impairment
What is neonatal abstinence syndrome (NAS)?
Refers to the withdrawal symptoms that happens in neonates of mothers that used substances in pregnancy.
List some of the substances that cause neonatal abstinence syndrome
Opiates
Methadone
Benzodiazepines
Cocaine
Amphetamines
Nicotine/Cannabis
Alcohol
SSRI antidepressants
When does withdrawal occurs after birth in neonates?
Opiates/diazepam/SSRIs/alcohol: 3-72 hours after birth
Methadone/other benzodiazepines: 24 hours -21days
What are some of the signs and symptoms of withdrawal on NAS?
CNS: irritability, increased tone, high pitched cry, not settling, tremors, seizures
Vasomotor & resp: yawning, sweating, unstable temperatures, pyrexia, tachypnoea
Metabolic/GI: poor feeding, regurg & vomiting, hypoglycaemia, loose stools with a sore nappy area
What is the management of NAS?
-babies are kept in hospital with monitoring on a NAS chart for at least 3 days (48 hours for SSRIs)
-urine sample collected to test for substances
-oral morphine sulphate for opiate withdrawal
-oral phenobarbitone for non-opiate withdrawal
Define bronchopulmonary dysplasia (chronic lung disease of prematurity)
Chronic lung disease that occurs in premature babies –> typically those born before 28 weeks. It is usually caused by prolonged ventilation & is further defined by age of prematurity/extent of supplemental oxygen requirement. Diagnosis is made based on chest xray changes and when the infant requires oxygen therapy after they reach 36 weeks gestational age
What are the features of bronchopulmonary dysplasia?
- Low oxygen saturations
- Increased work of breathing
- poor feeding & weight gain
- crackles/wheezes on auscultation
- increased susceptibility to infection
How do you prevent bronchopulmonary dysplasia?
- corticosteroids to mothers that show signs of premature labour at less than 36 weeks gestation (betamethasone)
once neonate is born:
- use cpap rather than intubation/ventilation
- use caffeine to stimulate the respiratory effort
- not over oxygenating with supplementary oxygen
Management of bronchopulmonary dysplasia?
- a formal sleep study to assess oxygen sats during sleep
- they are weaned off oxygen over the first year of life –> can be discharged home on low dose oxygen
- must be protected against RSV to reduced risk & severity of bronchiolitis –> monthly injections of monoclonal antibody against the virus called palivizumab
What are the common organisms causing neonatal sepsis?
Group B strep –> common bacteria found in the vagina
E. Coli
Listeria
Klebsiella
Staph. Aureus
What are the risk factors for neonatal sepsis?
Vaginal GBS colonisation
GBS sepsis in a previous baby
Maternal sepsis, chorioamnionitis or fever >38
Prematurity
Early membrane rupture
Prolonged rupture of the membranes
Clinical features of neonatal sepsis?
Fever
Reduced tone and activity
Poor feeding
Respiratory distress or apnoea
Vomiting
Tachycardic or bradycardic
Hypoxia
Jaundice within 24 hours
Seizures
Hypoglycaemia
Red flags for neonatal sepsis?
-confirmed or suspected sepsis in the mother
-signs of shock
-seizures
-term baby needing mechanical ventilation
-respiratory distress starting more than 4 hours after birth
-presumed sepsis in another baby in a multiple pregnancy
How do you treat for presumed sepsis?
- If there is one risk factor or clinical feature, monitor the observations and clinical condition for at least 12 hours
- If there are two or more risk factors or clinical feature of neonatal sepsis start antibiotics
- Antibiotics should be started if there is a single red flag
- Antibiotics should be given within 1 hour of making the decision to start them
- Blood cultures should be taken before antibiotics are given
- Check a baseline FBC and CRP
- Perform a lumbar puncture if infection is strongly suspected or there are features of meningitis (e.g. seizures)
What is the treatment for neonatal sepsis?
Abx: benzylpenicillin & gentamycin
- check CRP again at 24hours and check blood culture results at 36hours –> can consider stopping if clinically well & CRP/blood cultures ok
What is haemolytic uraemic syndrome (HUS)?
Occurs when there is thrombosis within small blood vessels throughout the body. Usually triggered by a bacterial toxin called shiga toxin
What is the HUS triad?
Haemolytic anaemia: anaemia caused by RBC being destroyed
AKI: failure of kidneys to excrete waste
Thrombocytopenia: low platelet count
What are the signs and symptoms of HUS?
E Coli (shigella/shiga toxin) causes a brief gastroenteritis with blood diarrhoea and symptoms of HUS start around 5 days after onset of diarrhoea:
- reduced urine output
- haematuria or dark brown urine
- abdominal pain
-lethargy and irritability
-confusion
-oedema
-hypertension
-bruising
What is the management of HUS?
It is a medical emergency and has 10% mortality
What is coarctation of the aorta?
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 an underlying genetic condition eg Turner’s Syndrome
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 eg the heart and first three branches of the aorta (brachiocephalic, left subclavian & left common carotid)
Presentation of coarctation of the aorta?
Often only indication in neonates is weak femoral pulses
Performing a four limb blood pressure will reveal high BP in the limbs that come from before the narrowing and low BP in limbs that come after the narrowing.
May be systolic murmur below the left clavicle and below the left scapula.
Other signs:
-tachypnoea
-poor feeding
-grey and floppy baby
Additional signs that may develop over time:
-left ventricular heave due to LV hypertrophy
-underdeveloped left arm where there is reduced flow to the left subclavian
-underdevelopment of the legs
Management of coarctation of the aorta?
Mild cases: patients can live symptom free until adulthood
Severe cases: emergency surgery just after birth. Risk of heart failure death after birth. Prostaglandin E is used to keep the ductus arteriosus open while waiting for surgery. Surgery is then performed to close the ductus arteriosus and repair the narrowing.
What is transposition of the great arteries? (TOGA)
Where the attachments of the aorta and pulmonary trunk are swapped. This means the right ventricle pumps blood into the aorta and the left ventricle pumps blood into the pulmonary vessels.
Normal development during pregnancy due to foetal circulation. After birth the condition is immediately life threatening as there is no connection between the systemic circulation and pulmonary circulation. The baby will be cyanosed.
Immediate survival depends on a shunt between the systemic circulation & pulmonary circulation that allows blood flowing through the body an opportunity to get oxygenated in the lungs. This shunt can occur across a PDA, ASD or VSD
Presentation of TOGA
- diagnosed during pregnancy with antenatal ultrasound scans
- if defect is 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 & sweating
Management of TOGA
- a VSD provides some time for definitive treatment due to the mixing of blood
- prostaglandin infusion can be used to maintain the ductus arteriosus
-balloon septostomy can create large artificial ASD buying time for definitive management through open heart surgery & bypass to perform an arterial switch
Define GORD as seen in children
In babies there is immaturity of the lower oesophageal sphincter, which allows stomach contents to easily reflux into the oesophagus. It is normal for babies to reflux feeds
Presentation of (problematic) GORD
chronic cough
hoarse cry
distress eg crying or unsettled after feeds
reluctance to feed
pneumonia
poor weight gain
Causes of vomiting in children/babies?
Overfeeding
GORD
Pyloric stenosis
Gastritis/gastroenteritis
Appendicitis
Infections eg UTI, tonsillitis or meningitis
Intestinal obstruction
Bulimia
Vomiting red flags from a history?
- not keeping down any feed –> pyloric stenosis/intestinal obstruction?
