Paediatrics 1 Flashcards
What is pneumonia?
an acute lower respiratory tract infection resulting in inflammation of the lung tissue and sputum filling the airways and alveoli
What are the 3 most likely bacterial causes of pneumonia in neonates?
organisms from the maternal genital tract e.g.
- group B streptococcus
- bacilli
- gram -ve enterococci
What are the 3 most common causes of pneumonia in children older than 5?
strep pneumoniae
mycoplasma
chlamydia
What is the overall most likely cause of bacterial pneumonia?
strep pneumoniae
What are the key symptoms of pneumonia? x4
fever
cough
chest pain
lethargy
What are the key signs of pneumonia in children ? x5
tachypnoea
nasal flaring and recession
decreased breath sounds
bronchial breathing
focal course crackles on auscultation
How is pneumonia diagnosed in children?
usually clinical
CXR
sputum sample
What is the 1st line treatment for bacterial pneumonia in children?
amoxicillin
What is the treatment for mycoplasma or chlamydia pneumonia?
macrolide antibiotics e.g. erythromycin
What is croup?
Infection of the upper airway seen in infants and toddler, known as laryngotracheobronchitis
What is the most common cause of croup?
Parainfluenza viruses
What are the key symptoms of croup? x4
Inspiratory stridor and hoarseness (due to inflammation of the vocal cords)
Barking cough (worse at night) (due to tracheal oedema and collapse)
High fever
Cold symptoms
What is Hoover’s sign?
When the chest wall recesses in croup
How is croup differentiated from epiglottitis?
similar presentations but epiglottitis is much more rapid onset of acute illness, with very high temperature, no cough, drooling and soft, whispering stridor
What is the management for croup? (mild vs moderate/severe)
Mild - give oral dexamethasone (0/15mg/kg) and symptoms usually resolve within 28 hours
Moderate/severe - admit to hospital and give O2 + nebulised adrenaline
What are the signs of severe croup? x5
frequent cough
stridor is prominent at rest (mild disease has no cough at rest)
marked sternal recession (hoover’s)
significant distress and agitation
lethargy and restlessness
What is acute epiglottitis?
Inflammation of the epiglottis and surrounding tissues associated with septicaemia
It is a life-threatening emergency due to the high risk of respiratory obstruction
What causes acute epiglottitis?
haemophilus influenzae type b (Hib)
In what age group is acute epiglottitis most commonly seen?
children aged 1-6
What are the key symptoms of acute epiglottitis? x3
High fever in a very ill, toxic-looking child
Intensely painful throat which prevents the child from speaking or swallowing - saliva drools down from the chin
Soft inspiratory stridor
What are the key signs of acute epiglottitis? (specific position)
Rapidly increasing respiratory difficulty over hours
Child sitting upright and immobile with an open mouth to optimise the airway (tripoding)
How is acute epiglottitis diagnosed?
usually symptom-based diagnosis plus throat examination
how is acute epiglottitis managed?
Urgent hospital admission and treatment is needed
Secure airway with tube + fluids + antibiotics (e.g. cefuroxime) + give oxygen
Rifampicin is given prophylactically to other household occupants/close contacts
What is tripod position in relation to acute epiglottitis?
a sign of respiratory distress characterised by the child leaning forward, mouth open and tongue out
What is the difference between wheeze and stridor?
wheeze is an polyphonic (more than one sound) noise heard on expiration
stridor is an monophonic high-pitched inspiratory noise
What pathology is characteristic of asthma?
reversible airway obstruction
airway hyperresponsiveness
inflamed bronchioles
mucus hypersecretion
When are symptoms usually worse in asthmatics?
at night and early in the morning due to narrowing of the airways during sleep as a result of changing hormone levels (e.g. cortisol, epinephrine + melatonin)
What are the treatments for acute asthma? (moderate, acute severe/life-threatening)
moderate - give salbutamol
acute severe/life-threatening - requires hospital admission, 1st line: salbutamol nebulised with O2 + oral prednisolone, 2nd line: IV salbutamol and aminophylline
What is the management for chronic asthma in children aged 5-16?
start with SABA for symptoms relief
step wise approach if symptoms >3 times per week
1: SABA + low does ICS
2: SABA + low dose ICS leukotriene receptor antagonist
3: SABA + paediatric low-dose ICS + LABA
specialist care referral if still not improving
What are the features of a moderate acute asthma attack? x5
SpO2 >92%
PEF >33%
HR <140bpm
RR <40/min
Able to talk
What are the features of an acute severe asthma attack? x6
SpO2 <92%
PEF <33-50% predicted
HR >140 bpm (1-5 yrs)
HR >125 bpm (5+ years)
RR >40/min (1-5 yrs)
RR >30/min (5+ yrs)
Can’t complete sentences in 1 breath
Use of accessory neck muscles
What are the features of a life-threatening asthma attack? x6
SpO2 <92% with one of:
PEF <33%
Cyanosis
Confusion
Silent chest
Hypotension
What pCO2 value indicates a life-threatening asthma attack?
a normal pCO2 of 4.8-6 kPa
this indicates reduced respiratory effort in asthma because initially there is compensation and hyperventilation causing the pCO2 to decrease but when further air trapping leads to decreased lung compliance and increased work of breathing, the pCO2 will begin to increase.
What is virally induced wheeze?
episodic wheeze resulting from small airways being more susceptible to narrowing and obstruction due to inflammation and aberrant immune responses to viral infection
What are the risk factors for virally induced wheeze?
maternal smoking during +/or after pregnancy
premature birth
FH of early wheezing
males
increased viral exposure during childhood
What are the key symptoms of virally induced wheeze? x6
URTI symptoms - cough, coryza, blocked/runny nose, sneezing, sore throat
fever
lethargy and fatigue
poor feeding
wheezing sound
difficulty breathing/chest tightness
what are the signs of virally induced wheeze? x6
tachypnoea
hypoxia
wheezing
prolonged expiratory phase
reduced air entry
accessory muscle use/retractions
What are the some of the most common differentials for virally induced wheeze? x3
asthma
anaphylaxis
foreign body aspiration
How is virally induced wheeze treated?
same as acute asthma treatment - severity dependent
What is bronchiolitis?
Lower respiratory tract infection which leads to the blockage of small airways in the lungs
What are some of the causes of bronchiolitis? x 2 main +others
Respiratory syncytial virus is the most common cause
Rhinovirus (2nd most common cause)
Other causes: adenovirus, parainfluenza virus, influenza virus and human metapneumovirus
Coinfection with more than one virus can lead to a more severe illness
What are 3 risk factors for bronchiolitis?
premature birth
bronchopulmonary dysplasia
underlying disease e.g. CF
What are the key symptoms of bronchiolitis? x3
dry wheezy cough
poor feeding
increasing breathlessness
(serious complication = recurrent apnoea)
What are the signs of bronchiolitis? x5
Tachypnoea and tachycardia
Subcostal and intercostal recession
Hyperinflation of the chest
Fine end-inspiratory crackles
High pitched wheezes - expiratory > inspiratory
What features in bronchiolitis require immediate hospital assessment?
apnoea
serious unwell-looking child
severe respiratory distress e.g. grunting, marked chest recession, or a resp rate over 70 breaths/minute
central cyanosis
persistent O2 saturation <92% when breathing air
What is the management for bronchiolitis?
supportive
humidified O2 via nasal cannulae/head box
apnoea monitoring
IV fluids if needed
What is cystic fibrosis?
an inherited autosomal recessive condition affecting mucus glands due to delta F508 mutation in the CFTR gene on chromosome 7
What is the pathophysiology in CF?
- the defective CFTR gene codes for cyclic AMP-dependent chloride channels
- the mutation causes poor chloride secretion across the epithelium leading to production of very thick, sticky mucus which clogs airways/tracts resulting in multiple system involvement
What is the key symptom/complication of CF in neonates?
meconium ileus (bowel obstruction which occurs when the first faeces are even thicker and stickier than normal meconium)
What are the key symptoms of CF in infants? x4
→ failure to thrive + steatorrhoea (fatty faeces)
→ short stature
→ recurrent chest infections due to S/ aureus + pseudomonas aeruginosa
→ prolonged neonatal jaundice
What are the main pathogens which can cause lung infections in CF patients? x3
s. aureus
h. influenzae
pseudomonas aeruginosa
What are the key symptoms of CF in young children? x4
→ bronchiectasis
→ rectal prolapse
→ nasal polyp
→ sinusitis
How is CF usually diagnosed in children?
usually detected during new-born screening programmes
sweat test (measures Cl- in sweat which is elevated in CF)
What is the management for CF in children?
interdisciplinary approach to manage symptoms as no definitive cure
Respiratory: TWICE DAILY chest physio, multiple courses of antibiotics for recurrent infections
GI: pancreatic enzyme replacement, liver transplant and high calorie/fat diet
orkambi
What is the new treatment for CF and how do the 2 types work?
