Paediatrics Flashcards
List the four key developmental milestones and their features
Gross motor
* Sits unsupported
* Walks around furniture
* Walks unaided
Fine motor and vision
* Follows a face
* Reaches for toys
* Grasps with palmar grip
* Picks up small objects
Speech, language, and hearing
* Startles to loud noises
* Coos and babbles
* Turns head to sounds
* Says ‘mama’, ‘dada’, etc
* Understands commands
* Says words
* Talks in sentences
Social, emotional, and behavioural
* Smiles
* Feeds him/herself solid food
* Drinks from a cup
* Helps with tasks like dressing
* Toilet-trained
What should be enquired regarding development in older children?
Concerns or contact with health or education support services
Toilet training
Temperament, behaviour and sleep
Concerns and progress at nursery/school/college
Languages spoken at home
What should be enquired regarding development in adolescence?
STEP
Sexual maturation and growth – Is the intellectual, pubertal and growth stage appropriate for their chronological age?
Thinking – Is the young person using concrete or abstract constructs? Do they have sufficient self-esteem and/or sense of purpose?
Education – What education is the young person attending?
Peers/parents – How connected is the young person to their peers and parents? Who is responsible for the young person’s healthcare decisions?
List the signs of respiratory distress
Nasal flaring
Tracheal tug
Recession (retraction)
See-sawing
Grunting
Difficulty with feeds/speech
List the 4S of innocent murmurs
aSymptomatic
Soft, blowing, murmur
Systolic only
Left Sternal edge
Describe Gower’s sign and what does it indicate?
Duchenne muscular dystrophy
Beyond 3 years, the need to turn prone to rise and subsequently to use their hands to walk up the legs to stand
Define developmental delay
Used only in the 0–5 age group
Slow acquisition of skills but in the correct order.
May be global (affecting two or more skill areas) or specific (affecting only one skill area).
Define developmental disorder
Developmental skills are both delayed and acquired in the incorrect order.d
List the prenatal causes of abnormal development and learning disability
Genetic - Chromosome/DNA disorders
* Down syndrome
* Fragile X syndrome
* Chromosomal microdeletions or duplications
Neurocutaneous syndromes
* Tuberous sclerosis
* Neurofibromatosis
* Sturge–Weber
* Ito syndrome
Structural brain problems
* Cerebral dysgenesis (microcephaly, absent corpus callosum, neuronal migration disorder)
* Hydrocephalus
Stroke
Metabolic
* Hypothyroidism
* Phenylketonuria
Teratogenic - Alcohol or drug abuse
Congenital infection
* Rubella
* Cytomegalovirus
* Toxoplasmosis
* HIV
* Zika
Define learning/intellectual disability
School-aged children with significantly reduced ability to
* Understand new or complex information
* Learn new skills
* Cope independently with everyday life
List the perinatal causes for abnormal development and learning disability
Intraventricular haemorrhage/periventricular leukomalacia
Hypoxic–ischaemic encephalopathy
Metabolic
* Symptomatic hypoglycaemia
* Hyperbilirubinaemia
List the postnatal causes for abnormal development and learning disability
Infection
* Meningitis
* Encephalitis
Anoxia
* Suffocation
* Near drowning
* Seizures
Trauma - Traumatic brain injury
Metabolic
* Hypoglycaemia
* Inborn errors of metabolism
Cerebrovascular - stroke
Nutritional deficiency
* Malnutrition
* Vitamin deficiency
Other
* Chronic illness
* Child maltreatment
* Neglect
List the signs of abnormal motor development
Abnormal gait, balance
Asymmetry of hand use
Involuntary movements
List the causes of abnormal motor development
Cerebral palsy
Spina bifida
Neuropathy
Congenital myopathy
Global developmental delay, may be associated with a syndrome
List the prenatal risk factors for cerebral palsy
Multiple gestations.
Chorioamnionitis.
Maternal respiratory / GU infection
Maternal illnesses
* Thyroid disease
* Iodine deficiency
* TORCH (toxoplasmosis, rubella, cytomegalovirus, herpes simplex) infections
* Factor V Leiden mutations - neonatal emboli from placental thrombosis.
Teratogen exposure (eg. warfarin).
Foetal genetic and metabolic disorders.
Foetal brain malformations.
Placental abruption.
List the perinatal factors for cerebral palsy
Preterm birth
Low birth weight.
Respiratory distress.
Birth asphyxia
Intraventricular haemorrhage.
Hyperbilirubinemia.
Neonatal sepsis
Neonatal encephalopathy.
List the postnatal factors for cerebral palsy
Head injuries prior to 3 years (including child abuse).
Meningitis.
List the four types of cerebral palsy
Spastic
Dyskinetic
* Chorea
* Athetosis
* Dystonia
Ataxic
Mixed
List the motor features in cerebral palsy
Unusual fidgety movements
Abnormalities of movement - asymmetry / paucity
Abnormalities of tone
* Hypotonia
* Spasticity
* Dystonia
Abnormal motor development
* Late head control
* Rolling
* Crawling
* Persistent toe-walking
Feeding difficulties
List the most common delayed motor milestones in children with cerebral palsy
Not sitting by 8 months
Not walking by 18 months
Early hand preference before 1 year
List the three core features of autism spectrum disorders
Persistent impairments in social communication
Persistent impairments in social interaction
Restricted and repetitive patterns of behaviours, interests and activities including sensory sensitivities
List the risk factors in autism spectrum disorders
Chromosomal and genetic anomalies
* Down’s syndrome
* Fragile X syndrome
* Muscular dystrophy
* Neurofibromatosis type 1
* Tuberous sclerosis
Preterm birth
Parental schizophrenia-like psychosis / affective disorder.
Sodium valproate during pregnancy.
Birth complications resulting in CNS malformation or dysfunction eg. cerebral palsy.
Neonatal or epileptic encephalopathy, including infantile spasms.
A learning disability
Neurodevelopmental disorders eg. ADHD
Family history
List the three core criteria for a learning disability diagnosis
Lower intellectual ability (IQ <70).
Significant impairment of social or adaptive functioning.
Onset in childhood.
What does learning difficulty include
Dyslexia (reading)
Dyspraxia (affecting physical coordination)
Dyscalculia (difficulties in learning and comprehending numbers)
Dysgraphia (difficulties with writing skills)
List the International Classification of Diseases 11th Revision (ICD-11) grading for learning disabilities
Mild — IQ 50 ~ 69
Moderate — IQ 35 ~ 49
Severe — IQ 20 ~ 34
Profound — IQ <20
List the risk factors for learning disabilities
Chromosomal and genetic anomalies
* Down’s syndrome
* Turner syndrome
* Williams syndrome
* Rett’s syndrome
* Fragile X syndrome
Non-genetic congenital malformations
* Spina bifida
* Hydrocephalus
* Microcephaly
Prenatal exposures
* Alcohol
* Sodium valproate
* Congenital rubella infection
* Zika virus infection
Birth complications
* Hypoxic brain injury
* Cerebral palsy
Very premature birth (<33 weeks gestation)
Childhood illness
* Meningitis
* Encephalitis
* Measles
* Epilepsy
Childhood brain injury
Childhood neglect and/or lack of stimulation in early life.
Neurodevelopmental disorders
* Autism
* ADHD
Give the diagnostic criteria for ADHD
Persistent pattern of inattention and/or hyperactivity-impulsivity that interferes with functioning or development.
The symptoms should:
* Start before 12 years of age
* Occur in two or more settings
* Present for at least 6 months.
* Interfere/reduce the quality of social, academic or occupational functioning.
* Do not occur exclusively during the course of a psychotic disorder and are not better explained by another mental disorder.
List the signs of inattention in ADHD
Wandering off task
Lacking persistence
Having difficulty sustaining focus
Being disorganised
List the adult and children signs of hyperactivity in ADHD
Children - excessive motor activity when it is not appropriate (such as running around), or by excessive fidgeting, tapping, or talkativeness.
Adult - extreme restlessness or wearing others out with their activity.
List the risk factors for ADHD
Genetics
Environmental factors
* Low birth weight
* Maternal smoking, alcohol during pregnancy
* Adverse maternal mental health
Preterm delivery
Epilepsy
Acquired brain injury
Lead exposure
Iron deficiency
Psychosocial adversity
List the psychiatric or neurodevelopmental comorbidities in ADHD
Oppositional defiant disorder (ODD)
Conduct disorder
Substance use disorder
Mood disorders eg. depression, mania
Autism spectrum disorder
Dyslexia, dyscalculia, dyspraxia
List the first line and alternative medications in ADHD for school-age children and young people
First line: Methylphenidate
Alternatives: Lisdexamfetamine, dexamfetamine, and atomoxetine
Melatonin (insomnia)
List the first line and alternative medications in ADHD for adults with ADHD
First line: Lisdexamfetamine or methylphenidate
Alternatives: Dexamfetamine or atomoxetine
List the monitoring requirement for ADHD treatment
Weight
* Every 3 months in children <10 years
* Every 6 months in >10 years and adults
Height - every 6 months
Blood pressure and heart rate
* Before and after each dose change
* Routinely every 6 months
Give the mechanism of methylphenidate
Norepinephrine and dopamine reuptake inhibitor
List the adverse effects of methylphenidate
Gastrointestinal - abdominal pain, nausea, vomiting, diarrhoea, dyspepsia, dry mouth, anorexia.
Cardiovascular - tachycardia, palpitation, arrhythmias, blood pressure changes.
CNS - insomnia, nervousness, asthenia, depression, irritability, aggression, headache, drowsiness, dizziness, dysphemia, movement disorders.
Dermatological - pruritus and rash
Reduced weight gain, Growth restriction
Cough
Nasopharyngitis
Fever
Arthralgia
Alopecia
List the adverse effects of amfetamine
Metabolic - decreased appetite with moderately reduced weight and growth during prolonged use
Psychiatric - insomnia, anxiety, aggression, agitation, lability, mood swings, and depression.
CNS - dizziness, dyskinesia, tremor, psychomotor hyperactivity, confusion, irritability, and headache
Cardiovascular - hypertension, tachycardia, QTc interval prolongation, cardiomyopathy, and myocardial infarction
Gastrointestinal - diarrhoea, constipation, abdominal cramps, nausea, and vomiting.
Urogenital - sexual dysfunction
Ophthalmological - mydriasis
When should hearing be formally tested in a child?
