Paediatrics Flashcards
What is the purpose of the newborn examination? When is it carried out?
Must be performed within first 72 hours after birth
Purpose:
Screen for congenital abnormalities that will benefit from early intervention
Make referrals for further tests or treatment as appropriate
Provide reassurance to parents
List the components of the newborn examination
- Undress to nappy
- History from parents - pregnancy, delivery, risk factors, scans, family history, newborn feeding, urination, passing meconium
- Weight - plot on weight chart
- General inspection -
Colour - pallor, cyanosis, jaundice
Posture - hemiparesis, Erb’s palsy
Tone - hypotonic (Down’s, neuromuscular disorder etc.) - Head
Circumference - plot on chart
Shape - moulding, caput succedaneum, cephalhaematoma, subgaleal haemorrhages, craniosynostosis
Fontanelles - anterior - Skin
Birthmarks, bruising/lacerations from birth trauma - important to document in case of child protection concerns in the future
Birthmarks e.g. salmon patch, haemangiomas, port-wine stain
Vernix
Other skin findings - slate-grey navus, milia, erythema toxicum, neonatal jaundice - Face
Appearance - dysmorphic features
Asymmetry e.g. facial nerve palsy from delivery
Trauma
Nose - will cause respiratory distress if nasal passages not patent
Eyes - erythema, discharge, discolouration of sclera, position and shape of eyes
Fundal reflex
Ears - pinna, hearing screening test
Mouth and palate - clefts, tongue-tie - Neck and clavicles
Length, webbing
Lumps
Clavicular fracture - Upper limbs
Symmetry
Fingers
Palms - should have two palmar creases
Brachial pulse - abnormality of aorta - Chest
Respiratory rate
Work of breathing
Chest wall abnormalities
Auscultate lungs and heart
Pulse oximetry - preductal and postductal saturations - Abdomen
Distension
Umbilicus
Inguinal hernia
Palpate - liver, spleen, kidneys, bladder - Genitalia
Male - urethral meatus position, size of penis, testicular swelling, palpate scrotum for testes
Females - labia, clitoris, vaginal discharge - Lower limbs
Asymmetry
Oedema
Ankle deformities - talipes (club foot)
Missing digits
Tone
Range of knee joint movement
Femoral pulses
Hips - Barlow’s and Ortolani’s tests - Back and spine
Scoliosis
Hair tufts
Naevi
Sacral pits - Anus
Patency
Meconium - should be passed within 24 hours - Reflexes
Palmar grasp reflex
Sucking reflex
Rooting reflex - turn head towards stroking cheek/mouth
Stepping reflex - when feet touch flat surface will appear to walk
Moro - hold up then drop back, causes extension of arms and legs then flexion, cries
What is hypoxic ischaemic encephalopathy? What causes it?
Condition which occurs in neonates due to hypoxia during birth, resulting in ischaemic brain injury
Causes e.g.
Maternal shock
Intrapartum haemorrhage
Prolapsed cord
Nuchal cord
How does hypoxic ischaemic encephalopathy present/when should it be suspected? Describe the grading and prognosis for each grade.
Suspect in neonates when there has been events which could lead to hypoxia during perinatal/intrapartum period, acidosis on umbilical artery blood gas, poor Apgar scores
Features - Sarnat Staging
Mild - poor feeding, irritable, hyper-alert, resolves within 24 hours, normal prognosis
Moderate - poor feeding, lethargic, hypotonic, seizures, can take weeks to resolve, 40% develop cerebral palsy
Severe - reduced consciousness, apnoeas, flaccid and reduced or absent reflexes, up to 50% mortality, up to 90% develop cerebral palsy
How is hypoxic ischaemic encephalopathy managed?
Supportive care, neonatal resuscitation
Management of complications e.g. ventilatory support, seizures
Therapeutic hypothermia - cooling in neonatal ICU for 72 hours, reduce inflammation and neurone loss
Follow-up by paediatrician and MDT
Define caput succedaneum.
What causes it/what are risk factors for it?
How does it present?
How is it managed?
Oedema of scalp, outside the periosteum
Crosses sutures
Mild or no discolouration of skin
Causes by pressure to scalp during prolonged, traumatic or instrumental delivery
Usually resolves within a few days, no treatment required
Define cephalohaematoma
What causes it/risk factors for it?
How does it present?
How is it managed?
What are the potential complications?
Collection of blood between skull and periosteum
Does not cross suture lines
Causes discolouration of skin
Caused by damage to blood vessels during traumatic, prolonged or instrumental delivery
Usually resolves without treatment within a few months
Risk of anaemia and jaundice due to blood breakdown - monitor for these complications and for resolution
How can caput succedaneum and cephalohaematoma in a neonate be distinguished?
Caput - crosses suture lines, no skin discolouration
Cephalohaematoma - doesn’t cross suture lines, skin discoloured
How is facial palsy in a neonate managed?
Usually resolves spontaneously within a few months, if not requires neuro input
Define Erb’s palsy
Describe the aetiology/risk factors for Erb’s palsy
Describe the appearance of Erb’s palsy
How is Erb’s palsy managed?
Injury to C5/6 nerves of brachial plexus during birth
Associated with shoulder dystocia, traumatic or instrumental delivery and large birth weight
Leads to weakness of shoulder abduction and external rotation, arm flexion and finger extension
Leads to ‘waiters tip’ appearance:
Internally rotated shoulder, extended elbow, flexed pronated wrist, lack of movement in affected arm
Function normally returns spontaneously, if not need neuro input
Describe the aetiology/risk factors for clavicle fracture in the neonate
Presentation of clavicle fracture in the neonate
Diagnosis
Management
Complications
Fractured during birth - shoulder dystocia, traumatic or instrumental delivery, large birth weight
Usually picked up during newborn examination with - lack of movement, asymmetry of arms/shoulders (affected shoulder lower), pain and distress on arm movement
Can be confirmed with US/X-ray
Conservative management -
?immobilisation of affected arm
Complication - brachial plexus injury with nerve palsy
List the most common birth injuries which neonates can present with
Caput succedaneum
Cephalohaematoma
Facial palsy
Erb’s palsy
Clavicle fracture
What causes haemolytic disease of the newborn?
Rhesus incompatibility - rhesus D negative mother and rhesus D positive fetus
Previous sensitisation means mother produces anti-D antibodies, cross placenta and cause haemolysis of fetal RBCs
How does haemolytic disease of the newborn present?
Mild - anaemia (pallor, tachycardia, tachypnoea), hyperbilirubinaemia, jaundice
Severe - severe anaemia, jaundice, hepatomegaly, splenomegaly, kernicterus, oedema (hydrops), respiratory distress
How is haemolytic disease of the newborn managed?
Blood transfusion for severe anaemia
IV fluids
Respiratory support
Exchange transfusion - lower bilirubin levels
IV immunoglobulins
Prevention - anti-D given at any sensitisation events/after previous births
What is breast milk jaundice?
What causes it?
How does it present?
How is it managed?
Jaundice in breastfed neonates
Typically presents in 1st/2nd week of life, usually spontaneously resolves without discontinuation of breastfeeding, can persist for 8-12 weeks
Aetiology not completely understood - components of breast milk inhibit liver’s conjugation of bilirubin, breastfed babies more likely to become dehydrated if inadequate feeding, slow passage of stools
Encourage to keep breastfeeding, give breastfeeding advice and support
Describe the aetiology of newborn jaundice
Hyperbilirubinaemia - breakdown of red blood cells produces unconjugated bilirubin, conjugated in the liver
Conjugated bilirubin excreted via biliary system into GI tract and urine
Neonatal jaundice due to increased production of bilirubin or decreased clearance of bilirubin
List causes of neonatal jaundice
Increased production of bilirubin:
Haemolytic disease of the newborn
ABO incompatibility
Haemorrhage
Intraventricular haemorrhage
Cephalo-haematoma
Polycythaemia
Sepsis and disseminated intravascular coagulation
G6PD deficiency
Decreased clearance of bilirubin:
Prematurity
Breast milk jaundice
Neonatal cholestasis
Extra-hepatic biliary atresia
Endocrine disorders (hypothyroid and hypopituitary)
Gilbert syndrome
How should a newborn with jaundice be assessed?
FBC and blood film for polycythaemia or anaemia
Conjugated bilirubin - hepatobiliary cause
Blood type testing of mother and baby for ABO rhesus incompatibility
Direct Coombs test for haemolysis
Thyroid function
Blood and urine cultures if infection suspected
Glucose-6-phosphate-dehydrogenase levels for G6PD deficiency
LFTs if suspect hepatobiliary disorder
U&Es if excessive weight loss/dehydrated
Jaundice in first 24 hours of life is pathological - need urgent investigation and management
Most serious cause is neonatal sepsis - need to treat for sepsis if any other clinical features or risk factors
Define physiological jaundice in the neonate and describe its aetiology
Describe its presentation
How is it managed?
Jaundice in a healthy baby, born at term
May be due to:
Increased red blood cell breakdown - fetus has high concentration of Hb in utero (to maximise oxygen exchange and delivery to fetus), breaks down at birth releasing bilirubin
Immature liver not able to process high bilirubin concentrations
Starts on day 2/3 of life, usually resolves by day 10
Usually requires no intervention
Define prolonged jaundice
What is done in prolonged jaundice?
What can cause it?
> 14 days in full term babies
21 days in premature babies
Should investigate further to look for underlying cause
Causes of jaundice which persist after initial neonatal period - biliary atresia, hypothyroidism, G6PD deficiency
List risk factors for neonatal jaundice
Prematurity
Low birth weight
Small for dates
Previous sibling required phototherapy
Exclusively breast fed
Jaundice <24 hours
Infant of diabetic mother
How is neonatal jaundice managed?
Total bilirubin levels monitored and plotted on treatment threshold charts - age of baby on x-axis and total bilirubin level on y-axis
If total bilirubin level reaches threshold need to be commenced on treatment to lower bilirubin level
Phototherapy - converts unconjugated bilirubin into isomers that can be excreted in bile and urine without requiring conjugation in liver
Eye patches used to protect eyes
Light box with blue light used (little/no UV light)
Monitor bilirubin during treatment
Exchange transfusions used if extremely high levels of bilirubin - remove neonate blood and replace with donor blood
IV immunoglobulin in rhesus disease or ABO haemolytic disease
What is kernicterus?
How does it present?
Brain damage due to excessive bilirubin levels
Bilirubin crosses blood-brain barrier, causes damage to brain
Less responsive, floppy, drowsy baby with poor feeding
Causes cerebral palsy, learning disability and deafness
What is kernicterus?
How does it present?
What are the potential complications?
Brain damage due to excessive bilirubin levels
Bilirubin crosses blood-brain barrier, causes damage to brain
Less responsive, floppy, drowsy baby with poor feeding
Causes cerebral palsy, learning disability and deafness
Define biliary atresia
What are the consequences of biliary atresia?
Congenital condition, section of bile duct is narrowed or absent
Results in cholestasis, prevents excretion of conjugated bilirubin
Causes persistent neonatal jaundice
Define biliary atresia
What are the consequences of biliary atresia?
Congenital condition, section of bile duct is narrowed or absent
Results in cholestasis, prevents excretion of conjugated bilirubin
Causes persistent neonatal jaundice
How is biliary atresia diagnosed and managed?
Suspect if persistent neonatal jaundice (>14 days if full-term, >21 days if premature)
Diagnose by measuring conjugated and unconjugated bilirubin - high proportion of conjugated bilirubin
Management - surgery
Kasai portoenterostomy - attach section of small intestine to opening of liver, where bile duct normally attaches
List the complications associated with prematurity - short and long-term
Immediate:
Respiratory distress syndrome
Hypothermia
Hypoglycaemia
Poor feeding
Apnoea
Bradycardia
Neonatal jaundice
Intraventricular haemorrhage
Retinopathy of prematurity
Necrotising enterocolitis
Immature immune system and infection
Long term:
Chronic lung disease of prematurity
Learning and behavioural difficulties
Susceptibility to infections, particularly respiratory tract infections
Hearing and visual impairment
Cerebral palsy
How does pneumothorax present in a neonate?
Can be asymptomatic
Tachypnoea
Extra noises with breathing - grunting
Cyanosis
Asymmetrical chest expansion
Respiratory distress
Hypotension
Reduced air entry
What causes pneumothorax in newborns?
Respiratory distress syndrome - prematurity
Meconium aspiration syndrome
Use of CPAP or ventilation
Persistent pulmonary hypertension
Spontaneous in neonate with no underlying disorder
How is pneumothorax in the newborn diagnosed and managed?
Positive transillumination - free air around lung
Confirmed with CXR
Treatment:
Oxygen
Aspiration of air with needle and syringe
Chest drain if serious respiratory distress
List causes of respiratory distress in the neonate
Transient tachypnoea of the newborn (1st 8 hours)
Respiratory distress syndrome (surfactant deficiency)
Meconium aspiration
Pneumothorax
Respiratory Infection
Chronic lung disease
Bronchopulmonary dysplasia
List common pathogenic causes of neonatal sepsis
Group B strep
E Coli
Listeria
Klebsiella
Staph aureus
List risk factors for neonatal sepsis
Vaginal group B strep colonisation
Group B strep sepsis in previous baby
Maternal sepsis, chorioamnionitis or fever >38
Prematurity (<37 weeks)
Premature rupture of membranes
Prolonged rupture of membranes
Describe the clinical presentation of neonatal sepsis
Altered behaviour or responsiveness
Altered muscle tone - floppiness
Feeding difficulties
Feed intolerance - vomiting, gastric aspirates, abdominal distension
Abnormal heart rate - bradycardia or tachycardia
Signs of respiratory distress - starting >4 hours after birth
Hypoxia - cyanosis, reduced sats
Jaundice within 24 hours of birth
Apnoea
Signs of neonatal encephalopathy
Seizures
Need for cardio-pulmonary resuscitation
Need for mechanical ventilation (especially in a term baby)
Persistent pulmonary hypertension
Temperature abnormality - <36 or >38
Signs of shock
Unexplained excessive bleeding, thrombocytopaenia, abnormal coagulation
Oliguria >24 hours after birth
Altered glucose haemostasis - hypoglycaemia or hyperglycaemia
Metabolic acidosis
Local signs of infection - skin, eye
List red flag symptoms/signs of neonatal sepsis
Confirmed or suspected sepsis in mother
Signs of shock
Seizures
Term baby needing mechanical ventilation
Respiratory distress >4 hours after birth
Suspected or confirmed infection in a co-twin
What is the differential diagnosis of neonatal sepsis?
Transient tachypnoea of the newborn
Surfactant deficient lung disease/respiratory distress syndrome
Meconium aspiration
Haemolytic disease of the newborn
Bacterial meningitis
Urinary tract infection
How should neonatal sepsis be investigated?
FBC
CRP
Blood cultures
If obvious source - relevant swabs/cultures
LP if suspicion of meningitis
How is neonatal sepsis managed?
One risk factor or clinical feature - monitor observations and clinical condition for 12 hours
Two or more risk factors or clinical features - start antibiotics
One red flag - start antibiotics
Take blood cultures before giving antibiotics
Antibiotics - IV benzylpenicillin with gentamicin
Consider stopping antibiotics if baby clinically well, blood cultures are negative and CRP results are normal
If blood cultures positive - antibiotics for 7-10 days, up to 14 if LP positive
Define early and late onset neonatal sepsis
Early onset - within first 48-72 hours of life
Late onset - >72 hours of life
What is meconium?
Dark green, sticky, lumpy faecal material produced during pregnancy
Usually released from bowels after birth
Can be passed in utero - causing aspiration
Describe the pathophysiology of meconium aspiration syndrome
Caused by in-utero peristalsis - due to foetal hypoxic stress or vagal stimulation due to cord compression
Stimulates release of vasoactive and cytokine substances that activate inflammatory pathways, inhibits effect of surfactant in the lungs
Causes airway obstruction, fetal hypoxia, pulmonary inflammation, infection/pneumonitis, surfactant inactivation, persistent pulmonary hypertension
List risk factors for meconium aspiration syndrome
Gestational age >42 weeks
Fetal distress - tachycardia/bradycardia
Intrapartum hypoxia secondary to placental insufficiency
Thick meconium
Apgar score <7
Chorioamnioitis +/- prolonged pre-rupture
Oligohydramnios
In utero growth restriction
Maternal hypertension, diabetes, pre-eclampsia, smoking, drug abuse
Describe the clinical presentation of meconium aspiration syndrome
Tachypnoea
Tachycardia
Cyanosis
Grunting
Nasal flaring
Recessions - intercostal, supraclavicular, tracheal tug
Hypotension
How is meconium aspiration syndrome diagnosed?
Clinical diagnosis - difficult as overlaps with many other conditions
Investigations:
CXR
Infection markers - FBC, CRP, blood cultures
ABG
Dual pulse oximetry
Echo
Cranial US
Describe the signs of meconium aspiration syndrome on CXR
Increased lung volumes
Asymmetrical patchy pulmonary opacities
Pleural effusions
Pneumothorax or pneumomediastinum
Multifocal consolidation – due to chemical pneumoniti
What does this X-ray show?
Bilateral asymmetric opacifications
Meconium aspiration syndrome in neonate
How is meconium aspiration syndrome managed?
Observation - for respiratory distress, oxygen saturations
Routine care - warming, nutritional support with IV fluids, switch to NG and oral feeds when able
Ventilation/oxygen therapy - nasal cannula if respiratory distress, CPAP if less severe, can be intubated and mechanically ventilated if not responding
Antibiotics - if clinical suspicion of infection
Surfactant - if moderate MAS or pneumothorax present, can carry out lung lavage with surfactant if severe
Inhaled nitric oxide - to manage concurrent pulmonary hypertension, investigate for right-to-left shunts
Corticosteroids - not recommended
List potential complications of meconium aspiration syndrome
Air leak - pneumothorax or pneumomediastinum, presents with compromised pulmonary or cardiac function
Persistent pulmonary hypertension of the neonate - can be result, complication or differential diagnosis for MAS
Cerebral palsy - can cause cerebral hypoxia
Chronic lung disease
Death
What is the commonest cause of respiratory distress in a neonate?
Transient tachypnoea of the newborn
When does transient tachypnoea of the newborn present and how long does it last?
Presents in first 8 hours, lasts 1-2 days
List risk factors for transient tachypnoea of the newborn
Prematurity
Caesarean section - fluid not pushed out of lungs by passage through vaginal canal
How is transient tachypnoea of the newborn managed?
Observation, supportive care
Supplementary oxygen if required to maintain saturations
Describe the presentation of biliary atresia
Jaundice and cholestasis in first few weeks of life - persists >2 weeks
Hepatomegaly and splenomegaly
Abnormal growth
What are the potential complications of biliary atresia?
Unsuccessful anastomosis formation
Progressive liver disease
Cirrhosis with eventual hepatocellular carcinoma
May need liver transplantation in first few weeks of life if management unsuccessful
Describe the pathophysiology of respiratory distress syndrome in neonates
Occurs in premature neonates (<32 weeks) due to inadequate surfactant and therefore high surface tension within alveoli –> atelectasis
Inadequate gaseous exchange - hypoxia, hypercapnia and respiratory distress
How is neonatal respiratory distress syndrome managed?
Antenatal steroids if suspected or confirmed pre-term labour - increases production of surfactant, reduces incidence and severity of respiratory distress syndrome
May need:
Intubation and ventilation
Endotracheal surfactant - artificial surfactant delivered to lungs via endotracheal tube
Continuous positive airway pressure (CPAP) to keep lungs inflated while breathing
Supplementary oxygen to maintain sats
List short and long-term complications of neonatal respiratory distress syndrome
Short-term:
Pneumothorax
Infection
Apnoea
Intraventricular haemorrhage
Pulmonary haemorrhage
Necrotising enterocolitis
Long-term
Chronic lung disease of prematurity
Retinopathy of prematurity - more common/severe
Neurological, hearing and visual impairment
Define neonatal apnoea
Absence of breathing in a neonate for a period of >15 seconds often associated with bradycardia and/or desaturation
What causes neonatal apnoea?
Apnoea of prematurity - immaturity of respiratory centre in brain, onset during day 1-7 of life
Airway obstruction
Drugs - opiates, general anaesthetic
Sepsis
Metabolic - hypoglycaemia, hypothermia, hyperthermia
Pain
Respiratory - atelectasis, phrenic nerve paralysis (can occur during birth), pneumothorax, aspiration
Cardiovascular - cardiac failure
CNS - seizures, neuromuscular disorders
How is neonatal aspiration/bradycardia?
Usually resolve spontaneously
Gentle tactile stimulation can help
If no response and cyanotic may need bag mask ventilation
Suction mouth and nostrils is necessary
Can use CPAP
BLS pathway if doesn’t resolve
Define hypothermia in the neonate
Core temperature <36.5
What causes hypothermia in the neonate?
Environmental - bare, wet skin exposed to cool environment
Disorders which impair thermoregulation - sepsis, drug withdrawal, prematurity
Newborns are prone to rapid heat loss and hypothermia due to high surface area to body mass ratio, low subcutaneous fat, immature skin, poorly developed metabolic mechanisms and altered skin blood flow
How is hypothermia in neonates managed/prevented?
Rewarming in an incubator or under a radiant warmer
Monitoring for hypoglycaemia, hypoxia, apnoea
Treatment of underlying conditions e.g. sepsis
Prevention:
Maintain appropriate environmental temperature - 25-28 degrees room temperature
Immediately dry and place in skin-to-skin contact with mother, wear hat
If preterm can place in polyethylene bag
Define neonatal hypoglycaemia
Plasma glucose concentration of <2.5mmol/L
<3mmol/L in those with suspected hyperinsulinaemia in the first 48 hours
How does hypoglycaemia in a neonate present?
Hypotonia
Lethargy
Poor feeding or other abnormal feeding behaviours
Hypothermia
Apnoea
Irritability
Pallor
Tachypnoea
Tachycardia or bradycardia
Seizures
Which neonates should have blood glucose monitoring and treatment?
Signs/symptoms of hypoglycaemia
Risk factors for hypoglycaemia
Pre-term - born at 34-36+6 weeks
How should blood glucose be tested in a neonate?
Blood gas analysis is gold standard method
Near-patient testing not accurate at low blood glucose levels (<2)
List risk factors for neonatal hypoglycaemia
Intrauterine growth restriction in term infants
Born at <37 weeks gestation regardless of weight centile
Maternal diabetes - both pre-existing and gestational
Macrosomic babies - >4.5kg
Infants of mothers taking B-blockers in 3rd trimester
Hypothermia
Hypoxia - prolonged resuscitation or cord pH <7.1
How is neonatal hypoglycaemia prevented?
Prevent hypothermia - dry at birth, cover, put a hat on, avoid bathing for first 24 hours, skin-to-skin
First feed within first 60 minutes, or hand express colostrum and give to baby
Blood glucose monitoring and clinical surveillance
Encourage effective ongoing feeding - responsive feeding if baby alert or proactive if sleepy
How is neonatal hypoglycaemia managed?
Pre-feed BM 2-2.5mmol/L and no clinical signs
Additional feed, give frequent feeds at least 3 hourly
Pre-feed BM 1-1.9 and no clinical signs
Involve neonatal doctor
40% buccal glucose 200mg/kg, wait 30-60 minutes and check again, give second dose if needed
Continue feeding
Pre-feed BM <1 or clinical signs
Involve neonatal doctor
Investigations for hypoglycaemia
IV 10% glucose or IM glucagon followed by IV glucose
Recheck 30 minutes later - increase IV glucose or wean off depending on results
Continue breastfeeding until too unwell
How is apnoea of prematurity prevented?
Caffeine citrate - given to babies <30 weeks gestation within 2 hours of birth until 33 weeks
Define persistent pulmonary hypertension of the newborn and describe its pathophysiology
Failure in the systemic and pulmonary circulation to convert from the antenatal circulation pattern to the normal pattern
Pulmonary hypertension is normal for fetus due to high pulmonary vascular resistance - oxygen delivery from placenta not lungs, most of right ventricular output crosses the ductus arteriosus to the aorta so high pressure in pulmonary vessels to prevent blood going to lungs
Pulmonary vascular resistance drops at birth - allows blood to circulate through lungs and back to heart
When normal cardiopulmonary transition fails to occur it results in persistent pulmonary hypertension - causes extrapulmonary shunting of blood through usually still patient ductus arteriosis and hypoxaemia
List causes of persistent pulmonary hypertension in the neonate
Normal vascular anatomy with functional vasoconstriction due to - hypoxia, meconium aspiration, respiratory distress syndrome (good prognosis)
Decreased diameter of pulmonary vessels and hypertrophy of vessel walls - post-term, placental insufficiency, NSAID use by mother (poor prognosis)
Decreased size of pulmonary vascular bed - pleural effusion, diaphragmatic hernias (poor prognosis)
Functional obstruction of pulmonary blood flow - polycythaemia, hyperfibrinogenaemia (good prognosis if reversible)
How is persistent pulmonary hypertension of the neonate diagnosed and managed?
Diagnosis -
Echo
ECG
Blood gases - high partial pressures of oxygen and CO2
Pre- and post-ductal oxygen saturations - gradient of >10% between pre- and post-
Management
Oxygen therapy
Mechanical ventilation
Pulmonary vasodilators - inhaled nitrous oxide, sildenafil, milrinone
Steroids
Surfactant instillation
ECMO
Maintain normal temperature, electrolytes, glucose, intravascular volume
How does persistent pulmonary hypertension of the neonate present?
Cyanosis
Respiratory distress
Tachypnoea
Tachycardia
Grunting
Retractions
When does the ductus arteriosus usually close? How does this happen?
Usually stops functioning within 1-3 days of life (usually in first 24 hours in term babies) and closes completely in first 2-3 weeks
Increasing arterial PaO2 + decreasing prostaglandin levels from the placenta and secretion of bradykinin by the lung interstitium causes circular smooth muscle contraction in the wall of the ductus arteriosus, eventually ischaemia of vessel wall and necrosis –> becomes ligamentum arteriosus
Describe the pathophysiology of symptoms in patent ductus arteriosus
Higher pressure in aorta than pulmonary vessels, blood flows from aorta to pulmonary vessels = left to right shunt
Increases pressure in pulmonary vessels causing pulmonary hypertension, right heart strain and right ventricular hypertrophy
Also back flow of blood into left side of heart leading to left ventricular hypertrophy
Decreased systemic blood flow - reduced blood to brain, GI tract, kidneys
How does patent ductus arteriosus present?
Shortness of breath
Difficulty feeding
Poor weight gain
Lower respiratory tract infections
Bounding pulses
Wide pulse pressure
Hypotension
Renal impairment
Murmur heard on newborn examination - may not be heard if small patent ductus arteriosus, more significant cause continuous crescendo-decrescendo ‘machinery’ murmur which continues during second heart sound, making it difficult to hear
How is patent ductus arteriosus diagnosed?
CXR - enlarged heart, bilateral lung field haziness associated with pulmonary oedema, air bronchograms
Echo with doppler - left to right shunt, changes to heart e.g. right and/or left ventricular hypertrophy
How is patent ductus arteriosus managed?
If asymptomatic and no evidence of heart failure - monitored until 1 year old using echo, after 1 year highly unlikely to close spontaneously, need intervention for closure
If symptomatic neonatally/evidence of large shunt on ECHO -
COX inhibitors e.g. ibuprofen, indomethacin, reduced efficacy with time
NIV, mechanical ventilation
Don’t give steroids with COX inhibitors due to risk of spontaneous intestinal perforation
Surgical management -
PDA ligation, >3 weeks old due to risk of adverse events before
What is the differential diagnosis for a term infant presenting with seizures?
CNS infection - group B strep, E. coli, herpes simplex encephalitis
Birth trauma - subarachnoid or subdural haemorrhages, associated with ventouse extraction/instrumental deliveries
Inborn errors of metabolism e.g. pyridoxine deficiency
Hypoglycaemia
Opiate withdrawal
CNS malformation
Benign familial neonatal convulsions
Cerebral artery infarction
List causes of brain injury in the preterm newborn
Hypoxia-ischaemia
Maternal fetal infection
Drug exposure
Postnatal sepsis
Inflammation
Intraventricular haemorrhage
How is preterm brain injury managed?
Regular surveillance with cranial ultrasound scanning
Administration of anti-epileptic drugs if seizures - phenobarbital and phenytoin
Referral to neurosurgical team if needed
Long-term neurodevelopmental follow-up and support as necessary
Which babies are affected by retinopathy of prematurity?
<32 weeks gestation, low birth weight
Describe the pathophysiology of retinopathy of prematurity
Retinal blood vessel development starts at 16 weeks gestation, complete by 37-40 weeks
Vessel formation stimulated by hypoxia of the retina during pregnancy, when retina is exposed to higher oxygen concentrations the stimulus is removed
When hypoxic environment recurs, retina responds by producing excessive blood vessels (neovascularisation) and scar tissue - abnormal blood vessels can regress and leave retina without blood supply, scar tissue can cause retinal detachment
Describe the screening for retinopathy of prematurity
<32 weeks or under 1.5kg should be screened
Done at 30-31 weeks gestational age in babies born before 27 weeks or 4-5 weeks old in babies born after 27 weeks
Screening by ophthalmologist done every two weeks, can cease once retinal vessels have reached the outer zone of the retina, usually around 36 weeks gestational age
How is retinopathy of prematurity managed?
Transpupillary laser photocoagulation to halt and reverse neovascularisation - 1st line
Other options - cryotherapy, injections of intravitreal VEGF inhibitors
Surgery if retinal detachment
List risk factors for necrotising enterocolitis
Prematurity or very low birth weight
Formula feeding - breastfeeding is protective
Intrauterine growth restriction
Polycythaemia
Exchange transfusion
Hypoxia
Respiratory distress and assisted ventilation
Sepsis
Patient ductus arteriosus and other congenital heart disease
Antibiotic treatment
Describe the clinical presentation of necrotising enterocolitis
Feeding intolerance
Vomiting - bile or blood stained
Abdominal distension
Haematochezia
Abdominal tenderness
Abdominal oedema
Erythema
Palpable bowel loops
Systemically unwell - letharygy, bradycardia/tachycardia, shock
How is necrotising enterocolitis diagnosed?
Abdominal X-ray
Distended bowel loops
Oedema - thickened bowel wall
Intramural gas - pneumatosis intestinalis
Pneumoperitoneum - perforation
Gas in portal vein
Other investigations
FBC (anaemia, thrombocytopaenia, leukopaenia/leukocytosis), CRP, capillary blood gas (metabolic acidosis), blood cultures, U&Es (hyponatraemia)
Describe the scoring system for necrotising enterocolitis
Bell scoring system - based on clinical features and abdominal X-ray
Stage 1 - suspected NEC
Bowel distension only on AXR
Systemically unwell and abdominal symptoms but not severe with blood gas abnormalities etc.
Stage 2 - definite NEC
Distension, pneumatosis intestinalis on AXR
Stage 1 plus metabolic acidosis, thrombocytopaenia, abdominal tenderness, absent bowel signs
Stage 3 - advanced NEC
Stage II plus pneumoperitoneum on AXR
Severe acidosis, electrolyte abnormalities, marked GI bleeding
How is necrotising enterocolitis prevented in premature infants?
Prophylactic antenatal steroids
Breastfeeding
?Probiotics
How is necrotising enterocolitis managed?
Medical management - Bell stage I and II
Nil by mouth - withhold oral feeds for 10-14 days, replace with parenteral nutrition
NG tube insertion to drain fluid and gas
IV antibiotics for 10-14 days
Systemic support - ventilatory support, fluid resuscitation, correction of acid-base balance/coagulopathy/thrombocytopaenia
Surgical management
Indications - perforation, GI obstruction secondary to stricture formation, deterioration despite medical management
Most common procedure is intestinal resection with stoma formation, can also do primary anastomosis, stoma formation without resection, clip and drop with resection
List the potential complications of necrotising enterocolitis
Short-term:
Bowel perforation
Sepsis
Death
DIC
Long-term:
Intestinal stricture
Short-bowel syndrome
Neurodevelopmental disorders
NEC recurrence
Long-term need for stoma
Abscess formation
Describe the clinical presentation of chronic lung disease of prematurity
Low oxygen sats
Increased work of breathing
Poor feeding and weight gain
Crackles and wheezes on chest auscultation
Increased susceptibility to infection
Define chronic lung disease of prematurity and describe its consequences
Aka bronchopulmonary dysplasia
Lung dysfunction in premature babies, typically those born before 28 weeks
Causes respiratory distress syndrome and oxygen or intubation and ventilation requirement - persists past 36 weeks
How is chronic lung disease of prematurity diagnosed?
Requirement for oxygen therapy/intubation after 36 weeks gestational age in premature baby
CXR changes
How is chronic lung disease of prematurity prevented/managed?
Prevention:
Give steroids antenatally in suspected/confirmed pre-term labour, <36 weeks
Once born use CPAP rather than intubation and ventilation when possible, give caffeine, don’t over-oxygenate
Management:
Sleep study to assess saturations during sleep
May be discharged on oxygen - wean during 1st year of life
Require RSV protection - monthly palivizumab, prevent bronchiolitis
List the important congenital abnormalities which should be identified at the newborn baby check
Face/head:
Dysmorphic facial features e.g. Down’s
Microcephaly/macrocephaly
Congenital cataracts, retinal detachment, retinoblastoma
Clefts
Tongue-tie (ankyloglossia)
Shoulders and arms:
Erb’s palsy
Number and morphology of digits
Single palmar crease - ?Down’s
Chest:
Pectus excavatum or carinatum
Murmurs
Abdomen/groin:
Diaphragmatic hernia
Polycystic kidney disease
Inguinal hernia
Hypospadia/epispadia
Cryptorchidism
Fused labia
Patency of anus
Lower limbs:
Developmental dysplasia of the hip
Talipes equinovarus
Number and morphology of digits
Back and spine:
Neural tube defects
Scoliosis
Define oesophageal atresia
Congenital condition in which oesophagus ends in blind-ended pouch rather than connecting to the stomach
Associated with tracheo-oesophageal fistula - communication between trachea and oesophagus
How does oesophageal atresia present?