Orkambi which can be used in patients who are homozygous with the delta F508 mutation
Lumacaftor –> increases the number of CFTR proteins which are transported to the cell surface
Ivacaftor –> potentiates opening of the CFTR channel at surface to promote less viscous mucus
What is acute otitis media?
inflammation of the middle ear of fewer than 3 weeks duration and is usually secondary to a bacterial infection spreading from the upper respiratory tract via the eustachian tube
What are some of the risk factors for acute otitis media? x8
young age (peak incidence is in the 1st year of life)
male
daycare or nursery attendance
lack of breast feeding
exposure to tobacco smoke and air pollution
congenital craniofacial abnormalities including trisomy 21 and cleft palate
immunocompromised children
What are the key symptoms of acute otitis media? x6
recent onset ear pain - can present as ear pulling or irritability in nonverbal children
fever
anorexia/poor feeding
vomiting/diarrhoea
lethargy
aural fullness
What are the otoscopy findings in acute otitis media?
Red, bulging and tender tympanic membrane
Mucopurulent discharge in acute suppurative otitis media
What is the management for acute otitis media?
AOM is self-limiting usually lasting 3-7 days and often doesn’t require treatment
In children who are unwell or at high risk of complications immediate antibiotics (1st line amoxicillin, 2nd line co-amoxiclav) and consideration of hospital admission is needed
What are some of the potential complications of AOM? x7
acute mastoiditis
sensorineural + conductive hearing loss
cholesteatoma
facial nerve palsy
bacterial meningitis
neck and intracranial abscesses
sigmoid sinus thrombosis
What is acute mastoiditis?
a rare complication of AOM where continued inflammation of the mucosa of the middle ear leads to a mastoid abscess
What are the key symptoms of acute mastoiditis?
mastoid pain and tenderness
fluctuant erythematous retro-auricular swelling
auricle proptosis (abnormal protrusion of the pinna)
What is glue ear?
also known as otitis media with effusion (OTE), when the middle ear becomes full of fluid, causing hearing loss in that ear
What is seen on otoscopy in glue ear/OTE?
dull tympanic membrane with air bubbles or a visible fluid level, although it can look normal
What are grommets?
tiny tubes inserted into the tympanic membrane which allow fluid from the middle ear to drain through the tympanic membrane to the ear canal
What is the function of grommets?
to keep the middle ear aerated and prevent the accumulation of fluid in the middle ear
How long do grommets usually last?
grommets usually fall out within a year following insertion
only 1/3 of patients require further grommets to be inserted for persistent glue ear
What are the indications for grommets? x3
recurrent AOM
chronic otitis media + effusion
eustachian tube dysfunction
What is sensorineural hearing loss?
deafness caused by damage to the inner ear cochlear and 8th cranial nerve
usually present at birth
How is sensorineural hearing loss treated? x2
hearing aids
cochlear implants
What is conductive hearing loss?
deafness caused by impediment of the sound waves travelling from the outer ear/ear drum or across the ear ossicles
most often result of otitis media with effusion
What are the management options for conductive hearing loss? x4
grommets
bone conduction hearing aids
surgical bone anchored hearing aid
middle ear implants
What are some causes of conductive hearing loss?
- Glue ear
- Ear wax
- Otitis media
- Perforated ear drum
What is squint/strabismus?
any misalignment of the eyes resulting in the retinal image being in non-corresponding areas of both eyes
What is are the 2 main types of squint and what causes them?
concomitant (non-paralytic) squints are usually congenital and due to differences in the control of the extra-ocular muscles - severity varies
inconmitant (paralytic) squint is usually acquired through damage to the extraocular muscles of their nerves (much rarer)
What are the key presentations of concomitant squints in children?
intermittent closure of one eye
reduction of motor skills (in amblyonic children)
compensatory head tilt/chin lift
refractive error
media opacities like cataracts
retinal abnormalities e.g. retinoblastoma
What are the key presentations of paralytic squint?
diplopia
other presentations very depending on cause
What are the 3 screening tests needed to detect strabismus?
gross inspection
light reflex tests, including the bruckner test (inspection for a red reflex)
cover tests
What is the management for strabismus?
dependent on cause
- correction of refractive errors
- eye patching/cycloplegic drops
- prisms on glasses lens
- surgical alignment
- eye exercises
- miotic agents
- chemodenervation
What is the most common congenital heart defect?
Ventricular septal defect
What causes symptomatic presentation in VSD?
Most patients with VSD experience symptoms primarily because of the increased flow of blood through the pulmonary circulation.
Since the pressure in the left ventricle is greater than in the right ventricle, the majority of VSDs will be shunting left to right
What are the features of the acyanotic septal cardiac defects?
- left to right shunting, mixing of oxygenated blood with deoxygenated blood
- increased pulmonary blood flow –> risk of pulmonary hypertension and untreated acyanotic heart disease can lead to Eisenmenger syndrome
- lesions that are above the level of the nipple usually give rise to ejection systolic murmurs while lesions below the level of the nipple typically cause pan systolic murmurs
What are the haemodynamic consequences of VSD according to size?
Very small VSD - minimal flow of blood –> no significant increase in pulmonary blood flow, mostly asymptomatic
Moderate-sized VSD - flow of blood through the VSD is great enough to cause a significant increase in blood flow through the pulmonary circulation resulting in the left side of the heart receiving a greater volume of blood → dilatation of the L atrium and ventricle
Large VSDs - significant amount of blood flow through VSD → early heart failure and severe pulmonary hypertension, symptoms of cardiac failure are evident after the 1st weeks of life
What are the risk factors for VSD? x6
Maternal diabetes mellitus
Maternal rubella infection
Alcohol (FAS)
Family history of VSD
Congenital conditions such as Down’s syndrome, trisomy 18 syndrome, Holt-Oram syndrome
Some medications (weak evidence)
What are the key symptoms of the different sizes of VSD?
Small VSD = mild-no symptoms, systolic murmur is sometimes detected
Moderate VSD - excessive sweating, easily fatigable, tachypnoea,
Large VSD - similar symptoms to CHF: SOB, difficulty feeding, developmental issues, frequent chest infections
What are the differentials for VSD? x6
Mitral regurgitation
Tricuspid regurgitation
Atrial septal defect
Patent ductus arteriosus
Pulmonary stenosis
Tetralogy of Fallot
What is the management for VSD?
Small does not require treatment
Medical management - increased caloric intake, diuretics, ACE inhibitors, Digoxin
Surgical - medium to large defects causing significant symptoms may need surgery to close the defect - procedures include:
Surgical repair (open heart surgery under cardiopulmonary bypass)
Catheter procedure (uses a mesh device to close the hole)
Hybrid approach (small access through left ventricle for mesh closing device)
What is Eisenmenger’s syndrome?
where the pressure in R ventricle exceeds that of the L ventricle as a result of a significant gradual increase in the pulmonary vascular resistance → shunt reversal which causes decreased systemic O2 sats and cyanosis
What is the most common type of atrial septal defect?
patent foramen ovale
What are the risk factors for ASD? x6
Autosomal dominant inheritance
Family history of ASD
Maternal smoking in 1st trimester
Maternal diabetes
Maternal rubella
Maternal drug use (e.g. cocaine + alcohol)
What are the signs of a large ASD? x3
Tachypnoea
Poor weight gain
Recurrent chest infections
What are the signs of ASD on auscultation? x3
Soft ejection systolic murmur, best heard over pulmonary valve region
Wide, fixed split S2
Diastolic rumble in lower left sternal edge in pts with large ASD
What is the management for ASD?
If ASD <5mm, spontaneous closure should occur within 12 months of birth
Diuretics may be needed in children with heart failure
Surgical closure is the definitive management usually in patients with ASD>1cm
- Can be carried out percutaneously or open chest using cardiopulmonary bypass
What is the gold standard investigation for septal defects
transthoracic echocardiogram
What is the definition of heart failure?
A syndrome characterised by either or both pulmonary and systemic venous congestion and/or inadequate peripheral oxygen delivery, at rest or during stress, caused by cardiac dysfunction
What are the causes of heart failure in neonates? x3
Primarily caused by obstructed systemic circulation:
Hypoplastic left heart syndrome (left heart never fully developed)
Critical aortic valve stenosis
Severe coarctation of the aorta (severe narrowing)
Interruption of the aortic arch
What are the causes of heart failure in infants? x3
usually result of high pulmonary blood flow:
Ventricular septal defect
Atrioventricular septal defect
Large persistent ductus arteriosus
What are the causes of heart failure in older children/adolescents? x3
Eisenmenger syndrome (RHF only)
Rheumatic heart disease
Cardiomyopathy
What are the key symptoms of heart failure? x4
Breathlessness
sweating
Poor feeding
Recurrent chest infections
What are some signs of heart failure? x7
Poor weight gain and faltering growth
Tachypnoea
Tachycardia
Heart murmur, gallop rhythm
Enlarged heart
Hepatomegaly
Cool peripheries
What are the investigations for heart failure?