- projectile or forceful vomiting –> intestinal obstruction/pyloric stenosis?
- bile stained vomit –> intestinal obstruction/necrotising enterocolitis?
- haematemesis or melaena
- abdo distension
- reduced GCS, bulging fontanelle or neurological signs
- resp symptoms –> aspiration/infection?
- blood in stools –> gastroenteritis/cows milk protein allergy?
- signs of allergy –> cows milk protein allergy
-apnoeas –> always concerning!
Management of GORD?
Practical advice:
- small, frequent meals
- burping regularly
- not over feeding
- keep baby upright after feeding
Problematic cases:
- gaviscon mixed with feeds
- thickened milk or formula eg specific anti reflux formulas
- PPI eg omeprazole
What is Sandifer’s Syndrome?
Rare condition causing brief episodes of abnormal movements associated with GORD. The infants are neurologically normal.
Key Features:
- torticollis: forceful contraction of the neck muscles causing twisting of the neck
- dystonia: abnormal muscle contractions causing twisting movements, arching of the back or unusual postures
The condition resolves as the reflux is treated/improves. Referral to specialist is needed.
Define pyloric stenosis?
Hypertrophy of the pyloric sphincter causes functional obstruction and prevents food travelling from the stomach to the duodenum as normal.
After feeding, waves of peristalsis try to push the food into the duodenum. When this food can’t enter the duodenum because of the stenosis, the food is ejected into the oesophagus and out of the mouth.
What are the features of pyloric stenosis?
- presents in the first few weeks of life
- hungry baby
- thin, pale, failure to thrive
- if examined after feeding, peristalsis can be seen by observing the abdomen
- a firm, round mass can be felt in the upper abdomen –> caused by the hypertrophic muscles of the pylorus
- blood gas analysis will show a hypochloric, metabolic alkalosis as the baby is vomiting the hydrochloric acid from the stomach (COMMON DATA INTERP. QUESTION IN EXAMS!)
Management of pyloric stenosis?
Diagnosis made using abdominal ultrasound to visualise thickened pylorus
Treatment involves laparoscopic pyloromyotomy
Define Hirschprung’s disease?
A congenital condition where nerve cells of the myenteric plexus are absent in the distal bowel and rectum
What is the myenteric plexus?
This nerve plexus runs all the way along the bowel in the bowel wall –> contains neurones, ganglion cells, receptors, synapses & neurotransmitters. It is responsible for stimulating peristalsis of the large bowel.
What is the pathophysiology of Hirschprung’s?
Absence of parasympathetic ganglion cells. During foetal development these cells start higher in the GI tract and migrate down to the distal colon/rectum. Hirschsprung’s occurs when the parasympathetic ganglion cells do not travel all the way down to the colon and a section of colon at the end is left without these parasympathetic ganglion cells.
The aganglionic section of colon does not relax, causing it to become constricted leading to obstruction. Proximal to the obstruction, the bowel becomes distended and full.
What are the genetic associations with Hirschsprung’s?
Family history increases risk of Hirschsprung’s
- Down’s Syndrome
- Neurofibromatosis
- Waardenburg syndrome
- Multiple endocrine neoplasia type II
Presentation of Hirschsprung’s?
Can present with acute intestinal obstruction shortly after birth or more gradually developing symptoms
Features:
- delay in passing meconium (>24hours)
- chronic constipation since birth
- abdominal pain & distention
- vomiting
- poor weight gain & failure to thrive
What is Hirschsprung associated enterocolitis?
Inflammation & obstruction of the intestine occurring in around 20% of neonates with Hirschsprung’s disease. Typically presents within 2-4weeks of birth with fever abdo distention and diarrhoea, & features of sepsis
What are the causes of anaemia in infancy?
- physiologic anaemia of infancy
- anaemia of prematurity
- blood loss
- haemolysis
- twin to twin transfusion (where blood is unequally distributed between twins that share a placenta)
What are the causes of haemolysis in infancy?
- haemolytic disease of the newborn
- hereditary spherocytosis
-G6PD deficiency
What is physiologic anaemia of infancy?
- normal dip in Hb around 6-9 weeks of age in healthy term babies
- high oxygen delivery to the tissues caused by the high Hb levels @ birth can cause negative feedback
- production of erythropoietin by the kidneys is suppressed and so there is reduced Hb production by the bone marrow
What is anaemia of prematurity?
Premature neonates are more likely to become anaemic because:
- less time in utero receiving iron from the mother
-red blood cell creation cannot keep up with the rapid growth in the first few weeks
- reduced erythropoietin levels
-blood tests remove a significant portion of their circulating volume
What is haemolytic disease of the newborn?
- a cause of haemolysis and jaundice in neonates*
- it is caused by incompatibility between the rhesus antigens on the surface of red blood cells of the mother and foetus
Describe rhesus blood types
- rhesus antigen is a protein on the surface of RBCs
- rhesus positive means rhesus antigens are present
- rhesus negative refers to the absence of the rhesus antigen
- if people who are rhesus negative receive blood that contains the rhesus antigen, the body produces an immune response that will destroy red blood cells containing the rhesus antigen
-rhesus negative individuals should only receive rhesus negative blood
- rhesus positive individuals can receive blood form anybody
What is sensitisation & and how does rhesus blood typing affect pregnancy
Sensitisation is when the baby’s rhesus positive blood mixes with the maternal blood stream and the mother’s immune system produces rhesus antibodies against the rhesus positive blood cells
- the antibodies activate the babies own immune system against the red blood cells resulting in haemolytic disease of the foetus and newborn
- it takes time to develop so the mother’s first baby is usually not affected
When do mother’s and baby’s blood mix?
- blood does not cross the placenta unless*
-abdominal trauma
-miscarriage (especially after 12 weeks)
-termination of pregnancy
-amniocentesis or chorionic villus sampling procedure
- PV bleeding at any point in the pregnancy
- mixing of blood occurs at birth
these scenarios are known as sensitising events and the process is sometimes called alloimunisation
What is the management of rhesus sensitisation?
- rhesus sensitisation can be prevented if Rh(D) immune globulin (more commonly known as Anti-D) is given at the time of any sensitising event.
- at birth, the newborn is tested for blood group, if rhesus positive, then Anti-D is given to the mother at birth
- if testing is unavailable, a dose of anti-D should be given to the mother at birth regardless
Previously sensitised mothers:
- any mother who is negative should have the Coombs test
- if positive Coombs test, perform anti-body titres
- confirms mother is producing rhesus antibodies and the baby should be screened for anaemia
-USS of the middle cerebral artery of the foetus can detect anaemia
- foetal blood tests carries risks
What are the causes of anaemia in older children? (2 key & 6 rarer)
2 key:
- iron deficiency anaemia secondary to dietary insufficiency
- blood loss, most frequently from menstruation in older girls
other:
-sickle cell
-thalassaemia
-leukaemia
-hereditary spherocytosis
-hereditary elliptocytosis
-sideroblastic anaemia
worldwide: common cause of blood loss leading to chronic anaemia and iron deficiency is helminth infection
What are the three main categories for anaemia?
microcytic –> low MCV indicating small RBCs
normocytic –> normal MCV indicating normal sized RBCs
Macrocytic –> large MCV indicating large RBCs
Causes of microcytic anaemia?
TAILS:
Thalassaemia
Anaemia of chronic disease
Iron deficiency anaemia
Lead poisoning
Sideroblastic anaemia
Causes of normocytic anaemia
3As and 2Hs
Acute blood loss
Anaemia of chronic disease
Aplastic anaemia
Haemolytic anaemia
Hypothyroidism
Causes of macrocytic anaemia?
