Paediatrics PTS Flashcards
What are the 4 fields of development?
Gross motor
Fine motor and vision
Speech, hearing and language
Social, emotional and behavioural
What is the difference between median age and limit age for developmental milestones?
The median age is when half of a standard population of children reach that level of development
The limit age is the age a child is expected to have acquired a particular skill/reached a particular milestone
Limit age is usually 2 standard deviations from the mean
What are the median and limit ages for walking?
Median – 12 months
Limit – 18 months
How should you adjust developmental milestones for prematurity?
Age correct up to 2 years of age
For example a 9 month old baby who was born 2 months early – should only be expected to be at the developmental stage of a 7 month old
Should vaccinations also be adjusted for prematurity?
No
Vaccinations must be given according to chronological age
Babies born < 28 weeks should receive their first set of immunisations in hospital due to risk of apnoea
What are the primitive reflexes?
Moro – startle – symmetrical extension and flexion of the limbs if you suddenly lower them backwards
Grasp – grabbing and object placed in their hand
Rooting – turning head towards stimulus placed near mouth
Stepping
Positive supporting reflex (legs push up against gravity when placed)
Atonic neck reflex
When should the primitive reflexes have diminished by?
4-6 months
If they haven’t – could be a sign of cerebral palsy
When should a baby be able to sit unsupported?
6 months
When should a child be able to make a mature pincer grip?
10 months
When should a child be able to draw a line, circle, cross, square and triangle?
Line – 2 years
Circle – 3 years
Cross – 4 years
Square – 4.5 years
Triangle - <5 years
NB – these drawing skills are being able to draw without being shown how it’s done, they can copy (draw after being shown) 6 months earlier
When should a child start to express a 2-3 words in addition to mama and dada?
12 months
When should a child be able to talk in sentences?
2.5 – 3 years
At what age should a child start smiling?
6 weeks
At what age should a child be toilet trained during the day?
2 years
At what age do children start playing with someone else interactively?
3 years
BEFORE 3 YEARS – it’s normal for a child to play by themselves
After 3 years you would expect them to start sharing/interacting, so may worry if they struggle with playing with others > 3 years
When do children have their hearing checked?
Newborn hearing screening
Hearing screening when they start school
If the parents are concerned about their hearing
Up to which age is it normal to be able to see a squint in a child?
Newborns may appear to squint when looking at near objects
By 12 weeks – NO SQUINT should be present at all
When is vision screening performed?
Pre-school children
School entry
What are some causes of developmental delay?
Genetic – chromosomal abnormalities, brain malformation
Congenital hypothyroidism
Teratogenic medications during pregnancy
Infections during pregnancy
Hypoxic brain injury during birth
History of meningitis
Head trauma (accidental or non-accidental)
Brain hypoxia due to near-drowning, seizures
Unknown
What are some genetic causes of severe visual impairment?
Congenital cataracts
Albinism
Retinal dystrophy
Retinoblastoma
Define strabismus
Misalignment of the visual axes
Also known as squint
What is the most common cause of squint?
Failure to develop binocular vision due to refractive errors of the eyes
(can also be caused by cataracts, retinoblastoma and other intra-ocular problems that must be excluded)
What are the 2 divisions of squints?
Non-paralytic (concomintant, common) – usually due to refractive error, often treated by glasses but may require surgery
Paralytic (rare) – due to paralysis of the motor nerves. When rapid onset, can be sinister i.e. due to underlying SOL
What tests can be done to detect a squint?
Corneal light reflex test – shine a pen torch in the eyes, the reflection of the light should appear in the same position in both eyes. If not, there may be a squint
Cover test – cover the good eye and the squinting eye will move. Perform close (33cm) and distant (6m) as some squints are only present at once distance
What are the refractive errors seen in childhood?
Hypermetropia
Myopia
Amblyopia
What are hypermetropia and myopia, and why are they important to correct early?
Hypermetropia – long sightedness (more common)
Myopia – short sightedness (uncommon and less likely to lead to permenant visual damage)
Correct early to avoid amblyopia – irreversible damage to vision
What is amblyopia?
Also known as LAZY EYE
Potentially permanent loss of visual acuity in an eye that has not received a clear image
Usually affects one eye
What causes amblyopia?
Any interference with visual development:
Squint
Refractive errors
Ptosis
Cataract
How is amblyopia treated?
Glasses to correct any visual impairment
Patching of the ‘good’ eye to force the lazy eye to work
Early treatment is essential – after 7 years, improvement is unlikely
Considerable support given to children and parents – children do not like having the eye patched
Name some of the ways in which visual impairment can present in childhood?
Loss of red reflex (i.e. from a cataract)
White reflex in the pupil (retinoblastoma, cataract, ROP)
Not smiling responsively by 6 weeks
Lack of eye contact with parents
Random eye movements
Failure to fix and follow
Nystagmus
Squint
Photophobia
How can you treat strabismus?
Conservative – glasses, orthoptic exercises to improve control over eye muscles
Surgery:
Strengthening procedure – resection
Weakening procedure – recession of the muscle on the side the eye goes towards
Esotropia (eye pointing inwards) – strengthen lateral rectus by resection, recession of the medial rectus
Exotropia – opposite
Botox injections – paralyse the muscle that is pulling the eye in a certain direction
Describe some possible behavioural changes that may present as a result of hearing loss
Appears to daydream
Sits near the TV and turns the volume really loud
Watches the speaker’s face closely for clues
Misunderstands/slow in responding
Answers questions incorrectly
Soft/fuzzy speech
Doesn’t turn immediately when name called
Aggressive
Slowly schoolwork/grades start to get worse
What are the 2 categories of hearing loss and the underlying pathology behind them?
Conductive hearing loss – an obstruction in the ear canal preventing sound from getting through (often reversible)
Sensorineural hearing loss – nerve damage (progressive, never reversible)
What are the causes for conductive hearing loss in children?
Most common - congestion behind the eardrums (e.g. with a cold)
Glue ear
Ear wax
Middle ear infection
Perforated ear drum
Structural abnormality of the outer ear – i.e. with certain syndromes
What are some risk factors for conductive hearing loss?
Down’s syndrome
Craniofacial syndromes
Cleft palate
If you performed a test with a vibrating tuning fork in someone with conductive hearing loss, what would you find?
Better hearing through bone conduction
How do you manage conductive hearing loss?
Most are self-limiting (i.e. inner ear infection/cold)
ENT referral – insertion of grommets to help drain excess fluid out of the middle ear
Hearing aids if they have a permanent cause for the hearing loss
What are some causes of sensorineural hearing loss?
Unknown in many cases
Genetic/ syndromal
Perinatal cause – trauma, infection, hypoxia at birth
Congenital infections – rubella, CMV
Meningitis – pneumococcus can cause ossification of the cochlear
Premature babies – increased risk
If you were to perform a vibrating tuning fork test on someone with sensorineural hearing loss, what would you find?
Hearing is NOT better through bone
On audiology - hearing loss worse in the higher frequencies
How do you manage sensorineural hearing loss?
Hearing aids
Cochlear implants
Aim = raise the level of hearing so that as much speech is audible as possible
Which cases are cochlear implants reserved for?
Profound hearing loss (> 90 decibels)
High frequency
Bilateral hearing loss
Meningitis hearing loss
What are some long term effects of hearing loss?
Developmental delay – particularly in speech and language
Behavioural problems – too loud or too quiet
Impact on education
Impact on friendships and social life
Impact on emotions/psychosocial impact
Name some members of the MDT involved in child development services?
Paediatrician
Physiotherapist
Occupational therapist
SALT
Dietician
Nurses
Health visitor
Psychologist
Family therapist - for difficult cases
Social worker
Key worker
Teachers and school nurse may also be involved
What is the role of the MDT service for child development?
Help liaise between home and school and the child’s care needs
Assess the child’s functional ability and need
To provide therapy where needed
To provide psychosocial support to the family
To ensure health needs of the child are met
What is Down’s syndrome?
Trisomy 21
A chromosomal abnormality in which there are 3 copies of chromosome 21, rather than 2 copies
Leads to specific learning difficulties and dysmorphic features
What is the main risk factor for Down’s syndrome?
Increasing maternal age
What are the 3 causes/mechanisms by which Down’s syndrome can arise?
Non-Disjunction – 94%
Unbalanced Robertsonian Translocation - 4%
Gonadal mosaicism – 1% (milder phenotype)
What is non-disjunction?
An error in meosis 1
Pair of chromosome 21s fail to separate – so one gamete has 2 chromosome 21s and one has none
Fertilisation of the gamete with 2 chromosome 21 gives rise to a zygote with trisomy 21
Parental chromosomes do not need to be examined
Related to maternal age
47 chromosomes in Karyotype
What is a translocation and which chromosome is often involved in trisomy 21?
Extra copy of chromosome 21 joined onto another chromosome – usually chromosome 14
These children will have 46 chromosomes on a karyotype – but 3 copies of chromosome 21 material (it’s just that one portion of it is tacked onto chromosome 14)
Parental chromosome analysis is needed – one parent is a carrier in 25% of cases
Translocation carriers have 45 chromosomes on karyotype (one of the 21s is in the wrong place)
What are some classic appearance features seen in someone with Down’s syndrome?
Flat bridge of nose
Flat occiput
Wide space between the eyes
Small mouth and hence apparently large tongue (‘pseudo macroglossia)
Single palmar crease
Eyes slanting down and inwards
What are some medical conditions that people with Down’s syndrome are more at risk of?
Complete atrioventricular septal defect – echo needs to be performed on all down’s syndrome babies
Hypothyroidism
Duodenal atresia
Hypotonia
Later in life – Alzheimer’s disease
How is Down’s syndrome screened for antenatally?
Risk score calculated based on serum markers and nuchal translucency
Diagnostic testing can be offered if there is a high risk score – amniocentesis or chorionic villus sampling
How do you manage a child with Down’s syndrome?
Multidisciplinary team involvement
Cardiology – perform echo to look for AVSD
Endocrinology – increased risk of hypothyroidism
Childhood disability services
SALT
Physio
Special educational needs school
Liaison between school, healthcare and family imperative
What are some clinical features associated with Edward’s syndrome (trisomy 18)?
Low birthweight
Prominent occiput
Small mouth and chin
Short sternum
Flexed, overlapping fingers
Rocker-bottom feet
Cardiac and renal malformations
Microcephaly
90% die in first year
What are some clinical features of Patau syndrome (trisomy 13)?
Structural defect of brain (often single lobed)
Scalp defects
Small eyes (microphthalmia)
Cleft lip and palate
Polydactyly (too many fingers and toes)
Cardiac and renal malformations
Not compatible with life
How are Patau’s and Edward’s syndrome diagnosed?
Often antenatally - abnormalities detected on USS, risk score comes back high for trisomy
Prenatal diagnosis – amnio or CVS
Karyotype genetic analysis confirms diagnosis at birth
What is Turner’s syndrome?
A chromosomal condition in which females only inherit one copy of the X chromosome, rather than 2 copies
Should be 46, XX
Turner’s = 45, X or 45 XO
What are some clinical features of Turner’s syndrome?
Female
Short stature
Webbed neck
Infertility/primary amenorrhoea
Delayed puberty
Wide spaced nipples
What congenital heart defect is associated with Turner’s syndrome?
Coarctation of the aorta
How is Turner’s syndrome diagnosed?
Clinical suspicion
Diagnosis confirmed on karyotyping (45, XO)
How is Turner’s syndrome managed?
Growth hormone therapy
Oestrogen replacement for development of secondary sexual characteristics at the time of puberty
Infertility – can be managed with IVF
What is Klinefelter’s syndrome?
A genetic condition in which males inherit an extra copy of the X chromosome – meaning their karyotype is 47, XXY when it should be 46, XY
What are the clinical features of Kleinfelter’s syndrome?
Male
TALL stature
Infertility – most commonly presents in this way in adult life
Delayed puberty – lack of pubic hair etc.
Gynaecomastia in adolescence
How do you treat Kleinfelter’s syndrome?
Testosterone replacement
1 injection/month for life
Promotes the development of sexual characteristics
What is fragile X syndrome?
An inherited form of learning disability due to a trinucleotide repeat expansion on the X chromosome
Affects males more than females as females have protection from their other X chromosome
Females have a milder phenotype
What are the clinical features of fragile X syndrome?
”cocktail personality” – happy, bouncy children
Macrocephaly
Large ears
Learning difficulties/autism
Joint laxity
Large testes
Hypotonia
Mitral valve prolapse
How would a diagnosis of Fragile X syndrome be confirmed?
FISH testing (fluorescence in situ hybridisation) – to look at the content of the cells
What is DiGeorge syndrome?
Abnormal branchial arch development
Leading to problems with the heart, thymus and palate
What are the clinical features of DiGeorge syndrome?
CATCH 22 :
C – cardiac
A – abnormalities
T – thymus hypoplasia (T cell dysfunction 🡪 primary immune def.)
C – cleft palate
H – hypocalcaemia
22 – defect = chromosome 22 material deletion
Which types of cardiac abnormalities are seen in DiGeorge syndrome?
Truncus arteriosis
Tetralogy of Fallot
Interrupted aortic arch
Coarctation
Vascular ring around trachea 🡪 stridor
What investigations should be done in someone with suspected DiGeorge syndrome?
T-cell count
CXR – do this in any patient with recurrent infections to look for the thymus
Anyone with congenital cardiac disease – test for DiGeorge
What is Noonan’s syndrome?
They look like the boy version of Turner’s
Short stature
Webbed neck
Ptosis
Hypothyroidism
Pulmonary stenosis
Hypogonadism
What is Marfan’s syndrome?
A connective tissue disorder
Caused by fibrillin deficiency
What are some clinical features of Marfan’s syndrome?
Arachnodactyly – spider fingers
Aortic dilatation 🡪 aneurysm 🡪 dissection
Lens dislocation
Long arms and legs
High arched palate
Lax/hypermobile joints
What regular investigation is important in someone with Marfan’s syndrome?
Echocardiogram – check for dilatation of the aorta – needs fixing to prevent aortic dissection
Which type of connective tissue abnormality is associated with Ehler-Danlos syndrome?
Elastin defect
So affects collagen (skin etc.)
What are the signs and symptoms of Ehler-Danlos syndrome?
Stretchy skin
Able to touch thumb back down to the radius side of their arm
Excessive bruising (weak collagen in blood vessels)
Tissue fragility
Brain aneurysms
“cigarette paper scars” – shiny and thin scars on the skin
Poor healing
What are the types of Mendelian inheritence?
Autosomal dominant
Autosomal recessive
X-linked
Y-linked
What is the chance of inheriting an autosomal dominant condition from an affected parent?
50%
Give some examples of autosomal dominant conditions
Adult polycystic kidney disease
Familial hypercholesterolaemia
Marfan’s syndrome
Huntington’s disease
Some cancers – BRCA (ovarian, breast)
Give 3 reasons why someone may have an autosomal dominant condition but a negative family history?
Most common reason = non paternity
New mutation
Gonadal mosaicism
What is the risk of inheriting an autosomal recessive condition from 2 carrier parents?
1 in 4 (25%)
What is the risk that a sibling of a child affected with an autosomal recessive condition is a carrier?
2 in 3 carrier risk for unaffected siblings
because you TAKE AWAY the possibility of them being affected
So you are left with 3 possibilities – the 50% chance they are a carrier and the 25% chance they are not
So out of these 3 choices – they are 2x more likely to be a carrier than not – so it’s a 2 in 3 risk
THIS MAY WELL COME UP IN THE EXAM SO LEARN IT
What is the population carrier risk for CF?
1 in 25
What is a big risk factor for autosomal recessive conditions, particularly in people with an Asian origin?
Consanguineous parents
Particularly in families with many generations of consanguinity – can give the appearance of an autosomal dominant pedigree for a recessive condition
General rule for autosomal dominant vs recessive conditions
Dominant = structural protein defects
Recessive = affects metabolic pathways
What transmission patterns (i.e. male to male/male to female) would be seen in an X-linked recessive condition?
NO male to male transmission (so if you see 2 male squares shaded in 2 consecutive generations on a pedigree, it’s not X linked)
Every affected male will produce a carrier female
If the mother is a carrier:
50% sons = affected
50% daughters = carriers
Give some examples of X-linked recessive conditions?
Duchenne’s and Becker’s
Some types of albinism
Haemophilia A
Fragile X syndrome
What are the types of non-mendelian inheritance?
Multi-factorial/polygenic inheritance
Imprinting and uniparental disomy
Mitochondrial inheritance
Give an example of a disease which has multifactorial inheritance?
Combination between the pre-disposing genes and the lived environment
Spina bifida
We know that folic acid deficiency is linked to spina bifida
We also know that you have a higher risk if you had a sibling with spina bifia
Explain what imprinting and uniparental disomy is?
For most genes both copies are expressed
Some genes only are maternally or paternally expressed- this is called IMPRINTING
Prader-Willi and Angleman’s syndrome are both caused by either cytogenetic deletions of the same region of chromosome 15q or by uniparental disomy of chromosome 15 (where both copies of 15 come from the same parent)
What is the chromosomal abnormality in Prada-Willi syndrome?
Chromosome 15
Syndrome occurs when failure to inherit the active paternal gene occurs
So they either inherit 2 COPIES FROM MUM or an abnormal copy from dad
What are the clinical features of Prada-Willi syndrome?
Hypotonia (even from neonatal age)
Learning difficulties
Obesity (due to hyperphagia)
Small genitalia
What is Angelman’s syndrome?
Chromosome 15 abnormality
Failure to inherit the active maternal gene
2 COPIES FROM DAD
Or abnormal copy from mum
What are the clinical features of Angelman’s syndrome?
Severe learning difficulty
Ataxia
Broad based gait
Characteristic facial appearance
Epilepsy
“Happy puppet” – unprovoked laughing/clapping
Microcephaly
How is DNA analysis performed?
DNA PCR (polymerase chain reaction)
What are the main roles of DNA analysis in genetic counselling?
Confirmation of a clinical diagnosis
Detect female carriers for X-Linked disorders
Detect carriers in autosomal recessive disorders (e.g. siblings of CF patients)
Pre-symptomatic diagnosis of autosomal dominant disorders (e.g. Huntington’s disease)
What would you say to a parent with known Huntington’s disease if they asked you to test their child for the presence of the gene because they want to know if their child will get the disease?
Sorry this is not an option
Genetic testing for diseases in this way will not be performed on healthy children - need to wait until they are old enough to give informed consent for this procedure themselves
What is the role of a clinical geneticist?