1st line: CXR, ECG
GS: Cardiac MRI
Blood biomarkers e.g. BNP
What are the 6T’s for the differential diagnoses of cyanotic lesiosn?
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
What is the nitrogen washout/hyperoxia test?
test used to differentiate cardiac from non-cardiac causes of cyanosis
when an infant is given 100% oxygen for 10 mins after which an ABG is taken
a pO2 of less than 15kPa indicates cyanotic congenital heart disease
What is the initial management for suspected cyanotic congenital heart disease?
supportive care
prostaglandin E1 e.g. alprostadil (used to maintain a patent ductus arteriosus)
What are the characteristic defects in Tetralogy of Fallot?
Ventricular septal defect
Pulmonary stenosis
Overriding aorta
Right ventricular hypertrophy
What are 4 conditions associated with TOF?
Down’s syndrome (40% have form of CHD)
DiGeorge syndrome
CHARGE syndrome
VACTERL association
How does TOF causes symptoms?
- The VSD allows blood to flow between the ventricles.
- Due to the overriding aorta (where the aortic valve is abnormally far right, above the VSD), when the right ventricle contracts and sends blood upwards the aorta is in the direction of travel of that blood therefore a greater proportion of deoxygenated blood enters the aorta from the right side of the heart.
- Stenosis of the pulmonary valve provides greater resistance against the flow of blood from the RV which encourages blood to flow through the VSD and into the aorta rather than taking the normal route into the pulmonary vessels
- Therefore the overriding aorta and pulmonary stenosis encourage blood to be shunted from the right heart to the left, causing cyanosis
- The increased strain on the right ventricle causes right ventricular hypertrophy, with thickening of the heart muscle
- These cardiac abnormalities cause a right to left cardiac shunt which means blood bypasses the child’s lungs and is not oxygenated as normal
What are some of the risk factors for TOF? x8
1st degree family history of Chd
Parent with TOF
Parent with DiGeorge syndrome
Foetal exposure to teratogens in utero (e.g. alcohol, warfarin and trimethadione)
Poorly controlled maternal diabetes
Maternal intake of retinoic acid
Congenital rubella infection
Increased maternal age (40+ years old)
What are the 3 major clinical subtypes of TOF?
TOF with mild pulmonary stenosis
(cyanosis usually develops around 1-3 years old)
TOF with pulmonary atresia
(presents with cyanosis and resp distress within first few weeks of life)
TOF with an absent pulmonary valve
(most severe –> cyanosis and respiratory distress within the first few hours of life)
What are the signs of TOF? x4
central cyanosis
clubbing
respiratory distress
signs on auscultation: thrill, heave, ejection systolic murmur in pulmonary area…
What are the investigations for TOF?
1st line: antenatal screening, clinical examination
GS: foetal echocardiogram
other: pulse oximetry, ECG, genetic testing, CXR
What is the management for TOF?
surgical intervention usually within the first year of life
some patients receive a bridging procedure before complete repair of the TOF
in some infants, a prostaglandin infusion is given to maintain a patent ductus arteriosus so that blood flow to the pulmonary circulation is maintained
What is a ‘tet’ spell?
a complication of an unrepaired TOF where there is sudden episode of profound cyanosis and hypoxia - can be fatal
What are the potential causes of ‘tet’ spells? x5
Decrease in O2 sats (e.g. crying, emotional/physical distress)
Decrease in systemic vascular resistance (e.g. while playing)
Increase in pulmonary vascular resistance
Tachycardia
Hypovolemia
What is the management for ‘tet’ spells?
1 - position the child with their knees at their chest
2 - give oxygen
3 - morphine to decrease resp drive
4 - IV fluids - increase pre-load and so increase volume of blood which flows into the pulmonary vessels
5 - BB’s - relaxes the R ventricle infundibulum and improves the flow of blood to the pulmonary vessels
6 - Phenylephrine infusion - increases systemic vascular resistance
7 - emergency ventricular outflow tract stent or BT shunt
8 - sodium bicarb if there is metabolic acidosis
What is rheumatic fever?
A systemic inflammatory disorder which arises as a complication following group A strep infection
What are the risk factors for rheumatic fever? x8
age (5-15 yr olds)
female
ethnicity - higher prevalence in indigenous populations in Australia and NZ
genetic susceptibility
prior or untreated infection with group A strep
low socioeconomic status
overcrowding and poor housing
What are the Jones criteria for RF diagnosis?
In order to establish a diagnosis of RF, there must be:
Evidence of recent group A strep infection
Positive throat swab
Positive rapid strep antigen test
Raised strep antibody titre
Recent episode of scarlet fever
Plus either:
2 major criteria
Or 1 major criterion and 2 minor criteria
What are the major Jones criteria for RF diagnosis?x5
Polyarthritis
Carditis (50% of patients) - could be pancarditis, endocarditis, myocarditis, pericarditis
Sydenham’s chorea (10% of patients)
Erythema marginatum
Subcutaneous nodules
What are the minor Jones criteria for RF diagnosis?
polyarthralgia
prolonged PR interval on ECG
Hx of RF
Fever
Raised inflamm markers
What are the differentials for rheumatic fever? x4 symptoms specific
Joints symptoms (reactive arthritis, juvenile idiopathic arthritis, HSP)
Cardiac disease (cardiomyopathy, Kawasaki disease, IE)
Chorea (Wilson’s disease, adverse drug reactions)
Skin changes (adverse drug reactions, lyme disease/erythema migrans, erythema multiforme)
What is the recommended management for rheumatic fever?
Bed rest is 1st line treatment even if patient feels well until CRP has returned to normal
If suspected active myocarditis limitation of exercise is strongly advised
Medical management:
Stat dose of IV benzylpenicillin followed by oral penicillin V for at least 10 days
High dose aspirin to limit inflam response
Acute heart failure requires combination of ACEi’s and diuretics
Prophylaxis:
After the initial attack the child should be followed up regularly and prophylactic treatment started to reduce the chance of any future attacks
What is the triad of features which indicate infective endocarditis
endothelial damage
platelet adhesion
microbial adherence
What are the main causative organisms for infective endocarditis? x3
staph aureus
strep viridans
strep pneumoniae
What are the key symptoms of infective endocarditis? x4
Persistent low-grade fever without clear cause
Heart murmur
Splenomegaly
Can also present in a non-acute or subacute form with non-specific symptoms like fatigue, malaise, weight loss, myalgia or even asymptomatic
What are the skin/nail changes indicative of infective endocarditis?
Petechiae
Osler’s nodes
Janeway lesions
Splinter haemorrhages
What is the gold standard test for IE?
echocardiogram
What is supraventricular tachycardia?
a rapid heart rate of between 250-300bpm caused by premature activation of the atrium via an accessory pathway resulting in a circuit of conduction
What is the management for supraventricular tachycardia?
sinus rhythm is restored by:
- Circulatory and respiratory support
- Vagal stimulation manoeuvres
- Intravenous adenosine (treatment of choice)
- Electrical cardioversion
following this maintenance therapy is required with flecainide or sotalol
What is the treatment for congenital complete heart block?
all children with symptoms require insertion of an endocardial pacemaker
What is the usual cause of congenital complete heart block?
usually related to the presence of anti-Ro or anti-La antibodies in the maternal serum
- this antibody appears to prevent normal development of the electrical conduction system in the developing heart, with atrophy and fibrosis of the AV node
- the mother will either have manifest or latent connective tissue disorders
What are the major complications of congenital complete heart block>
foetal hydrops
death in utero
neonatal heart failure
What is long QT syndrome?
a channelopathy caused by autosomal dominant gene mutations which results in abnormalities of the sodium, potassium, or calcium channels leading to a gain or loss of function
What are the risk factors for long QT syndrome? x3
erythromycin therapy, electrolyte disorders and head injury
What symptoms are associated with long QT syndrome?
sudden loss of consciousness during exercise, stress or emotion
What are the 3 fetal shunts? what structures do they connect/bypass?
ductus venosus - connects the umbilical vein to the IVC so that blood bypasses the liver
foramen ovale - connects the right atrium with the left atrium allowing blood to bypass the right ventricle and pulmonary circulation
ductus arteriosus - connects the pulmonary artery with the aorta so blood bypasses the pulmonary circulation
What changes occur in the foetal circulation at birth?
- At the first breath the alveoli expand decreasing the pulmonary vascular resistance
- this causes a fall in pressure in the right atrium so that the left atrial pressure > the right atrial pressure
- this squashes the atrial septum causing CLOSURE OF THE FORAMEN OVALE which becomes the fossa ovalis - Prostaglandins are required to keep the ductus arteriosus open.