Can be megaloblastic or normoblastic
Megaloblastic: result of impaired DNA synthesis preventing the cell from dividing normally so just keeps growing into a large cell
Megaloblastic causes:
- B12 deficiency
- folate deficiency
Normoblastic:
- alcohol
- reticulocytosis
- hypothyroidism
- liver disease
- drugs eg azathioprine
Generic symptoms of anaemia?
Tiredness
Shortness of breath
Headaches
Dizziness
Palpitations
Worsening of other conditions
Generic signs of anaemia
Pale skin
Conjunctival pallor
Tachycardia
Raised respiratory rate
Signs of specific causes of anaemia
Koilonychia: spoon shaped nails, iron deficiency
Angular cheilitis: iron deficiency
Atrophic glossitis: smooth tongue due to atrophy of the papillae and can indicate iron deficiency anaemia
Brittle hair/nails: iron deficiency anaemia
Pica/hair loss: iron deficiency (from zohaib <3 u)
Jaundice: haemolytic anaemia
Bone deformities: thalassaemia
Define thalassaemia
Thalassaemias are autosomal recessive disorders of Hb, causing structural deficiencies in Hb molecules –> type of haemoglobinopathy
Heterozygous forms are common and usually minor
Homozygous forms are rare but cause a severe anaemia of childhood and can be fatal without treatment
What are the two classifications of thalassaemia?
Alpha thalassaemia: defects in the alpha globin chains, gene coding for this protein is on chromosome 16)
Beta thalassaemia: defects in the beta globin chains, gene coding for this protein is on chromosome 11)
Simple pathophysiology of thalassaemia
The RBCs are broken down more easily and are more fragile. The spleen acts as a sieve to filter the blood and remove older blood cells leading to splenomegaly. The bone marrow expands to produce extra RBCs to compensate for the chronic anaemia leading to a susceptibility to fractures & prominent features eg pronounced forehead and malar eminence (cheek bones)
Signs and symptoms of thalassaemia?
Microcytic anaemia (low MCV)
Fatigue
Pallor
Jaundice
Gallstones
Splenomegaly
Poor growth & development
Pronounced forehead and malar eminence
Signs and symptoms of thalassaemia?
Microcytic anaemia (low MCV)
Fatigue
Pallor
Jaundice
Gallstones
Splenomegaly
Poor growth & development
Pronounced forehead and malar eminence
How do you diagnose thalassaemia?
FBC: microcytic anaemia
HB electrophoresis: used to diagnose globin abnormalities
DNA testing: can show genetic abnormalities
What is iron overload (in thalassaemia?)
Occurs as a result of the faulty creation of RBCs, recurrent transfusions & increased absorption of iron in the gut in response to anaemia.
Patients with thalassaemia have serum ferritin levels monitored to check for iron overload
Symptoms: fatigue, liver cirrhosis, infertility, impotence, heart failure, arthritis, diabetes, osteoporosis & joint pain
Management: iron chelation (pharmacological agents bind to the extra iron and allow it to be excreted)
How is alpha thalassaemia managed?
Monitoring FBC
Monitoring for complications
Blood transfusions
Splenectomy may be performed
Bone marrow transplant may be curative
How is beta thalassaemia classified?
Thalassaemia minor
Thalassaemia intermedia
Thalassaemia major
What is thalassaemia minor?
Patients are carriers of an abnormally functioning beta globin gene –> one normal & one abnormal
Causes a mild microcytic anaemia & usually just needs monitoring
What is thalasssaemia intermedia?
Patients will have 2 abnormal copies of the beta globin gene –> either 2 defective genes or 1 defective & 1 deletion gene
Causes a significant microcytic anaemia requiring monitoring & occasional blood transfusions. May need iron chelation
What is thalassaemia major?
Patients are homozygous for the deletion genes & have no functioning beta globin genes. It is the most severe form and usually presents with severe anaemia and failure to thrive in early childhood.
Symptoms: severe microcytic anaemia, splenomegaly and bone deformities
Management: regular transfusions, iron chelation & splenectomy. Bone marrow transplant may be curative
What is sickle cell anaemia?
Genetic condition caused by a mutation in the gene encoding the Hb subunit beta, encoded by the beta globin gene. It is inherited in an autosomal recessive with HbAS individuals being carriers and HbSS individuals being affected by the disease
Pathophysiology of sickle cell anaemia
Hb is made up of 4 globin chains surrounding 4 haem molecules
-HbS allele results from a single nucleic acid substitution from GAG to GTG in the beta globin gene
-causes glutamic acid to be substituted with valine
Carriers have the genotype HbAS
Sufferers have the genotype HbSS
-the base pair substitution in the mutated HbS haemoglobin makes it prone to sickling –> becomes rigid and sickle shaped
-in the deoxygenated state, the HbS tetramers bind to each other and begin to polymerise, growing into long fibres which distort the shape of the RBC
-this contributes to vaso-occlusion and chronic haemolysis
What are the risk factors for sickle cell anaemia?
Ethnicity –> black background eg Black African, Black Caribbean
How is sickle cell related to malaria?
More common in patients from areas traditionally affected by malaria. Having one copy of the gene reduces the severity of malaria –> selective advantage to having the sickle cell gene in areas where malaria is endemic
What are the clinical features of sickle cell anaemia?
Acute pain from vaso-occlusion
Dactylitis (painful inflammation of a finger or toe, usually first presentation of disease in a child)
Family history –> parent diagnosed with sickle cell or unknown carrier
On examination:
- pallor/lethargy due to anaemia
- juandice due to haemolysis
- fever
- tachycardia/tachypnoea
- digital redness/swelling & pain due to inflammation
What is a sickle cell crisis?
Umbrella term for a spectrum of acute crises related to the condition. Can occur spontaneously or be triggered by stresses such as infection, dehydration, cold or significant life events
No specific management for sickle cell crises and are managed supportively
Name some of the sickle cell crisis conditions
Vaso-occlusive crisis
Splenic sequestration crisis
Aplastic crisis
Acute chest crisis
What is a vaso-occlusive crisis?
Caused by the sickle shaped blood cells clogging the capillaries and causing distal ischaemia
- it is associated with dehydration and raised haematocrit
- symptoms are typically pain, fever and those of the triggering infection
- it can cause priapism in men where blood is trapped in the penis –> urological emergency
What is a splenic sequestration crisis?
Caused by RBCs blocking blood flow within the spleen causing an acutely enlarged and painful spleen
-pooling of blood within the spleen can lead to severe anaemia and circulatory collapse
-management is supportive with blood transfusion & fluid resuscitation to treat anaemia and shock
What is an aplastic crisis?
- a situation where there is temporary loss of the creation of new blood cells
- most commonly triggered by parvovirus B19
- leads to significant anaemia
- management is supportive with blood transfusions if necessary
What is acute chest syndrome?
A dx of acute chest syndrome requires:
- fever or respiratory symptoms with
-new infiltrates seen on a chest x-ray
Can be due to: infection eg pneumonia/bronchiolitis or non infective causes eg pulmonary vaso-occlusion or fat emboli
Medical emergency with high mortality. Requires prompt supportive management & treatment of the underlying cause –>
- antibiotics/antivirals for infections
-blood transfusions for anaemia
-incentive spirometry
-artifical ventilation may be required
What is haemophilia?
