Paeds Flashcards
Acute lymphoblastic leukaemia
Acute lymphoblastic leukaemia (ALL) is the most common malignancy affecting children and accounts for 80% of childhood leukaemias. The peak incidence is at around 2-5 years of age and boys are affected slightly more commonly than girls
Features may be divided into those predictable by bone marrow failure:
anaemia: lethargy and pallor
neutropaenia: frequent or severe infections
thrombocytopenia: easy bruising, petechiae
And other features
bone pain (secondary to bone marrow infiltration)
splenomegaly
hepatomegaly
fever is present in up to 50% of new cases (representing infection or constitutional symptom)
testicular swelling
Types
common ALL (75%), CD10 present, pre-B phenotype
T-cell ALL (20%)
B-cell ALL (5%)
Poor prognostic factors age < 2 years or > 10 years WBC > 20 * 109/l at diagnosis T or B cell surface markers non-Caucasian male sex
traffic light’ system for risk stratification of children under the age of 5 years presenting with a fever
Assessment
The following should be recorded in all febrile children: temperature heart rate respiratory rate capillary refill time
Signs of dehydration (reduced skin turgor, cool extremities etc) should also be looked for
Measuring temperature should be done with an electronic thermometer in the axilla if the child is < 4 weeks or with an electronic/chemical dot thermometer in the axilla or an infra-red tympanic thermometer.
Duchenne muscular dystrophy
- X-linked recessive inherited disorder in the dystrophin genes required for normal muscular function
Features
progressive proximal muscle weakness from 5 years
calf pseudohypertrophy
Gower’s sign: child uses arms to stand up from a squatted position
30% of patients have intellectual impairment
Investigation
raised creatinine kinase
genetic testing has now replaced muscle biopsy as the way to obtain a definitive diagnosis
Management
is largely supportive as unfortunately there is currently no effective treatment
Prognosis
most children cannot walk by the age of 12 years
patients typically survive to around the age of 25-30 years
associated with dilated cardiomyopathy
Diarrhoea in children
Gastroenteritis
- main risk dehydration
- most common cause - rota virus
- treatment rehydration
Chronic diarrheas
Infants
most common cause in the developed world is cows’ milk intolerance
toddler diarrhoea: stools vary in consistency, often contain undigested food
coeliac disease
post-gastroenteritis lactose intolerance
Pyloric stenosis
M>F
5-10% Family history in parents
Projectile non bile stained vomiting at 4-6 weeks of life
Diagnosis is made by test feed or USS
Treatment: Ramstedt pyloromyotomy (open or laparoscopic)
Acute appendicitis
Uncommon under 3 years
When occurs may present atypically
Mesenteric adenitis
Central abdominal pain and URTI
Conservative management
Mesenteric adenitis is a condition that more often affects children and teenagers. It causes inflammation and swelling in the lymph nodes inside the abdomen.
Intussusception
Telescoping bowel
Proximal to or at the level of, ileocaecal valve
6-9 months of age
Colicky pain, diarrhoea and vomiting, sausage-shaped mass, red jelly stool.
Treatment: reduction with air insufflation
Malrotation
High caecum at the midline
Feature in exomphalos, congenital diaphragmatic hernia, intrinsic duodenal atresia
May be complicated by the development of volvulus, an infant with volvulus may have bile stained vomiting
Diagnosis is made by upper GI contrast study and USS
Treatment is by laparotomy, if volvulus is present (or at high risk of occurring then a Ladd’s procedure is performed
exompthalos
an abdominal wall (tummy wall) defect. It happens when a baby’s abdominal wall does not develop fully while in the womb.
congenital diaphragmatic hernia
Congenital diaphragmatic hernia (CDH) is a defect in an unborn baby’s diaphragm, the muscle that divides the chest cavity and abdominal cavity. CDH occurs when the diaphragm does not close the right way during the baby’s development and abdominal organs push (“herniate”) through the defect into the chest cavity.
intrinsic duodenal atresia
Duodenal atresia is a disease of newborn infants. Absence or complete closure (atresia) of a portion of the channel (lumen)
Hirschsprung’s disease
Absence of ganglion cells from myenteric and submucosal plexuses
Occurs in 1/5000 births
Full-thickness rectal biopsy for diagnosis
Delayed passage of meconium and abdominal distension
Treatment is with rectal washouts initially, after that an anorectal pull through procedure
Oesophageal atresia
ssociated with tracheo-oesophageal fistula and polyhydramnios
May present with choking and cyanotic spells following aspiration
VACTERL associations
Meconium ileus
Usually delayed passage of meconium and abdominal distension
The majority have cystic fibrosis
X-Rays will not show a fluid level as the meconium is viscid, PR contrast studies may dislodge meconium plugs and be therapeutic
Infants who do not respond to PR contrast and NG N-acetyl cysteine will require surgery to remove the plugs
Biliary atresia
Jaundice > 14 days
Increased conjugated bilirubin
Urgent Kasai procedure
Necrotising enterocolitis
Prematurity is the main risk factor
Early features include abdominal distension and passage of bloody stools
X-Rays may show pneumatosis intestinalis and evidence of free air
Increased risk when empirical antibiotics are given to infants beyond 5 days
Treatment is with total gut rest and TPN, babies with perforations will require laparotomy
Nocturnal enuresis
The majority of children achieve day and night time continence by 3 or 4 years of age. Enuresis may be defined as the ‘involuntary discharge of urine by day or night or both, in a child aged 5 years or older, in the absence of congenital or acquired defects of the nervous system or urinary tract’
Nocturnal enuresis can be defined as either primary (the child has never achieved continence) or secondary (the child has been dry for at least 6 months before)
Management look for possible underlying causes/triggers constipation diabetes mellitus UTI if recent onset general advice fluid intake toileting patterns: encourage to empty bladder regularly during the day and before sleep lifting and waking reward systems (e.g. Star charts) NICE recommend these 'should be given for agreed behaviour rather than dry nights' e.g. Using the toilet to pass urine before sleep enuresis alarm generally first-line for children have sensor pads that sense wetness high success rate desmopressin particularly if short-term control is needed (e.g. for sleepovers) or an enuresis alarm has been ineffective/is not acceptable to the family
Necrotising enterocolitis
Abdominal x-rays are useful when diagnosing necrotising enterocolitis, as they can show:
dilated bowel loops (often asymmetrical in distribution)
bowel wall oedema
pneumatosis intestinalis (intramural gas)
portal venous gas
pneumoperitoneum resulting from perforation
air both inside and outside of the bowel wall (Rigler sign)
air outlining the falciform ligament (football sign)
Fallot’s tetralogy
-cyanotic congenital heart disease and presents with ventricular septal defect, right ventricular hypertrophy, overriding aorta, and pulmonary stenosis.
Coarctation of the aorta
This is a congenital narrowing of the aorta and would present with absent/weak femoral pulses; hypertension in arms but hypotension in legs.
Transposition of the great arteries
Transposition of the great arteries is where the aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. It presents mainly as cyanosis in children.
Ebstein’s anomaly
Ebstein’s anomaly results in low insertion of the tricuspid valve resulting in a large right atrium and small right ventricle causing tricuspid incompetence.
Patent ductus arteriosus
failure of the ductus arteriosus to close after birth causing a left-right shunting and would present as a loud continuous murmur with bounding pulses and a wide pulse pressure.
ebstein anomaly
Ebstein’s anomaly is a congenital heart defect characterised by low insertion of the tricuspid valve resulting in a large atrium and small ventricle. It is sometimes referred to as ‘atrialisation’ of the right ventricle.
Ebstein’s anomaly may be caused by exposure to lithium in-utero.
Associations
patent foramen ovale (PFO) or atrial septal defect (ASD) is seen in at least 80% of patients, resulting in a shunt between the right and left atria
Wolff-Parkinson White syndrome
Clinical features
cyanosis
prominent ‘a’ wave in the distended jugular venous pulse,
hepatomegaly
tricuspid regurgitation
pansystolic murmur, worse on inspiration
right bundle branch block → widely split S1 and S2
Jaundice <24h of birth
is always pathological and your differentials are:
rhesus haemolytic disease (RHD)
ABO incompatibility
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
hereditary spherocytosis
A blood film will show bite and blister cells in G6PD deficiency or spherocytes in hereditary spherocytosis. It would be correct to say that an osmotic fragility test would also be useful in the diagnosis but that option is not provided. Another useful test would be a Coomb’s test (this would be positive in RHD).
An exchange transfusion might be necessary but it is pertinent to understand the underlying cause; phototherapy is the first line management option.
A urine sample and thyroid function tests would be useful in prolonged jaundice (>14 days in term / >21 days in premature infants) because urinary tract infection or hypothyroidism may be the underlying cause.
Jaundice in the neonate from 2-14 days
Jaundice in the neonate from 2-14 days is common (up to 40%) and usually physiological. It is due to a combination of factors, including more red blood cells, more fragile red blood cells and less developed liver function.
It is more commonly seen in breastfed babies
Jaundice after 14 days (prolonged)
If there are still signs of jaundice after 14 days (21 days if premature) a prolonged jaundice screen is performed, including:
conjugated and unconjugated bilirubin: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention
direct antiglobulin test (Coombs’ test)
TFTs
FBC and blood film
urine for MC&S and reducing sugars
U&Es and LFTs
Causes of prolonged jaundice
biliary atresia
hypothyroidism
galactosaemia
urinary tract infection
breast milk jaundice
jaundice is more common in breastfed babies
mechanism is not fully understood but thought to be due to high concentrations of beta-glucuronidase → increase in intestinal absorption of unconjugated bilirubin
prematurity
due to immature liver function
increased risk of kernicterus
congenital infections e.g. CMV, toxoplasmosis
Kawasaki disease medium vessel vasculitis
Kawasaki disease is a type of vasculitis which is predominately seen in children. Whilst Kawasaki disease is uncommon it is important to recognise as it may cause potentially serious complications, including coronary artery aneurysms.