- increased blood oxygenation causes a drop in circulating prostaglandins which causes CLOSURE OF THE DUCTUS ARTERIOSUS which becomes the ligamentum arteriosum - Immediately after birth the ductus venosus stops functioning because the umbilical cord is clamped and there is no flow in the umbilical veins
- the DUCTUS VENOSUM structurally CLOSES a few days later and becomes the ligamentum venosum
What are innocent murmurs?
very common in children
caused by fast blood flow through various areas of the heart during systole
What are the typical features of innocent murmurs? 5 S’s
Soft
Short
Systolic
Symptomless
Situation dependent
What are some common differentials for diarrhoea? x8
gastroenteritis
IBD
lactose intolerance
coeliac disease
cystic fibrosis
toddler’s diarrhoea
IBS
medications (e.g. antibiotics)
What does a patent ductus arteriosus sound like?
machinery murmur at the upper left sternal edge
What are some causes of chronic diarrhoea in infants? x4
most common: cow’s milk intolerance
toddler’s diarrhoea
coeliac disease
post-gastroenteritis lactose intolerance
What are the differentials of pan-systolic murmurs? x3
mitral regurgitation (heard at the 5th intercostal space, mid-clavicular line)
tricuspid regurgitation (heard at the 5th intercostal space, left sternal border)
ventricular septal defect (heard at the left lower sternal border)
What are the differentials of ejection-systolic murmurs? x3
aortic stenosis (heard at the 2nd intercostal space, right sternal border)
pulmonary stenosis (heard at the 2nd intercostal space, left sternal border)
hypertrophic obstructive cardiomyopathy (heard at the 4th intercostal space on the left sternal border)
What causes splitting of the 2nd heart sound?
a delay between the aortic and pulmonary valves closing - this occurs normally with inspiration in children as the chest wall and diaphragm pull the heart and lungs open and cause the right side of the heart to fill faster as it pulls in blood from the venous system
- the increased volume in the right ventricle causes it to take longer for the right ventricle to empty during systole, causing a delay in the pulmonary valve closing
What murmur is caused by an atrial septal defect?
mid-systolic crescendo-decrescendo murmur which is loudest at the upper left sternal border with a fixed split second heart sound
What murmur is caused by a patent ductus arteriosus?
small PDAs may not cause any abnormal heart sounds
more significant PDAs cause a normal 1st heart sound with a continuous crescendo-decrescendo “machinery” murmur that may continue during the second heart sound
What murmur is heart in tetralogy of Fallot ?
ejection systolic murmur due to pulmonary stenosis
What is GORD?
Gastro-oesophageal reflux disease where there is involuntary passage of gastric contents into the oesophagus which is non-self-limiting
What is the usual cause of GORD?
inappropriate relaxation of the lower oesophageal sphincter as a result of functional immaturity
it is common within the first year of life but almost all symptomatic reflux resolves spontaneously by 12 months of age
this is most likely due to a combination of maturation of the lower oesophageal sphincter, assumption of an upright posture and more solids in the diet.
What are some risk factors for GORD? x4
cerebral palsy
neurodevelopmental disorders
preterm infants, especially those with bronchopulmonary dysplasia
surgery for oesophageal atresia or diaphragmatic hernia
What are some key symptoms of GORD? x6
Recurrent regurgitation and vomiting
Oesophagitis
Recurrent pulmonary aspiration
Apparent life-threatening events
Chronic cough
Hoarse cry
What are some signs of GORD in children? x4
poor weight gain
distress, crying or unsettled after feeding
faltering growth from severe vomiting
dystonic neck posturing (Sandifer’s syndrome)
What is the management for GORD?
Feed thickening
Acid suppression with either hydrogen receptor antagonists (e.g. ranitidine) or PPIs (omeprazole)
Surgical management is reserved for children complications unresponsive to intensive medical treatment for esophageal stricture (Nissen fundoplication = fundus of the stomach is wrapped around the intra-abdominal oesophagus)
What is pyloric stenosis?
hypertrophy and consequent narrowing of the gastric pylorus
What is the pathophysiology of pyloric stenosis?
The muscles of the gastric pylorus are abnormally thickened causing narrowing and prevention of food travelling from the stomach to the duodenum as normal.
after feeding there is increasingly powerful peristalsis in the stomach as it tries to push food into the duodenum. Eventually it becomes so powerful that it ejects the food into the oesophagus and out of the mouth i.e. projectile vomiting.
What are the key symptoms of pyloris stenosis? x3
Projectile, non-bilious vomiting
Increased hunger
Thin, pale and generally failing to thrive
What are the signs of pyloric stenosis on examination? x2
visible gastric peristalsis
palpable abdominal mass on test feed
What are the investigations for pyloric stenosis?
Clinical examination, Blood gas analysis (indicates hypochloremic metabolic alkalosis due to vomiting of hydrochloric acid from the stomach)
Abdominal ultrasound (GS)
What is the management for pyloric stenosis?
IV fluids to correct any fluid/electrolyte imbalances
Laparoscopic pyloromyotomy (Ramstedt’s operation)
What is gastroenteritis?
Inflammation from the stomach to the intestines which presents with nausea, vomiting and diarrhoea
What are the most common causes of gastroenteritis?
Most commonly viral cause: rotavirus, norovirus (highly contagious)
Bacterial causes: E. coli, Campylobacter jejuni, shigella, salmonella
What is the management for gastroenteritis?
Extremely contagious so strict infection control and barrier nursing are key in hospital management
Fluid challenge
Antidiarrheals like loperamide
Antiemetic medications like metoclopramide
Antibiotics should only be given in patients who are at risk of complications once the causative organism is confirmed
What are some potential complications of gastroenteritis? x4
lactose intolerance, IBS, reactive arthritis, GBS
How would you define constipation?
The infrequent passage of dry, hardened faeces often accompanied by straining or pain and bleeding associated with hard stools. Can also be associated with abdominal pain, which comes and goes with passage of stool or overflow soiling.
What are some risk factors for constipation? x6
Habitually not opening bowels
Low fibre diet
Poor fluid intake and dehydration
Sedentary lifestyle
Psychosocial problems such as difficult home or school environment
What are some underlying conditions which can result in constipation? x6
Hirschsprung disease,
lower spinal cord problems,
anorectal abnormalities,
hypothyroidism,
coeliac disease and
hypercalcaemia
What is the recommended management for constipation?
Correct any reversible contributing factors, recommend a high fibre diet and good hydration
Start laxatives (movicol is first line)
Faecal impaction may require a disimpaction regimen with high doses of laxatives at first
Toilet training/encouragement. This could involve scheduling visits, a bowel diary and star charts.
What are the red flag symptoms for constipation? x5
failure to pass meconium within first 24 hrs of life (Hirschsprung’s disease)
gross abdominal distension,
abnormal lower limb neurology or deformity
Sacral dimple above natal cleft, over the spine
Abnormal appearance/position/patency of anus
What are the key symptoms of appendicitis? x7
Abdominal pain (typically central abdominal pain which moves down to the right iliac fossa and then becomes localised there)
Loss of appetite
Nausea + vomiting
Rovsing’s sign
Guarding on abdominal palpation
Rebound tenderness
Percussion tenderness
What are the investigations for appendicitis?
Clinical presentation, CT scan
Diagnostic laparoscopy (can be progressed to appendectomy)
What are some differentials for appendicitis? x5
Ectopic pregnancy
Ovarian cysts
Meckel’s diverticulum
Mesenteric adenitis
Appendix mass
What is intussusception?
The invagination of the proximal bowel into a distal segment.
Most commonly involves ileum passing into the caecum through the ileocaecal valve
It is the most common cause of intestinal obstruction in infants after the neonatal period
What age range is peak presentation of intussusception?
3months - 2 years
What are some risk factors for intussusception? x5
Concurrent viral illness
Henoch-Schonlein purpura
Cystic fibrosis
Intestinal polyps
Meckel diverticulum
What are some key symptoms of intussusception? x6
paroxysmal , severe colicky pain with pallor
Refusal of feeds
Vomiting
Sausage shaped mass which may be palpable in the abdomen
Red-currant jelly stool comprising blood stained mucus
Abdominal distension and shock
What are the investigations for intussusception?
Abdo XR
GS: Abdo USS or contrast enema
What is the management for intussusception?
Iv fluid resuscitation is likely to be required
Reduction is attempted by rectal air insufflation unless peritonitis is present
Surgery is required if reduction with air is unsuccessful or for peritonitis
What is a serious potential complication of intussusception?
stretching and constriction of the mesentery resulting in venous obstruction causing engorgement and bleeding from the bowel mucosa, fluid loss and bowel perforation, peritonitis and gut necrosis
What is coeliac disease?
An autoimmune condition where exposure to gluten causes an immune reaction which creates inflammation in the small intestine
Usually develops in early childhood but can start at any age
What are the 2 main antibodies responsible for coeliac?
The 2 main antibodies are anti-tissue transglutaminase (anti-TTG) and anti-endomysial (anti-EMA)
What is the pathophysiology of coeliac disease?