Describes a group of rare bleeding disorders caused by a congenital defect in the production of specific clotting factors.
Describe the 2 types of haemophilia
Haemophilia A: X-linked recessive (so in order to have the condition, all of the X chromosomes need to have the abnormal gene). Caused by a deficiency in Factor VIII
Haemophilia B: also X linked recessive. Caused by a deficiency in Factor IX
What are the signs and symptoms of heamophilia A&B?
Patients can bleed excessively in response to minor trauma and are also at risk of spontaneous haemorrhage without any trauma.
Most cases present in neonates and early childhood –> can present with intercranial haemorrhage, haematomas & cord bleeding in neonates
Spontaneous bleeding into joints (haemoarthrosis) and muscles are a classic feature of severe haemophilia –> worth remembering for exams!!
Abnormal bleeding can occur in other areas:
- gums
- gastronintestinal tract
- urinary tract causing haematuria
- retroperitoneal space
- intercranial
- following procedures
What are the investigations for haemophilia?
FBC: anaemia but all other components should be normal (rule out thrombocytopenia)
Coagulation screen:
- APTT: activated partial thromboplastin time is prolonged. APTT demonstrates the speed of coagulation by the intrinsic pathway of the clotting cascade
- PT: prothrombin time would be within normal range. PT demonstrates the speed of coagulation by the extrinsic pathway
Factor VIII conc.: will be low in haemophilia A
Factor IX conc.: will be low in haemophilia B
Other: CT head if suspected intercranial bleed, joint imaging/aspiration if suspected haemarthrosis
Management of haemophilia?
2 components of haemophilia management: prophylaxis & management of bleeds when they occur
Mild to moderate disease: prophylaxis not usually required. Management is usually focused on treating bleeds when they occur.
Acute episodes of bleeding: infusions of relevant factor, desmopressin to stimulate release of von Willebrand factor & antifibrinolytics eg TXA
Prophylaxis: reserved for patients with severe form of the disease. Regular IV infusions of the relevant factor.
Education for the family in managing bleeding along with lifestyle advice eg good dental hygiene and avoiding contact sports.
Complications of haemophilia
- chronic arthropathy: chronic joint disease that occurs secondary to recurrent bleeds within the joints
- development of factor VIII or IX inhibitors: patients who receive clotting factors develop antibodies against them, making treatment of the haemophilia less effective
- transfusion related complications: allergic reactions, acute haemolytic reaction, bacterial infection and transmission of blood borne viruses
What is Fanconi anaemia?
An autosomal recessive disorder in which there is decreased production of RBC, WBC & platelets due to bone marrow failure. Can cause problems with the immune system, increased risk of infection and can lead to bleeding problems. People with FA may have stature, upper limb malformations and an increased incidence of AML
What is Von Willebrand disease?
Most common inherited cause of haemophilia
What causes Von Willebrand’s?
It is caused by deficiencies in a protein called Von Willebrand factor which helps to prolong the life of factor VIII in the clotting cascade
What is the cause of Von Willebrand’s?
It is caused by deficiencies in a protein called von Willebrand factor which helps to prolong the life of factor VIII in the clotting cascade
How do patients with Von Willebrand’s present?
Depends on the extent of the disease:
-bleeding from the mucosa eg epistaxis, menorrhagia (in women with no gynaecological cause)
-spontaneous bleeding –> including joints and other internal organs
-in severe VWD: spontaneous mucosal bleeding or death secondary to massive GI haemorrhage
Pathophysiology of VWD?
- Von willebrand factor important in platelet adhesion and factor VIII transport
- it helps attract circulating platelets to the site of bleeding
- it binds to factor VIII and prevents it being cleared from plasma
Describe VWD type 1?
- Decreased concentration of von willebrand factor, most common cause
- Often autosomal dominant
- quantitative deficiency (aka reduced levels of the factor)
- normal lifespan
- occasional easy bruising
- may have increased risk of belleding after dental procedures and surgery
Describe VWD type 2?
- qualitative deficiency –> normal quantities are produced but it is defective
- autosomal dominant or autosomal recessive inheritance
- less common
- sub classified according to the defect in the von willebrand factor (2a, 2b, 2m, 2n)
- bleeding tendency varies depending on the type
Describe VWD type 3?
- near complete absence of von willebrand factor
- least common
- autosomal recessive inheritance
- mimics haemophilia
- severe mucosal bleeding
- may present with severe haemoarthrosis
What are the investigations for VWD?
Patients with mild disease will go unnoticed. Patients who present with abnormal bleeding should be investigated:
FBC: blood count normal except for a moderate reduction in platelets in some with type 2
APTT prolonged
PT usually normal
Diagnosis: quantitative immunoassay/electrophoresis
Factor VIII levels low
What is the management of VWD?
Avoid NSAIDs & anti-platelet drugs
Minor bleeds don’t require any specific treatment
More severe bleeds:
- pressure
- TXA can be given orally & is available as a mouthwash, and IV infusion for severe cases
- desmopressin can be used in severe bleeds & can be given IV or intranasally
- consider oral pill for women with menorrhagia
- factor VIII concentrates with von willebrand factor
What is idiopathic thrombocytopenic purpura?
A condition characterised by idiopathic (spontaneous) thrombocytopenia causing a pupuric rash
What causes ITP?
It is caused by a hypersensitivity II reaction. It is caused by the production of antibodies that target and destroy platelets.
How does ITP present?
Usually present in children under 10 years old, often there is a history of a recent viral illness. The onset of symptoms occurs over 24-48 hours:
-bleeding eg from gums, epistaxis, or menorrhagia
- bruising
- petechial or purpuric rash
How is ITP managed?
The condition can be confirmed by doing an urgent full blood count for the platelet count. Other values on the FBC should be normal apart from ↓↓ platelet count
- other causes of low platelet count should be excluded eg heparin induced thrombocytopenia and leukaemia
Usually no treatment required and patients are monitored until platelets return to normal
Severe thrombocytopenia/active bleeding:
- prednisolone
- IV immunoglobulins
- blood transfusions
- platelet transfusions only work temporarily
Complications of ITP?
Chronic ITP
Anaemia
Intracranial & subarachnoid haemorrhage
GI bleeding
What is acute pyelonephritis?
When an infection affects the tissue of the kidney. It can lead to scarring in the kidney tissue and lead to a reduction in kidney function
What is cystitis?
Means inflammation of the bladder → can be as a result of a bladder infection
What are lower UTIs?
UTIs affecting the urethra and bladder
What are upper UTIs?
UTIs affecting the renal pelvis and kidneys
List some bacterial causes of UTIs
E Coli (most common cause)
Klebsiella
Staph saprophyticus
What are the risk factors for UTI?
Age <1 year
Female
Caucasian
Previous UTI
Voiding dysfunction
Vesicoureteral reflex (this is the reflex of urine from the bladder into the ureter)
Sexual abuse → can cause urinary symptoms but infection is uncommon
Spinal abnormalities
Constipation
Immunosuppression
Symptoms of UTI in children < 3 months/unable to talk?
Vomiting
Fever
Lethargy
Poor feeding
Failure to thrive
Symptoms of UTI in older children?
Increased frequency
Painful urination
Dysfunctional voiding
Changes in continence
Abdo pain
loin tenderness
Less common: vomiting, fever, malaise, haematuria, smelly urine etc
Describe and explain the results of a urine dipstick in UTIs?
