Background Flashcards
1
Q
Infective ddx sore throat
A
Life threatening (ACTED)
- Abscess
- > usually polymicrobial (Group A strep, s. aureus)
- Candidiasis
- > indicative of immunosuppression
- Thrombophlebitis jugular
- > complication of pharyngitis
- > associated with septic PE
- Epiglottis
- > usually h. influenza in unvaccinated child
- Diphtheria
- > in unvaccinated child
Non life threatening (SIPS AHCE)
- sexually transmitted (rare/abuse/sexually active)
- > gonorrhoea
- > HIV
- influenza and parainfluenza viruses (common)
- pyogenes (common)
- strep species (Group C/G)
- > presents like GAS
- adenovirus (pharyngoconjunctival fever)
- herpetic stomatitis
- coxsachie A virus (hand, foot and mouth/herpangina)
- EBV (infectious mononucleosis)
2
Q
Complications strep pharyngitis
A
GRASP FATSO
- Glomerulonephritis
- > immune complex disease
- > complement activation/inflammation
- > light microscopy = proliferative glomerulonephritis
- > IF = granular IgG and C3 deposition (starry sky)
- > electron microscopy = sub epithelial humps
- > clinically = asymptomatic to nephritic syndrome
- Rheumatic fever
- > latent period of approx 3 weeks
- Arthritis
- > less responsive to NSAIDs than polyarthritis
- > less association with carditis than polyarthritis
- Scarlet fever
- > scarlatiniform rash/strawberry tongue/circumoral pallor
- > delayed hypersensitivity to strep exotoxin
- PANDAS
- > paediatric autoimmune neuropsychiatric disorder associated with group A strep
- > controversial existence/autoimmune basis
- > temporal association with tic disorder/OCD
- Fasciitis
- > usually with predisposing trauma
- > due to haematogenous spread
- > spreads along fascia plane (poor blood supply)
- > abrupt pain/erythema/bullae/systemically unwell
- Abscess
- > usually polymicrobial, including GAS
- Toxic shock syndrome
- > rare complication of shock with multi-organ failure
- > due to inflam cytokines and increased cap permeability
- Sinusitis
- > common complication
- Otitis media
- common complication
3
Q
HFM/Herpangina background
A
Epidemiology
- both under school age
- can occur in endemics
Aetiology
- virology
- > multiple serotypes of enterovirus species
- > most common enterovirus species is enterovirus A
- > most common group is coxsackie A and enterovirus
Pathophys
- transmission
- > oral ingestion
- > predominately faecal or oral secretions
- > some serotypes from vesicle or respiratory secretions
- > contaminated food, water and fomites
- > shed in stool for several months
- > shed from oropharynx for weeks
4
Q
Overview bloodspot screening diseases
A
Harry Potter MAGIC
hypothyroidism (primary congenital)
- epidemiology
- > 40 births/yr in NSW
- aetiology
- > dysgenesis (absence/abnormal thyroid gland)
- pathophys
- > growth retardation
- > intellectual disability
- management
- > daily thyroxine
phenylketonuria (PKU)
- epidemiology
- > 10 births/yr in NSW
- aetiology
- > recessively inherited
- > deficiency in phenylalanine hydroxylase
- pathophys
- > cannot break down amino acid phenylalanine
- > severe intellectual disability
- management
- > low protein diet
medium chain acylCoa dehydrogenase deficiency
- epidemiology
- > 6 births/yr in NSW
- aetiology
- > inability to break down fat
- pathophys
- > coma and liver failure when seriously ill or fasted
- > results in intellectual disability or death
- management
- > avoid fasting
- > IV glucose when unwell
