Paediatrics

Question 1

List the four key developmental milestones and their features

Answer 1

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

Question 2

What should be enquired regarding development in older children?

Answer 2

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

Question 3

What should be enquired regarding development in adolescence?

Answer 3

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?

Question 4

List the signs of respiratory distress

Answer 4

Nasal flaring
Tracheal tug
Recession (retraction)
See-sawing
Grunting
Difficulty with feeds/speech

Question 5

List the 4S of innocent murmurs

Answer 5

aSymptomatic
Soft, blowing, murmur
Systolic only
Left Sternal edge

Question 6

Describe Gower’s sign and what does it indicate?

Answer 6

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

Question 7

Define developmental delay

Answer 7

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).

Question 8

Define developmental disorder

Answer 8

Developmental skills are both delayed and acquired in the incorrect order.d

Question 9

List the prenatal causes of abnormal development and learning disability

Answer 9

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

Question 10

Define learning/intellectual disability

Answer 10

School-aged children with significantly reduced ability to
* Understand new or complex information
* Learn new skills
* Cope independently with everyday life

Question 11

List the perinatal causes for abnormal development and learning disability

Answer 11

Intraventricular haemorrhage/periventricular leukomalacia
Hypoxic–ischaemic encephalopathy
Metabolic
* Symptomatic hypoglycaemia
* Hyperbilirubinaemia

Question 12

List the postnatal causes for abnormal development and learning disability

Answer 12

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

Question 13

List the signs of abnormal motor development

Answer 13

Abnormal gait, balance
Asymmetry of hand use
Involuntary movements

Question 14

List the causes of abnormal motor development

Answer 14

Cerebral palsy
Spina bifida
Neuropathy
Congenital myopathy
Global developmental delay, may be associated with a syndrome

Question 15

List the prenatal risk factors for cerebral palsy

Answer 15

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.

Question 16

List the perinatal factors for cerebral palsy

Answer 16

Preterm birth
Low birth weight.
Respiratory distress.
Birth asphyxia
Intraventricular haemorrhage.
Hyperbilirubinemia.
Neonatal sepsis
Neonatal encephalopathy.

Question 17

List the postnatal factors for cerebral palsy

Answer 17

Head injuries prior to 3 years (including child abuse).
Meningitis.

Question 18

List the four types of cerebral palsy

Answer 18

Spastic
Dyskinetic
* Chorea
* Athetosis
* Dystonia
Ataxic
Mixed

Question 19

List the motor features in cerebral palsy

Answer 19

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

Question 20

List the most common delayed motor milestones in children with cerebral palsy

Answer 20

Not sitting by 8 months
Not walking by 18 months
Early hand preference before 1 year

Question 21

List the three core features of autism spectrum disorders

Answer 21

Persistent impairments in social communication
Persistent impairments in social interaction
Restricted and repetitive patterns of behaviours, interests and activities including sensory sensitivities

Question 22

List the risk factors in autism spectrum disorders

Answer 22

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

Question 23

List the three core criteria for a learning disability diagnosis

Answer 23

Lower intellectual ability (IQ <70).
Significant impairment of social or adaptive functioning.
Onset in childhood.

Question 24

What does learning difficulty include

Answer 24

Dyslexia (reading)
Dyspraxia (affecting physical coordination)
Dyscalculia (difficulties in learning and comprehending numbers)
Dysgraphia (difficulties with writing skills)

Question 25

List the International Classification of Diseases 11th Revision (ICD-11) grading for learning disabilities

Answer 25

Mild — IQ 50 ~ 69 Moderate — IQ 35 ~ 49 Severe — IQ 20 ~ 34 Profound — IQ <20

Question 26

List the risk factors for learning disabilities

Answer 26

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

Question 27

Give the diagnostic criteria for ADHD

Answer 27

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.

Question 28

List the signs of inattention in ADHD

Answer 28

Wandering off task Lacking persistence Having difficulty sustaining focus Being disorganised

Question 29

List the adult and children signs of hyperactivity in ADHD

Answer 29

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.

Question 30

List the risk factors for ADHD

Answer 30

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

Question 31

List the psychiatric or neurodevelopmental comorbidities in ADHD

Answer 31

Oppositional defiant disorder (ODD) Conduct disorder Substance use disorder Mood disorders eg. depression, mania Autism spectrum disorder Dyslexia, dyscalculia, dyspraxia

Question 32

List the first line and alternative medications in ADHD for school-age children and young people

Answer 32

First line: Methylphenidate Alternatives: Lisdexamfetamine, dexamfetamine, and atomoxetine Melatonin (insomnia)

Question 33

List the first line and alternative medications in ADHD for adults with ADHD

Answer 33

First line: Lisdexamfetamine or methylphenidate Alternatives: Dexamfetamine or atomoxetine

Question 34

List the monitoring requirement for ADHD treatment

Answer 34

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

Question 35

Give the mechanism of methylphenidate

Answer 35

Norepinephrine and dopamine reuptake inhibitor

Question 36

List the adverse effects of methylphenidate

Answer 36

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

Question 37

List the adverse effects of amfetamine

Answer 37

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

Question 38

When should hearing be formally tested in a child?

Answer 38

Any child with * Delayed speech or language * Learning difficulties * Behavioural problems

Question 39

List the causes of sensorineural hearing loss

Answer 39

Genetics Antenatal and perinatal: * Congenital cytomegalovirus * Prematurity * Hyperbilirubinemia Postnatal: * Meningitis/encephalitis * Head injury * Drugs (aminoglycosides and furosemide) * Neurodegenerative disorders

Question 40

List the causes of conductive hearing loss

Answer 40

Chronic secretory otitis media Eustachian tube dysfunction * Down syndrome * Cleft palate * Pierre Robin sequence * Midfacial hypoplasia External auditory canal atresia Perforation of tympanic membrane

Question 41

List the presentations of visual impairment in children

Answer 41

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)

Question 42

What may be absent red reflex or white reflex (leukocoria) be due to

Answer 42

Cataract Corneal abnormalities Retinoblastoma

Question 43

List two types of strabismus in children

Answer 43

Concomitant (non-paralytic) - due to refractive error in one or both eyes. Paralytic - paralysis of the orbital muscle nerves (III, IV, VI)

Question 44

Describe the corneal light reflex test for strabismus

Answer 44

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

Question 45

Describe the cover test for strabismus

Answer 45

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

Question 46

List the causes of severe visual impairment in children

Answer 46

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

Question 47

List the clinical manifestations in Down syndrome

Answer 47

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

Question 48

List the three cytogenetic mechanisms in Down syndrome

Answer 48

Meiotic nondisjunction Robertsonian Translocation (The entire long arms of two different chromosomes become fused to each other, usually 14 and 21) Mosaicism

Question 49

List the clinical features of Edwards syndrome (trisomy 18)

Answer 49

Low birthweight Prominent occiput Small mouth and chin Short sternum Flexed, overlapping fingers ‘Rocker-bottom’ feet Cardiac and renal malformations

Question 50

List the clinical features of Patau syndrome (trisomy 13)

Answer 50

Structural defect of brain and scalp Small eyes (microphthalmia) and other eye defects Cleft lip and palate Polydactyly Cardiac and renal malformations

Question 51

List the pathognomonic features in Turner syndrome (45, X)

Answer 51

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

Question 52

List the comorbidities and complications in Turner syndrome (45, X)

Answer 52

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

Question 53

List the investigations and findings in Turner syndrome (45, X)

Answer 53

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

Question 54

List the management options for poor growth in Turner syndrome (45, X). When is the treatment initiated?

Answer 54

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

Question 55

List the adverse effects from recombinant human growth hormone (GH)

Answer 55

Intracranial pressure Slipped capital femoral epiphysis Scoliosis Pancreatitis

Question 56

List the management options for puberty delay in Turner syndrome (45, X). When is the treatment initiated?

Answer 56

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

Question 57

Give the ovarian hormone replacement therapy approach in Turner syndrome (45, X).

Answer 57

Oral / transdermal oestrogen therapy Combined with continuous / cyclic progestogen therapy * Prevent endometrial hyperplasia and cancer

Question 58

Why is oestrogen therapy initiated in Turner syndrome (45, X)?

Answer 58

reduce * osteoporosis * cardiovascular disease * urogenital atrophy improve quality of life

Question 59

List the clinical features in Klinefelter syndrome (47, XXY)

Answer 59

Infertility Hypogonadism, small testes Gynaecomastia in adolescence Tall stature Pubertal development may appear normal Intelligence usually normal, but some have educational and psychological problems

Question 60

Give the chromosomal deletion in Cri du Chat syndrome and list its clinical features

Answer 60

5p microdeletion High pitched cry in infancy Hypotonia Microcephaly Intellectual disability

Question 61

Give the chromosomal deletion in DiGeorge syndrome and list its clinical features

Answer 61

22q11.2 microdeletion Abnormal facies Cleft palate (posterior, may be submucosal) Cardiac anomalies Hypoplasia of thymus gland Immune dysfunction Intellectual disability Autism/ADHD

Question 62

Give the chromosomal deletion in Williams syndrome and list its clinical features

Answer 62

7q11 microdeletion including the elastin gene Characteristic facies Transient neonatal hypercalcaemia Supravalvular aortic stenosis Mild-to-moderate learning difficulties Short stature

Question 63

Give the chromosomal abnormality in Charcot–Marie–Tooth disease type 1A

Answer 63

Duplication of the PMP22 gene at 17p12

Question 64

List four trinucleotide repeat disorders

Answer 64

Fragile X syndrome Myotonic dystrophy Huntington disease Friedreich ataxia

Question 65

List 11 autosomal dominant disorders

Answer 65

Achondroplasia Familial hypercholesterolaemia (mostly) Huntington disease Marfan syndrome Myotonic dystrophy Neurofibromatosis Tuberous sclerosis Noonan syndrome Osteogenesis imperfecta Otosclerosis Polyposis coli

Question 66

List 12 autosomal recessive disorders

Answer 66

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)

Question 67

List 6 X-linked recessive disorders

Answer 67

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)

Question 68

Give the genetic abnormality in Fragile X syndrome

Answer 68

Trinucleotide repeat expansion in the gene FMR1 (Fragile X messenger ribonucleoprotein 1)

Question 69

List the clinical features in Fragile X syndrome

Answer 69

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

Question 70

Give the genetic abnormality in Prader–Willi syndrome

Answer 70

Loss of paternally expressed genes on chromosome 15q11-q13 (bands 11 to 13 on the long arm of chromosome 15)

Question 71

Give the genetic abnormality in Angelman syndrome

Answer 71

No maternal (but two paternal) copies of chromosome 15q11–13. Point mutation within the UBE3A gene

Question 72

List the clinical features in Prader–Willi syndrome

Answer 72

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

Question 73

List the physical features in Prader–Willi syndrome

Answer 73

Short stature Small hands and feet Hypopigmentation Ocular problems (e.g., strabismus, myopia) Spinal deformities Developmental dysplasia of the hip in neonates

Question 74

List the prenatal signs of Prader–Willi syndrome

Answer 74

Polyhydramnios Decreased foetal movements

Question 75

Define Stillbirth

Answer 75

infant born with no signs of life ≥24 weeks of pregnancy

Question 76

Define Preterm, Term, and Post-term

Answer 76

Preterm – gestation <37 weeks of pregnancy Term – 37–41 weeks of pregnancy Post-term – gestation ≥42 weeks of pregnancy

Question 77

Define low birthweight, very low birthweight, and extremely low birthweight

Answer 77

Low birthweight – <2500 g Very low birthweight – <1500 g Extremely low birthweight – <1000 g

Question 78

Define small for gestational age and large for gestational age

Answer 78

Small for gestational age – birthweight <10th centile for gestational age Large for gestational age – birthweight > 90 th centile for gestational age

Question 79

List the parameters for maternal blood screening

Answer 79

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)

Question 80

Describe the screening process in Down syndrome (trisomy 21), Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13)

Answer 80

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

Question 81

List the causes for oligohydramnios

Answer 81

Reduced foetal production (dysplastic / absent kidneys, obstructive uropathy) Preterm prelabour rupture of the membranes Severe intrauterine growth restriction

Question 82

List the causes for polyhydramnios

Answer 82

Maternal diabetes Structural gastrointestinal abnormalities, e.g. oesophageal alatresia

Question 83

List the main structural malformations detectable by ultrasound

Answer 83

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)

Question 84

Define Pre-eclampsia

Answer 84

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

Question 85

List three scenarios neonates may be born preterm

Answer 85

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%)

Question 86

List the main causes for preterm delivery

Answer 86

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

Question 87

List the investigations to predict premature labour

Answer 87

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

Question 88

List the management approaches in preterm delivery

Answer 88

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

Question 89

List the foetal problems in maternal diabetes

Answer 89

Congenital malformations * Cardiac malformations * Sacral agenesis (caudal regression syndrome) * Hypoplastic left colon IUGR Macrosomia

Question 90

List the complications of macrosomia

Answer 90

Cephalopelvic disproportion Birth asphyxia Shoulder dystocia Brachial plexus injury

Question 91

Give the pathophysiology of macrosomia in maternal diabetes

Answer 91

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

Question 92

List the neonatal problems in maternal diabetes

Answer 92

Hypoglycemia (foetal hyperinsulinism) Respiratory distress syndrome (delayed surfactant maturation) Hypertrophic cardiomyopathy Polycythaemia

Question 93

List the signs of foetal hyperthyroidism

Answer 93

Foetal tachycardia Foetal goitre on ultrasound

Question 94

List the signs of neonatal hyperthyroidism

Answer 94

Tachycardia Heart failure Vomiting, Diarrhoea Poor weight gain (despite good intake) Jitteriness Goitre Exophthalmos

Question 95

Give the effect of maternal SSRI use on the foetus

Answer 95

Persistent pulmonary hypertension of the newborn

Question 96

Give the effect of maternal radioactive iodine use on the foetus

Answer 96

Hypothyroidism

Question 97

Give the effect of maternal valproate/carbamazepine/hydantoin use on the foetus

Answer 97

Midfacial hypoplasia CNS, limb and cardiac malformations Developmental delay

Question 98

Give the effect of maternal lithium use on the foetus

Answer 98

Congenital heart disease

Question 99

Give the effect of maternal tetracycline use on the foetus

Answer 99

Enamel hypoplasia of the teeth Yellow-brown staining

Question 100

Give the effect of maternal thalidomide use on the foetus

Answer 100

Limb shortening (phocomelia)

Question 101

Give the effect of maternal Vitamin A and retinoids use on the foetus

Answer 101

Increased spontaneous abortions Abnormal facies

Question 102

Give the effect of maternal Warfarin use on the foetus

Answer 102

Interferes with cartilage formation (nasal hypoplasia and epiphyseal stippling) Ocular, skeletal abnormalities

Question 103

Give the classification of foetal alcohol spectrum disorder

Answer 103

Foetal alcohol syndrome (FAS) Partial FAS Alcohol-related neurodevelopmental disorder Alcohol-related birth defects FASD with and without sentinel facial features

Question 104

Give the presentation of foetal alcohol spectrum disorder

Answer 104

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

Question 105

List the facial dysmorphologies in FASD

Answer 105

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

Question 106

List the musculoskeletal anomalies in FASD

Answer 106

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

Question 107

List the renal anomalies in FASD

Answer 107

Aplastic, dysplastic, or hypoplastic kidneys Ureteral duplication Hydronephrosis Horseshoe kidneys

Question 108

List the ocular anomalies in FASD

Answer 108

Strabismus Retinal vascular anomalies Refractive problems

Question 109

List the ear anomalies in FASD

Answer 109

Conductive and/or sensorineural hearing loss Structural ear abnormalities (e.g., 'railroad-track' ear)

Question 110

List six common congenital infections

Answer 110

Rubella Cytomegalovirus (CMV) Toxoplasma gondii Parvovirus Varicella zoster Syphilis

Question 111

List the clinical features of congenital Rubella infections

Answer 111

CataRacts Congenital heart disease Deafness

Question 112

List the clinical features of congenital CMV infections

Answer 112

HepatosplenoMegaly Petechiae Neurodevelopmental disabilities * Sensorineural hearing loss * Cerebral palsy * Epilepsy * Cognitive impairment

Question 113

List the clinical features of congenital Toxoplasmosis infections

Answer 113

Retinopathy, acute fundal chorioretinitis Cerebral calcification Hydrocephalus

Question 114

List the clinical features of congenital parvovirus B19 infections

Answer 114

Foetal anaemia (aplastic anaemia), causing * foetal hydrops (oedema and ascites from heart failure) * intrauterine death

Question 115

List the clinical features of congenital Varicella zoster infections

Answer 115

(Foetal varicella syndrome) Severe scarring of the skin Ocular and neurological damage Digital dysplasia

Question 116

When is Apgar score measured?

Answer 116

at 1 minute and 5 minutes after delivery

Question 117

List the components in Apgar score

Answer 117

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

Question 118

What does the Newborn blood spot screening screen for?

Answer 118

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

Question 119

List the Potential medical problems in a preterm infant

Answer 119

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

Question 120

Give the pathophysiology of respiratory distress syndrome

Answer 120

Surfactant lowers surface tension Surfactant deficiency leads to widespread alveolar collapse and inadequate gas exchange.

Question 121

Where is surfactant excreted?

Answer 121

type II pneumocytes of the alveolar epithelium

Question 122

List the clinical signs in respiratory distress syndrome

Answer 122

Tachypnoea >60 breaths/minute Increased work of breathing - chest wall recession and nasal flaring Expiratory grunting Cyanosis

Question 123

Give the X ray sign in respiratory distress syndrome

Answer 123

Diffuse granular or ‘ground glass’ appearance of the lungs

Question 124

List the managements for respiratory distress syndrome

Answer 124

Antenatal glucocorticoids to stimulate foetal surfactant production Supplemental oxygen Non-invasive respiratory support * CPAP * High-flow nasal cannula therapy Surfactant therapy Mechanical ventilation

Question 125

Define Bronchopulmonary dysplasia

Answer 125

Infants who still have an oxygen requirement at a corrected gestational age of 36 weeks

Question 126

List the causes of Bronchopulmonary dysplasia

Answer 126

Delay in lung maturation Infection Oxygen toxicity Pressure and volume trauma from artificial ventilation

Question 127

List the X ray signs of bronchopulmonary dysplasia

Answer 127

Widespread areas of opacification Cystic changes Fibrosis, lung collapse

Question 128

Give the management in bronchopulmonary dysplasia

Answer 128

Corticosteroid therapy

Question 129

List the complications of hypothermia in a preterm infant

Answer 129

Hypoxia Hypoglycemia Failure to gain weight

Question 130

Why are preterm infants particularly vulnerable to hypothermia

Answer 130

Large surface area relative to mass Skin is thin and heat permeable Little subcutaneous fat for insulation Nursed naked

Question 131

List four ways of preventing heat loss in newborn infants

Answer 131

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

Question 132

Define Necrotizing enterocolitis

Answer 132

Ischaemic injury and bacterial invasion of the bowel wall and altered gut microbiome

Question 133

Give one risk factor for Necrotizing enterocolitis

Answer 133

Intrauterine growth restriction

Question 134

List the early signs of necrotising enterocolitis

Answer 134

Feed intolerance Vomiting, maybe bile stained Distended abdomen Fresh blood in stool Shock, requiring mechanical ventilation May progress to bowel perforation

Question 135

List the X ray signs of necrotising enterocolitis

Answer 135

Distended loops of bowel Thickening of the bowel wall with intramural gas Gas in portal venous tract Air under diaphragm from bowel perforation

Question 136

List the management for necrotising enterocolitis

Answer 136

Stop oral feeding Broad-spectrum antibiotics

Question 137

List the complications for necrotising enterocolitis

Answer 137

Bowel strictures Malabsorption if extensive bowel resection Poor neurodevelopmental outcomes

Question 138

List the reasons of physiological jaundice

Answer 138

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

Question 139

Give the inheritance of Crigler-Najjar syndrome

Answer 139

autosomal recessive

Question 139

List the causes of neonatal jaundice within 24 hours

Answer 139

Rh (rhesus) incompatibility ABO incompatibility G6PD deficiency Spherocytosis, pyruvate kinase deficiency Congenital infection (Parvovirus B19)

Question 140

List the causes of neonatal jaundice between 24 hours to 2 weeks of age

Answer 140

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)

Question 141

List the causes of jaundice more than 2 weeks of age

Answer 141

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

Question 142

Define kernicterus

Answer 142

encephalopathy from the deposition of unconjugated bilirubin in the basal ganglia and brainstem nuclei.