Any child with
* Delayed speech or language
* Learning difficulties
* Behavioural problems
List the causes of sensorineural hearing loss
Genetics
Antenatal and perinatal:
* Congenital cytomegalovirus
* Prematurity
* Hyperbilirubinemia
Postnatal:
* Meningitis/encephalitis
* Head injury
* Drugs (aminoglycosides and furosemide)
* Neurodegenerative disorders
List the causes of conductive hearing loss
Chronic secretory otitis media
Eustachian tube dysfunction
* Down syndrome
* Cleft palate
* Pierre Robin sequence
* Midfacial hypoplasia
External auditory canal atresia
Perforation of tympanic membrane
List the presentations of visual impairment in children
Anophthalmia
Absent red reflex or white reflex (leukocoria)
Not smiling responsively by 6 weeks post-term
Poor visual responses eg. poor eye contact
Roving eye movements
Nystagmus
Squint (strabismus)
What may be absent red reflex or white reflex (leukocoria) be due to
Cataract
Corneal abnormalities
Retinoblastoma
List two types of strabismus in children
Concomitant (non-paralytic) - due to refractive error in one or both eyes.
Paralytic - paralysis of the orbital muscle nerves (III, IV, VI)
Describe the corneal light reflex test for strabismus
Pen torch held at a distance to produce reflections on both corneas simultaneously
Squint is present if the light reflection does not appear in the same position in the two pupils
Describe the cover test for strabismus
The child is encouraged to look at a toy/light.
If the fixing eye is covered, the squinting eye will move to take up fixation
The test should be performed with near (33 cm) and distant (at least 6 m) objects
List the causes of severe visual impairment in children
Genetic
Cataract
Albinism
Retinal dystrophy
Retinoblastoma
Antenatal and perinatal
Congenital infection
Retinopathy of prematurity
Hypoxic-ischaemic encephalopathy
Cerebral dysgenesis
Optic nerve hypoplasia
Postnatal
Trauma
Infection
Juvenile idiopathic arthritis
List the clinical manifestations in Down syndrome
Typical craniofacial appearance
Round face and flat nasal bridge, short neck
Upslanted palpebral fissures
Epicanthic folds (a fold of skin running across the inner edge of the palpebral fissure)
Brushfield spots in iris (pigmented spots)
Small mouth and protruding tongue
Small ears
Flat occiput and third fontanelle
Other anomalies
Single palmar creases, incurved and short fifth finger, and wide ‘sandal’ gap between first and second toes
Hypotonia
Congenital heart defects (40%)
Duodenal atresia (or other intestinal atresias)
Hirschsprung disease (<1%)
Later medical problems
Delayed motor milestones
Learning difficulties
Short stature (special growth chart for children with Down Syndrome)
Increased susceptibility to infections
Hearing impairment from secretory otitis media (75%)
Visual impairment from cataracts (15%), squints, myopia (50%)
Increased risk of hypothyroidism (15%)
Increased risk of leukaemia and solid tumours (<1%)
Increased risk of coeliac disease
Acquired hip dislocation and atlantoaxial instability
Obstructive sleep apnoea (50% to 75%)
Epilepsy
Early-onset Alzheimer disease
List the three cytogenetic mechanisms in Down syndrome
Meiotic nondisjunction
Robertsonian Translocation (The entire long arms of two different chromosomes become fused to each other, usually 14 and 21)
Mosaicism
List the clinical features of Edwards syndrome (trisomy 18)
Low birthweight
Prominent occiput
Small mouth and chin
Short sternum
Flexed, overlapping fingers
‘Rocker-bottom’ feet
Cardiac and renal malformations
List the clinical features of Patau syndrome (trisomy 13)
Structural defect of brain and scalp
Small eyes (microphthalmia) and other eye defects
Cleft lip and palate
Polydactyly
Cardiac and renal malformations
List the pathognomonic features in Turner syndrome (45, X)
Short stature
Delayed puberty
Neck webbing
High arched palate
Widely spaced nipples with shield chest
Low posterior hairline
Wide carrying angle (cubitus valgus)
Short fourth metacarpal
Low-set / malrotated ears
Peripheral lymphoedema
Madelung deformity
Down-sloping eyes, ptosis, or hooded eyes
Multiple melanocytic naevi
Dystrophic, hyper-convex nails
Scoliosis
List the comorbidities and complications in Turner syndrome (45, X)
Congenital heart defects
* Bicuspid aortic valve
* Aortic coarctation
* Dilated ascending aorta
Hypertension
Renal anomalies
* Horseshoe kidney
* Renal agenesis
* Duplicated collecting ducts
Thyroid disorders
* Hypothyroid
* Autoimmune thyroid disease
Liver disorders
* Fatty liver
* >10% elevation of ALT and/or AST
Hearing loss
List the investigations and findings in Turner syndrome (45, X)
Antenatal ultrasound:
* Oedema of the neck, hands, or feet
* Cystic hygroma
Bone age - Mild delay (2 years less than chronological age)
Serum follicle-stimulating hormone (FSH) anti-Müllerian hormone (AMH)
* Elevated FSH
* Very low / undetectable AMH
Pelvic ultrasound
* Immature uterus and small streak ovarian morphology
* Accelerated oocyte death and ovarian degeneration into fibrous streaks
Skeletal survey
* Wrist deformities
* Scoliosis
* Madelung deformity (prominent distal ulna)
Baseline blood tests to screen for: comorbidities/complications
Thyroid function tests
Liver function tests (Turner hepatitis)
Fasting glucose and HbA1c - diabetes
Serum lipids - hypercholesterolemia
IgA level and tissue transglutaminase - coeliac disease
Vitamin D
List the management options for poor growth in Turner syndrome (45, X).
When is the treatment initiated?
Recombinant human growth hormone (GH)
* From when drop off the normal growth curve until growth velocity is less than 2 cm/year
Oxandrolone (non-aromatizable oral androgen)
* For girls diagnosed very late with only a small time window for treatment
List the adverse effects from recombinant human growth hormone (GH)
Intracranial pressure
Slipped capital femoral epiphysis
Scoliosis
Pancreatitis
List the management options for puberty delay in Turner syndrome (45, X).
When is the treatment initiated?
Oestrogen replacement - transdermal estradiol
* Started when no spontaneous breast development has occurred by the age of 11-12 years and serum FSH is elevated
Cyclic progesterone - Oral micronized progesterone
* The last 10 days of each month to induce menstruation
Give the ovarian hormone replacement therapy approach in Turner syndrome (45, X).
Oral / transdermal oestrogen therapy
Combined with continuous / cyclic progestogen therapy
* Prevent endometrial hyperplasia and cancer
Why is oestrogen therapy initiated in Turner syndrome (45, X)?
reduce
* osteoporosis
* cardiovascular disease
* urogenital atrophy
improve quality of life
List the clinical features in Klinefelter syndrome (47, XXY)
Infertility
Hypogonadism, small testes
Gynaecomastia in adolescence
Tall stature
Pubertal development may appear normal
Intelligence usually normal, but some have educational and psychological problems
Give the chromosomal deletion in Cri du Chat syndrome and list its clinical features
5p microdeletion
High pitched cry in infancy
Hypotonia
Microcephaly
Intellectual disability
Give the chromosomal deletion in DiGeorge syndrome and list its clinical features
22q11.2 microdeletion
Abnormal facies
Cleft palate (posterior, may be submucosal)
Cardiac anomalies
Hypoplasia of thymus gland
Immune dysfunction
Intellectual disability
Autism/ADHD
Give the chromosomal deletion in Williams syndrome and list its clinical features
7q11 microdeletion including the elastin gene
Characteristic facies
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis
Mild-to-moderate learning difficulties
Short stature
Give the chromosomal abnormality in Charcot–Marie–Tooth disease type 1A
Duplication of the PMP22 gene at 17p12
List four trinucleotide repeat disorders
Fragile X syndrome
Myotonic dystrophy
Huntington disease
Friedreich ataxia
List 11 autosomal dominant disorders
Achondroplasia
Familial hypercholesterolaemia (mostly)
Huntington disease
Marfan syndrome
Myotonic dystrophy
Neurofibromatosis
Tuberous sclerosis
Noonan syndrome
Osteogenesis imperfecta
Otosclerosis
Polyposis coli
List 12 autosomal recessive disorders
Congenital adrenal hyperplasia
Cystic fibrosis
Friedreich ataxia
Galactosaemia
Glycogen storage diseases
Hurler syndrome
Oculocutaneous albinism
Phenylketonuria
Sickle cell disease
Tay–Sachs disease
Thalassaemia
Werdnig–Hoffmann disease (SMA1)
List 6 X-linked recessive disorders
Colour blindness (red–green)
Duchenne and Becker muscular dystrophies
Fragile X syndrome
Glucose-6-phosphate dehydrogenase deficiency
Haemophilia A and B
Hunter syndrome (mucopolysaccharidosis II)
Give the genetic abnormality in Fragile X syndrome
Trinucleotide repeat expansion in the gene FMR1 (Fragile X messenger ribonucleoprotein 1)
List the clinical features in Fragile X syndrome
Characteristic facies
* Long face
* Large everted ears
* Prominent mandible
* Broad forehead
Macrocephaly
Moderate–severe learning difficulty (IQ 20–80, mean 50)
Autism, ADHD
Postpubertal macroorchidism
Mitral valve prolapse
Joint laxity, Scoliosis
Give the genetic abnormality in Prader–Willi syndrome
Loss of paternally expressed genes on chromosome 15q11-q13 (bands 11 to 13 on the long arm of chromosome 15)
Give the genetic abnormality in Angelman syndrome
No maternal (but two paternal) copies of chromosome 15q11–13.
Point mutation within the UBE3A gene
List the clinical features in Prader–Willi syndrome
Characteristic facies
Weight gain and hyperphagia
Difficulty feeding
Hypotonia
Hypogonadism
Developmental delay
Faltering growth in infancy
Learning difficulties
Sleep abnormalities
Characteristic behaviours
* Temper tantrums
* Skin picking
Psychiatric disorders
* Psychosis
* Mood disorders
List the physical features in Prader–Willi syndrome
Short stature
Small hands and feet
Hypopigmentation
Ocular problems (e.g., strabismus, myopia)
Spinal deformities
Developmental dysplasia of the hip in neonates
List the prenatal signs of Prader–Willi syndrome
Polyhydramnios
Decreased foetal movements
Define Stillbirth
infant born with no signs of life ≥24 weeks of pregnancy
Define Preterm, Term, and Post-term
Preterm – gestation <37 weeks of pregnancy
Term – 37–41 weeks of pregnancy
Post-term – gestation ≥42 weeks of pregnancy
Define low birthweight, very low birthweight, and extremely low birthweight
Low birthweight – <2500 g
Very low birthweight – <1500 g
Extremely low birthweight – <1000 g
Define small for gestational age and large for gestational age
Small for gestational age – birthweight <10th centile for gestational age
Large for gestational age – birthweight > 90 th centile for gestational age
List the parameters for maternal blood screening
Blood group and antibodies – for Rh and other red cell incompatibilities
Hepatitis B
Syphilis
HIV infection
Neural tube defects
Down syndrome (trisomy 21), Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13)
Describe the screening process in Down syndrome (trisomy 21), Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13)
Risk estimate calculated from maternal age and maternal and fetoplacental hormones.