Features
high-grade fever which lasts for > 5 days. Fever is characteristically resistant to antipyretics
conjunctival injection
bright red, cracked lips
strawberry tongue
cervical lymphadenopathy
red palms of the hands and the soles of the feet which later peel
Kawasaki disease is a clinical diagnosis as there is no specific diagnostic test.
Management
high-dose aspirin
Kawasaki disease is one of the few indications for the use of aspirin in children. Due to the risk of Reye’s syndrome aspirin is normally contraindicated in children
intravenous immunoglobulin
echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms
Complications
coronary artery aneurysm
Dyskinetic cerebral palsy
Athetosis is a symptom characterized by slow, involuntary, convoluted, writhing movements of the fingers, hands, toes, and feet
Dyskinetic cerebral palsy is correct. This child is presenting with general symptoms of cerebral palsy - namely being slow to meet developmental milestones and feeding difficulties. This child is displaying symptoms of dyskinetic cerebral palsy, a subtype of cerebral palsy. Key symptoms that differentiate dyskinetic cerebral palsy from other subtypes are athetoid movements and oro-motor problems. The athetoid movements are shown in this stem by the slow writhing movements of his hands and feet and also the difficulty of holding onto objects. Patients with dyskinetic cerebral palsy experience difficulty in holding objects due to fluctuating muscle tone. The oro-motor problems are evidenced by this child’s drooling.
Cerebral palsy
Cerebral palsy may be defined as a disorder of movement and posture due to a non-progressive lesion of the motor pathways in the developing brain. It affects 2 in 1,000 live births and is the most common cause of major motor impairment.
Causes
antenatal (80%): e.g. cerebral malformation and congenital infection (rubella, toxoplasmosis, CMV)
intrapartum (10%): birth asphyxia/trauma
postnatal (10%): intraventricular haemorrhage, meningitis, head-trauma
Possible manifestations include: abnormal tone early infancy delayed motor milestones abnormal gait feeding difficulties.
Children with cerebral palsy often have associated non-motor problems such as: learning difficulties (60%) epilepsy (30%) squints (30%) hearing impairment (20%)
Classification
spastic (70%)
subtypes include hemiplegia, diplegia or quadriplegia
increased tone resulting from damage to upper motor neurons
dyskinetic
caused by damage to the basal ganglia and the substantia nigra
athetoid movements and oro-motor problems
ataxic
caused by damage to the cerebellum with typical cerebellar signs
mixed
Management
as with any child with a chronic condition a multidisciplinary approach is needed
treatments for spasticity include oral diazepam, oral and intrathecal baclofen, botulinum toxin type A, orthopaedic surgery and selective dorsal rhizotomy
anticonvulsants, analgesia as required
Turner’s syndrome
Turner’s syndrome is a chromosomal disorder affecting around 1 in 2,500 females. It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes.
Turner’s syndrome is denoted as 45,XO or 45,X.
Features
short stature
shield chest, widely spaced nipples
webbed neck
bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
primary amenorrhoea
cystic hygroma (often diagnosed prenatally)
high-arched palate
short fourth metacarpal
multiple pigmented naevi
lymphoedema in neonates (especially feet)
gonadotrophin levels will be elevated
hypothyroidism is much more common in Turner’s
horseshoe kidney: the most common renal abnormality in Turner’s syndrome
There is also an increased incidence of autoimmune disease (especially autoimmune thyroiditis) and Crohn’s disease
Scarlet fever
Scarlet fever is a reaction to erythrogenic toxins produced by Group A haemolytic streptococci (usually Streptococcus pyogenes). It is more common in children aged 2 - 6 years with the peak incidence being at 4 years.
Scarlet fever is spread via the respiratory route by inhaling or ingesting respiratory droplets or by direct contact with nose and throat discharges, (especially during sneezing and coughing).
Scarlet fever has an incubation period of 2-4 days and typically presents with:
fever: typically lasts 24 to 48 hours
malaise, headache, nausea/vomiting
sore throat
‘strawberry’ tongue
rash
fine punctate erythema (‘pinhead’) which generally appears first on the torso and spares the palms and soles
children often have a flushed appearance with circumoral pallor. The rash is often more obvious in the flexures
it is often described as having a rough ‘sandpaper’ texture
desquamination occurs later in the course of the illness, particularly around the fingers and toes
Diagnosis
a throat swab is normally taken but antibiotic treatment should be commenced immediately, rather than waiting for the results
Management
oral penicillin V for 10 days
patients who have a penicillin allergy should be given azithromycin
children can return to school 24 hours after commencing antibiotics
scarlet fever is a notifiable disease
Scarlet fever is usually a mild illness but may be complicated by:
otitis media: the most common complication
rheumatic fever: typically occurs 20 days after infection
acute glomerulonephritis: typically occurs 10 days after infection
invasive complications (e.g. bacteraemia, meningitis, necrotizing fasciitis) are rare but may present acutely with life-threatening illness
Apgar score
A score of 0-3 is very low score, between 4-6 is moderate low and between 7 - 10 means the baby is in a good state
Pulse resp rate colour muscle tone reflex irratibillity
Croup
Croup is a form of upper respiratory tract infection seen in infants and toddlers. It is characterised by stridor which is caused by a combination of laryngeal oedema and secretions. Parainfluenza viruses account for the majority of cases.
Epidemiology
peak incidence at 6 months - 3 years
more common in autumn
Features stridor barking cough (worse at night) fever coryzal symptoms
CKS suggest admitting any child with moderate or severe croup. Other features which should prompt admission include:
< 6 months of age
known upper airway abnormalities (e.g. Laryngomalacia, Down’s syndrome)
uncertainty about diagnosis (important differentials include acute epiglottitis, bacterial tracheitis, peritonsillar abscess and foreign body inhalation)
Investigations
the vast majority of children are diagnosed clinically
however, if a chest x-ray is done:
a posterior-anterior view will show subglottic narrowing, commonly called the ‘steeple sign’
in contrast, a lateral view in acute epiglottis will show swelling of the epiglottis - the ‘thumb sign’
Management
CKS recommend giving a single dose of oral dexamethasone (0.15mg/kg) to all children regardless of severity
prednisolone is an alternative if dexamethasone is not available
Emergency treatment
high-flow oxygen
nebulised adrenaline
apnoa
transient cessation of respiration whether normal
Neonatal resuscitation guidelines
Birth: Dry the baby, remove any wet towels and cover and start the clock or note the time.
Within 30 seconds: Assess tone, breathing and heart rate.
Within 60 seconds: If gasping or not breathing - open the airway and give 5 inflation breaths
Re-assess: If no increase in heart rate look for chest movement
If chest not moving: Recheck head position, consider 2-person airway control and other airway manoeuvres, repeat inflation breaths and look for a response.
If no increase in heart rate look for chest movement
When the chest is moving: If heart rate is not detectable or slow (< 60 min-1) - start chest compressions with 3 compressions to each breath.
Reassess heart rate every 30 seconds. If heart rate is not detectable or slow (<60 beats per minute) consider venous access and drugs
basic life support (BLS) guidelines, infants (children under 1 year)
femoral and brachial pulse assessed
2015 Resuscitation Council guidelines made the following changes to paediatric basic life support
compression:ventilation ratio: lay rescuers should use a ratio of 30:2. If there are two or more rescuers with a duty to respond then a ratio of 15:2 should be used
age definitions: an infant is a child under 1 year, a child is between 1 year and puberty
Key points of algorithm (please see link attached for more details)
unresponsive?
shout for help
open airway
look, listen, feel for breathing
give 5 rescue breaths
check for signs of circulation
infants use brachial or femoral pulse, children use femoral pulse
15 chest compressions:2 rescue breaths (see above)
chest compressions should be 100-120/min for both infants and children
depth: depress the lower half of the sternum by at least one-third of the anterior–posterior dimension of the chest (which is approximately 4 cm for an infant and 5 cm for a child)
in children: compress the lower half of the sternum
in infants: use a two-thumb encircling technique for chest compression
Intussusception
Intussusception describes the invagination of one portion of bowel into the lumen of the adjacent bowel, most commonly around the ileo-caecal region.
Intussusception usually affects infants between 6-18 months old. Boys are affected twice as often as girls
Features
paroxysmal abdominal colic pain
during paroxysm the infant will characteristically draw their knees up and turn pale
vomiting
bloodstained stool - ‘red-currant jelly’ - is a late sign
sausage-shaped mass in the right upper quadrant
Investigation
ultrasound is now the investigation of choice and may show a target-like mass
Management
the majority of children can be treated with reduction by air insufflation under radiological control, which is now widely used first-line compared to the traditional barium enema
if this fails, or the child has signs of peritonitis, surgery is performed
Developmental dysplasia of the hip
Developmental dysplasia of the hip (DDH) is gradually replacing the old term ‘congenital dislocation of the hip’ (CDH). It affects around 1-3% of newborns.
Risk factors female sex: 6 times greater risk breech presentation positive family history firstborn children oligohydramnios birth weight > 5 kg congenital calcaneovalgus foot deformity
DDH is slightly more common in the left hip. Around 20% of cases are bilateral.