adrenal hyperplasia (congenital)
- epidemiology
- > 6 births/yr in NSW
- aetiology
- > genetic defect
- > deficient in enzyme involved in cortisol biosynthesis
- pathophys
- > low cortisol
- > increased ACTH
- > adrenal gland hyperplasia
- > high androgens and mineralocorticoids
- > disordered regulation of metabolism, salt, response to infection, sex characteristics
- management
- > hormone replacement
- > salt supplementation
galactocaemia
- epidemiology
- > 3 births/yr in NSW
- aetiology
- > deficiency in Gal-1-PUT
- pathophys
- > build up in galactose in blood
- > liver failure and sepsis (potentially lethal)
- > cirrhosis, renal tubular acidosis, cataracts, ID
- management
- > low galactose diet
inborn errors of metabolism (other rare)
-collectively account for approximately 20 births/year in NSW
cystic fibrosis
5
Q
Neonatal sepsis background
A
Epidemiology
- incidence increases with decreasing GA
- Risk factors
- > maternal GBS infection
- > chorioamnionitis
- > intrapartum maternal temp >38
- > premature
- > membrane rupture >18hrs
- > metabolic disturbance (reduces immune function)
Aetiology
- > GBS
- > E. coli
- > S. aureus (late onset sepsis)
- > coagulase negative staph (premature infants)
- > listeria monocytogenes (rare)
- > herpes
Pathogenesis
- vertical transmission (early onset)
- > maternal genital tract
- > contaminated amniotic fluid
- horizontal transmission (late onset)
- > contact with care provider and environment
- > forceps and electrodes
- > disruption of skin/mucosa (eg. canula)
6
Q
Complications of prematurity
A
Mortality and morbidity rates increase with decreasing GA and birth weight
Short-Term =GRINCHES
- glucose
- respiratory
- > RDS
- > apnea of prematurity
- intraventricular haemorrhage
- NEC
- cardiovascular
- > PDA
- > BP
- hypothermia
- eyes (retinopathy of prematurity)
- sepsis
Medium-Term (infancy/early childhood) = BANGERS
- bronchopulmonary dysplasia
- abuse
- neurodevelopmental
- > developmental delay
- > cognitive and social impairment
- > psychiatric illness
- > cerebral palsy
- growth impairment
- enteritis
- respiratory infections
- SIDS
Long-term = KIILO
- kidney disease
- insulin resistance
- IHD
- lung disease (chronic of prematurity)
- obesity
7
Q
RDS background
A
Epidemiology
- over 90% of incidences RDS occur in extreme pre-term
- still significant risk for late pre-term
Aetiology
- Immature lungs
- Low quantity/quality surfactant
Pathophys
- Low quantity/quality surfactant
- > atelectasis
- > decreased compliance/ventilation
- Pulmonary oedema and inflammation due to
- > airway damage due to high pressures
- > low eNAC expression = reduces alveolar fluid clearance
- Pulmonary oedema
- > worsens compliance/ventilation
- Inflammation
- > inactivates surfactant
- Shunting
- > atelectasis/vasoconstriction = high pulmonary pressures
- > right to left shunting across FO/DA
- Hypoxaemia
- > due to poor ventilation/shunting
8
Q
DDx constipation
A
Functional is most common
- > ADHD
- > ASD
Medical
- > coeliac
- > hypothyroid
- > diabetes
- > spinal cord pathology
- > hypercalcaemia
- > excessive cow milk
- Surgical
- > hirschprungs
- > meconium ileus
- > ano-rectal anomaly
9
Q
Bronchiolitis background
A
Epidemiology
- 1 in 30 under
- only occurs in 0-1yr old
Aetiology
- RSV (majority)
- Rhino
- Influenza
- Coronavirus
Pathophys
- Begins as URTI
- > spreads to lower respiratory tract over 1-3 days