Combined with ultrasound screening of nuchal translucency
Confirmed with amniocentesis or chorionic villous sampling
List the causes for oligohydramnios
Reduced foetal production (dysplastic / absent kidneys, obstructive uropathy)
Preterm prelabour rupture of the membranes
Severe intrauterine growth restriction
List the causes for polyhydramnios
Maternal diabetes
Structural gastrointestinal abnormalities, e.g. oesophageal alatresia
List the main structural malformations detectable by ultrasound
Central nervous system
Neural tube defects – anencephaly, spina bifida, encephalocele
Ventriculomegaly, hydrocephalus
Microcephaly
Intrathoracic
Congenital diaphragmatic hernia
Congenital pulmonary airway malformation (CPAM)
Esophageal atresia
Facial
Cleft lip
Micrognathia
Gastrointestinal
Bowel obstruction, e.g. duodenal atresia
Abdominal wall defects - exomphalos and gastroschisis
Genitourinary
Dysplastic or cystic kidneys
Obstructive disorders of kidneys or urinary tract (hydronephrosis, distended bladder)
Skeletal - Skeletal dysplasias, e.g. achondroplasia and limb reduction deformities
Hydrops - Oedema of the skin, pleural effusions, and ascites
Chromosomal- trisomies (Down, Edwards, Patau)
Define Pre-eclampsia
New onset of hypertension (>140 mmHg systolic or >90 mmHg diastolic) after 20 weeks of pregnancy and the coexistence of 1 or more of the following new-onset conditions:
Proteinuria
Renal insufficiency (creatinine >90 micromol/litre, >1.02 mg/100 ml).
Liver involvement (elevated ALT and AST >40 IU/litre] with or without right upper quadrant or epigastric abdominal pain).
Neurological complications
* Eclampsia
* Altered mental status
* Blindness
* Stroke
* Clonus
* Severe headaches
* Persistent visual scotomata.
Haematological complications
* Thrombocytopenia
* Disseminated intravascular coagulation
* Haemolysis.
Uteroplacental dysfunction
* Foetal growth restriction
* Abnormal umbilical artery doppler waveform analysis
* Stillbirth
List three scenarios neonates may be born preterm
spontaneous labour with intact membranes (40%–50%)
preterm premature rupture of the membranes (25%–30%)
labour induction or caesarean delivery for maternal or foetal indications (35%–40%)
List the main causes for preterm delivery
Idiopathic
Intrauterine stretch
* Multiple gestation
* Polyhydramnios
* Uterine anomaly
Intrauterine infection
* Chorioamnionitis
* Bacterial vaginosis
* Preterm premature rupture of membranes
Intrauterine bleeding
* Abruption
* Antepartum haemorrhage
Endocrine maturation - premature onset of labour
Cervical weakness
Fetus
* IUGR
* Congenital anomalies
* Chromosomal anomalies
Maternal medical conditions
* Pre-eclampsia, hypertension
* Chronic medical conditions
* Urinary tract infection
* Asymptomatic bacteriuria
* Malaria
* Psychological stress
List the investigations to predict premature labour
Cervical length - cervical lengths <2 cm are associated with higher risks of delivery
Foetal fibronectin - detected in cervico-vaginal secretions
Insulin-like growth factor binding protein-1 (IGFBP-1) test
Placental alpha microglobulin-1 (PAMG-1) test
List the management approaches in preterm delivery
Antenatal corticosteroids - reduce rates of respiratory distress syndrome, intraventricular haemorrhage and neonatal death
Antibiotics - reduce risk of chorioamnionitis and neonatal infection for preterm premature rupture of the membranes
Progesterone - prophylactically to reduce risk of preterm birth in those at high risk of preterm labour
Tocolysis - suppress uterine contractions to suppress labour and allow completion of antenatal steroids and transfer to a centre with the appropriate neonatal services.
Magnesium sulphate - reduces the incidence of cerebral palsy
List the foetal problems in maternal diabetes
Congenital malformations
* Cardiac malformations
* Sacral agenesis (caudal regression syndrome)
* Hypoplastic left colon
IUGR
Macrosomia
List the complications of macrosomia
Cephalopelvic disproportion
Birth asphyxia
Shoulder dystocia
Brachial plexus injury
Give the pathophysiology of macrosomia in maternal diabetes
Maternal hyperglycemia causes foetal hyperglycemia
Foetus responds with increased secretion of insulin as insulin does not cross the placenta
Insulin promotes growth by increasing both cell number and size
List the neonatal problems in maternal diabetes
Hypoglycemia (foetal hyperinsulinism)
Respiratory distress syndrome (delayed surfactant maturation)
Hypertrophic cardiomyopathy
Polycythaemia
List the signs of foetal hyperthyroidism
Foetal tachycardia
Foetal goitre on ultrasound
List the signs of neonatal hyperthyroidism
Tachycardia
Heart failure
Vomiting, Diarrhoea
Poor weight gain (despite good intake)
Jitteriness
Goitre
Exophthalmos
Give the effect of maternal SSRI use on the foetus
Persistent pulmonary hypertension of the newborn
Give the effect of maternal radioactive iodine use on the foetus
Hypothyroidism
Give the effect of maternal valproate/carbamazepine/hydantoin use on the foetus
Midfacial hypoplasia
CNS, limb and cardiac malformations
Developmental delay
Give the effect of maternal lithium use on the foetus
Congenital heart disease
Give the effect of maternal tetracycline use on the foetus
Enamel hypoplasia of the teeth
Yellow-brown staining
Give the effect of maternal thalidomide use on the foetus
Limb shortening (phocomelia)
Give the effect of maternal Vitamin A and retinoids use on the foetus
Increased spontaneous abortions
Abnormal facies
Give the effect of maternal Warfarin use on the foetus
Interferes with cartilage formation (nasal hypoplasia and epiphyseal stippling)
Ocular, skeletal abnormalities
Give the classification of foetal alcohol spectrum disorder
Foetal alcohol syndrome (FAS)
Partial FAS
Alcohol-related neurodevelopmental disorder
Alcohol-related birth defects
FASD with and without sentinel facial features
Give the presentation of foetal alcohol spectrum disorder
Delayed developmental milestones
Infants: poor feeding, growth retardation, irritability, developmental delay
Children: growth retardation, problems with language, speech, hearing, vision, learning, behaviour, attention, and academic achievement
Adolescents: drug and alcohol abuse, poor educational performance, poor social skills, contact with juvenile justice or incarceration
List the facial dysmorphologies in FASD
Short palpebral fissure
Thin upper lip
Smooth philtrum
Flat midface
Large ears with ‘railroad-track’ ear abnormality
Epicanthic folds, Hypertelorism (wide-spaced eyes), Ptosis, Microphthalmia
Micrognathia (undersized jaw)
Cleft lip and/or palate
List the musculoskeletal anomalies in FASD
Hypoplastic nails
Shortened fifth fingers
Radioulnar synostosis
Flexion contractures
Camptodactyly
Clinodactyly of the fifth finger
Pectus excavatum or carinatum
Klippel-Feil syndrome
Hemivertebrae
Scoliosis
Hockey-stick palmar creases
List the renal anomalies in FASD
Aplastic, dysplastic, or hypoplastic kidneys
Ureteral duplication
Hydronephrosis
Horseshoe kidneys
List the ocular anomalies in FASD
Strabismus
Retinal vascular anomalies
Refractive problems
List the ear anomalies in FASD
Conductive and/or sensorineural hearing loss
Structural ear abnormalities (e.g., ‘railroad-track’ ear)
List six common congenital infections
Rubella
Cytomegalovirus (CMV)
Toxoplasma gondii
Parvovirus
Varicella zoster
Syphilis
List the clinical features of congenital Rubella infections
CataRacts
Congenital heart disease
Deafness
List the clinical features of congenital CMV infections
HepatosplenoMegaly
Petechiae
Neurodevelopmental disabilities
* Sensorineural hearing loss
* Cerebral palsy
* Epilepsy
* Cognitive impairment
List the clinical features of congenital Toxoplasmosis infections
Retinopathy, acute fundal chorioretinitis
Cerebral calcification
Hydrocephalus
List the clinical features of congenital parvovirus B19 infections
Foetal anaemia (aplastic anaemia), causing
* foetal hydrops (oedema and ascites from heart failure)
* intrauterine death
List the clinical features of congenital Varicella zoster infections
(Foetal varicella syndrome)
Severe scarring of the skin
Ocular and neurological damage
Digital dysplasia
When is Apgar score measured?
at 1 minute and 5 minutes after delivery
List the components in Apgar score
Heart rate
2: >100 BPM
1: <100 BPM
0: absent
Respiratory effort
2: regular, strong cry
1: grasping / irregular
0: absent
Muscle tone
2: well flexed, active
1: some flexion of limbs
0: flaccid
Reflex irritability
2: cry, cough
1: grimace
0: none
Colour
2: pink
1: body pink, extremities blue
0: pale/blue
What does the Newborn blood spot screening screen for?
Congenital hypothyroidism
Haemoglobinopathies (sickle cell and thalassaemia)
Cystic fibrosis
Six inherited metabolic diseases:
* phenylketonuria
* MCAD (medium-chain acyl-coenzyme A dehydrogenase deficiency)
* maple syrup urine disease
* isovaleric acidaemia
* glutaric aciduria type 1
* homocystinuria
List the Potential medical problems in a preterm infant
Need for resuscitation and stabilisation at birth
Respiratory:
* respiratory distress syndrome
* pneumothorax
* apnoea and bradycardia
* Bronchopulmonary dysplasia (BPD)
Hypotension
Patent ductus arteriosus
Anaemia of prematurity
Retinopathy of prematurity
Temperature control
Metabolic:
* hypoglycaemia
* hypocalcaemia
* electrolyte imbalance
* osteopenia of prematurity
Difficulty establishing feeding
Extra-uterine growth impairment
Intraventricular haemorrhage/periventricular leukomalacia
Jaundice
Necrotizing enterocolitis
Inguinal hernias
Infection
Give the pathophysiology of respiratory distress syndrome
Surfactant lowers surface tension
Surfactant deficiency leads to widespread alveolar collapse and inadequate gas exchange.