Choking
Excessive drooling
Respiratory distress - aspiration pneumonia
Cyanotic episodes during feeding
Abdominal distension if fistula
More common in those with polyhydramnios in 3rd trimester
Other congenital abnormalities - vertebral column, anorectal, cardiac, tracheal, renal, limbs
How is oesophageal atresia diagnosed and managed?
Diagnosis - unable to pass NG tube to stomach, can confirm with CXR
Treatment - surgical repair
If gap between upper and lower oesophageal segments too wide may need to wait for oesophagus to grow before surgery - G-tube feeding until then
List complications of oesophageal atresia
GORD
Dysphagia
Respiratory tract infections
Oesophagitis, Barrett’s oesophagus, oesophageal cancer
Surgical complications:
Oesophageal anastomotic leak
Oesophageal anastomotic stricture
List the top 5 causes of a vomiting baby
Overfeeding
Possetting (regurgitation - normal)
GORD
Pyloric stenosis
Obstruction - bilious vomiting is obstruction until proven otherwise
Define pyloric stenosis
Hypertrophy and narrowing of the pylorus - prevents food travelling from stomach to duodenum (gastric outlet obstruction)
List risk factors for pyloric stenosis
Male gender
Family history
First born
Describe the clinical presentation of pyloric stenosis
Age of onset 2-6 weeks
Rapidly progressive projectile vomiting soon after feeds without bile
Hungry, pale baby with acute weight loss, dehydration, hypochloraemia, hypokalaemia, metabolic alkalosis
Can cause constipation, haematemesis
Signs while feeding - palpable olive-sized pyloric mass, visible gastric peristalsis
How is pyloric stenosis diagnosed?
Typical signs during test feed (with NG in situ) - visible gastric peristalsis, pyloric mass
Ultrasound - hypertrophy of pyloric muscle, wall thickness >3mm, length >15mm and diameter >11mm
Other investigations:
Blood gas - hypochloraemic, hypokalaemic, metabolic alkalosis
U&Es - deranged due to dehydration
How is pyloric stenosis managed?
Pre-operative management:
Correct underlying metabolic abnormalities and hypovolaemia
Stop oral feeding, pass NG tube and aspirate 4 hourly
Check blood gases and U&Es regularly
Initial rehydration then maintenance fluids
Surgical management:
Ramstedt pyloromyotomy - after fluid and electrolyte abnormalities corrected
Laparoscopic or through supra-umbilical incision
Can resume feeding after 6 hours - post-operative vomiting common and isn’t necessarily a sign of incomplete myotomy
List potential complications of pyloric stenosis
Pre-operative:
Hypovolaemia
Electrolyte abnormalities
Apnoea - hypoventilation due to metabolic acidosis
Post-operative:
Wound dehiscence
Infection
Bleeding
Perforation
Incomplete myotomy
List the top 5 causes of bilious vomiting in a baby
- Malrotation +/- volvulus until proven otherwise
- NEC (Necrotising Enterocolitis)
- Atresia
- Hirschsprungs disease (Aganglionic Megacolon)
- Meconium disease i.e. meconium ileus, meconium plug syndrome
Define malrotation and describe the normal embryological development of the midgut
Occurs due to failure of normal sequence of rotation and fixation of the midgut which occurs between the 4th and 12th week of gestation
Primitive gut tube develops during week 3-4, divided into foregut, midgut and hindgut.
Foregut = oesophagus, stomach, liver, gallbladder, bile ducts, pancreas, proximal duodenum
Midgut = distal duodenum, jejunum, ileum, caecum, appendix, ascending colon, proximal 2/3 of transverse colon
Hindgut = distal 1/3 of transverse colon, descending colon sigmoid colon and upper anal canal
Midgut develops between weeks 6-10, loop herniates through primitive umbilical ring at week 6, rotates 270 degrees anticlockwise around the superior mesenteric artery and returns to the abdominal cavity
Large intestine does an additional 180 degree turn anticlockwise
Colonic fixation occurs after return to abdomen
Commonest abnormality means caecum is close to duodenojejunal flexure which results in an abnormally narrow midgut mesentery which is liable to twist - volvulus
Also have fibrous Ladd’s bands which run across the duodenum and can constrict it
Causes obstruction
How does malrotation present?
Can be asymptomatic if doesn’t cause obstruction
Usually presents 3-7 days after birth - discharged from hospital then present with bilious vomiting
Acute volvulus/obstruction presents with acute bilious vomiting, constipation, abdominal tenderness and distension, dehydration/shock, acidosis
Chronic - feeding intolerance, failure to thrive
How is malrotation diagnosed and managed?
Plain AXRs can be misleading - barium contrast studies are used for diagnosis
Management:
Resuscitation - nil by mouth, NG tube, IV fluids
Emergency laparotomy to repair - Ladd’s procedure
Define Hirschprung’s disease and describe its aetiology and the relevant embryology
Congenital intestinal motility disorder due to anganglionosis of the distal large intestine
Absence of enteric parasympathetic ganglion cells of the myenteric plexus (Auerbach’s plexus) in the distal bowel and rectum
Normally during fetal development there is craniocaudal migration of neural crest cells during the first trimester, in which parasympathetic ganglion cells migrate from higher in the GI tract to the distal colon
Hirschprung’s there is failure of migration and a section of the colon is aganglionic - length of affected section varies in length
Lack of innervation leads to tonic contraction of the aganglionic - lack of effective peristalsis and failure of the internal anal sphincter
Causes functional colonic obstruction and dilation of the proximal healthy colon
Genetics:
At least 24 genes discovered which could be related
Most commonly implicated is receptor tyrosine kinase (RET) gene
Also associated with other congenital abnormalities e.g. Down’s, neurofibromatosis, Waardenburg syndrome, MEN type II
List the subtypes of Hirschprung’s disease
Short segment - commonest, 80%, only involves rectosigmoid segment
Long segment - extends beyond sigmoid colon to splenic flexure/transverse colon, 15-20%
Total colonic aganglionosis - 5%, entire colon involved
List the risk factors for Hirschprung’s disease
Family history - most are sporadic but 10% familial
Male sex - 4:1 M:F
Chromosomal associations - Down’s syndrome commonest, also MEN2a and Waardenburg’s syndrome
Describe the presentation of Hirschprung’s disease
Most present as neonate
Severity depends on length of aganglionic segment
Typical triad of symptoms in neonate:
Failure to pass meconium within first 24-48 hours of life in a term infant
Abdominal distension
Bilious vomiting
Other symptoms
Irritability
Feeding intolerance
History of chronic constipation after birth
Faltering growth
Lethargy
Signs
Abdominal distension
Faecal mass in left lower quadrant
Increased bowel sounds which progressively decrease
PR exam - normal patent anus with increased sphincter tone, empty rectal vault, withdrawal of finger leads to blast sign - gush of liquid stool and flatus
How is Hirschprung’s disease diagnosed?
Rectal biopsy with acetylcholinesterase staining - absence of colonic ganglion cells
Other investigations:
AXR - distal intestinal obstruction, air-fluid levels, distended proximal bowel loops, absence of rectal gas
How is Hirschprung’s disease managed?
If unwell - IV fluid resuscitation
Identify and manage Hirschprung-associated enterocolitis
Definitive management
Surgical resection of aganglionic segment, pull-through of the proximal healthy bowel down to anal canal with preservation of sphincter function
Initially routine colonic irrigation done until surgery can be carried out to wash out intestinal contents and prevent enterocolitis resulting from bacterial overgrowth if there is faecal stasis
List potential complications of Hirschprung’s disease
Hirschprung’s associated enterocolitis
Bowel perforation
Post-operative:
Early - wound infection, pelvic abscess, anastomotic leak
Late - enterocolitis, constipation, faecal incontinence, bladder/sexual dysfunction
Describe the clinical presentation and management of Hirschprung-associated enterocolitis
Inflammation and obstruction of intestine
Presents within 2-4 weeks of birth with fever, abdominal distension, diarrhoea (often bloody) and features of shock/sepsis
Can lead to toxic megacolon and bowel perforation
Management
Sepsis 6 bundle
IV broad-spectrum antibiotics
IV fluid resuscitation
Routine colonic irrigation
NG bowel decompression
Nil-by-mouth
Define exomphalous and describe the clinical presentation and potential complications
Abdominal wall defect - failure of abdominal contents to return to abdominal cavity after umbilical herniation at 10-12 weeks gestation
Peritoneal outpouching forms sac which protrudes through umbilicus, can be mild (small loop) or severe (all abdominal organs)
Complications:
Immediate -
Rupture
Hypothermia
Trauma to contents during birth
Associated with other malformations - cardiac anomalies, neural tube defects, chromosomal abnormalities
Post-surgery -
Herniation
Intestinal dysfunction - can lead to volvulus, obstruction, intestinal necrosis
Short bowel syndrome
GORD
How is exomphalous managed?
Can be recognised prenatally but vaginal delivery not contraindicated unless very large and containing most of the liver as can cause dystocia
Sac is covered with warm, moist gauze after birth to protect
IV fluids and antibiotics
Delayed closure to allow for full assessment for other anomalies - may need staged surgeries if large
Define gastroschisis. How is it different to exomphalous?
Congenital abdominal wall defect - abdominal contents extend outside of abdomen through a paraumbilical orifice, usually to right of umbilicus
Variable size of hole - can be loops of intestines and other organs such as stomach and liver
No covering membrane, usually a smaller defect
How is gastroschisis managed? What are the potential complications?
Surgical repair - return exposed intestines to abdominal cavity and close hole
Can be done immediately or delayed, cover exposed organs with sterile dressings
May need staged surgeries
Fatal if untreated
Risk of necrotising enterocolitis, infections, volvulus
Define diaphragmatic hernia. When does the diaphragm develop embryonically?
Congenital defect in the diaphragm causing the abdominal contents to protrude into the thorax
Diaphragm develops between 4-12 weeks gestation.
List the most common types of diaphragmatic hernias
Bochdalek - posteriolateral defect
Morgagni - anteromedial defect
How do diaphragmatic hernias present?
Detected on antenatal US
Usually presents within first 24 hours of life
Dyspnoea
Respiratory distress
Cyanosis
Scaphoid abdomen
Bowel sounds in thorax
Reduced breath sounds on affected side
Displaced point of maximal impulse (displaced apex beat)
How is a diaphragmatic hernia diagnosed?
CXR - mediastinal shift, abdominal contents in chest cavity
How is diaphragmatic hernia managed?
What are the potential complications?
Resuscitation with ventilatory support after birth if respiratory distress
NG tube for decompression
Definitive - surgical repair of hernia
Complications:
Small bowel obstruction
Pulmonary hypoplasia on affected side
Define duodenal atresia
Describe its clinical presentation
Congenital absence or complete closure of a portion of the lumen of the duodenum
30% also have Down’s syndrome
Polyhydramnios prenatally as fetus unable to swallow amniotic fluid and absorb it in GI tract
Presents with bilious or non-bilious vomiting shortly after birth
Abdominal distension
‘Double-bubble’ sign on AXR - distended stomach and duodenum with pylorus separating them
How is duodenal atresia managed?
NG tube aspiration
IV fluids
Surgical correction - duodenoduodenostomy or duodenojejunostomy, can wait 24-48 hours after birth to allow fluid resuscitation etc.
List the features of congenital rubella syndrome
Congenital deafness
Congenital cataracts
Congenital heart disease (PDA and pulmonary stenosis)
Learning disability
List the features of congenital varicella syndrome and describe how it is prevented
Occurs with infection in <28 weeks gestation:
Fetal growth restriction
Microcephaly, hydrocephalus and learning disability
Scars and significant skin changes located in specific dermatomes
Limb hypoplasia
Cataracts and chorioretinitis
If exposed to chickenpox and non-immune - IV varicella immunoglobulins
If infection develops >20 weeks, present within 24 hours of rash - oral aciclovir
List the features of congenital cytomegalovirus infection
Fetal growth restriction
Microcephaly
Hearing loss
Vision loss
Learning disability
Seizures
List the features of congenital toxoplasmosis
Intracranial calcification
Hydrocephalus
Chorioretinitis
What are the consequences of antenatal parvovirus B19 for the neonate?
Hydrops fetalis
Severe fetal anaemia
List the features of congenital Zika syndrome
Microcephaly
Fetal growth restriction
Other intracranial abnormalities - ventriculomegaly and cerebellar atrophy
Define neonatal abstinence syndrome and list causes
Withdrawal symptoms in neonates of mothers who used substances in pregnancy - prescribed and illicit
Substances that cause neonatal abstinence syndrome:
Opiates
Benzodiazepines
Methadone
Cocaine
Amphetamines
Nicotine
Cannabis
Alcohol
SSRI antidepressants
Describe the clinical features of neonatal abstinence syndrome
Opiates, diazepam, SSRIs and alcohol - withdrawal between 3-72 hours after birth
Methadone, other benzodiazepines - withdrawal between 24 hours and 21 days
Symptoms:
Irritability
Hypertonic
High-pitched cry
Tremors
Seizures
Sweating
Pyrexia
Tachypnoea
Poor feeding
Regurgitation or vomiting
Hypoglycaemia
Loose stools
How is neonatal abstinence syndrome managed?
Monitoring for withdrawal symptoms of babies at risk
Urine sample to test for substances
Support in quiet, dim environment with gentle handling and comforting
Medical treatment:
Oral morphine sulfate for opiate withdrawal
Oral phenobarbitone for non-opiate withdrawal
Additional considerations:
Test for hepatitis B, C and HIV
Safeguarding and social service involvement
Support mother to stop using substances
Check suitability for breastfeeding
Describe the consequences of alcohol consumption during pregnancy
Greatest effect in first trimester
Can cause miscarriage, small for dates, preterm delivery
Foetal alcohol syndrome:
Microcephaly
Thin upper lip
Smooth flat philtrum
Short palpebral fissure
Learning disability
Behavioural difficulties
Hearing and vision problems
Cerebral palsy
What are the consequences of smoking during pregnancy on the neonate?
Low birth weight
Prematurity
Cleft lip/palate
Impaired brain development
Higher incidence of SIDs
Health problems long-term - asthma, otitis media, obesity, hypertension
What are the risks to the baby associated with gestational diabetes?
Macrosomia - birth injuries e.g. shoulder dystocia
Neonatal hypoglycaemia
Polycythaemia
Jaundice
Congenital heart disease
Cardiomyopathy
What is the difference between small for gestational age, low birth weight and fetal growth restriction?
Small for gestational age - fetus below 10th centile for their gestational age, based on measurements of weight and abdominal circumference taken via US, can be constitutionally small or due to fetal growth restriction
Low birth weight - <2.5kg
Fetal growth restriction/intrauterine growth restriction - pathologically small fetus
List causes of fetal growth restriction
Placenta-mediated - conditions affecting the transfer of nutrients across the placenta
Idiopathic
Pre-eclampsia
Maternal smoking
Maternal alcohol
Anaemia
Malnutrition
Infection
Maternal health conditions
Non-placenta mediated - fetal conditions
Genetic abnormalities
Structural abnormalities
Fetal infection
Errors of metabolism
What signs other than being small for gestational age can indicate fetal growth restriction?
Oligohydramnios
Abnormal dopplers
Reduced fetal movements
Abnormal CTG
List the potential complications of fetal growth restriction
Short-term:
Death or stillbirth
Birth asphyxia
Neonatal hypothermia
Neonatal hypoglycaemia
Long-term:
Cardiovascular disease, especially hypertension
T2DM
Obesity
Mood and behavioural problems
How is intrauterine growth restriction managed?
Increased monitoring - growth scans
Investigate for causes - BP and urine protein, doppler, fetal anatomy scan, karyotyping, testing for infections
Early delivery if static growth to reduce risk of stillbirth - give steroids
Describe the genetic basis of Down’s syndrome
Trisomy 21 - three copies of chromosome 21
Mechanisms:
Meiotic non-disjunction of the maternal chromosome 21 (95%)
Robertsonian translocation of unbalanced chromosomal material, usually between chromosome 14 and 21 (4%)
Mosaicism (1%)
What is the main risk factor for Down’s syndrome?
Maternal age - >35
Describe the clinical features of Down’s syndrome
Dysmorphic features:
Hypotonia
Hyperflexibility
Oblique palpebral fissues
Prominent epicanthic folds
Flat nasal bridge
Brachycephaly - flat occiput
Dysplastic, low-set, small ears
Small open mouth with protruding or furrowed tongue
High arched palate
Short neck with excessive skin at nape of neck
Simian palmar crease
Short, incurved pinky
Sandal toe deformity of feet
Congenital heart defects:
50%
Complete atrioventricular septal defect - most common
Ventricular septal defect
Atrial septal defect
Neurological disease:
Developmental delay and intellectual disability
Alzheimer’s
Respiratory disease:
Asthma
Obstructive sleep apnoea
GI disease:
Duodenal atresia
Imperforate anus
Tracheo-oesophageal fistula
Endocrine disease:
Hypothyroidism
Type 1 diabetes
Haematological disease:
Immunodeficiency
Transient myeloproliferative disorder
Polycythaemia
Acute megakaryoblastic leukaemia
Acute lymphoblastic leukaemia
Other:
Short stature and obesity
Ophthalmological disorders - cataracts, nystagmus, strabismus, glaucoma
Orthopaedic disorders - hip dislocation, foot deformities
Recurrent acute otitis media
Urological abnormalities - hypospadias, cryptorchidism
How is Down’s syndrome diagnosed?
Antenatal screening:
Combined test (11-14 weeks) - nuchal translucency on US (high), beta-HCG (high), pregnancy-associated plasma protein-A (PAPPA)
Triple test (14-20 weeks) - beta-HCG, AFP (low), serum oestriol (low)
Quadruple test (14-20 weeks) - triple test plus inhibin-A (high)
Antenatal testing - high risk from screening
CVS (<15 weeks), amniocentesis (15-20 weeks)
Non-invasive prenatal testing - blood test from mother to detect fetal DNA
How is Down’s syndrome managed?
MDT input -
OT
SLT
Physio
Dietician
Cardiologist - congenital heart disease
ENT
Audiologist
Routine follow-up investigations:
Regular thyroid function
Echo for cardiac defects
Regular audiometry for hearing impairment
Regular eye checks
Describe the genetic basis of Klinefelter’s syndrome
Male has additional X chromosome - 47XXY
List the features of Klinefelter’s syndrome
Tall
Wide hips
Gynaecomastia
Weak muscles
Small testicles
Reduced libido
Shyness
Infertility
Subtle learning difficulties - speech and language
How is Klinefelter’s syndrome managed?
Testosterone injections
Fertility treatments
Breast reduction surgery for cosmetic purposes
MDT input - OT, physio
Describe the complications associated with Klinefelter’s syndrome
Increased risk of breast cancer, osteoporosis, diabetes, anxiety, depression
Describe the genetic basis of Turner’s syndrome
Female with single X chromosome - 45 XO
List the features associated with Turner’s syndrome
Short stature
Webbed neck
High arched palate
Downward sloping eyes with ptosis
Broad chest, wide nipples
Cubitus valgus
Underdeveloped ovaries with reduced function
Late or incomplete puberty
Most are infertile
List the conditions associated with Turner’s syndrome
Recurrent otitis media
Recurrent UTIs
Coarctation of the aorta
Hypothyroidism
Hyperthyroidism
Obesity
Diabetes
Osteoporosis
Learning disabilities
How is Turner’s syndrome managed?
Growth hormone - height
Oestrogen and progesterone replacement - establish secondary sex characteristics, regulate menstrual cycle, prevent osteoporosis
Fertility treatment
Monitoring for associated conditions and complications and treatment as appropriate
Describe the genetic basis of Fragile X syndrome
Mutation in FMR1 (fragile X messenger ribonucleoprotein 1) gene on the X chromosome
X-linked, unlear if it is dominant or recessive
Males always affect, variable affect on females
If mother is phenotypically normal the affected child may have inherited the X-chromosome from their mother or it may result from a de novo mutation
List the features of Fragile X syndrome
Intellectual disability
Long, narrow face
Large ears
Large testicles after puberty
Hypermobile joints - particularly in the hands
ADHD
Autism
Seizures
How is Fragile X syndrome managed?
MDT involvement to manage symptoms - learning disability, autism, ADHD, seizures
Describe the genetic basis of Noonan syndrome
Various genes implicated
Normal karyotype
Usually autosomal dominant inheritance
List the features of Noonan syndrome
Short stature
Broad forehead
Downward sloping eyes with ptosis
Hypertelorism - wide space between eyes
Prominent nasolabial folds
Low set ears, triangular shaped
Webbed neck
Widely spaced nipples
List conditions associated with Noonan syndrome
Congenital heart disease - pulmonary valve stenosis, hypertrophic cardiomyopathy, ASD
Cryptorchidism - infertility
Learning disability
Coagulation disorders - factor XI deficiency
Lymphoedema
Increased risk of leukaemia and neuroblastoma
Describe the genetic basis of Patau’s syndrome
Trisomy 13 - three copies of chromosome 13
List the features of Patau’s syndrome
Microcephaly
Structural eye defects - microphthalmia, cataract, retinal dysplasia/detachment
Cleft lip/palate
Polydactyly
Overlapping fingers
Low set ears
Rocker-bottom feet
Omphalocele
Abnormal genitalia
Kidney defects
Heart defects - ventricular septal defect, patent ductus arteriosus
Dextrocardia
Describe the prognosis of Patau’s syndrome
90% mortality within first year
If survive past first year are typically severely disabled physically and mentally
Describe the genetic basis of Edward’s syndrome
Trisomy 18 - three copies of chromosome 18
List the features of Edward’s syndrome
Kidney malformation
Structural heart defects - ventricular septal defect, atrial septal defect, patent ductus arteriosus
Omphalocele
Oesophageal atresia
Intellectual disability
Microcephaly
Prominent occiput
Low set, malformed ears
Micrognathia - small jaw
Cleft lip/palate
Ocular hypertelorism
Ptosis
Rocker bottom feet
Webbed toes
Cryptorchidism
Describe the prognosis of Edward’s syndrome
95% of pregnancies don’t result in live birth
50% of live births don’t survive first week of life
Describe the genetic basis of Marfan’s syndrome
Autosomal dominant
FBN1 gene on chromosome 15 which codes for the protein fibrillin
Describe the features of Marfan’s syndrome
Tall stature
Long neck
Long limbs
Arachnodactyly - long fingers
High arched palate
Hypermobility
Pectus carinatum or pectus excavatum
Downward sloping palpable fissures
List the conditions associated with Marfan’s syndrome
Les dislocation
Joint dislocation and pain due to hypermobility
Scoliosis
Pneumothorax
GORD
Mitral valve prolapse + regurgitation
Aortic valve prolapse + regurgitation
Aortic aneurysms
Describe the genetic basis of Prader-Willi syndrome
Loss of genes on proximal arm of chromosome 15 inherited from father
List the features of Prader-Willi syndrome
Hyperphagia - obesity
Hypotonia
Learning disability
Hypogonadism
Mental health problems - anxiety
Narrow forehead
Almond shaped eyes
Strabismus
Thin upper lip
Downturned mouth
How is Prader-Willi syndrome managed?
Dietician - limit access to food
Growth hormone - improve muscle development and body composition
MDT input - psychologists/psychiatrists, physio, OT
Describe the genetic basis of Angelman’s syndrome
Loss of function of maternal UBE3A gene on chromosome 15
List the features of Angelman’s syndrome
Delayed development, learning disability
Ataxia
Fascination with water
Happy demeanour
Hand flapping
Abnormal sleep patterns
Epilepsy
ADHD
Microcephaly
Wide mouth with widely spaced teeth
Describe the genetic basis of William syndrome
Deletion on one copy of chromosome 7 - usually a random deletion
List the features of William syndrome and associated conditions
Broad forehead
Starburst eyes
Flattened nasal bridge
Long philtrum
Wide mouth with widely spaced teeth
Small chin
Sociable personality
Mild learning disability
Associated conditions:
Supravalvular aortic stenosis
ADHD
Hypertension
Hypercalcaemia
Describe the normal postnatal care of a baby
Immediately post-birth:
Skin-to-skin
Clamp cord - delayed clamping
Dry baby
Keep warm with hat and blanket
IM vitamin K - prevent bleeding
Initiate feeding (breast or bottle) as soon as baby is alert enough
Wait for first bath >24 hours
Newborn examination within 72 hours then at 6-8 weeks
Blood spot test
Newborn hearing test
What does the newborn blood spot screen test for?
When are the results available?
Sickle cell disease
Cystic fibrosis
Congenital hypothyroidism
Phenylketonuria
Medium-chain acyl-coA dehydrogenase deficiency (MCADD)
Maple syrup urine disease
Isovaleric acidaemia
Glutaric aciduria type 1
Homocystin
Results take 6-8 weeks
Describe routine antenatal screening
Booking visit - take history and determine risk factors, check rhesus D status
11+2 weeks - 14+1 weeks - US scan for gestational age, screen for Down’s, Edward’s and Patau’s syndrome (combined test)
18 - 20+6 weeks - fetal anomaly US scan (anencephaly, spina bifida, cleft lip, diaphragmatic hernia, gastroschisis, exomphalos, congenital heart disease, renal agenesis, lethal skeletal dysplasia)
Quadruple test - second trimester, screen for Down’s
NIPT - high risk result from combined or quadruple test
Diagnostic testing (CVS, amniocentesis) if higher chance screening results
Describe the normal gross motor developmental milestones
Starts from head and moves downwards:
4 months - support head, keep it in line with body
6 months - sit up (support trunk on pelvis), don’t have balance to stay sitting up unsupported
9 months - sit unsupported, start crawling, can maintain a standing position and bounce on legs when supported
12 months - stand and cruise (walk while holding onto furniture)
15 months - walk unaided
18 months - squat and pick things up from floor
2 years - run, kick ball
3 years - climb stairs one foot at a time, stand on one leg for a few seconds, ride a tricycle
4 years - hop, climb and descend stairs like an adult
Describe the normal fine motor developmental milstones
Early milestones:
8 weeks - fixes eyes on object 30cm away and attempts to follow it, shows preference for face rather than inanimate object
6 months - palmar grasp of objects (wrap thumb and fingers around)
9 months - scissor grasp (squasher between thumb and forefinger)
12 months - pincer grip (holds with tip of thumb and forefinger)
14-18 months - can use spoon to bring food from bowl to mouth
Drawing:
12 months - hold crayon and scribble
2 years - copies vertical lines
2.5 years - copies horizontal lines
3 years - copies circles
4 years - copies cross and square
5 years - copies triangle
Tower of bricks:
14 months - 2 bricks
18 months - 4 bricks
2 years - 8 bricks
2.5 years - 12 bricks
3 years - 3 block bridge or train
4 years - can build steps
Pencil grasp
<2 years - palmar supinate grasp (fist grip)
2-3 years - digital pronate grasp
3-4 years - quadrupod grasp or static tripod grasp
5 years - mature tripod grasp
Others:
3 years - can thread large beads onto string, can make cuts in side of paper with scissors
4 years - can cut paper in half using scissors
Describe the normal language developmental milestones
Expressive and receptive
Expressive:
3 months - cooing
6 months - noises with consonants (starting with g, b, and p)
9 months - babbles, sounds like talking but no recognisable words
12 months - single words in context
18 months - 5-10 words
2 years - combines two words, >50 total
2.5 years - combines 3-4 words
3 years - basic sentences
4 years - tells stories
Receptive:
3 months - recognises familiar voices and gets comfort from them
6 months - responds to tone of voice
9 months - listens to speech
12 months - follows simple instructions
18 months - understands nouns e.g. show me the spoon
2 years - understands verbs e.g. show me what you eat with
2.5 years - understands propositions e.g. put the spoon under the step
3 years - understands adjectives e.g. show me the one which is bigger
4 years - follows complex instructions
List the personal and social development milestones
6 weeks - smiles
3 months - communicates pleasure
6 months - curious and engaged with people
12 months - engages with others by pointing and handing objects, waves bye bye, claps hands
18 months - imitates activities e.g. using a phone
2 years - extends interest to others beyond parents e.g. waving to strangers, plays next to but not necessarily with other children, usually dry by day
3 years - seek out other children and play with them, bowel control
4 years - has best friend, dry by night, dresses self, imaginative play
List red flags for developmental delay
Loss of developmental milestones
Not smiling by 10 weeks
Not being able to hold an object at 5 months
Not sitting unsupported 12 months
Not walking by 18 months
Showing hand preference before 12 months
Not knowing 2-6 words by 18 months
Not running at 2.5 years
No interest in others at 18 months
Define developmental delay and global developmental delay
Developmental delay - delay in any of the four developmental areas (gross motor, fine motor, speech and language, social and emotional)
Global delay - delay in two or more of the above areas simultaneously
List causes of developmental delay
Neurological
Congenital - antenatal vascular event, spina bifida
Acquired - hypoxic ischaemic encephalopathy, intraventricular haemorrhage, prolonged hypoglycaemia, traumatic brain injury, stroke, epilepsy
Infection
Congenital - TORCH (toxoplasmosis, rubella, CMV, HSV, HIV)
Meningitis
Encephalitis
Neuromuscular disorders
Duchenne muscular dystrophy
Spinal muscular atrophy
Hypothyroidism
Genetic disorders e.g. Down syndrome
Pervasive developmental disorders e.g. Autism
Metabolic disorders
Hurle syndrome
Krabbe’s disease
PKU
Prematurity
Idiopathic
How is developmental delay assessed?
Developmental assessment - what can they do/not do and how appropriate is this for their age?
Standardised developmental assessments e.g. Griffiths scale of child development of the schedule of growing skills
Investigations:
FBC and haematinics - iron deficiency, folate/B12 deficiency
U&Es - renal failure, hyponatraemia
CK - Duchenne
TFTs - congenital hypothyroidism
LFTs - metabolic disorders
Vitamin D
Hearing test - isolate speech and language delay
Second-line investigations e.g. karyotyping, metabolic screens, MRI, EEG
Describe the UK vaccination schedule from birth
Before/after pregnancy: MMR vaccine (if haven’t already had)
During pregnancy:
Pertussis
2 months:
6-in-1 - diphtheria, tetanus, pertussis, polio, haemophilus influenzae type B, hepatitis B
MenB
Rotavirus
3 months:
6-in-1
Rotavirus
Pneumococcal
4 months:
6-in-1
MenB
Within a month of first birthday:
Hib/menC
MenB
MMR
Pneumococcal
2-11 years
Flu annually
3 years 4 months
6-in-1
11-13 years - HPV
14 years
Tetanus, diphtheria and polio
MenACWY
List the non-routine vaccinations given to babies, their indications and the when they are given
BCG - at birth, born in area with high rates of TB, live with someone with TB, parents or grandparents from somewhere with high rates of TB
Additional doses of hepatitis B - mother with hep B, at birth, 4 weeks and 12 months
Influenza - 6 months to 17 years with chronic health conditions
List the non-routine vaccinations given to babies, their indications and the when they are given
BCG - at birth, born in area with high rates of TB, live with someone with TB, parents or grandparents from somewhere with high rates of TB
Additional doses of hepatitis B - mother with hep B, at birth, 4 weeks and 12 weeks
Influenza - 6 months to 2 years old annually, chronic health condition, injection not nasal
Which vaccines are live attenuated? What are the contraindications to these vaccines in children?
MMR
BCG
Chickenpox
Nasal influenza
Rotavirus
Contraindicated if:
Receiving high dose steroids
Receiving immunosuppressive treatment
Immunosuppressed
Malignancy
Acutely unwell with systemic upset
List key features in a history which raise suspicion of non-accidental injury
Mechanism of injury not compatible with injury sustained
Developmental stage of child not consistent with injury sustained (e.g. non-mobile)
Sustained significant injury with little or no explanation
Inconsistent history
Delayed presentation
Recurrent injuries
Parents reaction not appropriate to situation - too concerned, aggressive, elusive
List the injuries which are suspicious of non-accidental injury and the features of these
Burns and scalds:
In locations which would not be expected to come into contact with a hot object - soles of feet, buttocks/back, backs of hands
Bilateral, symmetrical
Shape of burn e.g. circular for cigarette, sharply delineated borders
Bruises:
Non-mobile child
Shape of bruise - hand, ligature
On non-bony parts or face/ears
Multiple bruises, clustered bruises
Bites:
Human appearance
Animal - neglect
Lacerations/abrasions:
Non-mobile child
Symetrical
Around face, ankles, wrist
Fractures:
<18 months old
Fractures of different ages (especially if no record of seeking medical attention for previous)
Metaphyseal corner fractures
Occult rib fractures
Spiral fractures
Humeral fractures
Intracranial injuries:
Shaken baby syndrome
Subconjunctival/retinal haemorrhage
Multiple subdural haemorrhages
Hypoxic encephalopathy
Without adequate explanation
Other:
Spinal injuries
What is the differential diagnosis for suspected non-accidental injury?
Bruising:
Coagulopathy
Birth marks
Vasculitic disorders
Infection - meningococcal septicaemia, HSP
Drug-related - NSAIDs
Erythema nodosum
Malignancy
Fractures:
Birth injury - clavicular
Infection - osteomyelitis
Malignancy
Osteogenesis imperfecta
Nutritional - vit D deficiency, copper deficiency
How should suspected non-accidental injury be investigated?
Skeletal survey - head/chest, spine/pelvis, upper limbs, lower limbs
Repeat at 11-14 days
CT head if acute, MRI if non-acute
FBC
Coagulation screen
Bone biochemistry
List risk factors for non-accidental injury
History of intimate partner violence and abuse - before/during/after pregnancy
Substance abuse/mental health conditions in caregivers
Excessive crying - shaking
Unintended pregnancy
Developmental problems
How does neglect present in children?