Involved in making diagnoses
To explain the diagnosis to the family
Discuss prognosis
Discuss options available e.g. genetic testing, screening, prenatal diagnosis
Refer to appropriate specialists for management
What are the main reasons for a referral to genetic counselling?
Preconception advice for someone with a family history of a genetic disorder
Antenatal – finding out about a disorder during pregnancy
From paeds – developmental delay, dysmorphic features
Carrier testing in known family history
Adult onset conditions – advice about whether or not they should get the test if their parent had the disease
Post mortem – unexplained death to look for genetic cause
What are the congenital infections to be aware of?
TORCHS:
T - Toxoplasmosis
O – Other (HIV)
R - Rubella
C – CMV
H - HSV
S – Syphillis
Or CHRIST – CMV, HSV, rubella, Syphillis, toxoplasmosis
What treatment do you give to a pregnant lady with syphillis?
IM BenPen
What treatment do you give to a pregnant lady with toxoplasmosis?
Catch it from cat poo
Treatment – spiromycin
What are some complications of measles?
Encephalitis
Subacute sclerosing pan-encephalitis
Febrile convulsions
Giant cell pneumonia
Diarrhoea
Appendicitis
Myocarditis
What is Perthe’s disease and how does it present?
Degenerative condition of the hip jint due to avascular necrosis of the femoral head
More common in boys
Features – hip pain (which can present as knee pain!), limp, shortening of the affected leg, pain on internal and external rotation of the hip
Imaging – flattening of the femoral head
What is the classic presentation of Hirshprung’s disease?
Failure to pass meconium
Symptoms of bowel obstruction – abdominal distention, bilious vomiting
Failure to thrive/low birthweight/size
PR EXAMINATION CAUSES STOOL EJECTION
5x more common in boys
What is the definitive diagnosis for Hirschsprung’s disease?
Rectal biopsy
What complications can occur to the foetus if the mother is infected with rubella during the pregnancy?
Congenital cataracts
Congenital heart disease
Sensorineural deafness
How are these complications prevented?
MMR vaccine
If you see a pregnant lady – make sure to check she has had the MMR vaccine
What is the main complication to worry about if a pregnant woman has cytomegalovirus?
90% of babies will be normal at birth
However 5% may develop sensorineural hearing loss later in life
Are pregnancy women screened for CMV?
No
There is no vaccine and no antiviral therapy for CMV so screening is not appropriate
How is toxoplasmosis typically caught?
Eating infected meat
Contact with infected cat faeces
Pregnant women not screened
What are the consequences of infection with toxoplasmosis during pregnancy?
Most infants born are asymptomatic
Retinopathy
Cerebral calcification
Hydrocephalus
Long term neurological disabilities
What are the risks of chickenpox (varicella zoster) to the foetus during pregnancy?
< 20 weeks – risk of skin scarring and neurological damage
2 days before or 5 days after delivery – high viral load (foetus unprotected by maternal antibodies) – mortality 30%
How should a pregnancy women who has been exposed to chickenpox be treated?
VZIG (varicella zoster immunoglobulin)
Acyclovir
Is maternal syphilis screened for during pregnancy?
YES
So is HIV and hepatitis B
How is maternal syphilis treated during pregnancy and what are the long term complications for the baby?
Penicillin
If fully treated a month or more before delivery – infant doesn’t require any treatment and has a good prognosis
If any doubt of adequate maternal treatment – infant also treated with penicillin
How much is an Apgar score out of?
10
NORMAL = between 7 and 10
What factors are considered when giving an Apgar score?
Cardio
Respiratory
Colour
Reflexes
Tone
What is the purpose of the NIPE examination?
Detect congenital abnormalities not already identified at birth (e.g. heart disease, DDH)
Check for potenital problems that could arise due to family history (i.e. mum or dad)
Provide an opportunity for parents to ask questions about the baby
What are some common findings on a NIPE examination?
Congenital heart disease
Developmental dysplasia of the hip (DDH)
Talipes (club feet) – positional or true
Down’s syndrome
Cleft lip and palate
Urogenital – hypospadias, undescended testes
Spina bifida
What are some common cardiac issues affecting premature babies?
Structural heart defect
Patent ductus arteriosus
Anaemia of prematurity
What are some common respiratory problems affecting premature infants?
Surfactant deficiency 🡪 risk of respiratory distress syndrome
Chronic lung disease of prematurity (bronchopulmonary dysplasia) - more prone to pneumonia and viruses – give them palivizumab to protect against RSV
Pneumothorax
Apnoea, bradycardia and desaturation
What are some common GI problems in premature babies?
Necrotising enterocolitis – underdeveloped gut bacteria, leads to gut become swollen and pedematous and risk of perforation (red, shiny, tender abdomen on babies) – breast milk protective
Feeding problems/nutrition – slower establishment of feeding, unable to suck and swallow until 33-34 weeks so will need IV. Build feeds up slowly to reduce the risk of NEC
What are some common metabolic issues in preterm babies?
Hypoglycaemia – due to lack of glycogen stores developed
Hypocalcaemia – kidneys and parathyroid not fully developed
Electrolyte and fluid imbalance and hypothermia – excess losses through thin skin
Osteopenia of prematurity
What are some neurological problems that preterm babies are at risk of?
Long term neurological issues
Apnoea of prematurity – as the brain stem is not fully myelinated until 32-34 weeks so the pontine respiratory centre is not fully developed
Intraventricular haemorrhage – diagnose with cranial USS
What are the main infections that affect babies?
Preterm babies in general are more prone to infections
Group B strep
E.coli and other gram negatives
Fungal infections –candida
Viral infections – herpes caught from genital tract during delivery
What eye problems affect premature infants and what is thought to be the cause of this?
Retinopathy of prematurity
Occurs due to hyperoxic insult whilst the blood vessels are still developing (i.e. premie babies are given oxygen because they are struggling to breathe and this ends up damaging their eyesight)
What is normally the cause of neonatal infection < 48 hours and >72 hours?
< 48 hours – infection generally from the birth canal
> 72 hours – source of infection is usually from the environment (catheters for nutrition, tracheal tubes, skin breaking procedues e.g. drawing blood) – most commonly coagulase negative strep (epidermidis)
What are some risk factors for early onset infection in neonates?
Prolonged rupture of membranes
If mother has fever during labour or develops one shortly after birth
If the infant is pre-term
If mother is GBS+Ve or has another genital tract infection
What’s the main risk factor for developing late onset neonatal infections?
Being on ICU or NICU – possibility of exposure to pathogens and cross contamination
What are the clinical features of neonatal sepsis?
Fever/hypothermia/temperature instability
Poor feeding
Vomiting
Apnoea and bradycardia
Respiratory distress
Abdominal distention
Jaundice
Irritability
Seizures
Lethargy/drowsiness
How does Group B strep infection tend to present?
Pneumonia
Septicaemia
Occasionally meningitis
Mortality 10%
Which women are considered high risk for GBS infection and are therefore screened SELECTIVELY (i.e. not everyone is screened)?
Pre-term delivery
Previous baby with GBS infection
Prlonged rupture of membranes
Fever >38 during labour
Intrapartum antibiotics given to these high risk ladies if possible
Where can listeria monocytogenes infection be caught from?
Unpasterised milk
Soft cheese
Undercooked poultry
Can cause miscarriage, pre-term delivery and foetal infection
How to manage conjunctivitis and sticky eyes in newborns?
Common and usually only needs cleaning with water or saline
If more troublesome discharge – could be due to staph or strep infection – treat with neomycin eye ointment
Gonococcal infection – purulent discharge, 48 hours after birth, gram stain, treat with penicillin or 3rd gen cephalosporin, cleanse frequently
Chlamidya trachomatis eye infection – purulent, 1-2 weeks of age, idenfity with immunoflourescent staining, treat with oral erythromycin for 2 weeks
How should an infant born to a HBsAg positive mother be treated?
Hepatitis B vaccine shortly after birth to prevent vertical transmission
Complete vaccine course during infancy and check antibody response
What is the septic screen done for infants presenting with signs of sepsis?
Chest X ray
Urine sample
Lumbar puncture – CSF sample
Blood cultures
Full blood count
U&Es
What should your immediate action be in child presenting with signs of sepsis?
Perform a septic screen
Commence treatment without waiting for the culture results
Which antibiotics would you prescribe?
IV Broad spec and gram +ve and gram -ve cover:
Beta lactam (e.g. Amoxicillin) for gram +ve
Aminoglycoside (e.g. gentamycin) for gram –ve
If cultures negative and child clinically well after 48 hours then Abx can be stopped
Why is it important to treat jaundice in neonates?
To prevent kernicterus
This is bilirubin induced encephalopathy caused by unconjugated bilirubin being deposited in the brain
This happens because babies blood brain barriers are not well developed so allow bilirubin to cross the blood brain barrier
What may cause neonatal jaundice?
Physiological jaundice
Infection
Haemolysis/haemolytic anaemia
Metabolic disease
How common is neonatal jaundice?
60% of neonates experience it
What are the causes of jaundice starting <24 hours of age?
Congenital infection
Haemolytic disorders:
Rhesus incompatibility
ABO incompatibility
G6PD deficiency
Spherocytosis
Pyruvate deficiency
What are the causes of jaundice between 24 hours and 2 weeks of age?
Physiological
Breast milk jaundice
Infection e.g. UTI
Haemolysis e.g. G6PD deficiency, ABO compatibility
Bruising
Polycythaemia
Crigler-Najjar syndrome (rare inherited disorder which affects bilirubin metabolism)
What are the causes of jaundice at >2 weeks of age?
Unconjugated:
Physiological or breast milk jaundice
Infection (particularly UTI)
Hypothyroidism
Haemolytic anaemia (e.g. G6PD def.)
High gastrointestinal obstruction
Conjugated:
Bile duct obstruction (e.g. biliary atresia)
Neonatal hepatitis
What is physiological jaundice?
No underlying cause behind mild or moderately jaundiced babies
Bilirubin rises as the infant is adapting to transition from foetal life – babies red blood cells have a shorter lifespan (70 days) than adult (120 days), so increased blood cell destruction leads to higher amount of circulating bilirubin
Hepatic bilirubin metabolism is less efficient in the first few days of life
Can only be called physiological after other causes have been considered and ruled out
Which type of infection in particular tends to present as neonatal jaundice?
Urinary tract infection
Investigate – urine sample, blood cultures, CXR, FBC
Which type of jaundice is most worrying in neonates?
Persistent/prolonged jaundice
Most jaundice between 2 days – 3 weeks is physiological
However prolonged is more likely to be something sinister
What would the parents complain of in a jaundiced infant?
Looks slightly yellow on their skin or eyes
Often only visible when outside in the sunlight
If prolonged jaundice was caused by biliary atresia or another type of cholestasis, what other associate symptoms would there be?
Pale stools
Dark urine
Probably off feeds and general unwell in themselves
Possible itching/scratch marks on the skin
What investigations should be done on a child presenting with jaundice?
Serum bilirubin level
Transcutaneous bilirubin measurement
If suspicious of biliary atresia (i.e. prolonged jaundice, pale stools, dark urine) – ultrasound scan of the liver is the gold standard for diagnosis
What factors need to be taken into consideration when assessing a jaundiced baby?
Age of onset (prolonged is often more worrying)
Severity of jaundice
Rate of change
Gestation - preterm infants more susceptible
Clinical condition – pyrexia, hypothermic etc.
How can jaundice be treated?
Phototherapy
Blue-green (450nm wavelength)
Converts unconjugated bilirubin into harmless water-soluble pigment by photodegradation
No long term sequealae
Cover the infants eyes
Side effects – temp. instability, rash, bronze discolouration
Exchange transfusion
If bilirubin levels are too high to be treated with phototherapy
How does neonatal hypoglycaemia present?
Jitteriness
Irritability
Apnoea
Lethargy
Drowsiness
Seizures
What are some risk factors for neonatal hypoglycaemia?
Preterm infants – lack of glycogen storage
IUGR infants - lack of glycogen stores
Babies born to diabetic mothers – have hyperinsulinaemia in response to maternal hyperglycaemia
Large for dates
Polycythemia
Unwell for any reason
What precautions need to be taken in babies at risk of neonatal hypoglycaemia?
Regular blood glucose monitoring at bedside
Prevent by early and frequent milk feeding
If needs treating – IVI dextrose via central venous catheter
What is the role of a growth chart in paediatrics?
To assess whether a child’s overall height is abnormal - i.e. below the 2nd or above the 98th centile
To assess whether a child is failing to follow their growth potential – i.e. dropping below a centile line
To assess whether a child is loosing/gaining weight quickly – which could be a sign of pathology (assessed by seeing how they drop/rise above the centile lines)
How is mid-parental height calculated?
For boys – ((Dad + mum height in cm)/2) + 7
For girls – ((Dad + mum height in cm)/2) – 7
What is the first sign of puberty in girls?
Breast development (thelarche)
Usually occurs between 8.5 and 12.5 years
Menarche occurs on average 2.5 years after the start of puberty
What is the first sign of puberty in males?
Testicular enlargrment >4ml in volume (measured using a Prader Orchidometer)
Usually occurs between 10 —14 years of age
What are the normal ages of onset of puberty for girls and boys?
Girls – between 8 and 12
Boys - between 9 and 13
What is considered early puberty in boys and girls? Which are you more worried about?
Early in girls - < 8 years
Early in boys - < 9 years
More worried about early puberty in boys – most common cause is a brain tumour (e.g. pituitary adenoma)
In girls, early puberty is much more common
What is considered late puberty in boys and girls? Which is more worrying?
Girls - > 13 years
Boys - > 14 years
More worrying in girls – can be a sign of abnormal karyotype such as Turner’s or primary ovarian failure
What is the definition of short stature?
Height below the 2nd centile
What are the causes of short stature?
Familial – i.e. short parents, and they fall in the range of their mid-parental height
IUGR and extreme prematurity
Constitutional delay of growth and puberty
Endocrine – GH deficiency/panhypopituitarism, steroid excess (Cushing’s), Hypothyroidism
Syndromes – Down’s, Turner’s, Noonan’s
Chronic illness and failure to thrive
Psychosocial deprivation
Skeletal dysplasias – disproportionate limb and back length
How do you investigate a child with short stature?
Serial measurements plotted on growth chart
Calculate mid-parental height
Bone age scan – wrist X ray
FBC, U&E
Pituitary function tests (growth hormone testing)
Dexamethasone suppression test – Cushing’s syndrome
Thyroid function tests
Karyotype
Coeliac antibodies (endomysial antibodies and anti-TTG)
What is the definition of tall stature?
Height above the 98th centile
What are some causes of tall stature?
Familial – tall parents
Obesity
Syndromes – Marfan’s syndrome
Hyperthyroidism
Precocious puberty
Congenital adrenal hyperplasia
Excess growth hormone secretion – true gigantism (and then after puberty 🡪 acromegaly)
What are some causes of precocious puberty in females?
Breast development before 8 years
Usually idiopathic or familial
Can occasionally be from late presenting CAH
What are some causes of precocious puberty in males?
Secondary sexual characteristics before 9 years
Uncommon
Usually brain tumour
CAH
Gonadal tumour
How would you investigate precocious puberty?
Full history including ages that parents went into puberty
Ultrasound scan of uterus and ovaries
Boys – MRI brain
How do you treat precocious puberty?
Boys – treat underlying cause
Girls – if they are ok with it, leave them alone. If they aren’t then can give them GnRH analogues to stop the puberty progressing further until she is ready
What are some causes of delayed puberty in females?
Absence of pubertal development by 14 years
Constitutional delay (mum and sisters also started late)
Systemic disease – Crohn’s, organ failure, CF
Hypothalamic causes – stress, anorexia, excessive athletic training
What is the most common cause of delayed puberty in boys?
Absence of pubertal development by 15 years
Usually familial/constitutional delay – their dad was also a late bloomer. Can give them testosterone to kick start the process if it’s really distressing to them
Can also be due to chronic disease e.g. Crohn’s, CF, coeliac etc.
How to treat delayed puberty?
Identify and treat any underlying pathlogy
Reassure
Testosterone for boys
Oestradiol for girls
What is the role of anti-Mullerian hormone?
Produced by the sex-determining region of the Y chromosome
Role = to prevent mullerian duct from persisting and instead encourgae development of the Wolffian duct – i.e. stops the foetus from being female and instead makes it male
What is congenital adrenal hyperplasia?
A condition in which there is reduced production of cortisol (+/- aldosterone)
Most commonly due to 21 hydroxylase deficiency
The cortisol and aldosterone pre-cursors are instead converted into testosterone (which in girls causes virilisation of the external genitalia)
The reduced amount of circulating cortisol triggers a negative feedback response causing more ACTH to be released from the anterior pituitary
This then stimulates the adrenal gland to grow – hence hyperplasia
What mode of inheritance is CAH?
Autosomal recessive
What is a large risk factor for CAH?
Consanguineous parents
How does CAH present?
In female babies – ambiguous genitalia (clitoral enlargement, fusion of the labia)
In male babies – if they are “salt losers” – salt-losing adrenal crisis
VOMITING, WEIGHT LOSS, FLOPPINESS, CIRCULATORY COLLAPSE
In non salt losing male babies – precocious puberty, tall stature, large muscles
Females may also have precocious puberty (if they have not already present with ambiguous genitalia)
What would the biochemical abnormalities be in a salt-losing CAH baby?
Low plasma sodium
High plasma potassium
Metabolic acidosis
Hypoglycaemia
How do you treat a baby in a CAH salt losing crisis?
IV saline
IV dextrose
IV hydrocortisone
How is CAH treated?
Affected females – corrective surgery for the external genitalia as soon as possible
Internal genitalia should not be corrected until puberty/sexually active as they will need to use vaginal dilators to keep the passage patent
Medical treatment – lifelong hydrocortisone (glucocorticoid replacement) and in the salt-losers lifelong fludrocortisone (mineral corticoid replacement)
NaCl may also need adding before weaning
Sick day adjustment of cortisol
What investigations need to be done in babies born with ambiguous genitalia?
Determine karyotype
Adrenal and sex hormone levels
Ultrasound scan of the internal structure and gonads
Difference between glucocorticoid and mineralocorticoid?
Glucocorticoid = cortisol. Controls glucose
Mineralocorticoid = aldosterone. Controls salt, which is a mineral!
What are the advantages of breastfeeding?
Has the optimum macronutrients needed for the baby
Contains maternal antibodies to protect against infection
Free
Helps the mum lose the baby weight
“breast feeding contraception”
Helps maternal and baby bonding
Reduces the risk of NEC in preterm infants
Can help reduce risk of post-menopausal breast cancers
What are the disadvantages of breastfeeding?