In coeliac disease autoantibodies are created in response to exposure to gluten
These autoantibodies target the epithelial cells of the intestine and lead to inflammation
Inflammation affects the small bowel, particularly the jejunum. It causes atrophy of the intestinal villi. The intestinal cells have villi on them that help with absorbing nutrients from the food passing through the intestine. The inflammation causes malabsorption of nutrients and disease related symptoms.
What are the risk factors for coeliac disease? x6
Type 1 diabetes
Thyroid disease
Autoimmune hepatitis
Primary biliary cirrhosis
Primary sclerosing cholangitis
Down’s syndrome
What are some key symptoms of coeliac disease? x6`
Failure to thrive (young children)
Diarrhoea
Fatigue
Weight loss
Mouth ulcers
Anaemia secondary to iron, B12 or folate deficiency
What are the investigations used to diagnose coeliac disease?
Investigations must be carried out whilst the patient remains on a diet containing gluten otherwise it may not be possible to detect the antibodies or bowel inflammation
Check total immunoglobulin A levels to exclude IgA deficiency
Check anti-TTG and anti-endomysial antibodies
GS: Endoscopy and intestinal biopsy (show crypt hypertrophy and villous atrophy)
What is the management for coeliac disease?
lifelong gluten free diet
disease monitoring
What are the complications of untreated coeliac disease? x7
Vitamin deficiency
Anaemia
Osteoporosis
Ulcerative jejunitis
Enteropathy-associated T-cell lymphoma (EATL) of the intestine
Non-Hodgkin lymphoma (NHL)
Small bowel adenocarcinoma (rare)
What is the definition of failure to thrive?
poor physical growth and development in a child
What is the definition of faltering growth?
the failure to gain adequate weight or achieve adequate growth during infancy and childhood.
weight that has fallen down 2 centile lines
What are the thresholds for concern with faltering growth?
One or more centile spaces if their birth weight was below the 9th centile
Two or more centile spaces if their birth weight was between the 9th and 91st centile
Three or more centile spaces if their birth weight was above the 91st centile
What are some causes of failure to thrive? x5
Inadequate nutritional intake
Difficulty feeding
Malabsorption
Increased energy requirements
Inability to process nutrition
What are some causes of inadequate nutrition? x4
Maternal malabsorption if breastfeeding
Iron deficiency anaemia
Neglect
Availability of food (i.e. poverty)
What are some causes of malabsorption? x5
Cystic fibrosis
Coeliac disease
Cows milk intolerance
Chronic diarrhoea
Inflammatory bowel disease
What are some causes of increased energy requirements? x4
Hyperthyroidism
Chronic disease, for example congenital heart disease and cystic fibrosis
Malignancy
Chronic infections e.g. HIV or immunodeficiency
What are the recommended investigations for faltering growth? x2
Urine dipstick for UTI
Coeliac screen
What is the recommended management for inadequate nutrition in children?
Encourage regular structured mealtimes and snacks
Reduce milk consumption to improve appetite for other foods
Review by a dietician
Additional energy dense foods to boost calories
Nutritional supplements drinks
What is the definition of malnutrition?
the cellular imbalance between the supply of nutrients and energy and the body’s demand for them to ensure growth, maintenance, and specific functions.
Why are pre-school age children at increased risk of malnutrition?
because of their dependence on others for food, increased protein and energy requirements, immature immune systems causing a greater susceptibility to infection, and exposure to unhygienic conditions
What is PEM?
Protein-energy malnutrition - a group of related disorders which include marasmus, kwashiorkor and intermediate states of marasmus-kwashiorkor
What is the definition of kwashiorkor?
a PEM disorder characterised by nutritional oedema and metabolic disturbances, including hypoalbuminemia and hepatic steatosis
What is the typical presentation of a child with kwashiorkor?
peripheral pitting oedema, “moon facies”, hepatomegaly, pursed mouth
What is the pathophysiology of kwashiorkor?
adequate carbohydrate consumption and reduced protein intake in kwashiorkor which leads to decreased synthesis of important proteins
The resulting hypoalbuminaemia contributes to extravascular fluid accumulation
Impaired synthesis of B-lipoprotein produces a fatty liver
Diarrhoea and psychomotor changes are also seen
Skin becomes dark, dry and splits open when stretched (enamel paint skin)
What is the definition of marasmus
= an adaptive response to starvation characterised by severe wasting
What is the typical presentation of marasmus?
low weight-for-height and have a reduced mid-upper arm circumference, as well as a head which appears large relative to the rest of their body, also dry skin, thin hair, irritability
What is the pathophysiology of marasmus?
Occurs when there is an insufficient energy intake to match the body’s requirements
This results in the body using its own stores which results in emaciation
“Monkey facies” as a result of loss of buccal fat pads
The skin is xerotic, wrinkled and loose
Fine, brittle hair, alopecia, impaired growth, nail fissuring
What is the management for PEM disorders?
Priority is correcting fluid and electrolyte imbalances and treatment of any infections
Macronutrient repletion should be commenced within 48 hrs
Topical zinc paste can be used to heal areas of skin breakdown in kwashiorkor
Dietary therapy
What is Hirschsprung’s disease?
A congenital condition where nerve cells of the myenteric plexus are absent in the distal bowel and rectum
What is the key pathophysiology of hirschsprung’s disease?
the absence of parasympathetic ganglion cells which results in inability of the aganglionic section to relax so it becomes constricted and movement of faeces is lost → bowel obstruction
Which conditions are associated with Hirschsprung’s disease? x4
Downs syndrome
Neurofibromatosis
Waardenburg syndrome
Multiple endocrine neoplasia type II
What are the symptoms of Hirschsprung’s disease? x6
Variable presentation
Delay in passing meconium (more than 24hrs)
Chronic constipation since birth
Abdo pain and distension
Vomiting
Poor weight gain and failure to thrive
What are the investigations for Hirschsprung’s disease?
Abdominal x-ray
GS: Rectal biopsy
What is the management for Hirschsprung’s disease?
Unwell children + those with enterocolitis will require fluid resuscitation and management of intestinal obstruction
IV antibiotics are required in HAEC
Definitive management is by surgical removal of the aganglionic section of the bowel
What is biliary atresia?
A congenital condition where a section of the bile duct is either narrowed or absent.
This results in cholestasis, where the bile cannot be transported from the liver to the bowel.
Conjugated bilirubin is excreted into the bile, therefore biliary atresia prevents the excretion of conjugated bilirubin.
What are the symptoms of biliary atresia? x6
Significant persistent jaundice shortly after birth (high conjugated bilirubin levels)
Pale stools and dark urine
Pruritus
Normal birth weight followed by faltering growth
Hepatomegaly is often present initially
Splenomegaly develops due to portal hypertension
What are the investigations for biliary atresia?
Unconjugated and conjugated bilirubin, fasting abdo USS
GS: ERCP
Liver biopsy
What is the management for biliary atresia?
Kasai portoenterostomy is the only treatment for biliary atresia and involves attaching a section of the small intestine to the opening of the liver where the bile duct normally attaches.
This is somewhat successful and can clear the jaundice and prolong survival however the disease progresses in most children who may develop cholangitis and cirrhosis with portal hypertension.
Nutrition and fat-soluble vitamin supplementation is essential
Definitive treatment is a full liver transplant
What is a choledochal cyst?
Congenital cystic dilatations of the extrahepatic biliary system
What are the symptoms of choledochal cysts?
Neonatal jaundice and acholic stools
In older children: abdo pain, RUQ palpable mass, jaundice or cholangitis
What are the investigations for choledochal cysts
FBC, LFTs, amylase and lipase, serum chemistry
GS: Abdo USS/MRCP
What is the management for choledochal cysts
Surgical excision of the cyst with the formation of a Roux-en-Y anastomosis to the biliary duct
What are some of the potential triggers in IBS? x5
- food poisoning/gastroenteritis
- stress
- irregular eating or abnormal diet
- certain medications
- interaction between the brain and gut
What are some risk factors for IBS? x3
Family history
physical /sexual abuse
PTSD
What are some of the symptoms of IBS? x5
Non-specific abdominal pain (often periumbilical and may be relieved by defecation)
Explosive, loose, or mucousy stools
Bloating
Feeling of incomplete defecation
Constipation (often alternating with normal or loose stools)
What is the management for IBS? (conservative, moderate and severe)
Conservative = patient/parent education (diet changes) + reassurance
Moderate = IBS-C → laxatives (e.g. senna), IBS-D → antimotility drug (loperamide)
Severe = TCA (tricyclic antidepressants e.g. amitriptyline) + consider CBT/GI referral
What is Crohn’s disease?
Transmural (all 4 layers) autoimmune inflammation affecting the whole GI tract, especially terminal ileum + proximal colon (usually rectum spared).