Ideal urine sample is a clean catch to avoid contamination
Nitrites: gram neg bacteria eg E Coli break down nitrates (normal waste product) into nitrites
Leukocytes: WBCs. Normally a small number of WBCs in the urine. A significant rise can be the result of infection or another cause of inflammation
Nitrites are a better indicator of UTI than leukocytes → if only nitrites are present treat as UTI, if both are present treat as UTI, but if only leukocytes present, only treat as UTI if clinical indication
How is a UTI managed?
All children under 3 months with a fever should start immediate IV abx eg ceftriaxone and have a full septic screen including blood cultures, bloods and lactate → lumbar puncture should also be considered
Oral abx can be considered in chidlren >3 months if they are otherwise well. Children with sepsis or pyelonephritis will require inpatient treatment and IV abx
Antibiotic choices:
- trimethoprim
- nitrofurantoin
- cefalexin
- amoxicillin
How should recurrent UTIs be investigated?
Should be investigated for underlying cause and associated renal damage
Ultrasound:
- all children <6 months with their first UTI should have an abdo USS within 6 weeks
- children with recurrent UTIs should have an abdo USS within 6 weeks
- children with atypical UTIs should have an abdo USS during the illness
DMSA (dimercaptosuccinic acid scan)
- should be used 4-6 months after the illness to assess for damage from recurrent or atypical UTIs
- injects DMSA (radioactive material) and using a gamma camera to assess how well the material is taken up by the kidneys
- where there are patches of kidney that have not taken up the material, this can indicate scarring that may be the result of previous infection
Vesico-ureteric reflux
- is where urine flows back from the bladder into the ureters
- can mean the patient is more likely to develop upper UTIs and so renal scarring
- diagnosed using MCUG
- management can be: avoid constipation or avoid excessively full bladder or prophylactic abx or surgery
Micturating cysrourethrogram (MCUG)
- should be used to investigate atypical or recurrent UTIs in children
What is nephritic syndrome?
It is a term describing a set of symptoms and not a pathological condition in itself:
- haematuria
- proteinuria
- hypertension
- uraemia
- oliguria
DIFFERENCE BETWEEN NEPHROTIC & NEPHRITIC IS NEPHRITIC HAS HAEMATURIA
- the proteinuria present is often smaller than in nephrotic syndrome so a co-existent condition of nephrotic syndrome is not usually present
What are urinary and RBC casts?
Cylindrical structures produced by the kidney and present in the urine in certain renal diseases.
The presence of RBC casts are usually associated with nephritic syndrome → the presence of RBCs within a cast is always pathological and strongly indicative of glomerular damage
How does nephritic syndrome sometimes present in children?
Nephritic syndrome can lead to encephalopathy (particularly in children) due to electrolyte imbalances and HTN
What are the causes of nephritic syndrome?
Caused by type III hypersensitivity:
- post strep glomerulonephritis
- IgA nephropathy
- diffuse proliferative glomerulonephritis
Caused by multiple causes
- membranoproliferative glomerulonephritis
- rapidly progressive glomerulonephritis
Caused by a defect in collagen synthesis:
- alport syndrome
Define Minimal change disease, age of onset and what makes it unique
Most common Nephrotic.
Aetiology unknown but associated with Hodgkin’s Lymphoma, leukaemia and NSAID use.
Usually occurs before the age of 8.
Immunoglobulins ARENT excreted in urine (Only Nephrotic with this feature)
Define focal segmental glomerulosclerosis with causes
Focal - Only some glomeruli affected
Segmental - Only part of affected glomeruli affected
Sclerosis - Scarring
Can be idiopathic or secondary to
- HIV
- Heroin
- Lithium
- Lymphoma
Define Membranous nephropathy
Anti-PLA2R antibodies cause disease of glomerular basement membrane. GBM damage causes it to form expansions - “spike and dome” appearance.
Mostly affects white male adults.
What 2 diseases can be both nephritic and nephrotic
Diffuse proliferative glomerulonephritis
Membranoproliferative glomerulonephritis
What hypersensitivity reactions are all the Nephritic syndromes?
All type 3 except Goodpastures
Goodpastures is type 2
Main differential of IgA nephropathy
gA vasculitis/ Henoch-Schonlein purpura
- Systemic and can be nephrotic too.
- Arthritis, skin lesions, Bloody stools, abdominal pain
Define IgA nephropathy
Type 3 hypersensitivity reaction (antigen-antibody deposition)
Abnormal IgA immune deposits accumulate in mesangium of kidney, inciting immune response causing inflammation.
What is hypospadias?
It is a congenital condition that is usually diagnosed on examination of the newborn. It is where the opening of the urethra is abnormally displaced to the underside of the penis
- can be further towards the glans
- halfway down the shaft
- or even at the base of the hsaft
Important differential associated with hypospadias?
Important to eliminate underlying disorder of sex development if associated with unilateral or bilateral undescended testis
How is hypospadias managed?
Referral to a paediatric specialist urologist
Warn parents not to circumcise the infant until a urologist indicates it is ok
Mild cases may not require treatment
Surgery usually performed at 3-4 months of age to correct the position of the opening and straighten the penis → urethroplasty
What are the common groups of brain tumour in children?
- astrocytoma: low & high grade gliomas that develop from glial cells
- medulloblastoma: usually develop in the posterior fossa/cerebellum
- ependymoma: formed from CSF producing ependymal cells
- craniopharyngioma: found at the base of the brain close to the pituitary gland
- germ cell tumours
- choroid plexus tumours
What are the risk factors for developing childhood brain tumours?
- personal or family history of brain tumour, leukaemia, sarcoma or early onset breast cancer
- prior therapeutic CNS irradiation
- neurofibromatosis 1 & 2
- tuberous sclerosis 1 & 2
- other familial genetic syndromes
What are the signs and symptoms of childhood brain tumour?
Symptoms & signs can be changeable and can be part of a broader picture of delayed milestones, neurodevelopmental delay, differential education attainment
- headache: persistent/recurrent, day or night, may disturb sleep, due to mass effect or hydrocephalus from blockage of CSF flow
- nausea/vomiting: due to raised ICP
- behavioural changes: usually due to tumours in the frontal lobe
- polyuria/polydipsia: tumours can stop ADH production causing diabetes insipidus
- seizures: maybe due to neuronal changes or chemical imbalance affecting normal electrical activity in the brain
- altered GCS
O/E:
- visual symptoms eg diplopia, reduced visual acuity/fields, abnormal eye movements or fundoscopy
-motor signs eg abnormal gait or coordination, swallowing difficulties, weakness
- delayed growth
- delayed, arrested or precocious puberty
- increased head circumference if under 2 years old
What are the investigations for brain tumour?
MRI is first line
Contrast enhanced CT if MRI is not possible
What is the management of brain tumour?
Initial management: analgesia, antiemetics, anticonvulsants, fluid/dietary support, treatment to ↓ ICP eg steroids
- surgical steroids: dependent on the location of the tumour
- radiotherapy: as an adjuvant to surgical resection or primary treatment method depending on the histological type
- chemotherapy: commonly used in situations where the tumour cannot be removed completely with surgery. The BBB can be a challenge for chemo as can impair some treatments from reaching their target action site
- proton therapy
- stem cell transplants
What is neuroblastoma?
A cancer derived from neural crest cells typically arising in the adrenal glands or abdominal sympathetic chain. It is the most common cancer in children under 1 year old. It is much less common in those >5 yeards old
What are the genetic associations with neuroblastoma?