- Infection of small airway
- > inflammation
- > oedema
- > mucus secretion
- Outcome
- > obstruction
- > hyperinflation
- > wheezing
- > atelectasis
10
Q
DDx wheezing child
A
Bronchiolitis (if <1yr old) Viral pneumonitis (if >1yr old) Asthma (if >1 yr old) Viral induced wheeze (if <6yrs old) Foreign body aspiration Mediastinal mass CCHD Pneumothorax Pneumonia Anxiety
11
Q
1-12 months developmental milestones
A
6-8 weeks GM: supports head FM: tracks with eyes past midline LH: orients eyes to sounds, coos S: smiles
6 months
GM: sit with support, rolling
FM: transfers, hand to mouth, grasping
LH: head to sound, responds to name, different sounds on need
S: interested in people, recognises familiar faces
9 months
GM: crawls, stands with support, pulls to stand
FM: pincer grip
LH: understands no, babbling
S: stranger anxiety, favourite toy, peek a boo
12 months
GM: walks with support, cruises
FM: points, bangs objects together, should not prefer one hand
LH: mumma, dadda
S: waves, preference for caregiver, using objects
12
Q
18 months - 5 years developmental milestones
A
18 months GM: runs, throws FM: scribbles vertically, handedness LH: six words, can point to some body parts S: uses spoon and cup, points to items
2 years
GM: stairs, kicks ball
FM: scribbles horizontally
LH: two word sentence, follow simple command
S: helps in dressing, parallel play, interest in children
3 years
GM: jumps, catches ball
FM: draws circle, use scissors
LH: 3 word sentences, name, age and sex, some colours
S: dresses with supervision, interactive play, makes friends
4 years GM: hopping FM: draws square LH: 4 word sentences, asks why and how S: imaginative play, toilet trained, dresses self
5 years GM: skips FM: draws triangle LH: 5 word sentence, fluent speech, tells stories S: understands rules, sense of humour
13
Q
DDx stridor
A
Supraglottic
- Epiglotitis
- Foreign body
- Tonsilar enlargement
- Retropharyngeal abscess
Glottic
- Anaphylaxis
- Croup
- Laryngospasm
- Diptheria
Infraglottic
- Bacterial tracheitis
- Tracheomalacia
- Foreign body
- Vascular rings
- Tumour
14
Q
Croup background
A
Epidemiology
-6 months to 6 years old
Aetiology
- RSV most common
- Other
- > influenza
- > parainfluenza
- > coronavirus
Pathophys
- Laryngotracheobronchitis
- > upper airway inflammation
- > obstruction
15
Q
Whooping cough background
A
Epidemiology
- Highest incidence <6 months
- > decreases with age
Aetiology
- Organism
- > bordetella pertussis
- > occasionally bordetella parapertussis
- Transmission
- > aerosol droplets
- > highly infectious
- > 80% household contacts develop clinical illness
- > infectious just before and for 3 weeks post cough
- Vaccination
- > illness still occurs but generally less severe
Pathophys
- Catarrhal stage
- > 1-2 weeks
- Paroxysmal stage
- > approx 6 weeks
- Convalescent stage
- > 2-3 weeks
16
Q
Gastroenteritis background
A
Epidemiology
-occurs in almost all children <5years
Aetiology
- Viral (over 75%)
- > rotavirus most common
- > astrovirus
- > adenovirus
- > norovirus
Pathophys
- Transmission
- > faecal-oral
- > rotavirus may spread by respiratory droplets
17
Q
Gastroenteritis DDx
A
Infective
- Viral
- Bacterial
- > e coli
- > salmonella
- > campylobacter
- > shigella
- > vibrio cholera
- > staph aureus
- Protozoal
- > giardia
- > entamoeba histolytica
Antibiotic
- Adverse effect
- Pseudomembranous colitis
- > c difficile
Intussecpition