Question 143

List the acute manifestations of kernicterus

Answer 143

Lethargy Poor feeding

Question 144

List the severe signs of kernicterus

Answer 144

Irritability Opisthotonos Seizures Coma

Question 145

List the long term complications of kernicterus

Answer 145

Choreoathetoid cerebral palsy (damage to basal ganglia) Learning difficulties Sensorineural hearing loss

Question 146

List the classification of Vitamin K Deficiency Bleeding

Answer 146

Early VKDB <24 hours of birth Classic VKDB 1~7 days Late VKDB week 2~12

Question 147

List the risk factors for Vitamin K Deficiency Bleeding

Answer 147

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

Question 148

List the symptoms in early VKDB

Answer 148

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

Question 149

List the symptoms of classic VKDB

Answer 149

Gastrointestinal bleeding Bleeding from the skin and mucous membranes Prolonged bleeding following circumcision. Bleeding from the umbilical stump

Question 150

List the symptoms of late VKDB

Answer 150

Typically intracranial haemorrhage

Question 151

Give the management in VKDB

Answer 151

Subcutaneous vitamin K supplement Fresh frozen plasma in severe bleeding / intracranial haemorrhage

Question 152

List the causes of respiratory distress in term infants

Answer 152

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

Question 153

List the causes for Persistent pulmonary hypertension of the newborn

Answer 153

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

Question 154

List the maternal risk factors for Persistent pulmonary hypertension of the newborn

Answer 154

Obesity Diabetes Pre-eclampsia Chorioamnionitis Smoking SSRI and NSAID use

Question 155

List the managements for Persistent pulmonary hypertension of the newborn

Answer 155

Mechanical ventilation Inhaled nitric oxide Sildenafil

Question 156

List the clinical features of neonatal meningitis

Answer 156

Tense / bulging fontanelle Opisthotonos

Question 157

List the clinical features of neonatal sepsis

Answer 157

Respiratory distress Fever, temperature instability, hypothermia Poor feeding Vomiting Apnoea and bradycardia Abdominal distension Jaundice Neutropenia Hypoglycaemia/hyperglycaemia Shock Irritability Seizures Lethargy, drowsiness

Question 157

List the risk factors for Group B streptococcal (S. agalactiae) infection

Answer 157

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

Question 158

How may L. monocytogenes be transmitted to the mother?

Answer 158

Unpasteurised milk Soft cheese Undercooked poultry

Question 159

List the complications of maternal L. monocytogenes infection

Answer 159

Spontaneous abortion Preterm delivery Foetal/neonatal sepsis

Question 160

List the characteristic features for L. monocytogenes infection

Answer 160

Meconium staining of the amniotic liquor in preterm infants Widespread rash Septicaemia Pneumonia Meningitis

Question 161

List the causes for HIE

Answer 161

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

Question 162

List the clinical features and grading in HIE

Answer 162

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

Question 163

When may brachial nerve palsy occur in?

Answer 163

Breech deliveries Shoulder dystocia

Question 164

Which nerve roots are injured in Erb palsy?

Answer 164

C5/6

Question 165

Give the clinical sign in Erb palsy

Answer 165

'waiter's tip hand'. The arm hangs limply from the shoulder with internal rotation of the forearm plus wrist and finger flexion.

Question 166

Give the clinical sign in phrenic nerve palsy

Answer 166

Elevated diaphragm

Question 167

List the causes of neonatal seizures

Answer 167

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

Question 168

List the investigations in neonatal seizures

Answer 168

Continuous single-channel EEG (amplitude-integrated EEG) Cerebral ultrasound - identify haemorrhage / cerebral anomaly MRI - cerebral ischaemic lesions

Question 169

Where does the Neonatal arterial ischaemic stroke most often affect?

Answer 169

MCA

Question 170

List the complications of Pierre Robin sequence

Answer 170

Difficulty feeding Cyanotic episodes (obstruction of the upper airways as the tongue falls back) Growth faltering

Question 171

Give the presentation of perinatal stroke

Answer 171

Seizures at 12~48 hours

Question 172

What is oesophageal atresia associated with?

Answer 172

89% atresia with tracheo-oesophageal fistula 10% atresia without fistula <1% H-type fistula without atresia

Question 173

List the pre-natal signs of oesophageal atresia

Answer 173

Polyhydramnios during pregnancy Absent stomach bubble on antenatal ultrasound screening

Question 174

List the presentation of oesophageal atresia

Answer 174

Persistent salivation and drooling from the mouth Cough and choke when fed Cyanotic episodes Aspiration

Question 175

List the complications of oesophageal atresia

Answer 175

gastro-oesophageal reflux chronic cough esophageal dilation

Question 176

List the clinical features in small bowel obstruction

Answer 176

Persistent vomiting - Bile stained unless obstruction is above the ampulla of Vater Abdominal distention

Question 177

List the causes for small bowel obstruction

Answer 177

Duodenal atresia / stenosis * ⅓ have Down syndrome Atresia / stenosis of the jejunum or ileum Malrotation with volvulus Meconium ileus (cystic fibrosis)

Question 178

List the causes for large bowel obstruction

Answer 178

Meconium plug Hirschsprung disease Anorectal malformation

Question 179

List the items in VACTERL

Answer 179

Vertebral Anorectal Cardiac Tracheo-oesophageal Renal Radial limb anomalies

Question 180

List the surgical causes of acute abdominal pain

Answer 180

Acute appendicitis Intussusception Malrotation and volvulus Peritonitis Inflamed Meckel diverticulum Inguinal hernia Trauma

Question 181

List the medical causes of acute abdominal pain

Answer 181

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

Question 182

List the extra-abdominal causes of acute abdominal pain

Answer 182

URTI Lower lobe pneumonia Torsion of the testis Hip and spine

Question 183

List the clinical features in acute appendicitis

Answer 183

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)

Question 184

Give the aetiology of intussusception

Answer 184

hyperplasia of Peyer’s patches and lymphoid tissue act as the lead point

Question 185

Give the most common anatomical location of intussusception

Answer 185

ileocaecal valve

Question 186

What age does intussusception most commonly occur

Answer 186

Most commonly occurs in infants aged 3-12 months, with a peak at the age of approximately 9 months.

Question 187

List the causes of Intussusception in older children and adults

Answer 187

(Pathological lead point) Luminal polyps Malignant tumours Benign mass lesions * Lipomata * Meckel’s diverticulum * Henoch-Schonlein purpura * Enteric duplication cysts Rotavirus vaccine

Question 188

Give the pathophysiology of intussusception

Answer 188

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

Question 189

List the presentations in intussusception

Answer 189

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

Question 190

List the ultrasound signs in intussusception

Answer 190

3 to 5 cm mass deep to the right-sided abdominal wall Doughnut sign

Question 191

List the Plain-film abdominal x-ray signs in intussusception

Answer 191

Soft tissue mass Empty right lower quadrant Air in dislocated appendix Signs of small-bowel obstruction

Question 192

List the management in intussusception

Answer 192

Fluid resuscitation Antibiotics Contrast enema reduction

Question 193

List the contraindications for contrast enema reduction in intussusception

Answer 193

Peritonitis Perforation Toxic colitis Hypovolemic shock Prolonged symptoms Intestinal ischaemia / trapped fluid Bowel obstruction

Question 194

List the rule of 2s in Meckel diverticulum

Answer 194

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

Question 195

Give the embryology of Meckel diverticulum

Answer 195

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.

Question 196

List the presentations of Meckel diverticulum

Answer 196

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

Question 197

List the investigations for Meckel diverticulum presenting with bleeding

Answer 197

FBC Technetium-99m pertechnetate scan (Meckel’s scan) Mesenteric angiography Surgical abdominal exploration

Question 198

List the investigations for Meckel diverticulum presenting with obstruction

Answer 198

CT scan Ultrasound Contrast enema if intussusception Urgent abdominal exploration if intestinal ischaemia / perforation

Question 199

List the investigations for Meckel diverticulum presenting with inflammation

Answer 199

CT scan

Question 200

Give the aetiology of Intestinal malrotation

Answer 200

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.

Question 201

What may Intestinal malrotation present with Obstruction with ischaemia

Answer 201

Acutely ill with severe abdominal pain Sudden onset bilious vomiting Tachycardia, Tachypnoea Abdominal tenderness Acidosis Signs of peritoneal catastrophe (rebound and guarding)

Question 202

What may Intestinal malrotation present with Obstruction without ischaemia

Answer 202

Bilious vomiting Crampy abdominal pain in waves Non-tender abdomen Non-distended abdomen No severe physiological perturbation

Question 203

What may Intestinal malrotation present with Intermittent or partial volvulus or obstructing Ladd's bands

Answer 203

Intermittent vomiting Intermittent abdominal pain (typically post-prandial) Weight loss No signs of acute illness

Question 204

List the investigations for intestinal malrotation

Answer 204

Upper GI contrast series CT abdomen with contrast Abdominal plain x-rays FBC

Question 205

Describe the Ladd's procedure

Answer 205

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.

Question 206

List the causes of recurrent abdominal pain

Answer 206

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

Question 207

List the red flag symptoms of recurrent abdominal pain suggesting organic disease

Answer 207

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

Question 208

List the screening tests in recurrent abdominal pain to identify organic disorders

Answer 208

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

Question 209

List the entities of Functional abdominal pain disorders

Answer 209

Irritable bowel syndrome Abdominal migraine Functional dyspepsia Functional abdominal pain

Question 210

List the contributing factors in Functional abdominal pain disorders

Answer 210

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

Question 211

List the presentation of Irritable bowel syndrome

Answer 211

Periumbilical pain related to * Defecation * Alteration in stool frequency * Change in appearing of stool (diarrhoea / constipation)

Question 212

Give the management in Irritable bowel syndrome

Answer 212

low FODMAP diets – Fermentable Oligo-saccharides, Di-saccharides, Mono-saccharides And Polyols

Question 213

List the presentations in Abdominal migraine

Answer 213

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

Question 214

List the presentations of Functional dyspepsia

Answer 214

Postprandial fullness or early satiety Abdominal bloating Nausea, excessive belching Severe pain, burning in epigastric area Pain not relieved by defecation

Question 215

Give the management in functional dyspepsia

Answer 215

Histamine receptor antagonists Proton pump inhibitors

Question 216

List the causes of vomiting in infants

Answer 216

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

Question 217

List the causes of vomiting in preschool children

Answer 217

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

Question 218

List the causes of vomiting in school age and adolescents

Answer 218

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

Question 219

List the causes for bile-stained vomit

Answer 219

Intestinal obstruction

Question 220

List the causes for Haematemesis in children

Answer 220

Oral/nasal bleeding Oesophagitis Oesophageal variceal bleeding Peptic ulceration

Question 221

Give the cause of Projectile vomiting

Answer 221

Pyloric stenosis

Question 222

List the cause of Vomiting at the end of paroxysmal coughing

Answer 222

Whooping cough (pertussis)

Question 223

List the causes of vomiting with hepatosplenomegaly

Answer 223

Chronic liver disease Inborn error of metabolism

Question 224

List the causes of vomiting with abdominal distension

Answer 224

Intestinal obstruction Ascites

Question 225

List the causes of vomiting with blood in the stool

Answer 225

Intussusception Bacterial gastroenteritis Inflammatory bowel disease

Question 226

List the causes of vomiting with severe dehydration/shock

Answer 226

Severe gastroenteritis Systemic infection (urinary tract infection, meningitis) Diabetic ketoacidosis

Question 227

List the causes of vomiting with bulging fontanelle / seizures

Answer 227

Raised intracranial pressure Meningitis

Question 228

List the causes of vomiting with Faltering growth

Answer 228

Gastro-oesophageal reflux disease Coeliac disease Chronic gastrointestinal conditions

Question 229

List the complications of Gastro-oesophageal reflux disease in children

Answer 229

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

Question 230

What is Gastro-oesophageal reflux disease commonly associated with

Answer 230

Cerebral palsy / other neurodevelopmental disorders Preterm infants Following surgery for esophageal atresia or diaphragmatic hernia Obesity Hiatus hernia

Question 231

List the clinical features of pyloric stenosis

Answer 231

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

Question 232

List the managements in pyloric stenosis

Answer 232

Correct acid-base electrolyte balance IV fluid rehydration Polymyotomy

Question 233

List the presentations in Eosinophilic oesophagitis

Answer 233

Bolus dysphagia (‘food getting stuck’) Discomfort on swallowing Heartburn, Regurgitation Vomiting Abdominal pain

Question 234

What is Eosinophilic oesophagitis associated with

Answer 234

Other atopic conditions: Asthma Atopic dermatitis Allergic rhinitis/sinusitis Food allergies

Question 235

Describe the pathophysiology of eosinophilic oesophagitis

Answer 235

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

Question 236

Give the investigation in eosinophilic oesophagitis

Answer 236

Oesophagogastroduodenoscopy with biopsy

Question 237

List the macroscopic and microscopic signs of eosinophilic oesophagitis

Answer 237

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

Question 238

List the management in eosinophilic oesophagitis

Answer 238

Swallowed corticosteroids * Fluticasone * Budesonide

Question 239

List the causes of gastroenteritis in children

Answer 239

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

Question 240

List the classification of dehydration

Answer 240

No clinically detectable dehydration (<5% loss of body weight) Clinical dehydration (5%–10% loss of body weight) Shock (>10% loss of body weight)

Question 241

Give the clinical management of dehydration

Answer 241

Oral rehydration therapy - sodium and glucose (Increase active sodium and passive water absorption) IV fluids

Question 242

Who may be at increased risk of dehydration from gastroenteritis

Answer 242

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

Question 243

Define postgastroenteritis syndrome

Answer 243

Following an episode of gastroenteritis, the introduction of a normal diet results in a return of watery diarrhoea.

Question 244

List the presentations of malabsorption

Answer 244

Abnormal stools Poor weight gain / faltering growth Specific nutrient deficiencies

Question 245

List the causes of malabsorption in children

Answer 245

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)

Question 246

List the symptoms and signs of coeliac disease

Answer 246

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

Question 247

List the investigations for coeliac disease

Answer 247

IgA anti-tTG IgA EMA Duodenal biopsy

Question 248

List the signs of coeliac disease on duodenal biopsy

Answer 248

Villous blunting Crypt hyperplasia Intraepithelial lymphocytosis

Question 249

List the secondary causes of lactase deficiency

Answer 249

(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

Question 250

List the classifications of lactase deficiency

Answer 250

Primary Secondary Congenital hypolactasia Developmental hypolactasia

Question 251

Give the inheritance of Congenital hypolactasia

Answer 251

autosomal recessive

Question 252

List the GI symptoms for lactase deficiency

Answer 252

Abdominal pain (cramping in periumbilical area) Bloating Borborygmi (‘tummy rumbling’) Flatulence Diarrhoea (explosive, bulky, frothy, watery) Constipation Nausea and vomiting

Question 253

List the systemic symptoms of lactase deficiency

Answer 253

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

Question 254

List the additional symptoms in secondary lactase deficiency cause by HIV enteropathy

Answer 254

Skin rashes Kaposi sarcoma

Question 255

List the additional symptoms in secondary lactase deficiency cause by eosinophilic enteritis

Answer 255

Anaemia Weight loss

Question 256

List the additional symptoms in secondary lactase deficiency cause by coeliac disease

Answer 256

Short stature Anaemia Weight loss

Question 257

List the additional symptoms in secondary lactase deficiency cause by tropical sprue

Answer 257

Steatorrhoea History of residence in endemic areas

Question 258

List the additional symptoms in secondary lactase deficiency cause by Whipple's disease

Answer 258

Joint pain Arthritis

Question 259

List the additional symptoms in secondary lactase deficiency cause by gastroenteritis

Answer 259

Fever

Question 260

List the additional symptoms in secondary lactase deficiency cause by carcinoid syndrome

Answer 260

Flushing and palpitations

Question 261

List the additional symptoms in secondary lactase deficiency cause by Zollinger-Ellison syndrome

Answer 261

Steatorrhoea Peptic ulcer disease Gastro-oesophageal reflux disorder

Question 262

List the investigation and findings in lactase deficiency

Answer 262

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

Question 263

List the management for primary lactase deficiency

Answer 263

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

Question 264

List the presentations for Crohn disease in children and young people

Answer 264

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

Question 265

List the histology findings in Crohn's disease

Answer 265

Mucosal inflammation Crypt damage (cryptitis, architectural distortion, abscesses and crypt loss) Ulceration

Question 266

Define constipation

Answer 266

Presence of two or more of the clinical features: * Fewer than three complete stools per week * Hard, large stool * ‘rabbit dropping’ stool * Overflow soiling

Question 267

List the Contributing factors to constipation

Answer 267

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

Question 268

What may constipation, abdominal distension with vomiting suggest

Answer 268

Hirschsprung disease Intestinal obstruction

Question 269

What may constipation with Ribbon stool pattern suggest

Answer 269

Anal stenosis

Question 270

What may constipation with abnormal lower limb neurology / deformity suggest

Answer 270

neurological or spinal cord abnormality Spina bifida occulta

Question 271

What may constipation with perianal fistulae, abscesses, or fissures suggest

Answer 271

Perianal Crohn disease

Question 272

What may constipation with faltering growth suggest

Answer 272

Hypothyroidism Coeliac disease

Question 273

List the management for constipation

Answer 273

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

Question 274

List the classification of laxatives

Answer 274

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

Question 275

List the contraindications for laxatives

Answer 275

Intestinal obstruction or perforation Paralytic ileus Toxic megacolon Inflammatory bowel disease Galactosaemia (lactulose only)

Question 276

List the classification of Hirschsprung's disease

Answer 276

Typical (rectosigmoid) Long-segment - extend to any level between the hepatic flexure and the descending colon Total colonic aganglionosis Ultrashort aganglionosis or short-segment

Question 277

List the pathological features in Hirschsprung's disease

Answer 277

Aganglionosis Hypertrophied nerves Increase in the enzyme acetylcholinesterase

Question 278

Give the pathophysiology of Hirschsprung's disease

Answer 278

Due to aganglionosis, the lumen is tonically contracted, causing a functional obstruction.