Medical:
Unvaccinated
Failure to attend appointments
Poor compliance with medication
Failure to seek appropriate, timely medical advice
Nutritional:
Faltering growth
Obesity
Emotional:
Delayed development
Poor sleep
Persistent crying
Irritable
Apathetic
Difficult/violent behaviour
Antisocial behaviour
Academic failure
Depression, self harm
Substance abuse
Physical:
Inadequate hygiene
Severe and/or persistent infestations/infections
Inappropriate clothing for size and weather
Failure to supervise:
Frequent A&E attendances
Injuries that suggest lack of care - burns, falls
Ingestion of harmful substances
Define cerebral palsy
Umbrella term for non-progressive, permanent neurological disorders affecting normal movement and posture
Describe the aetiology of cerebral palsy
Acquired pathology within the developing brain during the prenatal, neonatal or early infant period
Impaired movement due to centrally-mediated abnormal muscle tone which most commonly leads to spasticity
Prenatal:
Maternal infections - toxoplasmosis, rubella, CMV, HSV
Trauma during pregnancy
Congenital brain malformation
Intrapartum:
Birth asphyxia
Pre-term birth
Intraventricular haemorrage
Hypoxic-ischaemic brain injury
Neonatal:
Meningitis
Severe neonatal jaundice
Head injury
List the types and patterns of cerebral palsy
Spastic - hypertonia and reduced function to damaged upper motor neurones
Dyskinetic - hypertonia and hypotonia, problems controlling tone causing athetoid movements and oro-motor problems, due to damage to basal ganglia
Ataxia - cerebellar damage
Mixed - spastic, dyskinetic and/or ataxic features
Patterns:
Monoplegia - one limb affected
Hemiplegia - one side of body affected
Diplegia - four limbs affected but mostly legs
Quadriplegia - four limbs affected more severely, associated with seizures, speech disturbance etc.
Describe the clinical presentation of cerebral palsy
Usually presents with delayed motor milestones:
Not sitting by 8 months
Not walking by 18 months
Hand preference before 12 months
Tone abnormalities
Abnormal movements - asymmetrical, fidgeting, lack of movement
Feeding difficulties - choking, dysphagia
Persistent toe walking
Problems with coordination, speech or walking
Learning difficulties
Gait abnormalities - hemiplegic or diplegic, plantar flexion
Upper motor neurone signs - increased tone, brisk reflexes, reduced/normal power
Non-progressive - no loss of milestones
List the complications/conditions associated with cerebral palsy
Learning difficulties
Epilepsy
Kyphoscoliosis
Muscle contractures
Hearing and visual impairment
GORD
Problems with feeding and aspiration
Osteopaenia and osteoporosis - especially if non-mobile
How is cerebral palsy diagnosed?
Clinical diagnosed
MRI can be used, shows - white matter, deep grey matter and basal ganglia matter
Imaging only used to exclude other diagnoses
How is cerebral palsy managed?
MDT approach
Conservative:
Physiotherapy
Occupational therapy
Speech and language therapy
Dietician
Medical management - symptom management:
Hyoscine hydrobromide or glycopyrronium bromide - excess drooling
Diazepam - pain
Baclofen - hypertonia
Botulinum toxin type A injections - spasticity
Anti-epileptics
Surgery:
Hip displacement common
Tenotomy to release contractures
Define epilepsy and seizures
Epilepsy - neurological disorder in which person experiences recurring seizures, tendency to have seizures
At least 2 unprovoked seizures occurring >24 hours apart
One unprovoked seizure and a probability of further seizures similar to the general recurrence risk after two unprovoked seizures (>75%)
At least two seizures in a setting of reflex epilepsy
Seizure - transient episode of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain
Define febrile seizure
Seizure associated with febrile illness not caused by an infection of the CNS, without previous neonatal seizures or a previous unprovoked seizure and not meeting the criteria for other acute symptomatic seizure, occurring in children aged 6 months to 6 years
List types of seizures and describe the nature of each
Generalised tonic-clonic - loss of consciousness, tonic (tensing) and clonic (spasming) movements, typically tonic then clonic, associated with tongue biting, incontinence, groaning and irregular breathing, post-ictal period
Focal - affect hearing, speech, memory and emotions, e.g. hallucinations, memory flashbacks, deja vu
Absence - typically affects children, go blank and stare into space then abruptly return to normal
Atonic seizures - drop attacks, brief lapses in muscle tone, last <3 minutes, begin in childhood, may indicate Lannox-Gastaut syndrome
Myoclonic seizures - sudden brief muscle contractions, usually remain conscious, typically in children as part of juvenile myoclonic epilepsy
Infantile spasms (West syndrome) - rare, starts at 6 months old, clusters of full body spasms, poor prognosis
Febrile convulsions - seizures during fever, no underlying pathology, 6 months - 6 years
List the types of seizures most common in children, their incidence, age of onset, features and prognosis
Febrile convulsion:
3% of children in the UK
Age 6 months to 5 years
Fever >38, usually in first day of fever
Tonic-clonic seizure - eye rolling, tongue biting, incontinence
Symptoms of infection
Simple or complex seizures - <15 minutes or >15 minutes, prolonged post-ictal state
>30 minutes - febrile status epilepticus
Recurrent seizure in 30%
3% will progress to having epilepsy (more if complex)
Infantile spasms (West syndrome):
Rare (1 in 4000)
Starts at 6 months old
Clusters of full body spasms
Poor prognosis - 1/3 mortality by age 25, 1/3 seizure free
Juvenile myoclonic epilepsy:
Age 12-18
Myoclonic or tonic-clonic seizures, brief absence seizures
Often during/after waking
40% photosensitive
Often don’t outgrow, good prognosis with treatment
Childhood absence epilepsy:
Age 4-10
Frequent absence seizures (100 per day), very brief
90% grow out of seizures
Lennox Gastaut syndrome:
Age 3-5
Tonic, atonic and atypical absence seizures
Associated with learning difficulties
Difficult to treat, often continue into adult life
Describe the management of epilepsy
Acute seizure management:
A-E
Anti-convulsants - IV lorazepam, buccal midazolam, rectal diazepam
Febrile seizures of <5 minutes don’t need treatment
General safety precautions - showers rather than baths, caution swimming, driving
Long-term medical management - anti-epileptic drugs
Explanation of prognosis to parents and child
How should a first seizure in a child be assessed/investigated?
Good history of episode - having a video of the episode is most helpful
EEG - once confirmed seizure can be used to characterise seizure type and epilepsy syndrome
MRI - not indicated in absence or juvenile myoclonic epilepsy
Genetic testing? - if aetiology can’t be explained, after counselling family
What is the differential diagnosis for an epileptic seizure in a child?
CNS infection e.g. meningitis, encephalitis
Syncope
Head injury
Rigors
Post-ictal fever
Inborn errors of metabolism
Electrolyte disturbance
Hypoglycaemia
Behavioural
Migraine
Breath-holding spells
What is a breath-holding spell? List types and management.
Involuntary episodes during which child holds their breath
Cyanotic - when crying, stop breathing, become cyanotic and lose consciousness. Regain consciousness within a minute, can be tired and lethargic after.
Reflex anoxic seizures - when child is startled, vagus nerve sends signal to heart to stop it beating, child goes pale, loses consciousness, may have myoclonic jerking, within 30 seconds heart restarts and child regains consciousness.
Management:
Exclude other pathology
Educate and reassure parents - likely to outgrow by age 4-5
Treat iron deficiency anaemia
Define brachy- and plagiocephaly
Common conditions that cause abnormal head shapes in otherwise healthy babies
Plagiocephaly - flattening of head on one side, causing asymmetry
Brachycephaly - back of head flattened, causing shortening of the head in the sagittal plane
More common as advised to place babies on their back to sleep to reduce risk of SIDs
How is plagiocephaly/brachycephaly managed?
Exclude other conditions e.g. craniosynotosis, congenital muscular torticollis
Reassurance
Simple measures to avoid resting on flattened area - lay on round side for sleep, supervised tummy time, helmets
List causes global developmental delay
Down’s syndrome
Fragile X syndrome
Fetal alcohol syndrome
Rett syndrome
Metabolic disorders - inborn errors of metabolism
List causes of gross motor delay
Cerebral palsy
Ataxia
Myopathy
Spina bifida
Visual impairment
List causes of fine motor delay
Dyspraxia
Cerebral palsy
Muscular dystrophy
Visual impairment
Congenital ataxia
List causes of speech and language delay
Social circumstances e.g. exposure to multiple languages
Hearing impairment
Learning disability
Neglect
Autism
Cerebral palsy
List causes of personal and social delay
Emotional and social neglect
Parenting issues
Autism
List neurodegenerative causes of developmental delay and describe their features
Subacute sclerosing panencephalitis - progressive brain inflammation caused by infection with measles virus, primary infection then average of 7 year asymptomatic period then degeneration with behaviour change, seizures, blindness, ataxia then death
Neuronal ceroid lipofuscinosis - family of neurodegenerative lysosomal storage disorders, most are autosomal recessive, vision loss is first symptom, then seizures, psychological degeneration
West disease - infantile spasms
Tuberous sclerosis - autosomal dominant, growth of non-cancerous tumours (hamartias/hamartomas) in brain and on other organs e.g. kidneys, heart, liver, lungs, eyes, causes seizures, intellectual disability etc.
Werdnig-Hoffman disease (spinal muscular atrophy) - motor neurone disease with anterior horn degeneration, progressive weakness of voluntary muscles, arm, leg and respiratory muscles affected first
Hereditary spastic paraplegia - progressive spasticity, upper motor neurone signs
List metabolic causes of developmental delay and describe their features
Most picked up on newborn blood spot test
Phenylketonuria - autosomal recessive, defect in phenylalanine hydroxylase, which converts phenylalanine to tyrosine, presents at 6 months with developmental delay, seizures, ‘musty’ odour to sweat and urine
Maple syrup urine disease - autosomal recessive, symptoms within 24-48 hours, poor feeding, lethargy, then focal neurological signs, sweet-smelling urine and ear wax
G6PDD - X-linked recessive, prolonged neonatal jaundice, haemolytic crises (triggers e.g. fava beans)
Galactosaemia - autosomal recessive, impaired galactose metabolism, symptoms within first few days of life, poor feeding, weight gain, vomiting, diarrhoea, hepatocellular damage, lethargy, hypertonia
Describe the genetic basis of muscular dystrophy
X-linked recessive - DMD gene which codes for dystrophin protein
Duchenne muscular dystrophy - mostly out-of-frame deletions, more severe
Becker muscular dystrophy - mostly in-frame deletions, more mild
Describe the clinical presentation of muscular dystrophy
Symptoms:
Progressive weakness - starting proximally and moving distally, lower limbs affected before upper limbs
Delayed motor milestones - typically ability to walk independently
Waddling gait, clumsy, fall over
Faltering growth
Fatigue
Intellectual impairment e.g. delayed speech milestones
Behavioural issues - ADHD, autism, OCD
Leg pain
Clinical features not apparent until >2 years old
Signs:
Weakness - proximal and distal leg muscles
Calf pseudohypertrophy - accumulation of fat and connective tissue replacing muscle
Waddling gait - worse when running
Gower’s sign - climbs up legs when rising from floor
Hyporeflexia or areflexia
Pes planus
Difficulty or inability to squat
Describe the clinical course and prognosis of Duchenne muscular dystrophy
Symptoms become evident at age 2
Usually wheelchair users by age 12
Death usually in second or third decade of life due to cardiac or pulmonary complications
How is muscular dystrophy diagnosed?
Serum creatinine kinase - screening tool on first presentation (not reliable for those who are already wheelchair users)
Definitive diagnosis:
Genetic analysis - identify DMD gene mutations
Muscle biopsy - analysis of dystrophin protein
Other investigations:
Electromyography
ECG and echo - cardiomyopathy
Lung function testing - restrictive lung disease
How is Duchenne muscular dystrophy managed?
No curative management - aim to preserve quality of life for as long as possible
MDT input
Early management:
Corticosteroids - prolong ability to walk by 6-24 months, slow progression of respiratory impairment and cardiomyopathy
Vitamin D and calcium supplements - enhance bone health
Creatinine supplementation
Physiotherapy - prevent development of contractures
Orthoses - stabilise knee, ankle and foot, prolong ability to walk
Later management:
Wheelchair
Orthopaedic input - orthotics and surgery for contractures/scoliosis
Cardiac and respiratory surveillance
Advanced planning and palliative care
Counselling
List the types of muscular dystrophy (other than Duchenne’s), their features and prognosis
Becker’s - similar to Duchenne’s but less severe, symptoms appear at 8-12 years, wheelchair required 20-30, life expectancy 40-50, dilated cardiomyopathy
Myotonic dystrophy - presents in adulthood, progressive muscle weakness, prolonged muscle contractions, cataracts, cardiac arrhythmias
Fascioscapulohumeral - presents in childhood with weakness around face, progressing to shoulders and arms
Oculopharyngeal - presents in late adulthood with weakness of ocular muscles and pharynx, ptosis, resctricted eye movement, swallowing issues
Limb-girdle - teenage years, progressive weakness around hips and shoulders
Emery-Dreifuss - childhood, contractures, most commonly in elbows and ankles, progressive weakness and wasting of muscles, starting with upper arms and lower legs
Describe the normal pattern of growth in childhood
Term newborns typically lose 5-8% of their birth weight during the first few days of life but regain it by the end of the first two weeks
Rapid growth from birth to age 1/2
Slower growth from 2 - adolescent growth spurt
Can have erratic eating patterns, eat little one day then make up for it by eating more the next day
Steady growth throughout preschool and school, tend to grow the same amount each year until major growth spurt
By age 3 muscle tone increases and body fat decreases, so look more lean and muscular than babies
Pubertal growth spurt due to interaction between gonadal sex steroids (oestradiol/testosterone), GH and insulin-like growth factor 1
How is growth monitored in children?
Measure weight and length during first year of life at every doctor’s visit to make sure growth is proceeding at a steady state
Head circumference also routinely measured until 3 years old
Measure length in children too young to stand then height in children who can stand
WHO growth charts for 0-4 and 2-18 years, plot measurements on chart, compares to other children of the same age and sex, describes optimal growth for healthy, breastfed children
Single point on chart not that useful, plot the change over time
If in 50th percentile - mean age of children of that height in the normal population
Describe normal puberty in females
Normally begins between ages of 8-14
Controlled by hypothalamic-pituitary-ovarian axis, hypothalamus released gonadotropin releasing hormone which stimulates release of FSH and LH from anterior pituitary
FSH and LH act on the ovaries to stimulate synthesis and release of oestrogen and progesterone and oogenesis
First sign is beginning of breast development (thelarche), occurs around 9-10, breast buds appear as small mounds with breast and papillae elevated, continue to increase in size following menarche due to increased fat deposition
Pubarche is next sign - growth of hair in the pubic area, initially sparse, light and straight, becomes coarser, thicker and darker
2 years after pubarche hair begins to grow in the axillary area
Menarche - usually occurs around 1.5-3 years after thelarche (12.8 areas in Caucasian girls and 4-8 months later in African-American girls), due to increases in FSH and LH
Describe normal puberty in males
Normally begins at 10-16
GnRH released from hypothalamus, stimulates release of FSH and LH from anterior pituitary
FSH and LH act on testicles to stimulate synthesis and release of testosterone
Stimulates onset of sperm production
First sign is increase in testicular size
Increased LH stimulates testosterone synthesis by Leydig cells and increased FSH stimulate sperm production by Sertoli cells
Scrotal skin also grows and becomes thinner, darker in colour and starts to hang down from the body, becomes spotted with hair follicles
Approximately a year after testicles start to grow, boys can experience their first ejaculation, indicates theoretical capability of procreation, on average reach fertility one year after ejaculation
Growth of penis after testicular enlargement - grows in length then width
Pubarche - growth of pubic hair at base of penis, start as light, straight and thin, then become darker, curlier and thicker
Approximately 2 years later, hair grows on legs, arms, axillae, chest and face
Following peak of growth spurt - larynx and vocal cord enlarge, voice deepens
Describe the physiological influences on normal growth and development in childhood
Infancy - mainly dependent on nutrition, largely growth hormone and thyroxine independent
Childhood - growth hormone/IGF-1 axis, as well as thyroid hormone, insulin, nutrition
Growth spurt during puberty dictated by interaction between gonadal sex steroids (oestradiol/testosterone), growth hormone, insulin-like growth factor I
Also role of adrenal androgens, thyroid hormones, leptin and nutrition
List abnormalities of pubertal development
Precocious puberty - before 8 in girls and 9 in boys (2 - 2 and a half standard deviations from the mean)
Late-onset puberty - no physical changes (breast/testicular development) before the age of 14
Describe the types of precocious puberty and causes of each
True precocious puberty - due to early activation of the HPG axis
Causes:
Central malformation or damage e.g. hydrocephalus, neurofibromatosis
Acquired - post-sepsis, surgery, radiotherapy, trauma, birth anoxia
Brain tumours
False precocious puberty - gonadotrophin independent, usually presents with isolated development of one pubertal characteristic
Causes:
Increased adrenal activity - congenital adrenal hyperplasia
Exogenous sex steroids
Gonadal tumour - ovarian/testicular tumours
Hypothyroidism
McCune Albright syndrome - polyostotic fibrous dysplasia
How is pubertal stage determined?
Tanner staging
Prader orchidometer
List consequences of early puberty
Short stature - loss of 2-3 years of typical growth hormone-dependent growth (20cm in females, 30cm in males)
Psychological disturbance
Early menarche - ill-equipped to manage at young age
Safeguarding concerns
List causes of delayed puberty in both sexes
Maturational delay - commonly runs in families
Gonadal failure - hypergonadotropic hypogonadism (high LH and FSH)
XXY, XO, XY/XO variants - Turner’s/Klinefelter’s
Abnormal gonadal development - genetic
Damage to gonads e.g. testicular torsion, cancer, infections
Hypothalamic pituitary dysfunction - hypogonadotropic hypogonadism (low FSH and LH)
Damage to hypothalamus or pituitary e.g. infection, surgery, radiotherapy
Genetic e.g. Kallmann syndrome
Chronic conditions e.g. IBD, cystic fibrosis
Hyperprolactinaemia
Metabolic - glycogen storage disorders, galactosaemia
List causes of delayed puberty only seen in girls
Turner’s syndrome
Anorexia nervosa
Low body weight/athletic lifestyle
Autoimmune failure - premature ovarian failure
Define failure to thrive and faltering growth
Failure to thrive = poor physical growth and development in a child
Faltering growth = fall in weight across
One or more centile spaces if birthweight below 9th centile
Two or more centile spaces if birthweight between 9th and 91st centile
Three or more centile spaces if birthweight above 91st centile
List causes of failure to thrive
Inadequate nutritional intake
Difficulty feeding - cerebral palsy, cleft lip/palate, pyloric stenosis
Malabsorption - cystic fibrosis, coeliac disease, Cow’s milk intolerance, chronic diarrhoea, IBD
Increased energy requirements - hyperthyroidism, chronic disease, malignancy, chronic infections
Inability to process nutrients properly - inborn errors of metabolism, type 1 diabetes
How can a child’s height be predicted?
Boys: (mother height + fathers height + 14cm) / 2
Girls: (mothers height + father height – 14cm) / 2
Describe the aetiology of congenital adrenal hyperplasia
Group of autosomal recessive disorders characterised by impaired cortisol synthesis
90% due to congenital deficiency of 21-hydroxylase enzyme
21-hydroxylase converts progesterone into aldosterone and cortisol
Results in low cortisol, low aldosterone, high ACTH, high testosterone
How does congenital adrenal hyperplasia present?
Due to mineralocorticoid deficiency (aldosterone):
Hyponatraemia, hyperkalaemia, hypoglycaemia, which cause symptoms of:
Poor feeding
Vomiting
Dehydration
Arrhythmias
Hypotension
Weight loss
(more severe form)
Due to androgen excess (testosterone):
If severe present at birth with virilised (ambiguous) genitalia, enlarged clitoris
If more mild:
Female - tall, facial hair, absent periods, deep voice, early puberty
Male - tall, deep voice, large penis, small testicles, early puberty
Due to ACTH excess:
Skin hyperpigmentation
How is congenital adrenal hyperplasia diagnosed and managed?
ACTH stimulating testing confirms diagnosis
Management:
Acute - fluid resuscitation, IM hydrocortisone
Cortisol replacement - hydrocortisone
Aldosterone replacement - fludrocortisone
Corrective genital surgery if required
What is the differential diagnosis of congenital adrenal hyperplasia?
Congenital adrenal hypoplasia - genetic or metabolic causes, presents at birth with disorders of sexual development, hyponatraemia, hyperkalaemia, hypotension
Familial glucocorticoid deficiency - hypoglycaemia, hypotension, electrolyte disturbance
Selective mineralocorticoid deficiency - hyponatraemia, hyperkalaemia, hypotension
Addison’s disease - insidious onset weakness, hyperpigmentation, fatigue, dizziness, salt craving
Autoimmune polyglandular syndromes 1/2/4 - other autoimmune conditions involved e.g. hypoparathyroidism, diabetes, vitiligo, coeliac disease
Secondary causes - steroid withdrawal after prolonged use, hypopituitarism, catastrophic infection or severe illness leading to adrenal necrosis (Waterhouse-Friderichsen syndrome)
List causes of multiple pituitary insufficiency
Congenital - familial (10%) or sporadic
Acquired - tumour, surgery, trauma (including birth trauma), irradiation, infection, autoimmune, hydrocephalus
Idiopathic
How does multiple pituitary insufficiency present in children?
Most commonly deficient in FSH/LH and GH
Newborn:
Abnormal genitalia - small penis
Hypoglycaemia
Prolonged jaundice
Poor feeding
Excessive urination
Infants/older children
Abnormal growth/short stature
Excessive thirst and urination
Poor appetite
Nausea
Dizziness
Obesity
Adolescents:
Delayed puberty
Oligomenorrhoea/amenorrhoea
How is multiple pituitary insufficiency managed?
Replace hormones which are deficient
Treat underlying cause e.g. infection, tumour
How are children defined as overweight or obese?
Using BMI plotted on WHO/RCPCH growth charts appropriate for age and sex
Overweight - BMI >85th centile
Obese - BMI >95th centile
List causes of childhood obesity
Imbalance between energy intake and expenditure - unhealthy diet, sedentary lifestyle (MOST COMMON CAUSE)
Genetic, socio-economic, family and psychological influences important
Pathological causes (much more rare)
Hypothyroidism
Cushing’s disease
Medication e.g. steroids, antidepressants, anti-epileptics
Genetic syndromes - Prader-Willi syndrome
What are the potential complications of childhood obesity?
Social/psychological - bullying, depression, eating disorders, poor academic performance
Obesity in adulthood
Sleep apnoea
T2DM
Asthma
NAFLD
CVD
Hypertension
Stroke
Menstrual abnormalities
Orthopaedic complications e.g. arthritis
No long term ill-effects if achieve and maintain normal weight during childhood
What is the average birth weight?
3.3-3.5kg
Define diabetes mellitus
Metabolic disorder characterised by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion (insulin deficiency), insulin action (insulin resistance) or both
Define type 1 diabetes and describe its aetiology
Autoimmune pancreatic beta cell destruction leading to absolute insulin deficiency and persistent hyperglycaemia
Primarily emerges in childhood, most common form of DM in <16s
Aetiology not entirely clear, genetic component (HLA DR3/4, DQB) with possible environmental trigger - viral e.g. Coxsackie B virus, enterovirus, which leads to T-cell mediated beta cell destruction
How does type 1 diabetes present in a child?
25-50% present in DKA - generally unwell, lethargy, nausea, vomiting, abdominal pain, headache, irritability, can progress to confusion, collapse, may also have symptoms of concurrent infection
Symptoms of hyperglycaemia (with or without DKA, usually start 1-6 weeks before DKA):
Polyuria - can present as secondary enuresis
Polydipsia
Weight loss
Other features:
Recurrent infections
Excessive tiredness
Family history of diabetes/autoimmune disease
How is type 1 diabetes diagnosed?
Fasting plasma glucose more than or equal to 7
Random plasma glucose more than or equal to 11.1
Single random plasma glucose + symptoms usually sufficient to diagnose
Other investigations:
FBC, U&Es, laboratory glucose
Blood cultures if suspected infection
HbA1c
TFTs and TPO for associated autoimmune thyroid disease
anti-TTG for associated coeliac disease
Antibodies for type 1 DM - insulin antibodies, anti-GAD antibodies, islet cell antibodies
How is type 1 diabetes managed in a child?
Education
Lifestyle advice
Immunisations - influenza, pneumococcal
Self-monitoring of blood glucose (real-time continuous or scanned continuous should be offered) and insulin therapy
Target HbA1c 48 or lower, fasting glucose 4-7, after meal glucose 5-9
Sick day rules - don’t omit insulin, check blood glucose more frequently, check blood ketones regularly, maintain normal meal pattern and adequate hydration
Monitoring for complications:
Monitor growth by measuring height and weight and plotting on an appropriate growth chart
Regular dental examinations (every 3-6 months)
Eye examination every 2 years until 12, then annual diabetes eye screening
Feet assessed for diabetic foot problems
Annual monitoring for diabetic kidney disease (>12), hypertension (>12) and thyroid disease
Screen for psychological and social problems - anxiety, depression eating disorders
Define hypoglycaemia
Blood glucose levels <3.5mmol/L +/- symptoms of hypoglycaemia
Describe the symptoms of hypoglycaemia
Mild - dizziness, hunger, irritability, anxiety, sweating, palpitations, headache, confusion
Moderate - weakness, lethargy, impaired vision, confusion, irrational behaviour
Severe - seizures, loss of consciousness, coma
How is hypoglycaemia managed?
Mild - conscious, orientated, able to swallow
15-20g quick acting CHO - dextrose tabs, glucotabs, glucojuice, pure fruit juice
Retest in 10-15 minutes, if <4 repeat for up to 3 cycles
Moderate - conscious and able to swallow but confused, disorientated or aggressive
If co-operative treat as for mild
If uncooperative squeeze glucose gel into mouth
If ineffective give 1mg IM glucagon (once only)
Retest in 10-15 minutes, if <4 repeat for up to 3 cycles
Severe - unconscious, very aggressive or NBM
ABC assessment
Stop any IV insulin
Give IV glucose
Or give IM glucagon (once only)
Retest in 10 minutes, if <4 repeat
Once >4 give 20g long acting CHO, continue regular BM monitoring
How can hypoglycaemia episodes be prevented?
Consider lifestyle factors - eating, alcohol, exercise
Consider injection technique, injections site problems
Reduce insulin dose - 10-20%
Define DKA
Acidosis - blood pH <7.3 or plasma bicarbonate <15mmol/L
Ketonaemia - blood ketones >3
Hyperglycaemia (usually but not always) >11 mmol/L
How does DKA present?
Laboured breathing
Kussmaul breathing - deep, sighing
Nausea/vomiting
Abdominal pain
Dehydration - sunken eyes, skin turgor reduced
CRT >2 seconds
Cool peripheries
Tachycardia
Tachypnoea
Hypotension
Ketotic breath
Abdominal tenderness
Cerebral oedema - headache, irritability, confusion, reduced consciousness, increased ICP (bradycardia, hypotension, papilloedema)
Symptoms of underlying illness - infection
More long-term symptoms of diabetes - polydipsia, polyuria, weight loss
How is DKA managed in children?
Much higher risk of cerebral oedema - cautious approach to fluid resuscitation
ABC assessment
Consider intubation if reduced consciousness
High-flow oxygen
If signs of shock restoring circulating volume is more important
Fluid:
If in shock - initial bolus of 20ml/kg 0.9% NaCl over 15 minutes then up to 40ml/kg
If not in shock - initial bolus 10ml/kg over 1 hour then calculate deficit based on % dehydration from severity score + maintenance
Monitor potassium and add to fluids as needed (+ ECG)
Insulin:
Delay IV insulin for 1-2 hours after initial IV fluid therapy to reduce cerebral oedema
0.05-0.01 units/kg/hour of soluble insulin
Continue regular long acting SC insulin
Ongoing management:
Strict fluid balance monitoring
Monitor BP and GCS
Repeat blood glucose, ketones, blood gas and U&Es
Oral fluid resumed once ketosis resolving and no nausea/vomiting
Transition from IV to SC insulin once child well, drinking and eating and ketones <1 or pH normal
Liaise with diabetic team to prevent future episodes
What are the potential complications of DKA in children? How is the risk of these reduced and how are they managed if they do occur?
Cerebral oedema - occurs in children/adolescents but not adults, high mortality/morbidity, require regular neurological status examination , symptoms usually occur 4-12 hours after treatment started
Rehydrate slowly with isotonic fluids
Management - exclude hypo, restrict fluid, mannitol, ventilate, CT
Hypokalaemia - risk of life-threatening arrhythmias, monitor K+ and ECG, give K+ if needed
Aspiration pneumonia - reduced conscious, insert NG to reduce
Hypoglycaemia - include glucose in rehydration fluids as soon as BM <14
How does type 2 diabetes present in children?
Typical symptoms of hyperglycaemia - polydipsia, polyuria, fatigue, weight loss (less common), frequent infections, blurred vision
More insidious onset of symptoms - weeks-months
Behavioural problems - reduced school performance
Impaired growth
Strong FHx
Obesity
From Black/Asian background
Do not need insulin or need less than 0.5 units/kg/day after partial remission
Evidence of insulin resistance - acanthosis nigricans
How is type 2 diabetes managed in children?
Exercise and weight loss
Metformin - from diagnosis
Target HbA1c <48
Monitor for hypertension, dyslipidaemia, CKD, retinopathy, foot problems, periodonitis
May require insulin in some cases
Describe the epidemiology of hyperthyroidism in children
Relatively uncommon in childhood and adolescence
More common in girls, prevalence increases with age
Majority due to Grave’s disease
Neonatal thyrotoxicosis due to maternal history of autoimmune hyperthyroidism
Describe the clinical presentation of hyperthyroidism
Symptoms:
Weight loss/failure to thrive
Increased appetite
Rapid growth in height
Sweating
Heat intolerance
Fatigue
Anxiety, restlessness, irritability
Diarrhoea
Palpitations
Warm peripheries
Dyspnoea
Learning difficulties, behavioural problems - deteriorating school performance
Delayed or accelerated puberty - oligo or amenorrhoea
Signs:
Goitre
Fine tremor
Hyperreflexia
Tachycardia
Proximal muscle wasting
Hair loss
Thyroid eye disease - exophthalmos, ophthalmoplegia, lid retraction, lid lag
Pretibial myxoedema
Antibodies in thyroid disease
Anti-TPO - Grave’s and Hashimoto’s
Anti-TSH receptor - Grave’s
Anti-thyroglobulin - Hashimoto’s (also sometimes Grave’s)
How is neonatal thyrotoxicosis diagnosed?
If the mother has Graves’ disease the baby will have TFTs done between day 5-14 to check their thyroid levels
How is Grave’s disease managed in children?
Carbimazole preferred over propylthiouracil in children due to lower risk of side effects
Titrate or block and replace - titrate for 2 years then stop to see if they have gone into remission
Symptom relief - propranolol
Ophthalmology if eye disease
Definitive/long-term management
Radioiodine - not in <6, those with active eye disease or severe uncontrolled hyperthyroidism
Surgery - total thyroidectomy (in <6)
Lifelong monitoring and levothyroxine
How is neonatal thyrotoxicosis managed?
Usually self-limiting within 1-3 months, might require treatment with propranolol or carbimazole
What are the potential side effects of anti-thyroid drugs?
Minor - rashes, nausea, headaches
Agranulocytosis
Hepatitis
Acute pancreatitis
How does a thyroid storm present? How is it managed?
Presentation: fever, hyperthermia, tachycardia, hypertension leading to high output cardiac failure, GI dysfunction, CNS dysfunction and seizures
Treatment: IV fluids, ATD (large doses of propylthiouracil +/- iodide), propranolol (minimise adrenergic effects), hydrocortisone (high risk of adrenal insufficiency), treat precipitating factor (e.g. infection)
Describe the aetiology of hypothyroidism in children
Congenital -
Thyroid dysgenesis - developmental abnormality, doesn’t develop (agenesis) or develops poorly (dysgenesis)
Thyroid dyshormogenesis - anatomically normal thyroid, enzymatic defect means unable to produce hormone normally
Acquired - rare
Hashimoto’s
How does hypothyroidism present in children?
Usually picked up on newborn blood spot screening
If not:
Prolonged neonatal jaundice
Feeding difficulties
Lethargy, increased sleeping
Constipation
Hoarse cry
Slow growth and development
Large fontanelles
Hypotonia
Bradycardia
Distended abdominal with umbilical hernia
Goitre
List conditions associated with hypothyroidism in children
Sensorineural deafness
Chromosomal disorder - Downs, Williams, Turners
Autoimmune conditions - coeliac, T1DM
How is hypothyroidism in children managed?
Levothyroxine
Regular monitoring of growth, neurodevelopment and thyroid function (especially during first 2 years of life)
Can be trialled off levothyroxine at 2-3 years old to decide if lifelong treatment is required
What causes growth hormone deficiency in children?
Congenital:
Growth hormone 1 (GH1) or growth hormone releasing hormone receptor (GHRHR) gene mutations
Empty sella syndrome - pituitary under-developed or damaged
Acquired:
Infection
Trauma
Surgery
Irradiation
How does growth hormone deficiency present in children?
Birth/neonatal:
Micropenis
Hypoglycaemia
Severe jaundice
Older infants/children:
Poor growth, usually stopping or severely slowing from age 2-3
Short stature
Slow development of movement and strength
Delayed puberty
What conditions are associated with growth hormone deficiency?