Mum has to do all the feeds unless she expresses breastmilk
Unknown intake so hard to quantify what baby is eating
Breast milk jaundice
Transmission of drugs/infections from mum to baby
Can be painful for the mother
Can be upsetting if the baby doesn’t want to feed
Insufficient vitamin D and K in breastmilk – importance of introduction of solids at 6 months (for vit D) and vit K – injection at birth
Define failure to thrive
Failure to gain adequate weight or achieve adequate growth at a normal rate for age OR suboptimal weight gain in infants and toddlers
Can also be weight/growth faltering
Serial measurements on growth charts is needed for the diagnosis to be made
How can mild and severe failure to thrive be quantified/classified?
Mild = fall across 2 centile lines on growth chart
Severe = fall across 3 centile lines on growth chart
How can you differentiate a child who is constitutionally small from a child who is failing to thrive?
Consider the overall clinical picture, a normal child will have:
No symptoms – will be happy, alert, responsive, normal milestones
Parents that are also short
May have been extremely premature
What are some non-organic causes of failure to thrive?
MOST CHILDREN failing to thrive will be due to non-organic cause
Any form of socioeconomic deprivation
Maternal factors – depression, poor understanding of the baby’s needs
Poor housing
Poverty
Inadequate social support/lack of extended family
Neglect/abuse
Inadequate calorie intake (under-nutrition)
What are some organic causes of failure to thrive?
Impaired suck/swallow leading to inadequate intake – cleft palate, neuro-motor dysfunction, CP
Cardiac disease – breathlessness during feeding
Malabsorption – coeliac, CF (due to pancreas dysfunction), food intolerance, short gut syndrome
Chronic illness – renal, liver, cardiac disease
Excessive calorie loss – vomiting (GORD, pyloric stenosis), protein losing enteropathy (IBD, infections, SLE)
Increased calorie requirements – malignancy, thyrotoxicosis, CF
Chromosomal abnormalities – e.g. Down’s syndrome
How would you manage a child who is “failing to thrive”?
Full history – including social factors especially – look into their home environment and get an idea of how well the parents are coping
Examination – look for signs on examination (heart murmur, abdominal distention, cough/chestiness of CF)
Blood tests – FBC, U&E, inflammatory markers, coeliac antibodies, TFTs
Chest XR and sweat test – looking for CF in particular
How to you approach treating failure to thrive?
Increase support for the parents if inorganic cause – health visitor, primary care involvement, education about nutrition
Paediatric dietician
SALT if suck/swallow problem
If there is a chronic disease (cardiac, CF) – involve a specialist cardiac or respiratory paediatrician
Social services
Nursery placement may help
Hostpial admission may be necessary for period of assessment
If organic – identify and treat underlying cause
What is the most common surgical cause of acute abdominal pain in children?
Appendicits
UNCOMMON UNDER 3 YEARS OF AGE
What is the most common cause of intestinal obstruction in the neonatal period?
Intussusception
Usually between 2 months – 2 years
Usually occurs at the ileocecal valve
What are the causes of acute abdominal pain in children?
Acute appendicitis
Non-specific abdominal pain and mesenteric adenitis
Intussusception
Meckel’s diverticulum
Malrotation
ALWAYS THINK ABOUT MEDICAL CAUSES – lower lobe pneumonia, DKA, hepatitis, pyelonephritis
IN BOYS – check for testicular torsion and strangulated inguinal hernia
What are the symptoms of acute appendicitis?
Abdominal pain – initially central and colicky, then localising to the RIF (from localised peritoneal inflammation)
Anorexia
Vomiting (usually only a few times)
What are the signs of acute appendicitis?
Flushed face with bad breath
Low-grade fever (37.2-38 *C)
Abdominal pain aggravated by movement
Persistent tenderness with guarding in the RIF (McBurney’s point)
Rebound tenderness demonstrable on abdominal examination - sometimes this may be unimpressive but get them to cough, walk or jump and this should elicit the localised pain from peritoneal inflammation
Rovsing’s sign – LIF pressure causes RIF pain
What is the clinical presentation of non-specific abdominal pain and mesenteric adenitis?
Non-specific abdominal pain = pain which resolves in 24-48 hours
Pain less severe than appendicitis
Tenderness (and its position) variable
Often accompanied by URTI with cervical lymphadenopathy
What is the clinical presentation of intussusception?
Paroxysmal, severe, colicky pain
Child becomes pale and draws up legs during episodes of pain
Sausage shape mass often palpable in abdomen
Inconsolable crying
Passage of “redcurrant jelly stool”
Abdominal distention
Shock
Vomiting
What is the clinical presentation of Meckel’s diverticulum?
Severe rectal bleeding – neither bright red or true melena
Can present as intussusception
Can present as volvulus (bowel obstruction)
Can present as diverticulitis which mimics appendicitis
How does malrotation present?
Usually presents in first 1-3 days of life with intestinal obstruction
May present at any age with volvulus causing obstruction and ischaemic bowel
Clinical features
Bile or blood stained vomiting
Abdominal pain
Tenderness – from peritonitis or ischaemic bowel
What is the gold standard diagnosis for appendicitis?
CT scan of the abdomen
How is a definitive diagnosis of mesenteric adenitis made?
Laparotomy or laparoscopy showing normal appendix and large mesenteric lymph nodes
What is the gold standard diagnosis for intussusception?
Ultrasound scan – shows a “target sign”
Other investigations - XR abdomen – distended small bowel and no gas distally
How would you investigate suspected malrotation?
Urgent upper GI contrast study
Need to do this whenever these is blood or bile stained vomiting
How do you treat appendicitis?
Appendicetomy
How do you treat NSAP and mesenteric adenitis?
Leave alone
In some children – appendicetomy may performed if symptoms persist, at which point mesenteric adenitis can be definitively diagnosed
How do you treat intussusception?
Aggressive fluid resuscitation
Reduction via air enema – try to “blow” the telescoping portion of the bowel outwards. USS guidance during this procedure
Laparotomy if air enema doesn’t work
How do you treat Meckel’s diverticulum?
Fluid resus if needed
Surgical resecetion
How do you treat malrotation?
Urgent surgical correction
How do you define recurrent abdominal pain?
Recurrent pain, sufficient to interrupt normal activities
Lasting for at least 3 months
What are the causes of recurrent abdominal pain in paediatrics?
Gastrointestinal - IBS, constipation, non-ulcer dyspepsia, abdominal migraine, gastritis, PUD, IBD, malrotation, coeliac disease
Gynaecological – dysmenorrhoea, ovarian cysts, PID, always carry out pregnancy test if sexuall active
Liver – hepatitis
Pancreatitis
UTI
Psychosocial – bullying, abuse, stress etc.
What is the clinical presentation of IBS?
Change of bowel habit
Sensation of intra-abdominal events (bloating etc.)
Pain – often worse before and relieved by defecation
Mucousy stools
Bloating
Feeling of incomplete defecation
Constipation/diarrhoea/mixed picture
How does non-ulcer dyspepsia present?
Epigastric pain
Postprandial vomiting
Belching
Bloating
Early satiety
Heartburn
What are the symptoms of abdominal migraine?
(classic cranial migraines often associated with abdo pain along with the headaches, and in some children the abdo pain predominates)
The pain is
Midline
Paroxysmal
Associated with facial pallor
Usually family history of migraine
What are some worrying signs/symptoms that may occur alongside recurrent abdominal pain that may indicate organic disease?
Epigastric pain at night, haematemesis - duodenal ulcer
Diarrhoea, weight loss, growth failure, blood in stools – IBD
Vomiting – pancreatitis
Jaundice – liver disease
Dysuria, secondary enuresis – urinary tract infection
Vomiting and abdominal distention – malrotation
How should recurrent abdominal pain be investigated?
Guided by clinical features
Essential to do urine MC&S as UTI can cause abdo pain
Endoscopy if dyspeptic symptoms
Colonoscopy if any rectal bleeding or lower abdominal symptoms
IBS – diagnosis of exclusion
How is IBS treated?
Can talk to a dietician about possible exclusion diets to see if any particular food aggrevates symptoms
Manage stress
Antispasmodics (for the pain) – i.e. mebeverine
Anti-diarrhoea – loperamide
Laxatives if they are suffering constipation
How is non-ulcer dyspepsia treated?
If H.Pylori – needs eradicating with triple therapy
How is abdominal migraine treated?
Pizotifen – a serotonin receptor antagonist
Used as prophylaxis in children with frequent, severe symptoms
What is the definition of posseting?
Non-forceful return of small amounts of milk
Usually accompanied by wind
Occurs normally in nearly all babies
What is regurgitation?
Non-forceful return of milk
Larger, more frequent losses than possetting
Usually indicates gastro-oesophageal reflux
What is the definition of vomiting?
Forceful ejection of gastric contents
What are the causes of vomiting in infants?
Reflux (very common)
Feeding problems
Infection (gastroenteritis, whooping cought, UTI, meningitis)
Dietary protein intolerances
Intestinal obstruction (pyloric stenosis, atresia, Hirshprung’s, malrotation, intussusception etc.)
Inborn errors of metabolism
CAH
Renal failure
What are the causes of vomiting in pre-school children?
Gastroenteritis
Other infections (kidneys, septicaemia, meningitis)
Appendicitis
Intestinal obstruction (intussusception, maloration, volvulus, adhesions)
Raised ICP
Coeliac disease
Renal failure
Inborn errors of metabolism
Torsion of testis
What are the causes of vomiting in school age children/adolescents?
Gastroenteritis
Other infection – kidneys, septicaemia, meningitis
Peptic ulcers
Appendicitis
Migraine
Raised ICP
Coeliac
DKA
Alcohol/drugs
Cyclical vomiting syndrome
Bulimia
Pregnancy
Testicular torsion
What are some diagnostic clues in the vomiting infant?
Bile stained – exclude intestinal obstruction
Blood in the vomit – oesophagitis, peptic ulcer, oral/nasal bleeding, malrotation
Projectile vomiting in the first few weeks of life – exclude pyloric stenosis
Associated symptoms – CNS, GI, UT infections
Vomiting after paroxysmal cough – whooping cough (Pertussis)
Dehydration or shock – could be an obstruction – 3rd spacing 🡪 shock
Abdominal distention – exclude lower intestinal obstruction and strangulated inguinal hernia
How do you manage a vomiting infant?
VITAL SIGNS
ASSESS FOR DEHYDRATION AND SHOCK
Rehydrate and support
Find and treat underlying cause
Reflux is common in infants, but can progress to GORD. What features are associated to class it as a disease?
Faltering growth/failure to thrive
Oesophagtis +/- stricture
Apnoea
Aspiratation, wheezing, hoarseness – often comes as referrals from respiratory
IDA
Seizure like events/opsthotonos (acid causes arching of the back to adjust position)
What is the gold standard diagnosis for GORD?
pH study
What other investigations might you do for GORD?
Barium swallow and meal
Endoscopy
PPI trial
How to manage a baby with GORD?
Position of their feeds - on their left, hold them upright
Thicken feeds - gaviscon
Drugs - antacid, H2 blocker (ranitidine), PPI
Surgery – fundoplication
What is the definition of diarrhoea?
Change in the consistency of stools (loose/liquid)
And/or increase in the frequency of passing stools
Acute – less than 2 weeks
What are some causes of acute diarrhoea?
Viruses – rotavirus, norovisu, enterovirus, many more
Bacteria – C.diff, E.coli, salmonella
Parasites – giardia
Other infections – otitis media, tonsillitis
Food allergies and other diseases
What is hypernatraemia dehydration?
Complication of diarrhoea
Happens because the water loss exceeds the sodium loss
Difficult to detect – blood test shows serum sodium > 145
Unusual and serious
Irritable with doughy skin
Water shifts from intracellular to extracellular
Rehydration should be slow
What are the features of hypernatraemic dehydration?
Jittery movements
Increased muscle tone
Hyperreflexia
Convulsions
Drowsiness/coma
Doughy skin
Irritable
How do you investigate a child with diarrhoea?
Firstly – ASSESS FOR DEHYDRATION – cap refill, pinch test, sunken eyes, mucous membranes
Look for an underlying cause
How do you manage a child with acute diarrhoea?
Encourage normal diet
Assess and treat dehydration – either oral or IV/NG if severe
Supportive therapy
Treat underlying cause if possible – antibiotics, probiotics
What is the most common GI related food allergy?
Cow’s milk protein allergy
This is NON IgE mediated
How does cow’s milk protein allergy present?
Loose stool
Vomiting
Failure to thrive
Reflux
Mouth ulcers
Atopic history (eczema, asthma, hayfever)
Bloody stools
Constipation
Very rarely – anaphylaxis
How does lactose intolerance present?
Explosive watery stools
Abdominal distention
Flatulence
Audible bowel sounds
How is cow’s milk protein allergy diagnosed?
Elimination diet
How is cow’s milk protein allergy treated?
Change feeds – hydrolysed or powdered milk feeds
Hope that the child will “grow out of it” eventually
What are the main causes of malabsorption?
Small intestine disease – coeliac
Exocrine pancreatic dysfunction – i.e. in CF (absence of lipase, proteases and amylase lead to defective digestion)
Cholestatic liver disease/biliary atresia – malabsorption of fat due to lack of bile salts
Short bowel syndrome – resection due to congenital abnormalities/NEC. Nutrient, water and electrolyte malabsorption
Loss of terminal ileum function – resection, Crohn’s. absent bile acid and vitamin B12 absorption
How does malabsorption present?
Abnormal stools – difficult to flush, extremely offensive odour
Failure to thrive/poor growth
Specific nutrient deficiencies e.g. iron deficiency anaemia, B12 deficiency
What is the classic coeliac disease history?
Present in the first few years of life after introduction of gluten in cereals
Generally irritable
Abnormal stools (smelly, diarrhoea, floating)
Abdominal distention
Buttock wasting
Failure to thrive/poor growth
What investigations do you do for coeliac disease?
Antibodies – endomysial antibodies and tissue transglutaminase antibodies
Gold standard diagnosis – intestinal (jejunal) biopsy showing villous atrophy and crypt hyperplasia
How is coeliac disease treated?
Lifelong gluten free diet
Define constipation and encopresis
Constipation = painful passage of hard, infrequent stools
Encopresis = involuntary soiling
What causes constipation in young children?
Child may avoid defecating due to pain (i.e. they have a transient superficial anal fissue)
Occasionally follows – forceful potty training, use of uncomfortable toilets (on holiday/at school) or psychological family stress
How does constipation cause soiling?
Child avoids toileting due to pain
Prolonged faecal status = resorption of fluids = increase in size and constistency
Can lead to stretching of the rectum (stools withheld for a long time due to not wanting to defecate)
This leads to reduced sensation
Which can lead to overflow and soiling
What are some red flags to be aware of in a constipated child?
Delayed passage of meconium – Hirshprung’s, CF
Fever, vomiting, bloody diarrhoea
Failure to thrive
Tight empty rectum and palpable abdo mass – Hirshprung’s
Ejection of stools on PR – Hirshprung’s
Abnormal neuro examination – abdo exam in children should include SPINAL EXAMINATION due to close proximity of the rectum
What are the long term complications of constipation?
Acquired megacolon
Anal fissues
Overflow incontinence (soiling)
Behavioural problems
What are some differential diagnoses for constipation in children?
Hirschsprung’s
Anorectal malformations
Spina bifida
Neuromuscular disease
Hypothyroidism
Hypercalcaemia
Coeliac
Food allergy/intolerance
CF
Sexual abuse
Poor diet
What investigations need to be done for constipation?
Clinical diagnosis
Abdo exam – hard stools palpable
Further Ix only if organic cause suspected
How is constipation treated?
Diet, fluids, exercise
Toilet training – sit after breakfast/lunch/dinner
Star charts – simple reward scheme
Medications
Softener – lactulose
Movicol
Stimulant – senna, dulcolax
Bulking agent – fybogel
What are the pathological features of Crohn’s disease?
Affects the mouth to anus
Transmural inflammation
Discontinuous with skip lesions
GRANULOMATOUS
Rectal sparing
Fissures, fistulae, abscesses and strictures
Perianal disease
What causes Crohn’s disease?
Unkown
How does Crohn’s disease present in paediatrics?
FAILURE TO THRIVE – poor growth, delayed puberty
Abdominal pain
Diarrhoea
Rectal bleeding
Tiredness/malaise
Extra GI symptoms – fever, arthritis, uveitis
Can present identical to anorexia nervosa – important to think about this
What is the main differential diagnosis for Crohn’s?
Ulcerative colitis
How is Crohn’s investigated?
Clinical examination
Endoscopy
Histology – look for granulomas
Biochemistry – inflammatory markers
How is Crohn’s treated in paeds?
Exclusive enteral nutrition – feed them loads of milk for 7-8 weeks and they get better
Corticosteroids – prednisolone, budenoside
Aminosalicylates – sulfasalazine, mesalazine
Antibiotics
Immunomodulators – MTX, azathioprine, 6-mecaptopurine
Biologics – infliximab, adalimumab
Surgery
What are the pathological features of UC?
Affects ONLY the colon
And ONLY the mucosa
No granulomas
No skip lesions – the whole colon is affected
Ulcers
Increased risk of adenocarcinoma in adulthood
How does ulcerative colitis present in paeds?
Failure to thrive/weight loss
Rectal bleeding
Diarrhoea
Colicky pain
Extra GI – mouth ulcers, arthritis, erythema nodosum, spondylitis
What are some differential diagnoses for UC?
Crohn’s disease
Infective causes of colitis e.g. C. Diff
How is UC diagnosed?
Colonoscopy – friable membranes (bleeding), visible ulcers
How to treat ulcerative colitis?
Mild attacks – topical steroids when confined to rectum/sigmoid colon, sulfasalazine for more extensive disease
Severe disease –systemic steroids
1/3 patients – colectomy (curative)
What is the first step of asthma management?
Very low dose inhaled corticosteroid
Plus salbutamol PRN
What are the Fraser guidelines?
Used to assess if a patient who has not yet reached age is competent to consent to treatment.
Criteria:
Understands the professional’s advice
Cannot be persuaded to inform their parents
Likely to begin or continue sexual intercourse without contraception
Physical and mental health will suffer if they don’t get the contraceptive treatment
The young person’s best interests require them to receive contraceptive treatment with or without parental consent
What is the main risk factor for neonatal respiratory distress syndrome?