Associated with skip lesions on endoscopy
What are the key symptoms of Crohn’s disease? x5
Abdominal pain
Diarrhoea
Weight loss
Fever
Lethargy
What are the investigations for Crohns?
pANCA -ve (may be ASCA +ve)
Faecal calprotectin ↑
Biopsy = transmural inflammation with non-caseating granulomas
Endoscopy - skip lesions, cobblestoned appearance of GI tract, string sign (narrowing of GI tract)
What is the management for Crohn’s?
nutritional therapy to induce remission (whole protein modular feeds for 6-8 weeks)
systemic steroids if nutritional therapy ineffective
immunosuppressant medications e.g. azathioprine, mercaptopurine or methtrexate to maintain remission
Anti-tumour necrosis factor agents (infliximab or adalimumab) when no response to conventional treatments
surgery can be indicated for complications like obstructions, fistulae, abscesses
What is ulcerative colitis?
recurrent, inflammatory and ulcerating disease involving the colonic mucosa
Which gene and antibody are associated with UC?
HLAB27 and pANCA
What are the key symptoms of UC? x3
rectal bleeding
diarrhoea
colicky pain
What are the systemic/non-GI signs of UC? x5
weight loss
growth failure
uveitis/episcleritis
erythema nodosum
arthritis
What are the investigations for UC?
pANCA +ve
Faecal calprotectin ↑ (non-specific)
Biopsy = mucosal inflammation with crypt hyperplasia
Colonoscopy = continuous, “lead pipe” sign (loss of haustrations)
What scoring system is used to assess the severity of UC flares?
Severity of flares are assessed by Trueglove + Witts scoring (mild/moderate/severe)
What is the management for UC?
Aminosalicylates (e.g. mesalazine) are used for induction and maintenance therapy
Disease confined to the rectum and sigmoid colon (rare in children) may be managed with topical steroids
More aggressive or extensive disease requires systemic steroids for acute exacerbations and immunomodulatory therapy e.g. azathioprine alone to maintain remission or in combination with low-dose corticosteroid therapy
Biologics may be used in therapy resistant disease
Colectomy with an ileostomy or ileorectal pouch is undertaken for severe fulminating disease, which may be complicated by a toxic megacolon, or for chronic poorly controlled disease
What is Meckel’s diverticulum?
an ileal remnant of the vitello-intestinal duct which contains ectopic gastric mucosa or pancreatic tissue
What are the usual presentations of Meckel’s diverticulum?
severe rectal bleeding with an acute reduction in haemoglobin
intussusception
volvulus
diverticulitis
What is the investigation for Meckel’s diverticulum?
Technetium scan will demonstrate increased uptake by ectopic gastric mucosa in 70% of cases
What is the treatment for Meckel’s diverticulum
surgical resection
What is toddler’s diarrhoea?
chronic nonspecific diarrhoea with 3+ loose watery stools per day
Child is otherwise well and usually resolves on its own
What is colic?
paroxysmal, inconsolable crying or screaming often accompanied by drawing up of the knees and passage of excessive flatus several times a day
What is the management of colic?
parental reassurance and support but no medical treatments needed
At what age is colic usually seen?
first few weeks of life until 3-12 months
What is the definition of a cow’s milk allergy?
reproducible immune-mediated allergic response to one or more proteins in cow’s milk
At what age does cow’s milk allergy usually present?
in the first 3 months of life in formula fed infants
What are the signs/symptoms of cow’s milk allergy?
Regurgitation and vomiting
Diarrhoea
urticaria , atopci eczema
‘Colic’ symptoms - irritability, crying
Wheeze, chronic cough
Rarely angioedema and anaphylaxis may occur
What are the investigations for cow’s milk allergy?
Diagnosis is most often clinical (e.g. improvement of symptoms with cow’s milk protein elimination)
Skin prick/patch testing
Total IgE and specific IgE rapid antigen spot testing (RAST) for cow’s milk protein
What is the management for cow’s milk allergy? formula vs breast-fed
formula fed
- extensive hydrolysed formula milk
- if no response to eHF, amino acid-based formula in infants with severe CMPA
breastfed
- continue breastfeeding
- eliminate cow’s milk protein from maternal diet
- use eHF milk when breastfeeding stops
What symptoms and signs are seen with neonatal hepatitis syndrome?
Baby has intrauterine growth restriction,
Jaundice,
failure to thrive,
itchy rash,
dark urine
hepatomegaly
What are the signs of liver biopsy of neonatal hepatitis syndrome?
raised unconjugated and conjugated bilirubin
multinucleated giant cells + Rosette formation
What are the 2 main causes of physiological jaundice in newborns?
foetal haemoglobin
- this has a shorter lifespan than adult haemoglobin and is constantly being broken down
- the newborn liver cannot cope with the large volumes of bilirubin resulting in build up in the blood
breastfeeding jaundice
- breastfed babies are often more jaundiced, and for longer than bottle-fed babies
What are some causes of acugte liver failure in children <2yrs old?
infection
metabolic disease
seronegative hepatitis
drug-induced
neonatal
haemochromatosis
What are febrile convulsions/seizures?
a seizure accompanied by a fever in the absence of intracranial infection
Between what ages do febrile seizures usually occur?
6 months to 5 years
What are some differential diagnoses for febrile seizures? x6
- epilepsy
- meningitis, encephalitis or other neurological infection
- intracranial space occupying lesions e.g. brain tumours, intracranial haemorrhage
- syncopal episode
- electrolyte abnormalities
- trauma
What is the typical presentation of a febrile convulsion?
child around 6 months presenting with a 2-5 min tonic-clonic seizure during a high fever
What’s the difference between simple and complex febrile convulsions? how is the management different?
simple = generalised, tonic clonic seizures, <15 min and only occur once during single febrile illness
- management is reassurence and education
complex = partial or focal seizures, >15 mins, occur multiple times during one febrile illness
- may need further investigation and hospitalisation
What are infantile spasms?
also known as West syndrome
a rare disorder characterised by clusters of full body spasms which start around 6 mo age
What is the prognosis and treatment for infantile
poor prognosis : 1/3 die by 25 yrs, 1/3 seizure free
treatment:
prednisolone
vigabatrin
What are blue breath-holding spells? can they be treated?
occur in some toddlers when they are upset
the child cries, holds his breath in expiration and goes blue
sometimes children will briefly lose consciousness but rapidly fully recover
drug therapy is not helpful but behaviour modification therapy with distraction may help
What is reflex asystolic syncope?
also known as reflex anoxic seizures where the child becomes pale and falls to the floor following a trigger - the hypoxia may induce a generalised tonic-clonic seizure
occur in infants and toddlers
commonest trigger = pain or discomfort particularly from minor head trauma, cold food, fright or fever
What are the main features of ADHD? x6
Very short attention span
Quickly moving from one activity to another
Quickly losing interest in a task and not being able to persist with challenging tasks
Constantly moving or fidgeting
Impulsive behaviour
Disruptive or rule breaking
What causes ADHD?
ADHD is most likely caused by a complex interplay of factors:
neurobiologic (neuroanatomical and neurochemical)
genetic influences
environmental/psychosocial factors
CNS insults (such as perinatal factors, CNS infections, FAS or premature.)
Research repeatedly demonstrates that ADHD runs in families
What are the 3 core behaviours of ADHD?
- Hyperactivity.
- Inattention.
- Impulsivity.
(HII)
These symptoms occur in every child from time to time but when they are persistent and impact on daily functions, more investigation is needed
ADHD core behaviours: give 3 signs of hyperactivity.
Fidgety.
Talkative.
Noisy.
Can’t remain seated.
Often ‘On the go’ or acts as if driven by a motor
ADHD core behaviours: give 3 signs of impulsivity.
Blurts out answers.
Interrupts.
Difficulty waiting turns.
When older, pregnancy and drug use.
ADHD core behaviours: give 3 signs of inattention.
Easily distracted.
Not listening.
Mind wandering.
Struggling at school.
Forgetful.
Organisational problems.
Does not appear to be listening when spokento directly
Makes careless mistakes
Loses important items
What tools can be used to diagnose ADHD?
Clinical interview - are there any RF’s for ADHD?
ADHD nurse classroom observation.
Questionnaires (SNAP), Conor’s questionaire
Quantitative behavioural (QB) analysis.
What is the treatment for ADHD?
Education.
Parenting programmes and school support.
Medications e.g. methylphenidate. (Conerta, Equaysm), or Lisdexamfetamine (Elvanse)
What is cryptorchidism
undescended testes
what are some risk factors for cryptorchidism?
Preterm birth
Family history
Low birth weight
Small for gestational age
Maternal smoking during pregnancy
what is the management for cryptorchidism in newborns?
Watching and waiting is appropriate in newborns as most will descend within the first 3-6 months
At what age should children with unilateral cryptorchidism be referred?
consider from 3 months
baby should see urological surgeon at 6 months
what percentage of boys have undescended testes at birth? where may they be instead?
In about 5% of boys the testes have not made it out of the abdomen by birth. At this point they are called undescended testes.
They might be palpable in the inguinal canal (in the inguinal region), which is not technically classed as undescended testes, although they have not fully descended at that point.
what are some potential complication of untreated cryptorchidism?