Chromosomal disorders - Turner’s syndrome, Prader-Willi syndrome
Other pituitary hormone deficiencies - hypothyroidism, adrenal insufficiency, gonadotrophin deficiency
How is growth hormonal deficiency diagnosed?
Growth hormone stimulation test - give medications which normally stimulate GH release (glucagon, insulin, arginine, clonidine) and measure GH levels
How is growth hormone deficiency managed?
Daily SC GH (somatropin)
Treat other associated hormone deficiencies
Close monitoring of height and development
List causes of short stature in children
NIDSCED
Normal genetic short stature
Constitutional delay in growth and/or adolescence - short and looks young
Intrauterine growth retardation
Dysmorphic syndromes e.g. Down’s, Turner’s
Skeletal dysplasias e.g. achondroplasia
Chronic systemic disease e.g. IBD, chronic renal failure, cystic fibrosis, severe asthma
Endocrine disorders
Dire social circumstances - severe psychosocial deprivation
Describe the cause of primary, secondary and tertiary adrenal insufficiency
Primary - Addison’s disease (usually autoimmune cause)
Secondary - inadequate ACTH stimulating adrenal glands, due to pituitary gland dysfunction
Tertiary - inadequate CRH release by hypothalamus, usually due to suppression by long-term steroid treatment
Describe the presentation of adrenal insufficiency in children
Babies:
Lethargy
Vomiting
Poor feeding
Hypoglycaemia
Jaundice
Failure to thrive
Older children:
Nausea and vomiting
Poor weight gain or weight loss
Reduced appetite
Abdominal pain
Muscle weakness or cramps
Developmental delay
Hyperpigmentation of skin - high ACTH
How is adrenal insufficiency diagnosed in children? What will the findings be in adrenal insufficiency?
U&Es - hyponatraemia, hyperkalaemia
Blood glucose - hypoglycaemia
Cortisol, ACTH, aldosterone, renin
Primary:
Low cortisol
High ACTH
Low aldosterone
High renin
Secondary:
Low cortisol
Low ACTH
Normal aldosterone
Normal renin
Short synacthen test - ACTH stimulation test
Failure to cortisol to rise = Addison’s
How is adrenal insufficiency managed?
Steroid replacement titrated to signs, symptoms and electrolytes
Hydrocortisone to replace cortisol
Fludrocortisone to replace aldosterone
Increase dose during acute illness
Monitor growth and development, BP, U&Es, glucose, bone profile, vitamin D
How does Cushing’s disease present in children?
Weight gain with growth impairment
Other symptoms - hypertension, hirsutism, amenorrhoea, delayed sexual development, virilisation, skin problems (acne, striae, bruising, acanthosis nigricans)
What causes Cushing’s in children?
Rare
Most common cause - exogenous steroid administration
Most common endogenous cause - ACTH-secreting pituitary microadenoma
How is Cushing’s disease managed in children?
Exogenous steroid - taper dose
Trans-sphenoidal resection of microadenoma
Pituitary irradiation
List causes of gonadal axis failure in children
Kallmann’s syndrome - reduced sense of smell and hypogonadism, failure to produce gonadotropin-releasing hormone
Primary ovarian failure - Turner’s syndrome, total body irradiation prior to BM transplant for leukaemia
Primary testicular failure - surgery for cryptorchidism, Klinefelter’s syndrome, total body irradiation
List causes of diabetes insipidus
Neurogenic - decreased circulating levels of ADH
Mutations in ADH gene
Idiopathic
Tumours - pituitary adenomas or craniopharyngiomas
Trauma
Infections
Vascular e.g. Sheehan’s syndrome
Sarcoidosis
Haemachromatosis
Nephrogenic - impaired ADH binding or reabsorption
Mutations in ADH receptor gene
Mutations in aquaporin-2 gene
Metabolic - hypercalcaemia, hyperglycaemia, hypokalaemia
Drugs - lithium, demeclocycline
Chronic renal disease
Amyloidosis
Post-obstructive uropathy
How does diabetes insipidus present in children?
Excessive urination - >3L/24 hours
Excessive thirst
Nocturia, eneuresis
Dehydration - dry mucous membranes, prolonged CRT, reduced skin turgor
Hypotension
Dilute urine
How is diabetes insipidus investigated?
24-hour urine collection
Bloods - plasma glucose, U&Es, urine specific gravity, simultaneous plasma and urine osmolality
Fluid deprivation test - then give desmopressin
How is diabetes insipidus managed in children?
Mostly primary polydipsia - don’t need investigation or management, restrict drinking
Neurogenic - replacement with desmopressin
Nephrogenic - drink enough to satisfy thirst, correct metabolic abdnomalities, sometimes high-dose desmopressin
When should a child’s growth be investigated?
Height <3rd centile
Height velocity low for age (and for Tanner Stage)
Out-with the mid-parental height range
How should a child of short stature be assessed?
FHx:
Parents’ height
Parents’/siblings history of height and puberty
Consanguinity
PMHx:
Birth weight
Perinatal history
Other conditions
Medication
Current concern:
Duration of problem
Weight changes
Other current symptoms
Baseline investigations:
FBC
ESR
U&E
LFT
Bone profile
IGF-1
TSH, fT4
Coeliac Abs
Bone age - X-ray
Karyotype (girls- when suspicion for Turner)
Describe bone growth in children
Epiphyseal plates (growth plates) at the ends of long bones which allow bones to grow in length
Made of hyaline cartilage, between epiphysis and metaphysis
Once epiphysis and metaphysis fuse during teenage years, the growth plates become the epiphyseal lines
Bones grow through officiation of cartilage matrix by osteoblasts
Under influence of growth hormone and sex hormones (oestrogen/progesterone)
Continue to grow in diameter throughout adulthood in response to stress from increased muscle activity/weight - osteoblast deposition and osteoclast resorption
List differences between fractures in adults and children
Fracture patterns - buckle fractures, plastic deformation and greenstick fractures (more bendy, less brittle)
Time to healing - femoral fractures heal in ‘age in years + 1’ weeks, physeal fractures heal in 2-3 weeks (much quicker than adults)
Remodelling - increased capacity for remodelling, especially in <8, close to joint, where residual deformity is in plane of joint (rotational deformities do not remodel)
Treatment - complications of immobility (DVT, stiffness, osteoporosis, pressure sores) don’t occur in children, relies on plaster casts and percutaneous fixation with K-wires (in adults rigid internal fixation used more)
Describe principles of fracture management in children
Mechanical alignment of fracture:
Closed reduction - manipulation of joint
Open reduction - surgery
Stability:
External casts
K wires
Intramedullary wires/nails
Screws
Plates
Pain management
Step 1 - paracetamol or ibuprofen
Step 2 - morphine
Remember safeguarding - does the story make sense? Has this happened before?
Which pain medications are contraindicated in children?
Codeine and tramadol - unpredictability in metabolism
Aspirin (contraindicated in <16) - Reye’s syndrome, unless in Kawasaki disease
List the features of benign leg pain complex
Nocturnal - wake suddenly from sleep with cramp-like pains, return to sleep with simple measures
Simple measures - massage, reassurance, simple analgesia
Functionally normal the next day
Often bilateral, or changes site on different occasions
Relationship to exercise previous day
Resolves next day
Primary school age
Examination normal
Investigations normal
Describe fractures of the growth plate and their classification
Salter-Harris classification - higher grade more likely to disturb growth
SALTR
Type 1 - Straight across
Type 2 - Above
Type 3 - BeLow
Type 4 - Through
Type 5 - CRush
Characteristics:
Type 1 - separation of growth plate without involvement of metaphysis or epiphysis (most commonly at distal fibular epipysis)
Type 2 - across growth plate, small fragment of metaphysis attached to epiphysis (distal radial epiphysis)
Type 3 - across growth plate, extension into epiphysis (distal tibial epiphysis, epiphysis of proximal and middle phalanges)
Type 4 - fracture line through epiphysis and part of diaphysis (lateral condyle in elbow and distal tibial epiphysis)
Type 5 - crush injury, diagnosed due to deformity retrospectively (rare, most common at distal tibial epiphysis)
Describe the prognosis of Salter-Harris fractures
Salter-Harris I, II, III - usually no problems with growth, no deformity
Salter-Harris IV - potential for malunion, formation of bony bridge with disturbance in growth if not anatomically reduced
Salter-Harris V - diagnosed retrospectively due to deformity, poor prognosis, bone growth arrest
List the types of fracture which are more common in children
Torus (buckle)
Greenstick
Plastic deformity
Epiphyseal (Salter-Harris)
How is a a paediatric MSK condition defined as a normal variant? List common normal variants.
Exclusion of underlying pathologies
Symmetrical deformity
No symptoms, underlying systemic illness or skeletal dysplasia
No stiffness on examination
(5 Ss)
Common normal variants:
In/out-toeing
Bow legs
Flat feet
Curly toes
Describe the presentation of Osgood-Schlatter’s syndrome
Usually boys 10-15 who are physically active
Pain over tibial tuberosity at insertion of patellar ligament
May be accompanied by swelling and local tenderness
Usually unilateral, can be bilateral
Visible or palpable hard and tender lump at the tibial tubersoity
Pain exacerbated by physical activity, kneeling and on extension of the knee
Describe the pathophysiology of Osgood-Schlatter syndrome
Overuse syndrome
Stress from running, jumping etc. while there is growth at the epiphyseal plate (at tibial tuberosity) causes patellar tendon. to pull away tiny pieces of the tibia (avulsion fractures), stimulates bone growth which causes enlarged tibial tuberosity
Initially bump is tender due to inflammation, but as bone heals and inflammation settles it becomes hard and non-tender
How is Osgood-Schlatter’s syndrome managed?
Restrict physical activity
Ice
NSAIDs (ibuprofen) for symptomatic relief
Once symptoms settle - stretching and physio
Symptoms usually resolve over time, left with bony lump on knee
Describe the presentation of anterior knee pain and its management
Anterior knee pain which may radiate to posterior joint
Aggravated by activities such as squatting, going up stairs, sitting for knee flexed for prolonged periods of time
May be tender over articular surface of patella
Management:
Activity modification to avoid precipitating factors
Quadriceps strengthening exercises
Tends to come and go throughout adolescence and young adulthood
Describe the presentation of a pulled elbow, its pathophysiology and management
Toddler after acute episode of longitudinal traction of the arm
Crying child who refuses to move elbow
Pathophysiology - radial head partially slips from enfolding annular ligament
Management:
Exclude fracture
Reduce by supination and pronation of forearm with elbow flexed
List the 5 MSK conditions which should be screened for at the newborn check
Erb’s palsy
Supernumerary digits
Foot deformities (differentiate fixed from postural deformities)
Hip examination - developmental dysplasia of the hip
Congenital muscular torticolis
Describe the differential diagnosis of hip pain in children of different ages
0-4 years:
Septic arthritis
Developmental dysplasia of the hip
Transient synovitis
5-10 years:
Septic arthritis
Transient synovitis
Perthe’s disease
10-16 years:
Septic arthritis
Slipped upper femoral epiphysis
Juvenile idiopathic arthritis
What are the red flags for hip pain in children?
<3
Fever
Waking at night with pain
Weight loss
Night sweats
Fatigue
Persistent pain
Morning stiffness
Swollen or red joint
How should a child with hip pain be investigated?
Bloods - FBC, CRP, ESR
X-ray - fractures, SUFE, other bony pathology
US - effusion
Joint aspiration - septic arthritis
MRI - osteomyelitis
What is the differential diagnosis of an acute limp in childhood?
<3 years
Fracture of soft tissue injury - ‘Toddler fracture’, sprain/strain, remember NAI
Developmental dysplasia of the hip
3-10 years
Transient synovitis
Fracture or soft-tissue injury - consider stress fracture, NAI
Perthe’s disease
10-19 years
Fracture or soft tissue injury - consider stress fracture, NAI
Slipped upper femoral epiphysis
Perthe’s disease
Osgood-Schlatter disease
Sever’s disease
Osteochondritis dissecans
Chondrolmalacia patellae
Any age:
Septic arthritis and osteomyelitis
Other infections e.g. discitis
Malignancy - primary bone tumours, soft tissue sarcoma, leukaemia, lymphoma
Non-malignant haematological disease - sickle cell disease, haemophilia
Metabolic disease e.g. Ricket’s
Inflammatory muscle or joint disease - juvenile idiopathic arthritis and Lyme arthritis
Neuromuscular disease - cerebral palsy, spina bifida
Muscular dystrophies - Duchenne’s, Becker’s
Primary anatomical abnormality - limb length discrepancy
Non-MSK conditions - intra-abdominal pathology (inguinal hernia, appendicitis) and inguinoscrotal disorders (testicular torsion)
How should a limping child be assessed?
History -
Duration and progression of limp
Trauma?
Consider NAI
Precipitating factors
Associated pain, muscle weakness
Red flag features
Birth and developmental history
Family history
Examination -
Signs of infection
Signs of malignancy - rash, lymphadenopathy
Growth
MSK - pGALS
Investigations -
X-ray if trauma, overuse, systemic symptoms
If systemic symptoms - FBC, ESR, CRP
Joint aspiration - septic arthritis suspected
MRI if suggestive of serious condition
What are the red flag symptoms/signs of back pain in children?
<4 years old
Night pain
Functional disability
Postural shift
Lasting >4 weeks
Limitation of movement due to pain
Neurological signs - weakness, sensory loss, neuropathic pain, headaches, bowel/bladder dysfunction, saddle anaesthesia
Sudden onset severe, constant and unremitting
Systemic symptoms - fever, chills, weight loss, night sweats
Morning stiffness >30 minutes
Immunocompromised, previous malignancy
Describe the differential diagnosis of back pain in children
Muscular strain
Trauma and structural disorders - spondylolysis, spondylolisthesis, IVD herniation, Scheuermann’s kyphosis, apophyseal ring fracture
Discitis
Inflammatory - juvenile idiopathic arthritis, ankylosing spondylitis
Neoplasms - benign (osteoid osteoma, osteoblastoma, haemangioma), malignant (Ewing’s sarcinoma, lymphoma, neuroblastoma, metastatic disease)
Sickle cell disease
Pyelonephritis
Referred abdominal pain
Psychogenic
What is the differential diagnosis of scoliosis in children?
Congenital
Neuromuscular - DMD, cerebral palsy, CMT
Adolescent idiopathic
Post-traumatic, post-inflammatory, post-radiation
Skeletal dysplasia
Tumour - benign, malignant, metastatic
What is the most common cause of joint swelling in children?
Reactive arthritis, including transient synovitis of the hip, Reiter’s syndrome, rheumatic fever
Describe the presentation of transient synovitis of the hip
Age 3-10
Often within a few weeks of a viral illness
Acute or gradual onset
Limp
Refusal to weight bear
Groin/hip pain
May have mild low-grade fever
Limited range of motion - most commonly abduction affected
Otherwise well - no signs of systemic illness
How is transient synovitis of the hip managed?
Self-limiting, lasts 7-10 days
Bed rest
Activity restriction
Analgesia - paracetamol and NSAIDs
How does Reiter’s syndrome present? List the associated conditions.
Acute monoarthritis, most commonly affecting knee
Warm, swollen, painful joint
Triggered by infection - gastroenteritis, STIs (chlamydia, gonorrhoea)
Link with HLA-B27
Associations:
Bilateral conjunctivitis
Anterior uveitis
Circinate balanitis
How is reactive arthritis managed?
Rule out septic arthritis - aspirate
NSAIDs
Steroid injections
Systemic steroids?
Most resolve and don’t recur
How is reactive arthritis managed?
Rule out septic arthritis - aspirate
NSAIDs
Steroid injections
Systemic steroids?
Most resolve and don’t recur
Describe the pathophysiology of Rheumatic fever
Autoimmune condition triggered by group A beta-haemolytic streptococcal infection (usually tonsillitis)
How does rheumatic fever present?
Fever
Joint pain - migratory arthritis affecting large joints, with hot, swollen, painful joints
Rash
Shortness of breath
Chorea
Subcutaneous nodules, erythema marginatum
Heart involvement - pericarditis, myocarditis, endocarditis
How is rheumatic fever diagnosed?
Throat swab
Anti-streptococcal antibody titres
Echo, ECG, CXR
How is rheumatic fever managed?
Treat streptococcal infection - penicillin V
NSAIDs
Aspirin/steroids
Prophylactic Abx - prevent further strep infections
Monitoring and management of complications
Define juvenile idiopathic arthritis and list the subtypes
Arthritis without any other cause, lasting >6 weeks in a patient <16
Subtypes:
Systemic JIA
Polyarticular JIA
Oligoarticular JIA
Enthesitis-related arthritis
Juvenile psoriatic arthritis
How is juvenile idiopathic arthritis managed?
MDT
NSAIDs
Steroids
DMARDs
Biologics
Describe the presentation of systemic JIA (Still’s disease)
Salmon-pink rash
High swinging fevers
Enlarged lymph nodes
Weight loss
Joint inflammation and pain
Splenomegaly
Muscle pain
Pleuritis and pericarditis
Raised CRP, ESR, platelets, serum ferritin
Complication - macrophage activation syndrome, acutely unwell child with DIC, anaemia, thrombocytopaenia, bleeding and non-blanching rash
Describe the presentation of polyarticular JIA
Idiopathic inflammatory arthritis in 5 joints or more
Symmetrical
Small joints of hands and feet, large joints such as hips and knees
Minimal systemic symptoms, can be mild fever, anaemia, reduced growth
Describe the presentation of oligoarticular JIA
4 joints or less, usually only a single joint
Often larger joints, e.g. knee and ankle
More frequently in girls <6
Associated with anterior uveitis
Describe the presentation of enthesitis-related arthritis
Males >6
Inflammation of entheses
Associated with HLA-B27 gene
Symptoms of seronegative arthritis - psoriasis, IBD, anterior uveitis
Describe the presentation of juvenile psoriatic arthritis
Symmetrical polyarthritis affecting small joints or asymmetrical arthritis affecting large joints in lower limb
Plaques of psoriasis on skin
Pitting of nails
Onycholysis
Dactylitis
Enthesitis
Describe the pathophysiology of Perthe’s disease
Idiopathic osteonecrosis or avascular necrosis of capital femoral epiphysis of femoral head
Fragmentation, reossification, remodelling - femoral head enlarged or flattened
Describe the epidemiology of Perthe’s disease
More common in boys
4-12 years, mostly 5-8 years
Family history
Describe the clinical presentation of Perthe’s disease
Pain in the hip or groin
Limp - antalgic gait
Restricted hip movements
Referred pain to knee
Stiffness - loss of internal rotation and abduction
Muscle spasms
Leg length discrepancy
No history of trauma
How is Perthe’s disease diagnosed?
X-ray - bilateral AP pelvic X-ray and ‘frog-leg’ lateral X-ray
MRI can be done if diagnosis unclear
How is Perthe’s disease managed?
Conservative:
Observation
Activity limitation
Physiotherapy
Analgesia - NSAIDs
Casting and bracing
Surgical:
Osteotomy considered - >8, >50% of the femoral head damaged, non-surgical management unsuccessful
What are the potential complications of Perthe’s disease?
Osteoarthritis
General joint stiffness and immobility
Premature physeal arrest, degenerative arthritis
Acetabular dysplasia
Leg length discrepancy
Describe the presentation of slipped upper femoral epiphysis
More common in boys, typically presents aged 8-15
Obese
Vague presenting symptoms
Hip, groin, thigh or knee pain
Restricted range of hip movement
Painful limp
Restricted movement in the hip - fixed in internal rotation, restricted internal rotation
Weakness and muscle atrophy
How is slipped upper femoral epiphysis diagnosed?
Bilateral AP pelvic X-rays, frog-leg lateral X-ray
How is slipped upper femoral epiphysis managed?
Options:
Internal fixation of the epiphysis with a screw
Bone graft epiphysiodesis
Spica cast
Internal fixation with multiple pins
List the potential complications of slipped upper femoral epiphysis
Chondrolysis
Late deformity
SCFE in the contralateral hip
Osteonecrosis
Infection
Chronic pain
Degenerative arthritis
Pin-associated fracture
Describe the aetiology of osteomyelitis
Can be haematogenous spread, direct inoculation or microorganisms into bone (open fracture, penetrating injury) or direct spread from nearby infection
Common causative organisms - staph aureus, strep, enterobacteur
List risk factors for osteomyelitis in children
More common in boys and <10
Open bone fracture
Orthropaedic surgery
Immunocompromised
Diabetes
Sickle cell anaemia
HIV
TB
Recent chickenpox - scratching introduces S. aureus
Describe the clinical presentation of osteomyelitis
Severe, constant pain in affected region - often near metaphyses
Refusing to weight bear, limp
Low grade pyrexia
Pain worse at night
Recent trauma/surgery
Swelling
How is osteomyelitis diagnosed?
X-ray often initial investigation, but can be normal (normal X-ray doesn’t exclude osteomyelitis)
Definitive diagnosis - MRI
Gold standard diagnosis - culture from bone biopsy at debridement
Also need blood cultures
How is osteomyelitis managed?
Prolonged antibiotics
If clinically unwell, limb shows evidence of deterioration or imaging shows progressive bone destruction then may need surgical management - curettage of infected bone
List the causes of rickets
Vitamin D deficiency - lack of light +/- lack of dietary Vit D
Calcium deficiency - reduced absorption e.g. coeliac, inflammatory bowel disease
Hereditary hypophosphataemic (Vitamin D resistant) - impaired parathyroid hormone dependent proximal renal tubular resorption of phosphate
Vitamin D dependent rickets - type 1 defect in renal-1 hydrolase, type 2 end organ unresponsiveness to 1,25 vit D3
Hypophosphatasia
Describe the clinical presentation of rickets
May be asymptomatic
Lethargy
Bone pain
Swollen wrists
Bone deformity - valgus or varus deformities, frontal bossing, delayed teeth, Rachitic rosary
Poor growth
Dental problems
Muscle weakness
Pathological or abnormal fractures
Describe the aetiology of neural tube defects
Incomplete closure of the neural tube within 28 days of conception
Risk factors:
Maternal folate deficiency
Maternal B12 deficiency
Sibling with neural tube defect
Smoking
Diabetes
Anti-epileptic drugs
How can neural tube defects be prevented?
Supplementation with folic acid from 1 month before conception until week 12 of pregnancy
If low risk 400 micrograms
If high risk 5mg - previous neural tube defect, antiepileptic medication, diabetes, sickle-cell disease
Describe the spectrum of neural tube defects
Different locations and severity of defect
Anencephaly - severe, absence of a major portion of the brain and skull, usually stillborn or die quickly after birth
Encephalocele - sac-like protrusions of brain through skull
Hydrancephaly - cerebral hemispheres missing, filled with sacs of CSF, develop hydrocephalus
Spina bifida
Cystica - includes meningocele and myelomeningocele
Meningocele - less severe, herniation of meninges (not spinal cord) through the opening in the spinal canal
Myelomeningocele - herniation of meninges and spinal cord, brainstem and cervical cord likely to be affected (Chiari malformation)
Occulta - bony abnormality but no herniation of meninges or spinal cord, usually asymptomatic but higher risk of scoliosis/other spinal deformities, ‘tethering’ of spinal cord
Describe the clinical presentation of spina bifida
Occulta - usually asymptomatic
Can have physical signs at site of lesion - altered skin pigmentation, tuft of hair, asymmetrical gluteal cleft, sacral dimple
Cystica:
Flaccid weakness of lower limbs
Reflexes absent
Lack of sensation
Muscle atrophy of lower limbs
Spine deformity
Associated problems - mobility, sensation, bowel and bladder function, hydrocephalus, learning problems
Describe the variation in functioning of children with spina bifida and the associated level of their spinal defect
Community ambulators (L3 and below) - walk indoors and outdoors for most activities, may use wheelchair for longer trips
Household ambulators (L3 or mid-lumbar) - walk indoors, use wheelchair in community
Non-functional ambulators (L1-L3) - walk in physio sessions or with orthotic devises, use a wheelchair for all practical mobility
Non-ambultors - always use wheelchair
How are neural tube defects diagnosed?
18-20 week fetal anomaly scan can detect neural tube defects
16-18 weeks - can measure AFP levels, higher in neural tube defects (non-specific)
Amniocentesis can differentiate between types
Imaging after birth to assess spinal anatomy
How is spina bifida managed?
MDT approach
Often surgical intervention required
Management of complications - hydrocephalus (ventriculo-peritoneal shunt), neurogenic bladder (self-catheterisation)
List the differential diagnosed for epileptic seizures in childhood
Newborn:
Jitteriness
Hyperekplexia
benign sleep myoclonus
Infancy:
Breath-holding spells
Shuddering attacks
Stereotypes
Benign paroxysmal torticollis
Benign paroxysmal tonic upward gaze
Benign paroxysmal vertigo
Sleep disorders
Self-stimulation
Sleep apnoea
Repetitive movements - rocking, head banging
Sandifer syndrome - spasms associated with reflux
Tics
Adolescent:
Migraine
Syncope
Sleep disorders
Tics
Psychogenic crises
List the differential diagnosis for headaches in childhood
Tension headaches
Migraines
ENT infection
Analgesic headache
Problems with vision
Raised ICP
Brain tumours
Meningitis
Encephalitis
Carbon monoxide poisoning
Describe the presentation of tension headaches in children
Mild ache across forehead, pain or pressure in a band-like pattern around the head
Come on and resolve gradually, no visual changes or pulsating sensations
Symmetrical
Non-specific symptoms in younger children - quiet, tired, pale
Resolve within 30 minutes
Triggers - stress, fear, discomfort, skipping meals, dehydration, infection
How are tension headaches in children managed?
Reassurance
Analgesia
Regular meals
Avoid dehydration
Reduce stress
Describe the presentation of migraines
Unilateral
Severe
Throbbing
Take longer to resolve
Associated with - visual aura, photophobia and phonophobia, nausea and vomiting, abdominal pain (abdominal migraines more common in children)
How are migraines in children managed?
Acute management:
Rest, fluids, low-stimulus environment
Paracetamol
Ibuprofen
Sumatriptan
Antiemetics e.g. domperidone
If having a significant impact on life can use prophylactic treatment:
Propranolol - avoid in asthma
Pizotifen - causes drowsiness
Topiramate - highly teratogenic
List the most common brain tumours in children and their characteristics
Astrocytoma - low and high grade gliomas that develop from glial cells
Medulloblastoma - usually inposterior fossa/cerebellumneuroepithelial stem cells
Ependymoma - from CSF producing ependymal cells
Craniopharyngioma - benign, at base of brain close to pituitary gland
Germ cell tumours - from germ cells, usually close to pituitary and pineal gland
Choroid plexus tumours - from ependymal cells
List risk factors for brain tumours in childhood
Personal or family history of brain tumour, leukaemia, sarcoma, early onset breast cancer
Prior therapeutic CNS irradiation
Neurofibromatoasis 1 and 2
Tuberous sclerosis 1 and 2
Other familial genetic syndromes - von Hippel-Lindau
Describe the presentation of a child with a brain tumour
Symptoms:
Headache - persistent or recurrent, day or night, may disturb sleep
Nausea/vomiting - raised ICP
Behavioural change - frontal lobe tumours
Polyuria/polydipsia - ADH production problems
Seizures
Altered GCS
Delayed milestones, neurodevelopmental delay
Signs:
Visual symptoms - diplopia, reduced visual acuity/visual fields
Motor - abnormal gait/coordination, swallowing difficulties, weakness
Delayed growth
Delayed, arrested or precocious puberty
Increased head circumference - <2
How is a brain tumour diagnosed in children?
MRI - may need sedation/general anaesthetic
If not possible to get MRI can use contrast-enhanced CT
How are brain tumours managed?
Initial - analgesia, antiemetics, anticonvulsants, steroids (lower ICP), may need shunt for hydrocephalus
Surgical resection
Radiotherapy
Chemotherapy
Describe the prognosis of brain tumours in children
5-year survival for all brain and spinal tumours - 73%
Low grade astrocytoma - 95%
High grade astrocytoma - 25%
Describe the production, flow and re-absorption of CSF
Produced by choroid plexus - lines ventricles
Flows from lateral ventricles to third ventricle via the foramen of Monro, through cerebral aqueduct to the fourth ventricle and into the subarachnoid space through the apertures of Magendie and Luschka
Drainage in subarachnoid cisterns, arachnoid granulations protrude into dura mater, drain into dural venous sinuses
Define cerebral perfusion pressure, describe what determines it and the clinical consequences of changes in CPP
Net pressure gradient causing cerebral blood flow to the brain
CPP = mean arterial pressure - intracranial pressure or central venous pressure (whichever is highest)
Cerebral blood flow = CPP/cerebral vascular resistance
Increased = raised ICP
Decreased = ischaemia
List causes of hydrocephalus in childhood
Congenital causes -
Aqueductal stenosis
Arachnoid cysts
Arnold-Chiari malformation
Chromosomal abnormalities
Acquired causes -
Infective meningitis
Obstructing tumour or cyst
How does hydrocephalus present in children?
Sutures don’t fuse until 2 years old - babies will have enlarged and rapidly increasing head circumference
Bulging anterior fontanelle
Poor feeding and vomiting
Poor tone
Sleepiness
Headache - worse in morning
Blurred vision
Gait abnormalities
Papilloedema
How is hydrocephalus managed? What are the potential complications of this managed?
Ventriculoperitoneal shunt - drains CSF into peritoneal cavity
Complications:
Infection
Blockage
Excessive drainage
Intraventricular haemorrhage during surgery
Outgrowing them - need replacing every 2 years as child grows
Describe the normal respiratory rate in children
Newborn - 40-60
1 week to 3 months - 30-50
3 months to 2 years 30-40
2 to 10 years - 14-24
>10 - 12-20
Describe the aetiology of cystic fibrosis
Autosomal recessive
Mutations on chromosome 7 in the CT transmembrane conductance regulator (CFTR) gene, most common mutation in Caucasians DF508
CFTR - chloride channel present in numerous epithelial tissues of respiratory tract, pancreas, GI tract, reproductive tract
Describe the pathophysiology of symptoms/complications in cystic fibrosis
Respiratory tract - reduces amount of water in secretions, reduced airway surface liquid, impedes mucus clearance, pro-inflammatory, immunocompromise
Pancreas - pancreatic insufficiency
GI tract - viscous mucus, meconium ileus, cholestasis, distal intestinal obstruction syndrome, CF-related liver disease
Reproductive tract - infertility due to congenital absence of vas deferens
How is cystic fibrosis diagnosed?
Newborn blood spot test screens for CF - measures immunoreactive trypsin levels, raised in CF
If presents later - chloride sweat test and genetic investigation indicated
Describe the clinical presentation of cystic fibrosis
Neonates:
Meconium ileus - abdominal distension, delayed passage of meconium, bilious vomiting
Failure to thrive
Prolonged neonatal jaundice
Infancy:
Failure to thrive
Recurrent chest infections
Pancreatic insufficiency - steatorrhoea
Childhood:
Rectal prolapse
Nasal polyps
Sinusitis
Adolescence:
Pancreatic insufficiency - diabetes mellitus
Chronic lung disease
Distal intestinal obstruction syndrome, gallstones, live cirrhosis
Signs:
Finger clubbing
Nasal polyps
Hyperinflated, crepitations
Faecal mass
Poor growth, delayed puberty
Anaemia of chronic disease
List causes of finger clubbing in children
Hereditary clubbing
Cyanotic heart disease
Infective endocarditis
Cystic fibrosis
Tuberculosis
Inflammatory bowel disease
Liver cirrhosis
How is cystic fibrosis managed?
MDT - GP, respiratory, CF nurse, dietician, physiotherapist, occupational therapist, psychologist
Airway clearance and chest symptoms:
Physio - increase airway clearance
Mucolytics and DNase
Hypertonic saline
Bronchodilators
Nourishment and exercise:
Physical exercise
Pancreatic enzyme supplementation (CREON)
Vitamin A, D, E supplements
Monitor growth
High calorie, high fat diet
PEG/NG tube feeding
Fertility counselling
Surgery:
Transplant (lung +/- heart)
Airway infections:
Sputum cultures
Prophylactic flucloxacillin
Vaccinations - pneumococcal, influenza, varicella
Infections - 2 weeks antibiotics, high doses
Treat complications:
Diabetes - insulin
Pneumothorax
List the organisms which can colonise the airways of patients with cystic fibrosis
Staphylococcus aureus
Haemophilus influenza
Klebsiella pneumoniae
Escherichia coli
Burkhodheria cepacia
Pseudomonas aeruginosa
Describe the consequences and management of pseudomonas colonisation in cystic fibrosis
Once colonised difficult to get rid of, develop resistance to multiple antibiotics and forms biofilms
Management - nebulised antibiotics (tobramycin), oral ciprofloxacin
Keep CF colonised with pseudomonas away from those who aren’t
Describe monitoring in cystic fibrosis
Typically 6 monthly - annual review
Sputum culture every time to check for colonisation
CXR
Pulmonary function tests
Screen for diabetes, osteoporosis, vitamin D deficiency, liver failure
Describe the prognosis of cystic fibrosis
Median life expectancy 47 years
List the differential diagnosis of an acute cough in children
URTI
Croup
Bronchiolitis
Pneumonia
Acute exacerbation of asthma/viral induced wheeze
Pertussis
Inhaled foreign body
List the differential diagnosis of chronic cough in children
Asthma
Infection - TB, recurrent aspiration
GORD
Chronic illness - cystic fibrosis, Kartagener syndrome (primary ciliary dyskinesia)
Rare - extrinsic compression of trachea/bronchus by enlarged heart, glands or tumour
List the differential diagnosis of acute stridor in children
Acute laryngotracheobronchitis (croup)
Acute epiglottitis/bacterial tracheitis
Inhaled foreign body
Rare - retropharangeal abscess, acute angioneurotic oedema, vascular rings
Define viral wheeze and describe its pathophysiology
Acute wheeze caused by a viral infection - inflammation and oedema of small airways in viral illness, triggers smooth muscles to constrict
Reduced airflow, causes wheeze
How is viral wheeze distinguished from asthma
Viral wheeze - only occurs during viral infections, no history of atopy, presents before 3 years
Asthma - can be triggered by viral or bacterial infection, other triggers e.g. exercise, cold weather
Viral wheeze may increase risk developing of asthma
How does viral wheeze present?