Prematurity
What is the main risk factor for transient tachypnoea of the newborn?
Caesarean section
What are the features of a severe asthma attack?
SpO2 < 92%
PEF 33-50%
Too breathless to talk or feed
Heart rate - >125 (>5 years), >140 (1-5 years)
Resp. rate > 30/min (> 5 years), > 40 (1-5 years)
Use of accessory neck muscles
What are the criteria for a life threatening asthma attack?
SpO2 < 92%
PEF < 33%
Silent chest
Poor respiratory effort
Agitation
Altered consciousness
Cyanosis
What causes measles?
Infection with the measles virus
Droplet infection is the method of transmission
Highly contagious
What is the main risk factor for contracting measles?
Avoidance of the MMR vaccination
What are the symptoms of measles?
PRODROMAL SYMPTOMS - CCCK:
Cough
Coryza (runny nose/cold like symptoms)
Conjunctivitis
Koplick spots (white spots on the buccal mucosa – pathognomonic)
RASH – maculopapular, spreads downwards from behind the ears to the whole of the body
Fever
Marked malaise
What are some complications of measles?
Respiratory – pneumonia, otitis media, tracheitis
Neurological – febrile convulsions, encephalitis
Diarrhoea
Hepatitis
Corneal ulceratoin
Appendicits
Myocarditis
How is measles diagnosed?
Clinical diagnosis
Can confirm with serological testing of blood or saliva
How is measles treated?
VIRAL ILLNESS so supportive treatment only (symptomatic, fluids If needed, isolate if in hospital)
Antivirals in immune compromised
School exclusion for 5 days from onset of rash
Best treatment – preventative vaccine
What are the risk factors for developing mumps?
Unvaccinated children
What are the clinical features of mumps?
Fever
Malaise
Parotitis (swollen parotid gland)
May complain of pain eating and drinking
May complain of earache
Hearing loss can occur – usually unilateral and transient
What are some complications of mumps?
Viral meningitis and encephalitis
Orchitis – reduced sperm count in males
Oophoritis
Mastitis
Arthritis
How is measles diagnosed and managed?
Clinical diagnosis
Management – symptomatic (viral illness)
School exclusion for 7 days from onset of parotitis
What time of year do you expect to see rubella virus?
Winter and spring months (could be a hint in questions)
Describe the rash seen in Rubella
Maculopapular rash starting on the face and spreading across the entire body
NOT itchy in children (but is in adults)
Rubella is a diagnosis made clinically. In which situation would you need to perform serological testing to confirm your diagnosis?
When there is a risk of exposure to non-immune pregnant lady
Congenital Rubella – cataracts and sensorineural deafness
How is rubella treated?
No effective anti-viral treatment
Usually resolves in 3-5 days
Prevention lies in immunisation
How are the human herpes viruses transmitted?
Through mucous membranes of skin
Kissing
Genital contact
Vertical transmission at birth
How do herpes simplex viruses present?
Gingiostomatitis – sores on the lips, gums, tongue and hard palate – can lead to ulceration and bleeding, common reason why child may refuse to eat or drink
Cold sores
Herpetic whitlows – in thumb suckers
Conjunctivitis and inflammation of the eyelids
CNS infection – aseptic meningitis (self-resolving), encephalitis
How is herpes simplex diagnosed and treated?
Clinical diagnosis
Acyclovir
Give during pregnancy especially to stop transmission to baby
Which infecting organism causes chickenpox and what other infection may it cause?
Varicella zoster virus
(human herpes virus 3)
May also cause shingles virus later in life – reactivation and then a rash appears in a dermatomal distribution
How is chickenpox spread?
Droplet infection via the respiratory route
Highly infectious – contagious from 2 days before the rash appears and until it disappears
Describe the rash seen in chickenpox?
Vesicular rash
Very itchy
Starts on the head and trunk and progresses to the peripheries
What is the typical prodrome of chickenpox?
High fever – 38-39*C
Usually stops when the rash appears
What are some complications of chickenpox in the immunocompromised?
Haemorrhagic lesions
Pneumonitis
Progressive and widespread infection
DIC
How is chickenpox managed?
Camomile lotion to stop the itching
Keep away from high risk individuals – i.e. don’t put them anywhere near a clinical area in which there are immune suppressed patients
How do you protect immune compromised invidiuals who have been exposed to chickenpox?
Human varicella zoster immunoglobulin (HVZIG)
(bone marrow transplant patients, congenital or aquired immune deficiency, steroids, neonates)
What are the clinical features of glandular fever and which organism causes it?
Fever
Malaise and extreme lethargy
Tonsillopharyngitis
Prominent cervical lymphadenopathy
Petechiae on soft palate
Splenomegaly
Hepatomegaly
Maculopapular rash
Jaundice
Caused by Epstein Barr virus
What investigations can be done for EBV?
Positive monospot test
Seroconversion – IgG to Epstein-Barr virus antigens
Treatment = symptomatic
What childhood rash is caused by HHV6?
Roseola infantum
Generalised macular rash which appears after the prodromal fever wanes
Common cause of febrile convulsions
What is the presentation of “slapped cheek syndrome” and which infecting organism causes it?
Most common during spring
Fever, malaise, headache, myalgia – prodromal
Characteristic cheek rash – looks like they have been slapped on the cheeks
Progresses to maculopapular rash on the trunk and limbs
Caused by parvovirus b19
What is the pathology of parvovirus B19 and which group of children is this dangerous for?
Infects the red cell precursors in the bone marrow
Can lead to aplastic crisis in children with chronic haemolytic anaemias (sickle cell, thalassaemia) and immunocompromised children
What infection is caused by coxsackie virus?
Hand, foot and mouth disease
What are the symptoms of hand, foot and mouth disease?
Painful vesicular lesions on the hands and feet
Painful ulcers in the mouth and on the tongue
Systemic features are mild
Subsides in a few days
Which ways can staph aureus cause disease?
Direct effect – abscess, cellulitis, oesteomyeltitis, impetigo, septic arthritis, septicaemia
Toxin-mediated (indirect) – TSS, food poisoning
Toxin-mediated (direct) – scalded skin syndrome
Which infecting organism causes scarlet fever?
Strep. Pyogenes (group A beta haemolytic strep)
Same bacteria that causes strep throat
What does impetigo look like, what causes it and how is it treated?
Honey coloured crusted lesions, often on the face
Staph aureus or group A strep (pyogenes)
Treatment – fucidic acid (topical treatment) or erythromycin
Which bacterium causes boils?
Staph aureus
How are pneumococcal infections spread?
Droplet infection
Strep. Pneumoniae can be carried asymptomatically in the nasopharynx of health children – only spread and cause disease when they cough or sneeze
What diseases are caused by strep. Pneumoniae?
Pharyngitis
Otitis meida
Conjunctivitis
Invasive disease – pneumonia, sepsis, meningitis
Which bacterium is responsible for toxic shock syndrome and how does it present?
Toxin producing staph and strep
High fever
Diffuse macular rash
Hypotension
Shock
Other symptoms – muscle pain, vomiting, headache, altered consciousness, desquamation of the hands and feet
How is toxic shock syndrome managed?
ICU to manage shock
Surgical debridement of infected areas
IVIG – neutralises circulating toxin
What are the symptoms, cause and treatment of scalded skin syndrome?
Fever
malaise
Purulent, crusting, localised infection (around eyes, nose and mouth)
Widespread erythema and tenderness of the skin
Cause – staphyloccocus aureus toxin
Treatment – IV fluclox, monitor fluid balance, analgesia
What are the symptoms, cause and treatment of necrotising fasciitis?
Large visible necrotic areas of skin – affecting all the layers of the skin and fascia
Usually staph or group A strep (pyogenes)
Treatment – IV abx PLUS surgical debridement
Which age group and racial group are susceptible to Kawasaki’s disease?
6 months to 5 years
More common in japanese and Afro-Caribbean infants
What causes Kawasaki’s disease?
Unknown
Thought to be related to bacterial toxins
What are the diagnostic criteria for Kawasaki’s disease?
Fever for > 5 days
Plus 4/5 of the following:
Cervical lymphadenopathy
Bilateral conjunctival injection
Changes to the hands and feet – peeling of the skin on the hands and feet/palmar and plantar erythema
A rash
Changes the mouth or throat – dry, cracked lips/red swollen tongue
What is the most serious complication of Kawasaki disease and therefore the most important investigation?
Coronary artery aneursysms
Need to perform a echocardiogram (the diagnosis is otherwise clinical so no other investigations need to be performed)
How is Kawasaki’s disease treated?
IVIG
Aspirin
Kawasaki’s is one of the only indications for aspirin in children. Why is it normally contraindicated in children?
Due to the risk of Reye’s syndrome (causes swelling of the liver and brain)
What is the most common cause of septic shock in children?
Meningococcal infection (Neisseria meningitidis)
Which may or may not be accompanied by meningitis !!
What is the most common cause of septicaemia in neonates?
Group B streptoccous
Or gram negative organisms acquired from the birth canal
What are some risk factors for septicaemia?
Sickle cell disease
Immunodeficiency
What are the symptoms of septicaemia?
Fever
Poor feeding
Miserable/irritable
Lethargy/drowsiness
History of focal infection – meningitis, osteomyelitis, gastroenteritis, cellulitis
What are the signs of septicaemia?
Fever
Purpuric non-blanching rash (meningococcal septicaemia specifically)
Irritability
Signs of shock
Cold peripheries
Reduced cap refil
Pale
Hypotension
Tachycardia
Oliguria
What investigations would you do in a child you in which are worried about sepsis?
SEPTIC SCREEN:
FBC, U&E
Blood cultures
Urine sample – MC&S
CSF sample
Chest XR
Acute phase reactant e.g. CRP
How do you treat septicaemia?
Aggressive fluid resuscitation
Potential transfer to intensive care
Start broad spectrum antibiotics before cultures come back
What are the non-infective causes of meningitis?
Sterile meningitis can be caused by:
Malignancy
Autoimmune diseases
What are the bacterial causes of meningitis?
Neonates - GBS, E.coli, listeria monocytogenes
1 months – 6 years – meningococcus, pneumonoccus, haemophilus influenzae
> 6 years – meningococcus and pneumococcus
Rarely - TB
What are the viral causes of meningitis?
Enteroviruses
EBV
Adenoviruses
Mumps
What are the symptoms of meningitis?
Fever
Headache
Photophobia
Lethargy
Poor feeding/vomiting
Irritability
Hypotonia (the baby or child will be floppy)
Drowsiness
Loss of consciousness
Seizures
What are the signs of meningitis?
Fever
Purpuric non-blanching rash (if meningococcal sepsis)
Neck stiffness
Positive Brudzinki’s sign – flexion of the neck causes flexion of the knees
Positive Kernig’s sign – back pain on extension of the knee
Bulging fontanelle
Opisthotonos
What investigations would you do if you suspected meningitis?
FBC and white cell
Blood glucose and gas
CRP
U&E
LFTs
Cutures - blood, throat swab
Lumbar puncture (unless contraindicated)
Consider CT/MRI brain
What are the contraindications for LP?
Signs of raised ICP
Focal neurological signs
Bleeding problems
Local infection at site of LP
Cardiorespiratory instability
If it will unduly delay the starting of antibiotics
What are some complications of meningitis?
Hearing loss
Long term neurological impairment
Hydrocephalus
Cerebral abscess
Encephalitis
What CSF changes would you expect to see in bacterial meningitis?
Cloudy colour
Raised polymorphs (neutrophils, eosionophils, basophils)
Raised protein
Decreased glucose
What CSF changes would you expect to see in viral meningitis?
Clear colour CSF
Raised lymphocytes
Normal protein
Normal glucose
How is meningitis treated?
Immediate IV antibiotic treatment – cefotaxime or ceftriaxone
Supportive therapy (IV fluids, pain relief)
Which strains of meningitis are vaccinated against?
Meningitis B – 8 weeks, 16 weeks, 1 year
Meningitis C – 1 year
ACWY – offered to teenagers/first year university students
Which antibiotic should be given as meningitis prophylaxis for close/household contacts?
Rifampicin
What is encephalitis?
Inflammation of the brain parenchyma
Can be difficult to differentiate from meningitis clinically at first
What are the most common causes of encephalitis in the UK?
Enteroviruses
Respiratory viruses
Herpes viruses
What is the clinical presentation for encephalitis?
Fever
Headache
Photophobia
Neck stiffness
(same clinical presentation as meningitis)
Can also feature behavioural change
How do you investigate encephalitis?
FBC
U&E
Lumbar puncture
Blood cultures
How do you treat encephalitis?
Antibiotic cover in the event it could be bacterial meningitis
Acyclovir - to cover HSV possibility
How do you investigate and treat tuberculosis?
Mantoux test
Quadruple therapy – RIPE
Rifampicin
Isoniazid
Pyrazinamide
Ethambutol
6 months of R + I, 2 months of P + E (6, 6, 2, 2)
What is the main reason for children having HIV?
Vertical transmission from an HIV infected mother
How does HIV present in children?
Symptoms of immunosuppression:
Recurrent bacterial infections
Candidiasis
Opportunistic infections e.g. Pneumocystis jiroveci
Severe failure to thrive
Malignancy
Any usual collections of infections should make you think of immune deficiency
How is HIV tested for in children?
HIV DNA CPR blood test
How do you reduce vertical transmission of HIV?
Avoid breast feeding
Use of antenatal, perinatal and post-nastal antiretroviral to suppress viral replication
Avoidance of labour and contact with the birth canal – planned C-section
How do vaccines work?
Induce T and B cell (antibody) immunity for organisms/toxins
Induce immunological memory – so if you come into contact with the organism again, you can fight it due to the presence of memory immunity
Herd immunity - important as well as individual protection as it protects those who haven’t been immunised
What is the difference between active and passive immunity?
Active immunity – give them part of the pathogen
Passive immunity – give them antibodies to the pathogen instead
Which vaccines are live attenuated?
MMR
BCG
Nasal flu
Rotavirus
Chickenpox
Which vaccines are routinely given?
Tetanus
Diphtheria
Whooping cough
Polio
Measles
Mumps
Rubella
Hib (Haemophilus influenza B)
Men C
Prevnar 13 (pneumococcal – strep pneumoniae)
Rotavirus
Meningitis B
Which vaccines can be given additionally?
Pneumococcus
Meningococcus ACWY
Varicella
TB
Hepatitis
Influenza
HPV
Which vaccines are given at 2 months?
Tetanus
Diptheria
Pertussis
Polio
HiB
Prev 13
Men B
Which vaccines are given at 3 months?
Tetanus
Diptheria
Pertussis
Polio
Hib
Men C
Which vaccines are given at 4 months?
Tetanus
Diptheria
Pertussis
Polio
Hib
Prevnar 13 (pneumococcal)
Men B
(same as at 2 months – boosters of all of these)
Which vaccines are given at 1 year?
Hib
Prev 13
Men B
Men C
MMR
Which vaccines are given at 3-4 years?
Tetanus
Dip
Pertussis
Polio
Flu
Which vaccines are given at 13 years?
Tetanus booster
Men ACWY
HPV (girls only)
Flu (some)
What is the definition of an allergy?
A hypersensitive reaction initiated by specific immunoglobulins
Can be IgE mediated – i.e. peanut allergy
Or non-IgE mediated – i.e. coeliac disease
What is the definition of hypersensitivity?
Objectively reproduceable symptoms or signs following a defined stimulus (e.g. food, drug, venom) at a dose tolerated by a normal person
What is the definition of atopy?
A personal/familial tendency to produce IgE in response to ordinary exposures to allergens (results in ashtma, hayfever, conjunctivitis or eczema)
Define anaphylaxis
A severe, life threatening hypersensitivity reaction
How is anaphylaxis treated?
Stat does of adrenaline (i.e. giving through an epi pen)
How does allergic rhinitis present?
Coryza
Conjunctivitis
Postnasal drip causing cough
How is allergic rhinitis treated?
Antihistamines (used singly or in combination)
Steroid nasal sprays
Cromoglicate eye drops
Leukotriene inhibitors
Oral steroids
Specific immunotherapy
What are some causes of primary immune deficiency?
Severe combined immunodeficiecny
X-Linked agammaglobulinaemia (assoc. w pneumocystis jiroveci)
Defects of bacterial phagocyte function
Defects in leucocyte function
Minor immunoglobulin abnormalities
Opsonisation defects
What are some causes of secondary immune deficiency?
Malignancy
HIV
Bone marrow transplant
Steroid/immune supressant drugs
Which type of infecting organisms would raise your suspicion about immune deficiency?
Candida
PCP (pneumocystis jiroveci)
Aspergillus
These are all fungal infections
How do you investigate immune deficiency?
Full blood count
White cell count
Lymphocytes
Blood film
Neutrophils
complement
Immunoglobulins
How are immune deficiencies treated?
Antibiotic prophylaxis to prevent infection – e.g. co-trimoxazole to prevent PCP
Appropriate ABx to treat infections
Immunoglobulin replacement therapy for defects in antibody function or production
Bone marrow transplant for severe immune deficiency
Hope for the future – gene therapy (due to the genetic component of these illnesses)
How many respiratory infections does an average pre-school child have each year?
6-8
Mostly self limiting – ear, nose, throat (URT)
Some are more dangerous – bronchiolitis, pneumonia (LRT)
What is the most common way a child will present with an URTI?
Nasal discharge and blockage
Fever
Painful throat
Earache
Cough may also be present and troublesome
What are the clinical features of the common cold (coryza) and the most common causative organisms?
Features – clear or mucopurulent nasal discharge, nasal blockage
Commonest pathogens are VIRAL – rhinoviruses (hundreds of subtypes), coronaviruses, RSV
How is the common cold treated?
Education to parents that colds are self-limiting and have no specific curative treatment (to reduce anxiety and reduce un-necessary visits to the doctor)
Paracetamol or ibuprofen – for fever and pain
NO BENEFIT OF ANTIBIOTICS as it’s a viral infection and secondary bacterial infections are very uncommon
What are the common causes of pharyngitis (sore throat)?
Usually viral – adenoviruses, enteroviruses, rhinoviruses
In older children - group A beta haemolytic strep (pyogenes) is very common
Leave alone if viral
Fluclox if suspect strep throat
What are the most common causes of tonsillitis?
Tonsillitis = inflammation of the pharyngeal tonsils
Commonest organisms = group A beta-haemolytic strep and EBV
Viruses are the most common cause, however it’s clinically impossible to distinguish between bacterial and viral
What are the symptoms more commonly associated with bacterial tonsilitis?