Undescended testes in older children or after puberty hold a higher risk of testicular torsion, infertility and testicular cancer.
what is the treatment for cryptorchidism?
orchidoplexy (surgical correction) should be carried out between 6-12 months of age
what is testicular torsion?
twisting of the spermatic cord with rotation of the testicle which leads to ischaemia and eventually necrosis
urological emergency with 6 hour window after onset before ischaemic damage is irreversible
what are the examination findings with testicular torsion? x5
Firm swollen testicle
Elevated (retracted) testicle
Absent cremasteric reflex
Abnormal testicular lie (often horizontal)
Rotation, so that epididymis is not in normal posterior position
What symptoms are associated with testicular torsion?
rapid onset unilateral testicular pain
abdo pain
vomiting
What is a bell clapper deformity?
one of the causes of testicular torsion
where the fixation between the testicle and the tunica vaginalis is absent so the testicle hangs in a horizontal position (like a bell-clapper) instead of the typical more vertical position
it is able to rotate within the tunica vaginalis, twisting at the spermatic cord
what is the management for testicular torsion?
urological emergency!
nil by mouth (in preparation for surgery)
analgesia
urgent senior urology assessment
surgical exploration of the scrotum
orchiopexy (correcting the position of the testicles and fixing them in place)
orchidectomy (removing the testicle) - if there is necrosis
What sign can be seen on scrotal ultrasound to confirm testicular torsion?
whirpool sign (spiral appearance to the spermatic cord and blood vessels)
What is a hydrocele?
Hydrocele refers to a collection of serous fluid between the parietal and visceral layers of the tunica vaginalis (membrane covering the testes).
what is the difference between simple and communicating hydroceles?
Simple - overproduction of fluid in the tunica vaginalis
Communicating - processus vaginalis fails to close, allowing peritoneal fluid to communicate freely with the scrotal portion
What is the management for a hydrocele?
Management
Resolve spontaneously
Many of infancy resolve by 2 years
Therapeutic aspiration or surgical removal
What is an epididymal cyst?
Smooth, extra-testicular, spherical sac of fluid in the head of the epididymis (top of testicle). - also known as a spermatocele
What are some investigations/differentials/management for an epididymal cyst?
Investigations
- Scrotal ultrasound
Differential diagnosis
- Hydrocele
- Varicocele
Management
- Usually not necessary
- Removed, if symptomatic
What is the definition of precocious puberty?
development of secondary sexual characteristic before 8 years of age in females and 9 years of age in males
what are the 2 categories of precocious puberty?
gonadotrophin dependent (true precocious puberty) - caused by premature activation of the HPG axis - consonant (normal) sequence of pubertal development
gonado-trophin independent (false precocious puberty) - caused by excess sex steroids outside the pituitary gland - dissonant sequence of pubertal development
what are some causes of precocious puberty in girls?
usually idiopathic or familial
gonadotrophin-independent causes e.g. congenital adrenal hyperplasia or adrenal tumours
gonadotrophin-dependent causes e.g. pituitary adenoma
What are the most common causes of precocious puberty in males?
more likely to be pathological
gonadotrophin-dependent causes e.g. intracranial tumour or rarely a liver tumour secreting beta-human chorionic gonadotrophin
gonadotrophin-independent causes e.g. adrenal adenoma, congenital adrenal hyperplasia, gonadal tumour
What is the management for precocious puberty?
detection and treatment of any underlying pathology
reducing the rate of skeletal maturation
addressing psychological/behavioural difficulties associated with early progression through puberty
What are the causes of congenital hypothyroidism?
- maldescent of the thyroid and athyrosis
- dyshormonogenesis (inborn error of thyroid hormone synthesis)
- iodine deficiency
- TSH deficiency
give 5 clinical features of congenital hypothyroidism?
- faltering growth
- feeding problems
- prolonged jaundice
- constipation
- pale, cold, mottled
dry skin - coarse facies
- large tongue
- hoarse cry
- goitre (occasionally)
- umbilical hernia
- delayed
development
How is congenital hypothyroidism usually detected?
routine neonatal biochemical screening (Guthrie test) performed on all newborn infants, by identifying a raised TSH in the blood
What is the treatment for congenital hypothyroidism?
levothyroxine before 2-3 weeks of age (needed this early to prevent impaired neurodevelopment)
- treatment is lifelong
What are the 2 types of hypogonadism?
Hypogonadotrophic hypogonadism (secondary): a deficiency of LH and FSH
Hypergonadotrophic hypogonadism (primary): a lack of response to LH and FSH by the gonads (the testes and ovaries)
What are some causes of hypogonadotrophic hypogonadism?
- Systemic disease:
– cystic fibrosis, severe asthma, Crohn’s disease, organ failure, anorexia nervosa, starvation, excess physical training - Hypothalamo-pituitary disorders:
– pituitary dysfunction
– isolated gonadotrophin or growth hormone
deficiency
– intracranial tumours (including
craniopharyngioma)
What are some causes of hypergonadotrophic hypogonadism?
- Chromosomal abnormalities:
– Klinefelter syndrome (47,XXY)
– Turner syndrome (45,XO) - Steroid hormone enzyme deficiencies
- Acquired gonadal damage:
– postsurgery, chemotherapy, radiotherapy, trauma, torsion of the testis, autoimmune disorder
What are some investigations used when diagnosing hypogonadism?
when there is no evidence of pubertal changes in a girl aged 13 or a boy aged 14
Full blood count and ferritin for anaemia
U&E for chronic kidney disease
Anti-TTG or anti-EMA antibodies for coeliac disease
Early morning serum FSH and LH (the gonadotropins).
Thyroid function tests
Growth hormone testing. Insulin-like growth factor I is often used as a screening test for GH deficiency.
Serum prolactin
Genetic testing for:
Kleinfelter’s syndrome (XXY)
Turner’s syndrome (XO)
What would the early morning FSH and LH levels look like in Hypogonadotrophic hypogonadism and hypergonadotrophic hypogonadism?
When would imaging be useful, and where?
Early morning serum FSH and LH (the gonadotropins). These will be low in hypogonadotrophic hypogonadism and high in hypergonadotrophic hypogonadism.
Imaging can be useful:
Xray of the wrist to assess bone age and inform a diagnosis of constitutional delay
Pelvic ultrasound in girls to assess the ovaries and other pelvic organs
MRI of the brain to look for pituitary pathology and assess the olfactory bulbs in possible Kallman syndrome
What is Kallman syndrome?
a genetic form of hypogonadotrophic hypogonadism, which prevents a person from starting or fully completing puberty
what feature of Kallman’s syndrome distinguishes it from other forms of hypogonadotrophic hypogonadism?
total lack of sense of smell or a reduced sense of smell
What is the treatment for Kallman’s syndrome?
hormone replacement therapy to replace testosterone or oestrogen and progesterone
WHat inheritance pattern is seen in Kallman syndrome?
x-linked recessive or dominant
what is congenital adrenal hyperplasia?
congenital deficiency of the 21-hydroxylase enzyme which causes underproduction of cortisol and aldosterone and overproduction of androgens from birth
what is the inheritance pattern of congenital adrenal hyperplasia?
autosomal recessive
briefly describe the pathophysiology of CAH
21-hydroxylase is the enzyme responsbile for converting progesterone into aldosterone and cortisol
progesterone is used to make to testosterone but this process does not involve 21-hydroxylase
in CAH, a defect in this enzyme results in more progesterone floating around which cant be converted into aldosterone or cortisol so it gets converted into testosterone instead
this results in a patient with low aldosterone, low cortisol and abnormally high testosterone
What it the presentation of CAH in severe cases
in female patients, CAH usually present at birth with virilised genitalia, known as ambiguous genitalia and an enlarged clitoris due to the high testosterone levels
patients with more severe CAH present shortly afetr birth with hyponatraemia, hyperkalaemia and hypoglycaemia
this leads to signs and symptoms:
Poor feeding
Vomiting
Dehydration
Arrhythmias
What is the presentation of mild CAH in females
tall for their age
facial hair
absent periods
deep voice
early puberty
What is the presentation of mild CAH in males?
tall for their age
deep voice
large penis
small testicles
early puberty
why is skin hyperpigmentation a sign of CAH?
the anterior pituitary gland responds to the low levels of cortisol by producing increasing amounts of ACTH
a byproduct of the production of ACTH is melanocyte stimulating hormone
this hormone stimulates the production of melanin within skin cells
what is androgen insensitivity syndrome ?
an x-linked recessive genetic condition where cells are unable to respond to androgen hormones due to a lack of androgen receptors
previously known as testicular feminisation syndrome
What is the presentation of androgen insensitivity syndrome?
genetically male patients with an externally female phenotype (normal female external genitalia and breast tissue) due to absent response to testosterone
patients have testes in the abdomen or inguinal canal and no internal female organs
no pubic or facial hair or male muscle development
infertile
What is partial androgen insensitivity syndrome and how does it present?
the cells have a partial response to androgens so have more ambiguous signs and symptoms such as micropenis or clitoromegaly
What are the results of hormone tests in androgen insensitivity syndrome?