Associated with a specific profile of acquired genetic mutations:
MYCN and ALK oncogenes
Loss of function of the tumour suppressor PHOX2B³
What are the clinical features of neuroblastoma?
Can have a diverse range of presenting symptoms with symptoms non specific.
- abdo distension
- fatigue
- appetite loss
- weight loss
- sweating/agitation (increased catecholamine secretion)
- bone pain/recurrent infections (metastasis)
O/E:
- dense abdo swelling which may cross the midline
- may be hypertensive & tachycardic due to excess catecholamine synthesis
- symptoms of metastasis eg a scattered purpura called blueberry muffin rash
Investigations for neuroblastoma?
Look for products of catecholamine breakdown eg homovanillic acid (HVA) or vanillylmandelic acid (VMA) in urine
Imaging: MRI, USS or CT
Definitive test for neuroblastoma is: MIBG scan. Radioactive iodine is injected and 2 scans are taken 24 hours apart. The iodine stays in the tumour so the tumour shows up intensely dark on a scan
Investigations for neuroblastoma?
Look for products of catecholamine breakdown eg homovanillic acid (HVA) or vanillylmandelic acid (VMA) in urine
Imaging: MRI, USS or CT
Definitive test for neuroblastoma is: MIBG scan. Radioactive iodine is injected and 2 scans are taken 24 hours apart. The iodine stays in the tumour so the tumour shows up intensely dark on a scan
How is neuroblastoma managed?
In infants <18 months with low grade staging, the tumour may regress to nothing or a benign ganglioma
Older children or those with aggressive disease: surgery.
If surgery not curative → adjuvant chemo or radiotherapy can be used alongside surgery
What are the 2 most common types of primary childhood bone cancer?
Osteosarcoma
Ewing’s sarcoma
What are the three types of osteosarcoma?
osteoblastic
chondroblastic
fibroblastic
The type depends on how well differentiated the cells are when the oncogenic event occurs
What are the genetic conditions associated with osteosarcoma?
- Li-Fraumeni syndrome
- RB1 mutation
- Rothmund-Thomson syndrome, Bloom syndrome, Werner syndrome etc
What are the clinical features of osteosarcoma?
Pain → usually at the tumour site, although occasionally referred pain as well. Pain is often intermittent, worse at night and resistant to analgesia
Lump
Stiffness or limp
Non specific symptoms eg fatigue, weight loss and headache
What are the investigations for osteosarcoma?
Bloods → FBC, U&E, CRP, ESR, bone profile, lactate dehydrogenase
X-Rays:
- bone destruction
- new bone formation
- periosteal swelling
- soft tissue swelling
Clinical suspicion with persistent bone pain or night pain needs urgent MRI
Staging tests eg MRI, CT, isotope bone scans
Biopsy for definitive diagnosis
What is the management for osteosarcoma?
Surgery: remove tumour, aim for limb reconstruction but amputation may be required. As long as no metastasis, tumour removal is normally curative
Chemo: osteosarcoma is aggressive and ↑ chance of micrometastatic disease so chemo is standard. Chemo before surgery and then chemo after surgery.
- first line chemo in patients under 30 is doxorubicin, cisplatin and high dose methotrexate +/- mifamurtide
What is Ewing sarcoma?
It is a small, round blue cell tumour that most commonly develops in flat bones eg tibia, fibula, femur, pelvis and ribs
What is the common genetic mutation associated with Ewing sarcoma?
Translocation between chromosome 11 and 22
What are the clinical features of Ewing sarcoma?
Bone pain → progressive over time, worse at night, resistant to OTC analgesia
Restricted movement of a joint
Fatigue
Weight loss
Tender palpable mass
Fever
Increased susceptibility to fracture
What are the investigations for Ewing’s?
Bloods: FBC, U&E, LFTs, ↑ ESR, ↑ CRP, ↑ ALP, ↑ LDH and a bone profile
X-Ray: Ewing sarcoma appears as a destructive diaphyseal lesion with layered periosteal calcification
What is the management for Ewing’s?
Chemo: used prior to surgery and post surgery. Chemo regimen is vincristine, doxorubicin, cyclophosphamide and etoposide
Surgery: limb sparing surgery with resection of the tumour and mental implant/bone graft preferred. Amputation if tumour too widely spread
Radiotherapy: can be used before surgery to shrink the tumour, especially in regions that are difficult to resect eg pelvis. Can be used after surgery to destroy remaining tumour & is utilised in individuals where the resection did not remove the entire tumour.
What is osteogenesis imperfecta?
Genetic condition that results in brittle bones that are prone to fractures due to a range of genetic conditions that affect the formation of collagen. 8 types of osteogenesis depending on the underlying genetic mutation and varying in severity.
What are the clinical features of osteogenesis imperfecta?
- hypermobility
- blue/grey sclera
- triangular face
- short stature
- deafness from early adulthood
- dental problems
- bone deformities including bowed legs & scoliosis
- joint & bone pain
Osteogenesis exam tip!
Blue sclera is most commonly associated with osteogenesis imperfecta → exam patient will often be a young child with unusual & recurrent fractures that would normally make you consider safeguarding except they have blue sclera
THINK OSTEOGENESIS
What are the investigations for osteogenesis imperfecta?
It is a clinical diagnosis
X-Rays can be helpful in diagnosing bone fractures and deformities
Genetic testing is possible but not routinely done
How is osteogenesis imperfecta managed?
Medical treatments: bisphosphonates & vitamin D supplements
Management is MDT → physio, occupational therapy, paediatricians, orthopaedic surgeons, specialists nurses & social workers
What is Ricket’s?
It is the childhood version of osteomalacia where defective bone mineralisation causes soft & deformed bones. It is called osteomalacia after fusion of the epiphyseal plates. The condition is characterised by normal bone formation with abnormal bone mineralisation thus there is excess osteoid and cartilage, and insufficient.
What are the causes of Ricket’s?
Caused by a deficiency in vitamin D or calcium.
Renal osteomalacia → results in vitamin D deficiency
Drug induced → particularly with anti-convulsants
Rare form → caused by genetic defects that result in low phosphate in the blood called hereditary hypophosphataemic rickets, with most common form is x linked dominant
How do patients with Ricket’s present?
Symptoms:
- lethargy
- bone pain
- bone deformity
- poor growth
- dental problems
- muscle weakness
- pathological or abnormal fractures
Bone deformities:
- bowing of the legs (outwards)
- knock knees (inwards)
- rachitic rosary where the ends of the ribs expand at the costochondral junctions causing lumps along the chest
- craniotabes (soft skull with delayed closure of the sutures and frontal bossing)
- delayed teeth with under development of the enamel
exam tip- think about the risk factors for vitamin D deficiency
What are the investigations for Ricket’s?
Vitamin D levels: serum 25 hydroxyvitamin D <25nmol/L establishes a diagnosis of vitamin D deficiency
Serum calcium: may be ↓
Serum phosphate: may be ↓
Serum alkaline phosphate: may be ↑
Parathyroid hormone: may be ↑
X-Ray is required to diagnose rickets but must be used in conjunction with PHT and vit D serum levels to confirm diagnosis
NICE suggests additional investigations to look for other pathology:
- FBC/ferritin levels for iron deficiency anaemia
- ESR/CRP
- LFTs & kidney function
- TFT for hypothyroidism
- rheumatoid tests for inflammatory autoimmune conditions
What is the management of Ricket’s?