Where is surfactant excreted?
type II pneumocytes of the alveolar epithelium
List the clinical signs in respiratory distress syndrome
Tachypnoea >60 breaths/minute
Increased work of breathing - chest wall recession and nasal flaring
Expiratory grunting
Cyanosis
Give the X ray sign in respiratory distress syndrome
Diffuse granular or ‘ground glass’ appearance of the lungs
List the managements for respiratory distress syndrome
Antenatal glucocorticoids to stimulate foetal surfactant production
Supplemental oxygen
Non-invasive respiratory support
* CPAP
* High-flow nasal cannula therapy
Surfactant therapy
Mechanical ventilation
Define Bronchopulmonary dysplasia
Infants who still have an oxygen requirement at a corrected gestational age of 36 weeks
List the causes of Bronchopulmonary dysplasia
Delay in lung maturation
Infection
Oxygen toxicity
Pressure and volume trauma from artificial ventilation
List the X ray signs of bronchopulmonary dysplasia
Widespread areas of opacification
Cystic changes
Fibrosis, lung collapse
Give the management in bronchopulmonary dysplasia
Corticosteroid therapy
List the complications of hypothermia in a preterm infant
Hypoxia
Hypoglycemia
Failure to gain weight
Why are preterm infants particularly vulnerable to hypothermia
Large surface area relative to mass
Skin is thin and heat permeable
Little subcutaneous fat for insulation
Nursed naked
List four ways of preventing heat loss in newborn infants
Convection
* Raise temperature of ambient air in incubator
* Clothe, including covering head
* Avoid draughts.
Radiation
* Cover baby
* Double walls for incubators.
Evaporation
* Dry and wrap at birth
* If extremely preterm, place baby’s body directly into plastic bag at birth without drying
* Humidify incubator
Conduction
* Nurse on a heated mattress
Define Necrotizing enterocolitis
Ischaemic injury and bacterial invasion of the bowel wall and altered gut microbiome
Give one risk factor for Necrotizing enterocolitis
Intrauterine growth restriction
List the early signs of necrotising enterocolitis
Feed intolerance
Vomiting, maybe bile stained
Distended abdomen
Fresh blood in stool
Shock, requiring mechanical ventilation
May progress to bowel perforation
List the X ray signs of necrotising enterocolitis
Distended loops of bowel
Thickening of the bowel wall with intramural gas
Gas in portal venous tract
Air under diaphragm from bowel perforation
List the management for necrotising enterocolitis
Stop oral feeding
Broad-spectrum antibiotics
List the complications for necrotising enterocolitis
Bowel strictures
Malabsorption if extensive bowel resection
Poor neurodevelopmental outcomes
List the reasons of physiological jaundice
marked physiological release of haemoglobin from the breakdown of red cells because of the high haemoglobin concentration at birth
the red cell lifespan of newborn infants (70 days) is markedly shorter than that of adults (120 days)
hepatic bilirubin metabolism is less efficient in the first few days of life
Give the inheritance of Crigler-Najjar syndrome
autosomal recessive
List the causes of neonatal jaundice within 24 hours
Rh (rhesus) incompatibility
ABO incompatibility
G6PD deficiency
Spherocytosis, pyruvate kinase deficiency
Congenital infection (Parvovirus B19)
List the causes of neonatal jaundice between 24 hours to 2 weeks of age
Physiological jaundice
Breast milk jaundice
Infection, e.g. urinary tract infection
Haemolysis, e.g. G6PD deficiency, ABO incompatibility
Bruising
Polycythaemia
Crigler-Najjar syndrome (autosomal recessive)
List the causes of jaundice more than 2 weeks of age
Unconjugated:
* Physiological or breast milk jaundice
* Urinary tract infection
* Hypothyroidism
* Haemolytic anaemia, e.g. G6PD deficiency
* High gastrointestinal obstruction, e.g. pyloric stenosis
Conjugated (>25 μmol/l):
* Bile duct obstruction
* Neonatal hepatitis
Define kernicterus
encephalopathy from the deposition of unconjugated bilirubin in the basal ganglia and brainstem nuclei.
List the acute manifestations of kernicterus
Lethargy
Poor feeding
List the severe signs of kernicterus
Irritability
Opisthotonos
Seizures
Coma
List the long term complications of kernicterus
Choreoathetoid cerebral palsy (damage to basal ganglia)
Learning difficulties
Sensorineural hearing loss
List the classification of Vitamin K Deficiency Bleeding
Early VKDB <24 hours of birth
Classic VKDB 1~7 days
Late VKDB week 2~12
List the risk factors for Vitamin K Deficiency Bleeding
Early form - Maternal drugs
* Isoniazid
* Rifampicin
* Anticoagulants
* Anticonvulsants
Classic form
* Idiopathic
* Low placental transfer of vitamin K
* Low concentration in breast milk
* Lack of gastrointestinal flora in the newborn gut
* Poor oral intake
Preterm infants
* Delayed feeding and delayed colonisation of gastrointestinal system with vitamin K producing microflora
* Immature hepatic and haemostatic function
Late form
* Warm environmental temperatures
* Alpha-1-antitrypsin deficiency
* Malabsorption of fat-soluble vitamins - diarrhoea, coeliac disease or cystic fibrosis
List the symptoms in early VKDB
Bleeding from the scalp monitor site
Cephalhematoma
Intracranial bleeding after a traumatic delivery - irritability and convulsions
Intrathoracic bleeding - blood-stained sputum, with or without respiratory distress
Intra-abdominal bleeding - melaena
Tachycardia - exsanguination
List the symptoms of classic VKDB
Gastrointestinal bleeding
Bleeding from the skin and mucous membranes
Prolonged bleeding following circumcision.
Bleeding from the umbilical stump
List the symptoms of late VKDB
Typically intracranial haemorrhage
Give the management in VKDB
Subcutaneous vitamin K supplement
Fresh frozen plasma in severe bleeding / intracranial haemorrhage
List the causes of respiratory distress in term infants
Pulmonary causes
Transient tachypnoea of the newborn (common)
Meconium aspiration
Pneumonia
Pneumothorax
Respiratory distress syndrome
Persistent pulmonary hypertension of the newborn
Pulmonary hypoplasia
Diaphragmatic hernia
Tracheo-oesophageal fistula
Milk aspiration
Airways obstruction, e.g. choanal atresia
Pulmonary haemorrhage
Non-pulmonary
Congenital heart disease
Hypoxic–ischaemic/neonatal encephalopathy
Severe anaemia
Metabolic acidosis
Sepsis
List the causes for Persistent pulmonary hypertension of the newborn
Hypoxic–ischaemic encephalopathy
Meconium aspiration
Septicaemia
Respiratory distress syndrome
Oligohydramnios
Pulmonary hypoplasia
Maternal diabetes
In utero closure of ductus arteriosus
Small and large for gestational age status
Congenital anomalies
* Transposition of great arteries
* Congenital diaphragmatic hernia
List the maternal risk factors for Persistent pulmonary hypertension of the newborn
Obesity
Diabetes
Pre-eclampsia
Chorioamnionitis
Smoking
SSRI and NSAID use
List the managements for Persistent pulmonary hypertension of the newborn
Mechanical ventilation
Inhaled nitric oxide
Sildenafil
List the clinical features of neonatal meningitis
Tense / bulging fontanelle
Opisthotonos
List the clinical features of neonatal sepsis
Respiratory distress
Fever, temperature instability, hypothermia
Poor feeding
Vomiting
Apnoea and bradycardia
Abdominal distension
Jaundice
Neutropenia
Hypoglycaemia/hyperglycaemia
Shock
Irritability
Seizures
Lethargy, drowsiness
List the risk factors for Group B streptococcal (S. agalactiae) infection
Preterm prolonged rupture of the membranes
Prolonged (>18 hours) or prelabour rupture of the membranes
Intrapartum fever >38°C
Chorioamnionitis
Previous child with GBS infection
GBS bacteriuria during pregnancy
How may L. monocytogenes be transmitted to the mother?
Unpasteurised milk
Soft cheese
Undercooked poultry
List the complications of maternal L. monocytogenes infection
Spontaneous abortion
Preterm delivery
Foetal/neonatal sepsis
List the characteristic features for L. monocytogenes infection
Meconium staining of the amniotic liquor in preterm infants
Widespread rash
Septicaemia
Pneumonia
Meningitis
List the causes for HIE
Failure of gas exchange across the placenta
* excessive / prolonged uterine contractions
* placental abruption
* ruptured uterus
Cord compression
* shoulder dystocia
* cord prolapse
Inadequate maternal placental perfusion – maternal hypo/hypertension
Compromised foetus
* intrauterine growth restriction
* anaemia
Failure of cardiorespiratory adaptation at birth – failure to breathe
List the clinical features and grading in HIE
Mild (grade 1)
Irritable
Responds excessively to stimulation
May have staring of the eyes
Hyperventilation
Moderate (grade 2)
Marked abnormalities of movement
Hypotonic
Cannot feed as cannot suck
Brief apnoeas
Seizures
Severe (grade 3)
No normal spontaneous movements or response to pain
Hypotonic
Prolonged, refractory seizures
Multi-organ failure
When may brachial nerve palsy occur in?
Breech deliveries
Shoulder dystocia
Which nerve roots are injured in Erb palsy?
C5/6
Give the clinical sign in Erb palsy
‘waiter’s tip hand’.
The arm hangs limply from the shoulder with internal rotation of the forearm plus wrist and finger flexion.
Give the clinical sign in phrenic nerve palsy
Elevated diaphragm
List the causes of neonatal seizures
Hypoxic–ischaemic encephalopathy
Intracranial haemorrhage
Cerebral anomalies
Infection
* Septicaemia
* Meningitis
* Encephalitis
* Congenital infection
Metabolic:
* Hypoglycaemia
* Hypocalcaemia
* Hyponatraemia/hypernatraemia
* Inborn errors of metabolism
Drugs: neonatal abstinence syndrome
Kernicterus
Other
* Pyridoxine dependency
* Genetic epilepsy syndrome
List the investigations in neonatal seizures
Continuous single-channel EEG (amplitude-integrated EEG)
Cerebral ultrasound - identify haemorrhage / cerebral anomaly
MRI - cerebral ischaemic lesions
Where does the Neonatal arterial ischaemic stroke most often affect?
MCA
List the complications of Pierre Robin sequence
Difficulty feeding
Cyanotic episodes (obstruction of the upper airways as the tongue falls back)
Growth faltering
Give the presentation of perinatal stroke
Seizures at 12~48 hours
What is oesophageal atresia associated with?
