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
DDx Kawasaki
```
Sepsis/STSS
GAS
->scarlet fever
->rheumatic fever
EBV
Adenovirus
Measles
Systemic juvenile arthritis
SJS
Drug reaction
```
26
Ddx purpura + fever
Infection
- Viral
- >enterovirus
- >influenza
- Bacterial
- >meningococcal
- >strep pneumonia
- >haemophilus influenza
Autoimmune
- HSP
- ITP
Malignancy
-Leukaemia
27
Meningitis background
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
Sepsis organisms
Neonate
- E coli
- GBS
- HSV
- Listeria (rare)
Children
- Neisseria
- Strep pneumonia
- GAS
- Staph aureus
29
UTI background
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
Jaundice background
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
Type 1 diabetes background
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
Failure to thrive background
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
Crohn's background
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
Extra-intestinal manifestations IBD
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
Ulcerative colitis background
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
Congenital heart disease background
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
Newborn heart murmur ddx
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
ASD background
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
ADHD background
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
ID background
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
CP background
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
CF background
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
Coeliac background
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
IM background
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
Acute rheumatic fever background
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
Background BRUE
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