Headache
Apathy
Abdominal pain
Tonsillar exudate
Cervical lymphadenopathy
How is bacterial tonsillitis treated?
Penicillin
Erythromycin if allergic
Many cases treated with Abx even when only 1/3 estimated to be bacterial
Amoxicillin avoided as can cause rash if due to EBV
What are the indications for tonsillectomy?
> 7 infections of recurrent acute tonsillitis in a year
Obstructive sleep apnoea/sleep disordered breathing (this is now the main reason for tonsillectomy)
A peri-tonsillar abscess (quinsy)
What are the indications for adeno-tonsillectomy?
Otitis media with effusion with hearing loss
Obstructive sleep apnoea
How does acute otitis media present and which age-group of children are most commonly affected by it?
Presentation:
Irritable/miserable child pulling at their ear (ear pain)
Fever
Most common at 6-12 months of age
Most children will experience it at least once
What will the tympanic membrane look like on examination in a child with otitis media?
Bright red
Bulging appearance
Loss of normal light reflection
Which pathogens are typically responsible for otitis media?
RSV
Rhinovirus
Pneumococcus (strep pneumoniae)
H. influenzae
Moraxella catarrhalis
Strep. Pyogenes (group A beta haemolytic)
How is acute otitis media treated?
Ibuprofen and paracetamol for pain
80% resolve spontaneously
Amoxicillin
What are some complications of otitis media?
Extracranial – mastoiditis, tympanic membrane perforation, glue ear
Intracranial – meningitis, abscess, venous sinus thrombosis
What is otitis media with effusion?
Aka glue ear
Recurrent OM infections leading to reducing hearing
The most common cause of conductive hearing loss in children
What would the tympanic membrane look like in a child with glue ear?
TM appears dull and retracted
Often with a visible fluid level
How can hearing loss due to glue ear be treated?
Most cases resolve spontaneously
But can be treated with the insertion of grommets (ventilation tubes) – drains the excess fluid away from the tympanic membrane
How is sinusitis treated?
Infection of the paranasal sinuses
Usually viral so symptomatic treatment
If bacterial – antibiotics and analgesia
What is the most common cause of obstructive sleep apnoea in children?
Upper airway obstruction secondary to adeno-tonsillar hypertrophy
How does sleep disordered breathing in childhood present?
Loud snoring
Apnoea for 30-45 seconds
Disturbed sleep
Some children may be obese, underweight, hyperactive in the day or excessively sleepy during the day
How would sleep disordered breathing be investigated?
Overnight sleep studies
Showing intermittent hypoxia and hypercapnia
How is sleep disordered breathing treated?
Adeno-tonsillectomy
What is the definition of croup?
Inflammation of the larynx and trachea in children
Associated with infection
Causes breathing difficulties
What is the most common cause of croup?
Parainfluenza viruses
Which age group is affected by croup and which time of year is it seen mostly?
6 months – 6 years
Most common in autumn
What are the clinical features of croup?
Initially – fever and coryza
Barking cough – “seal like”
Harsh stridor
Hoarseness
Symptoms often start and are worse at night
How is croup managed? (first line and other)
FIRST LINE = ORAL DEXAMETHASONE single dose
Nebulised epinephrine for severe croup
Oral prednisolone
Nebulised steroids
If < 12 months – low threshold for hospital admission
What causes acute epiglottitis?
Haemophilus influenza B (bacterial infection)
Life threatening emergency
Why has the incidence of acute epiglottitis gone down?
Due to the introduction of HiB vaccine
How does acute epiglottitis present?
Very acute onset
High fever in an unwell, toxic looking child
Extremely painful throat – cannot speak or swallow – drooling saliva down the chin
SOFT stridor
Increasing respiratory difficulty
Child sits immobile, upright with an OPEN MOUTH to optimise airway
No/minimal cough
How is acute epiglottitis managed?
URGENT hospital admission
DO NOT EXAMINE THE THROAT
Senior anaesthetist
Paediatrician
ENT surgeon
Intubate/emergency tracheostomy if needed
Once airway is secured – blood cultures
Start cefuroxime
Abx for 3-5 days
Rifampicin prophylaxis offered to household contacts
What type of infection is whooping cough and what is it caused by?
Whooping cough is caused by Bordetella Pertussis (bacterial)
It’s a highly infectious form of bronchitis (inflammation of the bronchi)
How does whooping cough present?
Coryza for 1 week (catarrhal phase)
Then paroxysmal spasmodic cough
Followed by classic inspiratory whoop (paroxysmal phase)
Spasms of cough often worse at night
May vomit after the coughing episodes
No breathing difficulty as no gas exchange happens at the bronchi. Whereas bronchiolitis will have severe breathing difficulty
What investigations would you do for whooping cough?
Nasal swab to detect Bordetella pertussis
Marked lymphocytosis on blood film
How do you treat whooping cough?
Admit to hospital if suffering cyanotic attacks
Erythromycin – treatment for patient and prophylaxis for families
Offer vaccine to prevent getting infection again
Pregnant women should be vaccinated
What is bronchiolitis and which age group does it affect?
Inflammation and infection of the bronchioles
Most common respiratory infection of infancy
OCCURS IN INFANTS UP TO 1 YEAR OLD
RARE AFTER 1 YEAR
What causes bronchiolitis?
Respiratory syncytial virus (RSV)
What are some risk factors for getting bronchiolitis?
Premature babies
Infants with congenital heart disease
Infants with CF
Infants with any type of immune deficiency
How does bronchiolitis present?
Coryzal symptoms
Dry cough
BREATHLESS
Wheeze
Feeding difficulty – associated with dyspnoea
What signs would you see on examination of a baby with bronchiolitis?
Tachypnoea
Subcostal and intercostal recessions
Hyperinflation of the chest
Fine end-inspiratory crackles
High-pitched wheezes
Tachycardia
Low O2 SATS
Cyanosis/pallor
What investigations might you do in a child presenting with bronchiolitis?
RSV can be identified on nasopharyngeal secretions using immunofluorescence
CXR – hyperinflation of the lungs due to small airways obstruction
Blood gas (in severe cases) – lowered arterial oxygen and raised CO2
How is bronchiolitis managed?
SUPPORTIVE TREATMENT ONLY due to viral infection
Humidified oxygen
Fluids if needed – IV, NG
Mechanical ventilation in 2% of infants admitted
What preventative treatment can be given for bronchiolitis, who receives it, and how often?
Palivizumab – a monoclonal antibody vaccine to RSV
Given to high risk individuals – preterm, CF, congenital heart/lung disease
IM injection once a month
What is the definition of pneumonia?
Pneumonia = infection and inflammation of the lung parenchyma
Can be viral or bacterial
What are the most common causes of pneumonia in the newborn?
Group B streptococcus
Gram negative enterococci
These are caught from the mother’s genital tract
What are the common causes of pneumonia in infants and young children?
Bacterial – strep pnuemoniae, H. Influenzae, bordetella pertussis, chlamidya, staph aureus
Viral – RSV mainly. Also rhino and other respiratory viruses
What are the causes of pneumonia in children over 5 years?
Strep pneumoniae
Chlamidya pneumoniae
Klebsiella pneumoniae
Myoplasma pneumoniae
Mycobacterium TB - should be considered at all ages
What are the most common causes of pneumonia in the immune compromised?
Pneumocystis jiroveci
TB
What are the pathological stages of pneumonia?
Congestion
Red hepatisation
Grey hepatisation
Resolution
What are the symptoms of pneumonia?
Usually preceded by URTI
Fever >38.5*
Difficulty breathing
Cough – productive
Lethargy
Poor feeding
Unwell
Chest, neck or abdominal pain
Grunting
What are the signs of pneumonia?
Tachypnoea
Nasal flaring
Chest in drawing
Chest hyperinflation and wheeze – viral or mycoplasma infection
End-inspiratory crackles over the affected area
Possible decreased oxygen saturations
What investigations assist a diagnosis of pneumonia?
Chest X-Ray – dense white area if lobar pneumonia caused by strep pneumoniae
Nasopharyngeal aspirate
FBC, WCC etc.
Most cases of pneumonia are managed at home. What would be the indications for hospital admission?
O2 sats < 93%
Severe tachypnoea and difficulty breathing
Grunting
Apnoea
Not feeding
Family unable to provide appropriate care
How is pneumonia treated?
Supportive – analgesia, O2, fluids
Antibiotics - Newborns = broad spec, Older infants = oral amoxicillin or erythromycin
What is the definition of wheeze?
An expiratory, polyphonic breathing sound
Created by air being forced through a narrow air passage
What are the 3 phenotypes of childhood asthma?
Transient early wheezing
Non-atopic wheezing in the pre-school child (viral episodic wheeze)
IgE-mediated wheezing (atopic ashtma)
What are some causes of wheeze in childhood?
Transient early wheezing
Viral episodic wheeze
Asthma
Chronic aspiration of feeds
CF
Inhaled foreign body
Which types of cells are involved in atopic asthma?
Eosinophils
Lymphocytes
Mast cells
Neutrophils
What is the presentation of a transient early wheezer?
Virus associated
Decreased lung function from birth – small airway calibre
Risk factors – maternal smoking, prematurity. NO relation to FH of asthma
More common in males
Usually “grow out of it” by age of 5
What is the presentation of a non-atopic wheezer?
Normal lung function in early life
Then become episodic viral wheezers in first 10 years of life
Symptoms improve during adolescence
No interval symptoms – ONLY GET WHEEZY WHEN THEY HAVE A VIRUS
No atopy
No benefit from regular ICS
Most common cause = rhinovirus (common cold)
How are viral episodic wheezers treated?
PRN salbutamol inhaler
How does atopic asthma present?
Normal lung function at birth
Recurrent wheeze develops with allergic sensitisation (increased IgE in blood, positive skin prick test to common allergens)
PERSISTENT symptoms – but may be worse during an infection
Risk factors – family history, eczema
Symptoms:
Cough
Wheeze
Breathlessness
Tight chest
Diurnal variation of symptoms
How is asthma diagnosed?
Clinical diagnosis – consider disease pattern (i.e. symptoms only when they have a cold = episodic viral wheezer, symptoms all the time = asthma)
Skin prick test for common allergens
Peak flow diary
Bronchodilator responsiveness – PEF will increase by 1—15% after inhaling a bronchodilator
What is the first line treatment for atopic asthma?
British thoracic society says that everyone with a new diagnosis of asthma should be given:
A SABA (short acting B2 agonist such as salbutamol)
AND a low-dose inhaled corticosteroid (such as beclametasone)
What is the 2nd line treatment for asthma?
In children under 5 – add a leukotrine receptor antagonist (e.g. montelukast)
In children 5 or over – add a LABA (long acting beta 2 agonist – such as salmeterol)
How is an acute asthma attack managed?
Oxygen
Nebulised or inhaled beta 2 agonist
IV steroid (prednisolone or hydrocortisone)
Atrovent nebuliser
IV salbutamol bolus
Magnesium sulphate/aminophylline/salbutamol infusion
Follow this stepwise management
What is the best way to increase the bioavailability of inhaled corticosteroids?
Using a spacer
What are some possible long-term risks of using ICS?
Adrenal suppression
Growth suppression
Osteoporosis
Diabetes
Cataracts
Important to ensure your patient is on the minimum possible dose to minimise the side effects
Why may a patient failure to respond to treatment?
ABCDE of failure to respond:
A – Adherence (most common reason is they aren’t taking it properly)
B – Bad disease (dose not adequate for severity of disease)
C – Choice of drug/device (certain people respond differently to different treatments)
D – Diagnosis may be incorrect
E – Environment (there’s an obvious environmental trigger making the symptoms worse – e.g. asking about pets and parental smoking in children with asthma)
What is the most common cause of recurrent cough in childhood?
Asthma
What are some other causes of recurrent cough in childhood?
Recurrent colds
Allergic rhinitis (post-nasal drip can cause a cough)
Infections – pertussis, RSV, TB
Reflux – aspiration can cause cough
Cigarette smoking (active or passive)
Suppurative lung disease (CF, bronchiectasis, ciliary dyskinesia)
TB – MUST be excluded in all children with recurrent cough
Habit cough
What are the main causes for chronic lung infection in childhood?
CF
Primary ciliary dyskinesia
Chronic aspiration
Immunodeficiency
TB
Which gene is involved in the pathogenesis of cystic fibrosis?
Cystic fibrosis transmembrane regulator gene (CFTR)
On chromosome 7
Inherited by autosomal recessive inheritence
Mutation = Delta F 508 mutation
How is cystic fibrosis usually picked up?
Diagnosed through the new born screening blood spot programme
What are the clinical features of CF in a baby?
Meconium ileus in newborn period
Prolonged neonatal jaundice
Recurrent chest infections
Most commonly = Failure to thrive and
Malabsorption, steatorrhoea (foul smelling and mucusy)
What are the clinical features of CF in a young child?
Chronic cough
Bronchiectasis
Rectal prolapse
Nasal polyp
Sinusitis
What are the clinical features of CF in an older child/adolescent?
Allergic bronchopulmonary aspergillosis (ABPA)
Diabetes mellitus (often not insulin-depedent)
Cirrhosis and portal hypertension
Distal intestinal obstruction (DIOS – equivalent to meconium ileus)
Pneumothorax or recurrent haemoptysis
Sterility in males
Increasing psychological problems
Which respiratory infections are patients with CF particularly susceptible to?
Staph aureus
Haemophilus influenzae
Pseudomonas aeruginosa
What signs would be found on a chest examination in someone with CF?
Hyperinflation of the chest due to air trapping
Coarse inspiratory crepitations
And/or expiratory wheeze
Finger clubbing with established disease
What is the biggest cause of death in CF patients?
95% of patients with CF will die of respiratory failure
Why do patients with CF experience malabsorption?
Pancreatic exocrine insufficiency – insufficient amounts of lipase, amylase and proteases produced by the pancreas
Therefore they cannot digest and absorb food adequately 🡪 failure to thrive, steatorrhoea
LOW faecal elastase demonstrates pancreatic insufficiency
What is the diagnostic gold standard for CF?
Sweat test
Excessive Na and Cl in the sweat
Normal range = 1—30 mmolL
CF = 60-125 mmol/L
Who is involved in the MDT approach to care of cystic fibrosis?
Child and parents
Paediatrician
GP and primary care team
Respiratory paediatrician
Physiotherapist
Specialist nurses
Genetic counsellor for the family (i.e. brothers and sisters)
Dietician
Teachers
How are the respiratory aspects of CF managed?
Chest physio 2x daily
Physical exercise encouraged
Continuous prophylactic oral antibiotics – usually flucloxacillin
Rescue antibiotics when needed
Nebulised DNase – decreases sputum viscosity to increase clearance
Oxygen and CPAP may be needed long term
Lung transplant
How is CF managed from a nutritional point of view?
HIGH CALORIE INTAKE DIET ESSENTIAL – 150% of normal
Oral enteric coated pancreatic replacement therapy with all meals and snacks
Overnight feeding over gastrostomy
Fat-soluble vitamin supplements (A, D, E, K)
In the foetal heart in utero, which side is higher in pressure?
The right side has the higher pressure
Blood shunts through from the RA to the LA through the foramen ovale
Most blood by this mechanism bypasses the lungs
Why does the foramen ovale close after birth?
First breath causes pulmonary blood flow to increase
This causes a decrease in RA pressure and increase in Lap
Causing the flap to close
What are the causes of cyanotic heart
Tetralogy of Fallot
Transposition of the great vessels
Tricuspid Atresia
Truncus Arteriosus
Total Anomalous Pulmonary venous connection (don’t really know what this is but I’ve put it in for completion)
Complete AVSD is also cyanotic
How do you differentiate whether the cause of cyanosis is cardiac or respiratory in origin?
Hyperoxic test (give them oxygen)
If they get better 🡪 respiratory
If they don’t 🡪 cardiac
Which is the most common cause of cyanotic congenital heart disease?
Tetralogy of Fallot
What are the 4 features of TOF?
Large VSD
Overriding aorta
Pulmonary stenosis
Right ventricular hypertrophy
What would the appearance on CXR be of Tetralogy of Fallot?
Boot shaped heart
What is the cause of cyanosis in TOF?
Pulmonary hypertension
Leading to an increase in RV pressure
The RV blood can then flow through the VSD – causing a R🡪L shunt
How is ToF usually diagnosed?
Antenatally
Or ID of murmur in first 2 months of life
Some may present with severe cyanosis in the first few days of life
What is the ”classical description” of a child presenting with Tetralogy of Fallot?
Severe cyanosis
Hyper-cyanotic spells (rapid increase in cyanosis, inconsolable crying, breathlessness and pallor)
Squatting on exercise
What type of murmur is head in Tetralogy of Fallot?
Ejection systolic murmur
At the left sternal edge (pulmonary region)
What other signs may you see on examination of someone with Tetralogy of Fallot?
Clubbing
CONGENITAL HEART DISEASE IS A MAJOR CAUSE OF CLUBBING
How is Tetralogy of Fallot treated?
Prostaglandins infusion to keep duct open until surgery
Corrective surgery at 6-9 months of age
What is Transposition of the great vessels?
Aorta is connected to the RV
Pulmonary artery is connected to the LV – meaning that deoxygenated blood gets pumped around the body = blue baby
This is a DUCT DEPENDANT LESION
How does transposition present?
May be diagnosed antenatally
Cyanosis may be present at birth
Or present on day 1-2 of life when the duct closes
Will be less severe if there’s an ASD or VSD allowing mixing
NO MURMUR
How does transposition appear on CXR?
Looks like an “egg on its side”
Echocardiogram confirms diagnosis by demonstrating abnormal arterial connections
How is transposition of the great arteries treated acutely?
Prostaglandin infusion to keep the ductus arteriosus open
What surgical options are there for transposition of the great vessels?
Balloon atrial septostomy – creates a hole between the 2 atria to allow mixing
Arterial switch procedure – the aorta and PA are transected above the valves and switched over. Done ELECTIVELY later in life, not as an emergency straight after birth
What is the biggest risk factor for a complete AVSD?
Down’s syndrome
All Down’s babies need an echo at birth
How does a complete AVSD present?
Either diagnosed antenatally
Routine echo in a Down’s baby
Cyanosis at birth
Heart failure 2-3 weeks of life
How is a complete AVSD treated?
Medical treatment for heart failure
Surgical repair at 3-6 months
How does tricuspid atresia present and how is it treated?
Neonatal cyanosis
Treatment – shunting between the subclavian and pulmonary artery
What are the causes of non cyanotic congenital heart disease and how do these present?