Screening for DDH
the following infants require a routine ultrasound examination
first-degree family history of hip problems in early life
breech presentation at or after 36 weeks gestation, irrespective of presentation at birth or mode of delivery
multiple pregnancy
all infants are screened at both the newborn check and also the six-week baby check using the Barlow and Ortolani tests
Clinical examination
Barlow test: attempts to dislocate an articulated femoral head
Ortolani test: attempts to relocate a dislocated femoral head
other important factors include:
symmetry of leg length
level of knees when hips and knees are bilaterally flexed
restricted abduction of the hip in flexion
Imaging
ultrasound is generally used to confirm the diagnosis if clinically suspected
however, if the infant is > 4.5 months then x-ray is the first line investigation
Management
most unstable hips will spontaneously stabilise by 3-6 weeks of age
Pavlik harness (dynamic flexion-abduction orthosis) in children younger than 4-5 months
older children may require surgery
Napkin rashes
General management points
disposable nappies are preferable to towel nappies
expose napkin area to air when possible
apply barrier cream (e.g. Zinc and castor oil)
mild steroid cream (e.g. 1% hydrocortisone) in severe cases
management of suspected candidal nappy rash is with a topical imidazole. Cease the use of a barrier cream until the candida has settled
Vesicoureteric reflux
Vesicoureteric reflux (VUR) is the abnormal backflow of urine from the bladder into the ureter and kidney. It is a relatively common abnormality of the urinary tract in children and predisposes to urinary tract infection (UTI), being found in around 30% of children who present with a UTI. As around 35% of children develop renal scarring it is important to investigate for VUR in children following a UTI
Pathophysiology of VUR
ureters are displaced laterally, entering the bladder in a more perpendicular fashion than at an angle
therefore shortened intramural course of the ureter
vesicoureteric junction cannot, therefore, function adequately
Possible presentations
antenatal period: hydronephrosis on ultrasound
recurrent childhood urinary tract infections
reflux nephropathy
term used to describe chronic pyelonephritis secondary to VUR
commonest cause of chronic pyelonephritis
renal scar may produce increased quantities of renin causing hypertension
Investigation
VUR is normally diagnosed following a micturating cystourethrogram
a DMSA scan may also be performed to look for renal scarring
The table below summarises the grading of VUR
Febrile convulsions
Febrile convulsions are seizures provoked by fever in otherwise normal children. They typically occur between the ages of 6 months and 5 years and are seen in 3% of children.
Clinical features
usually occur early in a viral infection as the temperature rises rapidly
seizures are usually brief, lasting less than 5 minutes
are most commonly tonic-clonic
Management following a seizure
children who have had a first seizure OR any features of a complex seizure should be admitted to paediatrics
Prognosis
the overall risk of further febrile convulsion = 1 in 3. However, this varies widely depending on risk factors for further seizure. These include: age of onset < 18 months, fever < 39ºC, shorter duration of fever before seizure and a family history of febrile convulsions
if recurrences, try teaching parents how to use rectal diazepam or buccal midazolam. Parents should be advised to phone for an ambulance if the seizure lasts > 5 minutes
regular antipyretics have not been shown to reduce the chance of a febrile seizure occurring
Link to epilepsy
risk factors for developing epilepsy include a family history of epilepsy, having complex febrile seizures and a background of neurodevelopmental disorder
children with no risk factors have 2.5% risk of developing epilepsy
if children have all 3 features the risk of developing epilepsy is much higher (e.g. 50%)
Cleft lip and palate
Cleft lip and palate affect around 1 in every 1,000 babies. They are the most common congenital deformity affecting the orofacial structures. Whilst they may be an isolated developmental malformation they are also a recognised component of more than 200 birth defects.
The commonest variants are:
isolated cleft lip (15%)
isolated cleft palate (40%)
combined cleft lip and palate (45%)
Pathophysiology
polygenic inheritance
maternal antiepileptic use increases risk
cleft lip results from failure of the fronto-nasal and maxillary processes to fuse
cleft palate results from failure of the palatine processes and the nasal septum to fuse
Problems
feeding: orthodontic devices may be helpful
speech: with speech therapy 75% of children develop normal speech
increased risk of otitis media for cleft palate babies
Management
cleft lip is repaired earlier than cleft palate, with practices varying from repair in the first week of life to three months
cleft palates are typically repaired between 6-12 months of age
Transient tachypnoea of the newborn
Transient tachypnoea of the newborn (TTN) is the commonest cause of respiratory distress in the newborn period. It is caused by delayed resorption of fluid in the lungs
It is more common following caesarean sections, possibly due to the lung fluid not being ‘squeezed out’ during the passage through the birth canal
Chest x-ray may show hyperinflation of the lungs and fluid in the horizontal fissure.
Management
observation, supportive care
supplementary oxygen may be required to maintain oxygen saturations
Transient tachypnoea of the newborn usually settles within 1-2 days
Williams syndrome
William’s syndrome is an inherited neurodevelopmental disorder caused by a microdeletion on chromosome 7
Features elfin-like facies characteristic like affect - very friendly and social learning difficulties short stature transient neonatal hypercalcaemia supravalvular aortic stenosis
Diagnosis is made by FISH studies
elfin facies
strabismus
broad forehead
short stature
Duchenne muscular dystrophy
dilated cardiomyopathy
Transient tachypnoea of the newborn
Transient tachypnoea of the newborn (TTN) is the commonest cause of respiratory distress in the newborn period. It is caused by delayed resorption of fluid in the lungs
It is more common following caesarean sections, possibly due to the lung fluid not being ‘squeezed out’ during the passage through the birth canal
Chest x-ray may show hyperinflation of the lungs and fluid in the horizontal fissure.
Management
observation, supportive care
supplementary oxygen may be required to maintain oxygen saturations
Transient tachypnoea of the newborn usually settles within 1-2 days
Acute Lymphoblastic Leukaemia
peak incidence of 2-5 years
affects slightly more boys than girls and accounts for 80% of childhood leukaemias. It is the most common malignancy affecting children. There is not a strong family correlation, although some genetic disorders, such as Down’s syndrome, increase the likelihood of developing the disease.
consent
The GMC guidance on consent in children is extensive. In short, when a child lacks capacity, consent from one parent is sufficient to administer treatment as long as it is in the best interests of the child. Additionally, though Dawn may lack capacity, encouraging her involvement in the decision-making process is important.
Meningitis in children - investigations
Investigations
Contraindication to lumbar puncture (any signs of raised ICP) focal neurological signs papilloedema significant bulging of the fontanelle disseminated intravascular coagulation signs of cerebral herniation
For patients with meningococcal septicaemia a lumbar puncture is contraindicated - blood cultures and PCR for meningococcus should be obtained.
Contraindications to lumbar puncture
(any signs of raised ICP)
focal neurological signs papilloedema significant bulging of the fontanelle disseminated intravascular coagulation signs of cerebral herniation
For patients with meningococcal septicaemia a lumbar puncture is contraindicated - blood cultures and PCR for meningococcus should be obtained.
Management of meningitis in children
- Antibiotics
< 3 months: IV amoxicillin (or ampicillin) + IV cefotaxime
> 3 months: IV cefotaxime (or ceftriaxone) - Steroids
NICE advise against giving corticosteroids in children younger than 3 months
dexamethsone should be considered if the lumbar puncture reveals any of the following:
frankly purulent CSF
CSF white blood cell count greater than 1000/microlitre
raised CSF white blood cell count with protein concentration greater than 1 g/litre
bacteria on Gram stain - Fluids
treat any shock, e.g. with colloid - Cerebral monitoring
mechanical ventilation if respiratory impairment - Public health notification and antibiotic prophylaxis of contacts
ciprofloxacin is now preferred over rifampicin
Threadworms
- extremely common helminths in children
- infection occurs via the ingestion of eggs present in the environment
- asymptomatic but it can cause perianal itching, particularly at night
- Most patients are treated empirically without having to confirm the diagnosis, with hygiene suggestions and mebendazole.
Infestation with threadworms (Enterobius vermicularis, sometimes called pinworms) is extremely common amongst children in the UK. Infestation occurs after swallowing eggs that are present in the environment.
Threadworm infestation is asymptomatic in around 90% of cases, possible features include:
perianal itching, particularly at night
girls may have vulval symptoms
Diagnosis may be made by the applying Sellotape to the perianal area and sending it to the laboratory for microscopy to see the eggs. However, most patients are treated empirically and this approach is supported in the CKS guidelines.
Management
CKS recommend a combination of anthelmintic with hygiene measures for all members of the household
mebendazole is used first-line for children > 6 months old. A single dose is given unless infestation persists
Capacity
Capacity is time and decision dependent. If in the past the patient has not had capacity to make a decision, but today for this decision you feel she has, the only consent you need is from her.
Kawasaki disease
- medium vessel vasculitis
Features:
- high-grade fever last >5days (resistant to antipyretics)
- conjunctival infection
- bright red, cracked lips
- strawberry tongue
cervical lymphadenopathy
- red palms of the hand and the soles of the fee which later peels
Management
high-dose aspirin
Kawasaki disease is one of the few indications for the use of aspirin in children. Due to the risk of Reye’s syndrome aspirin is normally contraindicated in children
intravenous immunoglobulin
echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms
UTI in childhood
Urinary tract infections (UTI) are more common in boys until 3 months of age (due to more congenital abnormalities) after which the incidence is substantially higher in girls.