Question 279

List the presentation in Hirschsprung's disease

Answer 279

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)

Question 280

Give the first line investigation for Hirschsprung's disease

Answer 280

Contrast enema

Question 281

Give the gold standard investigation for Hirschsprung's disease

Answer 281

Rectal biopsy and histology

Question 282

Give one plain abdominal x-ray sign of Hirschsprung's disease

Answer 282

Dilated colon

Question 283

Define stridor

Answer 283

Louder, constant-pitch sound over central airways

Question 284

Define wheezing

Answer 284

Musical sound produced primarily during expiration

Question 285

List the causes of an inspiratory stridor

Answer 285

(Supraglottic causes) Extraluminal compression * Goitre * Retropharyngeal abscess Intraluminal compression * Malignancy * Foreign body Inflammatory * Anaphylaxis * Angioedema * Epiglottitis

Question 286

List the causes of a biphasic stridor

Answer 286

(Glottic/Subglottic) Function * Vocal fold paralysis * Paradoxical vocal fold motion Extraluminal compression * Malignancy * Vascular ring, aneurysm Foreign body Endotracheal intubation

Question 287

List the causes of an expiratory stridor

Answer 287

(Tracheal) Extraluminal compression * Malignancy * Mediastinal mass * Vascular ring, aneurysm Foreign body Iatrogenic * Endotracheal intubation * Tracheostomy Structural * Tracheomalacia * Connective tissue disorder * GORD Granulomatosis with polyangiitis

Question 288

List the causes of wheeze

Answer 288

Bronchoconstriction * Asthma * COPD * Anaphylaxis * Carcinoid Peribronchial pulmonary oedema Infectious * Bronchitis * Bronchiolitis * Parasite Focal * Mass * Foreign body * Consolidation

Question 289

List the signs of impending respiratory failure

Answer 289

Cyanosis persistent grunting Reduced oxygen saturation despite oxygen therapy Rising pCO2 on blood gas Exhaustion, confusion, reduced conscious level

Question 290

List the causes of chronic / recurrent cough

Answer 290

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

Question 291

Give the most common cause of common cold (coryza) in children

Answer 291

Rhinoviruses

Question 292

List the causative organisms for common cold (coryza) in children

Answer 292

Viral Rhinoviruses (majority) Coronavirus Influenza Parainfluenza Respiratory syncytial virus Metapneumovirus Bacterial Streptococcus pneumoniae Haemophilus influenzae Moraxella catarrhalis

Question 293

List the symptoms in common cold (coryza) in children

Answer 293

Sore throat Sneezing Blocked / runny nose Headache Cough Malaise Low-grade fever

Question 294

List the physical examination findings in common cold (coryza) in children

Answer 294

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

Question 295

Give the management in common cold (coryza) in children

Answer 295

Paracetamol

Question 296

Give the differential for sore throat being the main symptom

Answer 296

Streptococcal pharyngitis / tonsillitis

Question 297

Give the differential for illness started suddenly with fever, chills, and severe muscle aches

Answer 297

Influenza Pneumonia

Question 298

Give the differential for pleuritic pain, large amounts of sputum, blood in the sputum

Answer 298

Pleurisy Pneumonia

Question 299

Give the differential for otalgia

Answer 299

Otitis media

Question 300

Give the differential for facial pain with respiratory symptoms

Answer 300

Sinusitis

Question 301

What age range is acute GAS pharyngitis most common in

Answer 301

5~15 years

Question 302

When in the year is acute GAS pharyngitis most frequent

Answer 302

Winter in temperate climates

Question 303

Give the most common cause of sore throat (pharyngitis) in children

Answer 303

group A Streptococcus (S. pyogenes)

Question 304

List the common causes of viral pharyngitis

Answer 304

Epstein-Barr virus (mononucleosis) * Lymphadenopathy * Splenomegaly Adenoviruses Enteroviruses Influenza A and B Parainfluenza

Question 305

List the causes of sore throat (pharyngitis) in sexually active adolescents or sexually abused children

Answer 305

HIV Chlamydia Gonorrhoea

Question 306

Give the presentation of diphtheria

Answer 306

Sore throat Grey membrane in nose and throat that bleeds when dislodged

Question 307

Give the pathognomonic feature of Measles

Answer 307

Koplik spots (bluish-white, raised lesions on an erythematous base on the buccal mucosa)

Question 308

What may ingestion of undercooked meat from non-domestic animals present with

Answer 308

Tularaemia * Ulcerations and exudates in pharynx * Grey membrane * Penicillin resistant

Question 309

List the physical examination findings in GAS pharyngitis

Answer 309

Pharyngeal exudates Painful anterior cervical adenopathy Fever Lack of cough or rhinorrhoea Scarlet fever rash

Question 310

List the presentations of viral pharyngitis

Answer 310

Rhinorrhoea Nasal congestion Cough

Question 311

List the symptoms of GAS pharyngitis

Answer 311

Sore throat Fever Headache Nausea and vomiting Abdominal pain

Question 312

List the investigations in GAS pharyngitis

Answer 312

GAS rapid antigen detection test Throat culture - when rapid antigen tests are negative

Question 313

List the management options for GAS pharyngitis

Answer 313

Oral phenoxymethylpenicillin 10 days IM benzylpenicillin Oral amoxicillin

Question 314

List the penicillin allergy alternatives for GAS pharyngitis

Answer 314

Macrolide Cephalosporin Clindamycin

Question 315

Why are children more likely to develop acute otitis media?

Answer 315

Acquire viral infections more often Shorter and more horizontal eustachian tubes

Question 316

List the complications for acute otitis media

Answer 316

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

Question 317

List the causative organisms for acute otitis media

Answer 317

Bacterial Haemophilus influenzae Streptococcus pneumoniae Moraxella catarrhalis Streptococcus pyogenes Viral Respiratory syncytial virus Rhinovirus Adenovirus Influenza Parainfluenza

Question 318

List the symptoms in acute otitis media

Answer 318

Earache Holding, tugging, or rubbing of the ear Fever Crying Poor feeding Restlessness Behavioural changes Cough Rhinorrhoea

Question 319

List the findings on otoscopic examination in acute otitis media

Answer 319

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

Question 320

Give the first and second line antibiotics for acute otitis media

Answer 320

First: Amoxicillin 5-7 days Second: Co-amoxiclav 5-7 days

Question 321

List the penicillin allergy alternatives for acute otitis media

Answer 321

clarithromycin / erythromycin 5-7 days

Question 322

Define Otitis media with effusion (glue ear)

Answer 322

Collection of fluid within the middle ear space without signs of acute infection

Question 323

List the causes of otitis media with effusion (glue ear)

Answer 323

>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

Question 324

What co-morbidities may otitis media with effusion ‘glue ear’ be associated with?

Answer 324

Cleft palate (eustachian dysfunction) or other craniofacial malformation Down’s syndrome (impaired immunity and mucosal abnormality) Primary ciliary dyskinesia Allergic rhinitis

Question 325

List the presentations of Otitis media with effusion ‘glue ear’

Answer 325

Hearing loss Mild intermittent ear pain with fullness/'popping' Tinnitus Aural discharge Recurrent AOM infections, URTIs, nasal obstruction, rhinorrhoea Paroxysmal sneezing/nasal itching Snoring

Question 326

List the otoscopic examination findings in Otitis media with effusion ‘glue ear’

Answer 326

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

Question 327

What is a surgical management option for Otitis media with effusion ‘glue ear’?

Answer 327

Myringotomy and insertion of grommets (ventilation tubes)

Question 328

List the causes in feverish children

Answer 328

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

Question 329

List the presentations of herpes simplex encephalitis

Answer 329

Fever Focal neurological signs. Focal seizures. Decreased level of consciousness.

Question 330

List two most common causes of stridor in children

Answer 330

Viral laryngotracheobronchitis (croup) Foreign body

Question 331

Which age group of children does viral laryngotracheobronchitis (croup) typically occur in?

Answer 331

Between 6 months and 3 years

Question 332

What time of the year does viral laryngotracheobronchitis (croup) usually peak?

Answer 332

Late autumn

Question 333

Give the most common cause of viral laryngotracheobronchitis (croup)

Answer 333

Parainfluenza

Question 334

List the common causes of viral laryngotracheobronchitis (croup) in children

Answer 334

Parainfluenza Rhinovirus Respiratory syncytial virus Influenza

Question 335

List the characteristic features in viral laryngotracheobronchitis (croup)

Answer 335

Sudden-onset seal-like barky cough Voice hoarseness Stridor Respiratory distress Intercostal or sternal indrawing Prodromal, non-specific URT symptoms * Cough * Rhinorrhoea * Coryza * Fever

Question 336

List the presentation in retropharyngeal / peritonsillar abscess

Answer 336

Dysphagia Drooling Stridor Dyspnoea Tachypnoea Neck stiffness Unilateral cervical adenopathy

Question 337

List the presentation in angioneurotic oedema

Answer 337

Dyspnoea Stridor Swelling of face, tongue, or pharynx

Question 338

List the differential diagnosis for viral laryngotracheobronchitis (croup)

Answer 338

Bacterial tracheitis Epiglottitis Foreign body in upper airway Retropharyngeal/peritonsillar abscess Angioneurotic oedema Allergic reaction

Question 339

List the presentation in bacterial tracheitis

Answer 339

Fever Sudden onset stridor Respiratory distress

Question 340

List the presentation in foreign body in upper airway

Answer 340

Sudden onset dyspnoea and stridor No prodrome of viral illness No fever

Question 341

Give the first line and alternative management in viral laryngotracheobronchitis (croup)

Answer 341

Oral dexamethasone (0.15 mg/kg) Alternatives: * Nebulised budesonide * IM dexamethasone

Question 342

Give the management option in moderate / severe croup

Answer 342

nebulised epinephrine

Question 343

Give the most common causative organism for acute epiglottitis

Answer 343

Haemophilus influenzae

Question 344

List the presentations in acute epiglottitis

Answer 344

Rapid onset of high fever Sore throat Dysphagia Drooling Breathing difficulty Decreased oral intake Difficulty in controlling secretions

Question 344

List the causative organisms in acute epiglottitis

Answer 344

Haemophilus influenzae Streptococcus pneumoniae Staphylococcus aureus MRSA

Question 345

List the physical signs of acute epiglottitis

Answer 345

Appear toxic Acute distress Tripod position Stridor

Question 346

Give the investigation in acute epiglottitis

Answer 346

Laryngoscopy - confirm diagnosis and therapeutic

Question 346

Give the lateral neck radiograph findings in acute epiglottitis

Answer 346

thumbprint sign

Question 347

List the management options in acute epiglottitis

Answer 347

Empirical antibiotics * Cefotaxime * Vancomycin / clindamycin Dexamethasone

Question 348

Give the most common causative organism in bronchiolitis

Answer 348

Respiratory syncytial virus

Question 349

List the causative organisms in bronchiolitis

Answer 349

Respiratory syncytial virus Rhinovirus Bocavirus Adenovirus Metapneumovirus Parainfluenza Influenza Coronavirus Enterovirus

Question 350

List the presentations in bronchiolitis

Answer 350

Preceded by URT symptoms * Rhinitis * Cough * Low-grade fever Followed by LRT symptoms * Retractions * Wheezing * Laboured breathing Systemic signs * Irritability * Malaise * Poor feeding

Question 351

List the physical examination findings in bronchiolitis

Answer 351

Tachypnoea Retractions Wheezes Crackles Thoracoabdominal asynchrony

Question 352

List the chest X ray signs in bronchiolitis

Answer 352

Hyperinflation Interstitial inflammation Atelectasis

Question 353

List the causes of pneumonia in children

Answer 353

Viral - respiratory syncytial virus Bacterial Streptococcus pneumoniae Group A stretococci Staphylococcus aureus Haemophilus influenzae Mycoplasma pneumoniae Chlamydia pneumoniae

Question 354

List the presentations of pneumonia in children

Answer 354

Fever, cough, shortness of breath Lethargy Poor feeding Pleural irritation - localised chest, abdominal, neck pain

Question 355

List the physical examination findings of pneumonia in children

Answer 355

Tachypnoea Localised dullness on percussion Decreased breath sounds Bronchial breathing End-inspiratory coarse crackles

Question 356

List the investigations for pneumonia in children

Answer 356

Chest x-ray Pulse oximetry Arterial blood gas

Question 357

List the chest x-ray signs in pneumonia in children

Answer 357

Consolidation Complicated pneumonia: * Cavitation * Pleural effusion * Multifocal consolidation

Question 358

Give the first line and alternative antibiotics for pneumonia in children

Answer 358

Oral amoxicillin 5 days Co-amoxiclav, cefaclor, clarithromycin

Question 359

Give the causative organism in Pertussis

Answer 359

Bordetella pertussis

Question 360

List the presentations of pertussis

Answer 360

Prolonged cough illness Inspiratory whoop Post-tussive emesis Apnoea or cyanosis in infants

Question 361

List the presentations in the three stages of Pertussis

Answer 361

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.

Question 362

Give the typical duration of catarrhal stage in pertussis

Answer 362

1-2 weeks

Question 363

Give the typical duration of paroxysmal stage in pertussis

Answer 363

1-6 weeks

Question 364

Give the typical duration of convalescent stage in pertussis

Answer 364

2-3 weeks

Question 365

Which stage of pertussis is the patient most infectious

Answer 365

Stage 1: catarrhal stage

Question 366

List the investigations in pertussis

Answer 366

Nasopharyngeal aspirate culture / posterior nasopharynx swab Nucleic acid amplification test Serology FBC

Question 367

List the first and second line antibiotics for pertussis

Answer 367

Macrolides (first line) * Azithromycin/Clarithromycin (preferred) * Erythromycin Trimethoprim/sulfamethoxazole (second line)

Question 368

List the symptoms in asthma in children

Answer 368

Cough Wheeze Breathlessness Chest tightness

Question 369

Describe the characteristics of asthma symptom

Answer 369

Episodic Diurnal Triggered / exacerbated by exercise, infection, exposure to cold or allergens

Question 370

List the risk factors for asthma in children

Answer 370

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

Question 371

List the complications from asthma in children

Answer 371

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

Question 372

List the investigations for asthma in children

Answer 372

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

Question 373

List the presentations of Bronchiectasis in children

Answer 373

Chronic wet cough Coarse crackles Finger clubbing

Question 374

List the causes of Bronchiectasis in children

Answer 374

Cystic fibrosis Primary ciliary dyskinesia Chronic aspiration Immunodeficiency

Question 375

Give the chest CT finding in Bronchiectasis

Answer 375

Bronchial dilatation

Question 376

Give the pathophysiological mechanism in cystic fibrosis

Answer 376

CFTR7 gene mutation (Most frequently F508del) Mutations in CFTR result in abnormal salt transport by epithelial cells - thick, sticky secretions.

Question 377

List the clinical features of CF in newborn

Answer 377

Diagnosed through newborn screening Meconium ileus

Question 378

List the clinical features of CF in infants

Answer 378

Prolonged neonatal jaundice Growth faltering Recurrent chest infections Malabsorption, steatorrhoea

Question 379

List the clinical features of CF in young child

Answer 379

Bronchiectasis Rectal prolapse Nasal polyp Sinusitis

Question 380

List the clinical features of CF in older child and adolescent

Answer 380

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)

Question 381

List the physical signs of cystic fibrosis in children

Answer 381

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

Question 382

List the gold standard investigation for cystic fibrosis in children

Answer 382

Sweat test - sweat chloride >60 mmol/L

Question 383

List the investigations for cystic fibrosis in children

Answer 383

Newborn blood spot screening Sweat test (gold standard) - sweat chloride >60 mmol/L Immunoreactive trypsinogen (IRT) test - positive Genetic testing

Question 384

List the management for cystic fibrosis in children

Answer 384

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

Question 385

Give the inheritance in primary ciliary dyskinesia

Answer 385

Autosomal recessive

Question 386

Give the presentations in primary ciliary dyskinesia

Answer 386

Recurrent infection of the upper and lower respiratory tracts * Recurrent productive cough * Purulent nasal discharge * Chronic ear infections Bronchiectasis

Question 387

What is primary ciliary dyskinesia associated with?

Answer 387

Kartagener syndrome with dextrocardia and situs inversus (major organs are in the mirror position of normal)

Question 388

Define hip dysplasia

Answer 388

a radiographic finding alone showing an imperfect degree of coverage of the femoral head by the acetabulum

Question 389

Define hip subluxation

Answer 389

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.

Question 390

Define hip dislocation

Answer 390

the femoral head sits fully outside of the acetabulum, either at rest or with provocative testing.

Question 391

Define fixed antenatal dislocation (teratological)

Answer 391

typically associated with multiple deformation, neurological conditions, or other syndromes (e.g., arthrogryposis), where more invasive intervention is usually required to attempt a reduction.

Question 392

List the presentations of developmental dysplasia of the hip

Answer 392

Restricted abduction Abnormal positioning of the leg Delayed crawling/walking Pain / abnormal gait

Question 393

How is developmental dysplasia of the hip typically identified

Answer 393

Physical examination using the Barlow and Ortolani tests

Question 394

Give the management for developmental dysplasia of the hip

Answer 394

spica cast

Question 395

Define scoliosis

Answer 395

Lateral curvature in the frontal plane of the spine

Question 396

List the causes of scoliosis

Answer 396

Idiopathic Congenital * Hemivertebra * Spina bifida * VACTERL anomalies Secondary * Spinal muscular atrophy * Cerebral palsy * Polyostotic fibrous dysplasia of the axial skeleton * Marfan’s syndrome

Question 397

List the physical signs in scoliosis

Answer 397

Shoulder height, waist asymmetry, asymmetry of the thoracic cavity, ribs and breasts Truncal decompensation Leg-length discrepancy Skin lesions suggestive of other causes * Neural tube defects - hair patches, sinuses, and dimples * Neurofibromatosis - café au lait spots and axillary spotting

Question 398

Give the inheritance in Ehlers-Danlos syndrome

Answer 398

Autosomal dominant

Question 399

List the characteristics of Ehlers-Danlos syndrome

Answer 399

Joint hypermobility Skin hyperextensibility Tissue fragility

Question 400

List the diagnostic criteria for Joint hypermobility

Answer 400

Beighton 9-point score - Generalised hypermobility if > 5 Dorsiflex the 5th metacarpophalangeal joint to 90° or greater (1 point for each side) Oppose the thumb to the volar aspect of the ipsilateral forearm (1 point for each side) Hyperextend the elbow to 10° or greater (1 point for each side). Hyperextend the knee to 10° or greater (1 point for each side). Place the hands flat on the floor with the knees fully extended (1 point).

Question 401

List the presentations in Ehlers-Danlos syndrome

Answer 401

Musculoskeletal manifestations: Joint hypermobility Joint pains Joint dislocation or subluxation Impaired joint proprioception Muscle spasm Chronic pain syndrome Marfanoid habitus Weakness of supporting structures Skin manifestations: Soft and silky skin Easy bruising Stretch marks (striae atrophicae) Delayed / incomplete wound healing Atrophic scars Autonomic abnormalities: Cardiovascular * Orthostatic hypotension * Orthostatic intolerance * Postural orthostatic tachycardia syndrome * Neurally mediated hypotension (vasovagal syncope) Gastrointestinal * Gastritis/GORD * Gastroparesis * Irritable bowel syndrome * Rectal evacuatory disorder Gynaecological manifestations: Abnormal bleeding Dysmenorrhoea Dysparenunia Endometriosis

Question 402

List the Marfanoid habitus features

Answer 402

High arched palate Arachnodactyly Pectus excavatum or carinatum Scoliosis Arm span to height ratio >1.05 Tall stature with reduced upper segment to lower segment (US/LS) ratio of <0.85 Foot length (heel to first toe) to height ratio >0.15 Hand length (wrist crease to third finger) to height ratio >0.11

Question 403

Define Orthostatic hypotension

Answer 403

Blood pressure decrease of >20/10 mmHg within 3 minutes of standing

Question 404

Define Orthostatic intolerance

Answer 404

Development of symptoms (acrocyanosis, swollen legs) within 10 minutes of upright posture that improve upon lying down.

Question 405

Define Postural orthostatic tachycardia syndrome

Answer 405

>30 bpm increase in pulse on standing or >120 bpm within 10 minutes of head-up tilt-table testing, both in the absence of orthostatic hypotension that might trigger a normal tachycardic response.