89% atresia with tracheo-oesophageal fistula
10% atresia without fistula
<1% H-type fistula without atresia
List the pre-natal signs of oesophageal atresia
Polyhydramnios during pregnancy
Absent stomach bubble on antenatal ultrasound screening
List the presentation of oesophageal atresia
Persistent salivation and drooling from the mouth
Cough and choke when fed
Cyanotic episodes
Aspiration
List the complications of oesophageal atresia
gastro-oesophageal reflux
chronic cough
esophageal dilation
List the clinical features in small bowel obstruction
Persistent vomiting - Bile stained unless obstruction is above the ampulla of Vater
Abdominal distention
List the causes for small bowel obstruction
Duodenal atresia / stenosis
* ⅓ have Down syndrome
Atresia / stenosis of the jejunum or ileum
Malrotation with volvulus
Meconium ileus (cystic fibrosis)
List the causes for large bowel obstruction
Meconium plug
Hirschsprung disease
Anorectal malformation
List the items in VACTERL
Vertebral
Anorectal
Cardiac
Tracheo-oesophageal
Renal
Radial limb anomalies
List the surgical causes of acute abdominal pain
Acute appendicitis
Intussusception
Malrotation and volvulus
Peritonitis
Inflamed Meckel diverticulum
Inguinal hernia
Trauma
List the medical causes of acute abdominal pain
Constipation
Gastroenteritis
Urinary tract
* UTI
* Acute pyelonephritis
* Hydronephrosis
* Renal calculus
Henoch-Schonlein purpura
Diabetic ketoacidosis
Sickle cell disease
Hepatitis
Inflammatory bowel disease
Pancreatitis
Functional abdominal pain disorders
Gynaecological in pubertal females
Psychological
Lead poisoning
Acute porphyria
Unknown
List the extra-abdominal causes of acute abdominal pain
URTI
Lower lobe pneumonia
Torsion of the testis
Hip and spine
List the clinical features in acute appendicitis
Anorexia
Vomiting
Fever
Abdominal pain
* Initially central and colicky, then localises to the right iliac fossa
* Aggravated by movement
Persistent tenderness with guarding in the right iliac fossa (McBurney’s point)
Give the aetiology of intussusception
hyperplasia of Peyer’s patches and lymphoid tissue act as the lead point
Give the most common anatomical location of intussusception
ileocaecal valve
What age does intussusception most commonly occur
Most commonly occurs in infants aged 3-12 months, with a peak at the age of approximately 9 months.
List the causes of Intussusception in older children and adults
(Pathological lead point)
Luminal polyps
Malignant tumours
Benign mass lesions
* Lipomata
* Meckel’s diverticulum
* Henoch-Schonlein purpura
* Enteric duplication cysts
Rotavirus vaccine
Give the pathophysiology of intussusception
Mesentery is dragged alongside the proximal bowel wall into the distal lumen resulting in obstruction of venous return, causes:
* Oedema
* Mucosal bleeding
* Increased pressure
If arterial flow becomes compromised, causes
* Ischaemia
* Necrosis
* Perforation
List the presentations in intussusception
Colicky abdominal pain
Flexing of the legs
Fever
Lethargy
Vomiting
Redcurrant jelly stool or rectal bleeding
Sausage shaped mass - often palpable in the abdomen
Abdominal distension, shock
List the ultrasound signs in intussusception
3 to 5 cm mass deep to the right-sided abdominal wall
Doughnut sign
List the Plain-film abdominal x-ray signs in intussusception
Soft tissue mass
Empty right lower quadrant
Air in dislocated appendix
Signs of small-bowel obstruction
List the management in intussusception
Fluid resuscitation
Antibiotics
Contrast enema reduction
List the contraindications for contrast enema reduction in intussusception
Peritonitis
Perforation
Toxic colitis
Hypovolemic shock
Prolonged symptoms
Intestinal ischaemia / trapped fluid
Bowel obstruction
List the rule of 2s in Meckel diverticulum
2% prevalence
2:1 male:female ratio for symptomatic presentations
Location most commonly 2 feet (60 cm) proximal to ileocaecal valve in adults
2 types of ectopic tissue (gastric and pancreatic)
Commonly 2 inches (5 cm) long
½ of those symptomatic are <2 age
Give the embryology of Meckel diverticulum
Failure of obliteration of the vitelline duct.
In the 3-week-old embryo, the yolk sac communicates with the gut through the vitelline duct, which receives its blood supply from paired vitelline arteries.
During week 8, the duct is normally obliterated when the placenta replaces the yolk sac as the source of foetal nutrition.
The left vitelline artery usually involutes and the right one forms the superior mesenteric artery.
List the presentations of Meckel diverticulum
Acute, episodic, painless GI bleeding
Small bowel obstruction
* Obstipation, crampy abdominal pain, nausea and vomiting
* Palpable abdominal mass (intussusception)
Meckel’s diverticulitis
* Abdominal pain in the periumbilical area that radiates to the right lower quadrant
* Inflammation, necrosis, and perforation
List the investigations for Meckel diverticulum presenting with bleeding
FBC
Technetium-99m pertechnetate scan (Meckel’s scan)
Mesenteric angiography
Surgical abdominal exploration
List the investigations for Meckel diverticulum presenting with obstruction
CT scan
Ultrasound
Contrast enema if intussusception
Urgent abdominal exploration if intestinal ischaemia / perforation
List the investigations for Meckel diverticulum presenting with inflammation
CT scan
Give the aetiology of Intestinal malrotation
Lack of intestinal fixation to the retro-peritoneum and a narrow midgut mesenteric base that predisposes to a twisting of the small bowel
Predisposes to a risk of midgut volvulus.
What may Intestinal malrotation present with Obstruction with ischaemia
Acutely ill with severe abdominal pain
Sudden onset bilious vomiting
Tachycardia, Tachypnoea
Abdominal tenderness
Acidosis
Signs of peritoneal catastrophe (rebound and guarding)
What may Intestinal malrotation present with Obstruction without ischaemia
Bilious vomiting
Crampy abdominal pain in waves
Non-tender abdomen
Non-distended abdomen
No severe physiological perturbation
What may Intestinal malrotation present with Intermittent or partial volvulus or obstructing Ladd’s bands
Intermittent vomiting
Intermittent abdominal pain (typically post-prandial)
Weight loss
No signs of acute illness
List the investigations for intestinal malrotation
Upper GI contrast series
CT abdomen with contrast
Abdominal plain x-rays
FBC
Describe the Ladd’s procedure
Detorsion of the volvulus
Lysis of Ladd’s bands
Separation of the duodenum and caecum by broadening the mesenteric base
Once the duodenum and caecum are separated, the small bowel is placed in the right peritoneal cavity and the colon on the left.
List the causes of recurrent abdominal pain
Gastrointestinal
* Constipation
* Peptic ulceration/gastritis
* Eosinophilic oesophagitis
* Inflammatory bowel disease
* Malrotation
Heapatobiliary/pancreatic
* Hepatitis
* Gall stones
* Pancreatitis
Urinary tract
* Urinary tract infection
* Pelvi-ureteric junction obstruction
* Renal calculi
Gynaecological
* Dysmenorrhoea
* Ovarian cysts
* Pelvic inflammatory disease
Functional abdominal pain disorders
* Irritable bowel syndrome
* Abdominal migraine
* Functional dyspepsia
* Functional abdominal pain
List the red flag symptoms of recurrent abdominal pain suggesting organic disease
Persistent pain away from the umbilicus
Persistent vomiting
Family history of inflammatory bowel disease, coeliac disease, or peptic ulcer disease
Epigastric pain at night
Haematemesis – duodenal ulcer
Diarrhoea, weight loss, growth faltering, blood in stool – inflammatory bowel disease
Dysphagia – eosinophilic oesophagitis
Dysuria, secondary enuresis – urinary tract infection
Night time waking
Gastrointestinal blood loss
Peri-anal disease
Delayed puberty
List the screening tests in recurrent abdominal pain to identify organic disorders
FBC with differential
ESR, CRP for inflammation
Coeliac serology
Amylase – for pancreatitis
Urea and electrolytes
Liver function tests
Ultrasound abdomen
Thyroid function tests
Urinalysis / urine culture – urinary tract infection / haematuria from renal calculi
Faecal calprotectin – inflammatory bowel disease
List the entities of Functional abdominal pain disorders
Irritable bowel syndrome
Abdominal migraine
Functional dyspepsia
Functional abdominal pain
List the contributing factors in Functional abdominal pain disorders
Genetic predisposition
Sensitising psychosocial events
* Depression
* Anxiety
* Family stress
* Coping style
* Secondary gains
* Maltreatment history
* Stress
Sensitising medical events
* Distension (infection, allergies)
* Inflammation
* Altered gut microbiome
* Motility disorder
List the presentation of Irritable bowel syndrome
Periumbilical pain related to
* Defecation
* Alteration in stool frequency
* Change in appearing of stool (diarrhoea / constipation)
Give the management in Irritable bowel syndrome
low FODMAP diets – Fermentable Oligo-saccharides, Di-saccharides, Mono-saccharides And Polyols
List the presentations in Abdominal migraine
Paroxysms of intense, acute periumbilical, midline or diffuse abdominal pain.
Lasts at least an hour, interferes with normal activities.