At least 8% of girls and 2% of boys will have a UTI in childhood
Presentation of UTI based on age
Presentation in childhood depends on age:
infants: poor feeding, vomiting, irritability
younger children: abdominal pain, fever, dysuria
older children: dysuria, frequency, haematuria
features which may suggest an upper UTI include: temperature > 38ºC, loin pain/tenderness
NICE guidelines for checking urine sample in a child
If there are any symptoms or signs suggestive or a UTI
with unexplained fever of 38°C or higher (test urine after 24 hours at the latest)
with an alternative site of infection but who remain unwell (consider urine test after 24 hours at the latest)
Urine collection method
clean catch is preferable
if not possible then urine collection pads should be used
cotton wool balls, gauze and sanitary towels are not suitable
invasive methods such as suprapubic aspiration should only be used if non-invasive methods are not possible
Management of UTI
infants less than 3 months old should be referred immediately to a paediatrician
children aged more than 3 months old with an upper UTI should be considered for admission to hospital. If not admitted oral antibiotics such as cephalosporin or co-amoxiclav should be given for 7-10 days
children aged more than 3 months old with a lower UTI should be treated with oral antibiotics for 3 days according to local guidelines, usually trimethoprim, nitrofurantoin, cephalosporin or amoxicillin. Parents should be asked to bring the children back if they remain unwell after 24-48 hours
antibiotic prophylaxis is not given after the first UTI but should be considered with recurrent UTIs
Intraventricular haemorrhage
haemorrhage that occurs into the ventricular system of the brain. It is relatively rare in adult surgical practice and when it does occur, it is typically associated with severe head injuries. In premature neonates it may occur spontaneously. The blood may clot and occlude CSF flow, hydrocephalus may result.
In neonatal practice the vast majority of IVH occur in the first 72 hours after birth, the aetiology is not well understood and it is suggested to occur as a result of birth trauma combined with cellular hypoxia, together the with the delicate neonatal CNS.
Caput succedaneum
caused by pressure on the fetal scalp during the birthing process. It results in a large oedematous swelling and bruising over the scalp. Treatment is not required as the swelling reduces over a few days.
cephalohaematoma
occur after a spontaneous vaginal delivery or following a trauma from the obstetric forceps or the ventouse. A haemorrhage results after the presidium is sheared from the parietal bone. The tense swelling is limited to the outline of the bone. It reduces over a few weeks - months.
Subaponeurotic haemorrhage
subgaleal haemorrhage is rare and is due to a traumatic birth. It may result in the infant losing large amounts of blood
intracranial haemorrhage
subarachnoid, subdural or intraventricular haemorrhages
Subarachnoid haemorrhages are common and may cause irritability and even convulsions over the first 2 days of life
Subdural can following the use of forceps.
Intraventricular haemorrhage mostly affects pre-term infants and can be diagnosed by ultrasound examinations.
Precocious puberty
- development of secondary sexual characteristics before 8 years in females and 9 years in males
- more common in females
May be classified into:
- Gonadotrophin dependent (‘central’, ‘true’)
due to premature activation of the hypothalamic-pituitary-gonadal axis
FSH & LH raised - Gonadotrophin independent (‘pseudo’, ‘false’)
due to excess sex hormones
FSH & LH low
Newborn resuscitation
Newborn resuscitation
- Dry baby and maintain temperature
- Assess tone, respiratory rate, heart rate
- If gasping or not breathing give 5 inflation breaths*
- Reassess (chest movements)
- If the heart rate is not improving and <60bpm start compressions and ventilation breaths at a rate of 3:1
Hearing screening test
Newborn - otoacoustic emission test
Newborn and infant - auditory brainstem response
6-9 months - distraction test
18 months - 2.5 years - recognition of familiar objects
>2.5 years - performance testing
>2.5 y - speech discrimination test
>3 years - Pure tine audiometry
Children and young people aged 5-16
Newly diagnosed asthma - short acting beta agonist (SABA)
- Not controlled on previous step or newly diagnosed with greater than or equal to 3 asthma episodes per week or night time symptoms
- SABA + Low dose inhaled corticosteroid (ICS)
- SABA + paediatric low dose ICS + leukotriene receptor anatgonist
- SABA + paediatric low dose ICS + long acting beta agonist
Pyloric stenosis
Pyloric stenosis typically presents in the second to fourth weeks of life with vomiting, although rarely may present later at up to four months. It is caused by hypertrophy of the circular muscles of the pylorus.
Epidemiology incidence of 4 per 1,000 live births 4 times more common in males 10-15% of infants have a positive family history first-borns are more commonly affected
Features
‘projectile’ vomiting, typically 30 minutes after a feed
constipation and dehydration may also be present
a palpable mass may be present in the upper abdomen
hypochloraemic, hypokalaemic alkalosis due to persistent vomiting
Diagnosis is most commonly made by ultrasound.
Management is with Ramstedt pyloromyotomy.
puberty - females
first sign is breast development at around 11.5 years of age (range = 9-13 years)
height spurt reaches its maximum early in puberty (at 12) , before menarche
menarche at 13 (11-15)
there is an increase of only about 4% of height following menarche
puberty - males
first sign is testicular growth at around 12 years of age (range = 10-15 years)
testicular volume > 4 ml indicates onset of puberty
maximum height spurt at 14
Normal changes in puberty
gynaecomastia may develop in boys
asymmetrical breast growth may occur in girls
diffuse enlargement of the thyroid gland may be seen
Autism spectrum disorder
Autism is a neurodevelopmental condition characterized by qualitative impairment in social interaction and communication as well as repetitive stereotyped behaviour, interests, and activities. Symptoms are usually present during early childhood, but may be manifested later. Autism spectrum disorder (ASD) may occur in association with any level of general intellectual/learning ability, and manifestations range from subtle problems of understanding and impaired social function to severe disabilities. Although there is no cure for ASD, early diagnosis and intensive educational and behavioural management may improve outcomes.
Clinical features of ASD
Children or adults with autism may exhibit a broad range of clinical manifestations. Social communication impairments and repetitive behaviours are present during early childhood (typically evident before 2–3 years of age), or maybe manifested later. The clinical features can be classified as:
Impaired social communication and interaction:
Children frequently play alone and maybe relatively uninterested in being with other children.
They may fail to regulate social interaction with nonverbal cues like eye gaze, facial expression, and gestures.
Fail to form and maintain appropriate relationships and become socially isolated.
Repetitive behaviours, interests, and activities:
Stereotyped and repetitive motor mannerisms, inflexible adherence to nonfunctional routines or rituals are often seen.
Children are noted to have particular ways of going about everyday activities.
ASD is often associated with intellectual impairment or language impairment.
Attention deficit hyperactivity disorder (35%) and epilepsy (18%) are also commonly seen in children with ASD.
ASD is also associated with a higher head circumference to the brain volume ratio.
ASD
Autism spectrum disorder (ASD) is a chronic condition that requires a comprehensive treatment approach. Although there is no cure for ASD, early diagnosis and early intensive treatment have the potential to affect outcomes. Treatment, which should be initiated early, involves educational and behavioural management, medical therapy, and family counselling.
The goal is to increase functional independence and quality of life through
Learning and development, improved social skills, and improved communication
Decreased disability and comorbidity
Aid to families
Non-Pharmacological Therapy:
Early educational and behavioural interventions:
Applied behavioural analysis (ABA).
ASD preschool program.
Treatment and Education of Autistic and Communication related handicapped CHildren (TEACCH)/Structured Teaching method.
Early Start Denver Model (ESDM).
Joint Attention Symbolic Play Engagement and Regulation (JASPER).
Pharmacologic interventions: no consistent evidence demonstrating medication-mediated improvements in social communication
SSRIs: helpful to reduce symptoms like repetitive stereotyped behaviour, anxiety, and aggression
Antipsychotic drugs: useful to reduce symptoms like aggression, self-injury.
Methylphenidate: for attention deficit hyperactivity disorder (ADHD).
Family support and counselling:
Parental education on interaction with the child and acceptance of his/her behaviour.
Acyanotic
a heart defect that affects the normal flow of blood.
Acyanotic heart disease
a heart defect that affects the normal flow of blood.
Congenital heart disease: Acyanotic - most common causes
ventricular septal defects (VSD) - most common, accounts for 30% atrial septal defect (ASD) patent ductus arteriosus (PDA) coarctation of the aorta aortic valve stenosis
Congenital heart disease: types - Cyanotic - most common causes
tetralogy of Fallot
transposition of the great arteries (TGA)
tricuspid atresia
Measles
Measles is now rarely seen in the developed world following the adoption of immunisation programmes. Outbreaks are occasionally seen, particularly when vaccinations rates drop, for example after the MMR controversy of the early 2000s.
Overview RNA paramyxovirus spread by droplets infective from prodrome until 4 days after rash starts incubation period = 10-14 days
Features
prodromal phase
irritable
conjunctivitis
fever
Koplik spots
typically develop before the rash
white spots (‘grain of salt’) on the buccal mucosa
rash
starts behind ears then to the whole body
discrete maculopapular rash becoming blotchy & confluent
desquamation that typically spares the palms and soles may occur after a week
diarrhoea occurs in around 10% of patients
Investigations
IgM antibodies can be detected within a few days of rash onset
Management
mainly supportive
admission may be considered in immunosuppressed or pregnant patients
notifiable disease → inform public health
Complications
otitis media: the most common complication
pneumonia: the most common cause of death
encephalitis: typically occurs 1-2 weeks following the onset of the illness)
subacute sclerosing panencephalitis: very rare, may present 5-10 years following the illness
febrile convulsions
keratoconjunctivitis, corneal ulceration
diarrhoea
increased incidence of appendicitis
myocarditis
Immune thrombocytopenia (ITP)
mmune (or idiopathic) thrombocytopenic purpura (ITP) is an immune-mediated reduction in the platelet count. Antibodies are directed against the glycoprotein IIb/IIIa or Ib-V-IX complex. It is an example of a type II hypersensitivity reaction.