Question 406

List the differential diagnosis for an acute painful limp in 1–3 year olds

Answer 406

Infection * septic arthritis * osteomyelitis of hip or spine Transient synovitis Trauma Malignant disease * Leukaemia * Neuroblastoma

Question 407

List the differential diagnosis for a Chronic and intermittent limp in 1–3 year olds

Answer 407

Developmental dysplasia of the hip Neuromuscular - cerebral palsy Juvenile idiopathic arthritis

Question 408

List the differential diagnosis for an acute painful limp in 3–10 year olds

Answer 408

Transient synovitis Septic arthritis/osteomyelitis Trauma and overuse injuries Perthes disease (acute) Juvenile idiopathic arthritis (JIA) Leukaemia Complex regional pain syndrome

Question 409

List the differential diagnosis for a Chronic and intermittent limp in 3–10 year olds

Answer 409

Perthes disease (chronic) Duchenne muscular dystrophy Juvenile idiopathic arthritis (JIA) Tarsal coalition

Question 410

List the differential diagnosis for an acute painful limp in 11–16 year olds

Answer 410

Mechanical Slipped capital femoral epiphysis (acute) Avascular necrosis of the femoral head Reactive arthritis Juvenile idiopathic arthritis (JIA) Septic arthritis/osteomyelitis Osteochondritis dissecans of the knee Bone tumours and malignancy Complex regional pain syndrome

Question 411

List the differential diagnosis for a Chronic and intermittent limp in 11–16 year olds

Answer 411

Slipped capital femoral epiphysis (chronic) Juvenile idiopathic arthritis (JIA) Tarsal coalition

Question 412

Define transient synovitis (‘irritable hip’)

Answer 412

Self-limiting inflammatory disorder of the hip that commonly affects young children between 2 and 12 years of age.

Question 413

List the presentations in Transient synovitis (‘irritable hip’)

Answer 413

Mild to moderate hip pain, may be referred to the knee Limp Usually afebrile

Question 414

List the X-ray signs of transient synovitis (‘irritable hip’)

Answer 414

Typically normal Capsular distention Joint space widening Diminution of the definition of soft-tissue planes around the hip joint Slight demineralisation of the bone of the proximal femur

Question 415

Give an ultrasound finding in transient synovitis (‘irritable hip’)

Answer 415

Effusions

Question 416

List the criteria that differentiates septic arthritis from transient synovitis in a child with irritable hip

Answer 416

Kocher criteria: Non-weight-bearing on the affected side Fever >38.5°C Erythrocyte sedimentation rate >40 White blood cell count >12,000 Score - Likelihood of septic arthritis 1 - 3% 2 - 40% 3 - 93% 4 - 99%

Question 417

Define Perthes' disease

Answer 417

Self-limiting disease of the femoral head comprising necrosis, collapse, repair, and re-modelling.

Question 418

Which gender is Perthes' disease more common in

Answer 418

Boys

Question 419

List the pathophysiology in Perthes' disease

Answer 419

Single or multiple vascular events, followed by re-vascularisation Stage 1 - ischaemia Stage 2 - resorption, fragmentation, re-vascularisation, and repair Stage 3 - re-ossification and resolution Stage 4 - re-modelling

Question 420

List the risk factors in Perthes' disease

Answer 420

Passive smoking / maternal smoking during pregnancy Low socio-economic status Family history of skeletal dysplasias / thrombotic disease

Question 421

List the presentations in Perthes' disease

Answer 421

Limping gait Hip pain radiating into the thigh, knees, groin, buttocks. * Typically unilateral * Pain worsens during activities. Short stature Delayed bone age Hyperactivity

Question 422

Give the investigation and findings in Perthes' disease

Answer 422

Bilateral hip x-rays * Femoral head collapse and fragmentation * Subchondral fracture

Question 423

List the risk factors for Slipped capital femoral epiphysis

Answer 423

Obesity Endocrine disorders: * Panhypopituitarism * Hypothyroidism * Renal osteodystrophy

Question 424

List the complications for Slipped capital femoral epiphysis

Answer 424

Avascular necrosis Chrondrolysis

Question 425

Give the pathophysiology of Slipped capital femoral epiphysis

Answer 425

Weakness in the proximal femoral growth plate allows displacement of the capital femoral epiphysis.

Question 426

Give the presentation of slipped capital femoral epiphysis

Answer 426

Medial knee, hip, groin, and/or thigh pain.

Question 427

List the physical examination findings in slipped capital femoral epiphysis

Answer 427

Features of panhypopituitarism Growth hormone deficiency Renal osteodystrophy Hypothyroidism Trendelenburg’s test positive

Question 428

List the investigations for slipped capital femoral epiphysis

Answer 428

Metabolic panel Thyroid function tests Pituitary hormones Plain x-rays AP and lateral views

Question 429

List the X-ray signs in slipped capital femoral epiphysis

Answer 429

Klein line not intersecting the femoral head Bloomberg's sign positive - blurred / widened physis

Question 430

List the causes of polyarthritis in children

Answer 430

Infection * Bacterial – septicaemia/septic arthritis, TB * Viral – rubella, mumps, adenovirus, coxsackie B, herpes, hepatitis, parvovirus * Other – Mycoplasma, Lyme disease, rickettsia * Reactive – gastrointestinal infection, streptococcal infection * Rheumatic fever Inflammatory bowel disease Vasculitis * Henoch–Schönlein purpura * Kawasaki disease Haematological disorders * Haemophilia * Sickle cell disease Malignant disorders * Leukaemia * Neuroblastoma Connective tissue disorders * Juvenile idiopathic arthritis (JIA) * Systemic lupus erythematosus (SLE) * Dermatomyositis * Mixed connective tissue disease (MCTD) * Polyarteritis nodosa (PAN) Cystic fibrosis

Question 431

List the classification in juvenile idiopathic arthritis

Answer 431

Oligoarthritis (≤4 joints) Polyarthritis (>4 joints) (RF-negative) Polyarthritis (>4 joints) (RF-positive) Systemic (fever and rash) Psoriatic arthritis Enthesitis Undifferentiated

Question 432

List the presentations in juvenile idiopathic arthritis

Answer 432

Joint pain during motion / on palpation Joint swelling Limp Morning stiffness Enthesitis Systemic-onset juvenile idiopathic arthritis * Fever * Rash (elicited by scratching the skin - Koebner's phenomenon)

Question 433

List the complications in juvenile idiopathic arthritis

Answer 433

Anterior uveitis Micrognathia Leg length discrepancy Joint erosion Macrophage activation syndrome

Question 434

List the management in juvenile idiopathic arthritis

Answer 434

NSAIDs and analgesics Intra-articular corticosteroids Methotrexate Cytokine modulators

Question 435

Give the inheritance in Achondroplasia

Answer 435

Autosomal dominant

Question 436

Give the genetic mechanism in Achondroplasia

Answer 436

Mutations in fibroblast growth factor receptor 3 gene

Question 437

Give the presentation in Achondroplasia

Answer 437

Short stature, shortening of the limbs Large head Frontal bossing Depression of the nasal bridge

Question 438

Give the inheritance in Osteogenesis imperfecta

Answer 438

Autosomal dominant

Question 439

Which type of collagen does Osteogenesis imperfecta affect?

Answer 439

type 1 collagen

Question 440

List the presentation in Osteogenesis imperfecta

Answer 440

Bone fragility Blue sclerae Hearing loss

Question 441

Give the inheritance in Osteopetrosis (marble bone disease)

Answer 441

Autosomal recessive

Question 442

List the presentations in Osteopetrosis (marble bone disease)

Answer 442

Faltering growth Hypocalcaemia Anaemia Thrombocytopenia Recurrent infection

Question 443

List the red - high risk features in a feverish children (NICE traffic light system)

Answer 443

Colour - pale/mottled/ashen/blue Activity * No response to social cues * Appears ill to a healthcare professional * Does not wake / if roused does not stake awake * Weak, high-pitched / continuous cry Respiratory * Grunting * Tachypnoea >60 breaths/minute * Chest indrawing Circulation and hydration - reduced skin turgor Other * Age < 3 months, temperature > 38C * Non-blanching rash * Bulging fontanelle * Neck stiffness * Status epilepticus * Focal neurological signs * Focal seizures

Question 444

What is Scarlet fever caused by

Answer 444

toxin-producing strains of the bacterium Streptococcus pyogenes (GAS)

Question 445

What is Scarlet fever transmitted through

Answer 445

Aerosol Contaminated surfaces

Question 446

When is Scarlet fever infectious

Answer 446

2–3 weeks after the onset of symptoms, unless treated

Question 447

Which age group does Scarlet fever most commonly affect

Answer 447

2~8 years old

Question 448

How long is the incubation period for scarlet fever?

Answer 448

2~3 days

Question 449

Define a scarlet fever outbreak

Answer 449

a credible report of two or more probable or confirmed scarlet fever cases attending the same school or nursery or other childcare setting, notified within 10 days of each other (two maximum incubation periods), with an epidemiological link between cases

Question 450

List the complications from scarlet fever

Answer 450

Suppurative complications (early) Otitis media Throat infection and abscess * Peritonsillar cellulitis * Peritonsillar abscess * Retropharyngeal abscess Acute sinusitis and mastoiditis Non-suppurative (immune-mediated) complications (late) Acute rheumatic fever * Endocarditis * Reactive arthritis Acute post-streptococcal glomerulonephritis (2 weeks after) Life threatening complications Streptococcal pneumonia Meningitis and cerebral abscess Endocarditis, septic arthritis, and liver abscess Cellulitis, necrotizing fasciitis, and streptococcal toxic shock syndrome Sepsis Death

Question 451

List the clinical features in scarlet fever

Answer 451

Sore throat. Fever >38.3°C Headache, fatigue, nausea/vomiting Blanching rash * sandpaper-like texture * red, generalized, pinpoint * accentuated in the skin folds * palms and soles are typically spared * skin may peel after the rash resolves Flushed face, with marked circumoral pallor Pharyngitis and petechiae on the hard and soft palate (Forchheimer spots) Strawberry tongue Cervical lymphadenopathy

Question 452

List the investigations for scarlet fever

Answer 452

Throat swab for culture of GAS Serum anti-streptolysin O (ASO) antibody titres

Question 453

List the differential diagnoses for scarlet fever

Answer 453

Rubella Parvovirus B19 Measles Roseola infantum (herpesvirus type 6) Enterovirus and adenovirus infections Kawasaki disease Staphylococcal toxic shock syndrome Tropical viruses, including alphaviruses and flaviviruses (for example Dengue fever)

Question 454

List the differential diagnoses for rash with lymphadenopathy

Answer 454

Rubella Brucellosis Cytomegalovirus Toxoplasmosis HIV Syphilis Mononucleosis reaction to amoxicillin

Question 455

List the differential diagnoses for rash without lymphadenopathy

Answer 455

Adverse drug reactions Echovirus Coxsackievirus Viral hepatitis

Question 456

Give the first line management in scarlet fever

Answer 456

phenoxymethylpenicillin 10 days

Question 457

List the management options in scarlet fever for penicillin allergy

Answer 457

Birth to 6 months - clarithromycin 10 days. Non-pregnant adults and children 6 months to 17 years: * azithromycin 5 days, or * clarithromycin 10 days. Pregnant or postpartum (within 28 days of childbirth) - erythromycin 10 days

Question 458

List the risk factors for Staphylococcal toxic shock syndrome

Answer 458

tampon use the postpartum period staphylococcal skin / soft tissue infections comorbid influenza infection

Question 459

List the features of Staphylococcal toxic shock syndrome

Answer 459

fever headache skin rash confusion vomiting, or diarrhoea

Question 460

Give the feature in Roseola infantum (herpesvirus type 6)

Answer 460

Generalised pink papular / maculopapular rash Starts on the trunk before spreading to the face and limbs

Question 461

Give the skin features in Parvovirus B19

Answer 461

Diffuse erythematous facial rash appearing on one or both cheeks ('slapped cheek') Erythematous maculopapular rash on the trunk, back, and limbs a few days after

Question 462

Give the skin features in Rubella

Answer 462

Non-confluent, maculopapular rash that starts behind the ears, spreads to the face and neck, and then to the trunk and extremities Transient, lasting between 3–5 days Associated cervical lymphadenopathy

Question 463

Give the skin features in Measles

Answer 463

Erythematous maculopapular rash that becomes confluent as it progresses Appears on the face and behind the ears first before spreading to the trunk and limbs over 3–4 days Accompanied by severe symptoms of viraemia (malaise, fever, loss of appetite, cough, rhinorrhoea, and conjunctivitis)

Question 464

List the symptoms and signs of hepatic dysfunction in children

Answer 464

Encephalopathy Jaundice Epistaxis Cholestasis * Fat malabsorption * Deficiency of fat-soluble vitamins * Pruritus * Pale stools * Dark urine Ascites Hypotonia Peripheral neuropathy Rickets secondary to vitamin D deficiency Varices with portal hypertension Spider naevi Muscle wasting from malnutrition Bruising and petechiae Splenomegaly with portal hypertension Hypersplenism Hepatorenal failure Palmar erythema Clubbing Loss of fat store secondary to malnutrition

Question 465

List the congenital heart lesions with left to right shunts

Answer 465

(breathless) Ventricular septal defect Atrial septal defect Patent ductus arteriosus

Question 466

List the congenital heart lesions with right to left shunts

Answer 466

(blue) Tetralogy of Fallot Transposition of the great arteries

Question 467

List the congenital heart lesions with common mixing

Answer 467

(breathless and blue) Atrioventricular septal defect Pulmonary stenosis Aortic stenosis Outflow obstruction in a well child (asymptomatic with a murmur)

Question 468

List the congenital heart lesions with outflow obstruction in a sick neonate

Answer 468

(collapsed with shock) Coarctation of the aorta

Question 469

List the risk factors for congenital heart disease

Answer 469

Maternal disorders * Rubella infection * SLE * Diabetes mellitus Maternal drugs * Warfarin * Foetal alcohol syndrome Chromosomal abnormality * Down syndrome (trisomy 21) * Edwards syndrome (trisomy 18) * Patau syndrome (trisomy 13) * Turner syndrome (45XO) * Chromosome 22q11.2 deletion * Williams syndrome (7q11.23 microdeletion) * Noonan syndrome (PTPN11 mutation) * Duchenne muscular dystrophy

Question 470

List the congenital heart defect associated with maternal Rubella infection

Answer 470

Peripheral pulmonary stenosis Patent ductus arteriosus

Question 471

List the congenital heart defect associated with maternal SLE

Answer 471

complete heart block (anti-Ro and anti-La antibody)

Question 472

List the congenital heart defect associated with maternal Wafarin

Answer 472

Pulmonary valve stenosis Patent ductus arteriosus

Question 473

List the congenital heart defect associated with foetal alcohol syndrome

Answer 473

Atrial septal defect Ventricular septal defect Tetralogy of Fallot

Question 474

List the congenital heart defect associated with Down syndrome (trisomy 21)

Answer 474

Arterioventricular septal defect Ventricular septal defect

Question 475

List the congenital heart defect associated with Turner syndrome (45XO)

Answer 475

Aortic valve stenosis Coarctation of the aorta

Question 476

List the congenital heart defect associated with Chromosome 22q11.2 (DiGeorge syndrome) deletion

Answer 476

Tetralogy of Fallot Aortic arch anomalies Common arterial trunk

Question 477

List the congenital heart defect associated with Williams syndrome (7q11.23 microdeletion)

Answer 477

Supravalvular aortic stenosis Peripheral pulmonary artery stenosis

Question 478

List the congenital heart defect associated with Noonan syndrome (PTPN11 mutation)

Answer 478

Hypertrophic cardiomyopathy Atrial septal defect Pulmonary valve stenosis

Question 479

List the congenital heart defect associated with Duchenne muscular dystrophy

Answer 479

Cardiomyopathy

Question 480

List the presentations for a congenital heart disease

Answer 480

Antenatal cardiac ultrasound diagnosis Detection of a heart murmur Heart failure Shock Cyanosis

Question 481

Give the murmur heard in pulmonary stenosis

Answer 481

Ejection systolic murmur

Question 482

List the symptoms and signs of heart failure in children

Answer 482

Symptoms * Breathlessness (particularly on feeding or exertion) * Sweating * Poor feeding * Recurrent chest infections Signs * Poor weight gain or faltering growth * Tachypnoea * Tachycardia * Heart murmur, gallop rhythm * Enlarged heart * Hepatomegaly * Cool peripheries

Question 483

List the causes of heart failure in neonates

Answer 483

(obstructed duct-dependent systemic circulation) Hypoplastic left heart syndrome Critical aortic valve stenosis Severe coarctation of the aorta Interruption of the aortic arch

Question 484

List the causes of heart failure in infants

Answer 484

(high pulmonary blood flow) Ventricular septal defect Atrioventricular septal defect Large persistent ductus arteriosus

Question 485

List the causes of heart failure in older children and adolescents

Answer 485

Eisenmenger syndrome (right heart failure only) Rheumatic heart disease Cardiomyopathy

Question 486

List the causes of cyanosis in a newborn infant with respiratory distress (>60 breaths/min)

Answer 486

Cyanotic congenital heart disease Respiratory disorders * Respiratory distress syndrome (surfactant deficiency) * Meconium aspiration * Pulmonary hypoplasia Persistent pulmonary hypertension of the newborn Group B strep sepsis Inborn error of metabolism - metabolic acidosis and shock

Question 487

Give the pathophysiology in atrial septal defect

Answer 487

L to R shunt R heart volume overload RA and RV dilation Raised pulmonary pressure

Question 488

List the classification of atrial septal defect based on location

Answer 488

Secundum - in the region of the fossa ovalis Ostium primum - anterior to the fossa ovalis and superior to the atrioventricular valves Sinus venosus - superior and posterior to the fossa ovalis Unroofed coronary sinus - near the orifice of the coronary sinus Vestibular defects - in the muscular antero-inferior rim of the fossa ovalis

Question 489

List the presentations in atrial septal defect

Answer 489

Usually asymptomatic Dyspnoea Fatigue Failure to thrive Recurrent lower respiratory infections Heart failure

Question 490

List the physical examination findings in atrial septal defect

Answer 490

Hyperdynamic right ventricular impulse by palpation Fixed split second heart sound Systolic ejection murmur best heard at the left upper sternal border and radiating to the back

Question 491

Give the gold standard investigation in atrial septal defect

Answer 491

Transthoracic echocardiography

Question 492

List the CXR findings in atrial septal defect

Answer 492

Cardiomegaly Enlarged pulmonary arteries Increased pulmonary vascular markings

Question 493

List the ECG signs in atrial septal defect

Answer 493

Partial right bundle branch block Right axis deviation due to right ventricular enlargement

Question 494

When may corrective closure be indicated in ASD?

Answer 494

Ratio of pulmonary vascular to systemic blood flow ≥1.5 Evidence of right atrial enlargement Pulmonary vascular resistance <5 Wood units (WU)

Question 495

What chromosomal disorders are congenital VSDs often associated with

Answer 495

Down's syndrome Edward's syndrome Patau syndrome

Question 496

List the acquired causes of VSD

Answer 496

Acute myocardial infarction (2~5 days after) Penetrating trauma

Question 497

List the signs in Eisenmenger’s syndrome

Answer 497

Cyanosis Clubbing

Question 498

List the pathophysiology in VSD

Answer 498

Large volume of blood shunts into pulmonary vasculature Pulmonary hypertension RV pressure becomes suprasystemic, shunts blood right to left Cyanosis

Question 499

List the presentations in VSD

Answer 499

Shortness of breath on exertion Heart failure * Tachypnoea * Tachycardia * Hepatomegaly Failure to thrive Recurrent chest infections

Question 500

List the physical examination signs in VSD

Answer 500

Holosystolic murmur at the lower left parasternal border Palpable thrill Loud pulmonic component of S2 Signs of cardiomegaly * Downward and lateral displacement of apical impulse * Parasternal heave (RVH) Tachypnoea

Question 501

Give the gold standard investigation in VSD and its finding

Answer 501

Transthoracic echocardiography with colour Doppler * High-velocity systolic jet

Question 502

List the CXR findings in VSD

Answer 502

Cardiomegaly Enlarged pulmonary arteries Increased pulmonary vascular markings Pulmonary oedema

Question 503

List the ECG signs in VSD

Answer 503

Bi-ventricular hypertrophy

Question 504

When is surgical closure of VSD contraindicated?