Left to right shunts (VSD, ASD, PDA)
These babies will either be breathless
Or asymptomatic and be detected by heart murmur on examination
What are the features of a physiological (innocent) murmur?
The 4 S’s:
- Soft blowing murmur
- ASymptomatic
- Left Sternal edge
- Systolic murmur only
If you heard a LOUD pansystolic murmur, what is the most likely diagnosis?
SMALL VSD
Large VSD is a much quieter murmur
How do large VSDs present?
Breathlessness
Heart failure symptoms
Failure to thrive
What murmur would you heart in aortic stenosis and pulmonary stenosis?
AS – ejection systolic murmur at upper RIGHT sternal edge
PS – ejection systolic at LEFT sternal age
How does coarctation present?
Circulatory collapse at 2 days old
Absent femoral pulses
(association with Turner’s syndrome)
What would you suspect if you heard a continuous murmur?
PDA
Where about is a PDA murmur heard loudest?
Continuous murmur beneath the left clavicle
Who is most at risk for a PDA?
Premature babies
Which maternal medication in pregnancy is associated with congenital heart defects?
Warfarin
What is the most common cardiomyopathy seen in childhood?
Dilated cardiomyopathy
What are the causes of dilated cardiomyopathy?
Inherited
Secondary to metabolic disease
From a direct viral infection of the myocardium (myocarditis)
How is dilated cardiomyopathy managed?
Symptomatic treatment – diuretics, ACEi, beta blockers (treat the symptoms of heart failure)
Myocarditis usually resolves spontaneously
Some children may need a heart transplant
What are the causes of heart failure in paediatrics?
Left to R shunts left untreated (volume overload)
Coarctation
AS, TR, MR
Dilated cardiomyopathy
Anything that affects all 3 layers – peri, myo and endocarditis, effusions
What are the signs and symptoms of left heart failure in children?
SOB and exercise intolerance
Palpiations
Chest pain
Feeding problems (due to breathlessness)
Poor/excessive weight gain
As a rule in paeds – increase in HR + RR + creps = left heart failure
Most common cause = large VSD
What are the signs of RHF in paeds?
Peripheral oedema
Liver enlargement (more sensitive than JVP)
Causes – tricuspid regurg, pulmonary stenosis, large VSD etc. (anything that may cause fluid overload backwards through the IVC)
What is the main difference between upper and lower urinary tract infections?
Upper tract infection – involves the kidneys (pyelonephritis) and is associated with fever and systemic involvement
Lower tract infection – involves the bladder (cystitis) and is less likely to be associated with a fever or the fever will only be low grade
What is the significance of UTI in childhood?
May indicate an underlying structural pathology of the kidneys
Recurrent kidney infections can cause renal scarring – predisposing to hypertension and chronic renal failure later in life
What is the most common infecting organism in paediatric UTI?
Escherischia Coli
Usually via contamination from the bowel
What other infecting organisms also cause UTI in children?
Proteus – more common in boys, predisposes to formation of phosphate stones in the urine
Pseudomonas – may indicate the presence of structural abnormality in the tract
What are some host risk factors for contracting UTI?
Incomplete bladder emptying
Vesico-ureteric reflux
Structural abnormality e.g. horseshoe kidney, ureteric strictures
Inadequate toilet hygiene
What are the long-term sequaelae of UTI in childhood?
Post infectious scarring leading to:
Hypertension
Impaired GFR/chronic renal failure
Pregnancy complications
How does UTI present in a baby?
Fever
lethargy
Irritability
Vomiting and diarrhoea
Poor feeding/failure to thrive
Prolonged neonatal jaundice
Septicaemia
Febrile convulsions (> 6 months)
How does UTI present in children?
Dysuria (painful urination)
Loin pain or abdominal pain
Increased frequency of urination
Fever (with or without rigors)
Lethargy
Anorexia
Febrile convulsions
Recurrent enuresis (wetting themselves)
Haematuria
How do you investigate UTI in children?
URINE SAMPLE:
Babies – nappy pads, clean catch, in and out catheter, suprapubic aspiration from the bladder using ultrasound guidance
Children – midstream urine sample. Should be tested straight away and if not then they must be refrigerated
Ultrasound scan
Functional scanning – DMSA to look for scarring
Micturating cystourethrogram (MCUG) – looks for reflux
How do you acutely treat a paediatric UTI?
Antibiotics – usually 3 day course of trimethoprim or 5 days of co-amoxiclav
Fluids – keep hydrated to support the kidneys
Analgesia (calpol etc.)
Adjust antibiotics based on sensitivites once urine sample is returned
What steps should be taken to prevent UTI in paediatrics?
Education about perineal hygiene (wipe front to back)
Regular voiding
High fluid intake to produce high urine output
Ensure complete bladder emptying (try a second time after a minute or 2)
Prevent and treat constipation
Antibiotic prophylaxis in those under 2 with severe reflux (trimethoprim)
How should children with renal scarring or reflux be followed up?
Surgery is an option for reflux
Long term low dose antibiotic prophylaxis
Circumcision
Annual BP checks
Regular assessment of kidney function and growth
What are some causes of proteinuria in children?
Transient proteinuria – fever, exercise
Orthostatic (postural)
Nephrotic syndrome
Hypertension
Tubular proteinuria
Increased glomerular perfusion pressure
What are the features associated with nephrotic syndrome?
Heavy proteinuria
Hypoalbuminaemia
Oedema
Hyperlipidaemia
What are the 3 different categories of nephrotic syndrome?
Congenital
Steroid sensitive
Steroid resistant
Which people have a higher risk of steroid sensitive and congenital nephrotic syndrome?
Congenital – Finnish people
Steroid sensitive – boys, Asians, atopic children
What is the most common cause of nephrotic syndrome in children?
Minimal change disease/minimal change glomerulonephritis
What are some other causes of nephrotic syndrome?
HSP and other vasculitides
SLE
Infections (e.g. malaria)
Allergens (e.g. bee sting)
What is the classical presentation of nephrotic syndrome?
Frothy urine – caused by significant proteinuria
Oedema – pitting and gravitational
Periorbital oedema (particular on waking) 🡪 earliest sign
Scrotal, vulval, leg and ankle oedema
Ascites
Breathlessness due to pleural effusions and abdominal distention
What is the pathological process of congenital nephrotic syndrome?
Present in first 3 months of life
Rare, very serious
ESRF and need for dialysis (if survival past first 6-12 months)
High mortality
What are the features indicative of steroid sensitive nephrotic syndrome?
Age 1-10 years
Often precipitated by respiratory infections
No macroscopic haematuria
Normal BP
Normal complement levels
Normal renal function
No features to suggest nephritis
Responds to steroids
Normally shows “minimal change” on histology
What is the classic pattern of disease in steroid sensitive nephrotic syndrome?
Recurrent relapses throughout childhood
5% of cases continue into adult life
Treat with steroids
If continues through whole life - may need steroid sparing agent such as methotrexate
What are the features suggestive of steroid resistant nephrotic syndrome?
Older children
Haematuria
Low complement levels (the complement levels build up in the kidneys, may precede SLE)
Associtaed with hepatitis B
What is the prognosis of steroid resistant nephrotic syndrome?
30% respond to ESRF in 5 years
20% respond to cytotoxic medications
Most spontaneously remit in 5 years
What investigations must be done for nephrotic syndrome?
Urine dipstick – looking for protein in particular
FBC and ESR
U&E, creatinine, albumin
Complement levels – C3 and C4
Antistreptolysin O titre and throat swab
Urine MC&S
Urine sodium concentration
Hepatitis B antigen
How do you treat steroid sensitive nephrotic syndrome?
Standard course of oral prednisolone for first episode
Treat with steroids again for subsequent episodes
Consider MTX if recurs all the time
Restrict sodium and water intake and use diuretics until oedema settles
Pen V
Measles and chickenpox immunity
How do you treat steroid resistant nephrotic syndrome?
Manage oedema – diuretics, salt and fluid restriction, ACEis
Could try a cytotoxic medication such as methotrexate
What is the difference between glomerular haematuria and lower urinary tract haematuria?
Glomerular haematuria – brown urine, deformed red cells, presence of casts, often accompanied by proteinuria
Lower urinary tract – red urine, occurs at the beginning or end of urinary stream, not accompanied by proteinuria
What is the most common cause for haematuria in children?
Urinary tract infection
NB haematuria will be alongside all the other symptoms associated with UTI (loin pain, dysuria, increased frequency)
What are the non-glomerular causes of haematuria?
Infection
Trauma
Stones (esp. if there’s a family history)
Sickle cell disease
Bleeding disorders
Renal vein thrombosis
Malignancy – Wilm’s tumour
What are the glomerular causes of haematuria in paeds?
Acute glomerulonephritis
Chronic glomerulonephritis
IgA nephropathy (Berger’s disease)
Familial nephritis
Post strep glomerulonephritis
Vasculitis – HSP (triad of rash, abdominal pain, arthritis)
Goodpasture’s syndrome – anti-GBM disease – very rare, will also cause haemoptysis
What investigations do you do in a patient with haematuria?
Urine dipstick
Urine MC&S
Urine protein and calcium
USS – kidneys and urinary tract
FBC, U&E, platelets, clotting screen
Creatinine and albumin
Throat swab and anti-streptolysin O titre
ESR & complement levels
What are the indications for renal biopsy in a patient with haematuria?
Recurrent macroscopic haematuria
Suspicion of familial nephritis
Abnormal renal function
Abnormal complement levels
Proteinuria
What is nephritic syndrome?
Aka acute nephritis, glomerular nephritis
Haematuria (often macroscopic)
Proteinuria – varying degree
Impaired GFR – rising creatinine
Salt and water retention – hypertension, oedema
What causes nephritic syndrome?
Usually follows a strep throat or skin infection (post streptococcal glomerulonephritis)
Vasculitis – HSP, SLE, Wegner’s, PNA
IgA nephropathy (Berger’s disease)
Goodpasture’s syndrome
Familial nephritis (Alport’s syndrome, X-linked)
Which type of streptococcus is generally responsible for nephritis?
Group A beta haemolytic strep (strep pyogenes)
How do you investigate an episode of suspected post-streptococcal glomerulonephritis?
FBC
U&E – increased urea and creatinine, hyperkalaemic acidosis
C3 and C4 – may be low
Anti-streptolysin O titre – raised
Throat/skin swabs
Urinalysis – haematuria, raised protein on dipstick, RBCs
How do you manage acute nephritis?
Fluid and electrolyte balance
Treat hypertension – diuretics
Correction of other imbalances – potassium, acidosis
Penicillin – treatment of streptococcal infection if needed
The nephritis usually setles by itself, may need steroids
Monitor urine output and creatinine
What is cryptorchidism?
Undescended testes
The testes has been arrested along its normal pathway of descent
What is a risk factor for undescended testes?
Prematurity
What are the 3 different classifications of undescended testes?
Retractile
Palpable
Impalpable
What is a retractile undescended testicle?
Can be manipulated into the bottom of the scrotum
But as soon as you let go it retracts into the inguinal region – pulled up by the cremaster muscle
Usually present later as hard to notice on neonatal check
Eventually the testes should permanently reside in the scrotum
But does require follow-up to check
What is a palpable undescended testicle?
Can be palpated in the groin
But cannot be manipulated into the scrotum
Occasionally testes can be ectopic (outside the normal line of descent) so may be felt in the perineum or femoral triangle
What is an impalpable undescended testicle?
No testis can be felt on detailed examination
The testis may be intra-abdominal, in the inguinal canal or completely absent
What investigations would you do for suspected undescended testis?
Genital examination – in a warm room, warm hands, relaxed child. Try and “milk” the testes into the scrotum
Ultrasound scan
Hormonal investigations
Karyotype
Laparoscopy – investigation of choice to look for an impalpable testicle (see whether it’s completely absent or just abdominal)
What is the treatment for cryptorchidism?
Orchidopexy – surgical placement of the testis in the scrotum
If testicles absent altogther – start on testosterone replacement therapy around the age of 10 (start of puberty) and consider testicular prosthesis for cosmetic purposes
Why is it important to treat cryptorchidism?
Fertility – is at risk if the testes are not within the scrotum
Malignancy – greater risk in undescended testes
Cosmetic and psychological reasons
What is the clinical presentation of testicular torsion?
Tender, red, painful testicle
Abdominal pain
Vomiting
Which age groups are affected by testicular torsion?
Neonatal and puberty are the peak ages for incidence
But can happen at any age
So have a low threshold for investigation
How do you investigate and treat testicular torsion?
Doppler ultrasound scan – demonstrates decreased blood flow (as torsion of the spermatic cord results in testicular ischaemia)
Surgical intervention – emergency – needs operating to un-tort within 6 hours
If the testicle is dead – orchidectomy
When should malignancy be considered in paediatrics?
In any child whose condition does not resolve or respond to treatment in the normal way
Do not be afraid to challenge the original diagnosis
If in doubt – retake a full history
What is the most common cause of lymphadenopathy in children?
Very common – affects up to 50% of children
Most commonly due to a self-limiting benign cause (i.e. cough/cold)
What are some other causes of lymphadenopathy in children?
HIV
Autoimmune conditions
Glycogen storage disorder
Malignancy
What are the indications for biopsy of an enlarged lymph node?
Enlarging node without clear infective cause
Persistent
Unusual site e.g. supraclavicular – typically indicated mediastinal mass
If there’s associated signs and symptoms that are worrying (i.e. anaemia, bruising)
Fever, weight loss, enlarged liver/spleen
If abnormal CXR or respiratory symptoms
Which is the most common childhood malignancy?
Acute lymphoblastic leukaemia (ALL)
Followed by brain tumours
Which cell type is affected by leukaemia?
Precursors to B and T cells
So affects the blood and bone marrow
What is the prognosis of ALL and what are some indicators of good prognosis?
About 80% cure rate
Good prognostic indicators:
Age 2-10
Female
WCC < 50
No CNS disease
What are some risk factors for ALL?
Down’s syndrome
Immune compromisation – HIV, organ transplant and therefore on immunosuppressants
What causes the symptoms of ALL?
Bone marrow infiltration
Organ infiltration
With leukaemic blast cells
What are the presenting symptoms of ALL?
SYMPTOMS OF PANCYTOPENIA:
Infections (due to neutropenia)
Lethargy and pallor (due to anaemia)
Abnormal bruising, petechiae, nose bleeds (due to pancytopenia)
ALWAYS ask about the other symptoms if they present with any of these
Malaise
Anorexia
Hepatosplenomegaly
Lymphadenopathy (lumps and bumps)
Bone pain (due to bone marrow infiltration)
Which symptoms occur more commonly in ALL relapse?
CNS infiltration – headaches, vomiting, nerve palsies
Testicular enlargement
What is the typical speed of onset of ALL symptoms?
Insidious onset over around 4 weeks
May have had a non-specific prodrome for several months
What is the gold standard diagnosis for ALL?
Bone marrow aspirate
What other investigations should be done for ALL?
BLOOD COUNT showing:
Low Hb (anaemia)
Thrombocytopenia
Evidence of circulating blast cells
WCC may be up or down
Neutropenia
LP
CXR
What are the stages of chemotherapy treatment for ALL?
Induction
Consolidation and CNS treatment
Intensification
Maintenance (2 years for girls, 3 years for boys – as boys have a higher incidence of recurrence, particularly in the testes)
Which chemotherapy medications are used in ALL?
Vincristine
Plus a steroid such as dexamethasone
What is another option for treatment of ALL other than chemotherapy?
Haemopoetic stem cell transplant
This can be given in high risk patients in the first episode of disease
Or for those who relapse
What are some late effects of ALL & its treatment that could affect children into their adult life?
Psychological impact of childhood cancer – always mental health screen them
Family and social impact
Fertility – offer freeze eggs/sperm before treatment
Growth impact
CNS development
Cardiac and renal toxicity
Delayed puberty
Risk of recurrence is a large worry
Which characteristic cell type would you see on a film in Hodgkin’s lymphoma?
Reed-Sternberg cells
How does non-Hodgkin’s lymphoma present in childhood?
T-cell malignancies – mediastinal mass plus bone marrow infiltration (anaemia, bruising, infections)
B-cell malignancies – localised lymphadenopathy in head, neck or abdomen
Adominal disease – pain, mass, intussusception/obstruction
How does Hodgkin’s lymphoma present?
Painless lymphadenopathy – most commonly in the neck
LARGER AND FIRMER lymph nodes than in benign lymphadenopathy
Often has a long history
Systemic ‘B’ symptoms:
Sweating
Pruritus
Weight loss
Fever
How are the lymphomas investigated?
NHL – stage with CT/MRI, bone marrow aspirate, CSF sample
Hodgkin’s – diagnostic lymph node biopsy, intra-adominal disease assessed radiologically
How are the lymphomas treated and what is their prognosis in children?
NHL - multi-agent chemotherapy
Hodgkin’s – chemo +/- radiotherapy
About 80% cure rate
What is the pathological/aetiological difference between brain tumours in adults and children?
In adults - brain tumours are normally secondary from another cancer elsewhere
In children – brain tumours are almost always primary
What types of primary brain tumour are seen in paediatrics?
Astrocytoma – 40% (this includes glioblastoma multiforme)
Medulloblastoma - 20%
Ependymoma – 8%
Brain stem glioma – 6%
Craniopharyngioma – 4%
How do brain tumours present in children?
Broadly – signs of Raised ICP and focal neurological signs of wherever the tumour is located
What are the symptoms of brain tumour in children?
Headache (early morning, worse when lying down) – raised ICP
Vomiting (especially when waking in the mornings)
Papilloedema
Squint secondary to 6th nerve palsy
Nystagmus
Ataxia
Seizures/epilepsy
Personality/behavioural change
Headaches + personality change 🡪 consider raised ICP
Headaches are an extremely common symptom in children. Which features are an indication to scan?
If there’s eye signs – papilloedema, decreased acuity, visual loss
If other neurological signs develop (nystagmus etc.)
If recurrent and early morning
If associated with vomiting
If there’s short stature/decelerated growth
If there’s symptoms of diabetes insipidus or other endocrine disorders
If < 3 years
If the child has NF1
Which method of imagining would give the best view of a brain tumour? And which other investigation should you avoid in a child with signs of raised ICP?
MRI scans are the best way to look at tumours
Do not perform LP if signs of raised ICP
How are brain tumours in children treated?
Surgery is the best option if the tumour is operable
Radiotherapy – stereotactic gamma knife is worth a try
Chemotherpay
Brain tumours have a poor prognosis, however some do survive. What are the long term complications of brain tumours and their treatment?