ITP in children is typically more acute than in adults and may follow an infection or vaccination.
Features
bruising
petechial or purpuric rash
bleeding is less common and typically presents as epistaxis or gingival bleeding
Investigation
full blood count
should demonstrate an isolated thrombocytopenia
blood film
bone marrow examinations is only required if there are atypical features e.g.
lymph node enlargement/splenomegaly, high/low white cells
failure to resolve/respond to treatment
Management
usually, no treatment is required
ITP resolves in around 80% of children with 6 months, with or without treatment
advice to avoid activities that may result in trauma (e.g. team sports)
other options may be indicated if the platelet count is very low (e.g. < 10 * 109/L) or there is significant bleeding. Options include:
oral/IV corticosteroid
IV immunoglobulins
platelet transfusions can be used in an emergency (e.g. active bleeding) but are only a temporary measure as they are soon destroyed by the circulating antibodies
Acute epiglottitis
- serious infection caused by Haemophilus influenzae type B
- Prompt recognition and treatment is essential as airway obstruction may develop
Features rapid onset high temperature, generally unwell stridor drooling of saliva 'tripod' position: the patient finds it easier to breathe if they are leaning forward and extending their neck in a seated position
Diagnosis is made by direct visualisation (only by senior/airway trained staff, see below). However, x-rays may be done, particularly if there is concern about a foreign body:
a lateral view in acute epiglottis will show swelling of the epiglottis - the ‘thumb sign’
in contrast, a posterior-anterior view in croup will show subglottic narrowing, commonly called the ‘steeple sign’
Management
immediate senior involvement, including those able to provide emergency airway support (e.g. anaesthetics, ENT)
endotracheal intubation may be necessary to protect the airway
if suspected do NOT examine the throat due to the risk of acute airway obstruction
the diagnosis is made by direct visualisation but this should only be done by senior staff who are able to intubate if necessary
oxygen
intravenous antibiotics
Neonatal blood spot screening
Neonatal blood spot screening (previously called the Guthrie test or ‘heel-prick test’) is performed at 5-9 days of life
The following conditions are currently screened for:
congenital hypothyroidism
cystic fibrosis
sickle cell disease
phenylketonuria
medium chain acyl-CoA dehydrogenase deficiency (MCADD)
maple syrup urine disease (MSUD)
isovaleric acidaemia (IVA)
glutaric aciduria type 1 (GA1)
homocystinuria (pyridoxine unresponsive) (HCU)
Roseola infantum
Roseola infantum (also known as exanthem subitum, occasionally sixth disease) is a common disease of infancy caused by the human herpes virus 6 (HHV6). It has an incubation period of 5-15 days and typically affects children aged 6 months to 2 years.
Features
high fever: lasting a few days, followed later by a
maculopapular rash
Nagayama spots: papular enanthem on the uvula and soft palate
febrile convulsions occur in around 10-15%
diarrhoea and cough are also commonly seen
Other possible consequences of HHV6 infection
aseptic meningitis
hepatitis
School exclusion is not needed.
Bronchiolitis
Pathophysiology:
- acute bronchiolar inflammation
- Respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases
Epidemiology
- most common cause of a serious lower respiratory tract infection in < 1yr olds (90% are 1-9 months, with a peak incidence of 3-6 months).
- Maternal IgG provides protection to newborns against RSV
higher incidence in winter
Basics
respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases
other causes: mycoplasma, adenoviruses
may be secondary bacterial infection
more serious if bronchopulmonary dysplasia (e.g. Premature), congenital heart disease or cystic fibrosis
Features
coryzal symptoms (including mild fever) precede:
dry cough
increasing breathlessness
wheezing, fine inspiratory crackles (not always present)
feeding difficulties associated with increasing dyspnoea are often the reason for hospital admission
NICE recommend immediate referral (usually by 999 ambulance) if they have any of the following:
apnoea (observed or reported)
child looks seriously unwell to a healthcare professional
severe respiratory distress, for example grunting, marked chest recession, or a respiratory rate of over 70 breaths/minute
central cyanosis
persistent oxygen saturation of less than 92% when breathing air.
NICE recommend that clinicians ‘consider’ referring to hospital if any of the following apply:
a respiratory rate of over 60 breaths/minute
difficulty with breastfeeding or inadequate oral fluid intake (50-75% of usual volume ‘taking account of risk factors and using clinical judgement’) clinical dehydration.
Investigation
immunofluorescence of nasopharyngeal secretions may show RSV
Management is largely supportive
humidified oxygen is given via a head box and is typically recommended if the oxygen saturations are persistently < 92%
nasogastric feeding may be needed if children cannot take enough fluid/feed by mouth
suction is sometimes used for excessive upper airway secretions
ICE guidelines if any of the following are observed after any degree of meconium, then baby must be assessed by the neonatal team
respiratory rate above 60 per minute
the presence of grunting
heart rate below 100 or above 160 beats/minute
capillary refill time above 3 seconds
temperature of 38°C or above, or 37.5°C on 2 occasions 30 minutes apart
oxygen saturation below 95%
presence of central cyanosis
Constipation in children
The frequency at which children open their bowels varies widely but generally decreases with age from a mean of 3 times per day for infants under 6 months old to once a day after 3 years of age.
NICE produced guidelines in 2010 on the diagnosis and management of constipation in children.
A diagnosis of constipation is suggested by 2 or more of the following:
Constipation in children under 1
Stool pattern: Fewer than 3 complete stools per week (type 3 or 4 on Bristol Stool Form Scale) (this does not apply to exclusively breastfed babies after 6 weeks of age), Hard large stool, ‘Rabbit droppings’ (type 1)
Symptoms associated with defecation: Distress on passing stool
Bleeding associated with hard stool, Straining
History: Previous episode(s) of constipation, Previous or current anal fissure
NICE produced guidelines in 2010 on the diagnosis and management of constipation in children.
A diagnosis of constipation is suggested by 2 or more of the following:
Constipation in children love 1
Stool pattern: Fewer than 3 complete stools per week (type 3 or 4) Overflow soiling (commonly very loose, very smelly, stool passed without sensation), 'Rabbit droppings' (type 1), Large, infrequent stools that can block the toilet
Symptoms associated with defecation
Poor appetite that improves with passage of large stool
Waxing and waning of abdominal pain with passage of stool
Evidence of retentive posturing: typical straight-legged, tiptoed, back arching
posture
Straining
Anal pain
history
Previous episode(s) of constipation
Previous or current anal fissure
Painful bowel movements and bleeding associated with hard stools
Pyloric stenosis leads to
hypochloremic, hypokalaemic alkalosis
Measles
Fever
Maculopapular rash
Koplik spot (white papules on the buccal mucosa that often present before the rash)
Whooping cough (pertussis)
Whooping cough (pertussis) is an infectious disease caused by the Gram-negative bacterium Bordetella pertussis. It typically presents in children. There are around 1,000 cases are reported each year in the UK.
Immunisation
infants are routinely immunised at 2, 3, 4 months and 3-5 years. Newborn infants are particularly vulnerable, which is why the vaccination campaign for pregnant women was introduced
neither infection nor immunisation results in lifelong protection - hence adolescents and adults may develop whooping cough despite having had their routine immunisations
Whooping cough (pertussis)
Features, 2-3 days of coryza precede onset of:
coughing bouts: usually worse at night and after feeding, may be ended by vomiting & associated central cyanosis
inspiratory whoop: not always present (caused by forced inspiration against a closed glottis)
infants may have spells of apnoea
persistent coughing may cause subconjunctival haemorrhages or even anoxia leading to syncope & seizures
symptoms may last 10-14 weeks* and tend to be more severe in infants
marked lymphocytosis
Diagnostic criteria
Whooping cough should be suspected if a person has an acute cough that has lasted for 14 days or more without another apparent cause, and has one or more of the following features:
Paroxysmal cough.
Inspiratory whoop.
Post-tussive vomiting.
Undiagnosed apnoeic attacks in young infants.
Whooping cough management
Management
infants under 6 months with suspect pertussis should be admitted
in the UK pertussis is a notifiable disease
an oral macrolide (e.g. clarithromycin, azithromycin or erythromycin) is indicated if the onset of the cough is within the previous 21 days to eradicate the organism and reduce the spread
household contacts should be offered antibiotic prophylaxis
antibiotic therapy has not been shown to alter the course of the illness
school exclusion: 48 hours after commencing antibiotics (or 21 days from onset of symptoms if no antibiotics )
Complications subconjunctival haemorrhage pneumonia bronchiectasis seizures
Hirschprungs disease
- caused by an aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses
- although rare (occurring in 1 in 5,000 births) it is an important differential diagnosis in childhood constipation
Pathophysiology
parasympathetic neuroblasts fail to migrate from the neural crest to the distal colon → developmental failure of the parasympathetic Auerbach and Meissner plexuses → uncoordinated peristalsis → functional obstruction
Associations
3 times more common in males
Down’s syndrome
Possible presentations
neonatal period e.g. failure or delay to pass meconium
older children: constipation, abdominal distension
Investigations
abdominal x-ray
rectal biopsy: gold standard for diagnosis
Management
initially: rectal washouts/bowel irrigation
definitive management: surgery to affected segment of the colon
Gastro-oesophageal reflux in children
Gastro-oesophageal reflux is the commonest cause of vomiting in infancy. Around 40% of infants regurgitate their feeds to a certain extent so there is a degree of overlap with normal physiological processes.