Answer 504

Severe pulmonary hypertension Eisenmenger’s syndrome

Question 505

When does Ductus arteriosus close

Answer 505

In the first 48 hours after birth

Question 506

List the pathophysiology in patent ductus arteriosus

Answer 506

Persistent communication between proximal L pulmonary artery and descending aorta L to R shunt Dilation of pulmonary artery, LA, LV Overtime, Eisenmenger’s syndrome develops

Question 507

List the symptoms in Patent ductus arteriosus

Answer 507

Tachypnoea Irritability Diaphoresis Poor feeding Failure to gain weight

Question 508

List the auscultation signs in Patent ductus arteriosus

Answer 508

Continuous machinery murmur below left clavicle in the 1st intercostal space * Turbulent aortic and pulmonary shunting in systole and diastole

Question 509

Give the gold standard investigation in PDA

Answer 509

transthoracic echocardiogram

Question 510

List the CXR signs in PDA

Answer 510

Cardiomegaly Increased pulmonary markings

Question 511

List the ECG signs in PDA

Answer 511

LV dilation and hypertrophy - Deep Q waves and tall R waves in leads II, III, AVF, V5, and V6. LA enlargement - P Mitrale

Question 512

List the components of tetralogy of Fallot

Answer 512

Overriding aorta RV outflow obstruction (pulmonary stenosis) RV hypertrophy VSD

Question 513

What genetic syndromes are Tetralogy of Fallot associated with

Answer 513

DiGeorge syndrome Down’s syndrome

Question 514

List the symptoms and signs for tetralogy of Fallot

Answer 514

Symptoms * Murmur * Cyanosis * Hypercyanotic spells - typically crying and breathing deeply and rapidly * Squatting on exercise Signs * Clubbing * Loud harsh ejection systolic murmur at the left sternal edge * Increased parasternal impulse (RVH)

Question 515

Give the gold standard investigation in tetralogy of Fallot

Answer 515

transthoracic echocardiography

Question 516

Give the CXR sign in Tetralogy of Fallot

Answer 516

Boot-shaped heart

Question 517

List the ECG signs in Tetralogy of Fallot

Answer 517

RVH with a rightwards axis R in V1 and S in V6 above age-appropriate normals

Question 518

Give the pathology in transposition of the great arteries

Answer 518

The aorta is connected to the right ventricle and the pulmonary artery is connected to the left ventricle.

Question 519

List the clinical features in Transposition of the great arteries

Answer 519

Cyanosis Loud and single S2 Systolic murmur from increased flow or stenosis within the left ventricular (pulmonary) outflow tract

Question 520

List the CXR signs in Transposition of the great arteries

Answer 520

Narrow upper mediastinum with an ‘egg on string’ appearance Increased pulmonary vascular markings

Question 521

Which genetic syndrome is AVSD most commonly seen in

Answer 521

Down syndrome

Question 522

List the presentations of AVSD

Answer 522

Presentation on antenatal ultrasound screening Cyanosis at birth or heart failure at 2-3 weeks of life No murmur Superior axis on the ECG

Question 523

List the duct-dependent systemic circulation lesions

Answer 523

Hypoplastic left heart syndrome Critical aortic stenosis Coarctation of the aorta

Question 524

List the duct-dependent pulmonary circulation lesions

Answer 524

Pulmonary atresia Critical pulmonary stenosis Tricuspid atresia Severe Tetralogy of Fallot

Question 525

List the Duct dependent systemic and pulmonary circulation lesions

Answer 525

Transposition of the great arteries

Question 526

List other CHDs associated with aortic stenosis

Answer 526

mitral valve stenosis coarctation of the aorta

Question 527

List the symptoms and signs of aortic stenosis

Answer 527

Clinical features Asymptomatic murmur Reduced exercise tolerance Chest pain on exertion Syncope Physical signs Small volume, slow rising pulses (Pulsus tardus et parvus) Carotid thrill Ejection systolic murmur maximal at the upper right sternal edge radiating to the neck Delayed and soft aortic second sound Apical ejection click

Question 528

List the CXR signs in aortic stenosis

Answer 528

Prominent left ventricle Post-stenotic dilatation of the ascending aorta

Question 529

List the ECG signs in aortic stenosis

Answer 529

LVH: deep S wave in V2 and tall R wave in V6 (>45 mm total) Downgoing T wave

Question 530

List the symptoms and signs of pulmonary stenosis

Answer 530

Clinical features Mostly asymptomatic Duct-dependent pulmonary circulation - cyanosis Physical signs Thrills, ejection systolic murmur best heard at the upper left sternal edge Prominent right ventricular heave

Question 531

List the CXR sign in pulmonary stenosis

Answer 531

post-stenotic dilatation of the pulmonary artery

Question 532

List the ECG sign in pulmonary stenosis

Answer 532

Right ventricular hypertrophy (upright T wave in V1)

Question 533

List the clinical features in coarctation of the aorta

Answer 533

Systemic hypertension in the right arm Ejection systolic murmur at upper sternal edge Collaterals heard with continuous murmur at the back * Intercostal arteries * Internal thoracic artery Radio-femoral delay

Question 534

List the presentations of coarctation of aorta in neonates

Answer 534

Acute circulatory collapse: * Severe heart failure * Absent femoral pulses * Severe metabolic acidosis

Question 535

List the CXR signs in coarctation of aorta

Answer 535

‘Rib notching’ due to the development of large collateral intercostal arteries running under the ribs posteriorly to bypass the obstruction ‘3’ sign, with visible notch in the descending aorta at site of the coarctation

Question 536

List the ECG signs in coarctation of aorta

Answer 536

LVH: Deep S wave in V2 and tall R wave in V6 Left ventricular strain (lateral leads I, aVL, V5-6) Upright T wave T wave inversion originating from a depressed ST segment

Question 537

List the management for outflow obstruction in the sick infant

Answer 537

Resuscitate (ABC) Prostaglandin * Alprostadil * Dinoprostone Surgical intervention

Question 538

List the adverse effects of prostaglandins

Answer 538

Apnoea Bradycardia Severe hypotension Hyperthermia

Question 539

List the classification of interruption of the aortic arch

Answer 539

Type A: The discontinuity is distal to the left subclavian artery (approximately in the same region as coarctation of the aorta). Type B (most common): The discontinuity is more proximal, between the left carotid and subclavian. Type C: The discontinuity is between the brachiocephalic artery and the left common carotid artery.

Question 540

List the presentation of Interruption of the aortic arch in neonates

Answer 540

Shock

Question 541

List the genetic syndrome associated with Interruption of the aortic arch

Answer 541

DiGeorge syndrome (chromosome 22q11.2 microdeletion)

Question 542

List the presentations in hypoplastic left heart syndrome

Answer 542

Detected antenatally at ultrasound screening Profound acidosis Rapid cardiovascular collapse All peripheral pulses absent

Question 543

List the presentations for supra ventricular tachycardia

Answer 543

Heart failure Hydrops fetalis Intrauterine death

Question 544

List ECG signs in supraventricular tachycardia

Answer 544

Narrow complex tachycardia of 250~300 bpm Retrograde P wave (after QRS complex) Severe heart failure: T-wave inversion in the lateral precordial leads

Question 545

Give the gold standard treatment in supraventricular tachycardia

Answer 545

IV adenosine

Question 546

List the non-pharmacological management in supra ventricular tachycardia

Answer 546

Circulatory and respiratory support * Correct tissue acidosis * Positive pressure ventilation Vagal stimulation manoeuvres * Carotid sinus massage * Cold ice pack to face

Question 547

Give the pathophysiology for congenital complete heart block

Answer 547

Anti-Ro or anti-La antibodies in maternal serum Prevent normal development of the electrical conduction system Atrophy and fibrosis of the atrioventricular node

Question 548

List the complications for congenital complete heart block

Answer 548

Hydrops fetalis Death in utero Heart failure

Question 549

Give the ECG sign in congenital complete heart block

Answer 549

Dissociated P waves and QRS complexes

Question 550

List the cardiac causes for syncope in children

Answer 550

Arrhythmic * Heart block * Supraventricular tachycardia * Ventricular tachycardia eg. long QT syndrome Aortic stenosis Hypertrophic cardiomyopathy

Question 551

List the diagnostic criteria for acute rheumatic fever

Answer 551

Evidence of a recent group A streptococcal infection with at least 2 major manifestations or 1 major plus 2 minor manifestations present.

Question 552

List the major and minor manifestations in rheumatic fever

Answer 552

5 major manifestations Carditis Migratory arthritis Sydenham chorea Erythema marginatum Subcutaneous nodules 4 minor manifestations Fever Polyarthralgia Elevated ESR/CRP Prolonged PR interval on ECG

Question 553

Give the complication in rheumatic fever

Answer 553

Rheumatic heart disease - scarring and fibrosis of cardiac valves

Question 554

List the investigations to order in rheumatic fever

Answer 554

Increased ESR, CRP No increased leukocyte Blood culture ECG - PR interval lengthening Chest X ray Echocardiogram - acute carditis/RHD Throat culture - Group A Streptococcus Anti-streptococcal serology - anti-streptolysin O and anti-DNase B titres Rapid antigen tests - Group A Streptococcus Polymerase chain reaction assays - Group A Streptococcus

Question 555

How may antecedent group A streptococcal infection be demonstrated

Answer 555

Elevated or rising streptococcal antibody titre Positive throat culture Positive rapid antigen test for group A streptococci Recent scarlet fever

Question 556

Give the most common causative organism in infective endocarditis

Answer 556

α-haemolytic streptococcus (Streptococcus viridans)

Question 557

List the groups with highest risks of infective endocarditis in children

Answer 557

VSD Coarctation of aorta PDA Prosthetic material inserted at surgery

Question 558

List the presentations for infective endocarditis

Answer 558

Fever, malaise Anaemia and pallor Microscopic haematuria Splinter haemorrhages in nail bed Clubbing Changing cardiac signs Splenomegaly Necrotic skin lesions Neurological signs (cerebral infarction) Retinal infarcts Arthritis / arthralgia

Question 559

Give the most common vasculitis in the childhood

Answer 559

IgA vasculitis

Question 560

Give the second most common vasculitis in the childhood

Answer 560

Kawasaki’s disease

Question 561

Give the most serious sequelae in Kawasaki's disease

Answer 561

Coronary artery aneurysm

Question 562

List the clinical stages in Kawasaki's disease

Answer 562

Acute febrile stage (lasting weeks 1-2) Subacute stage (lasting weeks 2-3) Convalescent (lasting weeks 4-8) Chronic stage (variable)

Question 563

List the investigations to order for Kawasaki's disease

Answer 563

FBC - anaemia, leukocytosis, thrombocytosis Raised ESR/CRP Echocardiography LFT - transaminitis Urinalysis - mild to moderate sterile pyuria Chest x-ray - exclude pericarditis / pneumonitis Ultrasonography of the gallbladder - exclude hydrops of the gallbladder Ultrasonography of the testes - exclude epididymitis Lumbar puncture - exclude meningitis if nuchal rigidity and high fever

Question 564

List the echocardiography signs in Kawasaki's disease

Answer 564

Left anterior descending coronary artery or right coronary artery Z score ≥2.5 Coronary artery aneurysm seen Decreased left ventricular function Mitral regurgitation Pericardial effusion

Question 565

Give the management in Kawasaki's disease

Answer 565

IVIG + Aspirin

Question 566

Give the second line options in Kawasaki's disease

Answer 566

IV methylprednisolone TNF-a antagonist (infliximab) IL-1 inhibitors (anakinra) Ciclosporin

Question 567

List the causes for pulmonary hypertension

Answer 567

Arterial * Idiopathic: sporadic or familial * Post-tricuspid shunts (VSD, AVSD, PDA) * HIV infection * Persistent pulmonary hypertension of the newborn Venous * Left-sided heart disease * Pulmonary vein stenosis or compression Respiratory disease * Chronic obstructive lung disease / bronchopulmonary dysplasia in preterm infants * Interstitial lung disease * Obstructive sleep apnoea / upper airway obstruction Pulmonary thromboembolic disease Pulmonary inflammatory or capillary disease

Question 568

List the features of Potter sequence

Answer 568

Potter facies: * Low-set ears * Beaked nose * Prominent epicanthic folds and downward slant to eyes Pulmonary hypoplasia - respiratory failure Limb deformities, joint contractures Oligohydramnios

Question 569

What does ureteric bud give arise to embryologically

Answer 569

Urinary collecting system of the kidney: * Collecting tubes * Calyces * Renal pelvis * Ureter

Question 570

Give the pathophysiology in multicystic dysplastic kidney

Answer 570

Failure of the union of the ureteric bud with the nephrogenic mesenchyme

Question 571

List the pathologies in multicystic dysplastic kidney

Answer 571

The kidney consists of irregular cysts of varying sizes that resemble a bunch of grapes Large fluid-filled cysts No renal tissue No connection with the bladder

Question 572

Describe the pathology in horseshoe kidney

Answer 572

Lower poles are fused in the midline

Question 573

List the pathologies in duplex kidneys

Answer 573

Ureter from the lower pole moiety often refluxes Upper pole ureter may drain ectopically into the urethra / vagina / prolapse into the bladder (ureterocele) Urine flow may be obstructed

Question 574

Define prune-belly syndrome

Answer 574

Absence / severe deficiency of the anterior abdominal wall muscles with * Large bladder and dilated ureters (megacystis–megaureter) * Cryptorchidism

Question 575

List the causes for unilateral hydronephrosis

Answer 575

Pelviureteric junction obstruction Vesicoureteric junction obstruction

Question 576

List the causes for bilateral hydronephrosis

Answer 576

Bladder neck obstruction Posterior urethral valves

Question 577

Give the structural anomaly in vesicoureteric reflux

Answer 577

The ureters are displaced laterally and enter directly into the bladder rather than at an angle.

Question 578

List the causes of vesicoureteric reflux

Answer 578

Renal dysplasia Familial Temporarily after UTI Bladder pathology * neuropathic bladder * urethral obstruction

Question 579

List the complications of vesicoureteric reflux

Answer 579

UTI Renal damage if high voiding pressures

Question 580

List the common causal organisms for UTI in children

Answer 580

Escherichia coli Proteus mirabilis Staphylococcus saprophyticus

Question 581

List the risk factors for UTI in children

Answer 581

Age <1 year Female sex White children Previous UTI Voiding dysfunction * structural abnormalities * neurogenic bladder * voluntary withholding of urine (dysfunctional elimination syndrome) * chronic constipation * indwelling foreign bodies Vesicoureteral reflux Sexual activity No history of breastfeeding Immunosuppression

Question 582

Give the presentations for pyelonephritis

Answer 582

Unexplained fever of 38°C or more Loin pain / tenderness

Question 583

List the presentations of lower UTI in infants

Answer 583

Fever Vomiting Lethargy or irritability Poor feeding/faltering growth Jaundice Septicaemia Offensive urine Febrile seizure (>6 months)

Question 584

List the presentations of lower UTI in children

Answer 584

Dysuria, frequency and urgency Abdominal pain or loin tenderness Fever with or without rigours Lethargy and anorexia Vomiting, diarrhoea Haematuria Offensive/cloudy urine Febrile seizure Recurrence of enuresis

Question 585

List the investigations for UTI in children

Answer 585

Urine dipstick - positive leukocyte esterase and nitrite Urine sample for microscopy and culture * Bacteriuria confirms UTI * Pyuria in the absence of bacteriuria may indicate UTI * Absence of both bacteriuria and pyuria rules out UTI Ultrasound of the urinary tract if atypical infection * Structural abnormalities and urinary obstruction * Renal defects Dimercaptosuccinic acid scintigraphy (DMSA) - renal parenchymal defects

Question 586

List the management options for acute pyelonephritis/upper UTI

Answer 586

Oral cephalexin / co-amoxiclav 7–10 days

Question 587

List the management options for cystitis/lower UTI

Answer 587

First line: Trimethoprim / Nitrofurantoin 3 days Second line: Amoxicillin / Cephalexin 3 days

Question 588

List the antibiotic prophylaxis options for recurrent UTI

Answer 588

First line: Trimethoprim / Nitrofurantoin Second line: Amoxicillin / Cefalexin

Question 589

Define primary nocturnal enuresis

Answer 589

Nocturnal enuresis in which the child has never had a period of dryness longer than 6 months

Question 590

Define secondary nocturnal enuresis

Answer 590

Nocturnal enuresis recurring after a period of more than 6 months of the child being dry at night.

Question 591

List the causes for daytime enuresis

Answer 591

Lack of attention to bladder sensation * developmental * behavioural problem Detrusor instability Bladder neck weakness Neuropathic bladder * enlarged bladder fails to empty * irregular thick wall * associated with spina bifida UTI Constipation Ectopic ureter

Question 592

List the causes for secondary nocturnal enuresis

Answer 592

Emotional upset UTI Polyuria * Diabetes mellitus * Renal concentrating disorder (sickle cell disease / CKD) * Diabetes insipidus

Question 593

List the investigations for enuresis

Answer 593

Urine dipstick Early morning urine osmolality Ultrasound of the renal tract

Question 594

Give the definition of nephrotic syndrome

Answer 594

hypoalbuminaemia <30 g/L proteinuria > 3.5g / day hyperlipidaemia peripheral oedema (salt and water retention)

Question 595

List the causes for nephrotic syndrome in children

Answer 595

Minimal change disease Secondary to systemic diseases * Henoch–Schönlein purpura * SLE * Malaria * Allergens (bee sting)

Question 596

List the signs for nephrotic syndrome in children

Answer 596

Periorbital oedema Scrotal / vulval, leg, ankle oedema Ascites Breathlessness (pleural effusions and abdominal distension) Infections * Peritonitis * Septic arthritis * Sepsis

Question 597

List the complications of nephrotic syndrome in children

Answer 597

Hypovolemia Thrombosis Infection Hypercholesterolaemia

Question 598

List the investigations in nephrotic syndrome

Answer 598

Urine PCR - heavy proteinuria ≥3+ protein Urinalysis with microscopy * Cellular casts * Protein electrophoresis Serological studies * Auto-immune screen (ANA, dsDNA, ANCA, anti-phospholipase A2-receptor antibody, C3, C4, cryoglobulins) * Protein electrophoresis, serum free light chains * Syphilis serology * Hepatitis B, C serology * HIV

Question 599

Give the management for nephrotic syndrome

Answer 599

Oral prednisolone Diuretic therapy Salt restriction ACEi NSAIDs

Question 600

List the causes of steroid-resistant nephrotic syndrome

Answer 600

Focal segmental glomerulosclerosis Mesangiocapillary glomerulonephritis (membranoproliferative glomerulonephritis) Membranous nephropathy

Question 601

What is the most common cause of steroid-resistant nephrotic syndrome

Answer 601

Focal segmental glomerulosclerosis

Question 602

List two specific features of mesangiocapillary glomerulonephritis (membranoproliferative glomerulonephritis) in children

Answer 602

Haematuria Low complement level

Question 603

Give the prognosis of focal segmental glomerulosclerosis

Answer 603

30% progress to stage 5 CKD 20% respond to tacrolimus or rituximab Recurrence post-transplant is common

Question 604

How is mesangiocapillary glomerulonephritis (membranoproliferative glomerulonephritis) in children treated

Answer 604

ACEi Mycophenolate mofetil (immunosuppression)

Question 605

What virus is membranous nephropathy associated with?