Outcome depends on where the tumour was and how well the surgery cleared it/how much healthy brain tissue was removed alongside the tumour
Survivors may face – neurological disability, growth problems, endocrine problems, and neuropsychological problems
What is a neuroblastoma?
Tumours of neural crest tissue
In the ADRENAL MEDULLA AND SYMPATHETIC NERVOUS SYSTEM
NOT BRAIN TUMOURS
Can be benign (ganglioneuroma) or malignant (neuroblastoma)
Which age group are most commonly affected by neuroblastomas?
Most common < 5 years
How do neuroblastomas present?
Abdominal mass – if the tumour is in the adrenals (most common site)
Mass anywhere along sympathetic chain 🡪 may lead to spinal cord compression
Miserable child with big abdomen 🡪 think neuroblastoma
What investigations would you do for a neuroblastoma?
MRI/CT
Urinary catecholamines - raised
Biopsy
Bone marrow sampling
MIBG – metaiodobenzynl guanidine
How is neuroblastoma treated?
Surgery – for localised disease
Chemo – advanced disease (symptoms of advanced disease = bone pain, pancytopenia, weight loss, malaise)
What is the most common renal cancer in childhood?
Wilm’s tumour
80% present < 5 years
Rare > 10 years
Originates from embryonal renal tissue
What is the main cause/risk factor of Wilm’s tumour?
FAMILY HISTORY
Wilm’s tumour susceptibility gene
How does Wilm’s tumour present?
Large abdominal mass
Otherwise well child
PANLESS haematuria
Sometimes hypertension, poor appetite, poor weight gain
5% have bilateral disease at diagnosis
How is Wilm’s tumour investigated?
USS/CT/MRI
Staging to assess for mets – usually in the lungs
How is Wilm’s tumour treated?
Chemotherapy for 6 months to shrink tumour(s)
Nephrectomy – full if only one kidney, partial if both kidneys affected
Radiotherapy
80% cure
What is the most common type of soft-tissue tumour in children?
Rhabdomyosarcoma
Usually in the head/neck
What are the 2 types of bone tumour seen in paeds and who is more at risk, boys or girls?
Osteogenic sarcoma
Ewing’s sarcoma
Both are more common in males
How do bone tumours present?
Persistent localised bone pain
Mass
Limbs most common site
Well child at diagnosis
How are bone tumours investigated?
X-Ray – mass, destruction, periosteal new bone formation
CT scan to determine extent of diesease
How are bone tumours treated?
Neoadjuvant chemotherapy
Surgery – try and remove the tumour but preserve the limb, amputation avoided where possible
Ewing’s – radiotherapy manages local disease
What is retinoblastoma and what causes it?
Malignant tumour of the retinal cells of the eye
Can affect one or both eyes
All bilateral tumours = hereditary
15% of unilateral cases = heriditary
Autosomal dominant inheritance (incomplete penetrance)
Retinoblastoma susceptibility gene on chromosome 13
What is the most common presentation of retinoblastoma?
Abnormal red reflex seen in flash photography
WHITE PUPILLARY REFLEX replaces the normal red one
Screened for in NIPE
Can also present with decreased visual acuity and nystagmus
How would you investigate retinoblastoma?
Full ocular examination – fundoscopy
Biopsy
Genetic testing
Genetic counselling
How is retinoblastoma treated?
Aim of treatment = get rid of cancer, preserve as much vision as possible
May need to remove the eye (enucleation) in advanced cases
Chemotherapy
Local laser treatment
Most are cured but visually impaired
Large risk of secondary malignancy (especially sarcoma)
Liver tumours are rare in paediatrics. But how would it present?
Abdominal distention/mass
Sometimes jaundice
Primary liver tumours in neonates = haemangioma
How would you investigate suspected liver malignancy?
USS/CT/MRI
Serum alfafetoprotein
How do germ cell tumours present and how are the investigated?
Lump – sacrococcygeal region or gonads
Investigate - serum AFP and serum BCG
Treatment – chemo, good outcome
What is Langerhan’s cell histiocytosis?
Abnormal prolieration of histiocytes (stationary phagocytic cells in connective tissue)
Not truly malignant
Can be aggressive and responds to chemotherapy
How does Langerhan’s cell histiocytosis present?
Spectrum of disease from localised bone lesions = systemic /vague presentation
Bone lesions – pain, swelling, fractures (often in skull)
Diabetes insipidus – due to skull disease
Rash
Soft tissue involvement (gums, ears, spleen, LNs, bone marrow)
Recurrent discharging ear
How is LCH investigated?
XR – characteristic lytic lesions with well defined border (often in skull)
Full skeletal survey to identify multiple lesions
How is LCH treated?
Bone lesions – biopsy
Diabetes insipidus – long-term treatment with desmopressin usually required
Systemic - chemotherapy, variable prognosis
What is the most common cause of anaemia in childhood?
Iron deficiency
What is the role of HbF?
Has a higher affinity for oxygen than adult Hb so the foetus can survive the lower oxygen concentrations in the womb
Switches gradually to HbA
By 6 months, most of the HbF is HbA
Why are premature infants susceptible to anaemia?
Not fully developed = insufficient EPO production
Protein content of breastmilk not sufficiency for haemopoesis in premature infants
Signs and symptoms - apnoea, poor weight gain, pallor, decreased activity, tachycardia
What are the 3 mechanisms for anaemia?
Reduced/impaired red cell production (iron deficiency, red cell aplasia)
Increased red cell destruction – haemolysis
Blood loss – relatively uncommon in children
How does anaemia present in paeds?
Young infants – slow feeding/may seem breathless
Children – tire easily
Pale conjunctiva, tongue or palmar creases
Irritability
Tachycardia
Pica – eating non-food materials
Iron deficiency – behavioural problems/reduced intellectual function
Malabsorption picture
Hepatomegaly, splenomegaly, jaundice – if haemolysis
What investigations are needed for an anaemic child?
Full blood count
Haematinics
Reticulocyte count (high circulating reticulocytes indicated haemolysis)
Bone marrow investigation
If a baby presents at < 24 hours with jaundice, what test would you like to do?
Jaundice at < 24 hours is often due to haemolysis
Do a Coomb’s test (ABO incompatibility/Rh incompatibility)
How is iron deficiency anaemia treated?
Dietary advice (red meat, brocolli, kale)
Oral iron supplement
How is sickle cell anaemia treated?
Antibiotic prophylaxis – twice daily penicillin against pneumococcus
Treatment of acute crises – analgesia, hydration, oxygen
Exchange transfusion – acute chest, stroke, priapism
Treatment of chronic problems – hydroxyurea, hydroxycarbamide (these increase the level of feotal haemoglobin which replaces the sickle haemoglobin)
Really dangerous if they get Parvovirus B19 (slapped cheek) – causes aplastic crisis. Need good hydration and oxygen
How is thalassaemia treated?
Thalassaemia = they are missing part of the haemoglobin molecule
Treatment - regular blood transfusions, frequency depends on severity of the disease
Iron chelation to prevent iron overload (which can lead to liver failure, cardiomyopathy, heart failure, pancreatic dysfunction)
Bone marrow transplant as a last resort
What is aplastic anaemia?
Bone marrow failure – the bone marrow is not producing any blood cells
Characterised by reduction or absence in all 3 main lineages in the bone marrow – leading to peripheral pancytopenia
(Platelets come from megakaryocytes)
What are the causes of aplastic anaemia?
Idiopathic
Viruses – hepatitis
Drugs – chemotherapy, sulphonamides (antibiotics)
Toxins - benzene, glue
Fanconi anaemia – autosomal recessive, short stature, abnormal radii and thumbs, micropthalmia, skin lesions, renal malformations
Schwachman-Diamond syndrome – autosomal recessive, bone marrow failure, pancreatic exocrine failure, skeletal abnormalities
How does aplastic anaemia present and what are the main differential diagnoses?
Anaemia
Infection
Bruising and bleeding
Symptoms of pancytopenia so DDX = blood cancers such as leukaemia and lymphoma
How is aplastic anaemia investigated?
Full blood count
Bone marrow studies
How is aplastic anaemia treated?
Address underlying cause
Supportive treatment (fluids, antibiotics) – wait for them to return to full health i.e. if it’s due to chemo etc.
Bone marrow transplant if severe
What are some causes of acquired bleeding disorders?
Vitamin K deficiency
Liver disease – cannot produce clotting factors or store vit A, D, E and K effectively
Thrombocytopenia – idiopathic thrombocytopenic purpura following viral infections in young children
What are some inherited causes for bleeding disorder?
Haemophilia A (factor 8 deficiency) and B (factor 9 deficiency) – X linked recessive, more common in boys, usually presents with recurrent spontaneous bleeds into joints and muscles around 1 year of age
Von-Willebrand’s disease – autosomal dominant, presents with mucosal bleeding (e.g. epistaxis, menorrhagia) or excessive bleeding after surgery
Which other condition puts girls at risk of having X-Linked disorders such as haemophilia?
Turner’s syndrome
45, XO
They don’t have the protection from the extra X chromosome
What is the difference in typical presentations of haemophilia and VWD?
Haemophilia – tends to cause big bleeds into joints
VWD – mucosal bleeding (epistaxis, gum bleeds, menorrhagia)
How does thrombocytopenia present?
Petechiae/purpura
Easy bruising
What is the triad of symptoms for HSP?
Purpura
Arthritis
Abdominal pain
What investigations need to be done in a patient with suspected bleeding disorder?
FBC and blood film
Prothrombin time – measures factors 2, 5, 7, 10
Activated partial prothrombin time
Thrombin time
Quantitative fibrinogen assay
D-Dimers
Biochemical screen including renal and liver function
Which are the vitamin K dependant clotting factors?
10
9
7
2
(1972)
How do you manage acquired clotting disorder?
Vitamin K injection – given to all neonates, supplements given in children
Diagnose and treat any liver disease
Platelet infusion if thrombocytopenia
How are haemophilia A and B treated?
Recombinant factor 8 for A
Recombinant factor 9 for B
How is VWD treated?
Mild – desmopressin
Severe – plasma derived factor 8 concentrate
What are the inherited causes of thrombosis in children?
Protein C deficiency
Protein S deficiency
Anti-thrombin deficiency
Factor V Leiden deficiency
What are some acquired causes of thrombosis in children?
Catheter related – i.e. during an investigation
DIC
Hypernatraemia
Polycythaemia (due to congenial heart disease or placental insufficiency in utero)
Malignancy
SLE
How does thrombosis in children manifest?
Inherited conditions – present with venous thrombosis in 2nd or 3rd decade
Thrombosis of cerebral vessels = stroke
”purpura fulminans” – widespread haemorrhage and purpura into the skin in the neonatal period
What are the indications for screening for inherited thrombophilia in children?
Any child with venous thrombosis
Ischaemic skin lesions
Neonatal purpura fulminans
Positive family history of purpura fulminans
Known family history of clotting disorder
How are clotting disorders treated?
Warfarin
NOACs
What are the 3 core behaviours associated with ADHD?
Inattention
Impulsivity
Hyperactivity
NB – these symptoms occur in every child occasionally, but when they are persistent and impact on daily function, more investigations are needed
What are some risk factors for ADHD?
Boys 4x more likely than girls
Prematurity
Low socio-economic status
Other psychiatric disorders – Asperger’s, Tic, ODD
CNS insults – perinatal infections, meningitis, fetal alcohol syndrome
What are the symptoms of inattention in ADHD?
Easily distracted
Does not appear to listen when spoken to
Forgetful in daily activities
Loses important items
Finds it difficult to follow instructions/complete tasks
Makes careless mistakes
What are the symptoms of hyperactivity in ADHD?
”can’t sit still”
Runs or climbs excessively
Appears to be constantly “on the go” and “driven by a motor”
Talks excessively
Cannot perform leisurely activities quietly
What are the symptoms of impulsivity in ADHD?
Blurts answers before questions are completed
Has difficult awaiting turn
Interrupts or intrudes on others
Teenagers get into big trouble for impulsive behaviour 🡪 more likely to have car accidents/get pregnant
How is ADHD assessed?
Clinical diagnosis - take a history
Assessment in school and at home (need to exhibit the behaviour in more than 1 domain)
Information from teachers, school reports, family members, previous doctors reports and notes
How is ADHD treated?
Education
ADHD parenting program
Support from school
Medications – methylphenidate (a CNS stimulant)
What are the cardinal symptoms of Autism spectrum disorder?
Impaired social interaction
Speech and language disorder
Imposition of routines, with ritualistic and repetitive behaviour
How might autism spectrum disorder present?
Lack of desire to communicate at all
Repeats speech – echolalia
Won’t hold eye contact
Poor body language
Unable to understand sarcasm
Doesn’t play imaginatively
Has obsessions and rituals
Regression in development – i.e. they started to talk and then stopped
Does not like change
How is autism spectrum disorder managed?
MDT approach – liaise with school, nurses, GP, educational classes for parents
Using things like picture-based timetables they can tick off when they do something to get them through the day
Visual clues avoid anxiety
Manage associated co-morbidities
What are the diagnostic criteria for anorexia nervosa?
Body weight < 15% expected for age and height
Self-induced weight loss – avoiding food, vomiting, laxatives, excessive exercise
Body image distortion
HPG axis disorder – delayed puberty, loss of sexual interest and potency
What are some risk factors for anorexia nervosa?
Female gender
High achiever
Friendship issues
Stressful life events to trigger the process
Middle class
Complex family dynamic
Bereavement
Domestic/ sexual abuse
Being overweight as a child
What are some physical effects on the body of anorexia nervosa?
Cognitive effects
Muscle wasting – eventually affects the heart leading to CCF, can’t squat down and stand up without touching anything
Osteoporosis
Extra hair growing
Constipation
Can’t maintain body temperature
Teeth – dental erosions due to vomiting
What screening tool would you use to assess risk in someone you think may have anorexia?
SCOFF questionnaire:
1. S – do you ever make yourself sick?
2. C – do you feel like you lose control when you eat?
3. O – have you lost more than One stone in a 3 month period?
4. F – do you believe yourself to be fat?
5. F – does food dominate your life?
How is anorexia managed?
MARSIPAN tool
Externalising the anorexia is a first line step of treatment – name the anorexia, dissociate it from the young person and try and address it as a separate entity
Aim for slow and steady weight gain in the community
Family approach and individual therapy
MDT approach – GP, CAHMS counselling, dietician
Medications – SSRIs, antipsychotics (if they have body dismorphic disorder) and vitamin replacements as required
What is the importance of slow and steady weight gain and food intake in anorexia?
Risk of RE-FEEDING SYNDROME
When the body is starved for a long time giving glucose can be dangerous
The body starts taking up glucose and excreting potassium and sodium
Causes re-feeding hepatitis
What is the prognosis of anorexia nervosa?
1/3 recover
1/3 relapse and remit
1/3 chronic lifelong illness
What is an important differential for scalded skin syndrome?
Stephen Johnson syndrome
Disorder usually caused by infections or drugs
Causes peeling of the skin, hands and mucosal changes
High mortality
What causes scalded skin syndrome and how do you treat it?
Caused by staph aureus
Treatment – fluid rehydration, IV flucloxacillin
What clinical features would differentiate meningococcal septicaemia from HSP?
HSP rash looks very much like meningococcal rash (non-blanching, purpuric)
But the child will be well and afebrile compared to a septic child
Meningococcal rash will be all over the body
HSP rash generally sticks to the lower limbs and buttocks
HSP triad – abdo pain, purpura, arthritis
If in doubt – treat as meningococcal sepsis
What type of skin disorder might you see in a child with insulin resistance?
Acanthosis nigricans
This child will also be obese
How does the distribution of eczema differ in babies and children?
In babies – tends to be on their face and trunk
Past age of 1 – can be generalised but tends to occur in the creases
What type of rash is it if it’s triggered when the child goes out in the sun, gets hot or cold?
Urticaria
What is the main purpose for screening for congenital hypothyroidism in the newborn blood spot?
It causes severe neurological dysfunction which leads to severe learning difficulties later In life
Relatively common – affects 1 in 4000 births
What is the main cause congenital hypothyroidism a) worldwide b) in the UK and c) in consanguinous families?
Worldwide – iodine deficiency
UK – mal-descent ent of thyroid/absent thyroid
Consanguinous families – dyshormonogenesis (inborn error of thyroid hormone synthesis)
How does congenital hypothyroidism present?
PICKED UP ON GUTHRIE TEST – antenatal screening
But if not picked up
Failure to thrive
Jaundice
Feeding problems
Hoarse cry
Goitre
Delayed development
What is the treatment for congenital hypothyroidism?
Lifelong oral replacement of thyroxine (if due to maldescent, athyrosis or dyshormonogenesis)
Titrate dose to maintain normal growth
What is the most important biochemical test to indicate long-term well controlled thyroid disease?
Normal TSH levels
What is the most common cause of hypothyroidism in children?
Autoimmune thyroiditis (Hashimoto’s?)
Symptoms the same as in adult hypothyroidism
What is the most common cause for hyperthyroidism in children? What are the risk factors?
Grave’s diesease
More common in girls
More common in people with another autoimmune disease (Type 1 diabetes, coeliac disease)
Symptoms same as in adult thyroid disease
How is hyperthyroidism treated?
Carbimazole
Propylthiouracil
Either by a dose titration or block and replace with thyroxine
What are the actions of insulin?
Acts to lower the blood glucose level
Does this by stimulating glucose uptake from the blood into – muscle, kidney and fat cells
Targets the liver to convert glucose into glycogen
How does T1DM mellitus present?
Either picked up by chance on a random plasma glucose
Or – polydipsia, polyuria, weight loss, fatigue
What are the symptoms of DKA?
Smell of acetone on breath (pear drops)
Vomiting
Dehydration
Abdominal pain
Hyperventilation due to acidosis (Kussmaul breathing)
Hypovolemic shock
Drowsiness
Coma
What metabolic abnormality in the blood is seen in DKA?
Hypokalaemic
Hypochloraemic
Metabolic acidosis
How do you treat DKA?
Aggressive fluid resuscitation before anything else
Insulin
Potassium
Glucose
Hourly obs
watch closely and rehydrate slowly
What condition do you risk if you rehydrate a child in DKA too quickly?
Cerebral oedema
What are the symptoms of hypoglycaemia?
Irritable
Nauseous
Shaky
Sweaty
Pale
Dizzy
Confused
Drowsy
Odd behaviour
Hypo seizure – convulsions can occur
What are some hypo phenomena?