Risk factors
- preterm delivery
- neurological disorders
Features
- typically develops before 8 weeks
- vomiting/regurgitation following feeds
Diagnosis is usually made clinically
Management (partly based on the 2015 NICE guidelines)
advise regarding position during feeds - 30 degree head-up
infants should sleep on their backs as per standard guidance to reduce the risk of cot death
ensure infant is not being overfed (as per their weight) and consider a trial of smaller and more frequent feeds
a trial of thickened formula (for example, containing rice starch, cornstarch, locust bean gum or carob bean gum)
a trial of alginate therapy e.g. Gaviscon. Alginates should not be used at the same time as thickening agents
NICE do not recommend a proton pump inhibitor (PPI) to treat overt regurgitation in infants and children occurring as an isolated symptom. A trial of one of these agents should be considered if 1 or more of the following apply:
unexplained feeding difficulties (for example, refusing feeds, gagging or choking)
distressed behaviour
faltering growth
ranitidine was previously used as an alternative to a PPI but was withdrawn from the market in 2020 as small amounts of the carcinogen N-nitrosodimethylamine (NDMA) were discovered in products from a number of manufacturers.
prokinetic agents e.g. metoclopramide should only be used with specialist advice
Complications distress failure to thrive aspiration frequent otitis media in older children dental erosion may occur
If there are severe complications (e.g. failure to thrive) and medical treatment is ineffective then fundoplication may be considered
Cow’s milk protein intolerance/allergy
Cow’s milk protein intolerance/allergy (CMPI/CMPA) occurs in around 3-6% of all children and typically presents in the first 3 months of life in formula-fed infants, although rarely it is seen in exclusively breastfed infants.
Both immediate (IgE mediated) and delayed (non-IgE mediated) reactions are seen. The term CMPA is usually used for immediate reactions and CMPI for mild-moderate delayed reactions.
Features regurgitation and vomiting diarrhoea urticaria, atopic eczema 'colic' symptoms: irritability, crying wheeze, chronic cough rarely angioedema and anaphylaxis may occur
Diagnosis is often clinical (e.g. improvement with cow’s milk protein elimination). Investigations include:
skin prick/patch testing
total IgE and specific IgE (RAST) for cow’s milk protein
Management of Cow’s milk protein intolerance/allergy
If the symptoms are severe (e.g. failure to thrive) refer to a paediatrician.
Management if formula-fed
extensive hydrolysed formula (eHF) milk is the first-line replacement formula for infants with mild-moderate symptoms
amino acid-based formula (AAF) in infants with severe CMPA or if no response to eHF
around 10% of infants are also intolerant to soya milk
Management if breastfed
continue breastfeeding
eliminate cow’s milk protein from maternal diet. Consider prescribing calcium supplements for breastfeeding mothers whose babies have, or are suspected to have, CMPI, to prevent deficiency whilst they exclude dairy from their diet
use eHF milk when breastfeeding stops, until 12 months of age and at least for 6 months
Prognosis
CMPI usually resolves in most children
in children with IgE mediated intolerance around 55% will be milk tolerant by the age of 5 years
in children with non-IgE mediated intolerance most children will be milk tolerant by the age of 3 years
a challenge is often performed in the hospital setting as anaphylaxis can occur.
The combination of a distended abdomen and bilious vomiting is highly suggestive of
…intestinal malrotation and volvulus.
An urgent upper GI contrast study and ultrasound is required.
Roseola infantum
Roseola infantum (also known as exanthem subitum, occasionally sixth disease) is a common disease of infancy caused by the human herpes virus 6 (HHV6). It has an incubation period of 5-15 days and typically affects children aged 6 months to 2 years.
Features
high fever: lasting a few days, followed later by a
maculopapular rash
Nagayama spots: papular enanthem on the uvula and soft palate
febrile convulsions occur in around 10-15%
diarrhoea and cough are also commonly seen
Other possible consequences of HHV6 infection
aseptic meningitis
hepatitis
School exclusion is not needed.
William’s syndrome
This is a genetic condition caused by a deletion on chromosome seven. It is associated with aortic stenosis, but patients typically present with intellectual disability, underdeveloped cheeks, short noses, broad foreheads, and a happy affect. While this patient’s presentation hints at a genetic condition, it points towards Turner’s syndrome rather than William’s syndrome.
Meckel’s diverticulum
- failure of the vitelline duct to obliterate during the fifth week of fetal development
- typically occurs just two feet proximal to the ileocaecal valve, so the pain can mimic classic appendicitis pain.
- The patient is hemodynamically unstable, indicating that he is suffering from a substantial haemorrhage, confirmed by rectal bleeding.
- Despite being the most common cause of transfusion for children between 1 and 2 years old, many patients are often asymptomatic
Turner’s syndrome
Ejection systolic murmurs can be due to bicuspid aortic valves
Consider referring children with bronchiolitis to hospital if they have any of the following:
a respiratory rate of over 60 breaths/minute
difficulty with breastfeeding or inadequate oral fluid intake (50–75% of usual volume, taking account of risk factors [see recommendation 1.3.3] and using clinical judgement)
clinical dehydration
Chignon’s
birth traumas that occur after use of a ventouse device during delivery
cranial abrasion
caesarean section or instrumental delivery
Kochers criteria to assess chance of develping septic arthritis
Non-weight bearing - 1 point
Fever >38.5ºC - 1 point
WCC >12 * 109/L - 1 point
ESR >40mm/hr
The probabilities are calculated thus:
0 points = very low risk
1 point = 3% probability of septic arthritis
2 points = 40% probability of septic arthritis
3 points = 93% probability of septic arthritis
4 points = 99% probability of septic arthritis
Infantile colic
Infantile colic describes a relatively common and benign set of symptoms seen in young infants. It typically occurs in infants less than 3 months old and is characterised by bouts of excessive crying and pulling-up of the legs, often worse in the evening.
Infantile colic occurs in up to 20% of infants. The cause of infantile colic is unknown.
NICE Clinical Knowledge Summaries do not recommend the use of simeticone (such as Infacol®) or lactase (such as Colief®) drops.
The major risk factors for SIDS are:
prone sleeping parental smoking bed sharing hyperthermia and head covering prematurity
Phimosis
The British Association of Paediatric Urologists states that if the issue is a non-retractile foreskin and/or ballooning during micturition in a child under two, an expectant approach should be taken in case this is physiological phimosis which will resolve in time. Forcible retraction can result in scar formation so should be avoided. Personal hygiene is important. If the child is over 2 years of age and has recurrent balanoposthitis or urinary tract infection then treatment can be considered.
Perthes’ disease
Perthes’ disease is a degenerative condition affecting the hip joints of children, typically between the ages of 4-8 years. It is due to avascular necrosis of the femoral head, specifically the femoral epiphysis. Impaired blood supply to the femoral head causes bone infarction.
Perthes’ disease is 5 times more common in boys. Around 10% of cases are bilateral
Features
hip pain: develops progressively over a few weeks
limp
stiffness and reduced range of hip movement
x-ray: early changes include widening of joint space, later changes include decreased femoral head size/flattening
Diagnosis
plain x-ray
technetium bone scan or magnetic resonance imaging if normal x-ray and symptoms persist
Complications
osteoarthritis
premature fusion of the growth plates
congenital hip dysplasia.
Pavlik harness
muscle spasticity
Serial casting
arthritis
Steroid injection
Shaken baby syndrome
This syndrome encompasses the triad of retinal haemorrhages, subdural haematoma, and encephalopathy. This is caused by the intentional shaking of a child (0-5 years old). The diagnosis of shaken baby syndrome has often made the headlines due to the controversy amongst physicians as to whether the mechanism of injury is definitely an intentional shaking of a child. This has often resulted in difficulty for the courts to convict suspects of causing shaken baby syndrome to a child.
Patent ductus arteriosus
Overview
a form of congenital heart defect
generally classed as ‘acyanotic’. However, uncorrected can eventually result in late cyanosis in the lower extremities, termed differential cyanosis
connection between the pulmonary trunk and descending aorta
usually, the ductus arteriosus closes with the first breaths due to increased pulmonary flow which enhances prostaglandins clearance
more common in premature babies, born at high altitude or maternal rubella infection in the first trimester
Patent ductus arteriosus
indomethacin is given to the neonate in the postnatal period, not to the mother in the antenatal period
Osgood-Schlatter disease
Osgood-Schlatter disease (tibial apophysitis) is a type of osteochondrosis characterised by inflammation at the tibial tuberosity. It is a traction apophysitis thought to be caused by repeated avulsion of the apophysis into which the patellar tendon is inserted
Management is supportive
congenital visceral malformations
Gastroschisis and exomphalos
Gastroschisis
Gastroschisis describes a congenital defect in the anterior abdominal wall just lateral to the umbilical cord.
Management
vaginal delivery may be attempted
newborns should go to theatre as soon as possible after delivery, e.g. within 4 hours
Exomphalos (omphalocoele)
In exomphalos (also known as an omphalocoele) the abdominal contents protrude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum.