Appendicitis
Coeliac
Cystic fibrosis
Inflammatory
- Crohns
- UC
UTI
Sepsis
Hypoglycaemic ketosis
18
Q
Intussusception background
A
Epidemiology
-75% of incidence before 12 months
Aetiology
- Idiopathic
- > previous viral infection
- > hyperplasia of peyers patches/lymphoid tissue
- Pathological
- > tumours
- > polyps
- > meckels
- > HSP
Pathophys
- Telescoping
- > lead point moves into distal bowel lumen
- Regions
- > ileocolic most common
- > ileoileo
- > colocolonic
- Outcome
- > mesentery dragged in = venous congestion
- > ischaemia/necrosis/perforation
- > obstruction
19
Q
DDx seizure
A
Benign
- Daydreaming
- Syncope
- Breath holding spell
- Reflex anoxic seizures
- Rigors
Neuro
- Migraine
- Dystonia
- Fasciculations
Psych
- Pseudoseizure
- Panic attack
- Tics
- Muchausen
20
Q
Febrile seizure background
A
Epidemiology
- approx 5-10% children
- peak incidence 6 months to 6 years
- epilepsy
- > develops in 1% if no risk factors (population risk)
- > up to 10% if risk factors
- recurrence
- > 30% of children
- > almost always occur within 2 years
Aetiology
- Viral infections most common
- Bacteraemia rare
Pathophys
- Simple
- > generalised tonic clonic
- > no focal features
- > less than 10 mins
- > complete recovery within 1 hr
- > no recurrence within 24hrs/same febrile illness
- Complex
- > focal onset/features
- > prolonged 10-15mins
- > complete recovery within 1 hr
- > recurrence within 24hrs/same febrile illness
21
Q
Afebrile seizure background
A
Epidemiology
- approx 5% of children <5 years have afebrile seizure
- > 30% experience recurrence
- > approx 5% develop epilepsy
Aetiology
- Genetic (epilepsy syndromes)
- > benign rolandic
- > drevet syndrome
- > juvenile myoclonic
- > lennox gaustraux
- > childhood absence
- Structural/metabolic
- > virtually any insult
Pathophys
- Focal
- > with impaired/intact awareness + specific semiology
- > motor (automatisms/jacksonian march/vocalisation)
- > sensory (vertigo/paraesthesia/any of five senses)
- > autonomic (epigastric rising/piloerection/sweating/pupil)
- > cognitive/emotive (dejavu/hallucinations/anxiety)
- Generalised
- > absence or motor
- > tonic clonic
- > tonic/clonic
- > myoclonic
- > atonic
- Epilepsy
- > 2 unprovoked within 24hrs
- > 1 unprovoked + similar risk of recurrence in next 10 years
22
Q
Otitis media background
A
Epidemiology
- over 80% incidence before 2 years old
- risk factors
- > daycare
- > older siblings
- > passive smoking
- > no breastfeeding
- > bottle feeding supine
- > dummy use
Aetiology
- Mostly viral
- Bacterial
- > strep pneumoniae
- > haemophilus
- > moraxella
Pathophys
- Often post viral infection
- > loss of eustachian tube mucociliary action
- > unable to clear nasopharyngeal flora from middle ear
- Middle ear effusion
- > supportive media for bacterial growth
- > becomes suppurative
- Increased middle ear pressure
- > pain
- > perforation of tympanic membrane
- Complications
- > mastoiditis
- > otitis media with effusion
- > intracranial spread
- > atelectasis of TM
- > cholesteatoma
23
Q
Kawasaki background
A
Epidemiology
- almost exclusively children
- > 6 months to 6 years
- approx 1/1,000
Aetiology
- Infection in genetically susceptible host
- > causative virus/bacteria unknown
- > genetic variants in Ig and T cell receptors
- Systemic vasculitis
- Coronary artery disease
- > occurs in 1/4 untreated patients
- > leads to aneurysm/MI/sudden death