Hypo unawareness
Rebound hypoglycaemia
Rebound hyperglycaemia
Dawn phenomena – morning rise in blood sugar
What blood tests are needed for a diagnosis of diabetes?
Random plasma glucose ≥ 11.1 mmol/l
Fasting plasma glucose ≥ 7.0 mmol/l
HbA1c > 6.5% (or > 48 mmol/l)
How should a mild/moderate hypo be managed?
Check BM to confirm
Glucose tablets/glucogel / 3 jelly babies
Follow up with longer acting carbohydrate e.g. sandwhich
Check BMs again after 15 mins
How do you manage a severe hypo?
Do not attempt to give anything by mouth
Glucagon – SC or IM injection (0.5mg if < 5 years, 1mg if > 5 years)
Wait 10 mins
When conscious give longer acting carb
What area of the body is the main source of limp in children?
Hip
Then leg
Then knee
Then thigh
Then foot (least likely to be limping due to a foot problem)
What are some common causes of limp in children?
Transient synovitis (post-infectious)
Slipped upper femoral epiphysis
Reactive arthritis
DDH
Septic arthritis
Duchenne’s
Osteomyelitis
Perthe’s disease – avascular necrosis of the femoral head
Cancer – Ewing’s, osteogenic sarcoma
What is the typical presentation of transient synovitis?
Limping unhappy child
Post viral- after cough, cold
Limp
< ROM
NB – HIP PROBLEMS CAN OFTEN PRESENT AS KNEE PAIN
How would you investigate a limping unhappy child?
FULL HISTORY – including recent illnesses such as coughs and colds
EXAMINE FROM HEAD TO TOE
Urgent inflammatory markers
Ultrasound the joint to look for thickening of capsule or effusion
What is the presentation of a slipped upper femoral epiphysis?
Traumatic acute limping child
History important
Age 7-16 years
Not weightbaring
Externally rotated hip
KNEE PAIN
Consider congenital insensitivity to pain – these patients can dislocate joints without realising
What are the differential diagnosis for a limping unwell (pyrexic) child?
Septic arthritis and oesteomyelitis
They will be systemically unwell and pyrexic
«_space;ROM (limb tends to be completely immobile)
What investigations do you do for a septic limping child?
History
Examination – red, hot, swollen extremely tender joint
FBC, WCC, ESR, CRP
X ray the affected joint
USS joint capsule
Blood cultures
Joint aspiration for cultures
Which infecting organisms cause septic arthritis in babies, under 4s and >4s/adolescents?
Infants – group B strep, staph aureus, coliforms
Children up to 4 – staph aureus, pneumococcus, haemophilus influenza
Children >4/adolescents – staph aureus, gonococcus
What would the differential diagnoses be for a CHRONIC limping child?
Perthe’s disease
SUFE
DDH (developmental dyplasia of the hip)
Spinal problems
Juvenile idiopathic arthritis
Bone tumours – there is often a PALPABLE MASS
Foot deformities
What is the typical presentation of Perthe’s disease?
4-8 years old
Unilateral hip pain
Limp
Family history
< ROM, < internal and external rotation
There is often apparent shortening of one of the legs
How does a chronic slipped upper femoral epiphysis present?
9-16 years old
Chronic (> 3 weeks)
Pain – knee, thigh, hip
STEROTYPE – MALE, LOWER SOCIOECONOMIC STATUS, PARENTS SMOKE
Slightly overweight child
Comes on gradually
More common in children with endocrine issues
Surgical emergency
How does developmental dysplasia of the hip (DDH) present?
Should be picked up on NIPE but can be a late presenter
Leg length discrepency
Reduced abduction
Otherwise well
Typically “waddle” when they walk
What sign can be elicited to demonstrate DDH?
Galleaze sign
Child is laying down on the bed with their feet flat against the bed
Positive test = knees are different heights
Limited abduction on dislocated hip
How may a diagnosis of growing pains be reached?
Diagnosis of exclusion
Growing pains are common
Females > males
Usually bilaterla
DO NOT CAUSE LIMP and won’t have any systemic features
Last thing you reach for if you cannot explain the pain
What are some essential questions to ask in a limp history?
Pain?
Unwell in general?
Onset – sudden or gradual?
What type of limp?
Can the problem be localised?
Has it improved, got worse or stayed the same?
What are the 3 rockers of gait?
1 = heel off
2 = flat
3 = toe off
What causes a positive Trendelenberg test?
Pathology = abductor dysfunction
Can be caused by - hip dysplasia, fracture that hasn’t healed, neurologcal injury, low grade long-term bone infection
Which test would you perform on a child in whom you suspected muscular dystrophy?
Gower test
How do you treat septic arthritis or osteomyelitis?
Aspiration/drainage of the pus in the joint
Antibiotics – often flucloxacillin because the infection is often caused by staph aureus
What is the definition of juvenile idiopathic arthritis?
Onset before 16th birthday
No identified underlying cause
Persistent joint swelling/inflammation
Lasting at least 6 weeks (i.e. it’s not reactive arthritis)
What causes JIA?
Unknown
What are the X ray features seen in JIA?
Due to the inflammatory nature of JIA, this will be the same as the joint features seen in RA
Loss of joint space
Joint deformity
Soft tissue swelling
Periarticular osteopenia
How does JIA present?
Persistent joint swelling
Limping/functional disability
Pain
Joint stiffness (particularly in the morning)
Decreased ROM
Joint deformity
Warmth
Colour change
What are the subtypes of JIA?
Oligo articular – affects < 4 joints, big joints mainly
Polyarticular – affects > 4 joints, small joints mainly
Psoriatic – associated with nail pitting, dactylitis, family history
Entethesis related
Systemic arthritis – generalised inflammatory signs all over the body eg. Fever, rash, lymphadenopathy, hepatosplenomegaly
What is the most important systems examination to do in a child with suspected JIA?
GAIT – screening test for all sorts of joint problems
How is JIA treated?
Oligo - inject the affected joints with steroid
Poly – system therapy - methotrexate is the safest and best option, NOT steroids in kids
After 3 months if no response – start biologic (e.g. infliximab, adalamumab)
What is the prognosis of JIA?
50% “grow out of it” and will no longer need treatment
50% will have chronic lifelong disease
How is osteoporosis defined in children?
1 or more vertebral crush fractures
2 or more long bone fractures by the age of 10
3 or more by 19
Bone density less than 2.5 SDs below the mean
What are the causes of osteoporosis in children?
Inherited/congenital:
Osteogenesis imperfecta
Haematological problems
Acquired:
Drug induced – particularly steroids (even ICS for asthma)
Endocrinopathies – hypoparathyroidism (low calcium)
Malabsorption
Immobilisation e.g. disabilities
Inflammation and inflammatory disorders
Which type of osteogenesis imperfecta is lethal and what is the cause of death?
Type 2 is fatal
Child dies very early because the chest is too small to allow breathing
They have a lot of rib fractures (sometimes caused by the birth process) and their lungs don’t function at all
What inheritance pattern in seen in osteogenesis imperfecta and what protein defect is seen?
Autosomal dominant
Defects in type 1 collagen genes – the type of collagen in bones
How does osteogenesis imperfecta present?
Bone fragility, fractures and deformity
Bone pain
Impaired mobility
Poor growth – much smaller than children of the same age
Deafness
Poor muscle mass
Hernia
Valvular prolapse, aortic dissection
Lovely happy smiley children compared to what you’d expect
What eye sign do you see in children with OI?
Blue tinted sclera
What are some X-Ray features you’d see in OI?
Wormian bones (wiggly black lines in the skull) – feels like bubble wrap under your fingers if you feel their skull
Bent bones - e.g. bent tibia
Bowing of the femur
Complete chest collapse in type 2 OI – fatal
Which members of the MDT are involved in the care of an OI patient?
Child and their family
Metabolic bone doctors
Pain team
Physiotherapy
Occupational therapy
Specialist nurse
Dietician
School and teachers
Which medications can be used in OI?
Bisphosphonates – pamidronate
Prefer to give IV
These help increase lumbar spine and total body bone mass
What is Rickett’s and what causes it?
”Bent bones” e.g. bow legs due to under mineralisation of the bones
Occurs due to vitamin D deficiency
What is the paediatric recommended daily vitamin D intake?
400mg
What are some risk factors for vitamin D deficiency?
Insufficient maternal vitamin D during pregnancy
Lack of child’s exposure to sunlight
Dark skin
Lack of vitamin D in diet – prolonged un-supplemented breastfeeding
What is the role of vitamin D?
Increases calcium absorption from the gut
Increases calcium release from the bone
Decreases calcium excretion by the kidneys
Role in immune function/tolerance
How dose vitamin D deficiency present?
Bowed leg deformity
Hypocalcaemia convulsions
Gross motor delay
Incidental X-Ray finding
Swollen ankle
Carpopedal spasm
How is Rickett’s investigated?
History
Examination
Biochemistry – serum calcium levels low, raised PTH levels
XR – bowed legs, splayed metaphyses, frayed metaphyses
How do you treat vitamin D deficiency?
Vitamin D supplement
NOT the active metabolite – give them the inactive form because as long as they don’t have kidney or liver disease they will be able to convert it themselves
What is the definition of seizures?
A neurological event causing a sudden disturbance of neurological function due to excessive discharge of neurones
What are some causes of seizures in children?
Epilepsy
Febrile convulsions
Metabolic – hypo seizures, hypocalcaemia
Head trauma
Infection - meningitis, encephalitis, brain abscess
Poisons/toxins – amphetamines/stimulants
Iatrogenic – post brain surgery
What age do children get febrile convulsions?
6 months – 6 years
They usually have a genetic predisposition
What are some causes of funny turns in children?
Breath holding attacks – cries, holds breath, goes blue, recovers quickly
Reflex anoxic seizures – triggered by pain, cold food, fright, fever
Syncope
Migraine
Benign paroxysmal vertigo - associated with nsytagmus, unsteadiness, viral labrynthitis
Arrythmias
Non-epileptic attack disorders
Fabricated by a parent
What is the difference between generalised and focal seizures?
Generalised – discharge arises from both hemispheres (absence, myoclonic, tonic, tonic-clonic, atonic)
Focal – seizures arise from one part of the brain (so will only affect for example their right hand)
What are the symptoms of a temporal lobe seizure?
Strange warning feelings/aura - smell, taste, visual, ‘rising sensation’
Automatisms – lip smacking, plucking clothing, pacing
De ja vu and jamais vu
Impaired consciousness – longer duration than a typical absence seizure
How are seizures investigated?
WITNESS HISTORY is important – it is often a clinical diagnosis
History from patient esp. family history and birth/development
EEG
Blood tests
Metabolic investigations
How is epilepsy managed?
Explanation of diagnosis
MDT approach – family, school, doctors, specialist nurses, OT
Anti-epileptic medications – valproate, lamotrigine, carbamazepine
Which anti-epileptic drug should be avoided in absence and myoclonic seizures?
Carbamazepine
Define cerebral palsy
A disorder of movement and posture due to a non-progressive lesion of motor pathways in the developing brain
The symptoms develop over time as the child starts to develop – the specific deficits due to the non-progressive lesion becomes apparent
What additional problems will children with CP often have on top of their movement and posture trouble?
Epilepsy
Squints
Visual impairment
Speech and language disorders due to hearing problems
Behaviour problems
Feeding problems
Joint contractures
Hip subluxation
Scoliosis
What are the causes of cerebral palsy?
Antenatal (80%) – genetic syndromes, congenital malformations, congenital infections
Hypoxic-ischaemic injury at birth (10%)
Postnatal (10%) – intraventricular haemorrhage in premies, meningitis, encephalitis, trauma, NAI, hydrocephalus, kernicterus du to hyperbilirubinaemia
What are the early features of CP?
Abnormal limb tone (head and trunk hypo, limbs hyper)
Abnormal limb and trunk posture
Delayed motor milestones
Feeding difficulties – oromotor incoordination, slow feeding, gagging, vomiting
Abnormal gait
Hand preference before 12 months of age
Persistent primitive reflexes beyond 6 months of age
What are the 3 main types of CP?
Spastic (70%)
Ataxic hypotonic (10%)
Dyskinetic (10%)
10% will have a mixed picture of this
Which motor tract is involved in spastic CP and what are the features?
UMN pathways affected – pyramidal or corticospinal
Features – increased limb tone (spasticity), brisk deep tendon reflexes, extensor plantar response (positive Babinski sign), increased tone may suddenly yeild under pressure (clasp knife)
What are the 3 main types of spastic CP?
Hemiplegic
Quadriplegic
Diplegic
What are the features of hemiplegic CP?
They will have one “bad side”
Unilateral involvement of arm and leg
Arm usually worse
Face spared
Tip-toe walking
Fisting and flexion of the affected arm
What are the features of quadriplegic CP?
All 4 limbs affected
Arms usually worse
Trunk involved – extensor posturing, poor head control, low central tone
Seizures
Microcephaly
Learning difficulites
What are the features of diplegic CP?
All 4 limbs affected
But LEGS WORSE – so arm function appears relatively normal
Walking is abnormal
What are the features of ataxic CP and which part of the brain is affected?
Symmetrical
Early trunk and limb hypotonia
Poor balance
Delayed motor development
Signs – ataxic gait, intention tremor
Cerebellar signs – so shows cerebellum is affected
What are the features of dyskinetic CP and which part of the brain is involved?
Fluctuating tone
Involuntary movements
Chorea, dystonia
Intellect unimparied
Basal ganglia are affected (extra-pyramidal)
How should CP be investigated?
MRI brain – helps identify cause of CP
CLINICAL DIAGNOSIS – assessment of pattern of tone in the limbs and trunk, posture, hand function, gait, reflexes, developmental assessment
Which members of the MDT are involved in the care of a child with CP?
Doctors
Physiotherapists – to help with the tone and posture problems
SALT – to help with swallowing problems
OT – if any adjustments at home needed
Child and parents
School – especially the special educational needs team
What treatment can be given to help with symptoms of hypertonia/spasticity?
Baclofen – oral or intra-thecal
Oral diazepam
Botox injection
Orthopaedic surgery
Why is it important to measure head circumference in children?
It’s an accurate representation of brain size and development
Microcephaly – can indicate the brain has not formed properly, particularly if it’s sloped at the front, and could mean they will have learning difficulties
Macrocephaly – can indicate a child has hydrocephalus or SOL
BEWARE – small babies will have small heads!! Compare to their centile for weight and length. If they are on 2nd centile for everything they are just small. If they are on 6th for weight and length and 2nd for head, their head is too small
Which types of fluids can be used for maintenance in children?
0.45% sodium chloride + 5% dextrose
0.9% sodium chloride + 5% dextrose
What is the RATE for maintenance fluids in children?
100, 50, 20
100 mls/kg/day for the first 10kg
50 mls/kg/day for the next 10kg (so up to 20kg)
20 mls/kg/day for every kg after
So how much fluid must be given to a 23 kg child?
(100 x 10) + (50 x 10) + (20 x 3) = 1560 ml/24 hours (1 day)
So hourly rate = 1560/24
= 65ml/hour
What fluid maintenance is needed for babies on the first day they are born?
10% dextrose only
Do not need saline on day 1
What are the 2 situations in which you’d give a fluid bolus in paeds?
Hypoglycaemia
Hypovolaemia (shock)
What fluid bolus is given for hypoglycaemia?
10% dextrose
2mls/kg stat
So what fluids would be given to a 15kg child with hypoglycaemia?
15 x 2 = 30
30mls bolus of 10% dextrose
What fluid type and dose is given for hypovolaemia?
NORMAL SALINE 0.9% (even in newborn babies)
20mls/kg stat
What fluid is given for dehydration?
Correction of dehydration = % dehydration x 10 x weight in kg
What are some risk factors for child abuse?
Parental mental health problem
Low socioeconomic status/deprivation
Parental learning difficulty
Alcohol and substance misuse
“Difficult child”
Disabled child
Preterm infants
Born to substance misusers
What are some features of a history in a child that would make you feel concerned about abuse/NAI?
History that does not fit with the visible injuries:
Too many injuries
Wrong site
Unusual shape or pattern
Wrong type of incident
Delay in presenting to hospital (old injuries)
No history
A history that changes
What are “normal” places for children to bruise?
Shins – external bony bits
Knees
Elbows
Toddlers – bumps on heads from walking into things
Where are some places bruises do not “normally” occur?
Abdomen
Genitalia
Insides of arms and legs (bits that are tucked away)
Behind the neck/any other soft bits
Young babies that cannot roll over or move yet should not have any bruises at all – massive red flag.
RIB FRACTURES IN BABIES also very specific for NAI
What kind of brain event occurs in “shaken baby” syndrome?
Subdural haematoma
What is the definition of neglect?
A standard of care that does not meet the needs of a child
Types – food and drink, warmth, education, emotional support
How do you investigate potential abuse/neglect?
Medical assessment
Lab tests – FBC and platelets if they are prone to clotting
Swabs – skin sores (could be impetigo etc.)
Bone profile if fractures (calcium, vit D, PTH)
Skeletal survey
Developmental assessment
Social services assessment
How may a UTI present in a baby and what is the most likely causative organism?
Miserable
Pyrexia
Temperture
Vomiting
E.Coli
Treatment – IV cefuroxime and USS urinary tract system
By which mechanism can E. Coli become resistant to penicillin?
By producing beta lactamase
Breaks down the beta lactam part of the antibiotic making it uneffective
Meningitis is a notifiable disease. Who needs notifying?
Public Health England
What is a complication of pneumonia which may be a reason why they do not respond to antibiotic treatment?
Empyema
Will never resolve by antibiotics
Needs surgical drainage
What is the danger of an inguinal hernia and how do you differentiate it from a hydrocele?
Potential to cause bowel obstruction or perforation
Hernia – cannot get above it in examination
Hydrocele – you can get above it
What are features that differentiate thyroglossal cysts, branchial cysts and demoid cysts on the head/neck?
Thyroglossal – midline, smooth, moves when they stick their tongue out
Branchial – NOT in the midline, tend to appear along the border of the sternocleidomastoid
Dermoids – lateral aspect of the eye, produce sebaceous material. Beware because can communicate intracranially and cause meningitis
What do you worry about in a child with bilious vomiting?
Bowel obstruction
Either due to intussusception, malrotation, volvulus etc
If a baby is vomiting and “bringing up their knees” what is your main differential?
Intussusception
If you can see bowel up in the lungs on an X- Ray in a baby, what’s the diagnosis?
Congenital diaphragmatic hernia