Answer 605

Hepatitis B

Question 606

Contrast glomerular vs lower urinary tract haematuria

Answer 606

Glomerular haematuria * Brown urine * Abnormally shaped red cells * Cellular casts * Often accompanied by proteinuria Lower urinary tract haematuria * Red, occurs at the beginning or end of the urinary stream * Not accompanied by proteinuria

Question 607

List the causes of haematuria

Answer 607

Acute glomerulonephritis Non-glomerular causes: * Infection (bacterial, viral, tuberculosis, schistosomiasis) * Trauma * Stones * Hypercalciuria * Tumours * Sickle cell disease * Bleeding disorders * Renal vein thrombosis

Question 608

List the causes for acute glomerulonephritis

Answer 608

Postinfectious glomerulonephritis Vasculitis * Henoch–Schönlein purpura * SLE * Microscopic polyarteritis * Polyarteritis nodosa IgA nephropathy Mesangiocapillary glomerulonephritis Anti-GBM disease (Goodpasture syndrome) Alport syndrome

Question 609

Give the definition for acute glomerulonephritis

Answer 609

Haematuria Proteinuria Temporary oliguria and uraemia Hypertension Oedema (periorbital, leg or sacral)

Question 610

Give the onset of post-streptococcal glomerulonephritis

Answer 610

1–3 weeks after a group A β-haemolytic streptococcus infection eg. S. pyogenes

Question 611

Give the investigations and findings in post-streptococcal glomerulonephritis

Answer 611

Blood culture Raised antistreptolysin O/anti-DNAse B titres Low complement C3 levels (return to normal after 3-4 weeks)

Question 612

List the renal biopsy features in post-streptococcal glomerulonephritis

Answer 612

acute, diffuse proliferative glomerulonephritis endothelial proliferation with neutrophils e- microscopy: subepithelial 'humps' caused by lumpy immune complex deposits immunofluorescence: granular or 'starry sky' appearance

Question 613

List the presentation for IgA vasculitis (Henoch-Schonlein purpura)

Answer 613

Palpable, non-blanching purpura on extensor surfaces Arthralgia Periarticular oedema Abdominal pain * Intussusception * Haematemesis and melaena Glomerulonephritis Associated gastrointestinal features: * Gastritis * Duodenitis * Gastrointestinal mucosal ulceration * Purpura

Question 614

List the investigations for IgA vasculitis (Henoch-Schonlein purpura)

Answer 614

FBC Serum IgA - elevated Blood pressure Early morning urinalysis * Haematuria * Urine PCR * eGFR

Question 615

Give the first line management in IgA vasculitis (Henoch-Schonlein purpura)

Answer 615

Oral prednisolone

Question 616

Give the renal biopsy finding in IgA vasculitis (Henoch-Schonlein purpura)

Answer 616

IgA deposition in the mesangial region

Question 617

Give the management options in IgA vasculitis (Henoch-Schonlein purpura)

Answer 617

Oral prednisolone (first line) Immunosuppressants * Azathioprine * Mycophenolate * IV cyclophosphamide ACEi - persistent proteinuria

Question 618

Give the underlying pathology for Alport’s syndrome

Answer 618

Type IV collagen abnormality Loss of the normal permselectivity of the GBM

Question 619

Give the most common inheritance in Alport’s syndrome

Answer 619

X-linked dominant

Question 620

List the presentations in Alport’s syndrome

Answer 620

Rare hereditary nephritis with: Haematuria Proteinuria Progressive kidney disease High-frequency sensorineural hearing loss Lenticonus Retinal abnormalities (maculopathy)

Question 621

List the presentation of Alport's syndrome with diffuse leiomyomatosis

Answer 621

(often in females) Childhood history of: * Cataracts * Dysphagia (esophageal leiomyomas) * Cough * Altered bowel habit (diffuse leiomyomatosis of the bowel wall) * Recurrent bronchitis (bronchial leiomyomas)

Question 622

List the presentation of Alport's syndrome with learning disability

Answer 622

Nephropathy with learning disability Midface hypoplasia Elliptocytosis

Question 623

Give the diagnostic criteria for Alport's syndrome

Answer 623

Positive family Hx of haematuria with/without progression to chronic renal failure Progressive sensorineural hearing loss Characteristic ocular changes * anterior lenticonus * maculopathy Typical ultrastructural changes in the GBM

Question 624

List the causes for hypertension in children

Answer 624

Renal * Renal parenchymal disease * Renal artery stenosis * Polycystic kidney disease * Renal tumours Coarctation of the aorta Catecholamine excess * Pheochromocytoma * Neuroblastoma Endocrine * Congenital adrenal hyperplasia * Cushing syndrome / corticosteroid therapy * Hyperthyroidism Essential hypertension

Question 625

How may hypertension present in children

Answer 625

Vomiting Headaches Facial palsy Hypertensive retinopathy Seizures Proteinuria Faltering growth Cardiac failure

Question 626

List the causes for unilateral renal mass

Answer 626

Multicystic dysplastic kidney Compensatory hypertrophy of normal kidney Obstructive hydronephrosis Renal tumour (Wilms tumour) Renal vein thrombosis

Question 627

List the causes for bilateral renal masses

Answer 627

Autosomal recessive polycystic kidneys Autosomal dominant polycystic kidneys Tuberous sclerosis Renal vein thrombosis

Question 628

List the predisposing causes for renal calculi

Answer 628

UTI (phosphate stones in Proteus infection) Structural anomalies of the urinary tract Metabolic abnormalities * Idiopathic hypercalciuria - calcium-containing stones * Nephrocalcinosis - hypercalciuria, hyperoxaluria, and distal renal tubular acidosis

Question 629

List the presentations for renal calculi

Answer 629

Haematuria Loin/abdominal pain UTI Passage of a stone

Question 630

List the renal tubular disorders of the proximal tubule

Answer 630

Glycosuria - reduced glucose reabsorption Cystinuria - reduced cystine and dibasic amino acid reabsorption Hyperuricosuria - reduced uric acid reabsorption Hypercalciuria - reduced calcium reabsorption Renal tubular acidosis type II - reduced bicarbonate reabsorption Vitamin D resistant rickets - reduced phosphate reabsorption Pseudohypoparathyroidism - increased phosphate reabsorption

Question 631

Give the pathophysiology in Bartter syndrome

Answer 631

Reduced chloride reabsorption in thick ascending limb loop of henle

Question 632

List the presentations in Bartter syndrome

Answer 632

Hypokalaemic metabolic alkalosis Hypercalciuria Normal blood pressure with increased renin Polydipsia and polyuria Faltering growth

Question 633

Give the pathophysiology of Fanconi syndrome

Answer 633

Defect of proximal tubule leading to malabsorption of various electrolytes and substances Excessive urinary loss of: * Amino acids * Glucose * Phosphate * Bicarbonate * Sodium, calcium, potassium, magnesium

Question 634

List the causes of Fanconi syndrome

Answer 634

Idiopathic Secondary to inborn errors of metabolism: * Cystinosis (autosomal recessive, intracellular accumulation of cystine) * Tyrosinemia * Galactosaemia * Fructose intolerance * Glycogen storage disorders * Lowe syndrome (oculocerebrorenal dystrophy) * Wilson disease Acquired * Drugs and toxins, e.g. gentamicin, amphotericin * Heavy metals

Question 635

Give the pRIFLE classification of AKI

Answer 635

Risk * Est creatinine clearance decreased by 25% * Urine output <0.5 ml/kg/hr for 8 hours Injury * Est creatinine clearance decreased by 50% * Urine output <0.5 ml/kg/hr for 16 hours Failure * Est creatinine clearance decreased by 75% OR <35 ml/min/1.73m2 * Urine output <0.3 ml/kg/hr for 24 hours OR anuric for 12 hours Loss - Persistent renal failure >4 weeks End stage - Persistent renal failure >3 months

Question 636

Give the KDIGO classification of AKI

Answer 636

Stage 1 * Serum creatinine increase 1.5~1.9x baseline / >27 micromol/L * Urine output < 0.5 ml/kg/hr for 6~12 hours Stage 2 * Serum creatinine increase 2.5~2.9x baseline * Urine output < 0.5 ml/kg/hr for >12 hours Stage 3 * Serum creatinine increase 3x baseline / >354 micromol/L * Initiation of RRT * eGFR < 35ml/min/1.73m2 * Urine output < 0.5 ml/kg/hr for >24 hours / anuric for >12 hours

Question 637

Give the management for metabolic acidosis in AKI

Answer 637

Sodium bicarbonate

Question 638

Give the management for Hyperphosphataemia in AKI

Answer 638

Calcium carbonate Dietary restriction

Question 639

Give the management for Hyperkalaemia in AKI

Answer 639

Calcium gluconate + Salbutamol (nebulized/IV) Glucose and insulin

Question 640

When is renal replacement therapy indicated

Answer 640

failure of conservative management hyperkalaemia severe hypo/hypernatraemia pulmonary oedema / severe hypertension (volume overload) severe metabolic acidosis multisystem failure

Question 641

Give the triad in haemolytic uraemic syndrome

Answer 641

Microangiopathic haemolytic anaemia (schistocytes) Thrombocytopenia Acute kidney injury

Question 642

Give the presentations of haemolytic uraemic syndrome

Answer 642

Abdominal pain + Bloody diarrhoea Nausea and vomiting Fatigue, pallor Bruising, petechiae Oliguria, oedema

Question 643

Give the most common cause of haemolytic uraemic syndrome

Answer 643

Shiga toxin-producing Escherichia coli

Question 644

Give one cause of infectious (non-Shiga toxin-related) haemolytic uraemic syndrome

Answer 644

Streptococcus pneumoniae

Question 645

List the secondary causes for haemolytic uraemic syndrome

Answer 645

Bone marrow transplant Ciclosporin Pregnancy

Question 646

List the investigations in haemolytic uraemic syndrome

Answer 646

FBC - anaemia, thrombocytopenia Peripheral blood smear - schistocytes Renal function - increased creatinine Serum electrolytes * Hyperkalaemia * Hypo/hypernatraemia * Acidosis (bicarbonate loss) * Hyperphosphatemia LDH - increased Haptoglobin - decreased Stool culture - Shiga toxin-producing E coli PCR - Shiga toxin

Question 647

List the roles of haptoglobin in haemolytic uraemic syndrome

Answer 647

Haptoglobin binds free haemoglobin released by the haemolysed red blood cells. Haptoglobin-haemoglobin complex is removed by the liver and spleen.

Question 648

Give the management of Shiga toxin-producing Escherichia coli (STEC) HUS

Answer 648

Avoidance of antibiotics, antimotility (antidiarrhoeal) agents, and NSAIDs Red cell transfusion, dialysis, and renal transplantation

Question 649

Give the pathophysiology of renal osteodystrophy

Answer 649

1. Decreased activation of vitamin D 2. Phosphate retention and hypocalcaemia 3. Secondary hyperparathyroidism 4. Results in osteitis fibrosa and osteomalacia of the bone.

Question 650

List the management in renal osteodystrophy

Answer 650

Phosphate restriction * Reduce dietary intake of milk products * Calcium carbonate (phosphate binder) Activated vitamin D supplementation

Question 651

List the CKD grading

Answer 651

Stage 1 - eGFR >90 Stage 2 - eGFR 60–89 Stage 3 - eGFR 30–59 Stage 4 - eGFR 15–29 Stage 5 - eGFR <15

Question 652

Which type of inguinal hernia protrudes through the deep inguinal ring

Answer 652

Indirect

Question 653

Which type of inguinal hernia is more common in children

Answer 653

Indirect

Question 654

List the causes for inguinal hernia

Answer 654

Congenital - persistently patent processus vaginalis Acquired * Dilation of the internal ring * Direct weakness of the posterior wall of the inguinal canal Connective tissue disorders * Marfan syndrome * Ehler-Danlos syndrome

Question 655

List the presentations for inguinal hernia

Answer 655

Palpable swelling in the groin visible during straining/coughing Intermittent bulge that disappears when lying flat Dragging sensation in the groin Discomfort during strenuous exercise/heavy lifting

Question 656

List the management for inguinal hernia

Answer 656

Gentle compression in the line of the inguinal canal with good analgesia Surgery

Question 657

List the complications for inguinal hernia

Answer 657

Incarceration Bowel obstruction Strangulation

Question 658

List the definition of anaemia in neonate, 1~12 months, and 1~12 years

Answer 658

Neonate - Hb <140 g/L 1~12 months - Hb <100 g/L 1~12 years of age - Hb <110 g/L

Question 659

List the causes of anaemia in children

Answer 659

Red cell aplasia * Parvovirus B19 infection * Diamond-Blackfan anaemia (congenital red cell aplasia) * Transient erythroblastopenia of childhood * Fanconi anaemia * Aplastic anaemia * Leukaemia Qualitatively abnormal erythropoiesis * Iron deficiency * Folic acid / vitamin B12 deficiency * Chronic inflammation (juvenile idiopathic arthritis) * Chronic renal failure * Myelodysplasia * Lead poisoning Increased haemolysis * Hereditary spherocytosis * Glucose-6-phosphate dehydrogenase deficiency * Thalassaemia, sickle cell disease * Haemolytic disease of the newborn * Autoimmune haemolytic anaemia Blood loss * Feto-maternal bleeding * Meckel diverticulum * von Willebrand disease

Question 660

List the complications of long-term blood transfusion in children

Answer 660

Iron deposition * Heart – cardiomyopathy * Liver – cirrhosis * Pancreas – diabetes * Pituitary gland – impaired growth and sexual maturation * Skin – hyperpigmentation Antibody formation Infection * Hepatitis A, B, C * HIV * Malaria * Prions (e.g. new variant Creutzfeldt–Jakob disease)

Question 661

List the causes for anaemia of prematurity

Answer 661

inadequate erythropoietin production reduced red cell lifespan frequent blood sampling in hospital iron and folic acid deficiency (after 2–3 months)

Question 662

What can reduce the risk of iron and folic acid deficiency in premature infants

Answer 662

Delayed cord clamping at birth

Question 663

List the main causes of iron deficiency in childhood

Answer 663

Inadequate intake * Delayed mixed feeding beyond 6 months in breast-fed infants * Insufficient iron-rich foods eg. cow’s milk Malabsorption - Coeliac disease Meckel diverticulum (Chronic blood loss)

Question 664

List the sources of iron during childhood

Answer 664

Breast milk (low iron content but 50% of the iron is absorbed) Infant formula (supplemented with adequate amounts of iron) Solids introduced at weaning, e.g. cereals (supplemented with iron but only 1% is absorbed)

Question 665

List the presentations for iron deficiency in childhood

Answer 665

Children tire easily Young infants feed more slowly than usual Pallor of the conjunctiva, tongue or palmar creases Pica

Question 666

List the management options for iron deficiency in childhood

Answer 666

Dietary advice Oral iron * Sodium iron edetate * Polysaccharide iron complex

Question 667

List the clinical presentation of congenital red cell aplasia (‘Diamond–Blackfan anaemia’)

Answer 667

Craniofacial abnormalities (webbed neck, cleft lip, shielded chest) Triphalangeal thumb Increased risks of malignancy

Question 668

What causes congenital red cell aplasia (‘Diamond–Blackfan anaemia’)

Answer 668

Mutations in ribosomal protein genes

Question 669

How is congenital red cell aplasia (‘Diamond–Blackfan anaemia’) inherited

Answer 669

Autosomal dominant

Question 670

List the management options for red cell aplasia

Answer 670

oral steroids monthly red cell transfusion stem cell transplantation

Question 671

What may transient erythroblastopenia of childhood be triggered by

Answer 671

Viral infections

Question 672

List the investigation findings in haemolytic anaemia

Answer 672

Anaemia with normal white cell count and platelet count Raised reticulocyte count (polychromasia) Abnormal blood film (spherocytes, sickle shaped, hypochromic) Splenohepatomegaly (extramedullary haemopoiesis) Unconjugated bilirubinemia and increased urinary urobilinogen Positive direct antiglobulin test in immune cause Increased red blood cell precursors in the bone marrow

Question 672

List the investigation findings in red cell aplasia

Answer 672

low reticulocyte count despite low Hb normal bilirubin negative direct antiglobulin test (Coombs test) absent red cell precursors on bone marrow examination

Question 673

Give the pathophysiology of Hereditary spherocytosis

Answer 673

Defects in membrane structural proteins eg. spectrin, ankyrin Loss of surface membrane area relative to volume Alters the red-cell shape (spherical) and reduces flexibility The spherocytes are fragile and are selectively destroyed in the spleen Increased rate of red-cell destruction typically results in: * Hyperbilirubinemia * Elevated reticulocyte count * Splenomegaly

Question 674

How is hereditary spherocytosis inherited

Answer 674

Autosomal dominant

Question 675

List the signs and symptoms for hereditary spherocytosis

Answer 675

Pallor Jaundice Splenomegaly Fatigue Aplastic crisis - caused by parvovirus B19 infection

Question 676

List the investigation findings in hereditary spherocytosis

Answer 676

Increased mean corpuscular haemoglobin concentration Reticulocytosis ± anaemia Spherocytes on the blood smear Negative direct antiglobulin test Increased osmotic fragility on acidified glycerol lysis test Abnormal eosin-5-maleimide binding test

Question 677

List the management options for hereditary spherocytosis

Answer 677

RBC transfusion for symptomatic anaemia Folic acid supplementation Splenectomy (>6 yrs) with preoperative vaccination regimen Post-splenectomy pneumococcal prophylaxis (penicillin 2/day for 3-5 years) Cholecystectomy / cholecystostomy

Question 678

What should patients undergoing splenectomy be immunised against

Answer 678

Streptococcus pneumoniae Haemophilus influenzae type b Meningitis ACWY, meningitis B

Question 679

What geographical regions is glucose-6-phosphate dehydrogenase deficiency common in

Answer 679

Common where malaria is or was common: * sub-Saharan Africa * Asia * Mediterranean region * Middle East

Question 680

How is glucose-6-phosphate dehydrogenase deficiency inherited

Answer 680

X-linked recessive

Question 681

Give the pathophysiology of glucose-6-phosphate dehydrogenase deficiency

Answer 681

G6PD is the rate-limiting enzyme in the pentose phosphate pathway. Essential for preventing oxidative damage to red cells. Red cells lacking G6PD are susceptible to oxidant-induced haemolysis.

Question 682

List the presentation for glucose-6-phosphate dehydrogenase deficiency

Answer 682

Prolonged/severe neonatal jaundice Acute haemolysis * Fever * Malaise * Abdominal pain * Dark urine

Question 683

List the precipitating factors for glucose-6-phosphate dehydrogenase deficiency

Answer 683

Infection Drugs * Sulphonamides (eg. co-trimoxazole) * Fluoroquinolones (ciprofloxacin) * Nitrofurantoin * Quinine * Chloroquine * Aspirin (high doses) * Sulfonylureas Food * Fava beans * Naphthalene in mothballs

Question 684

List the management options for glucose-6-phosphate dehydrogenase deficiency

Answer 684

Folic acid supplementation Erythropoietin Blood transfusion Dialysis

Question 685

List the investigations and findings in glucose-6-phosphate dehydrogenase deficiency

Answer 685

FBC and reticulocytes * Normochromic, normocytic anaemia * Increased mean corpuscular haemoglobin concentration * Elevated reticulocyte count Peripheral smear * Anisocytosis with bite cells * Heinz bodies (fragments of denatured haemoglobin) Complete metabolic panel * LFT: elevated unconjugated bilirubin, LDH, and transaminase * Renal dysfunction due to dehydration, haemoglobinuria * Low haptoglobin Urinalysis * Haemoglobinuria if intravascular haemolysis * Urobilinogen and protein Abdominal ultrasound * Splenomegaly * Gallstones

Question 686

What age group does transient erythroblastopenia of childhood occur?