Pathophys
- Acute febrile stage
- > 1-2 weeks
- > typical symptoms
- Subacute stage
- > 2-4 weeks
- > symptoms resolving
- > desquamation begins
- > coronary artery ectasia/aneurysm may develop
- Convalescent stage
- > 4-8 weeks
- > all inflammatory signs/markers normal
- > coronary disease may persist
- Chronic
- > variable
- > coronary disease may resolve
- > complications may occur (MI/rupture/thrombosis)
24
Q
HSP background
A
Epidemiology
- most common vasculitis in kids
- most common under age school age
- male predominance
- rarely occurs in summer
Aetiology
- autoimmune
- often preceded by URTI
Pathophys
- IgA immune complexes disease
- vessels wall deposition
- > IgA
- > C3
- > fibrin
- > monocyte and neutrophils predominate
- purpuric skin
- > involvement of small vessels of dermis
- kidney
- > endothelial and mesangial deposition
25
Q
DDx Kawasaki
A
Sepsis/STSS GAS ->scarlet fever ->rheumatic fever EBV Adenovirus Measles Systemic juvenile arthritis SJS Drug reaction
26
Q
Ddx purpura + fever
A
Infection
- Viral
- > enterovirus
- > influenza
- Bacterial
- > meningococcal
- > strep pneumonia
- > haemophilus influenza
Autoimmune
- HSP
- ITP
Malignancy
-Leukaemia
27
Q
Meningitis background
A
Epidemiology
-decreasing incidence of bacterial with vaccines
Aetiology
- Bacterial
- > strep pneumoniae
- > neisseria meningiditis
- > haemophilus influenzae
- > GBS (neonates)
- > e coli (neonates)
- Viral
- > enterovirus
- > HSV
- > mumps
- > west nile
- > HIV
Pathophys
- Meningitis
- > inflammation of meninges
- > porous BBB and cerebral oedema
- Encephalitis
- > inflammation of parenchyma
- > HSV infection
28
Q
Sepsis organisms
A
Neonate
- E coli
- GBS
- HSV
- Listeria (rare)
Children
- Neisseria
- Strep pneumonia
- GAS
- Staph aureus
29
Q
UTI background
A
Epidemiology
- By 8yrs
- > 8% of girls
- > 2% of boys
- Risk factors
- > uncircumcised
- > no breastfeeding
- > bladder dysfunction
Aetiology
- Simple
- > e coli
- > staph saprophyticus
- > staph aureus
- > proteus
- Complicated
- > pseudomonas
- > klebsiella
- > staph epidermidits
Pathophys
- Colonisation of urethra
- Cystitis
- > ascending infection
- > urine pooling (neurogenic/catheter/constipation/obstruction)
- Pyelonephritis
- > vesicoureteric reflux
30
Q
Jaundice background
A
Epidemiology
- Term babies
- > 60%
- Premature babies
- > 80%
- Risk factors
- > male
- > asian
- > maternal diabetes
- > premature
- > low birth weight
- > decreased caloric intake/weight loss
- > breast feeding
Aetiology
- Unconjugated
- > physiological (2-3 weeks)
- > breast milk (prolonged)
- > sepsis
- > extravasation (polycythaemia/cephalohaematoma)
- > ABO/Rh incompability
- > haemolytic anaemia (G6PD/thalassaemia)
- > hypothyroid
- > GIT obstruction (pyloric stenosis/hirschprungs/ileus)
- > conjugation (crigler najjar/gilberts)
- Conjugated
- > biliary atresia
- > hepatitis (infection/idiopathic/alpha 1 anti-trypsin)
- > metabolic (galactosaemia/fructose intolerance)
- > TPN
Pathophys
- Physiological
- > more RBCs
- > shorter RBC life span (approx 80 days)
- > UGT1A1 activity very low until about 2 weeks
- > sterile gut
- Acute bilirubin encephalopathy
- > high levels of unbound/unconjugated bilirubin
- > cross BBB and bind to basal ganglia/sub cortical nuclei
- > mitochondrial injury and neurological impairement
- Chronic bilirubin encephalopathy
- > kernicterus is pathological hallmark