Associations
Beckwith-Wiedemann syndrome
Down’s syndrome
cardiac and kidney malformations
Management
caesarean section is indicated to reduce the risk of sac rupture
a staged repair may be undertaken as primary closure may be difficult due to lack of space/high intra-abdominal pressure
if this occurs the sacs is allowed to granulate and epithelialise over the coming weeks/months
this forms a ‘shell’
as the infant grows a point will be reached when the sac contents can fit within the abdominal cavity. At this point the shell will be removed and the abdomen closed
Seborrhoeic dermatitis in children
Seborrhoeic dermatitis is a relatively common skin disorder seen in children. It typically affects the scalp (‘Cradle cap’), nappy area, face and limb flexures.
Cradle cap is an early sign which may develop in the first few weeks of life. It is characterised by an erythematous rash with coarse yellow scales.
Management depends on severity
mild-moderate: baby shampoo and baby oils
severe: mild topical steroids e.g. 1% hydrocortisone
Seborrhoeic dermatitis in children tends to resolve spontaneously by around 8 months of age
Mesenteric adenitis
Mesenteric adenitis is inflamed lymph nodes within the mesentery. It can cause similar symptoms to appendicitis and can be difficult to distinguish between the two. It often follows a recent viral infection and needs no treatment
Paediatric basic life support
The 2015 Resuscitation Council guidelines made the following changes to paediatric basic life support
compression:ventilation ratio: lay rescuers should use a ratio of 30:2. If there are two or more rescuers with a duty to respond then a ratio of 15:2 should be used
age definitions: an infant is a child under 1 year, a child is between 1 year and puberty
Key points of algorithm (please see link attached for more details)
unresponsive?
shout for help
open airway
look, listen, feel for breathing
give 5 rescue breaths
check for signs of circulation
infants use brachial or femoral pulse, children use femoral pulse
15 chest compressions:2 rescue breaths (see above)
chest compressions should be 100-120/min for both infants and children
depth: depress the lower half of the sternum by at least one-third of the anterior–posterior dimension of the chest (which is approximately 4 cm for an infant and 5 cm for a child)
in children: compress the lower half of the sternum
in infants: use a two-thumb encircling technique for chest compression
Perthes’ disease
Perthes’ disease is a degenerative condition affecting the hip joints of children, typically between the ages of 4-8 years. It is due to avascular necrosis of the femoral head, specifically the femoral epiphysis. Impaired blood supply to the femoral head causes bone infarction.
Perthes’ disease is 5 times more common in boys. Around 10% of cases are bilateral
Features
hip pain: develops progressively over a few weeks
limp
stiffness and reduced range of hip movement
x-ray: early changes include widening of joint space, later changes include decreased femoral head size/flattening
Diagnosis
plain x-ray
technetium bone scan or magnetic resonance imaging if normal x-ray and symptoms persist
Complications
osteoarthritis
premature fusion of the growth plates
Whooping cough
Gram-negative bacterium Bordetella pertussis
Immunisation
infants are routinely immunised at 2, 3, 4 months and 3-5 years. Newborn infants are particularly vulnerable, which is why the vaccination campaign for pregnant women was introduced
neither infection nor immunisation results in lifelong protection - hence adolescents and adults may develop whooping cough despite having had their routine immunisations
Features, 2-3 days of coryza precede onset of:
coughing bouts: usually worse at night and after feeding, may be ended by vomiting & associated central cyanosis
inspiratory whoop: not always present (caused by forced inspiration against a closed glottis)
infants may have spells of apnoea
persistent coughing may cause subconjunctival haemorrhages or even anoxia leading to syncope & seizures
symptoms may last 10-14 weeks* and tend to be more severe in infants marked lymphocytosis
Diagnostic criteria
Whooping cough should be suspected if a person has an acute cough that has lasted for 14 days or more without another apparent cause, and has one or more of the following features:
Paroxysmal cough.
Inspiratory whoop.
Post-tussive vomiting.
Undiagnosed apnoeic attacks in young infants.
Whooping cough
Gram-negative bacterium Bordetella pertussis
Immunisation
infants are routinely immunised at 2, 3, 4 months and 3-5 years. Newborn infants are particularly vulnerable, which is why the vaccination campaign for pregnant women was introduced
neither infection nor immunisation results in lifelong protection - hence adolescents and adults may develop whooping cough despite having had their routine immunisations
Features, 2-3 days of coryza precede onset of:
coughing bouts: usually worse at night and after feeding, may be ended by vomiting & associated central cyanosis
inspiratory whoop: not always present (caused by forced inspiration against a closed glottis)
infants may have spells of apnoea
persistent coughing may cause subconjunctival haemorrhages or even anoxia leading to syncope & seizures
symptoms may last 10-14 weeks* and tend to be more severe in infants marked lymphocytosis
Diagnostic criteria
Whooping cough should be suspected if a person has an acute cough that has lasted for 14 days or more without another apparent cause, and has one or more of the following features:
Paroxysmal cough.
Inspiratory whoop.
Post-tussive vomiting.
Undiagnosed apnoeic attacks in young infants.
Meconium aspiration syndrome
Meconium aspiration syndrome refers to respiratory distress in the newborn as a result of meconium in the trachea. It occurs in the immediate neonatal period. It is more common in post-term deliveries, with rates of up to 44% reported in babies born after 42 weeks. It causes respiratory distress, which can be severe. Higher rates occur where there is a history of maternal hypertension, pre-eclampsia, chorioamnionitis, smoking or substance abuse.
The family law reform act of 1969 states that ‘those over 16 can consent to treatment, but cannot refuse treatment under 18 unless there is one consenting parent, even if the other disagrees’.
Trinucleotide repeat disorders
Trinucleotide repeat disorders are genetic conditions caused by an abnormal number of repeats (expansions) of a repetitive sequence of three nucleotides. These expansions are unstable and may enlarge which may lead to an earlier age of onset in successive generations - a phenomenon known as anticipation*. In most cases, an increase in the severity of symptoms is also noted
Examples - note dominance of neurological disorders Fragile X (CGG) Huntington's (CAG) myotonic dystrophy (CTG) Friedreich's ataxia* (GAA) spinocerebellar ataxia spinobulbar muscular atrophy dentatorubral pallidoluysian atrophy
*Friedreich’s ataxia is unusual in not demonstrating anticipation
Haemorrhagic disease of the newborn
Newborn babies are relatively deficient in vitamin K. This may result in impaired production of clotting factors which in turn can lead to haemorrhagic disease of the newborn (HDN). Bleeding may range from minor brushing to intracranial haemorrhages
Breast-fed babies are particularly at risk as breast milk is a poor source of vitamin K. Maternal use of antiepileptics also increases the risk
Because of this all newborns in the UK are offered vitamin K, either intramuscularly or orally
A mother brings her child as she is concerned he is clumsy compared to other similar aged children. At what age would the average child acquire a good pincer grip?
Thyroglossal cyst
Located in the anterior triangle, usually in the midline and below the hyoid (65% cases)
Derived from remnants of the thyroglossal duct
Thin walled and anechoic on USS (echogenicity suggests infection of cyst
Branchial cyst
Six branchial arches separated by branchial clefts
Incomplete obliteration of the branchial apparatus may result in cysts, sinuses or fistulae
75% of branchial cysts originate from the second branchial cleft
Usually located anterior to the sternocleidomastoid near the angle of the mandible
Unless infected the fluid of the cyst has a similar consistency to water and is anechoic on USS
Dermoids
Derived from pleuripotent stem cells and are located in the midline
Most commonly in a suprahyoid location
They have heterogeneous appearances on imaging and contain variable amounts of calcium and fat
Thyroid gland
true thyroid lesions are rare in children and usually represent thyroglossal cysts or tumours like lymphoma
Lymphatic malformations
Usually located posterior to the sternocleidomastoid
Cystic hygroma result from occlusion of lymphatic channels
The painless, fluid filled, lesions usually present prior to the age of 2
They are often closely linked to surrounding structures and surgical removal is difficult
They are typically hypoechoic on USS
Infantile haemangioma
May present in either triangle of the neck
Grow rapidly initially and then will often spontaneously regress
Plain x-rays will show a mass lesion, usually containing calcified phleboliths
As involution occurs the fat content of the lesions increases
Lymphadenopathy
Located in either triangle of the neck
May be reactive or neoplastic
Generalised lymphadenopathy usually secondary to infection in children (very common)
Umbilical hernia in children
Umbilical hernia are relatively common in children and may be found during the newborn exam. Usually no treatment is required as they typically resolve by 3 years of age
Associations
Afro-Caribbean infants
Down’s syndrome
mucopolysaccharide storage diseases
Umbilical hernia
Up to 20% of neonates may have an umbilical hernia, it is more common in premature infants. The majority of these hernias will close spontaneously (may take between 12 months and three years). Strangulation is rare.
Paraumbilical hernia
These are due to defects in the linea alba that are in close proximity to the umbilicus. The edges of a paraumbilical hernia are more clearly defined than those of an umbilical hernia. They are less likely to resolve spontaneously than an umbilical hernia.
Omphalitis
This condition consists of an infection of the umbilicus. Infection with Staphylococcus aureus is the commonest cause. The condition is potentially serious as infection may spread rapidly through the umbilical vessels in neonates with a risk of portal pyaemia, and portal vein thrombosis. Treatment is usually with a combination of topical and systemic antibiotics.
Umbilical granuloma
These consist of cherry red lesions surrounding the umbilicus, they may bleed on contact and be a site of seropurulent discharge. Infection is unusual and they will often respond favourably to chemical cautery with topically applied silver nitrate.
Persistent urachus
This is characterised by urinary discharge from the umbilicus. It is caused by persistence of the urachus which attaches to the bladder. They are associated with other urogenital abnormalities.