Answer 686

In healthy children between 6 months and 5 years

Question 687

List the laboratory findings in congenital red cell aplasia (‘Diamond–Blackfan anaemia’)

Answer 687

Macrocytic anaemia Reticulocytopenia Normal platelets, white cells

Question 688

Give the presentations in aplastic anaemia. In which order do they occur?

Answer 688

Pancytopenia * Bruising * Infection * Anaemia 1. thrombocytopenia 2. neutropenia 3. anaemia

Question 689

Give the investigation and findings in aplastic anaemia

Answer 689

Bone marrow biopsy - hypocellular marrow with abundance of stromal and fat cells

Question 690

What is the most common inherited aplastic anaemia

Answer 690

Fanconi anaemia

Question 691

How is Fanconi anaemia inherited

Answer 691

Autosomal recessive X-linked recessive (2%)

Question 692

Give the pathophysiology in Fanconi anaemia

Answer 692

Mutations in FANC genes, most commonly FANCA Bone marrow failure due to selective destruction of CD34+ stem cells Impairs DNA repair

Question 693

List the presentations of Fanconi anaemia

Answer 693

Bone marrow failure Congenital anomalies * Short stature, microcephaly * Microphthalmia, strabismus * Low set ears, middle ear abnormalities (haemorrhage, incomplete development, chronic infections, deafness) * Abnormal radii and thumbs * Hypo/hyperpigmented macules, cafe au lait spots, large freckles * Renal malformations, hypogonadism

Question 694

List the complications from Fanconi anaemia

Answer 694

Death from bone marrow failure Transformation to acute leukaemia

Question 695

List the laboratory findings in Fanconi anaemia

Answer 695

Pancytopenia Increased chromosomal breakage of peripheral blood lymphocytes Genetic analysis of FANC genes

Question 696

Give the management in Fanconi anaemia

Answer 696

Bone marrow transplant

Question 697

How is Shwachman–Diamond syndrome inherited

Answer 697

Autosomal recessive

Question 698

Give the classic triad in Shwachman–Diamond syndrome

Answer 698

Bone marrow failure (isolated neutropenia/mild pancytopenia) Pancreatic exocrine failure Skeletal abnormalities

Question 699

Give one complication of Shwachman–Diamond syndrome

Answer 699

Transforming to acute leukaemia

Question 700

List investigations for bleeding disorders

Answer 700

Full blood count and blood film Prothrombin time (PT) * extrinsic and common pathways * elevated with deficiencies of factors II, V, X and VII Activated partial thromboplastin time (APTT) * intrinsic and common pathways * elevated with deficiencies of factors II, V, X, VIII, IX, XI and XII If PT or APTT prolonged, 50:50 mix with normal plasma will distinguish between factor deficiency or presence of inhibitor * If correct - coagulation factor deficiency. * If not correct - presence of an inhibitor eg. lupus anticoagulant. Thrombin time - deficiency or dysfunction of fibrinogen Quantitative fibrinogen assay D-dimers – fibrin degradation products Biochemical screen eg. renal and liver function tests

Question 701

Which coagulation factors and proteins are dependent on vitamin K?

Answer 701

Factors II, VII, IX, X Protein C Protein S

Question 702

List the acquired causes of coagulation disorders

Answer 702

Vitamin K deficiency Liver disease Immune thrombocytopenia Disseminated intravascular coagulation

Question 703

How are haemophilia A and B inherited

Answer 703

X-linked recessive

Question 704

What clotting factors are deficient in haemophilia A and B

Answer 704

Haemophilia A: deficiency of clotting factor VIII Haemophilia B: deficiency of clotting factor IX

Question 705

List the haemophilia staging by severity

Answer 705

Severe (<1% clotting factor level [CFL]): * Frequent spontaneous bleeding, particularly into joints and muscles * Severe bleeding with trauma and surgery Moderate (1~5% CFL): * Occasional spontaneous bleeding * Severe bleeding with trauma and surgery Mild (5~40% CFL) - Severe bleeding with trauma and injury

Question 706

What may acquired haemophilia occur in association with?

Answer 706

autoimmune disorders inflammatory bowel disease diabetes hepatitis pregnancy and the postnatal period malignancy monoclonal gammopathies certain drugs

Question 707

List the presentations for haemophilia

Answer 707

Recurrent or severe bleeding Bleeding in joints or muscles * warmth * erythema * limitation in range of motion Minor mucocutaneous bleeding * epistaxis * bleeding from gums following minor dental procedures * easy bruising Severe bleeding following trauma, surgery, or dental procedures GI bleeding Haematuria

Question 708

Give the complication of recurrent hemarthrosis

Answer 708

Haemophilic arthropathy Hemosiderin deposition in the joint triggers synovial inflammation, leads to fibrosis and destruction of cartilage and bone

Question 709

List the investigations for haemophilia

Answer 709

Prolonged activated partial thromboplastin time Factor VIII / IX assay - confirm diagnosis Mixing study

Question 710

List the management options for haemophilia

Answer 710

Factor replacement Desmopressin for mild haemophilia A

Question 711

List the functions of von Willebrand factor

Answer 711

link between platelets and exposed vascular subendothelium binds and stabilises coagulation factor VIII

Question 712

Which chromosome is VWF gene located on

Answer 712

Chromosome 12

Question 713

Give the classification of vWF disease

Answer 713

Type 1: quantitative deficiency of VWF Type 2: qualitative VWF defects Type 3: complete deficiency of VWF (more severe)

Question 714

List the acquired causes of vWF disease

Answer 714

Malignancy * Multiple myeloma * Monoclonal gammopathy * Lymphoma Autoimmune diseases

Question 715

List the inheritance pattern of vWF disease

Answer 715

Type 1 AD Type 2 AD Type 3 AR

Question 716

List the presentations in vWF disease

Answer 716

Mucocutaneous bleeding Joint bleeding Menorrhagia Postnatal haemorrhage

Question 717

List the management options for vWF disease

Answer 717

Type 1 - desmopressin Type 2 * desmopressin * antifibrinolytic therapy (Tranexamic acid, aminocaproic acid) Type 3 - vWF-containing concentrates

Question 718

List the laboratory findings in vWF disease

Answer 718

Normal PT Prolonged aPTT Reduced * factor VIII:C * vWF antigen * ristocetin cofactor activity Abnormal ristocetin-induced platelet aggregation

Question 719

List the severity grading for thrombocytopenia

Answer 719

Severe thrombocytopenia (platelets <20 × 10^9 /L) – risk of spontaneous bleeding Moderate thrombocytopenia (platelets 20–50 × 10^9 /L) – at risk of excess bleeding during operations or trauma but low risk of spontaneous bleeding Mild thrombocytopenia (platelets 50–150 × 10^9 /L) – low risk of bleeding unless there is a major operation or severe trauma.

Question 720

List the causes of thrombocytopenia

Answer 720

(Increased platelet destruction/consumption) Immune * Immune thrombocytopenic purpura * Systemic lupus erythematosus * Alloimmune neonatal thrombocytopenia Non-immune * Haemolytic uraemic syndrome * Thrombotic thrombocytopenic purpura * Disseminated intravascular coagulation * Congenital heart disease * Giant haemangiomas (Kasabach–Merritt syndrome) * Hypersplenism (Impaired platelet production) Congenital * Fanconi anaemia * Wiskott–Aldrich syndrome * Bernard–Soulier syndrome Acquired * Aplastic anaemia * Marrow infiltration (e.g. leukaemia) * Drug-induced

Question 721

List the causes of purpura or easy bruising with normal platelet count

Answer 721

Acquired platelet dysfunction * Uraemia * Cardiopulmonary bypass Congenital vascular disorders * Ehlers-Danlos * Marfan syndrome * Hereditary hemorrhagic telangiectasia Acquired vascular disorders * Meningococcal sepsis * Henoch–Schönlein purpura * Trauma * Scurvy

Question 722

Give the pathophysiology of immune thrombocytopenia

Answer 722

Formation of antiplatelet antibodies IgG against GPIIb/IIIa in the spleen

Question 723

List the causes of secondary immune thrombocytopenia

Answer 723

HIV Hepatitis C Helicobacter pylori Immunodeficiencies Immunological/autoimmune disorders * SLE * Evans' syndrome * Antiphospholipid syndrome * Autoimmune thyroid disease Lymphoproliferative disorders Drug-induced Vaccine exposure

Question 724

When does immune thrombocytopenia often present?

Answer 724

1 to 2 weeks after a viral infection or vaccination

Question 725

List the presentations for immune thrombocytopenia

Answer 725

(1~2 weeks after a viral infection or vaccination) Abrupt onset Bleeding * Petechiae - primarily on the lower limbs * Bruising * Hemorrhagic bullae * Bleeding gum Fatigue Intracranial bleeding

Question 726

Give the laboratory finding in immune thrombocytopenia

Answer 726

Isolated thrombocytopenia (<100,000/mm^3)

Question 727

Give the emergency management for immune thrombocytopenia

Answer 727

Corticosteroids (prednisolone) + IVIG + platelet transfusion

Question 728

Give the initial treatment for immune thrombocytopenia in newly diagnosed adults

Answer 728

Corticosteroid (prednisolone) IVIG Anti-D immunoglobulin

Question 729

List the secondary causes of venous thromboembolic events

Answer 729

Severe sepsis Dehydration Disseminated intravascular coagulation Catheter-related thrombosis Hypernatraemia Polycythaemia (e.g. congenital heart disease) Malignancy SLE Antiphospholipid syndrome

Question 730

List the congenital prothrombotic disorders (thrombophilias)

Answer 730

Protein C deficiency Protein S deficiency Antithrombin deficiency Factor V Leiden Prothrombin gene G20210A mutation

Question 731

List the presentations for thrombosis in children

Answer 731

Unanticipated / extensive venous thrombosis Ischaemic skin lesions Neonatal purpura fulminans (widespread haemorrhage and purpura into the skin)

Question 732

List the investigations for thrombosis in children

Answer 732

Assays for protein C and protein S Antithrombin assay Polymerase chain reaction (PCR) for factor V Leiden, and prothrombin gene mutation

Question 733

Give the pathophysiology of paroxysmal nocturnal haemoglobinuria

Answer 733

Absence of glycosylphosphatidylinositol-anchored proteins on the membrane surface of blood cells. Activation of complement on blood cells Cause continuous low-grade haemolysis and is exaggerated at night The resultant haemoglobinaemia readily binds nitric oxide in the tissues, resulting in smooth muscle contractions

Question 734

List the clinical presentations of paroxysmal nocturnal haemoglobinuria

Answer 734

Dark urine (haemoglobinuria) - often with infections or as paroxysms lasting 2 to 6 days Anaemia * Tiredness * Shortness of breath * Palpitations Thrombosis * Deep vein thrombosis * Cerebral / arterial thrombosis Budd-Chiari syndrome (hepatic venous thrombosis) * RUQ tenderness * Hepatomegaly * Ascites Nitric oxide deprivation * Abdominal pain * Oesophageal spasm - Odynophagia, Dysphagia * Erectile dysfunction * Pulmonary hypertension - Dyspnoea

Question 735

List the laboratory findings in paroxysmal nocturnal haemoglobinuria

Answer 735

FBC - anaemia, leukopenia, thrombocytopenia Intravascular haemolysis * Haemoglobinuria * Increased reticulocyte * Increased plasma lactate dehydrogenase * Increased unconjugated bilirubin * Low haptoglobin Negative Coombs test Urine dipstick - Haemoglobinuria Urine microscopy - Haemosiderinuria Thrombosis - increased D dimer Flow cytometry: >1~3% of anchor-deficient granulocytes

Question 736

Give the definitive diagnostic investigation for paroxysmal nocturnal haemoglobinuria

Answer 736

Flow cytometry

Question 737

List the treatments for paroxysmal nocturnal haemoglobinuria

Answer 737

Eculizumab and ravulizumab - C5 or C3 inhibition Iron and folate supplementation

Question 738

List the risk factors for HIV in infancy

Answer 738

High maternal viral load Breastfeeding by infected mother

Question 739

List the clinical features for HIV in pregnancy

Answer 739

Failure to thrive Chronic diarrhoea Lymphadenopathy Pneumocystis pneumonia

Question 740

List the investigations for HIV in pregnancy

Answer 740

DNA polymerase chain reaction testing Persistence of HIV antibody after age 18 months

Question 741

How is neonatal herpes simplex transmitted

Answer 741

Vertically transmitted

Question 742

List the clinical features for neonatal herpes simplex

Answer 742

Herpetic lesions (<2 weeks) * Mucocutaneous vesicles * Keratoconjunctivitis Meningoencephalitis (3~4 weeks) * Seizures, fever, lethargy * Temporal lobe haemorrhage/oedema Disseminated * Sepsis * Hepatitis * Pneumonia

Question 743

List the investigations for neonatal herpes simplex

Answer 743

Viral surface cultures HSV PCR

Question 744

List the treatments for neonatal herpes simplex

Answer 744

IV Acyclovir Elective C section if active disease

Question 745

Give the risk factor for congenital CMV

Answer 745

Maternal contact with infected bodily fluids eg. saliva

Question 746

Give the investigation for congenital CMV

Answer 746

Urine/saliva CMV PCR

Question 747

Give the treatment for congenital CMV

Answer 747

Ganciclovir / valganciclovir

Question 748

List the maternal risk factors for congenital toxoplasmosis

Answer 748

Raw/undercooked meat Unwashed produce (contaminated soil) Handling of cat faeces

Question 749

Give the investigation for congenital toxoplasmosis

Answer 749

Toxoplasma serology / PCR

Question 750

List the treatments for congenital toxoplasmosis

Answer 750

Pyrimethamine Sulfadiazine Folinic acid

Question 751

List the clinical presentations for phenylketonuria

Answer 751

Learning difficulties Seizures Microcephaly Hypopigmented skin Eczema Musty body odour

Question 752

List the treatments for phenylketonuria

Answer 752

Phenylalanine restricted diet Increase diet tyrosine (soy products, chicken, fish, milk) Tetrahydrobiopterin supplementation Avoid aspartame (artificial sweetener, contains phenylalanine)

Question 753

List the conditions detected by newborn blood spot screening

Answer 753

Cystic fibrosis Congenital hypothyroidism Haemoglobinopathies Phenylketonuria MCAD (medium chain acyl-CoA dehydrogenase deficiency) Glutaric aciduria type 1 Isovaleric acidaemia Homocystinuria Maple syrup urine disease

Question 754

List the clinical presentations for MCAD (medium chain acyl-CoA dehydrogenase deficiency)

Answer 754

Rapidly progressive encephalopathy Collapse after prolonged fast resulting in non-ketotic hypoglycemia and death if untreated

Question 755

Give the treatment for Phenylketonuria

Answer 755

Phenylalanine restricted diet Avoid aspartame (artificial sweetener, contains phenylalanine) Increase tyrosine in diet (soy products, chicken, fish, milk) Tetrahydrobiopterin supplementation

Question 756

Give the treatment for MCAD (medium chain acyl-CoA dehydrogenase deficiency)

Answer 756

Avoidance of fasting Emergency regimen

Question 757

Give the clinical presentation for Glutaric aciduria type 1 (GA1)

Answer 757

Macrocephaly with encephalopathic crisis aged 6–18 months resulting in dystonic-dyskinetic movement disorder

Question 758

Gove the management options for Glutaric aciduria type 1 (GA1)

Answer 758

Specialist diet Avoid fasting Daily carnitine

Question 759

List the clinical presentations for Isovaleric acidaemia

Answer 759

Metabolic acidosis ± hyperammonemia

Question 760

List the treatments for isovaleric acidaemia

Answer 760

Low protein diet Carnitine Glycine

Question 761

How is phenylketonuria inherited

Answer 761

Autosomal recessive

Question 762

List the treatment options for homocystinuria

Answer 762

Low protein diet Pyridoxine Folic acid

Question 763

How is homocystinuria inherited

Answer 763

Autosomal recessive

Question 764

List the clinical presentations for maple syrup urine disease

Answer 764

Progressive encephalopathy in first week of life Vomiting Poor feeding Urine smells like male syrup / burnt sugar

Question 765

List the management options for maple syrup urine disease

Answer 765

Low protein diet (restrict diet isoleucine, leucine, valine) Thiamine supplementation

Question 766

Give the pathophysiology for phenylketonuria

Answer 766

Reduced phenylalanine hydroxylase (PAH) Tetrahydrobiopterin (BH4) deficiency (cofactor for PAH) Increased phenylalanine cause increased phenyl ketones in urine

Question 767

Define phenylalanine embryopathy

Answer 767

Increased phenylalanine levels in pregnant patients with untreated PKU

Question 768

What does Phenylalanine embryopathy manifest as

Answer 768

foetal growth restriction microcephaly intellectual disability congenital heart defects

Question 769

Give the pathophysiology of maple syrup urine disease

Answer 769

Blocked degradation of branched amino acids (isoleucine, leucine, valine) due to decreased branched-chain α-ketoacid dehydrogenase (B1). Causes increased α-ketoacids in the blood

Question 770

What is the normal anion gap

Answer 770

10~16 mmol/L

Question 771

Give the formula for the calculation of anion gap

Answer 771

(Na+ + K+) - (Cl- + HCO3-)

Question 772

What conditions cause raised anion gap in children?

Answer 772

Diabetic ketoacidosis Renal failure Inborn errors of metabolism Poisoning with * Salicylate * Ethanol * Methanol * Paraldehyde

Question 773

List the clinical presentations for hyperammonemia

Answer 773

Encephalopathy * Asterixis (flapping tremor) * Speech slurring * Vision blurring * Somnolence * Vomiting * Seizures (cerebral oedema) Respiratory alkalosis (ammonia is a respiratory stimulant) Recurrent vomiting Unexplained severe illness

Question 774

List the management options for hyperammonemia

Answer 774

Stop feeds (reduce protein intake) Lactulose - acidify GI tract and trap NH4+ for excretion IV ammonia scavengers (sodium phenylbutyrate) + arginine Antibiotics (rifaximin) to reduce ammoniagenic bacteria Haemodialysis

Question 775

What's the most common urea cycle disorder

Answer 775

Ornithine transcarbamylase deficiency

Question 776

How is Ornithine transcarbamylase deficiency inherited

Answer 776

X-linked recessive

Question 777

List the laboratory findings in Ornithine transcarbamylase deficiency

Answer 777

Increased orotic acid in blood and urine Decreased blood urea nitrogen Hyperammonemia No megaloblastic anaemia (vs orotic aciduria)

Question 778

Name the rate limiting enzyme in urea cycle

Answer 778

Carbamoyl phosphate synthetase I

Question 779

Which kind of staining can identify glycogen on histology?