Anorexia
Nausea and vomiting
Headaches, Photophobia
Pallor
Personal / family history of migraine
Similar triggers to migraine - Stress, Fatigue, Travel
Similar relieving factors - Rest and sleep
List the presentations of Functional dyspepsia
Postprandial fullness or early satiety
Abdominal bloating
Nausea, excessive belching
Severe pain, burning in epigastric area
Pain not relieved by defecation
Give the management in functional dyspepsia
Histamine receptor antagonists
Proton pump inhibitors
List the causes of vomiting in infants
Gastro-oesophageal reflux
Feeding problems
Infection
* Gastroenteritis
* Respiratory tract/otitis media
* Whooping cough (pertussis)
* Urinary tract
* Meningitis
Food/milk allergy / intolerance
Intestina obstruction
* Pyloric stenosis
* Duodenal atresia
* Intussusception
* Malrotation
* Volvulus
* Duplication cysts
* Strangulated inguinal hernia
* Hirschsprung disease
Inborn errors of metabolism
Congenital adrenal hyperplasia
Renal failure
List the causes of vomiting in preschool children
Gastroenteritis
Infection
* Respiratory tract/otitis media
* Urinary tract
* Meningitis
* Whooping cough (pertussis)
Appendicitis
Intestinal obstruction
* Intussusception
* Malrotation
* Volvulus
* Adhesions
* Foreign body
Raised ICP
Coeliac disease
Eosinophilic oesophagi’s
Renal failure
IEM
Testicular torsion
List the causes of vomiting in school age and adolescents
Gastroenteritis
Infection
* Pyelonephritis
* Sepsis
* Meningitis
Peptic ulceration
Appendicitis
Migraine
Raised ICP
Coeliac disease
Eosinophilic oesophagi’s
Renal failure
Diabetic ketoacidosis
Alcohol/drug
Cyclical vomiting syndrome
Bulimia/anorexia nervosa
Pregnancy
Testicular torsion
List the causes for bile-stained vomit
Intestinal obstruction
List the causes for Haematemesis in children
Oral/nasal bleeding
Oesophagitis
Oesophageal variceal bleeding
Peptic ulceration
Give the cause of Projectile vomiting
Pyloric stenosis
List the cause of Vomiting at the end of paroxysmal coughing
Whooping cough (pertussis)
List the causes of vomiting with hepatosplenomegaly
Chronic liver disease
Inborn error of metabolism
List the causes of vomiting with abdominal distension
Intestinal obstruction
Ascites
List the causes of vomiting with blood in the stool
Intussusception
Bacterial gastroenteritis
Inflammatory bowel disease
List the causes of vomiting with severe dehydration/shock
Severe gastroenteritis
Systemic infection (urinary tract infection, meningitis)
Diabetic ketoacidosis
List the causes of vomiting with bulging fontanelle / seizures
Raised intracranial pressure
Meningitis
List the causes of vomiting with Faltering growth
Gastro-oesophageal reflux disease
Coeliac disease
Chronic gastrointestinal conditions
List the complications of Gastro-oesophageal reflux disease in children
Faltering growth from severe vomiting
Dystonic neck posturing (Sandifer syndrome)
Oesophagitis
* Haematemesis
* Discomfort on feeding or heartburn
* Iron-deficiency anaemia
Recurrent pulmonary aspiration
* Recurrent pneumonia
* Cough / wheeze
* Apnoea in preterm infants
What is Gastro-oesophageal reflux disease commonly associated with
Cerebral palsy / other neurodevelopmental disorders
Preterm infants
Following surgery for esophageal atresia or diaphragmatic hernia
Obesity
Hiatus hernia
List the clinical features of pyloric stenosis
Non-bilious vomiting (eventually projectile)
* Hypochloraemic hypokalaemic metabolic alkalosis
* Hyponatraemia
Feeds normally after vomiting until dehydration leads to loss of interest in feeding
Weight loss if delayed presentation
Visible gastric peristalsis from left to right
List the managements in pyloric stenosis
Correct acid-base electrolyte balance
IV fluid rehydration
Polymyotomy
List the presentations in Eosinophilic oesophagitis
Bolus dysphagia (‘food getting stuck’)
Discomfort on swallowing
Heartburn, Regurgitation
Vomiting
Abdominal pain
What is Eosinophilic oesophagitis associated with
Other atopic conditions:
Asthma
Atopic dermatitis
Allergic rhinitis/sinusitis
Food allergies
Describe the pathophysiology of eosinophilic oesophagitis
Th2-mediated allergic process
Th2 cytokines (IL5, 4,13) cause eosinophilic infiltration
Eosinophilic activation causes:
1. Direct cellular injury by degranulation - compromises the normal barrier function of the oesophageal mucosa, making it leaky
2. Recruiting other inflammatory cells, eg. mast cells, and perpetuating ongoing inflammation
3. Producing profibrotic factors (e.g., transforming growth factor beta) that can lead to smooth muscle dysfunction and collagen deposition - Clinically swallowing dysfunction and oesophageal stricture formation
Give the investigation in eosinophilic oesophagitis
Oesophagogastroduodenoscopy with biopsy
List the macroscopic and microscopic signs of eosinophilic oesophagitis
Macroscopically:
Fixed oesophageal rings
Focal oesophageal strictures
Diffuse oesophageal narrowing
Oedema / congestion of the mucosa with loss of normal vascular markings
Linear furrows
White plaques or exudates (histologically eosinophilic microabscesses)
Crêpe-paper mucosa (a sign of mucosa fragility where the oesophageal mucosa tears from insufflation or passage of the scope).
Microscopically:
eosinophilic infiltration of the oesophageal epithelium
≥15 eosinophils per high-power microscopy field
List the management in eosinophilic oesophagitis
Swallowed corticosteroids
* Fluticasone
* Budesonide
List the causes of gastroenteritis in children
Viruses
Norovirus
Enteric adenovirus
Astrovirus
Bacteria - presence of blood in stools
Dysentery - blood and pus in stool, abdominal pain, tenesmus
* Campylobacter jejuni
* Shigella (may be accompanied by high fever)
* Samonella
Clostridium difficile (diarrhoea with chronic diseases)
Profuse, rapidly dehydrating diarrhoea:
* Cholera
* Enterotoxigenic E Coli
Protozeoan parasite
Giardia
Cryptosporidium
List the classification of dehydration
No clinically detectable dehydration (<5% loss of body weight)
Clinical dehydration (5%–10% loss of body weight)
Shock (>10% loss of body weight)
Give the clinical management of dehydration
Oral rehydration therapy - sodium and glucose
(Increase active sodium and passive water absorption)
IV fluids
Who may be at increased risk of dehydration from gastroenteritis
infants, <6 months/low birthweight
passed five or more diarrhoeal stools in the previous 24 hours
vomited more than twice in the previous 24 hours
unable to tolerate supplementary fluids
malnutrition / immune deficiency
Define postgastroenteritis syndrome
Following an episode of gastroenteritis, the introduction of a normal diet results in a return of watery diarrhoea.
List the presentations of malabsorption
Abnormal stools
Poor weight gain / faltering growth
Specific nutrient deficiencies
List the causes of malabsorption in children
Cholestatic liver disease / biliary atresia
Lymphatic leakage / obstruction
Short bowel syndrome
Crohn disease
Cystic fibrosis (exocrine pancreatic dysfunction)
Coeliac disease
Transient lactase deficiency following gastroenteritis
Glucose-galactose malabsorption
Acrodermatitis enteropathica (zinc malabsorption, erythematous rash around mouth and anus)
List the symptoms and signs of coeliac disease
Diarrhoea – intermittent or chronic
Nausea / vomiting / abdominal pain / abdominal distension / constipation
Faltering growth or weight loss
Delayed puberty
Short stature
Unexplained iron-deficiency anaemia resistant to treatment
Unexplained liver disease
Lethargy / weakness
Arthritis / arthralgia
Neuropathy
Dermatitis herpetiformis
Osteoporosis / pathological fractures
Recurrent aphthous stomatitis
Dental enamel defects
List the investigations for coeliac disease
IgA anti-tTG
IgA EMA
Duodenal biopsy
List the signs of coeliac disease on duodenal biopsy
Villous blunting
Crypt hyperplasia
Intraepithelial lymphocytosis
List the secondary causes of lactase deficiency
(Injury to the small intestine mucosa)
Small bowel causes
* Viral gastroenteritis (rotavirus)
* Giardiasis
* HIV enteropathy
* Coeliac disease
* Whipple’s disease (intestinal lipodystrophy)
Multisystem causes
* Carcinoid syndrome
* Cystic fibrosis
* Diabetic gastropathy
* Kwashiorkor
* Zollinger-Ellison syndrome
Iatrogenic
* Chemotherapy
* Colchicines
* Radiation enteritis
List the classifications of lactase deficiency
Primary
Secondary
Congenital hypolactasia
Developmental hypolactasia
Give the inheritance of Congenital hypolactasia
autosomal recessive
List the GI symptoms for lactase deficiency
Abdominal pain (cramping in periumbilical area)
Bloating
Borborygmi (‘tummy rumbling’)
Flatulence
Diarrhoea (explosive, bulky, frothy, watery)
Constipation
Nausea and vomiting
List the systemic symptoms of lactase deficiency
Headache and light-headedness
Loss of concentration and poor short-term memory
Long-term severe tiredness
Muscle pain
Joint pain, and/or swelling and stiffness
Allergy
* Eczema
* Pruritus
* Rhinitis
* Sinusitis
* Asthma
Heart arrhythmia
Mouth ulcers
Increased frequency of micturition
Sore throat
List the additional symptoms in secondary lactase deficiency cause by HIV enteropathy
Skin rashes
Kaposi sarcoma
List the additional symptoms in secondary lactase deficiency cause by eosinophilic enteritis
Anaemia
Weight loss
List the additional symptoms in secondary lactase deficiency cause by coeliac disease
Short stature
Anaemia
Weight loss
List the additional symptoms in secondary lactase deficiency cause by tropical sprue
Steatorrhoea
History of residence in endemic areas
List the additional symptoms in secondary lactase deficiency cause by Whipple’s disease
Joint pain
Arthritis
List the additional symptoms in secondary lactase deficiency cause by gastroenteritis
Fever
List the additional symptoms in secondary lactase deficiency cause by carcinoid syndrome
Flushing and palpitations
List the additional symptoms in secondary lactase deficiency cause by Zollinger-Ellison syndrome
Steatorrhoea
Peptic ulcer disease
Gastro-oesophageal reflux disorder
List the investigation and findings in lactase deficiency
Trial of dietary lactose elimination
FBC (anaemia in coeliac disease)
Lactose hydrogen breath test
* Given lactose at a dose of 2 g/kg after overnight fasting
* Breath hydrogen >20 ppm
Stool studies
* Faecal reducing substance (monosaccharide by-products of carbohydrate metabolism)
* Faecal pH - reduced in hypolactasia due to volatile fatty acids formed from carbohydrate malabsorption
Lactose tolerance test
Small bowel biopsy
List the management for primary lactase deficiency
Lactose-free diet
* Live-culture yoghurts, curds, and cheeses are better tolerated
* Lactose-free and lactose-reduced milks
Calcium and vitamin D supplementation
Lactase preparation
List the presentations for Crohn disease in children and young people
Classic presentation
* Abdominal pain
* Diarrhoea with/without blood
* Weight loss
Growth failure
Puberty delayed
Fever, lethargy
Extra-intestinal
* Oral lesions / perianal skin tags
* Uveitis
* Arthralgia
* Erythema nodosum
List the histology findings in Crohn’s disease
Mucosal inflammation
Crypt damage (cryptitis, architectural distortion, abscesses and crypt loss)
Ulceration
Define constipation
Presence of two or more of the clinical features:
* Fewer than three complete stools per week
* Hard, large stool
* ‘rabbit dropping’ stool
* Overflow soiling
List the Contributing factors to constipation
Pain
Fever
Inadequate fluid intake
Reduced dietary fibre intake
Toilet training issues
Drugs
* Sedating antihistamines
* Opiates
Psychosocial issues
Family history
Immobility eg. cerebral palsy
Neurodevelopmental disorder
What may constipation, abdominal distension with vomiting suggest
Hirschsprung disease
Intestinal obstruction
What may constipation with Ribbon stool pattern suggest
Anal stenosis
What may constipation with abnormal lower limb neurology / deformity suggest
neurological or spinal cord abnormality
Spina bifida occulta
What may constipation with perianal fistulae, abscesses, or fissures suggest
Perianal Crohn disease
What may constipation with faltering growth suggest
Hypothyroidism
Coeliac disease
List the management for constipation
Laxatives
* Macrogol (first-line)
* Senna
* Docusate
Balanced diet with sufficient fibre - fruit, vegetables, high-fibre bread, baked beans, and wholegrain breakfast cereals
Sufficient fluid intake
List the classification of laxatives
Osmotic laxatives - increase the amount of fluid in the large bowel, thereby softening the stool and stimulating peristalsis.