- > yellowing of basal ganglia/hippocampus/cerebellum
31
Q
Type 1 diabetes background
A
Epidemiology
- up to 10% of diabetes cases
- majority of diabetes in children
Aetiology
- Genetic
- > HLA-DR/DQ polymorphism
- Environmental
- > enterovirus infection
- > low vitamin D
Pathophys
- Pancreatic beta islet cell destruction
- > immune mediated
- > no role for insulin resistance
- Microvascular
- > retinopathy
- > nephropathy
- > neuropathy
- Macrovascular
- > PVD
- > CAH
- > stroke
32
Q
Failure to thrive background
A
Epidemiology
-by definition 5% of population
Aetiology
- Poor nutrition
- > limited access (poverty)
- > breast feeding difficulty
- > poor nutritional knowledge (vegan/low fat)
- > poor parental feeding skills
- Psychosocial
- > substance use
- > carer mental health
- > attachment/neglect/abuse
- Poor intake
- > poor appetite (illness)
- > poor feeding (CLP/CP/GORD)
- Increased demand
- > UTI
- > CHD
- > diabetes
- > hyperthyroidism
- > IEM
- Increased loss
- > coeliac
- > persistant vomiting/diarrhoea
Pathophys
- Definition
- > weight/BMI <5th centile
- > crossing two centile lines
- Waterlow criteria (weight for length)
- > mild >80%
- > moderate = 70-80%
- > severe <70%
33
Q
Crohn’s background
A
Epidemiology
- Prevalence
- > less than 0.5%
- Peak onset
- > teenage to middle age
- > retirement age
Aetiology
- Genes
- > most of genetic loci undetermined
- Environmental
- > smoking
- > OCP
- > high sugar diet
- > measles
Pathophys
- Bowel wall inflammation
- > full thickness
- > caseating granulomas
- > involvement of mesentery
- Surface
- > oedema + hyperaemia
- > cobblestoning (longitudinal + transverse ulcers)
- Distribution
- > mouth to anus
- > skip lesions
- Complications
- > bowel obstructions + perforation
- > strictures
- > fistulas + sinus tracts + abscesses
- > malabsorption + dehydration + vitamin deficiency
- > steatorrhoea + gallstones + fat soluble vitamin deficient
- > steatorrhoea + calcium binding + oxolate stones
34
Q
Extra-intestinal manifestations IBD
A
Eye-BD Has Peripheral Manifestations
- Eyes
- > uveitis
- > episcleritis
- Blood
- > autoimmune haemolytic anaemia
- Dermatology
- > pyoderma gangrenosa
- > erythema nodosum
- Hepatic
- > autoimmune hepatitis
- > primary sclerosing cholangitis
- Pulmonary
- > interstitial disease
- Musculoskeletal
- > spondyloarthropathy
- > osteoporosis
- > osteonecrosis
35
Q
Ulcerative colitis background
A
Epidemiology
- Prevalence
- > less than 0.1%
- Peak onset
- > teenage to middle age
- > retirement age
Aetiology
- Genes
- > HLAB27
- Environmental
- > not smoking
Pathophys
- Bowel wall inflammation
- > usually involves rectum (proctitis when limited)
- > backwash ileitis
- > limited to mucosa
- Mucosa
- > polyps + pseudopolyps
- > crypt abscesses
- Severity
- > mild <4 stools +- blood
- > moderate >4 stools + limited toxicity
- > severe >6 stools + toxicity (fever/anaemia/ESR)
36
Q
Congenital heart disease background
A
Epidemiology
- most common congenital defect
- less than 1% of all live births
- risk factors
- > prematurity
- > family hx
- > genetic disorder
- > maternal diabetes/obesity
- > maternal exposure (drugs/alcohol/smoking/phenytoin)
- > in utero infection (TORCH)
Aetiology (5 T’s and heart failure)
- Transposition of the great arteries
- > aorta from RV/pulmonary trunk from LV
- > two parallel circuits
- TOF
- > over-riding aorta
- > VSD
- > RV hypertrophy