Persistent vitello-intestinal duct
This will typically present as an umbilical discharge that discharges small bowel content. Complete persistence of the duct is a rare condition. Much more common is the persistence of part of the duct (Meckel’s diverticulum). Persistent vitello-intestinal ducts are best imaged using a contrast study to delineate the anatomy and are managed by laparotomy and surgical closure.
Threadworms
Management
CKS recommend a combination of anthelmintic with hygiene measures for all members of the household
mebendazole is used first-line for children > 6 months old. A single dose is given unless infestation persists
Hand, foot and mouth disease
Hand, foot and mouth disease is a self-limiting condition affecting children. It is caused by the intestinal viruses of the Picornaviridae family (most commonly coxsackie A16 and enterovirus 71). It is very contagious and typically occurs in outbreaks at nursery
Clinical features
mild systemic upset: sore throat, fever
oral ulcers
followed later by vesicles on the palms and soles of the feet
Management
symptomatic treatment only: general advice about hydration and analgesia
reassurance no link to disease in cattle
children do not need to be excluded from school
the HPA recommends that children who are unwell should be kept off school until they feel better
they also advise that you contact them if you suspect that there may be a large outbreak.
Chickenpox management
Management is supportive
keep cool, trim nails
calamine lotion
school exclusion: NICE Clinical Knowledge Summaries state the following: Advise that the most infectious period is 1–2 days before the rash appears, but infectivity continues until all the lesions are dry and have crusted over (usually about 5 days after the onset of the rash).
immunocompromised patients and newborns with peripartum exposure should receive varicella zoster immunoglobulin (VZIG). If chickenpox develops then IV aciclovir should be considered
Hypospadias
Hypospadias is a congenital abnormality of the penis which occurs in approximately 3/1,000 male infants. There appears to be a significant genetic element, with further male children having a risk of around 5-15%.
It is usually identified on the newborn baby check. If missed, parents may notice an abnormal urine stream.
Hypospadias is characterised by
a ventral urethral meatus
a hooded prepuce
chordee (ventral curvature of the penis) in more severe forms
the urethral meatus may open more proximally in the more severe variants. However, 75% of the openings are distally located.
Hypospadias most commonly occurs as an isolated disorder. However, associated conditions include cryptorchidism (present in 10%) and inguinal hernia.
Management
once hypospadias has been identified, infants should be referred to specialist services
corrective surgery is typically performed when the child is around 12 months of age
it is essential that the child is not circumcised prior to the surgery as the foreskin may be used in the corrective procedure
in boys with very distal disease, no treatment may be needed
Surfactant deficient lung disease
Surfactant deficient lung disease (SDLD, also known as respiratory distress syndrome and previously as hyaline membrane disease) is a condition seen in premature infants. It is caused by insufficient surfactant production and structural immaturity of the lungs
The risk of SDLD decreases with gestation
50% of infants born at 26-28 weeks
25% of infants born at 30-31 weeks
Other risk factors for SDLD include male sex diabetic mothers Caesarean section second born of premature twins
Clinical features are those common to respiratory distress in the newborn, i.e. tachypnoea, intercostal recession, expiratory grunting and cyanosis
Chest x-ray characteristically shows ‘ground-glass’ appearance with an indistinct heart border
Management
prevention during pregnancy: maternal corticosteroids to induce fetal lung maturation
oxygen
assisted ventilation
exogenous surfactant given via endotracheal tube
Eczema in children
Eczema occurs in around 15-20% of children and is becoming more common. It typically presents before 2 years but clears in around 50% of children by 5 years of age and in 75% of children by 10 years of age
Features
itchy, erythematous rash
repeated scratching may exacerbate affected areas
in infants the face and trunk are often affected
in younger children, eczema often occurs on the extensor surfaces
in older children, a more typical distribution is seen, with flexor surfaces affected and the creases of the face and neck
Management
avoid irritants
simple emollients
large quantities should be prescribed (e.g. 250g / week), roughly in a ratio of with topical steroids of 10:1
if a topical steroid is also being used the emollient should be applied first followed by waiting at least 30 minutes before applying the topical steroid
creams soak into the skin faster than ointments
emollients can become contaminated with bacteria - fingers should not be inserted into pots (many brands have pump dispensers)
topical steroids
wet wrapping
large amounts of emollient (and sometimes topical steroids) applied under wet bandages
in severe cases, oral ciclosporin may be used
Undescended testis
Undescended testis occurs in around 2-3% of term male infants, but is much more common if the baby is preterm. Around 25% of cases are bilateral.
Complications of undescended testis infertility torsion testicular cancer psychological
Management
Unilateral undescended testis
NICE CKS now recommend referral should be considered from around 3 months of age, with the baby ideally seeing a urological surgeon before 6 months of age
Orchidopexy: Surgical practices vary although the majority of procedures are performed at around 1 year of age
Bilateral undescended testes
Should be reviewed by a senior paediatrician within 24hours as the child may need urgent endocrine or genetic investigation
Attention Deficit Hyperactivity Disorder
March 2018 saw NICE issue new guidance around recognising and managing attention deficit hyperactivity disorder (ADHD). This condition can inflict significant morbidity on a child’s life and thus has consequences into adulthood, making good diagnosis and treatment vital.
DSM-V defines ADHD as a condition incorporating features relating to inattention and/or hyperactivity/impulsivity that are persistent. Like many paediatric conditions, there has to be an element of developmental delay. For children up to the age of 16 years, six of these features have to be present; in those aged 17 or over, the threshold is five features (Table below).
Epidemiology
ADHD has a UK prevalence of 2.4%, about twice that of autism, and is more common in boys than in girls (M:F 4:1);
Most children are diagnosed between the ages of 3 and 7;
There is a possible genetic component.
Ambiguous genitalia
Basic physiology
initially gonads in fetus are undifferentiated
on the Y chromosome there is a sex-determining gene (SRY gene) which causes differentiation of the gonad into a testis
if absent (i.e. in a female) then the gonads differentiate to become ovaries
Most common cause in newborns is congenital adrenal hyperplasia. Other causes include:
true hermaphroditism
maternal ingestion of androgens
Neonatal hypoglycaemia
Normal term babies often have hypoglycaemia especially in the first 24 hrs of life but without any sequelae, as they can utilise alternate fuels like ketones and lactate. There is no agreed definition of neonatal hypoglycaemia but a figure of < 2.6 mmol/L is used in many guidelines.
Transient hypoglycaemia in the first hours after birth is common.
Persistent/severe hypoglycaemia may be caused by: preterm birth (< 37 weeks) maternal diabetes mellitus IUGR hypothermia neonatal sepsis inborn errors of metabolism nesidioblastosis Beckwith-Wiedemann syndrome
Features may be asymptomatic autonomic (hypoglycaemia → changes in neural sympathetic discharge) 'jitteriness' irritable tachypnoea pallor neuroglycopenic poor feeding/sucking weak cry drowsy hypotonia seizures other features may include apnoea hypothermia
Management depends on the severity of the hypoglycaemia and if the newborn is symptomatic
asymptomatic
encourage normal feeding (breast or bottle)
monitor blood glucose
symptomatic or very low blood glucose
admit to the neonatal unit
intravenous infusion of 10% dextrose
Ebstein’s anomaly
Ebstein’s anomaly is a congenital heart defect characterised by low insertion of the tricuspid valve resulting in a large atrium and small ventricle. It is sometimes referred to as ‘atrialisation’ of the right ventricle.
Ebstein’s anomaly may be caused by exposure to lithium in-utero.
Associations
patent foramen ovale (PFO) or atrial septal defect (ASD) is seen in at least 80% of patients, resulting in a shunt between the right and left atria
Wolff-Parkinson White syndrome
Clinical features
cyanosis
prominent ‘a’ wave in the distended jugular venous pulse,
hepatomegaly
tricuspid regurgitation
pansystolic murmur, worse on inspiration
right bundle branch block → widely split S1 and S2
Chondromalacia patellae
Softening of the cartilage of the patella
Common in teenage girls
Characteristically anterior knee pain on walking up and down stairs and rising from prolonged sitting
Usually responds to physiotherapy
Osgood-Schlatter disease
tibial apophysitis
Seen in sporty teenagers
Pain, tenderness and swelling over the tibial tubercle
Osteochondritis dissecans
Pain after exercise
Intermittent swelling and locking
Patellar subluxation
Medial knee pain due to lateral subluxation of the patella
Knee may give way
Patellar tendonitis
More common in athletic teenage boys
Chronic anterior knee pain that worsens after running
Tender below the patella on examination
Congenital infections
TORCH
Toxoplasmosis
Rubella
Cytomegalovirus
HIV, Hep B
Syphilis, Varicella. Zika
Rubella
Sensorineural deafness
Congenital cataracts
Congenital heart disease (e.g. patent ductus arteriosus)
Glaucoma
Growth retardation Hepatosplenomegaly Purpuric skin lesions 'Salt and pepper' chorioretinitis Microphthalmia Cerebral palsy
Toxoplasmosis
Cerebral calcification
Chorioretinitis
Hydrocephalus
Anaemia
Hepatosplenomegaly
Cerebral palsy
Cytomegalovirus
Low birth weight
Purpuric skin lesions
Sensorineural deafness
Microcephaly
Visual impairment Learning disability Encephalitis/seizures Pneumonitis Hepatosplenomegaly Anaemia Jaundice Cerebral palsy
Down’s syndrome associations
Hypothyroidism