* Macrogol (Polyethylene glycol 3350 plus electrolytes)
* Lactulose
Stimulant laxatives - cause peristalsis by stimulating the colonic and rectal nerves
* Senna
* Docusate (also stool softening properties)
* Bisacodyl
* Sodium picosulfate
List the contraindications for laxatives
Intestinal obstruction or perforation
Paralytic ileus
Toxic megacolon
Inflammatory bowel disease
Galactosaemia (lactulose only)
List the classification of Hirschsprung’s disease
Typical (rectosigmoid)
Long-segment - extend to any level between the hepatic flexure and the descending colon
Total colonic aganglionosis
Ultrashort aganglionosis or short-segment
List the pathological features in Hirschsprung’s disease
Aganglionosis
Hypertrophied nerves
Increase in the enzyme acetylcholinesterase
Give the pathophysiology of Hirschsprung’s disease
Due to aganglionosis, the lumen is tonically contracted, causing a functional obstruction.
List the presentation in Hirschsprung’s disease
Abdominal distension
Delayed passage of meconium (not occurring in the first 24 to 48 hours of life)
Vomiting
Eneterocolitis (prolonged abdominal distension and faecal stasis)
Give the first line investigation for Hirschsprung’s disease
Contrast enema
Give the gold standard investigation for Hirschsprung’s disease
Rectal biopsy and histology
Give one plain abdominal x-ray sign of Hirschsprung’s disease
Dilated colon
Define stridor
Louder, constant-pitch sound over central airways
Define wheezing
Musical sound produced primarily during expiration
List the causes of an inspiratory stridor
(Supraglottic causes)
Extraluminal compression
* Goitre
* Retropharyngeal abscess
Intraluminal compression
* Malignancy
* Foreign body
Inflammatory
* Anaphylaxis
* Angioedema
* Epiglottitis
List the causes of a biphasic stridor
(Glottic/Subglottic)
Function
* Vocal fold paralysis
* Paradoxical vocal fold motion
Extraluminal compression
* Malignancy
* Vascular ring, aneurysm
Foreign body
Endotracheal intubation
List the causes of an expiratory stridor
(Tracheal)
Extraluminal compression
* Malignancy
* Mediastinal mass
* Vascular ring, aneurysm
Foreign body
Iatrogenic
* Endotracheal intubation
* Tracheostomy
Structural
* Tracheomalacia
* Connective tissue disorder
* GORD
Granulomatosis with polyangiitis
List the causes of wheeze
Bronchoconstriction
* Asthma
* COPD
* Anaphylaxis
* Carcinoid
Peribronchial pulmonary oedema
Infectious
* Bronchitis
* Bronchiolitis
* Parasite
Focal
* Mass
* Foreign body
* Consolidation
List the signs of impending respiratory failure
Cyanosis persistent grunting
Reduced oxygen saturation despite oxygen therapy
Rising pCO2 on blood gas
Exhaustion, confusion, reduced conscious level
List the causes of chronic / recurrent cough
Recurrent respiratory infections
Persistent bacterial bronchitis (persistently wet)
Respiratory infections
* Pertussis
* Respiratory syncytial virus
* Mycoplasma
Tuberculosis
Asthma (accompanied by wheezing)
Persistent lobar collapse following pneumonia
Suppurative lung diseases
* Cystic fibrosis
* Ciliary dyskinesia
* Immune deficiency
Recurrent aspiration (gastro-oesophageal reflux)
Inhaled foreign body
Cigarette smoking (active or passive)
Habit cough
Give the most common cause of common cold (coryza) in children
Rhinoviruses
List the causative organisms for common cold (coryza) in children
Viral
Rhinoviruses (majority)
Coronavirus
Influenza
Parainfluenza
Respiratory syncytial virus
Metapneumovirus
Bacterial
Streptococcus pneumoniae
Haemophilus influenzae
Moraxella catarrhalis
List the symptoms in common cold (coryza) in children
Sore throat
Sneezing
Blocked / runny nose
Headache
Cough
Malaise
Low-grade fever
List the physical examination findings in common cold (coryza) in children
Elevated temperature
Oropharynx
* Non-specific erythematous inflammation
* Purulent drainage in the posterior pharynx
* Pus on the tonsils - streptococcal infection
Nares
* Erythema and oedema
* Purulent drainage
Give the management in common cold (coryza) in children
Paracetamol
Give the differential for sore throat being the main symptom
Streptococcal pharyngitis / tonsillitis
Give the differential for illness started suddenly with fever, chills, and severe muscle aches
Influenza
Pneumonia
Give the differential for pleuritic pain, large amounts of sputum, blood in the sputum
Pleurisy
Pneumonia
Give the differential for otalgia
Otitis media
Give the differential for facial pain with respiratory symptoms
Sinusitis
What age range is acute GAS pharyngitis most common in
5~15 years
When in the year is acute GAS pharyngitis most frequent
Winter in temperate climates
Give the most common cause of sore throat (pharyngitis) in children
group A Streptococcus (S. pyogenes)
List the common causes of viral pharyngitis
Epstein-Barr virus (mononucleosis)
* Lymphadenopathy
* Splenomegaly
Adenoviruses
Enteroviruses
Influenza A and B
Parainfluenza
List the causes of sore throat (pharyngitis) in sexually active adolescents or sexually abused children
HIV
Chlamydia
Gonorrhoea
Give the presentation of diphtheria
Sore throat
Grey membrane in nose and throat that bleeds when dislodged
Give the pathognomonic feature of Measles
Koplik spots (bluish-white, raised lesions on an erythematous base on the buccal mucosa)
What may ingestion of undercooked meat from non-domestic animals present with
Tularaemia
* Ulcerations and exudates in pharynx
* Grey membrane
* Penicillin resistant
List the physical examination findings in GAS pharyngitis
Pharyngeal exudates
Painful anterior cervical adenopathy
Fever
Lack of cough or rhinorrhoea
Scarlet fever rash
List the presentations of viral pharyngitis
Rhinorrhoea
Nasal congestion
Cough
List the symptoms of GAS pharyngitis
Sore throat
Fever
Headache
Nausea and vomiting
Abdominal pain
List the investigations in GAS pharyngitis
GAS rapid antigen detection test
Throat culture - when rapid antigen tests are negative
List the management options for GAS pharyngitis
Oral phenoxymethylpenicillin 10 days
IM benzylpenicillin
Oral amoxicillin
List the penicillin allergy alternatives for GAS pharyngitis
Macrolide
Cephalosporin
Clindamycin
Why are children more likely to develop acute otitis media?
Acquire viral infections more often
Shorter and more horizontal eustachian tubes
List the complications for acute otitis media
Persistent otitis media with effusion.
Recurrence
Hearing loss (usually conductive and temporary).
Tympanic membrane perforation.
Labyrinthitis.
(Rare)
Mastoiditis
Meningitis, Intracranial abscess
Sinus thrombosis
Facial nerve paralysis
List the causative organisms for acute otitis media
Bacterial
Haemophilus influenzae
Streptococcus pneumoniae
Moraxella catarrhalis
Streptococcus pyogenes
Viral
Respiratory syncytial virus
Rhinovirus
Adenovirus
Influenza
Parainfluenza
List the symptoms in acute otitis media
Earache
Holding, tugging, or rubbing of the ear
Fever
Crying
Poor feeding
Restlessness
Behavioural changes
Cough
Rhinorrhoea
List the findings on otoscopic examination in acute otitis media
Distinctly red, yellow, or cloudy tympanic membrane
Bulging of the tympanic membrane
Loss of normal landmarks
Air-fluid level behind the tympanic membrane (middle ear effusion)
Perforation of the tympanic membrane and/or discharge in the external auditory canal
Give the first and second line antibiotics for acute otitis media
First: Amoxicillin 5-7 days
Second: Co-amoxiclav 5-7 days
List the penicillin allergy alternatives for acute otitis media
clarithromycin / erythromycin 5-7 days
Define Otitis media with effusion (glue ear)
Collection of fluid within the middle ear space without signs of acute infection
List the causes of otitis media with effusion (glue ear)
> 50% following an episode of acute otitis media
Impaired eustachian tube
Low-grade viral or bacterial infection
Persistent local inflammatory reaction
Adenoidal infection or hypertrophy
What co-morbidities may otitis media with effusion ‘glue ear’ be associated with?
Cleft palate (eustachian dysfunction) or other craniofacial malformation
Down’s syndrome (impaired immunity and mucosal abnormality)
Primary ciliary dyskinesia
Allergic rhinitis
List the presentations of Otitis media with effusion ‘glue ear’
Hearing loss
Mild intermittent ear pain with fullness/’popping’
Tinnitus
Aural discharge
Recurrent AOM infections, URTIs, nasal obstruction, rhinorrhoea
Paroxysmal sneezing/nasal itching
Snoring
List the otoscopic examination findings in Otitis media with effusion ‘glue ear’
Abnormal colour of the drum, eg. yellow, amber, or blue.
Loss of light reflex
Opacification of the drum
Air bubbles or an air/fluid level
A retracted, concave, or indrawn drum
What is a surgical management option for Otitis media with effusion ‘glue ear’?
Myringotomy and insertion of grommets (ventilation tubes)
List the causes in feverish children
Infections
* Meningococcal disease
* Herpes simplex encephalitis
* Pneumonia
* UTI
* Septic arthritis / osteomyelitis
Inflammatory/vasculitic disorders
* Systemic lupus erythematosus
* Kawasaki disease
* Rheumatic fever
* Juvenile idiopathic arthritis
* Sarcoidosis
Childhood malignancies
* Leukaemia
* Hodgkin’s lymphoma
* Non-Hodgkin’s lymphoma
Thyroid storm
Autonomic disorders - hereditary sensory autonomic neuropathy
Medication-hypersensitivity
* Salicylates
* Anticonvulsants
* Sulphonamides
* Beta-lactam antibiotics
* Anticholinergics
* Drugs of abuse
Medications with alterations of thermoregulation
* Thyroid hormones
* Antihistamines
Serotonin syndrome
List the presentations of herpes simplex encephalitis
Fever
Focal neurological signs.
Focal seizures.