- > pulmonary trunk stenosis
- Total anomalous venous return
- > pulmonary veins don’t drain into RA
- > connect to vena cava/coronary sinus/portal vein
- Truncus arteriosus
- > single outflow vessel
- Tricuspid atresia
- > no RA/RV communication
- > right to left shunt through PFO
- Heart failure (CHIC)
- > coarctation of the aorta
- > hypoplastic left heart syndrome
- > interrupted aortic arch
- > critical aortic valve stenosis
Pathophys
- Left to right shunt
- > VSD/ASD/PDA
- > increased pulmonary flow and acyanotic
- Right to left shunt
- > decreased pulmonary flow and cyanotic
- > terrible T’s
37
Q
Newborn heart murmur ddx
A
Under 6 hrs
- Valve regurgitation
- > tricuspid
- > mitral
- Valve stenosis
- > pulmonary
- > aortic
After 6 hrs
- PDA
- > almost all close by 48hrs
- VSD
- > as pulmonary vascular resistance decreases
- > not usually present in first few hours of life
- Coarctation
- > decreases as collaterals develop
- Any congenital heart defect
Over 1 year
- Innocent Still
- > left lower sternal border + apex
- > systolic
- > resolves by adolescence
- Cervical venous hum
- > left or right upper sternal border
- > loudest while seated with head extended
- ASD
- > left upper sternal border holosystolic
- MR
- > rheumatic fever
- > kawasaki
- > myocarditis/endocarditis
- Bicuspid aortic valve
- > ejection click + AS at apex
38
Q
ASD background
A
Prevalence
- 1% population
- 3 to 4 x male predominance
Risk factors
- male sex
- sibling with ASD
- poor perinatal or maternal health
- maternal medications (valproate)
- advanced parental age
- genetic disorders (tuberous sclerosis)
Pathogenesis
- heritability 30-90%
- epigenetic theory
- mostly polygenic
- > no gene accounts for >1% of cases
- predominately due to abnormal neural connectivity
39
Q
ADHD background
A
Epidemiology
- approx 5% adults
- far more common in boys
Aetiology
- Genetics
- > heritability 70%
- > many genes related to dopamine receptor
- Environmental
- > childhood adversity
- > low birth weight
- > antenatal and perinatal complications
Pathophys
- Neurobiology
- > decreased frontal cortex volume
- > down regulated dopamine and norad
- Comorbid
- > anxiety
- > depression and bipolar
- > substance use
- > ASD
40
Q
ID background
A
Epidemiology
- 1% of children have cognitive impairment
- 10% of children have specific learning difficulty
Aetiology
- Genetic
- > fragile x
- > tuberous sclerosis
- > trisomy
- Neurological
- > ADHD
- > ASD
- CNS injury
- > encephalitis/meningitis
- > tumour
- > TBI
- > absence epilepsy
- Intra-uterine
- > fetal alcohol spectrum disorder
- > maternal exposures
Pathophys
- Cognitive impairment
- > IQ <70
- Specific learning difficulty
- > normal IQ
- > dyslexia
- > dyscalculia
- > specific language impairment
41
Q
CP background
A
Epidemiology
- Incidence per 1,000
- > 2 for singletons
- > 12 for twins
- > 44 for triplets
Aetiology
- Antenatal (most common)
- > prematurity
- > multiple pregnancy
- > TORCH infections
- > iodine deficiency
- > teratogen exposure
- > genetic disorder
- > inborn error metabolism
- Perinatal
- > birth asphyxia
- > birth trauma
- > abruption
- > uterine rupture
- Post natal
- > jaundice
- > sepsis
- > meningitis
- > RDS
- > ICH
- > shaken baby
- > seizures
Pathophys
- Brain insult
- > selective vulnerability during end of second trimester
- > periventricular white mater damage
- > classically non progressive
- Spastic