Prevention: breastfed babies more at risk of vitamin D deficiency so all breastfeeding women & children should take a vitamin D supplement
Vitamin D deficiency: can be treated with ergocalciferol
Define cystic fibrosis
Autosomal recessive condition caused by a mutation in the cystic fibrosis transmembrane conductance regulatory gene on chromosome 7. Leads to thick mucus.
Signs and symptoms of cystic fibrosis?
failure to thrive, meconium ileus, bronchiectasis, hyperinflation of the chest, persistent lung infections, poor weight gain, fatty stools, salty skin, nasal polyps, rectal prolapse
Investigations for cystic fibrosis?
Newborn screening: heel prick test (Guthrie Test)
Sweat test: (gold standard) Pilocarpine is added to a patch of skin on the leg or arm. Electrodes are attached and an electric current is passed through. The skin sweats and the sweat is analysed for chloride concentration → dx is >60mmol/L
Management of cystic fibrosis?
MDT approach
Chest physio, mucolytics, prophylactic abx for chest infections, pancreatic enzymes, high calorie, high fat diets
What are venous hum/Still’s murmur?
Venous hum - Innocent ejection systolic murmur due to turbulent blood flow in the great veins returning to the heart
Still’s- innocent ejection systolic murmur heard at left sternal edge
Characteristics of venous hum/still’s murmur?
Soft blowing (venous hum) or buzzing in aortic area (still’s murmur)
May vary with posture, localised with no radiation, no diastole component, no thrill, no added sounds, asymptomatic child with no other features.
Describe Perthe’s disease?
Degenerative hip disease resulting in ischaemia and avascular necrosis of the femoral head.
Epidemiology of Perthe’s disease?
Age 5-10 years, boys 5x more likely, 10% bilateral
Risk factors for Perthe’s disease?
short stature, obesity, passive smoking, low socio-economic class
Signs and symptoms for Perthe’s disease?
Progressive hip pain over a few weeks with no history of trauma
Limp, stiffness, reduced hip movement, effusion due to synovitis
Investigations for Perthe’s disease?
X-ray:
-early sign: widening of joint space
-later signs: sclerosis, fragmentation and eventually flattening of proximal femoral epiphysis
If x-ray normal- technetium bone scan or MRI
Management for Perthe’s disease?
Most resolve with conservative management eg brace or casting to keep femoral head in place
<6 years= observe
>6 years= surgical mx if severe deformity
Complications of Perthe’s disease?
osteoarthritis, premature fusion of growth plates
Describe slipped upper femoral epiphysis (SUFE)
Rare hip condition, displacement of the femoral head epiphysis postero-inferiorly
Epidemiology of SUFE?
Onset 10-15 years old, usually boys, 25% bilateral
Risk factors for SUFE?
Very tall & thin or short & obese
Afro-carribbean
FHx of SUFE
Signs and symptoms of SUFE?
May occur acutely with trauma, or more commonly chronic, persistent groin/thigh pain
Hip, groin, thigh, knee pain particularly on weight bearing
Externally rotated hip
Limited RoM when abducting or internally rotating the hip
Leg shortening
Investigations for SUFE?
X-ray: AP & lateral. Widening and irregularity of femoral epiphysis plate. Displacement is medial and superior.
Management for SUFE?
Surgical pinning ASAP → internal fixation
Complications of SUFE?
Osteoarthritis, avascular necrosis of femoral head, chondrolysis, leg length discrepancy
Describe Osgood Schlatters disease?
A lump at the tibial tuberosity where the patella tendon inserts. Stress from running and jumping at the same time of the growth in the epiphyseal plate results in inflammation and small avulsion fractures where the patella pulls away some fragments of bone
Signs and symptoms of Osgood Schlatters?
Gradual onset of pain with exacerbation during physical activity/kneeling etc
Visible lump that is hard and painful.
Investigations for Osgood Schlatters?
Clinical dx, may do x-ray to rule out other causes
Management of Osgood Schlatters?
Supportive- rest, ice, NSAIDs
Once symptoms reduced, physio and stretching to regain function
Usually self-limiting leaving a hard and bony bump
Pathophysiology of otitis media?
Bacterial: most common. Secondary to URTI. Strep Pneumoniae, H Influenzae, Moraxella
Signs and symptoms of otitis media?
Otalgia (ear tugging)
Middle ear effusion
Erythema around tympanic membrane, fever, hearing loss, ear discharge (perforation)
Investigations for otitis media?
Otoscopy: loss of light reflex, perforation with purulent otorrhoea
Management of otitis media?
Pain relief and safety netting
Abx- 5 to 7 days of amoxicillin
Abx given if systematically unwell, sx lasting >4 days, immunocompromised, perforation, discharge etc
Complications of toxoplasmosis (TORCH INFECTIONS)?
cerebral calcification
hydrocephalus
cerebral palsy
jaundice
hepatosplenomegaly
Complications of syphilis (TORCH infections?)
saddle nose
deafness
hutchinson’s teeth
keratitis
Complications of varicella-zoster (TORCH infections)?
microphthlamia (small eyes)
limb hypoplasia
microcephaly
learning difficulties
Complications of parvovirus B19 (TORCH infections)?
hydrops fetalis
Complications of rubella (TORCH infections)?
sensorineural deafness
cataracts
congenital heart defects
glaucoma
cerebral palsy
hepatosplenomegaly
Complications of CMV (most common TORCH infection)?
sensorineural deafness
microcephaly
low birth weight
hepatitis
hepatosplenomegaly
purpuric skin lesions
visual impairment
jaundice
anaemia
Complications of herpes simplex (TORCH infection)?
Normally transmitted during delivery
Cutaneous vesicles
meningoencephalitis
limb paralysis/hypoplasia
abnormally diminished muscle tone, hepatitis
Describe ophthalmia neonaturm
Conjunctivitis in babies <30 days. Should be urgently referred to ophthalmology for assessment.
Chlamydia and gonorrhoea normally cause it
Describe the course of chickenpox rash
Prodrome starts with a fever. The rash starts centrally on the torso/face and starts out as a macular rash and then becomes vesicular
Complications of chickenpox?
Secondary bacterial infection of the lesions (NSAIDs can increase this risk)
Group A strep can lead to necrotising fasciitis
pneumonia
encephalitis
disseminated haemorrhagic chicken pox
Investigations for Hirschsprung disease?
Abdo x-ray
DRE → immediate release of stools
Full thickness rectal biopsy (gold standard) shows lack of ganglionic nerves in affected region
Management of Hirschsprung disease?
Surgery- anorectal pull through procedure
Define intussusception?
Invagination of part of the bowel in the lumen of the adjacent bowel
Where does intussusception most commonly happen?
ileo-caecal region
Epidemiology of intussusception?
6-18 months
boys 2x more likely
Associated conditions with intussusception?
Tonsillitis or ear infections → cause lymph nodes in the bowel to swell and act as lead points
Signs and symptoms of intussusception?
Milky → green/yellow vomit
Sausage shaped mass in RUQ
Redcurrant stools
Colicky pain
Infants draw knees up to chest and go pale during paroxysm
Investigations for intussusception?
USS → gold standard, donut or target shaped sign
x-ray → sausage shaped
Management for intussusception?
Fluids
Insufflation/pneumatic reduction via fluoroscopic guidance
Define Meckel’s diverticulum?
Congenital diverticulum of the small intestine, responsible for 50% of all lower GI bleeds in small children
Pathophysiology of Meckel’s diverticulum?