Decreased level of consciousness.
List two most common causes of stridor in children
Viral laryngotracheobronchitis (croup)
Foreign body
Which age group of children does viral laryngotracheobronchitis (croup) typically occur in?
Between 6 months and 3 years
What time of the year does viral laryngotracheobronchitis (croup) usually peak?
Late autumn
Give the most common cause of viral laryngotracheobronchitis (croup)
Parainfluenza
List the common causes of viral laryngotracheobronchitis (croup) in children
Parainfluenza
Rhinovirus
Respiratory syncytial virus
Influenza
List the characteristic features in viral laryngotracheobronchitis (croup)
Sudden-onset seal-like barky cough
Voice hoarseness
Stridor
Respiratory distress
Intercostal or sternal indrawing
Prodromal, non-specific URT symptoms
* Cough
* Rhinorrhoea
* Coryza
* Fever
List the presentation in retropharyngeal / peritonsillar abscess
Dysphagia
Drooling
Stridor
Dyspnoea
Tachypnoea
Neck stiffness
Unilateral cervical adenopathy
List the presentation in angioneurotic oedema
Dyspnoea
Stridor
Swelling of face, tongue, or pharynx
List the differential diagnosis for viral laryngotracheobronchitis (croup)
Bacterial tracheitis
Epiglottitis
Foreign body in upper airway
Retropharyngeal/peritonsillar abscess
Angioneurotic oedema
Allergic reaction
List the presentation in bacterial tracheitis
Fever
Sudden onset stridor
Respiratory distress
List the presentation in foreign body in upper airway
Sudden onset dyspnoea and stridor
No prodrome of viral illness
No fever
Give the first line and alternative management in viral laryngotracheobronchitis (croup)
Oral dexamethasone (0.15 mg/kg)
Alternatives:
* Nebulised budesonide
* IM dexamethasone
Give the management option in moderate / severe croup
nebulised epinephrine
Give the most common causative organism for acute epiglottitis
Haemophilus influenzae
List the presentations in acute epiglottitis
Rapid onset of high fever
Sore throat
Dysphagia
Drooling
Breathing difficulty
Decreased oral intake
Difficulty in controlling secretions
List the causative organisms in acute epiglottitis
Haemophilus influenzae
Streptococcus pneumoniae
Staphylococcus aureus
MRSA
List the physical signs of acute epiglottitis
Appear toxic
Acute distress
Tripod position
Stridor
Give the investigation in acute epiglottitis
Laryngoscopy - confirm diagnosis and therapeutic
Give the lateral neck radiograph findings in acute epiglottitis
thumbprint sign
List the management options in acute epiglottitis
Empirical antibiotics
* Cefotaxime
* Vancomycin / clindamycin
Dexamethasone
Give the most common causative organism in bronchiolitis
Respiratory syncytial virus
List the causative organisms in bronchiolitis
Respiratory syncytial virus
Rhinovirus
Bocavirus
Adenovirus
Metapneumovirus
Parainfluenza
Influenza
Coronavirus
Enterovirus
List the presentations in bronchiolitis
Preceded by URT symptoms
* Rhinitis
* Cough
* Low-grade fever
Followed by LRT symptoms
* Retractions
* Wheezing
* Laboured breathing
Systemic signs
* Irritability
* Malaise
* Poor feeding
List the physical examination findings in bronchiolitis
Tachypnoea
Retractions
Wheezes
Crackles
Thoracoabdominal asynchrony
List the chest X ray signs in bronchiolitis
Hyperinflation
Interstitial inflammation
Atelectasis
List the causes of pneumonia in children
Viral - respiratory syncytial virus
Bacterial
Streptococcus pneumoniae
Group A stretococci
Staphylococcus aureus
Haemophilus influenzae
Mycoplasma pneumoniae
Chlamydia pneumoniae
List the presentations of pneumonia in children
Fever, cough, shortness of breath
Lethargy
Poor feeding
Pleural irritation - localised chest, abdominal, neck pain
List the physical examination findings of pneumonia in children
Tachypnoea
Localised dullness on percussion
Decreased breath sounds
Bronchial breathing
End-inspiratory coarse crackles
List the investigations for pneumonia in children
Chest x-ray
Pulse oximetry
Arterial blood gas
List the chest x-ray signs in pneumonia in children
Consolidation
Complicated pneumonia:
* Cavitation
* Pleural effusion
* Multifocal consolidation
Give the first line and alternative antibiotics for pneumonia in children
Oral amoxicillin 5 days
Co-amoxiclav, cefaclor, clarithromycin
Give the causative organism in Pertussis
Bordetella pertussis
List the presentations of pertussis
Prolonged cough illness
Inspiratory whoop
Post-tussive emesis
Apnoea or cyanosis in infants
List the presentations in the three stages of Pertussis
Stage 1: catarrhal stage
Symptoms - nonspecific URTI
Rhinorrhoea
Sneezing
Mild cough
Stage 2: paroxysmal stage
Coughing spells gradually become more severe during the first 1-2 weeks, plateau for 2-3 weeks, and then gradually decrease in frequency.
Paroxysms of coughing associated with
* inspiratory whoop
* post-tussive emesis
Stage 3: convalescent stage
Cough becomes less paroxysmal and slowly resolves, but recurrent cough may be triggered by new URTIs.
Give the typical duration of catarrhal stage in pertussis
1-2 weeks
Give the typical duration of paroxysmal stage in pertussis
1-6 weeks
Give the typical duration of convalescent stage in pertussis
2-3 weeks
Which stage of pertussis is the patient most infectious
Stage 1: catarrhal stage
List the investigations in pertussis
Nasopharyngeal aspirate culture / posterior nasopharynx swab
Nucleic acid amplification test
Serology
FBC
List the first and second line antibiotics for pertussis
Macrolides (first line)
* Azithromycin/Clarithromycin (preferred)
* Erythromycin
Trimethoprim/sulfamethoxazole (second line)
List the symptoms in asthma in children
Cough
Wheeze
Breathlessness
Chest tightness
Describe the characteristics of asthma symptom
Episodic
Diurnal
Triggered / exacerbated by exercise, infection, exposure to cold or allergens
List the risk factors for asthma in children
Personal or family history of atopic disease
* Asthma
* Eczema
* Allergic rhinitis
* Allergic conjunctivitis
Respiratory infections in infancy
Exposure to tobacco smoke (including prenatally)
Premature birth and associated low birth weight
Obesity
Social deprivation
Exposure to inhaled particulates
Exposure to flour dust, isocyanates from paint
List the complications from asthma in children
Respiratory complications
* Pneumonia
* Pneumothorax
* Pulmonary collapse (atelectasis caused by mucus plugging of the airways)
* Respiratory failure
* Status asthmaticus
Impaired quality of life
* Fatigue
* Underperformance and time off school or work
Death
List the investigations for asthma in children
Spirometry - FEV1/FVC < 70%
Bronchodilator reversibility - Improvement in FEV1 of 12% or more in response to beta-2 agonists or corticosteroids
Fractional exhaled nitric oxide (FeNO) testing - Confirm eosinophilic airway inflammation
Variable peak expiratory flow readings - >20% variability after monitoring at least twice daily for 2-4 weeks
List the presentations of Bronchiectasis in children
Chronic wet cough
Coarse crackles
Finger clubbing
List the causes of Bronchiectasis in children
Cystic fibrosis
Primary ciliary dyskinesia
Chronic aspiration
Immunodeficiency
Give the chest CT finding in Bronchiectasis
Bronchial dilatation
Give the pathophysiological mechanism in cystic fibrosis
CFTR7 gene mutation (Most frequently F508del)
Mutations in CFTR result in abnormal salt transport by epithelial cells - thick, sticky secretions.
List the clinical features of CF in newborn
Diagnosed through newborn screening
Meconium ileus
List the clinical features of CF in infants
Prolonged neonatal jaundice
Growth faltering
Recurrent chest infections
Malabsorption, steatorrhoea
List the clinical features of CF in young child
Bronchiectasis
Rectal prolapse
Nasal polyp
Sinusitis
List the clinical features of CF in older child and adolescent
Allergic bronchopulmonary aspergillosis
Pneumothorax / recurrent haemoptysis
Cirrhosis and portal hypertension
Diabetes mellitus (CF-related diabetes)
Distal intestinal obstruction (meconium ileus)
Male infertility (absence of vas deferens)
List the physical signs of cystic fibrosis in children
Malabsorption
* Lack of subcutaneous fat stores
* Protuberant abdomen
* Below normal weight-for-height / BMI
Nasal polyps
Increased anteroposterior diameter of the chest
Crackles at auscultation
Digital clubbing
In males, bilateral absence of the vas deferens
List the gold standard investigation for cystic fibrosis in children
Sweat test - sweat chloride >60 mmol/L
List the investigations for cystic fibrosis in children
Newborn blood spot screening
Sweat test (gold standard) - sweat chloride >60 mmol/L
Immunoreactive trypsinogen (IRT) test - positive
Genetic testing
List the management for cystic fibrosis in children
Airway clearance
SABA - salbutamol
Inhaled mucolytic: dornase alfa, hypertonic saline
Inhaled antibiotic in chronic infection with Pseudomonas aeruginosa - Tobramycin / aztreonam
Anti-inflammatory agent - Azithromycin / ibuprofen
Inhaled corticosteroid
CFTR modulator - Ivacaftor
Non-invasive ventilation oxygen
Pancreatic insufficiency
* Pancreatic enzyme replacement - Pancreatin
* Fat soluble vitamin supplementation ADEK
Live diseases - Ursodeoxycholic acid
Gastro-oesophageal reflux - Antacid, H2 antagonist, PPI
Give the inheritance in primary ciliary dyskinesia
Autosomal recessive
Give the presentations in primary ciliary dyskinesia
Recurrent infection of the upper and lower respiratory tracts
* Recurrent productive cough
* Purulent nasal discharge
* Chronic ear infections
Bronchiectasis
What is primary ciliary dyskinesia associated with?
Kartagener syndrome with dextrocardia and situs inversus (major organs are in the mirror position of normal)
Define hip dysplasia
a radiographic finding alone showing an imperfect degree of coverage of the femoral head by the acetabulum
Define hip subluxation
Partial articulation of the joint surfaces. Hip has a greater degree of laxity than normal with provocative testing, reflecting greater than normal movement of the femoral head within the acetabulum, but is not fully dislocated or dislocatable.
Define hip dislocation
the femoral head sits fully outside of the acetabulum, either at rest or with provocative testing.
Define fixed antenatal dislocation (teratological)
typically associated with multiple deformation, neurological conditions, or other syndromes (e.g., arthrogryposis), where more invasive intervention is usually required to attempt a reduction.