Evidence of viral illness (fever, cough, coryzal symptoms) for 1-2 days preceding the onset of:
Shortness of breath
Signs of respiratory distress
Widespread expiratory wheeze
How is viral-induced wheeze managed?
Same as acute asthma -
Oxygen
Bronchodilators - salbutamol, ipratropium bromide, IV magnesium sulphate, aminophylline
Steroids
Describe the presentation of pneumonia in children
Cough - productive, green sputum
High fever
Tachypnoea
Tachycardia
Increased work of breathing
Lethargy
Confusion
Hypotension
Bronchial breath sounds
Focal coarse crackles
Dullness to percussion
Cyanosis
Reduced saturations
What are the most common causes of pneumonia in children?
Bacterial:
Streptococcus pneumonia - most common bacterial cause
Group A strep e.g. strep pyogenes
Group B strep - pre-vaccinated, often contracted during birth
Staph aureus
Haemophilus influenza - pre-vaccinated or unvaccinated
Atypical - mycoplasma pneumonia (extra-pulmonary manifestations e.g. erythema multiforme)
Viral:
RSV - most common
Parainfluenza
Influenza
How is pneumonia managed in children?
Antibiotics - all children with clinical diagnosis of pneumonia should be given antibiotics, difficult to distinguish viral and bacterial
Amoxicillin is first choice
At home:
Manage fever with paracetamol if child distressed
Fluids
If severe features (sats <92%, increased work of breathing, cyanosis, >38 fever in child aged 3 months or less) - require admission
Oxygen to maintain sats >92%
IV antibiotics if sepsis or problem with intestinal absorption
How should a child with recurrent LRTIs be assessed?
History/examination - assess for underlying lung/immune condition
FBC - WBC
CXR - structural abnormality, scarring from infections
Serum immunoglobulins
Sweat test - cystic fibrosis
HIV test
Describe the aetiology and epidemiology of bronchiolitis
Inflammation and infection in the bronchioles
Usually caused by a virus - RSV is most common cause
Other causes - parainfluenza, influenza A, rhinovirus, adenovirus, human metapneumovirus
Occurs in <2 year olds, most common in <6 months
Small airways so any inflammation/mucus has a significant effect on infants breathing
Describe the clinical presentation and natural course of bronchiolitis
Incubation period 5 days, coryzal symptoms for 1-3 days, symptoms peak between day 3-5, symptoms last 7-21 days
Coryzal symptoms - rhinorrhoea, nasal obstruction and sneezing
Low-grade fever
Persistent cough
Apnoea
Feeding difficulty
Signs of respiratory distress
Dyspnoea
Tachypnoea
Inspiratory crackles
Expiratory wheeze
Cyanosis, pallor
Hyperinflated chest
List the signs of respiratory distress in children
Tachypnoea
Use of accessory muscles - sternocleidomastoid, abdominal and intercostal muscles
Intercostal, subcostal, sternal recessions
Nasal flaring
Head bobbing
Tracheal tug
Cyanosis
Added noises - stridor, stertor, wheeze, grunting
List risk factors for bronchiolitis
Bottle fed or breast fed for <2 months
Smoke exposure
Siblings who attend nursery or school
Chronic lung disease of prematurity
How is bronchiolitis managed?
Supportive management
Ensure adequate intake - oral, NG tube, IV fluids depending on severity (avoid overfeeding)
Saline nasal drops and nasal suctioning to clear nasal secretions (obligate nasal breathers)
Supplementary oxygen if sats <92%
Ventilatory support if required - high-flow oxygen, CPAP, intubation
When should babies with bronchiolitis be referred to hospital?
Immediately if:
Apnoea - observed or reported
Looks seriously unwell
Severe respiratory distress
Central cyanosis
Consider if:
RR >60
Feeding 50-75% of usually volume
Clinical dehydration
Persistent oxygen saturation <92% on air
Lower threshold for hospital admission - chronic lung disease, congenital heart disease, <3 months, premature, immaturity, neuromuscular disorders
Describe prophylaxis given for bronchiolitis
Palivizumab - monoclonal antibody, targets RSV
Monthly injection given to high risk babies - ex-premature, congenital heart disease
List risk factors for asthma
Genetic factors - asthma/atopy in parents or siblings
Environmental factors - low birth weight, prematurity, parental smoking
Viral bronchiolitis in early life
List triggers for asthma
Cold air
Exercise
Atmospheric pollution
Allergens - dust, pets, foods
Drugs - NSAIDs, beta-blockers
Viral/bacterial infection
Stress/emotions
List the recognised clinical patterns of viral wheeze
Episodic viral wheeze – wheezing only in response to viral infection and no interval symptoms
Multiple trigger wheeze – wheeze in response to viral infection but also to other triggers such as exposure to aeroallergens and exercise
Describe the presentation of asthma
Episodic symptoms with intermittent exacerbations
Diurnal variability - worse at night and early morning
Dry cough with wheeze and SOB
Typical triggers
History of other atopic conditions - eczema, hayfever, food allergies
Bilateral widespread ‘polyphonic’ wheeze
Reversibility with bronchodilators
How can asthma be diagnosed?
Spirometry, reversibility testing with bronchodilators
Direct bronchial challenge with histamine or methacholine
Fractional exhaled nitric oxide
Peak flow variability - keep diary of peak flow measurements for 2-4 weeks
Other:
Exercise testing
Skin prick testing for allergens
CXR - baseline
How is chronic asthma managed in children aged 5-12?
- Short-acting beta-2 agonist - all symptomatic patients
- Inhaled corticosteroid - if using SABA >3 per week, have asthma symptoms >3 per week, woken at night by asthma symptoms >1 per week
- Consider adding leukotriene receptor antagonist, if this is ineffective stop and add LABA with ICS
- Increase dose ICS
- Consider adding leukotriene receptor antagonist (if not already started) or theophylline
- Refer to specialist
How is chronic asthma managed in children <5 years?
- SABA
- Add low dose ICS or leukotriene antagonist
- Add ICS or leukotriene (whichever they haven’t been started on already)
- Refer to specialist
How is chronic asthma managed in children >12?
Same as adults
- SABA
- Add low dose ICS
- Add LABA - continue if good response
- Increase dose ICS, consider leukotriene receptor antagonist, oral theophylline or LAMA
- Increase dose ICS, consider additional treatments from step 4
- Oral steroids
What are the potential side effects of treatment for asthma in children?
Steroids:
Potential for growth suppression - dose-dependent, may slightly reduce growth velocity and cause a small reduction in final adult height of up to 1cm
Oral thrush
Adrenal suppression if long-term high dose
SABA/LAMA:
Tremor
Headache
Palpitations
Hypokalaemia
Theophylline:
Overdose - vomiting, agitation, tachycardia, hyperglycaemia
Describe inhaler technique in children
Without a spacer:
Remove cap
Shake inhaler
Sit or stand up straight
Lift chin
Fully exhale
Tight seal around inhaler between lips
Take a steady breath in whilst pressing the canister
Hold breath for as long as comfortably possible (at least 10 seconds)
Wait 30 seconds before giving further dose
Rinse mouth after using steroid inhaler
With spaces:
Same but spray dose into spacer and take steady breaths in and out 5 times until mist is fully inhaled
Describe the presentation of an acute exacerbation of asthma in children
Progressively worsening shortness of breath
Signs of respiratory distress
Tachycardia
Widespread expiratory wheeze on auscultation
Reduced air entry. on auscultation
Silent chest - late sign
Describe the grading of severity of an acute exacerbation of asthma in children
Moderate acute:
Able to talk in sentences
SpO2 ≥92%
PEF ≥50% best or predicted
Heart rate - ≤140/min in children aged 1–5 years, ≤125/min in children >5 years
Respiratory rate - ≤40/min in children aged 1–5 years, ≤30/min in children >5 years
Acute severe:
Can’t complete sentences in one breath or too breathless to talk or feed
SpO2 <92%
PEF 33-50% best or predicted
Heart rate >140/min in children aged 1–5 years, >125/min in children >5 years
Respiratory rate >40/min in children aged 1–5 years, >30/min in children >5 years
Life-threatening asthma:
Any one of the following in child with severe asthma -
Exhaustion
Hypotension
Cyanosis
Silent chest
Poor respiratory effort
Confusion
PEF <33% best or predicted
SpO2 <92%
Describe the management of an acute exacerbation of asthma in children
Supplementary oxygen if required (sats <94% or increased work of breathing)
Mild:
Regular salbutamol inhalers via a spacer (4-6 puffs every 4 hours)
Moderate to severe - step up approach:
1. Salbutamol inhaler via spacer - start with 10 puffs every 2 hours
2. Nebulised salbutamol (SABA) (every 20-30 minutes)
3. Nebulised ipratropium bromide (SAMA) (every 20-30 minutes)
4. Corticosteroids - oral prednisolone
5. IV salbutamol
6. IV magnesium sulfate
7. Consider intubation/ventilation
Involve anaesthetist/ICU early
When can children be discharged following an acute exacerbation of asthma?
Stable on 3-4 hourly bronchodilators
PEF should be >75% of best or predicted
SpO2 >94%
Inhaler technique assessed/taught
Written asthma management plan given and explained to parents
GP should review the child 2 days after discharge
Describe the clinical presentation of foreign body inhalation
In larynx or trachea:
Sudden onset
Coughing, choking +/- vomiting
Severe respiratory distress
Stridor
Cyanosis
Drooling and voice changes
Total obstruction will rapidly progress to unconsciousness and cardiorespiratory arrest
Difficulty ventilating
In main bronchus:
Episode of choking, coughing, wheezing
Tachypnoea
Respiratory distress
Cyanosis
Persistent wheeze - focal
Persistent cough
Fever
Haemoptysis
SOB
Recurrent/persistent consilidation
May be asymptomatic after initial event before developing complications - pneumonia, abscess, bronchiectasis
Lower than main bronchus:
Often asymptomatic after initial event, then develop complications
How is a child who has inhaled a foreign body and is acutely unwell managed?
Encourage coughing
Urgently call for anaesthetics and/or ENT to assist with airway
Give 5 back blows, 5 chest thrusts
Open airway, look for obstructing foreign body and remove if seen
Do not perform a blind finger sweep
If patient unresponsive start CPR, examine airway under direct laryngoscopy prior to each ventilation, use Magill forceps to remove if foreign body seen
If foreign body above vocal cords - cricothyroidotomy
If below may need to be taken to theatre to remove
Define epiglottitis and describe the aetiology and epidemiology
Inflammation and swelling of epiglottis
Mainly due to infection with haemophilus influenzae type B (also strep pneumonia)
Classically children aged 2-7
Prevalence greatly decreased due to vaccination against HiB
Now greater incidence in elderly, those from countries without HiB vaccination
Describe the clinical presentation of epiglottitis
4 D’s:
Dyspnoea
Dysphagia
Drooling
Dysphonia - muffled ‘hot potato’ voice
Sore throat
No cough
Stridor
Tripod position
Fever
How should a patient with epiglottitis be assessed?
A-E assessment
DON’T DISTRESS PATIENT - hands-off approach
If acutely unwell no investigations necessary, lateral X-ray of neck shows thumbprint sign (swollen epiglottis)
Throat swabs if intubating to aid diagnosis and guide management
How is epiglottitis managed?
Don’t distress patient
Alert senior paediatrician and anaesthetist (ICU/HDU)
Prepare for intubtation/tracheostomy - not usually required
Oxygen – high flow via face mask or nasal cannula, heliox if available Nebulised adrenaline 1:1000
When airway is secure:
IV antibiotics e.g. ceftriaxone
Steroids – IV dexamethasone
Blood cultures, throat swabs
IV fluids
Describe the prognosis of epiglottitis
Most don’t need intubation, if intubated can be extubated after a few days and make a full recovery
Can rapidly progress and become life-threatening
Complications:
Epiglottic abscess
Mediastinitis - spread to retropharyngeal space
Deep neck space infection
Pneumonia
Meningitis
Sepsis/bacteraemia
Describe the aetiology of bacterial trachietis
Staph aureus
Group A beta-haemolytic strep
Can be complication of croup or intubation
Describe the presentation of bacterial tracheitis
Symptoms of respiratory infection for 1-3 days then onset of stridor and dyspnoea
Can have acute onset stridor, high fever, purulent secretions
How is bacterial trachietis managed?
A-E assessment
Protect airway - intubate if required
Antibiotics - cover for staph aureus and strep species e.g. IV vancomycin and ceftriaxone
Describe the epidemiology and aetiology of croup
Usually children 6 months - 3 years, peak incidence 2 years
More common in males
Aetiology:
Parainfluenza - most common
Influenza
Adenovirus
RSV
Describe the clinical presentation of croup
Symptoms:
1-4 day history of non-specific cough, rhinorrhoea, fever
Progresses to barking cough and hoarseness
Symptoms worse at night
Fever
Red flags for respiratory failure - drowsiness, lethargy
Signs:
Stridor
Decreased air entry
Respiratory distress
Tachypnoea
Cyanosis
Decreased consciousness
Describe the scoring system used for croup
Westley croup score
Mild - 0-2
Moderate - 3-5
Severe - 6-11
Impending respiratory failure - 12-17
Compare the features of croup and epiglottitis
How should a child with croup be assessed?
Usually clinical diagnosis
Avoid distressing child
A-E assessment
When should children with croup be admitted to hospital?
Immediate:
Moderate/severe croup or impending respiratory failure
Consider:
Previous Hx severe airway obstruction
<6 months
Immunocompromised
Inadequate fluid intake
Poor response to initial treatment
Uncertain diagnosis
Significant parental anxiety
How should croup be managed?
All cases - oral dexamethasone
Mild - fluids, analgesia, worsening advice
Moderate/severe - nebulised adrenaline, oxygen as required, ENT/anaesthetist involvement, airway support
What are the potential complications of croup?
Secondary bacterial infections - bacterial tracheitis, bronchopneumonia, pneumonia
Post-obstructive pulmonary oedema
Pneumothorax
Pneumomediastinum
Define bronchiectasis
Abnormal dilatation of the airways with associated destruction of bronchial tissue
List causes of bronchiectasis
Most commonly associated with cystic fibrosis
Post-infectious - strep pneumoniae, staph aureus, adenovirus etc.
Immunodeficiency
Primary ciliary dyskinesia
Post-obstructive - foreign body aspiration
Congenital syndromes - Young’s syndrome
Describe the clinical presentation of bronchiectasis
Chronic productive cough
Purulent sputum
Dyspnoea
Recurrent or persistent LRTI
Finger clubbing
Wheeze/crackles
How is bronchiectasis managed?
Chest physio
Treat exacerbations with antibiotics
What is the most common cause of stridor in neonates?
Laryngomalacia
Define laryngomalacia and describe the epidemiology
Abnormal supraglottic laryngeal structure which can cause partial airway obstruction:
Long, curled, omega-shaped epiglottis
Tall, bulky aryepiglottic folds
Normally presents within first few weeks of life, resolves within first two years
Symptoms peak at 6-8 months
Describe the clinical presentatin of laryngomalacia
High-pitched inspiratory stridor worse on lying flat or on exertion
Normal cry
Usually mild symptoms, intermittent, may be worse when distressed or with URTI
Signs if more severe - respiratory distress, feeding difficulties, poor weight gain, obstructive sleep apnoea
How is laryngomalacia diagnosed?
Flexible laryngoscopy to visualise larynx
How is laryngomalacia managed?
Mild - do not require treatment, resolve by 12-16 months
Severe - elective surgery
Life-threatening - keep child calm, involve senior
Humidified oxygen/heliox
Nebulised adrenaline
Oral or IV dexamethasone
Ventilatory support
Describe the aetiology and consequences of primary dyskinesia/Kartagner’s syndrome
Autosomal recessive condition
More common with consanguinity
Causes dysfunction of motile cilia in body:
Respiratory tract
Fallopian tubes/sperm - infertility
Consequences:
Infertility
Bronchiectasis
Paranasal sinusitis
Situs inversus - strong association
Describe the aetiology and epidemiology of Pertussis
Caused by Bordetella pertussis - gram negative bacteria
Classically <3 months
Now more in >15, but much milder
Incidence peaks every 3-4 years
Risks - unvaccinated, exposure to infected individual
Describe the clinical presentation of whooping cough
Catarrhal phase - 1-2 weeks
Rhinitis
Conjunctivitis
Irritability
Sore throat
Low-grade fever
Dry cough
Paroxysmal phase - 2-8 weeks
Severe paroxysms of coughing followed by inspiratory gasp - ‘whoop’ sound
May be followed by vomiting and cyanosis
Can cause conjunctival haemorrhages and facial petechiae
Convalescent phase - up to 3 months
How is whooping cough diagnosed?
<2 weeks cough - culture of nasopharyngeal aspirate or nasopharyngeal swab
> 2 weeks cough - anti-pertussis toxin IgG
How is whooping cough managed?
Antibiotics don’t alter clinical course but may reduce period of infectivity if given early on - macrolide antibiotic (clarithromycin) if duration of cough <21 days
Supportive management - analgesia, fluids
Describe the fetal circulation before birth and compare to the adult circulation
Placenta is source of oxygen
Lungs are non-functional, provide no oxygenation
High energy demands of developing tissue, particularly brain
Flow of blood:
Umbilical arteries - transport deoxygenated blood back to placenta
Umbilical vein - oxygenated blood from placenta
Ductus venosus - blood bypasses the liver to IVC
IVC –> right atrium
Foramen ovale creates shunt between right atrium and left atrium, bypass lungs to aorta
Blood which gets to right ventricle goes through ductus arteriosus which connects the pulmonary artery to the aorta
From aorta to rest of body
Describe the changes which occur in the fetal circulation at birth
First breath - increased partial pressure of oxygen, which causes pulmonary vasodilation
Pulmonary vasodilation causes decreased right heart pressure
Placental circulation stops, increased left heart pressure
Combinations of these things causes foramen ovale (connects L and R atrium) to close
Remnant = fossa ovalis
Increased blood oxygenation causes drop in circulating prostaglandins, which causes closure of ductus arteriosus, 2-3 days after birth
Remnant = ligamentum arteriosum
No flow in umbilical veins - ductus venosus stops functioning, closes a few days later
Remnant = ligamentum venosum
Describe the differences between fetal and adult haemoglobin and the changes which occur to haemoglobin after birth
Adult - 2 alpha, 2 beta subunits
Fetal - 2 alpha, 2 gamma subunits
Fetal has higher affinity for oxygen compared to maternal haemoglobin - binds more strongly and enables the transfer of oxygen from mother to fetus
Fetal - oxygen dissociation curve displaced to the left compared to adult haemoglobin
At birth 80% haemoglobin remains in fetal form, falls to 10% by 4 months, continue to make fetal haemolgobin until 6 months - reduced oxygen exchange between vasculature and tissue
Describe the differences between circultation in children and adults
Blood volume relatively larger, absolute volume smaller - small blood loss will be significant
Good at compensating - hypotension is a late sign
Stroke volume smaller, limited capacity to increase so increase heart rate
What causes an innocent murmur?
Flow murmur - fast blood flow through heart during systole
List the features of an innocent murmur and list the features which would prompt investigation of a murmur in a child
Soft
Short
Systolic
Symptomless
Situation dependent - varies with position, only when child unwell/feverish
No thrill/heave
Localised to one area
Features for referral:
Murmur louder than 2/6
Diastolic murmurs
Louder on standing
Other symptoms such failure to thrive, feeding difficulty, cyanosis, or SOB
List the causes of cyanotic and acyanotic congenital heart disease
Acyanotic:
Ventricular septal defects
Atrial septal defects
Patent ductus arteriosus
Cyanotic - 6 Ts:
Tetralogy of Fallot
Transposition of great arteries
Truncus arteriosus
Total anomalous pulmonary venous connection
Tricuspid valve abnormalities
Ton of others - hypoplastic left heart, double outlet right ventricle, pulmonary atresia
Describe the clinical presentation of acyanotic congenital heart disease
Ventricular septal defect:
Small - asymptomatic
Moderate - poor feeding, failure to thrive, SOB
Large - poor feeding, failure to thrive, sweaty and pale with feeds
Atrial septal defect:
Typically asymptomatic
Patent ductus arteriosus:
Small - symptomatic
Moderate - congestive heart failure with failure to thrive
Large - poor feeding, severe failure to thrive, recurrent LRTI
Increased pulmonary blood flow - risk of pulmonary hypertension
Lesions above level of nipple - ejection systolic murmur
Lesion below level of nipple - pan-systolic murmur
Describe the clinical presentation of cyanotic congenital heart disease
Cyanosis
Poor feeding
Sweating during feeds
Poor weight gain
Severe - heart failure
List common types of innocent murmurs and describe their features
Still’s murmur - soft vibratory murmur over lower-left sternal border, normal blood flow and no cardiac lesion
Venous hum - continuous murmur loudest over clavicles due to venous return from head and neck, varies with position
Turbulent flow in pulmonary artery bifurcation - soft ejection systolic murmur caused by turbulent flow in the pulmonary artery bifurcation
What is the most common congenital heart defect?
Ventricular septal defect
Describe the consequences of a ventricular septal defect
Left-to-right shunt
Increased blood flow through pulmonary circulation - pulmonary hypertension
Increased blood through left side of heart - dilation of left atrium and ventricle
Eisenmenger’s syndrome - pressure in right ventricle higher than pressure in let ventricle due to increase in pulmonary vascular resistance, causes reversal of shunt (right-to-left), become cyanotic
List risk factors for ventricular septal defect
Maternal diabetes
Maternal rubella infection
Foetal alcohol syndrome
Uncontrolled maternal PKU
Family history VSD
Congenital conditions - Down’s syndrome, Trisomy 18, Trisomy 13, Holt-Oram syndrome
Describe the clinical presentation of ventricular septal defects
Small VSD - mild or no symptoms, usually present because systolic murmur heard during routine examination
Moderate VSD -
Sweating
Easily fatigued
Tachypnoea - worse when eating
Symptoms by 2-3 months - decreasing pulmonary vascular resistance means increasing left-to-right shunting
Large VSD -
SOB
Problems feeding
Poor weight gain
Frequent chest infections
Eisenmenger’s syndrome - cyanosis
Later - exercise intolerance, dizziness, chest pain, ankle swelling, clubbing, haemoptysis
Signs on examination:
Undernourished
Sweaty
Increased work of breathing
Colour
Clubbing
Tachypnoea
Hyperactive precordium
Typically pan-systolic murmur heard at left lower sternal border
What is the differential diagnosis for a pansystolic murmur in a neonate?
Ventricular septal defect
Mitral regurgitation
Tricuspid regurgitation
How are ventricular septal defects managed?
Small, asymptomatic - no intervention required
Medical management:
Ensure adequate weight gain - may need to supplement with NG tube feeding
Diuretics (+ spironolactine - minimise potassium loss) - reduce pulmonary congestion
ACE inhibitors - second-line, reduce systemic arterial pressure to reduce left-to-right shunt
Digoxin - third line
Surgical management:
If large/medium and causing significant symptoms or likely to cause complications in later life
Surgical repair
Catheter procedure
Important to maintain good dental hygiene, prophylactic antibiotics if dental procedures - risk of endocarditis
Describe the prognosis of ventricular septal defects
75% of small VSDs close spontaneously by age 10
Worse prognosis if pulmonary hypertension, Eisenmenger’s syndrome - better if surgically closed
Describe the development of the atrial septum and the types of atrial septal defect
Two walls - septum primum and septum secondum
Foramen ovale is in septum secondum
Types:
Ostium secondum - septum secondum fails to fully close
Patent foramen ovale - foramen ovale fails to close
Ostium primum - septum primum fails to fully close, leads to AV vale defects
Describe the clinical presentation of atrial septal defects
Mid-systolic, crescendo-decrescendo murmur loudest at upper left sternal border with fixed split second heart sound
Usually asymptomatic
Childhood symptoms:
Tachypnoea
Poor weight gain
Recurrent chest infections
Adult symptoms:
Exercise intolerance
Palpitations
Recurrent chest infections
Fatigue
Syncope
Stroke - DVT, clot can travel through defect to left heart directly to brain
Describe the physiological consequences of an atrial septal defect
Left-to-right shunt
Right heart overload and right heart strain - right sided overload and right heart failure and pulmonary hypertension
Can lead to Eisenmenger syndrome - becomes right to left shunt, patient is cyanotic
How atrial septal defects managed?
If small and asymptomatic can watch and wait, should close spontaneously
May need diuretics for heart failure
Definitive management - Surgical closure or percutaneous closure
List the potential complications of atrial septal defects
Arrhythmias - atrial stretch
Pulmonary hypertension
Eisenmenger syndrome - cyanosis
Peripheral oedema
TIA/stroke
List the conditions which are associated with atrioventricular septal defects
Down’s syndrome - 40-45% of patients with Down’s have a congenital heart defect, 45% are AVSD
Comlete AVSD - Heterotaxy syndromes
Describe the pathophysiological consequences of atrioventricular septal defects
Complete AVSD - shunt left-to-right, causes right heart failure and increased pulmonary vascular resistance
Partial AVSD - left-to-right shunts, causes volume overload of right atrium and ventricle and pulmonary over-circulation but may have normal pulmonary artery pressure
Describe the clinical presentation of atrioventricular septal defects
Tachypnoea
Tachycardia
Poor feeding
Sweating
Failure thrive
Congestive heart failure - hepatomegaly, gallop rhythm, generalised oedema
Harrison grooves in older - depression along border of chest at diaphragm insertion site due to chronic tachypnoea
Hyperactive precordium
Systolic heave on left sternal border
Palpable apical thrill
If large - mid-diastolic rumbling murmur along lower left sternal border with prominent third heart sound
Describe management of atrioventricular septal defects
Medical therapy:
Diuretics - furosemide (+ spironolactone)
ACE inhibitors - captopril
Digoxin
Adequate caloric intake
Surgical management:
Complete AVSD - corrective surgery, done at 3-6 months
What is the differential diagnosis of an ejection systolic murmur? Where are these murmurs heard the loudest?
Aortic stenosis heard at the aortic area (second intercostal space, right sternal border)
Pulmonary stenosis heard at the pulmonary area (second intercostal space, left sternal border)
Hypertrophic obstructive cardiomyopathy heart at the fourth intercostal space on the left sternal border
List the components of Tetralogy of Fallot
Ventricular septal defect
Pulmonary stenosis
Right ventricular hypertrophy
Overriding aorta
List risk factors for Tetralogy of Fallot
Male
FHx
Teratogens - alcohol, warfarin, trimethadione
Genetics - CHARGE syndrome, Di George syndrome
VACTERL association - vertebral anomalies, anorectal malformation, cardiac defects, tracheo-oesophageal fistula, renal anomalies, limb abnormalities
Associated with congenital diaphragmatic hernia
Describe the physiological consequences of Tetralogy of Fallot
VSD - left-to-right shunt if small (eventually increased right ventricular pressure can cause shunt reversal, development of cyanosis), if large pressures are equal, right-to-left shunt (due to right ventricular hypertrophy - see below) and will always be cyanotic
Pulmonary stenosis (or right ventricular outflow tract) - most commonly in infundibular septum, impairs flow of blood into main pulmonary artery, can cause intermittent obstruction which manifests as hypoxic episodes
Hight pressures in right ventricle (due to shunt and outflow obstruction) lead to right ventricular hypertrophy = ‘boot-shaped’ heart
Overriding aorta - dilated and displaced due to increased blood flow as recieving blood from both ventricles
May form multiple aorto-pulomnary collateral arteries to increase pulmonary blood flow
Most of blood in aorta is deoxygenated due to position of aorta, pulmonary valve stenosis and right ventricular hypertrophy = cyanotic
Which congenital heart defects are most commonly seen in Turner’s syndrome?
Bicuspid aortic valve
(then coarctation of the aorta)
Describe the clinical presentation of Tetralogy of Fallot
Dependent on severity
Mild - usually asymptomatic initially, progresses with age, develop cyanosis by age 1-3
Moderate-severe - present in first few weeks of life with cyanosis and respiratory distress, recurrent chest infection and fail to thrive
Extreme - TOF with pulmonary atresia or absent pulmonary valves, flow of blood into lungs is dependent on patent ductus arteriosus
Signs:
Central cyanosis, clubbing
Thrill or heave
Ejection systolic murmur - pulmonary stenosis
Tet spells - hypoxic, cyanosis, irritability, paroysm of hypernoea
Squatting - helps increase venous return, occurs during tet spell
How is Tetralogy of Fallot managed?
During tet spells:
Squat/knees to chest - increase venous return
Oxygen
Beta blockers - relax right ventricle, improve flow to pulmonary vessels
IV fluids - increase pre-load
Morphine - decrease respiratory rate to allow more effective breathing
Prostaglandin infusion - maintain a patent ductus arteriosus, started urgently following delivery
Definitive treatment - surgical repair
RVOT stenosis resection, RVOT/pulmonary artery augmentation, VSD patch closure
Usually not performed until at least 3 months old, may need some surgery prior to buy time (e.g. RVOT stent)
List potential complications of Tetralogy of Fallot
Polycythaemia
Cerebral abscess
Stroke
Infective endocarditis
Congestive cardiac failure
Death - up to 25% in 1st year of life
Even post-surgery - pulmonary regurgitation, arrhythmia, exercise intolerance, sudden death
Describe the structural features of transposition of the great arteries and the physiological consequences of these
Aorta arises from RV, pulmonary artery arises from LV
Two separate parallel circulations - systemic and pulmonary
In utero blood is oxygenated by placenta so don’t need blood flow to lungs
After birth when ductus arteriosus closes baby will be profoundly hypoxic and therefore cyanotic with lactic acidosis and death occurring quickly
Often associated with ventricular septal defect or patent ductus arteriosus - this allows mixing and prevents profound cyanosis, but if closes then cyanosis will occur
Describe the clinical presentation of transposition of the great arteries
Often identified on antenatal scans
Cyanosis if no mixing
If patent ductus arteriosus/ventricular septal defect will initially be asymptomatic then develop cyanosis, respiratory distress, tachycardia, poor feeding, poor weight gain, sweating in first weeks of life
Right ventricular heave
Systolic murmur if VSD
How is transposition of the great arteries managed?
Prostaglandin infusion at birth - maintain ductus arteriosus
Emergency atrial balloon septostomy - create ASD to allow mixing
Definitive - surgical correction with arterial switch, performed <4 weeks
What is the key risk factor for patent ductus arteriosus?
Prematurity
Describe the pathophysiology of symptoms in patent ductus arteriosus
Pressure higher in aorta than pulmonary vessels, left-to-right shunt
Causes pulmonary hypertension, leading to right sided heart strain and right ventricular hypertrophy
Blood also flows back through pulmonary vein to left side of heart –> left ventricular hypertrophy
Describe the clinical presentation of patent ductus arteriosus
Small - asymptomatic
Moderate - congestive heart failure with failure to thrive (poor feeding)
Large - poor feeding, severe failure to thrive, recurrent LRTI
Murmur = continuous crescendo-decrescendo ‘machinery’ murmur
How is patent ductus arteriosus managed?
If premature - good chance spontaneous closure
Indomethacin (/ibuprofen) - inhibits prostaglandins to cause closure
Surgical - catheter closure or PDA ligation
What are the physiological consequences of tricuspid atresia?
Absence of tricuspid valve - absence of inflow into the right ventricle –> hypoplastic right ventricle
Always inter-atrial communication to allow systemic venous return out of heart via left atrium/ventricle
70% have VSD present - decreased pulmonary blood flow
30% great arteries transposed - pulmonary over-circulation, poorsystemic perfusion
Associated with coarctation of the aorta or interrupted aortic arch
Causes progressive cyanosis, heart failure
How is tricuspid atresia managed?
Prostaglandin infusion - prevent PDA closure
Balloon atrial septostomy - enlarge inter-atrial communication
Creation of Fontan circulation - passive flow of systemic blood to lungs, bypassing heart, univentricular system
Describe the consequences of pulmonary atresia
Reduced pulmonary blood flow - cyanosis, poor feeding, failure to thrive
How is pulmonary atresia managed?
Prostaglandin infusion - stop PDA closure
Surgical management - create Fontan circulation
Which congenital heart defects are most commonly associated with Down’s syndrome? How common are these?
Occur in 1/3 - 1/2
Commonest:
Complete atrioventricular septal defect
Ventricular septal defect
Atrial septal defect
Others:
Tetralogy
Patent ductus arteriosus
What is the most common congenital heart defect associated with Noonan syndrome?
Pulmonary stenosis
List genetic conditions associated with congenital heart disease
Chromosomal:
Down’s syndrome
Trisomy 18/13
Turner’s syndrome
Cri du chat syndrome
DiGeorge syndrome
Single gene:
Marfan syndrome
Noonan syndrome
Others:
William’s
VACTERL association
List common causes of cardiac failure in children
Cardiac:
Neonatal - PDA, hypoplastic left heart syndrome, coarctation of the aorta, cardiomyopathy, critical aortic stenosis
Infant - VSD, ASD, cardiomyopathy
Child - cardiomyopathy, failing complex congenital heart disease
Stress - fever, hypoxia, infection, acidosis
Anaemia
Fluid overload
List causes of cyanosis in children
Respiratory disease
Cardiac
Neonatal: transposition of the great arteries (TGA), persistent
pulmonary hypertension of the newborn (PPHN), pulmonary atresia,
hypoplastic left heart syndrome (HLHS)
Infancy: tetralogy of Fallot
Child: pulmonary hypertension
During a seizure
Stress: infection, hypoglycaemia, adrenal crises
CNS depression: drugs, trauma, asphyxia
Describe the clinical presentation of heart failure in children
Infants:
Poor feeding
Failure to thrive
Tachypnoea
Sweating
Older children:
SOB
Easy fatigability
Oedema
Left-sided failure
Tachypnoea
Orthopnoea
Wheeze
Pulmonary oedema
Right-sided failure
Hepatomegaly
Oedema
Raised JVP
Describe the pathophysiology of infective endocarditis
Endothelial damage, platelet adhesion, microbial adherence
Structural damage to heart (e.g. congenital heart disease, acquired heart disease), prosthetic material
Bacteraemia - circulating bacteria adhere to lesion in heart and invade underlying tissue
Form a biofilm
Which pathogens most commonly cause infective endocarditis in children?