Remnant of the omphalomesenteric duct that remains to term and contains ectopic ileal, pancreatic or gastric mucosa
What is the Meckel’s diverticulum rule of 2?
2% of the population
2 feet from the ileocaecal valve
2 inches long
presents <2 years
Signs and symptoms of Meckel’s diverticulum?
Usually asymptomatic but may have pain similar to appendicitis, rectal bleeding or intestinal obstruction
Investigations for Meckel’s diverticulum?
Meckel’s scan/ technetium scan
In more severe cases, mesenteric arteriography
Management of Meckel’s diverticulum?
Surgery → wedge excision or formal bowel resection and anastamosis
Prenatal causes of cerebral palsy?
Maldevelopment of the brain
Infections
Genetic syndromes
Perinatal causes of cerebral palsy?
Hypoxic injury before or during delivery
Post natal causes of cerebral palsy?
Meningitis
Encephalitis
Head trauma
Hydrocephalus
Hyperbilirubinaemia
Types of cerebral palsy?
Mixed, ataxic, dyskinetic, spasticity (most common)
Signs and symptoms of cerebral palsy?
Red flag- hand preference before 18 months
Failure to meet developmental milestones
Problems with speech, walking, swallowing, feed and learning
Investigations for cerebral palsy?
Clinical dx
MRI to rule out other causes
Management of cerebral palsy?
MDT involvement, physio
Medication:
-spasticity: baclofen/diazepam
-dyskinetic: anticholinergics
Describe testicular torsion?
When spermatic cord becomes twisted, normally due to trauma to the scrotum
Risk factors for testicular torsion
Cold weather, scrotal deformities
Signs and symptoms of testicular torsion?
Sudden onset pain, difficulty walking, nausea and vomiting, inflamed, firm and swollen, abdo pain
Investigations for testicular torsion?
USS: whirlpool sign
Management for testicular torsion?
Urgent surgical exploration
Orchiopexy
Define undescended tests
Testes have not fully descended from the abdo in 1-2 months prior to birth
Risk factors for undescended tests?
SGA
Prematurity
Maternal smoking during pregnancy
Family hx
Signs and symptoms:
Palpable: can be felt in the groin but not manipulated into the scrotum.
Unpalpable: cannot be felt in the inguinal canal, abdo or scrotum
Retractable: can be felt in the inguinal canal and can be manipulated into the scrotum without tension
Investigations for undescended testes?
NIPE- should be picked up during NIPE, arrange for karyotyping if bilaterally unpalpable
Management for undescended testes?
Orchiopexy in first year of life to improve fertility, self examination for malignancy, reduce risk of torsion
Define congenital adrenal hyperplasia?
Group of inherited disorders where the adrenal gland is bigger than normal
Signs and symptoms of congenital adrenal hyperplasia?
Virilisation of external female genitals- clitoral hypertrophy and fusion of the labia
Infant males may have enlarged penis and pigmented scrotum
Present shortly after birth with poor feeding, vomiting, dehydration and arrhythmias
Investigations for congenital adrenal hyperplasa?
Blood tests: hyponatraemia, hyperkalaemia, and hypoglycaemia with metabolic acidosis
Corticotrophin stimulating test
If parents are suspected carriers- amniocentesis, villous sampling
Management of congenital adrenal hyperplasia?
Salt losing crisis: sodium chloride, glucose and hydrocortisone IV
Life long glucocorticoids to suppress ACTH, mineralocorticoid replacement if salt loss, monitor growth and skeletal maturity
Why is delayed puberty more common in males?
Due to the insensitivity of the testes to gonadotrophin hormones.
Causes of delayed puberty?
Family hx (males), low gonadotrophin secretion → crohn’s, anorexia, excessive exercise, Klinefelter, Turner’s
Causes of precocious puberty?
Gonadotrophin dependent → idiopathic, brain tumour, neurodisability
Non-gonadotrophin dependent → ovaria cysts/tumours, congenital adrenal hyperplasia, testicular tumours, adrenal tumours
Signs and symptoms of delayed puberty?
Male: testes <3mL by 14yo
Female: absent breast development by 13yo or absent menarche
Both: absent axillary or pubic hair
Signs and symptoms of precocious puberty?
Male: testes >4mL by <9yo
Female: breast development <8yo or menarche
Investigations into delayed/precocious puberty?
Bloods- detect underlying causes
Hormonal tests
Genetic testing
Pelvic USS
Management for delayed/precocious puberty?
Treat underlying cause
Delayed
-males= IM testosterone >14
-females= oestradiol
Precocious
GNRH analogue, reduce rate of skeletal maturity
Management of kawasaki’s?
High dose aspirin
IV immunoglobulins
What is Henoch-Schonlein purpura (HSP)?
IgA vasculitis- inflammatory disease caused by IgA deposits in the blood vessels
Epidemiology of HSP?
peaks in winter months, often preceded by URTI, more common in males, most common in children <10yo
Signs and symptoms of HSP?
Purpura: starts on legs and spreads to buttocks but can affect trunk and arms
Joint pain: affecting knees and ankles
Abdo pain: colicky
Renal involvement
How is HSP diagnoses?
At least one of:
diffuse abdo pain, arthritis or arthralgia, IgA deposits on histology (biopsy), proteinuria/haematuria
Investigations for HSP?
Other ix to exclude other problems eg FBC, blood film, U&Es, serum albumin (nephrotic syndrome), CRP and cultures
Management of HSP?
Supportive- can use steroids
monitor
What condition of prematurity can cause a ground glass appearance on a CXR?
Neonatal respiratory distress syndrome
Antibodies linked with coeliac disease?
Anti-tissue transglutaminase (Anti TTG)
Anti-endomysial (Anti-EMA)
Which parts of the bowl are affected with coeliac disease?
Small bowel- particularly the jejunum
Symptoms of coeliac?
Failure to thrive, diarrhoea, vomiting, weight loss, mouth ulcers, anaemia, dermatitis herpetiformis (itchy rash on abdo)
Genetic associations with coeliac?
HLA DQ2
HLA DQ8
Investigations and diagnosis of coeliac disease?
Biopsy: crypt hypertrophy, atrophy of the villi
Total IgA antibodies
and then check for anti ttg and anti ema
Conditions associated with coeliac disease?
T1DM
Thyroid disease
T21
Autoimmune hepatitis
Primary biliary cirrhosis
Primary sclerosing cholangitis
Complications of untreated hepatitis?
Vitamin deficiency
Anaemia
Non-hodgkin’s lymphoma
Enteropathy associated T cell lymphoma of the intestine
Osteoporosis
Ulcerative jejunitis
Small bowel adenocarcinoma
What is biliary atresia?
It is a congenital condition where part of the bile duct is absent, leading to cholestasis and a build up of conjugated bilirubin
Signs and symptoms of biliary atresia?
Prolonged jaundice eg persisting for more than the first 14 days
Other signs of bile obstruction eg pale greasy stools or very dark urine
Investigations for biliary atresia?
Blood tests: conjugated bilirubin will be raised and deranged LFTs
Management of biliary atresia?
With surgery- the kasai portoenterostomy
Red flags in a child with a limp?
Unable to weight bear
Fever
Systemic illness
Severe pain
Limp or pain worsening
Pain waking the child at night
Redness, swelling and stiffness
Weight loss or anorexia
Presentation of transient synovitis of the hip?
Often occur within a few weeks of viral illness
Acute or gradual onset of a limp, refusal to weight bear, groin or hip pain, mild low grade temperature
Should not have systemic illness