Raised LH
Normal or raised FSH
Normal or raised testosterone levels (for a male)
Raised oestrogen levels (for a male)
What is the management for androgen insensitivity syndrome?
MDT support
bilateral orchidectomy to avoid testicular tumours
oestrogen therapy
vaginal dilators or vaginal surgery
generally patients are raised female but this is sensitive and tailored to the individual
What is the action of sodium valproate in epilepsy treatment?
increases the activity of GABA which has a relaxant affect on the brain by stopping the release of excitatory neurotransmitters
What is status epilepticus?
medical emergency defined as seizures lasting more than 5 minutes or more than 3 seizures in one hour
What is epilepsy?
an umbrella term for chronic conditions where patients have a tendency to have recurrent, unprovoked epileptic seizures
What are seizures>
Transient episodes of abnormal electrical in the brain which cause changes in behaviour, sensation or cognitive processes
What is a focal seizure?
originates in one hemisphere, retained awareness or impaired awareness, usually 2 minutes or less
What are examples of focal seizures?
focal aware seizure, focal impaired awareness seizure
What are examples of generalised seizures?
tonic-clonic, absence, myoclonic, tonic, atonic
What are the risk factors for epilepsy?
FHx
CNS infection history
Head trauma
Prior seizure events/suspected seizure events
Hx of substance use
Premature birth
Multiple or complicated febrile seizures
What are the stages of an epileptic seizure?
prodrome = mood changes, days before
aura = minutes before, deja vu + automatisms (lip smacking, rapid blinking) - not always present (most commonly seen in temporal lobe epilepsy)
ictal event = seizure
post-ictal period = symptoms such as headache, confusion, ↓GCS, Todd’s paralysis, dysphasia, amnesia, sore tongue (pts bite tongue during ictal phase)
What are the positive ictal symptoms?
loss of awareness
memory lapse
feeling confused
difficulty hearing
odd smells, sounds or tastes
loss of muscle control
changes in speech/ability to speak
What are examples of post-ictal symptoms?
confusion
amnesia
drowsiness
hypertension
headache
nausea
What are some other common features of epileptic seizures?
can occur from sleep
can be associated with other brain dysfunction
lateral tongue bite
deja vu
incontinence
What are the investigations for epilepsy?
EEG, ECG, CT head + MRI
How many seizures must a patient have had for epilepsy diagnosis to be considered?
2+
What is the management for epilepsy?
aim is to be seizure free on the minimum anti-epileptic medications
1st line = sodium valproate
What are the features of generalised tonic-clonic seizures?
no aura
loss of consciousness
tonic (muscle tensing, fall to floor) and clonic (muscle jerking) episodes
typically tonic before clonic
eyes open and upward gazing
incontinence
tongue biting
post-ictal period
What is the 1st and 2nd line treatment for generalised seizures?
1st line: sodium valproate
2nd line: lamotrigine or carbamazepine
What are the characteristics of absence seizures?
typically occur in children
patient becomes blank, stares into space and then abruptly returns to normal
last 10-20 seconds
WHat are the characteristic features of myoclonic seizures?
sudden brief muscle contractions like a sudden jump
patient normally remains awake during the episode
occur in various forms of epilepsy but typically happen in children as part of juvenile myoclonic epilepsy
What are the characteristic features of focal seizures?
originate in temporal lobes
affect hearing, speech, memory and emotions
present with hallucinations, memory flashbacks, deja vu, doing strange things on autopilot
What are the features of a frontal focal seizure?
Jacksonian march + Todd’s palsy
What are the features of a temporal focal seizure?
aura, dysphagia, post-ictal period
what are the features of an occipital seizure?
vision changes
What are the 1st and 2nd line treatments for focal seizures?
1st: carbamazepine or lamotrigine
2nd: sodium valproate or levetiracetam
What is the difference between simple and complex focal seizures?
simple: no LOC, patient awake + aware, uncontrollable muscle jerking confined to one part of body
complex: LOC, patient unaware, post-ictal period
What are the causes of seizures? (VITAMINDE)
Vascular
Infection
Trauma
Autoimmune e.g. SLE
Metabolic e,g. Hypocalcaemia
Idiopathic e.g. epilepsy
Neoplasms
Dementia + Drugs (cocaine)
Eclampsia
What are functional/dissociative seizures?
paroxysmal event in which changes in behaviour sensation and cognitive function caused by mental processes triggered by internal or external aversive stimuli
What are the characteristics of functional/dissociative seizures?
situational
duration 1-20 mins
dramatic motor phenomena/prolonged atonia
eyes closed
ictal crying and speaking
suprisingly rapid or slow post-ictal recovery
history of psychiatric illlness, other somatoform disorders
What is anorexia nervosa?
when a person feels they are overweight despite evidence of normal or low body weight
involves obsessive restriction of calorie intake with the intention of losing weight often combined with excessive exercising and diet pills or laxatives to restrict absorption of food
What are the 3 main ICD-10 criteria for anorexia nervosa?
Deliberately keeping weight <85% of expected
Morbid fear of fatness (intensive overvalued idea)
Endocrine effects (menstruation stops, delayed puberty, loss of sexual interest/potency)
What are some of the symptoms/signs of anorexia nervosa? complications?
excessive weight loss
amenorrhoea
lanugo hair (fine, soft hair covering the body)
hypokalaemia
hypotension
hypothermia
changes in mood, anxiety and depression
solitude
cardiac complications include arrhythmia, cardiac atrophy and sudden cardiac death
What is bulimia nervosa?
binge eating disorder normally associated with normal or fluctuating weight as people with the condition binge eat and then purge by inducing vomiting or taking laxatives to prevent calorie absorption
What are some signs/symptoms of bulimia nervosa?
alkalosis (due to vomiting HCl from the stomach)
hypokalaemia
erosion of teeth
swollen salivary glands
mouth ulcers
gastro-oesophageal reflux and irritation
Russell’s sign - calluses on the knuckles where they have been scraped across the teeth
What is Type I diabetes?
An insulin deficiency disease characterised by loss of beta cells due to autoimmune destruction.
What are the risk factors for T1 Diabetes?
- HLA DR3 and DR4 and islet cell antibodies
- Other autoimmune diseases
- Environmental infections (e.g. viruses)
What is the cause of Type I diabetes?
Beta cells express HLA (human leukocyte antigen) which activates a chronic cell mediated immune process leading to chronic ‘insulitis’ and consequently insulin insufficiency
What is the typical presentation/symptoms of Type I DM?
Young lean pt
- polydipsia
- nocturia/polyuria
- glycosuria
- polyphagia (excessive eating) + weight loss
- excessive tiredness
What is the treatment for T1DM?
Basal Bolus Insulin
- basal = longer acting to maintain stable insulin levels throughout day
- bolus = faster acting, 30 mins preprandial to give “insulin spike”
What is diabetic ketoacidosis?
Result of too much gluconeogenesis so that glucose is converted to ketone bodies which are acidic. Caused by poorly managed T1 DM or from infection/illness
What are the signs of diabetic ketoacidosis?
T1DM symptoms +…
- Kussmaul breathing (deep laboured breaths to compensate for increased CO2)
- Pear drop breath (breath smells fruity due to ketones)
- Reduced tissue turgor, hypotension + tachcardia
What are the diagnostic blood concentrations of ketones, glucose and acid in DKA?
Ketones >3mmol/l
Random plasma glucoe >11.1mmol/l
pH<7.3 or <15mmol HCO3-
What is the treatment for DKA?
- in an emergency ABCDE
- 1st line always fluid (dehydration is most likely cause of death)
- then insulin (+ glucose and postassium)
What are the potential complications of DKA?
- cerebral oedema
- adult respiratory distress syndrome
- thromboembolism
- aspiration pneumonia (drowsy/comatose patients)
- death
Why can insulin treatment for DKA cause hypokalaemia and why is this dangerous?
insulin decreases potassium levels in the blood by redistributing K+ into the cells via increased Na/K pump activity causing low serum K+ levels –> hypokalaemia
low levels of K+ can cause arrhythmia, weakness (as the heart and muscles can struggle to contract)
What is turner’s syndrome?
when a female has a single X chromosome, making them 45 XO
What are the main features seen in Turner’s syndrome?
short stature
webbed neck
high arching palate
downward sloping eyes with ptosis
broad chest with widely spaced nipples
cubitus valgus
underdeveloped ovaries with reduced function
late or incomplete puberty
most women are infertile
What are some conditions associated with Turner’s syndrome
Recurrent otitis media
Recurrent urinary tract infections
Coarctation of the aorta
Bicuspid aortic valve
Hypothyroidism
Hypertension
Obesity
Diabetes
Osteoporosis
Various specific learning disabilities
What is the management for Turner’s syndrome?
growth hormone therapy (to prevent short stature)
oestrogen and progesterone replacement
fertility treatment
management of secondary conditions