Alpha-haemolytic streptococci - strep viridans
Staph aureus
Coagulase-negative staph
Describe the clinical presentation of infective endocarditis
Persistent low-grade fever
New/change in murmur
Splenomegally
Cutaneous manifestations uncommon but can be - petechiae, Osler’s nodes, Janeway lesions, splinter haemorrhages
Other embolic phenomena - pulmonary emboli, stroke/seizures, retinal haemorrhages
Immunologic phenomena - glomerulonephritis, Osler’s nodes, Roth spots
How should suspected infective endocarditis be investigated?
Blood cultures
ECHO
Describe the diagnostic criteria for infective endocarditis
Duke’s criteria -
Two major
One major and three minor
Five minor
How is infective endocarditis managed?
IV antibiotics +/- surgical management (repair/replace valve)
Indications for surgical management:
Large/highly mobile vegetation
Embolic event after medical management started
Aortic/motral insufficiency with signs of ventricular failure
Heart failure unresponsive to medical management
Valve perforation and rupture
New onset heart block
Large abscess
Is prophylaxis against infective endocarditis recommended?
NICE does not currently recommend the use of prophylactic antibiotics against endocarditis while patients undergo dental procedures, or procedures affecting the gastrointestinal, genitourinary or respiratory tracts
If undergo a procedure and require antibiotics for suspected infection as a complication of this should be given antibiotics with cover for IE
Describe the pathophysiology of acute rheumatic fever
Occurs 2-4 weeks after infection with group A beta-haemolytic strep (typically strep pyogenes tonsillitis)
Cross-reactivity of antibodies against strep against other tissues e.g. heart, brain, joints, skin causing systemic inflammation (type 2 hypersensitivity reaction)
Describe the clinical presentation of acute rheumatic fever
2-4 post-strep infection e.g. tonsillitis
Fever
Joint pain - migratory arthritis affecting large joints
Heart involvement - carditis (pericarditis, myocarditis, endocarditis), tachycardia/bradycardia, murmurs (typically mitral involvement), pericardial rub, heart failure
Dermatological - erythema marginatum, subcutaneous nodules
Neurological - chorea (Sydenham chorea)
Raised CRP/ESR
How is rheumatic fever diagnosed?
Throat swabs for bacterial culture
CRP/ESR - raised
Anti-streptococcal antibody titres - can show which stage of infection if they are rising or falling
Heart involvement - echo, ECG (prolonged PR), CXR
Jones criteria - two major or one major plus two minor
Major - SPECS
Sydenham’s chorea
Polyarthritis
Erythema marginatum
Carditis
Subcutaneous nodules
Minor - CAPE
CRP or ESR
Arthralgia
Pyrexia/fever
ECG - prolonged PR
How is acute rheumatic fever managed?
Treat streptococcal infections with antibiotics to prevent - strep tonsillitis give penicillin V for 10
Aspirin/NSAIDs
Assess for emergency valve replacement
Severe carditis - steroids, diuretics
What are the potential complications of acute rheumatic fever?
Chronic rheumatic heart disease - permanent damage to heart valves (mitral stenosis)
Recurrent rheumatic fever
Describe the pathophysiology and epidemiology of Kawasaki disease
Systemic medium-sized vessel vasculitis
Affects children <5, more common in Asian children (particularly Japanese and Korean)
More common in boys
Describe the clinical features and diagnosis of Kawasaki disease
American Heart Association diagnostic criteria:
Persistent high fever (above >39) for more than 5 days, plus at least 4/5 key features -
Bilateral conjunctival injection without exudate
Erythema and cracking of lips, strawberry tongue or erthema or oral and pharyngeal mucosa
Rash - maculopapular, erythroderma or erythema multiforme
Peripheral changes - erythema, oedema, and/or desquamation of the hands and feet
Cervical lymphadenopathy
Natural history - usually three phases:
Acute phase (1-2 weeks from fever onset) - high fever, irritability, rash, mucositis, peripheral erythema, oedema
Subacute phase (2-4 weeks from fever onset) - afebrile, most clinical features begin to resolve, desquamation of hands and feet, highest risk for developing cardiac complications
Convalescent phase (4-8 weeks from fever onset) - asymptomatic period, clinical features resolved, coronary artery aneurysms often improve but may get worse
How is Kawasaki disease managed?
Oral aspirin - reduces risk of coronary artery aneurysms and thrombosis, high dose given until fever has resolved for 48 hours, then low-dose aspirin for approximately 6 weeks (usually not given to under 16s due to risk of Reye’s syndrome but benefits outweigh risk)
IV immunoglobulin - reduces incidence of coronary artery aneurysm
How should children with suspected Kawasaki disease be investigated?
Baseline bloods including ESR/CRP
Echo essential - identify coronary artery aneurysms, valvular disease, serial echos to monitor disease progression
List the potential complications of Kawasaki disease
Coronary artery aneurysms - risk lower with early treatment
Myocarditis/pericarditis
Arrhythmias
Valvular disease
Coronary artery thrombosis/MI
Sudden cardiac death
List the most common malignancies in children
Leukaemia/Lymphoma
Brain tumours
Neuroblastoma
Wilm’s tumour
Bone tumours
Define idiopathic thrombocytopaenic purpura and describe its pathophysiology and epidemiology
Isolated thrombocytopaenia with normal bone marrow and absence of other causes of low platelets, which causes purpuric rash
Autoimmune disease - antibodies produced against platelets
Type II hypersensitivity reaction
Usually 1-5 years old
Describe the clinical presentation of ITP
History recent viral illness
Onset symptoms over 24-48 hours:
Bleeding - gums, epistaxis
Bruising
Petechial or purpuric rash - non-blanching
No systemic symptoms, otherwise well
How is ITP diagnosed?
Low platelet count <150 (often severely reduced e.g. <20)
RBC and WCC normal
Blood film normal
Normal megakaryocyte number (peripheral destruction of platelets, not clinically useful)
If atypical features or fails to resolve spontaneously - bone marrow aspirate
How is ITP managed?
General advice:
Careful observation, limit high observation activities where possible, avoid IM injections/LPs, NSAIDs/aspirin
Seek help after injuries which may cause internal bleeding
Platelet transfusion if bleeding - but destroyed by antibodies rapidly
IV immunoglobulins
Consider steroids - usually relapse when weaned/stopped, need to discuss with haematologist as may mask underlying malignancy if bone marrow aspirate not taken before starting
Consider splenectomy
List potential complications of ITP
Intracranial haemorrhage - rare
Chronic ITP - majority resolve, 80-90% by 6 months
Anaemia
GI bleeding
Describe the pathophysiology of Henoch Schonlein purpura
IgA mediated small vessel vasculitis
Describe the clinical presentation of Henoch-Schonlein purpura
Palpable purpuric rash (with localized oedema) over buttocks and extensor surfaces of arms and legs
Abdominal pain - can lead to GI haemorrhage, intussusception, bowel infarction
Polyarthritis - knees/ankles
Features of IgA nephropathy may occur e.g. haematuria, nephrotic syndrome, renal failure
How is Henoch-Schonlein purpura managed?
Supportive - simple analgesia, rest, hydration
Monitor for complications - renal function, urinalysis and BP, intussusception
Describe the differential diagnosis of bruising in children
Trauma:
Accidental injury - bony prominences, below knees, more common in summer
Non-accidental injury - physical abuse, self-inflicted injury
Haemostatic disorders:
Inherited coagulation disorders - haemophilia A/B, von Willebrand disease, deficiency of other clotting factors
Acquired - vitamin K deficiency, liver disease, DIC
Platelet disorders:
Increased destruction/consumption - immune (ITP, SLE), nonimmune (haemolytic uraemic syndrome, DIC)
Impaired platelet production - congenital (Fanconi anaemia), acquired (aplastic anaemia, marrow infiltration e.g. leukaemia)
Vascular disorders:
Congenital - Ehlers-Danlos, Marfan
Acquired - meningococcal, vasculitis (HSP, SLE)
Malignant:
Leukaemia
What causes anaemia in children?
Nutritional deficiency
Malabsorption - coeliac disease/IBD
Blood loss - Meckel diverticulum, inherited bleeding disorders (von Willebrand disease)
Red cell destruction - hereditary spherocytosis, G6PD deficiency, thalassaemias, sickle cell disease, haemolytic disease of the newborn, autoimmune haemolytic anaemia
Impaired red cell function - Fanconi anaemia, renal failure, chronic disease
List the most common leukaemias which affect children and describe their epidemiology
From most to least common:
Acute lymphoblastic leukaemia - peaks age 2-5, males > females
Acute myeloid leukaemia - peaks <2, M = F
Chronic myeloid leukaemia
Describe the clinical presentation of leukaemia in children
Anaemia - pallor, dyspnoea, fatigue
Thrombocytopaenia - bruising, petechiae, epistaxis
Leukopaenia - frequent infections
Bone pain, limp
Lymphadenopathy
Hepatosplenomegaly
Testicular enlargement
Non-specific symptoms of malignancy:
Weight loss
Malaise
Night sweats
Failure to thrive
How should a child with suspected leukaemia be investigated?
FBC
Blood film
Bone marrow aspirate
CXR - mediastinal mass
LP - check CNS involvement
List risk factors for leukaemia in children
Genetic conditions - Down’s syndrome, Klinefelter syndrome, Noonan syndrome, Fanconi’s anaemia
Ionising radiation
Li-Fraumeni syndrome
Myelodysplasia
How is leukaemia managed in children?
Chemotherapy - multi-drug, usually as part of trial
Supportive management:
Blood products (red cells, platelets)
Antibiotics - infections
If leukocytosis - hyperhydration to prevent hyperviscosity
Bone marrow transplant - if suboptimal response to chemotherapy or relapse of leukaemia
List the complications of chemotherapy in children
Stunted growth and development
Immunodeficiency and infections
Neurotoxicity
Infertility
Secondary malignancy
Cardiotoxicity
List poor prognostic indicators of leukaemia in children
Age <1, >10
Male
T cell lineage
WCC at presentation >50
Chromosomal abnormalities e.g. Philadelphia chromosome t(9, 22)
Failure to rapidly respond to induction chemotherapy
List risk factors for lymphoma
Epstein-Barr virus
Immunosuppression
Family history
H. Pylori - MALT lymphoma
Describe the clinical presentation of lymphoma
Visible or palpable lymphadenopathy - non-tender, rubbery
Pain in lymph nodes when drinking
Mediastinal lymphadenopathy - cough, wheeze, superior vena cava obstruction
B symptoms:
Fever
Weight loss
Night sweats
Describe the differential diagnosis of lymphadenopathy in children
Malignant:
Acute leukaemia - ALL, AML
Lymphoma
Hodgkin’s disease
Neuroblastoma
Rhabdomyosarcoma
Infectious:
Benign reactive lymph nodes - most common cause
Bacterial lymphadenitis e.g. staph, strep
Viral infection - CMV, adenovirus, VZV, HIV, rubella, viral URTIs
Cat scratch disease - Bartonella henselae
TB
Atypical mycobacterium
Autoimmune:
Kawasaki’s disease
Juvenile idiopathic arthritis
SLE
Sarcoidosis
Drug reactions
How is lymphoma diagnosed?
Lymph node biopsy - Reed-Sternberg cells (large abnormal B cells)
LDH often raised but non-specific
CT, MRI, PET - diagnosing and staging
Describe staging of lymphoma
Ann Arbor staging:
Stage 1: Confined to one region of lymph nodes
Stage 2: In more than one region but on the same side of the diaphragm (either above or below)
Stage 3: Affects lymph nodes both above and below the diaphragm
Stage 4: Widespread involvement including non-lymphatic organs such as the lungs or liver
A - no B symptoms
B - B symptoms (fever, weight loss, night sweats)
How is lymphoma managed?
Chemotherapy +/- radiotherapy
Mediastinal mass causing airway compromise - high dose steroids and airway support if required
Stenting of veins if superior vena cava obstruction
List features of lymphadenopathy suggestive for malignancy
Site: supraclavicular, epitrochlear nodes
Associated systemic symptoms
Hepatosplenomegaly
Other palpable masses
Signs of bone marrow infiltration i.e. anaemia/bruising/petechiae
List features of benign self-limiting causes of lymphadenopathy
Present since birth/long history
No progression
Small
No systemic symptoms
No risk factors for malignancy
Fluctuant/mobile
Tenderness - more likely to be infectious/inflammatory
No changes to overlying skin
Soft
Regular
Bilateral
Resolves spontaneously
Describe the genetic basis of haemophilia
X-linked recessive
Almost exclusively affects males
Affected father - no chance of passing on to son, 50% chance having carrier daughter
Mother carrier - 50% chance of having affected son, 50% chance of having carrier daughter
Describe the pathophysiology of haemophilia
Haemophilia - deficiency in factor VIII
Haemophilia B - deficiency in factor IX
Contribute to production of thrombin via the instrinsic pathway of the clotting cascade - insufficient production of fibrin for clot stabilisation
Describe the clinical presentation of haemophilia
Spontaneous haemorrhage - haemarthrosis most common (joint pain, swelling, reduced ROM)
Bleeding excessively in response to minor trauma - bruising, epistaxis, bleeding from gums, haematuria, GI, intracranial haemorrhage
Anaemia - pallor, SOB, fatigue
How is haemophilia diagnosed?
FBC - anaemia, all other components should be normal
Coagulation screen - APTT prolonged, PT normal
Factor VIII and IX concentrations
CT head if suspected intracranial bleed or joint imaging/aspiration in suspected haemorthrosis
How is haemophilia managed?
Mild-moderate disease - no prophylaxis required, treat bleeds when they occur with one-off infusion of IV factor VIII (or factor IX), desmopressin or antifibrinolytics e.g. tranexamic acid
May need prophylaxis for surgery/dental procedures
Prophylaxis if severe disease - regular IV infusions of relevant factor
Education - avoid contact sports, maintain good dental hygiene
List potential complications of haemophilia
Chronic arthropathy due to haemarthrosis
Develop factor VIII/IX inhibitors - antibodies against clotting factors (30%)
Transfusion-related complications - allergic reaction, acute haemolytic reaction, bacterial infection, transmission of blood borne virus
What is the most common inherited bleeding disorder?
Von Willebrand disease
Describe the presentation of Von Willebrand disease
Family history of heavy bleeding or Von Willebrand disease
Easy, prolonged or heavy bleeding
Bleeding gums
Epistaxis
Menorrhagia
Heavy bleeding during surgical operation
How is Von Wllebrand disease managed?
Management in response to major bleeding or trauma or in preparation for operations/dental procedures:
Desmopressin - stimulates release of VWF
VWF infusion
Factor VIII infusion
If menorrhagia:
Tranexamic acid
Mefenamic acid
Norethisterone
COCP
Coil
How does deafness present in babies and children?
Picked up on newborn hearing screening programme
Parental concerns about hearing
Behavioural changes associated with not being able to hear
Ignoring sounds/people speaking to them
Frustration or bad behaviour
Poor speech and language development
Poor school performance
Describe the hearing tests used in children
Newborn hearing screening programme - automated audiometry brainstem response test
Visual reinforcement audiometry
Play audiometry
Pure tone audiometry
List causes of deafness in childhood
Congenital:
Maternal rubella or CMV infection during pregnancy
Genetic deafness - autosomal recessive, non-syndromal usually e.g. Pendred syndrome (associated with thyroid dysfunction)
Syndromes e.g. Down’s syndrome
Perinatal:
Prematurity
Hypoxia
After birth:
Jaundice
Meningitis and encephalitis
Otitis media or otitis media with effusion
Ototoxic drugs - aminoglycosides
How is hearing loss in children managed?
MDT:
Speech and language therapy
Educational psychology
ENT specialist
Hearing aids for children who retain some hearing
Sign language
Describe the pathophysiology of Ehlers-Danlos syndromes
Genetic mutations in genes associated with collagen structure or function
Describe the types of Ehlers-Danlos syndrome and their clinical features
Hypermobile EDS - most common and least severe, joint hypermobility, soft and stretchy skin, can occur with POTS
Classical EDS - stretchy skin, severe joint hypermobility, joint pain and abnormal wound healing, risk of hernias, prolapse, mitral regurgitation, aortic root dilatation, autosomal dominant
Vascular EDS - severe, blood vessels fragile and prone to rupturing, autosomal dominant
Kyphoscoliotic EDS - poor tone as neonate/infant, kyphoscoliosis with growth, joint hypermobility, risk of rupture of mediu sized arteries, autosomal dominant inheritance
Describe the nutritional requirements of babies
Only need breastmilk for food/drink up to age of 6 months
By 6 months iron and zinc stores have diminished and nutritional requirements cannot be met by milk alone
Introduce complementary foods, usually semi-solid first, small quantities and increase child tolerates
Breast milk remains main source of nutrition
Introduce to new flavours, textures and develop fine and oromotor skills
Meals should contain an adequate amount of fat
Foods to avoid before 6 months:
Foods containing gluten
Eggs, fish, liver, shellfish
Nuts and seeds
Cow’s milk and soft/unpasteurised cheeses
Food to avoid before 1 year:
Honey - risk of botulism
Potentially allergenic foods (?)
Should have health start vitamins from 6 months (unless having >500ml infant formula) until 4 years
More vitamins for children with dark skin (vitamin D), limited intake of solids
Describe the benefits of breastfeeding for mother and baby and the risks of not breastfeeding
Baby:
Reduced gut infection
Reduced respiratory infection
Reduced ear infection
Reduced cardiovascular disease
Reduced autoimmune condition
Reduced SIDS
Improved cognitive ability
Mother:
Reduced breast cancer
Reduced ovarian cancer
Reduced diabetes
Possibly reduced postnatal depression
Formula:
Increase risk of overfeeding, SIDS, obesity
Describe the characteristics of formula milk
Infant formula - 2 main types:
Whey dominant - closer to breast milk
Casein dominant - closer cows milk
Follow milk:
Intended for use from 6 months
Higher in iron and some vitamins and minerals than standard infant formula, but these should be supplied by solid diet
Specialised formulae:
Only used by non-breast fed infants with specific medical conditions
Under care of Paediatric dietitian e.g. intolerance/allergy, preterm/weight faltering, enteropathy
List causes of hepatomegaly in children
Infection: viral, bacterial fungal, parasitic
Autoimmune hepatitis
Congestive cardiac failure
Infiltration: primary and secondary (e.g. neuroblastoma) tumours
Storage: Fat - cystic fibrosis, glycogen storage diseases
Biliary obstruction - biliary atresia
Idiopathic
List causes of splenomegaly in children
Infection: EBV, malaria, CMV, bacterial sepsis, HIV
Haematological: haemolytic anaemias, hereditary spherocytosis, sickle cell (reduces over time).
Extramedullary haemopoesis: thallassaemia
Portal Hypertension
Neoplastic - leukaemia, lymphoma, metastaes
Transient splenomegaly - acute blood loss, haemodilution, infections
List causes of hepatosplenomegaly in children
Infection: EBV, CMV
Portal Hypertension
Infiltration: leukaemia, lymphoma
Haematological: e.g. thalassaemia
Idiopathic
Why is reflux common in babies?
Immaturity of the lower oesophageal sphincter, allowing stomach contents to easily reflux into the oesophagus
Short, narrow oesophagus
Delayed gastric emptying
Liquid diet and high calorie requirement
Spend significant periods recumbent
Describe the clinical presentation of problematic reflux in children
Chronic cough
Hoarse cry
Distress, crying or unsettled after feeding - back-arching, unusual neck postures
Reluctance to feed
Pneumonia
Poor weight gain
List risk factors for reflux in children
Prematurity
History of congenital diaphragmatic hernia or oesophageal atresia
Obesity
How is reflux in children managed?
Effortless regurgitation in otherwise well infants - no intervention necessary, reassurance
If breastfed with frequent regurgitation causing distress - use alginate (e.g. Gaviscon) mixed with water immediately after feeds
If formula-fed with frequent regurgitation causing marked distress - step-wise approach:
Ensure infant is not over-fed - no more than 150ml/kg/day total
Decrease feed volume by increasing frequency
Use feed thickener (or pre-thickened formula)
Stop thickener and start alginate added to formula
Either - no improvement with alginate then start PPI or histamine antagonist (omeprazole or ranitidine)
What is Sandifer’s syndrome?
Brief episodes of abnormal movements associated with GORD in infants, neurologically normal:
Torticolis
Dystonia - twisting, arching of back, unusual postures
List causes of vomiting in children
Overfeeding
Gastro-oesophageal reflux
Pyloric stenosis (projective vomiting)
Gastritis or gastroenteritis
Appendicitis
Infections such as UTI, tonsillitis or meningitis
Intestinal obstruction
Bulimia
List red flags for vomiting in children
Not keeping down any feed (pyloric stenosis or intestinal obstruction)
Projectile or forceful vomiting (pyloric stenosis or intestinal obstruction)
Bile stained vomit (intestinal obstruction)
Haematemesis or melaena (peptic ulcer, oesophagitis or varices)
Abdominal distention (intestinal obstruction)
Reduced consciousness, bulging fontanelle or neurological signs (meningitis or raised intracranial pressure)
Respiratory symptoms (aspiration and infection)
Blood in the stools (gastroenteritis or cows milk protein allergy)
Signs of infection (pneumonia, UTI, tonsillitis, otitis or meningitis)
Rash, angioedema and other signs of allergy (cows milk protein allergy)
Apnoeas are a concerning feature and may indicate serious underlying pathology and need urgent assessment
Describe the normal range of stool frequency in children
4x day in first week of lifer to two per day at age 1
Normal adult range (3 per day to 3 per week) is usually attained by age 4
List causes of constipation and risk factors for constipation in children
Most commonly idiopathic/functional - inadequate fluid intake, reduced fibre intake, toilet training issues, sedentary lifestyle, changes to diet/lifestyle (e.g. weaning, toilet training, starting school)
Psychosocial - difficult home/school environment, sexual abuse (keep safeguarding in mind)
Organic causes - Hirschprung’s disease, spinal cord lesions, cystic fibrosis, hypothyroidism, intestinal obstruction, anorectal malformations, cows milk intolerance
More common in impaired mobility (e.g. cerebral palsy) and neuroevelopmental disorders (e.g. Down’s, ASD)
Medications - opioids, sedating antihistamines
What are the red flags for constipation in children?
Constipation from birth or during first few weeks of life - Hirschprung’s
Delayed passage of meconium - Hirschprung’s, cystic fibrosis
Abdominal distension with vomiting - Hirschprung’s or intestinal obstruction
Abnormal appearance of anus
Neurological signs or symptoms
Ribbon stool - anal stenosis
Abnormal lower back/buttocks - spina bifida, sacral agensis
Failure to thrive - coeliac, hypothyroidism, safeguarding
Acute severe abdominal pain and bloating - obstruction or intussuception
Concern of possible child maltreatment
How is constipation in children managed?
Mostly idiopathic:
Correct reversible factors
High fibre diet and good hydration
Start laxatives - movicol first line, lactulose second line (osmotic laxatives), stimulant (e.g. Senna) if unresponsive
Faecal impaction - disimpaction regimen with initially high doses of laxatives
Behavioural - schedule toilet visits, bowel diary, start charts
Describe the complications of constipation in children
Desensitisation of the rectum, leads to faecal impaction which worsens desensitisation
Anal fissures
Haemorrhoids
Overflow and soiling
Rectal prolapse
When is encopresis considered pathological?
> 4 years old
List causes of encopresis
Usually due to chronic constipation - overflow leak of stool secondary to faecal impaction and rectal desensitisation
Other causes:
Spina bifida
Hirschprung’s disease
Cerebral palsy
Learning disability
Psychosocial stress
Abuse
Describe the clinical features of functional abdominal pain in children
Periumbilical or multiple sites affected
Associated with headaches and nausea
Not associated with vomiting, GI bleeding, weight loss, diarrhoea, waking at night
Pain on morning wakening which improves in the afternoon and becomes severe again prior to bedtime
School absenteeism
Associated with anxiety, bereavement, parental illness, financial problems, unemployment, relationship issues
Location dependent - in school, while at medical appointments
Look well, growing normally
Distractible tenderness
Define gastroenteritis and describe the most common causes
Transient disorder due to enteric infection with viruses, bacteria or parasites
Characterised by sudden onset of diarrhoea, with or without vomiting, nausea, fever, abdominal pain
Causes:
Most commonly viral - rotavirus (most common cause in children), norovirus (commonest cause across all ages), adenovirus
Bacterial - campylobacter (most common bacerial cause), E. Coli, shigella, salmonella
Describe the discreet clinical features associated with different pathogenic causes of gastroenteritis
Viral:
Rotavirus - vomiting and watery diarrhoea, may have fever, abdominal pain, vomiting settles first (1-3 days) then diarrhoea (5-7), but can last up to 2 weeks
Norovirus - nausea, projectile vomiting and watery diarrhoea, may have fever, headache, abdominal pain, myalgia, most people fully recover in 1-2 days
Bacterial:
Campylobacter - diarrhoea (may be bloody), nausea, vomiting, abdominal cramps, fever, most cases resolve within 1 week, mostly self-limiting in 2-3 days
E. Coli O157 (Shiga-toxin producing) - abdominal cramps, bloody diarrhoea, vomiting, causes haemolytic uraemic syndrome (HUS), usually resolves in 10 days
Shigella - bloody diarrhoea, abdominal cramps, fever, can cause HUS, resolves within 5-7 days
List signs of dehydration in children
Altered consciousness - irritable, lethargic
Decreased urine output
Sunken eyes
Dry mucous membranes
Tachycardia
Reduced skin turgor
Shock:
Decreased consciousness
Pale/mottled skin
Cold extremities
Tachycardia
Tachypnoea
Prolonged CRT
Hypotension (late sign)
How should gastroenteritis be investigated in children?
Stool sample to microbiology if:
Septicaemia suspected
Blood and/or mucus in stool
Immunocompromised
Measure U&Es/glucose if:
Giving IV fluids
Symptoms/signs of hypernatraemia - jittery, increased muscle tone, hyperreflexia, convulsions, drowsiness, coma
How is gastroenteritis in children managed?
Immediate:
If not clinically dehydrated -
Continue breast feeding/other milk feeds
Encourage fluid intake
Offer oral rehydration salt solution (ORS)as supplemental fluid to those at risk of dehydration
If dehydrated -
IV fluids if - shocked, red flag symptoms, persistent dehydration with oral rehydration, persistent vomiting with oral/NG fluids
ORS if no indication for IV fluids, frequently in small amounts (e.g. 5ml every 5 minutes)
Consider NG tube if refusing oral fluids
Following rehydration:
Slowly re-introduce solid food
Advice on hand washing and avoiding sharing towels
Do not return to school/nursery until 48 hours after last episode of diarrhoea/vomiting
List potential complications of gastroenteritis in children
Haemolytic uraemic syndrome - E. Coli O157, Shigella
Acute renal failure
Haemolytic anaemia
Reactive complications - arthritis, carditis, urticaria, urethritis, erythema nodosum, conjunctivitis
Toxic megacolon
Acquired/secondary lactose intolerance:
Bloating, abdominal pain, wind and watery stools after drinking milk
Due to lining of intestine being damaged, resolves when gut heals
Describe the differences between ulcerative colitis and Crohn’s disease
Smoking increases risk of Crohn’s, decreases risk of UC and symptoms improve with smoking
Crohn’s - colicky abdominal pain and diarrhoea, less common to have blood/mucus
UC - PR bleeding and mucus, increased frequency and urgency of defecation, tenesmus, diarrhoea
Describe the extra-intestinal manifestations of inflammatory bowel disease
Finger-clubbing
Erythema nodosum
Pyoderma gangrenosum
Episcleritis and iritis
Inflammatory arthritis
Primary sclerosing cholangitis (UC)
List risk factors for IBD in children
Family history of IBD
Family history of autoimmune conditions
Parental smoking
Bottle feeding
Peri-anal signs
How is IBD diagnosed in children?
Blood tests - anaemia, infection, thyroid, kidney and liver function
Faecal calprotectin - useful for screening
OGD/colonoscopy with biopsy is gold standard for diagnosis
Imaging (US, CT, MRI) for complications e.g. fistulas, abscesses, strictures
How is IBD managed in children?
Monitor growth and pubertal development - especially when treating with steroids
Dietician input
Induce and maintain remission -
Crohn’s:
Induce - steroids first-line
Other options - azathioprine, mercaptopurine, methotrexate, infliximab, adalimumab
Maintain - azathioprine, mercaptoprurine first-line
Other options - methotrexate, infliximab, adalimumab
UC:
Induce - aminosalicylate (e.g. masalazine) first line for mild/moderate, IV steroids for severe
Steroids second line for mild/moderate, IV ciclosporin second line for severe
Maintain - aminosalicylate, azaioprine, mercaptopurine
Surgery:
For complications or disease unresponsive to medical management
List conditions associated with coeliac disease
Autoimmune diseases - type 1 diabetes, thyroid disease, rheumatoid arthritis, Addison’s disease
Down’s syndrome
Turner’s syndrome
Describe the pathophysiology of coeliac disease
Genetic predisposition (HLA-DQ2/8) + environmental factor
Autoantibodies created in response to exposure to gluten (gliadin), target the epithelial cells of the intestine and lead to inflammation
Autoantibodies - anti-tissue transglutaminase (anti-TTG) and anti-endomysial (anti-EMA)
Affects small intestine, particularly jejunum, causing atrophy of intestinal villi
T-cell-mediated inflammation
Describe the clinical presentation of coeliac disease in children
Often asymptomatic
Typically from introduction of gluten, 6-9 months
Failure to thrive
Diarrhoea - pale, bulky stool
Distended abdomen
Fatigue
Weight loss
Mouth ulcers
Anaemia - iron, B12 or folate deficiency
Dermatitis herpetiformis
Neurological symptoms - peripehral neuropathy, epilepsy, ataxia
How is coeliac disease diagnosed?
Must be on diet containing gluten
Check total immunoglobulin A levels (if these are low antibodies may be falsely low, need to test IgG antibodies)
Antibodies raised
Anti-TTG (first line)
Anti-EMA
Endoscopy + biopsy - when serology positive, gold-standard diagnosis
Crypt hypertrophy
Inflammatory cells
Villous atrophy
How is coeliac disease managed?
Life-long gluten free diet
If deficient - iron, B12 etc.
Annual follow-up to check for symptoms, diet compliance, development/growth and long-term complications
List potential complications of coeliac disease
Anaemia
Osteopenia/ osteoporosis
Refractory coeliac disease( symptoms persist despite diet, my need treatment with steroids)
Malignancy - enteropathy-associated T-cell lymphoma, Non-Hodgkin lymphoma, small bowel adenocarcinoma
Fertility problems/ adverse events during pregnancy
Depression/anxiety
Describe the pathophysiology and epidemiology of Cow’s milk protein allergy
Immune-mediated allergic response to milk proteins casein and whey
Can be IgE mediated (type-I hypersensitivity) or non-IgE mediated
Largely occurs in formula-fed infants, highest prevalence in first year of life
Associated with personal or family history of atopy
Describe the presentation of cow’s milk protein allergy
Usually <1
Can be when weaned from breastmilk to formula milk or food containing cow’s milk
GI symptoms - bloating and wind, abdominal pain, diarrhoea, vomiting
Allergic symptoms - urticaria, angioedema, cough, wheeze sneezing, watery eyes, eczema (more allergic symptoms in IgE mediated)
Rarely anaphylaxis
Faltering growth/failure to thrive
How is Cow’s milk protein allergy diagnosed?
Clinical diagnosis
Skin prick testing can aid diagnosis if unsure
Can also test for IgE antibodies in serum (RAST-radioallergosorbent test), low specificity
How is Cow’s milk protein allergy managed?
Avoidance of cow’s milk in all forms, including in mother’s diet if she is breastfeeding
Elimination diet for at least 6 months or until infant is 9-12 months old, re-evalulation every 6-12 months to assess for tolerance to cow’s milk protein
If formula-fed - replace with hypoallergenic formula, either extensively hydrolysed (first-line) or amino acid formula
Monitor growth and nutritional status
What are the potential complications of cow’s milk protein allergy?
Malabsorption/reduced intake - IDA, faltering growth
Anaphylaxis - rare
Most patients become tolerant by early childhood
List the most common causes of acute diarrhoea in children
Infection - rota and enterovirus, E coli, salmonella, campylobacter
Staphylococcal toxin in food poisoning
Response to infection e.g. pneumonia
Starvation stools (watery, green mucous) - after having only fluids for a few days
Surgical - intussusception, pelvic appendicitis, Hirschprung’s
List the most common causes of chronic diarrhoea in children
Toddler’s diarrhoea - loose stools in otherwise healthy, thriving child
Constipation with overflow
Post infectious food intolerance (e.g. lactose)
Inflammatory bowel disease
Malabsorption e.g. CF, coeliac
How should chronic diarrhoea in a chld be investigated?