- > damage to vestivular or retinacular nuclei/tracts
- > damage to primary motor or corticospinal tract
- Dyskinetic
- > damage to basal ganglia
- Ataxia
- > damage to cerebellar nuclei/tracts
42
Q
CF background
A
Epidemiology
- 1 in 3,000
- more common in europeans
Aetiology
- CFTR mutation
- > delta 508 mutation most common
- > autosomal recessive
Pathophys
- CFTR protein
- > pumps Cl into lung/GI/pancreatic secretions
- > draws Cl from sweat
- Bowel
- > meconium ileus
- > obstruction
- Pancreas
- > obstruction and autodigestion
- > acute/chronic pancreatitis
- > insulin dependent diabetes
- Lungs
- > impaired mucociliary apparatus function
- > recurrent pneumonia/bronchitis
- > bronchiectasis
- Infertility
- > males lack vas deferens
- Allergic bronchopulmonary aspergillosus
- > hypersensitivity reaction
43
Q
Coeliac background
A
Epidemiology
-approx 1%
Aetiology
- MHC molecules
- > HLA-DQ2 and DQ8
Pathophys
- Autoimmune
- > loss of immune tolerance to gluten peptides
- > wheat/rhye/barley
- MHC molecules
- > present gluten peptide to T cells
- > villous atrophy + crypt hyperplasia
44
Q
IM background
A
Epidemiology
- EBV
- > more than 90% of adults are seropositive
- > rarely clinical disease in children
- peak risk in young adult range
- much more common in caucasians
Aetiology
- Infectious mononucleosis
- > 90% cases EBV
- remainder
- > HHV5
- > HHV6
- > HSV1
Pathophys
- transmission
- > saliva (median = 6 months post infection)
- > possibly sexual
- > possibly breastfeeding
- infection of B cells in oropharynx
- > circulating B cells infect liver, spleen, lymph nodes
- > lytic replication
- incubation period 1-2 months
- humoral response
- > viral antigen related antibodies
- > unrelated antigens (found on horse/sheep RBCs)
- T cell response
- > controls initial lytic infection
- > determines clinical picture
- latency
- > viral genome as extrachromosomal episomes
- > memory B cells
- > immune avoidance in germinal centres
- > low level replication
- neoplasia
- > immortality of B cell lineages
45
Q
Acute rheumatic fever background
A
Epidemiology
- rare in adults
- rare in developed country
- > ATSI
Aetiology
- Autoimmune
- > post GAS pharyngitis
- > molecular mimicry with cross-reactive antibodies
Jones criteria
- Overall
- > evidence of infection
- > two major
- > one major + two minor
- > different criteria for high risk populations
- Evidence of GAS infection
- > rising anti-streptolysin O titre
- > positive rapid GAS carbohydrate antigen test
- > positive throat culture
- Major criteria (JONES)
- > joints (polyarthritis
- > carditis
- > nodules (subcutaneous)
- > erythema marginatum
- > sydnenham chorea
- Minor (TAPE)
- > temperature
- > arthralgia (unless arthritis)
- > prolonged PR (unless carditis)
- > ESR/CRP
46
Q
Background BRUE
A
Epidemiology
-less than 12 months old
Aetiology (ddx)
- Airway
- > foreign body
- > laryngospasm
- Cardiac
- > CHD
- > arrhythmia
- > vascular ring
- Abdominal
- > intussecpition
- > testicular torsion
- > strangulated hernia
- Infection
- > pertussis
- > sepsis
- > pneumonia
- > meningitis
- Metabolic
- > hypoglycaemia
- Toxin ingestion
- Abuse
Pathophys
- Event
- > marked change in breathing/colour/tone/alertness
- > duration <1 minute
- > complete return to baseline
- > unexplained by medical cause
- Cause
- > unknown
- > likely exaggerated airway reflexes
- > usually related to feeding/reflux/secretions