Stool – culture and sensitivity, c.diff toxin, virology
Bloods – FBC, CRP, LFTs, ESR
Serum TTG
Faecal calprotectin
Peri-anal inspection
List causes of malabsorption in children
Cystic fibrosis
Pancreatic insufficiency
Lactose intolerance/Cow’s milk protein allergy
IBD
Coeliac
Biliary atresia
List the most common causes of haematemesis in children
Swallowed blood (from cracked nipple in breastfeeding neonate, to
epistaxis in child)
Repeated vomiting, acute gastritis
Ulceration - hiatus hernia, drugs (aspirin, iron ingestion), peptic ulcer
Bleeding disorders
Very rarely oesophageal varices
List the most common causes of rectal bleeding in children
Local - anal fissure
Swallowed blood from epistaxis
Gastroenteritis (more likely bacterial cause)
Acid ulceration: hiatus hernia, peptic ulcer, Meckel’s diverticulum
Intussusception (late sign in approx 50% of cases)
Inflammatory bowel disease
Describe the presentation of hepatitis in children
Can be asymptomatic
Acute - flu-like symptoms, jaundice, fever, nausea/vomiting, anorexia, abdominal pain, diarrhoea, pale stools/dark urine, pruritus
List common medical and surgical causes of abdominal pain in children
Medical:
Infection - gastroenteritis, mesenteric adenitis, lower lobe pneumonia, UTI,
acute hepatitis
Constipation
Henoch-Schonlein purpura
Acute nephritis
Rare but important - DKA, sickle cell crisis, iron/ lead poisoning
Surgical:
Acute appendicitis
Intussuception
Volvulus
Strangulated inguinal hernia
Torsion of testis/ovary
How are maintenance fluid volumes calculated in children?
Per day:
100ml/kg for first 10kg of weight
50ml/kg for next 10kg
20ml/kg for any weight over 20kg
Per hour:
4ml/kg for first 10kg
2ml/kg for next 10kg
1ml/kg for weight over 20kg
How are rehydration fluids volumes calculated in children?
Define % dehydration based on clinical signs:
5% (mild, 50ml/kg) - lethargic, loss of skin turgor, dry mouth, fontanelle slack
10% (moderate, 100ml/kg) - tachycardia, tachypnoea, fontanelle and eyes sunken, mottled skin, oliguria
15% (severe, 150ml/kg) - shock, coma, hypotension
Fluid deficit = % dehydration x weight (kg) x 10
Total fluid requirement - percentage dehydration plus maintenance plus ongoing losses from vomiting/diarrhoea
Describe IV fluid resuscitation in children
Bolus of 0.9% sodium chloride with no additives, 10ml/kg over less than 10 minutes
Smaller bolus if renal/cardiac failure, DKA, neonatal
Which fluids are used for maintenance/rehydration in children?
Usually 0.9% sodium chloride + 5% glucose
If ongoing losses (diarrhoea, vomiting) supplement with potassium
Monitor U&Es and plasma glucose at least every 24 hours, more frequently if there are electrolyte abnormalities
Describe the requirements for basic electrolytes in children
Sodium 2-4mmol/kg/day
Chloride 2-4mmol/kg/day
Potassium 1-2 mmol/kg/day
List causes of intestinal obstruction in children
Meconium ileus
Hirschsprung’s disease
Oesophageal atresia
Duodenal atresia
Intussusception
Imperforate anus
Malrotation of the intestines with a volvulus
Strangulated hernia
Describe the presentation of intestinal obstruction in children
Persistent vomiting - may be bilious
Abdominal pain and distension
Failure to pass stools or wind
Abnormal bowel sounds - high-pitched tinkling then absent
How should suspected bowel obstruction in children be investigated?
AXR - dilated loops of bowel proximal and collapsed distal
Describe the initial management of intestinal obstruction
Nil be mouth
NG tube
IV fluids
–> Definitive management of cause
Define testicular torsion and describe the risk factors
Twisting of either the spermatic cord within tunica vaginalis (intra-vaginal torsion) or entire testis and tunica vaginalis (extra-vaginal)
Two peaks - neonates and teenage boys
Neonates - attachment of tunica vaginalis not fully formed, tends to be extra-vaginal
Teenage (13-15 is peak) - intra-vaginal
Bell-clapper deformity - horizontal lie of testis, not fixed posteriorly to tunica vaginalis, increased risk of torsion
Previous torsion - recurrence common
Cryptorchidism
Describe the presentation of testicular torsion
Sudden onset severe unilateral testicular pain (may be abdominal)
Associated with nausea and vomiting
On examination:
High, horizontal lie
Enlarged
Erythematous
Hard
Marked tenderness
Absent cremasteric reflex
Prehn’s sign negative
List the differential diagnoses for testicular torsion and describe their features
Torsion of Hydatid or Morgagni - younger, less erythematous, normal lie, blue dot sign
Acute epididymitis/epididymo-orchitis - older, sexually active, gradual onset, less severe, dysuria, positive Prehn’s
Idiopathic scrotal oedema - no pain or inflammation, bilateral
Hydrocele - painless swelling, transilluminates
What is the hydatid of Morgagni?
Remnant of the Mullerian duct, common testicular appendage
How is testicular torsion diagnosed?
Clinical diagnosis - any suspicion, send to theatre
If very unsure Doppler US - whirlpool sign
Urine dipstick if infection suspected
How is testicular torsion managed?
Surgical emergency - 4-6 hour window from onset of symptoms to salvage testis before significant ischaemic damage occurs
Strong analgesia and anti-emetics
NBM with maintenance fluids
Urgent surgical exploration of testis - if torsion, bilateral orchidopexy
May need orchidectomy if non-viable
Describe the pathophysiology of ovarian torsion
Ovary twists in relation to surrounding connective tissue, fallopian tube and blood supply
Usually due to ovarian mass >5cm (e.g. cyst or tumour), more likely with benign tumour
Can also occur in younger girls before menarche - longer infundibulo-pelvic ligaments
Twisting of blood supply leads to ischaemia –> necrosis
Describe the presentation of ovarian torsion
Sudden onset severe unilateral pelvic pain
Pain gets progressively worse
Associated with nausea and vomiting
Can cause intermittent pain - ovary twisting and untwisting itself
On examination - localised tenderness, palpable mass in pelvis
How is ovarian torsion diagnosed?
Pelvic ultrasound - whirlpool sign, free fluid in pelvis and oedematous ovary
Doppler - lack of blood flow
Definitive diagnosis - laparoscopic surgery
How is ovarian torsion managed? What are the potentiasl complications?
Emergency laparoscopic - detorsion or oophorectomy (if too ischaemic to be salvaged)
Usually fertility not affected if one ovary non-functioning
Necrotic ovary may become infected, develop and abscess and lead to sepsis
Can rupture leading to peritonitis and adhesions
Describe the clinical presentation of acute appendicitis
Symptoms:
Abdominal pain - initially central (poorly localised) and dull then migrates to right iliac fossa (well-localised), sharp
Progression of symptoms - vomiting, anorexia, nausea, diarrhoea, constipation
Signs:
Tenderness over McBurney’s point (1/3 from ASIS to umbilicus)
Rovsing’s sign - palpation of LIF causes pain in RIF
Psoas sign - RIF pain with right hip extension
Peritonism - rebound tenderness, percussion pain, guarding
Signs of sepsis
In children -
Can be atypical
Urinary symptoms
Left sided symptoms
How is appendicitis diagnosed?
Clinical features + raised inflammatory markers
USS - first-line in children
How is appendicitis managed?
Appendicectomy
?conservative management - active observation, antibiotics and fluid therapy
List potential complications of appendicitis
Perforation –> peritonitis –> sepsis
Pelvic abscess
Surgical complications:
Bleeding, infection, pain
Damage to bowel, bladder, etc.
Anaesthetic risks
VTE
Wound infection
Adhesions
Define intussusception and describe the aetiology and epidemiology
Full thickness invagination (or ‘telescoping’) of proximal bowel into its distal portion, causing bowel obstruction
Mostly no clear cause
Secondary causes - viral infection (e.g. rotavirus, enlarged Peyer’s patches)) Meckel’s diverticula, polyps, lymhpomas/leukaemias, HSP, cystic fibrosis
90% are ileo-colic - distal ileum passes into caecum through ileo-caecal valve
Epidemiology - peak incidence 5-10 months, boys > girls
Describe the clinical presentation of intussuception
Classical triad = intermittent, severe abdominal pain + vomiting + redcurrant stool
Episodes of sudden onset inconsolable crying episodes/abdominal pain if able to report
Normal between episodes
Pale, lethargic, unwell child
Draw up knees to chest
Red-currant stools - blood and mucus
RUQ mass on palpapation - ‘sausage shaped’
Vomiting
How is intussusception diagnosed?
USS - gold standard
Target/doughnut sign
AXR - less sensitive and specific
Distended small bowel loops
Absence of gas in distal bowel
Curvilinear outline of intussusception
How is intussusception managed?
IV fluid resuscitation
NG tube to decompress bowel
Non-operative:
Air or contrast enema used to reduce intussuscepted bowel
Contraindicated if evidence of perforation, peritonism or uncorrected shock
Surgical:
If enema contraindicated or unsuccessful
Manual reduction
Surgical resection if necrotic bowel
List potential complications of intussusception
Obstruction
Gangrenous bowel
Perforation
Dehydration and shock
Death
Describe the pathophysiology of Meckel’s diverticulum
Congenital malformation of the small bowel
Failure of the vitelline duct to obliterate during the 5th week of fetal development, leading to formation of intestinal blind pouch
Describe the clinical presentation of Meckel’s diverticulum
Mostly asymptomatic (silent)
If symptomatic, symptoms begin before age 2 -
Rectal bleeding - can be bright red or malaena
Absolute constipation
Presentation with complications – intestinal obstruction, volvulus, intussusception
Epigastric/umbilical pain
How is Meckel’s diverticulum diagnosed?
Technetium-99m scan (Meckel scan)
How is Meckel’s diverticulum managed?
Laparoscopic resection of diverticulum - diverticulotomy
If strangulation/perforation/obstruction may need small bowel resection
What is the rule of 2s for Meckel’s diverticulum?
Occurs in 2% of the population
2 feet from the IC valve
2 inches long
2 years is most common age at clinical presentation
2:1 male:female ratio
Define a hernia
Protrusion of viscus through a defect of the walls of its containing cavity
Describe the types of inguinal hernia and their pathophysiology
Indirect inguinal hernia most common in children – abdominal contents (bowel) protrude through the deep inguinal ring into the inguinal canal, and through the superficial inguinal ring into the groin
Due to incomplete closure of the processus vaginalis (outpouching of the peritoneum) after descent of testes/round ligament in utero
Direct inguinal hernia – more common in adults
Due to weakness of posterior wall of inguinal canal/increased intra-abdominal pressure, through Hesselbach’s triangle
List risk factors for inguinal hernias in children
Prematurity
Male sex
Family history
Describe the clinical presentation of inguinal hernias in children
Groin swelling
Symptoms of bowel obstruction or strangulation – nausea/vomiting, constipation, abdominal pain
O/E
Inguinal/inguino-scrotal mass that you cannot ‘get above’
Reducible when lying flat
Does not transilluminate
Positive cough reflex
If strangulated – irreducible, tender, tense lump
How can indirect and direct inguinal hernias be differentiated?
Reduce and hold pressure over deep inguinal ring (mid-way between ASIS to pubic tubercle) – if indirect will remain reduced, if direct will not
How are inguinal hernias managed?
What are the potential complications?
Mesh repair is gold standard – open or laparoscopic
May need emergency management if irreducible to prevent bowel and testicular ischaemia
Complications –
Recurrence
Strangulation
Incarceration
Bowel obstruction
Describe the clinical presentation of volvulus
Same as obstruction –
Vomiting – green bilious
Abdominal distension
Diffuse abdominal pain
Absolute constipation
How is volvulus managed?
Conservative management – endoscopic decompression
Surgical management – laparotomy, Hartmann’s procedure (removal of rectosigmoid colon and formation of colostomy), ileocaecal resection or right hemicolectomy
Describe the presentation and management of umbilical hernias in children
Mostly asymptomatic, managed with simple observation until 5 years old, may then be repaired if still clinically present
Describe the presentation of hydrocele
Often noticed/increased with systemic illness
Swelling, blue hue, can get above it on examination
Transilluminates
Describe the aetiology and presentation of meconium ileus
Most often an early manifestation of cystic fibrosis - causes thick, sticky GI secretions
Failure to pass meconium in the first 24 hours of life
Signs of intestinal obstruction – bilious vomit, abdominal distension
Can progress cause to volvulus and/or perforation
How is meconium ileus managed?
If uncomplicated (no perforation, volvulus or atresia) can give one or more enema with radiographic contrast medium (e.g. gastrografin), sometimes with N-actylcysteine under fluoroscopy
If complicated or doesn’t resolve with enema – laparotomy, ileostomy with lavage of proximal and distal loops to liquefy and remove abnormal meconium
List risk factors for cryptorchidism
FHx
Low birth weight, small for gestational age
Preterm delivery
Endocrine disorders e.g. congenital adrenal hyperplasia
Disorders of sexual development
Maternal smoking
Previous inguinal hernia surgery
List potential complications of cryptorchidism
Infertility
Testicular cancer – 3x more common
Testicular torsion
Inguinal hernias
How is cryptorchidism managed?
If suspected disorder of sexual development, ambiguous genitalia or hypospadia – urgent paediatric assessment
If suspected bilateral undescended testes at 6-8 weeks – urgent paediatric referral to be seen within 2 weeks
If unilateral undescended testis at bith, re-examine at 6-8 weeks
If still undescended at 6-8 weeks, re-examine at 4-5 months
At 4-5 months (correct for gestational age) if still undescended refer to paediatric surgery/urology, to be seen by 6 months of age
If in scrotum but retractile, need annual follow-up and re-examination until after puberty, risk of them ascending
Examination under anaesthesia to locate testis
If palpable – open orchidopexy
If intra-abdominal – single or 2-stage (Fowler-Stephens) procedure
What is the differential diagnosis for bilious vomiting in an infant?
Always obstruction until proven otherwise
Volvulus
Malrotation
Intussusception
Meconium ileus
Duodenal atresia
Necrotising enterocolitis
How can the estimated weight of a child be calculated?
(Age + 4)/2
Describe the pathophysiology of neuroblastoma
Cancer derived from neural crest cells, typically arise from adrenal glands or abdominal sympathetic chain
Neural crest is derived from ectoderm and usually migrates through body to form a range of structures including the sympathetic nervous system and adrenal medulla
When migration is stalled neural crest cells have the potential to acquire mutations that eventually lead to neuroblastoma
Describe the clinical presentation of neuroblastoma
Often non-specific symptoms
Abdominal distension – can cross midline
Fatigue
Weight loss
Increased catecholamine secretion – sweating, agitation, hypertension, tachycardia
Metastases – bone pain, recurrent infections, ‘blueberry muffin’ rash due to seeding mets in dermis
Compression of sympathetic nervous system – urinary incontinence
How is neuroblastoma diagnosed?
Homovanillic acid and vanillymandelic acid in urine (products of catecholamine breakdown)
MIBG scan is definitive
List the most common malignant causes of abdominal masses in children
Neuroblastoma
Wilm’s tumour
Hepatoblastoma
Lymphoma
Germ cell tumour
Soft-tissue tumour
How are neuroblastomas managed?
<18 months – likely to regress, can monitor closely for a period before intervention required
If older or more aggressive disease – surgery +/- adjuvant chemo or radiotherapy
Immunotherapies emerging
List potential complications of neuroblastomas
Relapse
Opsoclonus-myoclonus ataxic syndrome – autoimmune reaction to proteins from neuroblast cells, cerebellar involvement causes opsoclonus, myoclonus and ataxia
Which conditions are Wilm’s tumours associated with?
Beckwith-Wiedemann syndrome
WAGR syndrome with aniridia, GU malformations, mental retardation
Hemihypertrophy
WT1 gene mutation on chromosome 11 (1/3 of cases)
Describe the clinical presentation of a Wilm’s tumour
Abdominal mass
Painless haematuria
Flank pain
Anorexia
Fever
20% have mets – lungs most commonly
How are Wilm’s tumours managed?
Nephrectomy
Chemo/radiotherapy
Describe referral of children with an unexplained abdominal mass
Referral for urgent paediatric review within 48 hours
What life-threatening complications are associated with treatment with chemotherapy?
How are these managed?
Neutropaenic sepsis – IV antibiotics
Tumour lysis syndrome – hyperuricaemia, hyperkalaemia, hypophosphataemia, hypocalcaemia
Can cause AKI, seizures, arrhythmias, death
Require monitoring via ECG, fluid balance, U&Es
Management – IV fluids (hyperhydration), xanthine oxidase inhibitor (e.g. allopurinol), management of hyperkalaemia, renal dialysis
Define passive and active immunisation
Passive – immunoglobulin given IV or SC, can be specific antibodies (e.g. VZIG)
Used if patient is unable to make the antibody themselves e.g. primary antibody deficiency, T-cell immune deficiencies, to avoid big inflammatory response in established severe disease
Active – foreign antigen stimulates a host immune response without causing infection, production of T and B cell memory
List the types of vaccines used to generate active immunity and give examples
Live attenuated – contain modified organisms that replicate but do not cause disease in individuals with normal immune system e.g. BCG, MMR, rotavirus, (live-attenuated) influenza, oral polio
Inactivated – contain inactivated whole organisms, or more commonly specific components/antigens (protein or polysaccharide) known to stimulate immune response e.g. inactivated polio, trivalent influenza, DTP, HPV, menB
Conjugate – link antigen to protein to induce response in children <2, e.g. haemophilus influenzae type B, menC, pneumococcal vaccine, ACWY meningococcal
List the contraindications to vaccination
All vaccines:
Confirmed anaphylactic reaction to previous dose of vaccine containing the same antigens
Confirmed anaphylactic reaction to another component contained in the relevant vaccine e.g. neomycin, streptomycin or polymyxin B (trace in some vaccines)
Egg allergy:
Yellow fever
Live vaccines:
Contraindicated in immunosuppressed/immunocompromised e.g. severe primary immunodeficiency, malignant disease treated with chemo/radiotherapy, solid organ transplant on immunosuppressant medicine, bone marrow transplant, high-dose systemic steroids, other immunosuppressive drugs, HIV-positive (BCG)
Describe the transmission, incubation period and infectivity period of measles
Spread through respiratory droplets or direct contact with nasal/throat secretions
Incubation period – 10 days
Infectious period – from 1-2 days before symptoms until 4 days after rash has appeared
Describe the clinical presentation of measles
Prodromal phase – 2-4 days
Fever >39
Cough
Conjunctivitis
Coryza
Diarrhoea
Koplik’s spots – red spots with blue/white centres on buccal mucosa, start 1-2 days before onset of rash
Erythematous maculopapular rash – starts behind ears, migrates to face and trunk then limbs
Associated with cervical lymphadenopathy and high fever
Rash lasts about 4 days
How is measles diagnosed?
Confirm diagnosis using serology – measles specific IgM/IgG serology
How is measles managed?
Usually self-limiting, symptoms resolve in around a week
Supportive management:
Rest, adequate fluid intake, antipyretics
Vitamin A?
Notifiable condition – inform local health protection
Don’t attend school/work for at least 4 days after rash has appeared and avoid contact with those who are susceptible
List the potential complications of measles
Otitis media
Pneumonia – pulmonary involvement of measles or bacterial superinfection
Tracheobronchitis
Convulsions
Encephalitis
Subacute sclerosing panencephalitis – rare degenerative disease of CNS, causing seizures and affecting motor, cognitive and behavioural function, occurs 5-10 years after initial exposure to virus
Sigh impairment – increased risk if vitamin A deficient
Describe the transmission, incubation period and infectivity period of chicken pox
Transmission – droplet or direct skin contact with vesicle fluid
Incubation period – 10-14 days, can be up to 21 days
Infectivity period – 2 days before until 5 days after rash
Describe the clinical presentation of chicken pox
Prodromal (2-4 days) – fever, malaise, myalgia, anorexia, headache, nausea
Rash – small erythematous macules on scalp, face, trunk and proximal, which develop into papules, vesicles and pustules, very itchy
Crusting of vesicles and pustules occurs within 5 days
How is chickenpox managed?
Hydration
Avoid scratching – risk of superimposed bacterial infection and scarring
Avoid pregnant women, neonates and immunocompromised
Symptom management – paracetamol, antihistamines, emollients, calamine lotion for itch
If adolescent/adult presents within 24 hours of rash onset can consider oral aciclovir
If high-risk – aciclovir, IV immunoglobulins
Notifiable disease
Do not return to school until all lesions are crusted over
List the potential complications of chickenpox and describe the patients who are at increased risk of complications
At risk – immunocompromised, neonates or older patients, pregnant women
Complications:
Dehydration
Secondary bacterial infection of lesions
Scarring
Viral pneumonia
Encephalitis
Reye’s syndrome – avoid aspirin
Shingles
Describe the transmission, incubation and infectivity period of mumps
Transmitted via respiratory droplets and saliva, highly infectious
Incubation period of 16-18 days
Infectivity period 1-2 days after parotid swelling, 9 days after
Describe the clinical presentation of mumps
15-20% asymptomatic
Prodrome – non-specific, flu-like symptoms including fever, headache, malaise, myalgia, anorexia
Parotitis, lasting 3-4 days, up to 10
How is mumps managed?
Self-limiting, recover within 1-2 weeks
Supportive management – simple analgesia, fluid intake, rest
Notifiable disease
Do not attend school for 5 days following development of parotitis
List the potential complications of mumps
Orchitis (or epididymo-orchitis)
Meningitis and encephalitis
Oophoritis
Sensorineural deafness – usually unilateral and transient
Pancreatitis
Nephritis
Meningitis
Arthritis
Thyroiditis
Describe the transmission, incubation period and infectivity period of parvovirus B19 (slapped cheek/Fifth’s disease)
Transmission via respiratory secretions
Incubation period 4-14 days
Infectivity period – no longer infectious once rash appears
Describe the clinical presentation of parvovirus B19
Prodrome – low-grade fever, general malaise
A few days later maculopapular spots on cheeks (giving slapped cheek appearance), fine rash extends to trunk and limbs
Rash fades to give a lacy appearance, lasting 2-30 days, heat or light can trigger recurrence e.g. hot bath, being in the sun
May have associated arthralgia/arthritis
List potential complications of parvovirus B19
Aplastic crisis in chronic haemolytic disease e.g. sickle cell, thalassaemia, immunocompromised
Hydrops fetalis if maternal infection <20 weeks
How is parvovirus B19 managed?
Supportive management
Describe the transmission, incubation period and infectivity period of rubella
Transmission via direct contact with infected person or droplet spread from respiratory secretions
Incubation period – 14-21 days
Infectivity period – 1-2 days before to 7 days after rash appears
Describe the clinical presentation of rubella
Prodrome – coryza, tender cervical lymphadenopathy
Development of fine maculopapular rash, starts on face then fades and spreads down trunk
Arthralgia
Palatal petechiae
What are the potential complications of rubella infection?
Encephalitis
Thrombocytopaenia
Congenital rubella syndrome – damage mostly if exposed during first 10 weeks of pregnancy
How is rubella managed?
Supportive management
Non-immune women should receive MMR vaccine pre- or post-pregnancy (not during as live vaccine)
What causes roseola infantosum?
Human herpes virus 6
Describe the transmission, incubation period and infectivity period of roseola infantum
Transmission via contact with saliva or respiratory droplets
Incubation period – 7-14 days
Infectivity period – until fever subsides
Describe the clinical presentation of roseola infantum
Sudden onset high fever with mild coryza, no other physical findings
On day 3-4 fever resolves and maculopapular rash appears on trunk and limbs, lasts for 1-2 days
What are the potential complications of roseola infantum?
One of the commonest causes of febrile convulsions in the 6-18 months old age group, usually on first day of illness
How is roseola infantum managed?
Supportive management
Describe the transmission, incubation period and infectivity period of pertussis
Spread via respiratory droplets
Incubation period – 7-14 days
Infectivity period – while coughing, greatest risk during catarrhal phase
Describe the aetiology of meningitis in children
Most commonly viral – enterovirus, herpes simplex (causes meningoencephalitis)
Can also be bacterial, fungal, parasitic or non-infective
Should be treated as bacterial until proven otherwise due to high mortality
Most common causes of acute bacterial meningitis in children >3 months – neisseria meningitidis, streptococcus pneumoniae and haemophilus influenzae type B
In neonates (<1 month) – group B streptococci (streptococcus agalactiae), E. coli, strep pneumoniae, listeria monocytogenes
List risk factors for meningitis in children
Neonates – maternal group B strep colonisation, low birth weight, prematurity, premature rupture of membranes, maternal peripartum infection
Unvaccinated against HiB, menABCWY
Immunocompromised
Cranial anatomical defects
Contiguous infection – otitis media, sinusitis, pneumonia, mastoiditis
Describe the clinical presentation of meningitis in children
Early, often vague and non-specific: Fever, headache, nausea/vomiting, lethargy, irritability, muscle/joint pain, poor feeding
Later, more specific symptoms/signs:
Bulging fontanelle (indicates raised ICP but may be masked by dehydration)
Neck stiffness (in children >1) or back rigidity
Kernig’s sign – pain and resistance on passive knee extension with hips fully flexed
Brudzinski’s sign – knees and hip flex on bending the head forward
Non-blanching rash (indicates meningococcal disease) – petechiae or purpura
Photophobia
Leg pain
Mottled skin, cold hands and feet, prolonged CRT
Altered mental state
Shock – tachycardia, hypotension, respiratory distress, oliguria
Neurological symptoms – seizures, paresis, focal neurological deficits
Pay attention to parental concern
How should suspected meningitis in children be investigated?
LP for all children <1 month with fever, 1-3 months with fever and unwell and <1 year with unexplained fever and other features of serious illness and any age with suspected meningitis
Contraindications to LP – cardiovascular compromise, signs of raised ICP, abnormal clotting studies/low platelets or skin infection at LP site
Take blood glucose alongside so can compare blood and CSF glucose levels
Ideally LP before antibiotics but if LP is going to delay antibiotic administration by >1 hour give antibiotics first
Describe the CSF analysis findings seen in bacterial meningitis
Appearance – cloudy, turbid
Opening pressure – elevated (>25)
WBC – elevated >100 cells (primarily polymorphonuclear leukocytes, >90%)
Glucose level – low (<40% of serum glucose)
Protein level (elevated (>50)
Describe the CSF analysis findings seen in viral meningitis
Appearance – clear
Opening pressure – normal or elevated
WBC – elevated (50-1000 cells, primarily lymphocytes)
Glucose level – normal (>60% serum glucose, may be low in HSV infection)
Protein level – elevated (>50)
Describe the CSF analysis findings seen in fungal meningitis
Appearance – clear or cloudy
Opening pressure – elevated
WBC – elevated (10-500)
Glucose level – low
Protein level - elevated
Describe the CSF analysis findings in tuberculosis meningitis
Appearance – opaque, forms fibrin web if left to settle
Opening pressure – elevated
WBC – elevated (10-1000 cells, early PMN then mononuclear)
Glucose level – low
Protein level - elevated
Describe the management of bacterial meningitis in children
Community – urgent stat IM/IV benzylpenicillin prior to transfer to hospital
Empirical antibiotic treatment for suspected bacterial meningitis – IV cefotaxime, add amoxicillin and gentamicin if <6 weeks
>3 months old with no petechiae/purpuric lesions add dexamethasone and continue for 2 days (reduces risk of Hib related deafness)
Definitive treatment
N. meningitis – 7 days IV cefotaxime/ceftriaxone
S. pneumoniae – 14 days IV cefotaxime/ceftriaxone
Refer to public health for contact tracing and chemoprophylaxis (single dose ciprofloxacin)
How is viral meningitis in children managed?
No specific treatment, supportive management only
If concerns about encephalitis – IV aciclovir
Describe the prognosis of meningitis in children and potential complications
Leading infectious cause of death in children – pneumococcal is associated with poorer outcomes than other causes
Viral generally good prognosis, self-limiting
Acute complications
Sepsis, septic shock, DIC
Cerebral oedema
Raised ICP
Seizures
Bacterial
30-50% experience permanent neurological sequelae
Hearing loss
Seizures
Motor deficit
Cognitive impairment
Hydrocephalus
Visual disturbance
Viral
Headaches
Cognitive and psychological issues
How is meningococcal septicaemia managed in children?
High flow oxygen (15L/min) via non-rebreather mask
If signs of shock give IV fluid bolus 10ml/kg 0.9% saline, repeat if indicated, if requiring >2 fluid boluses discuss with PICU/anaesthetic team, consider intubation and ventilation and inotropic support
IV cefotaxmine (50mg/kg dose)
Correct metabolic derangements – hypoglycaemia, acidosis, hypocalcaemia, hypomagnesaemia, hypokalaemia, hypophosphataemia
Treat coagulopathy
List the most common presenting symptoms of renal disease in children
Flank mass
Haematuria
Proteinuria with or without oedema
Polyuria/oliguria
Hypertension
Define lower and upper UTIs
Lower (cystitis) affect bladder and urethra
Upper (pyelonephritis) affects renal pelvic and kidneys
How are recurrent UTIs defined?
Two or more episodes of UTI with acute pyelonephritis
One episode of UTI with acute pyelonephritis plus one or more lower UTI episode
Three or more episodes of lower UTI
Describe the causal organisms of UTIs in children
E. Coli (80-90%)
Proteus mirabilis – boys
Staphylococcus sprophyticus – adolescents of both sexes
Urinary tract malformations – pseudomonas, staph epidermis
Others – klebsiella, enterococcus
List risk factors of UTIs and the typical aetiology of UTIs in children
Structural urinary tract abnormalities
Vesicoureteral reflux (VUR)
Family history of UTIs or VUR
Sexual activity in adolescent girls
Immunosuppression
Mostly due to incomplete bladder emptying due to:
Infrequent voiding
Vulvitis
Hurried micturition
Constipation
VUR
Neurogenic bladder
Describe the clinical presentation of UTIs in children
Neonates – jaundice, offensive smelling urine, haematuria
During infancy – fever, vomiting, lethargy, irritability, poor feeding, failure to thrive, sepsis +/- shock
Older children – frequency, dysuria, changes in continence, abdominal pain, loin tenderness, fever, malaise, vomiting, haematuria
Upper tract features – fever, loin pain
How should suspected UTI in children be investigated?
Urgent microscopy (bacteriuria and pyuria) and culture in <3 months
Urine dipstick
MSSU with culture and sensitivity is gold standard
Describe imaging of UTIs in children and investigation of atypical/recurrent UTIs
Atypical = septic/atypical organism/renal dysfunction
DMSA – shows split of renal function
MCUG – diagnoses vesicoureteral reflux
Less than 6 months
Atypical/recurrent – acute USS, DMSA and MCUG 4-6 months post-infection
Otherwise USS in 6 weeks
More than 6 months
Atypical – USS acutely, DMSA at 4-6 months if less than 3
Recurrent – USS 6 weeks post-infection, DMSA at 4-6 months
How are UTIs managed in children?
IV antibiotics if <3 months
Empirical antibiotics
Lower – oral cefalexin
Upper – oral cefalexin or IV ceftriaxone (fever >38 and significant systemic upset)
If previous UTIs/known to nephrology or urology services look for previous culture results – may influence empiric prescribing
Switch antibiotics as required guided by sensitivities of culture
How can UTIs be prevented in children?
Fluids
Prevention/treatment of constipation
Complete bladder emptying
Good perineal hygiene in girls
?Prophylactic antibiotics – trimethoprim, only for specific cases
List potential complications of UTIs in children
Renal scarring/damage
Hypertension
Renal insufficiency and failure
Recurrent UTIs
Describe methods of urine sample collection in children
Clean catch – gold standard is MSSU into sterile pot, may need to wait with pot while infant is with parent with nappy off
Catheter specimen urine – sample taken from catheter
Suprapubic aspiration – sterile procedure, USS bladder to check for urine, insert needle midline at abdominal crease (1cm above pubic bone)
List the important urinary tract abnormalities in childhood
Absent kidney:
Bilateral renal agenesis = Potters syndrome
Multicystic dysplastic kidney – irregular cysts with no normal renal tissue
Duplex – two ureters
Upper pole ureter tends to obstruct and can be associated with a ureterocoele
Lower pole ureter tends to reflux – vesicoureteric reflux
Horseshoe or pelvic kidney
Abnormal caudal migration
Horseshoe kidney fused in the midline usually at lower poles
Obstruction – can cause bladder diverticulae, hydroureters, hydronephrosis
Posterior urethral valves – bladder hypertrophy, unilateral or bilateral hydronephrosis, renal failure
Vesicoureteric obstruction
Pelviureteric obstruction
List the most common causes of oedema in children
Heart failure
Nephrotic syndrome
Liver failure
Malnutrition
List the most common causes of haematuria in children
UTI – most common
Perineal irritation
Trauma
Acute nephritis
Coagulopathy
Stones
Tumour
Glomerular causes - acute or chronic glomerulonephritis, IgA nephritis, familial nephritis
List the most common causes of proteinuria in children
Benign – transient/intermittent, orthostatic
Pathological – persistent, associated with hypertension, macroscopic haematuria or renal dysfunction
Glomerular disease – glomerulosclerosis, glomerulonephritis, nephrotic syndrome, familial haematuria, disease-related
Tubular
Physiological stress – strenuous exercise, exposure to cold, febrile illness, congestive heart failure (usually resolves after precipitating event has resolved)
List the classical features of nephrotic syndrome
Generalised oedema
Heavy proteinuria (>2000mg/mmol)
Hypoalbuminaemia (<25g/L)
Describe the epidemiology of nephrotic syndrome
M:F 2:1
6x incidence in Asians
Peak incidence 2-5 years
Describe the aetiology/pathophysiology of nephrotic syndrome
Leaking of protein from damaged glomerulus – flattening of podocytes allows leaking
Most common cause is minimal change disease
Other causes – congenital nephrotic syndromes, focal segmental glomerulosclerosis, mesangiocapillary glomerulonephritis, systemic illnesses (HSP, diabetes, SLE, infections e.g. HIV, hepatitis, malaria)
Describe the clinical presentation of nephrotic syndrome
Symptoms:
Oedema – peripheral and facial
Frothy urine
Fatigue
Poor appetite
Recurrent infections
Venous or arterial thrombosis (MI, DVT) due to hypercoagulability
Signs:
Oedema
Xanthelasma/xanthoma
Leukonychia
SOB
Signs of pleural effusion – dullness in lung bases
Urinalysis:
Proteinuria (++++)
Frothy appearance
How should a child with nephrotic syndrome be investigated?
Urine dip
Urinary protein:creatinine ratio
Urine culture
Bloods – FBC, U&Es, LFTs, complement (C3/4), varicella status, anti-streptolysin titre
Blood pressure
How is nephrotic syndrome managed?
High-dose steroids e.g. prednisolone
Low salt diet
Diuretics for oedema
Albumin infusions if severe hypoalbuminaemia
Antibiotic prophylaxis if severe – against pneumococcal
What are the potential complications of nephrotic syndrome?
Hypovolaemia – can be extremely intravascularly deplete
Infection
Varicella zoster – can have severe infection, give VZV immunoglobulin or IV aciclovir
Thrombosis
List the classical features of haematuria
Haematuria
Mild to moderate proteinuria (<3.5)
Hypertension
Oliguria
Red cell casts in urine
Describe the clinical presentation of nephritic syndrome
Haematuria – either visible or detectable on urinalysis
Oedema
Hypertension
Oliguria (<300ml/day)
How is nephritic syndrome managed?
Dietary salt and fluid restriction
Antihypertensives
Diuretics
Steroids
Immunosuppressives
Antibiotics if post-streptococcal glomerulonephritis
May need dialysis
Define paediatric acute renal failure
Sudden reduction in renal function
eGFR decrease by 75% or <35
Urine output <0.3ml/kg/hour or anuric for 12 hours
How should children with acute renal failure be assessed?
Daily weights
Urine output
Blood pressure
Hydration status
Bloods – U&Es, FBC, glucose, coagulation screen
Consider – ASO titre, ANA, anti-DNA, anti-GBM, ANCA, hepatitis screen
Urinalysis, urinary sodium, osmolality, microscopy, C+S
Renal US
Describe the biochemical findings in acute renal failure
Pre-renal – increased urea, lower creatinine
Renal – hypocalcaemia, hyperphosphataemia, creatinine increases daily
Post-renal – hyponatraemia, hyperkalaemia, hyperchloraemic acidosis
How is acute renal failure managed?
Fluid management – accurate input/output, daily weights
Correction of hypovolaemia
Fluid overload – furosemide, fluid restriction
Correct electrolyte abnormalities
Hypo/hypernatraemia, hypocalcaemia, hyper/hypophosphataemia
Hyperkalaemia – stabilise cardiac membranes (calcium gluconate), shift potassium into cells (IV insulin + glucose, nebulised salbutamol), remove potassium from body (IV furosemide, calcium resonium), consider haemodialysis
Correct acidosis – slow sodium bicarbonate infusion
Nutritional support
Antihypertensives e.g. labetolol, nifedipine
What are the indications for dialysis in paediatric renal failure?
Severe volume overload
Severe hyperkalaemia
Symptomatic uraemia
Severe metabolic acidosis
Removal of toxins
List potential complications of chronic kidney disease in children
Anaemia – reduced EPO, iron deficiency
Cardiovascular disease, hypertension
Electrolyte disturbance – hyperkalaemia
Reduced growth
Infection
Metabolic acidosis
Osteoporosis
Cognitive issues
Urinary incontinence
List the most common causes of chronic kidney disease in children
Congenital renal disorders – renal agenesis, renal hypodysplasia, vesicoureteric reflux
Genetic conditions – Alport syndrome, PKD, nephropathic cystinosis
Post-infective – glomerulonephritis, haemolytic uraemic syndrome, interstitial nephritis
Nephrotic syndrome – minimal change disease, diabetes
Systemic diseases – diabetes, SLE
Kidney trauma
Obstruction
Most common causes by age:
0-4 – congenital defects, genetic disease
5-14 – genetic disease, nephrotic syndrome, systemic disease
15-19 – glomerular disease (nephrotic syndrome, SLE)
How is hypertension defined in children?
BP consistently >95th centile for age and gender or height
List causes of hypertension in children
Renin-dependent
Renal parenchymal disease
Renovascular
Renal tumours
Coarctation of the aorta
Catecholamine excess
Phaeochromocytoma
Neuroblastoma
Endocrine
Congenital adrenal hyperplasia
Cushing’s
Hyperthyroidism
Essential hyperthyroidism
Obesity
Pharmacological:
Steroids
Stimulant medications – methylphenidate, dexamphetamine
Recreational drugs – methamphetamine, ketamine, cocaine
Liquorice
How should children with hypertension be investigated?
Bloods – FBC, U&Es, creatinine, albumin, bicarbonate, calcium, phosphate, LFTs
Plasma renin activity, aldosterone, plasma catecholamines
Urinalysis, urine microscopy and culture, urinary protein to creatinine ratio, urinary catecholamines
Renal US with doppler flow of the renal vessels, echo, ECG, CXR, DMSA
Investigate severity of end organ damage – echo, fundoscopy, presence of proteinuria
How is hypertension in children managed?
Primary hypertension – lifestyle modification
Hypertensive crisis – support airway, breathing, circulation, manage seizures if they occur labetalol/sodium nitroprusside infusion
First-line (not in crisis) – ACE-I, ARB, thiazide diuretic or calcium channel blocker
In new presentation BP should be reduced very slowly
Describe paediatric basic life support
Ensure safety of surroundings
Unresponsive patient – check response to pain
Call for help/activate 2222
Open airway – for infant <1 keep head in line with body (neutral position), for >1 do head-tilt chin-lift or jaw thrust
Assess for signs of life (breathing, colour, temperature) for 1 minute
If no signs of life or any doubt – 5 rescue breaths
No signs of life during rescue breaths – begin chest compressions, 15 compressions then 2 breaths
If return of spontaneous circulation – require urgent medical assessment (A-E)
Describe the clinical presentation of cardiac failure in children
Lethargy
Feeding problems, breathless on feeding
Sweating
Failure to thrive
Recent excessive weight gain/oedema
Cyanotic attacks
Tachycardia and tachypnoea
Hepatomegaly
How is acute cardiac failure in children managed?
Diuretic e.g. furosemide (check U&Es, consider potassium supplements unless spironolactone given)
Oral digoxin (contraindicated in tetralogy of Fallot)
Oxygen
Morphine for agitation
Sit up
Treat precipitating event
Describe immediate management of burns and scalds in the home
Strip off affected clothing, if small area immerse in cold running water or add ice to a basin of water, until cool
Cover area in a clean dry sheet, towel or dressing
Describe assessment and immediate management of burns and scalds in hospital
Airway – soot in nostrils?
IV access
Appropriate analgesia e.g. morphine
Plasma expanders if >10% of surface affected to prevent shock and renal failure – colloid or Ringer’s solution, blood if full thickness
Weigh
Hb check for early haemoconcentration and subsequent anaemia in full thickness
Monitor urine output, blood and urine biochemistry, beware of renal failure
Percentage area of burn or % total body surface area decides if child needs admission
Consider non-accidental injury, especially in pre-school child
Describe the classification of burns according to depth
Superficial – no blisters
Superficial dermal – good blood supply, pink, blistered
Deep dermal – altered sensation but not painless, blisters well demarcated with speckled appearance
Full thickness – painless, white/brown/dry
How does the % area of burns in children dictate their management?
All burns >3% need to be referred for assessment
All full-thickness burns >1% should be referred for assessment
>10% needs IV fluids
>30% consider PICU
How should poisoning in children be assessed/managed at home and in hospital?
At home – induce vomiting with fingers (except with volatile hydrocarbons or caustics or when child is unconscious)
Establish what has been taken, amount, when, how
Consider non-accidental ingestion
Induce vomiting with syrup of ipeacac 15ml + glass of water, within 6 hours of ingestion, up to 24 hours for salicylates, repeat after 20 minutes if no result
Contraindicated in caustic, petrol or white spirit ingestion
Gastric lavage with protected airway if unconscious
Specific antidotes e.g. acetyl cysteine for paracetamol, dexferrioxamine for iron, naloxone for opiates
General measures – monitor airway, circulation, temperature, fluid balance, blood glucose
Define sudden infant death syndrome and describe its epidemiology
Sudden and unexpected death after which a properly performed autopsy fails to reveal a major cause of death
Predominantly in 1 month to 1 year old
More common in boys, low birth weight, winter, adverse social and domestic conditions
How should suspected SIDS be managed?
May be appropriate to attempt resuscitation
If history and examination do not suggest prior illness and NAI not suspected parents should be told SIDS is likely
Explain procurator fiscal duty to investigate and need for police statement, possibly identification of body and visit home to collect evidence
Parents may wish to hold baby
Inform family doctor, health visitor and social services
Suppress lactation if breastfeeding
Describe the pathophysiology of atopic eczema
Impaired skin barrier and dysregulated immune system
Genetic component – mutation in FLG gene which encodes filaggrin protein, part of the stratum corneum
Impairment of epidermis allows environmental allergens penetration, entry of pathogens and water loss
How is eczema managed in children?
Improving the skin barrier – bathing with emollients (not soap), liberal and frequent application of emollients (greasiest formulation tolerated)
Avoidance of irritants and allergens – soap, perfume, allergens specific to child e.g. food, heat/sweating
Reduction in itch/scratching – moisturise with emollients, sedative anti-histamines, cotton garments/scratch mitts, keep nails short
Topical steroids – used in short burst on active areas, for flares or on chronic patches
Body – medium potency for 7 days then 2-3 weekly to chronic areas, if not controlled increase to potent if >1
Face – 1% hydrocortisone safe for daily use (except eyelids) when limited to 3 nights weekly
Describe the potential side effects of topical steroids
Thinning of skin – bruising, tearing, stretch marks, telangiectasia
Depending on location and strength – systemic absorption
Avoid around eyes, genital region
Describe the ladder of topical steroids
Mild – hydrocortisone 1%
Moderate – betamethasone valerate 0.025%, clobetasone butyrate 0.05%
Potent – betamethasone 0.1%
Very potent – clobetasol propionate 0.05%
List the potential complications of atopic eczema
Bacterial infection with staph aureus – antibiotics
HSV infection – eczema herpeticum, medical emergency which presents with fever, lymphadenopathy, malaise and widespread lesions, can lead to hepatitis and DIC, treat with oral or IV aciclovir
Psychosocial problems
Describe the pathophysiology and risk factors for irritant contact nappy dermatitis
Due to friction and contact with urine and faeces, can lead to candida and bacterial overgrowth
Risk factors:
Delayed changing of nappies
Irritant soap products and vigorous cleaning
Poorly absorbent nappies
Diarrhoea
Oral antibiotics
Pre-term
Describe the presentation of irritant contact nappy dermatitis
Sore, red, inflamed skin in nappy area – glazed erythema
Spares skin creases
Distressed infant
Can lead to erosions and ulceration
How can nappy rash be differentiated from candidal infection?
Candida – rash extends into skin folds, larger red macules, well-demarcated scaly border, circular pattern to rash, satellite lesions, associated with oral thrush
How is irritant contact nappy dermatitis managed?
Switch to highly absorbent nappies
Change nappy and clean skin as soon as possible after wetting/soiling
Use water or gentle alcohol-free products for cleaning
Ensure nappy area is dry before replacing the nappy
Maximise time not wearing a nappy
Greasy emollient to repair skin barrier
Infection with candida/bacteria – anti-fungal cream (clotrimazole) or antibiotic (fusidic acid cream or oral flucloxacillin)
Describe the pathophysiology and risk factors for vulvovaginitis
Irritation of sensitive thin skin around vulva and vagina in pre-pubescent girls
Vagina prone to colonisation and infection with bacteria spread from faeces
Less common after puberty, oestrogen keeps skin and vaginal mucosa healthy and resistant to infection
Can be exacerbated by:
Wet nappies
Use of chemicals/soaps
Tight clothing
Poor toilet hygiene
Constipation
Describe the pathophysiology and risk factors for vulvovaginitis
Irritation of sensitive thin skin around vulva and vagina in pre-pubescent girls
Vagina prone to colonisation and infection with bacteria spread from faeces
Less common after puberty, oestrogen keeps skin and vaginal mucosa healthy and resistant to infection
Can be exacerbated by:
Wet nappies
Use of chemicals/soaps
Tight clothing
Poor toilet hygiene
Constipation
How does vulvovaginitis present?
Soreness
Itching
Erythema around labia
Vaginal discharge
Dysuria
Constipation
Leukocytes but no nitrites on dipstick
How is vulvovaginitis managed?
Avoid washing with soap and chemicals
Avoid perfumed or antiseptic products
Good toilet hygiene, wipe from front to back
Keep area dry
Emollients
Loose cotton clothing
Treat constipation where applicable
Describe the presentation of discoid eczema
Localised form of eczema with will demarcated circular plaques which are often crusted and weeping due to bacterial superinfection
How is discoid eczema managed?
Emollient and bathing regime as for atopic eczema
Generally requires potent steroid for 7-10 days to settle flare
If crusted/weeping use topical steroid combined with anti-bacterial
What is lick-lip dermatitis? How does it develop?
Peri-orbital eczema caused by drying of the lips in atopic children, causing then to lick them which irritates the skin, causing an eczema which dries the skin further
Worse in winter
How is lip lick dermatitis managed?
Greasy emollients
If red – topical steroid with anti-fungal e.g. trimovate
Consider tacrolimus if requiring trimovate more than once per month
Describe the presentation of pityriasis alba
Hypopigmentation with dry rough skin on the cheeks of atopic children, 4-12 years, mainly in those with darker skin tones
How is pityriasis alba managed?
Emollients
Sunscreen – prevent surrounding skin tanning which makes it more obvious
Describe the clinical presentation of juvenile plantar dermatosis
Plantar surface of anterior third of foot and sometimes first toe affected by erythema, hyperkeratosis and fissuring
Not itchy
Glazed appearance
Plantar arch spared – no friction
Flares intermittently and continues until puberty where it settles spontaneously
How is juvenile planter dermatosis managed?
Avoid occlusive footwear, synthetic socks
Wear two pairs of cotton socks or thick towelling socks to improve absorption of sweat
Aluminium chloride powder can reduce sweating
Urea-based emollients to help hyperkeratosis and fissuring
Topical steroids suppress flares
Describe the aetiology and transmission of impetigo
Superficial bacterial skin infection usually caused by staphylococcus aureus (occasionally strep pyogenes)
Contagious, spread via direct contact with sores or fluid from sores
Describe the clinical presentation of impetigo
Non-bullous – around nose/mouth, exudate forms golden crust, don’t usually cause systemic illness
Bullous – caused by staph aureus producing epidermolytic toxins, causes 1-2cm fluid filled vesicles to form on skin, which grow then burst, leaving a golden crust, may be feverish and generally unwell, more common in neonates/children <2
How is impetigo managed?
Non-bullous – antiseptic cream (hydrogen peroxide 1%) first-line, then topical antibiotic (fusidic acid)
Bullous – oral antibiotic (usually flucloxacillin), may need IV if unwell or high risk for complications
Hygiene measures – avoid sharing towels/bathing with other children
Off school until lesions have healed or on antibiotics for at least 48 hours
What are the potential complications of impetigo?
Cellulitis
Sepsis
Scarring
Post-strep glomerulonephritis
Staphylococcal scalded skin syndrome
Scarlet fever
What causes molluscum contagiosum? How is it transmitted?
Caused by molluscum contagiosum virus – poxvirus, DNA virus
Spread by direct contact or sharing towels/bedsheets
Describe the clinical presentation of molluscum contagiosum
Small, flesh-coloured papules with a central dimple, appear in crops of multiple lesions in a localised area
Usually age 4-9, more common in children with eczema as scratching allows for spread
How is mollucsum contagiosum managed?
Usually don’t require any intervention,
If immunocompromised, very extensive lesions or in problematic areas may have specialist treatment e.g. topical benzoyl peroxide, imiquimod, surgical removal, cryotherapy
Avoid sharing towels or close contact with others
Take approx 18 months to resolve
What causes scabies?
Mites – sarcoptes scabiei
Burrow under skin causing infection and itch, can lay eggs in the skin leading to further infestation and symptoms
How do scabies present?
Extremely itchy red spots with burrow tracks, may only be visible on soles of feet in children
Classically between finger webs
How is scabies managed?
Permethrin cream – apply to whole body, leave on for 8-12 hours then wash off
Repeat a week later to kill any remaining eggs
Oral ivermectin can be used for difficult to treat/crusted scabies
Need to treat whole household
Wash all clothes, bedsheets and towels
What causes tinea capatis?
Fungal scalp infection e.g. trichpyton tonsurans
More common in African and Caribbean countries
Describe the clinical presentation of tinea capatis
Diffuse scale to patchy alopecia with black dots (broken hairs) or widespread pustules with associated lymphadenopathy
Boggy swelling with overlying crust, can breakdown to leave large ulcer which scars
How is tinea capatis diagnosed and managed?
Diagnosis – microscopy and culture of scrapings
Ketoconazole shampoo – prevents spread
Oral griseofulvin – licensed, causes nausea
Terbinafine (unlicensed) – more effective
Review after 4 weeks and rescrape/continue treatment if still clinically affected
Describe the causes of acute and chronic urticaria
Acute:
Allergic reaction
Irritant contact
Medications
Viral infections
Insect bites
Dermatographism
Chronic:
Chronic idiopathic urticaris
Chronic inducible urticaria
Autoimmune urticaria
How is urticaria managed?
Antihistamines
Chronic urticaria - fexofenidine
Severe flares - oral steroids
Define amblyopia and describe its pathophysiology
Poor vision in a structurally normal eye
During the first 7 years of visual development, if one eye provides poorer image to brain than other then brain favours sharper eye and other eye ‘turns off’, leading to visual loss which is potentially reversible if treated
List causes of amblyopia
Reduced view through eye e.g. ptosis, cataract
Unequal focus e.g. one eye is more long or short sighted (anisometropia)
Misalignment of eyes e.g. squint (strabismus)
List causes of squint in children
Usually idiopathic
Refractive error in one or both eyes, especially hypertropia (long-sightedness) – accommodative esotropia
Cataract
Neurodevelopmental conditions – cerebral palsy, Down syndrome
Hydrocephalus
Cerebral palsy
Space occupying lesions, e.g. retinoblastoma
Trauma
Describe normal visual development from birth
2 months – able to fix and follow
Binocular vision established about 3 months – intermittent deviation of eyes common in healthy neonates
5-8 months – depth perception develops, begin to reach for objects in front of them, recognise parents and smile at them, colour vision good but still developing
How can squints be described based on their features?
Esotropia – inward, affected eye towards nose
Exotropia – outward, affected eye towards ear
Hypertropia – upward
Hypotropia – downward
Can be constant or intermittent
Accommodative – more obvious/occurs when child is accommodating (focusing on an object), typically when child is hypermetropic, can be reduced/corrected if refractive error is corrected with glasses
Non-accommodative – no significant hypermetropia or if hypermetropia present there is no change in squint with glasses
How are squints and amblyopia assessed?
General eye inspection
Corneal light reflex (Hirschberg test) – assess symmetry
Eye movements – both eyes and individually
Cover test – focus on something, cover one eye then the other, watch for deviation when eye is uncovered
How are squints treated?
Need to treat before 8 years old while visual fields are still developing, delayed treatment increases risk of squint becoming permanent and causing amblyopia
Conservative – observation, occlusion, orthoptic exercises
Glasses – correct hypermetropia
Surgery
Describe the clinical presentation and management of nasolacrimal duct obstruction
5-20% babies have congenital obstruction of nasolacrimal duct opening into nose
Causes sticky watery eye, no conjunctivitis
Majority resolve spontaneously by age 1
Parents massage to encourage drainage, regular cleaning of discharge from lids
Describe the clinical presentation of allergic eye disease
Redness, itching/burning, swelling, tearing, stringy discharge
Seasonal variance – worse in spring/summer with increased pollens
How is allergic conjunctivitis managed?
Eye drops – anti-histamine (e.g. cetirizine), NSAID, steroid
Oral antihistamine – fexofenadine, cetirizine, especially if other allergic symptoms
List causes of an absent fundal reflex (leukocoria)
Cataract
Retinal detachment
Retinopathy of prematurity
Intraocular infection – endophthalmitis
Retinal vascular abnormality – Coat’s disease
Toxoplasmosis
Uveitis
Retinoblastoma
What are the implications if an abnormal fundal reflex is seen in a child?
Urgent ophthalmology referral
Could indicate a sight- (cataract) or life-threatening (retinoblastoma) pathology
Describe the pathophysiology of retinoblastomas
Genetic component – RB1 gene
Mutation in germline cells causes bilateral disease, in somatic cells causes unilateral disease
Most unilateral tumours are sporadic and non-hereditary
Cell of origin – cone photoreceptors in retina
How does retinoblastoma present?
Leukocoria – one or multiple nodular, white/cream masses with increased vascularisation
Strabismus
Rarely – pain and inflammation
Family history of blindness, eye tumours, childhood malignancies
How is retinoblastoma diagnosed?
Ultrasound
CT/MRI
May need LP/bone marrow biopsy to determine extent of disease
How is retinoblastoma managed?
Enucleation – eyeball removed
Globe salvaging techniques – systemic chemotherapy, intravitreal chemotherapy
List causes of congenital cataracts
Genetic – syndromal (Cri-du-chat, Down’s, Patau’s, Edward’s, Turner’s) and non-syndromal (more commonly)
Intrauterine infections – rubella, toxoplasmosis, varicella, herpes, CMV
Metabolic conditions – galactosaemia, Lowe syndrome, diabetes
How are congenital cataracts managed?
Conservative – if small and not affecting vision, observation with monitoring and pharmacologic pupillary dilatation/occlusion of the other eye
Surgical – lensectomy (<1) with primary posterior capsulotomy and anterior vitrectomy and future lens implant with glasses/contact lenses in meantime, if older can do lensectomy and lens implant
Describe the differential diagnosis for neck lumps in children
Reactive cervical lymphadenopathy – most likely
Congenital and developmental lumps – thyroglossal cyst, branchial cyst, dermoid cyst, lymphangioma, infantile haemangioma, venous malformation
Sialadenitis
Thyroid – thyroglossal duct cyst, thyroid tumour, goitre
Neoplastic – malignant lymphadenopathy, benign connective tissue tumour, salivary gland tumour, rhabdomyosarcoma
Skin infection
What are the indications for tonsillectomy in children?
Recurrent tonsillitis:
7 or more in 1 year
5 per year for 2 years
3 per year for 3 years
Recurrent tonsillar abscesses (2 episodes)
Enlarged tonsils causing difficulty breathing, swallowing or snoring
What are the potential adverse effects of chronic tonsillar and adenoid hypertrophy?
Adenoid – nasal obstruction, recurrent sinusitis, post-nasal drip, sleep apnoea, chronic runny nose, halitosis, chronic cough
Tonsils – sleep apnoea, dysphagia
How is allergic rhinitis managed in children?
Topical nasal steroid sprays with oral non-sedating antihistamine
What is the usual cause of obstructive sleep apnoea in children?
Physiological hypertrophy of the tonsils and adenoids, mostly in children aged 2-7
How does obstructive sleep apnoea present in children?
Poor nights sleep
Snoring
Apnoeic episodes during sleep
Restless/sweaty during the night
Tired during day
Behavioural problems/poor sleep performance
How is obstructive sleep apnoea in children diagnosed and managed?
Sleep studies (overnight pulse oximetry or full 12-channel polysomnography)
Adenoidectomy and tonsillectomy are curative for most
Define internalising and externalising behaviour disorders and compare their features
Can define childhood/adolescent behavioural problems as externalising or internalising
Internalising – internalise negative emotions including sadness, guilt, fear, depression, and anxiety, leading to problems e.g. social withdrawal and eating disorders
Internalising behaviour is over-controlled and self-directed
Externalising behaviour – under-controlled, impulsive or aggressive behaviours directed towards others/environment, e.g. conduct disorders (anti-social personality disorder), pyromania, kleptomania, ADHD
Describe the features of conduct disorders
Characterised by a disregard for others which interferes with ability to lead a normal life
Disruptive and aggressive behaviours
If in the home – oppositional defiant disorder
Involvement in violent physical fights
Stealing or lying with no sign of remorse
Refusal to follow rules, breaking the law, truancy from school
Risk-taking behaviour e.g. drugs, sex
Define reactive attachment disorder and describe its features
Trauma- and stressor-related condition of early childhood caused by social neglect and maltreatment
Difficulty forming emotional attachments to others, decreased ability to experience positive emotions, difficulty seeking or accepting physical or emotional closeness
Behaviourally unpredictable, difficult to console, difficult to discipline
Erratically fluctuating moods
Strong desire to control environment and make their own decisions
List common childhood anxiety disorders and describe their main features
Generalised anxiety disorder – excessive worry about a variety of things, perfectionism, seek constant approval or reassurance from others
Panic disorder – unexpected panic attacks
Separation anxiety – persists past normal age or is excessive compared to other children, anxiety when away from home or parents, worry about something bad happening when separated
Social anxiety disorder – intense fear of social and performance situations
Selective mutism – refuse to speak in situations where talking is expected or necessary, can be talkative at home
Specific phobias – intense, irrational fear of a specific object or situation
Obsessive compulsive disorder – unwanted and intrusive thoughts (obsessions) and compulsions (repeatedly performing rituals and routines to ease anxiety)
Post-traumatic stress disorder – after experiencing or witnessing a traumatic/life-threatening event, intense fear/anxiety, emotionally numb, avoidance of reminders
Define tics and describe the common tic disorders in children
Tics – sudden repetitive movements or sounds, semi-voluntary/unvoluntary (not strictly involuntary), voluntary response to irresistible urge (premonitory sensation) which can be suppressed for a time, tic feels like relieving tension (like scratching an itch)
Children less able to suppress tics than adults
Tourette syndrome – motor and vocal tics, symptoms for at least 1 year
Persistent motor or vocal tic disorder – motor or vocal tics (not both) for at least 1 year
Provisional tic disorder – symptoms for less than a year
Tic-like behaviour – functional disorder with tic-like symptoms, female preponderance, older onset
Define feeding disorders and describe their features
Child’s refusal to eat certain food groups, textures etc. for at least one month, which causes the child to not gain enough weight, grow naturally or causes developmental delay
May vomit, gag or choke while eating certain foods
React negatively at mealtimes to attempts at feeding
Associated with GI motility disorders, oro-motor dysfunction, food allergies, sensory problems, reflux
What legislation is concerned with safeguarding children and child protection in Scotland?
Children (Scotland) Act 1995 and Children and Young People (Scotland) Act 2014
Are parents always allowed to view their child’s medical records?
If child doesn’t have capacity and doesn’t go against child’s best interests yes
If child has capacity and refuses or it goes against child’s best interests (e.g. risk of harm to child) no
How is the ability to consent in children assessed?
If over 16 capacity is assumed
Can use Gillick competence to assess under 16s, assess:
Age, maturity and mental capacity
Understanding of issue and what it involves – advantages, disadvantages and potential long-term impact, alternative options
Ability to explain rationale around reasoning and decision making
Fraser guidelines – for contraception and sexual health
To give treatment without parents consent/knowledge if young person:
Cannot be persuaded to inform parents
Understands advice given
Physical or mental health likely to suffer if they do not receive advice/treatment
In their best interest to receive advice/treatment without parent’s consent
Is very likely to continue having sex with or without contraceptive treatment
Child protection – if under 13 always need child protection referral, if concerned about sexual exploitation/abuse/grooming
Define hypospadias
Congenital defect which causes urethral meatus to be abnormally located, usually ventrally and proximally on penis
Describe the classification of hypospadias
Related to location of meatus
Glandular (on glans penis)
Coronal
Shaft – distal, mid, proximal
Scrotal
Perineal
Describe the clinical presentation of hypospadias
Ventral opening of urethral meatus
Chordee – ventral curvature of penis
Dorsal hooded foreskin
How are hypospadias managed? What are the potential complications if untreated?
Paediatric urology referral
Mild cases – no treatment
Surgery (urethroplasty), usually at 3-4 months, correct position of meatus and straighten penis
Do not have circumcision until discussed with urologist (may need foreskin for reconstruction)
Complications
Difficulty directing urination
Cosmetic and psychological concerns
Sexual dysfunction
Describe the cause of Charcot-Marie-Tooth disease
Inherited, usually autosomal dominant
Affects peripheral motor and sensory nerves
List the classical features of Charcot-Marie-Tooth disease
Pes cavus
Distal muscle wasting causing ‘inverted champagne bottle legs’
Weakness in lower legs, particularly loss of ankle dorsiflexion
Weakness in hands
Reduced tendon reflexes
Reduced muscle tone
Peripheral sensory loss
How is Charcot-Marie-Tooth managed?
No treatment for the underlying disease, supportive management to maintain function
Physiotherapy
Occupational therapy
Podiatry - orthoses
Orthopaedic surgery – correct disabling joint deformities
Describe the cause of spinal muscular atrophy
Autosomal recessive condition which causes progressive loss of motor neurons leading to muscle weakness
Describe the types of spinal muscular atrophy and their prognoses
Type 1 – onset in first few months of life, usually death within 2 years
Type 2 – onset within first 18 months of life, most never walk, survive to adulthood, most common
Type 3 – onset >1, walk then lose the ability, respiratory muscle less affected, life expectancy close to normal
Type 4 – onset in 20s, most retain ability to walk short distances but may need wheelchair for mobility, fatigued with everyday tasks, respiratory muscles and life expectancy not affected
How is spinal muscular atrophy managed?
No cure, MDT input
Physio
Respiratory support – NIV, tracheostomy with mechanical ventilation (type 1)
PEG feeding
Define nocturnal enuresis and describe the classification
Involuntary wetting during sleep
Generally considered normal in <5
Classification:
Primary bedwetting without daytime symptoms – never achieved sustained continence at night, no daytime symptoms
Primary bedwetting with daytime symptoms – never achieved sustained continence at night and has daytime symptoms (urgency, frequency, wetting, straining, poor urinary stream, dysuria)
Secondary bedwetting – after child has previously been dry at night for more than 6 months
List causes of nocturnal enuresis
Primary bedwetting without daytime symptoms – sleep arousal difficulties, polyuria, bladder dysfunction (overactive or small capacity)
Primary bedwetting without daytime symptoms – overactive bladder, structural abnormalities (e.g. ectopic ureter), neurological disorders (neurogenic bladder), UTI, chronic constipation
Secondary bedwetting – often has underlying cause e.g. diabetes, UTI, constipation, psychological problems, family problems
How is nocturnal enuresis managed?
Explain it is not the child’s fault
Reassure if younger than 5 that this is normal and usually resolves without treatment
Lifestyle advice – don’t restrict fluid intake, avoid caffeinated drinks, empty bladder regularly and before sleep, don’t regularly wake child to go to toilet
Positive reward systems
Short-term – desmopressin
Long-term – enuresis alarm (first-line), tricyclics or antimuscarinics (second-line)
Describe the indications for CT scanning in children with head injuries
Within 1 hour if any of the following risk factors:
Suspicion of NAI
Post-traumatic seizure without history of epilepsy
On initial ED assessment GCS <14 or for children under 1 year GCS <15
At 2 hours after injury, GCS <!5
Suspected open or depressed skull fracture or tense fontanelle
Any sign of basal skull fracture (haemotympanum, ‘panda’ eyes, CSF fluid from ear or nose, Battle’s sign)
Focal neurological deficit
For children under 1 year, presence of bruise, swelling or laceration of >5cm on head
Within 1 hour if more than 1 of the following risk factors:
Loss of consciousness lasting >5 minutes (witnessed)
Abnormal drowsiness
Three or more discrete episodes of vomiting
Dangerous mechanism of injury
Amnesia (antegrade or retrograde) lasting >5 minutes
If on anticoagulant treatment perform CT within 8 hours of injury
Describe the NICE traffic light system for identifying the risk of serious illness in children
Colour
Green (low risk) – normal colour of skin, lips and tongue
Amber (intermediate risk) – pallor of skin, lips or tongue
Red (high risk of serious illness) – pale, mottled, ashen, or blue skin, lips, or tongue
Activity
Green – responding normally to social cues, content and smiling, stays awake or awakens quickly, strong normal cry or not crying
Amber – not responding normally to social cutes, waking only with prolonged stimulation, decreased activity, not smiling
Red – no response to social cues, appears ill to a healthcare professional, unable to rouse or if roused does not stay awake, weak, high-pitched or continuous cry
Respiratory
Green – normal breathing
Amber – nasal flaring, tachypnoea (6-12 months >50, >12 months >40), oxygen sats <95% in air, crackles on chest auscultation
Red – grunting, tachypnoea >60, moderate or severe chest indrawing
Hydration and circulation
Green – normal skin tugor and eyes, moist mucous membranes
Amber – poor feeding, dry mucous membranes, CRT >3 seconds, reduced urine output, tachycardia (>160 under 1, <150 1-2 or >140 2-5)
Red – reduced skin turgor
Other
Green – no amber/red signs
Amber – fever >5 days, rigors, temperature >38 in children 3-6 months, swelling of limb or joint, non-weight bearing or not using a limb
Red – temperature >39 in 3-6 months, non-blanching rash, bulging fontanelle, neck stiffness, focal neurological signs, focal seizures, status epilepticus