Answer 779

Periodic acid-Schiff stain

Question 780

Give the definition of hypoglycaemia in children

Answer 780

blood glucose < 2.6 mmol/L

Question 781

How are glycogen storage diseases inherited

Answer 781

Autosomal recessive

Question 782

List the clinical presentations for Von Gierke disease (glycogen storage disease type I)

Answer 782

Severe fasting hypoglycemia Increased glycogen in liver and kidneys (hepatomegaly, renomegaly) Increased blood lactate, triglycerides, uric acid (gout)

Question 783

What is the deficient enzyme in Von Gierke disease (glycogen storage disease type I)

Answer 783

Glucose-6-phophatase

Question 784

List the treatment options for Von Gierke disease (glycogen storage disease type I)

Answer 784

Frequent oral glucose/cornstarch Avoid fructose and galactose

Question 785

List the clinical presentations for Pompe disease (glycogen storage disease type II)

Answer 785

Cardiomyopathy Hypotonia Exercise intolerance Enlarged tongue Early death

Question 786

What is the deficient enzyme in Pompe disease (glycogen storage disease type II)

Answer 786

Lysosomal acid α-1,4-glucosidase (acid maltase)

Question 787

List the clinical presentations in Cori disease (glycogen storage disorder type III)

Answer 787

Milder form of type I with normal blood lactate Cardiomyopathy Hepatomegaly, cirrhosis, hepatic adenomas

Question 788

List the clinical presentations for Andersen disease (glycogen storage disorder type IV)

Answer 788

Failure to thrive in early infancy Hepatosplenomegaly, Infantile cirrhosis Muscular weakness, Hypotonia Cardiomyopathy Early childhood death

Question 789

What are the deficient enzymes in Cori disease (glycogen storage disorder type III)

Answer 789

Debranching enzymes (α-1,6-glucosidase and 4-α-d-glucanotransferase)

Question 790

What are the deficient enzymes in Andersen disease (glycogen storage disorder type IV)

Answer 790

Branching enzyme

Question 791

List the clinical presentations for McArdle disease (glycogen storage disease type V)

Answer 791

Painful muscle cramps (increased glycogen in muscle but muscle cannot break it down) Myoglobinuria (red urine) with strenuous exercise Arrhythmia (electrolyte abnormalities) Second-wind phenomenon

Question 792

What is the deficient enzyme in McArdle disease (glycogen storage disease type V)

Answer 792

Skeletal muscle glycogen phosphorylase (myophosphorylase)

Question 793

What are sphingolipidoses characterised by

Answer 793

accumulation of harmful quantities of glycosphingolipids and phosphosphingolipids

Question 794

Give the pathophysiology of mucopolysaccharidoses

Answer 794

enzymes needed to breakdown glycosaminoglycans are missing or don’t work properly

Question 795

List the lysosomal storage disorders

Answer 795

Sphingolipidoses * Tay-Sachs disease * Fairy disease * Metachromatic leukodystrophy * Krabble disease * Gaucher disease * Niemann-Pick disease Mucopolysaccharidoses * Hurler syndrome * Hunter syndrome

Question 796

List the clinical findings in Tay-Sachs disease

Answer 796

Progressive neurodegeneration Developmental delay Hyperreflexia Hyperacusis Cherry red spot on macula (lipid accumulation in ganglion cell layer) Lysosomes with onion skin on histology No hepatosplenomegaly

Question 797

Name the deficient enzyme in Tay-Sachs disease

Answer 797

Hexoaminidase A

Question 798

Name the accumulated substrate in Tay-Sachs disease

Answer 798

GM2 ganglioside

Question 799

How is Tay-Sachs disease inherited

Answer 799

Autosomal recessive

Question 800

List the clinical presentations in Fabry disease

Answer 800

Early - triad * episodic peripheral neuropathy * angiokeratoma * hyperhidrosis Late * progressive renal failure * cardiovascular disease

Question 801

Name the deficient enzyme in Fabry disease

Answer 801

alpha-galactosidase A

Question 802

Name the accumulated substrate in Fabry disease

Answer 802

Ceramide trihexoside

Question 803

How is Fabry disease inherited

Answer 803

X-linked recessive

Question 804

Give the clinical presentation in metachromatic leukodystrophy

Answer 804

Central and peripheral demyelination with ataxia, dementia

Question 805

Name the deficient enzyme in metachromatic leukodystrophy

Answer 805

Arylsulfatase A

Question 806

Name the accumulated substrate in metachromatic leukodystrophy

Answer 806

Cerebroside sulfate

Question 807

How is metachromatic leukodystrophy inherited

Answer 807

Autosomal recessive

Question 808

List the clinical presentations in Krabble disease

Answer 808

Peripheral neuropathy Destruction of oligodendrocytes Developmental delay CN II atrophy Globoid cells

Question 809

Name the deficient enzyme in Krabble disease

Answer 809

Galactocerebrosidase

Question 810

Name the accumulated substrate in Krabble disease

Answer 810

Galactocerebroside

Question 811

What is the most common lysosomal storage disorder

Answer 811

Gaucher disease

Question 812

How is Krabble disease inherited

Answer 812

Autosomal recessive

Question 813

List the presentations in Gaucher disease

Answer 813

Hepatosplenomegaly Pancytopenia Osteoporosis Avascular necrosis of femur Bone crises Gaucher cells (lipid-laden macrophages resembling crumpled tissue paper)

Question 814

Name the deficient enzyme in Gaucher disease

Answer 814

Glucocerebrosidase (beta-glucosidase)

Question 815

Name the accumulated substrate in Gaucher disease

Answer 815

Glucocerebroside

Question 816

How is Gaucher disease inherited

Answer 816

Autosomal recessive

Question 817

List the clinical presentations of Niemann-Pick disease

Answer 817

Progressive neurodegeneration Hepatosplenomegaly Foam cells (lipid-laden macrophages) Cherry-red spot on macula

Question 818

Name the deficient enzyme in Niemann-Pick disease

Answer 818

Sphingomyelinase

Question 819

Name the accumulated substrate in Niemann-Pick disease

Answer 819

Sphingomyelin

Question 820

How is Niemann-Pick disease inherited

Answer 820

Autosomal recessive

Question 821

List the clinical presentations in Hurler syndrome

Answer 821

Developmental delay Hirsutism Skeletal anomalies Airway obstruction Clouded cornea Hepatosplenomegaly

Question 822

Name the deficient enzyme in Hurler syndrome

Answer 822

alpha-L-iduronidase

Question 823

Name the accumulated substrates in Hurler syndrome and Hunter syndrome

Answer 823

Heparan sulfate Dermatan sulfate

Question 824

How is Hunter syndrome inherited

Answer 824

X-linked recessive

Question 825

List the clinical presentation of Hunter syndrome

Answer 825

Mild Hurler * Developmental delay * Hirsutism * Skeletal anomalies * Airway obstruction * Hepatosplenomegaly Aggressive behaviour No corneal clouding

Question 826

List the clinical features of MERRF (Myoclonic epilepsy with ragged red fibres)

Answer 826

Progressive myoclonic epilepsy Cerebellar ataxia Sensorineural deafness Short stature Cutaneous lipomas Myopathy Wolff-Parkinson-White syndrome Cardiomyopathy

Question 827

When do MERRF and MELAS typically onset

Answer 827

5~15 years

Question 828

List the clinical features for MELAS (Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes)

Answer 828

Recurrent episodes of encephalopathy, myopathy, headache, and focal neurological deficits Myopathy, migraine, vomiting, seizures, visual and hearing disturbance.

Question 829

Lise the clinical features for Alper's disease

Answer 829

Intractable seizures and liver involvement

Question 830

List the causes of hypoglycaemia in children

Answer 830

Neonatal hypoglycaemia Persistent hypoglycaemic hyperinsulinism of infancy Ketotic hypoglycaemia of childhood Inborn errors of metabolism * Glycogen storage disorders * Galactosaemia * Fatty acid oxidation defects Insulin excess * Exogenous insulin: diabetes mellitus, maternal diabetes, insulin given surreptitiously * Insulinoma * Drug-induced (sulphonylurea) * Autoimmune (insulin receptor antibodies) * Beckwith–Wiedemann syndrome Liver disease Hormonal deficiency * GH↓ * ACTH↓ * Addison disease * Congenital adrenal hyperplasia Drugs: alcohol, aspirin, beta blockers Sepsis

Question 831

What does Persistent hypoglycaemic hyperinsulinism of infancy cause

Answer 831

Profound non-ketotic hypoglycaemia

Question 832

List the clinical features in Beckwith–Wiedemann syndrome

Answer 832

Prenatal polyhydramnios Macrosomia Neonatal hypoglycemia (hyperinsulinemia) Macroglossia Cleft palate Anterior earlobe creases / posterior helical ear pits Facial nevus simplex Hemihyperplasia Cardiac anomalies Nephromegaly on imaging Kidney anomalies - medullary dysplasia, nephrocalcinosis, medullary sponge kidney Omphalocele Umbilical hernia / diastasis recti Embryonal tumour * Wilms tumour * Hepatoblastoma * Neuroblastoma * Rhabdomyosarcoma

Question 833

List the causes of congenital hypothyroidism

Answer 833

Thyroid agenesis Maldescent of the thyroid Dyshormonogenesis Maternal iodine deficiency TSH deficiency

Question 834

List the clinical features of congenital hypothyroidism

Answer 834

Usually asymptomatic and identified on screening Reduced feeding Faltering growth Prolonged jaundice Constipation Pale, cold, mottled dry skin Coarse facies Large tongue Hoarse cry Goitre (occasionally) Umbilical hernia Delayed development

Question 835

List the extra-pituitary features in congenital growth hormone deficiency

Answer 835

Optic nerve hypoplasia Midline forebrain defects Intellectual disability Neck abnormalities Cerebellar abnormalities Holoprosencephaly (syndromic hypopituitarism)

Question 836

List the risk factors for congenital growth hormone deficiency

Answer 836

Prematurity Gestational bleeding Complicated delivery Foetal distress Asphyxia

Question 837

What is the most common cause of acquired growth hormone deficiency in children

Answer 837

Craniopharyngioma

Question 838

List the clinical presentation of growth hormone deficiency in children

Answer 838

Poor growth, short stature in childhood Characteristic facial appearance and body habitus * Large head with frontal bossing * Small nose * Truncal obesity * Immature facies * Midfacial hypoplasia * Delayed dentition Reduced lean body mass and increased total body fat

Question 839

List the growth assessment findings in growth hormone deficiency in children

Answer 839

Short stature Proportionate (involving both the torso and the lower extremities equally) Typically with a high weight-to-height ratio

Question 840

How to calculate a child's target height

Answer 840

Girl = (height of mother in cm + height of father in cm)/2 - 6.5 cm Boy = (height of mother in cm + height of father in cm)/2 + 6.5 cm

Question 841

List the investigations in growth hormone deficiency

Answer 841

Bone age - radiograph of the left wrist and hand Thyroid function tests IGF1 and IGFBP3 - Values below -2 SD corrected for age and sex Pituitary function tests * 8am ACTH * cortisol * luteinising hormone, follicle-stimulating hormone * testosterone/oestradiol * prolactin Basic haematology and biochemistry screen GH provocation tests: GH <7 micrograms/L on two occasions

Question 842

Give the management option for growth hormone deficiency

Answer 842

Somatropin (Recombinant human growth hormone (rhGH)) * A rapid short-term growth is followed by normalisation of long-term growth. * Treatment should be continued until final height or epiphyseal closure is achieved

Question 843

List the indications for Somatropin (Recombinant human growth hormone (rhGH))

Answer 843

Growth hormone deficiency Turner's syndrome Intrauterine growth restriction (IUGR) Chronic renal failure Prader-Willi syndrome Idiopathic short stature SHOX deficiency

Question 844

List the causes for primary adrenal insufficiency

Answer 844

Congenital adrenal hyperplasia Addison’s disease (autoimmune) Haemorrhage/infarction (Waterhouse–Friedrichson disease) X-linked adrenoleukodystrophy Tuberculosis

Question 845

What is Waterhouse–Friedrichson disease caused by

Answer 845

Neonatal, meningococcal septicaemia

Question 846

List the presentations of primary adrenal insufficiency in infants

Answer 846

Salt-losing crisis Hypotension Hypoglycaemia

Question 847

List the presentation of primary adrenal insufficiency in older children

Answer 847

Vomiting Lethargy Hypoglycaemia Hyponatraemia Hyperkalaemia Dehydration Postural hypotension Metabolic acidosis Pigmentation (gums, scars, skin creases)

Question 848

Give the investigation and finding for primary adrenal insufficiency

Answer 848

ACTH (Synacthen) test - Plasma cortisol concentrations remain low

Question 849

Give the management option for adrenal crisis

Answer 849

IV 0.9% saline, glucose and hydrocortisone Stress doses of hydrocortisone during febrile illness, gastroenteritis, major trauma, surgery and endurance sport

Question 850

Give the long-term management in primary adrenal insufficiency

Answer 850

Glucocorticoid and mineralocorticoid replacement

Question 851

Give the pathophysiology of 21-hydroxylase deficiency in congenital adrenal hyperplasia

Answer 851

21-hydroxylase enzyme deficiency causes insufficient cortisol production, stimulating increased production of CRH and ACTH. High ACTH levels lead to adrenal hyperplasia and production of excess androgens (eg. delta-4-androstenedione), which do not require 21-hydroxylation for synthesis.

Question 852

What provocative agents can be used in growth hormone provocation tests

Answer 852

Insulin Glucagon Arginine Clonidine

Question 853

How is congenital adrenal hyperplasia inherited

Answer 853

Autosomal recessive

Question 854

Give the most and second most common cause of congenital adrenal hyperplasia

Answer 854

Mostly common cause = 21-hydroxylase deficiency (>90%) Second most common = 11-beta-hydroxylase deficiency

Question 855

List three types of presentations in 21-hydroxylase enzyme deficiency

Answer 855

Classical phenotype (severe form, with a defect in cortisol and aldosterone biosynthesis, 75%) Simple virilising (normal aldosterone biosynthesis, 25%) Non-classical phenotype

Question 856

List the presentation for the classical phenotype in 21-hydroxylase enzyme deficiency

Answer 856

Symptoms of excess androgen production Infants present with renal salt-wasting * Poor feeding * Weight loss * Failure to thrive * Vomiting, dehydration, hypotension * Hyponatraemia * Hyperkalemic metabolic acidosis progressing to adrenal crisis (azotaemia, vascular collapse, shock, and death)

Question 857

List the presentation for the simple virilising phenotype in 21-hydroxylase enzyme deficiency

Answer 857

Without salt wasting Diagnosis of a female made at birth - genital atypia * Clitoral enlargement * Partially fused labia majora * Urogenital sinus Diagnosis at birth in males usually depends on antenatal or newborn screening * Differentiation of the external genitalia is unaffected in newborn males * Hyperpigmentation (increased ACTH secretion) Signs of hyperandrogenism in children - tall children short adults * Early growth spurt: * Precocious puberty / early onset of facial, axillary, pubic hair * Adult body odour * Rapid somatic growth * Premature epiphyseal maturation and closure Signs of hyperandrogenism in adolescence/adult * Temporal balding * Severe acne * Hirsutism * Infertility Postmenarchal females * Menstrual irregularity * Secondary amenorrhoea with/without hirsutism

Question 858

List the presentation for the non-classical phenotype in 21-hydroxylase enzyme deficiency

Answer 858

Positive family history May present in a child as * Acne * Premature development of pubic hair * Accelerated growth * Advanced bone age * Reduced adult stature (premature epiphyseal fusion) Females are born with normal genitalia Adolescent and adult females may present with * Oligomenorrhea, amenorrhoea * Polycystic ovaries * Acne * Hirsutism * Temporal baldness * Infertility

Question 859

List three aromatase inhibitors

Answer 859

Anastrozole Letrozole Exemestane

Question 860

List three 17-alpha-hydroxylase inhibitors

Answer 860

Spironolactone Ketoconazole Abiraterone

Question 861

List the clinical presentations of 11-beta-hydroxylase deficiency

Answer 861

Hypertension (due to high 11-deoxycorticosterone) and hypokalaemia Hyperandrogenism * atypical genitalia in female infants * premature adrenarche in both sexes

Question 862

List the clinical presentations of 17-alpha-hydroxylase deficiency

Answer 862

Hypertension and hypokalemia Delayed puberty in females and under-virilisation in males No salt-wasting occurs.

Question 863

List the hormonal abnormalities in 21-hydroxylase deficiency

Answer 863

Low cortisol Low aldosterone Elevated 17-hydroxyprogesterone Elevated testosterone

Question 864

List the hormonal abnormalities in 11-beta-hydroxylase deficiency

Answer 864

Low cortisol Low aldosterone Elevated 11-deoxycorticosterone, 11-deoxycortisol Elevated testosterone

Question 865

List the hormonal abnormalities in 17-alpha-hydroxylase deficiency

Answer 865

Low cortisol Low androstenedione Elevated corticosterone Elevated mineralocorticoids

Question 866

List the management options for congenital adrenal hyperplasia

Answer 866

Lifelong glucocorticoids (hydrocortisone) Stress dosing of glucocorticoids Fludrocortisone (mineralocorticoid)

Question 867

List the male sex development pathway

Answer 867

SRY gene positive Sertoli cells produce anti-mullerian hormone Cause mullerian duct regression Leydig cells produce DHT from testosterone (5-alpha reductase) DHT converts genital primordial, genital tubercle, urethral folds, labioscrotal swelling into penis, penile urethra, scrotum Wolffian duct forms vas deferens, epididymis, seminal vesicles (testosterone)

Question 868

What does Mullerian duct give arise to in SRY negative?

Answer 868

Uterus Fallopian tube Upper 1/3 vagina

Question 869

List the secondary causes of disorders of sex development

Answer 869

Congenital adrenal hyperplasia - virilisation in 46XX Gonadotropin insufficiency * Prader–Willi syndrome * Congenital pituitary dysfunction Under-virilisation of 46XY male * Androgen insensitivity syndrome * 5α-reductase deficiency (inability to convert testosterone to dihydrotestosterone) * Abnormalities of the synthesis of androgens from cholesterol Ovotesticular DSD (true hermaphroditism)

Question 870

List the hormonal studies in disorders of sex development

Answer 870

21 hydroxylase deficiency - Elevated 17 hydroxyprogesterone levels + salt wasting Testosterone and dihydrotestosterone (DHT) * High testosterone:DHT ratio = 5 alpha-reductase deficiency * Low testosterone:androstenedione ratio = 17 beta-hydroxysteroid-dehydrogenase deficiency LH and FSH - Hypogonadotrophic hypogonadism ACTH stimulation test hCG stimulation test - ability of Leydig cells to respond to hCG (an LH receptor analogue) and produce testosterone. Anti-mullerian hormone - assess Sertoli's cell function in suspected 46,XY DSD

Question 871

List the childhood cancers by descending frequency

Answer 871

Leukaemia Brain/spinal tumours Lymphoma Neuroblastoma Soft tissue sarcoma Wilm's tumour Bone tumours Retinoblastoma

Question 872

List the brain tumour types in children by anatomical locations

Answer 872

Supratentorial - astrocytoma (cortex) Midline - craniopharyngioma Infratentorial * Cerebellar - medulloblastoma, astrocytoma, ependymoma * Brainstem - brainstem glioma Spinal cord - astrocytoma, ependymoma

Question 873

List the clinical signs of a supratentorial tumour in children

Answer 873

Seizures Hemiplegia Focal neurological signs

Question 874

List the clinical signs of a midline tumour in children

Answer 874

Visual field loss - bitemporal hemianopia Pituitary failure * Growth failure * Diabetes insipidus * Weight gain

Question 875

List the clinical signs of a cerebellar/IV ventricle tumour in children

Answer 875

Truncal ataxia Coordination difficulties Abnormal eye movements

Question 876

List the clinical signs of a brainstem tumour in children

Answer 876

Cranial nerve defects Pyramidal tract signs Ataxia Often NO raised intracranial pressure

Question 877

What is the most common malignant brain tumour of childhood

Answer 877

Medulloblastoma

Question 878

Where does medulloblastoma arise ?

Answer 878

Cerebellar vermis (primitive neuroepithelial cells)

Question 879

List the presentations of Medulloblastoma

Answer 879

Obstructive hydrocephalus - headaches and vomiting classically occur in the morning and get better during the day Diplopia Metastatic disease in the spinal cord * Back pain * Weakness * Bowel / bladder dysfunction

Question 880

Describe the age incidence in craniopharyngioma

Answer 880

Bimodal age incidence - 50% in children aged 5~14 years and a second peak in adults 50~70 years.

Question 881

Where does craniopharyngioma arise from

Answer 881

The squamous remnant of Rathke's pouch

Question 882

List the presentations for craniopharyngioma

Answer 882

Raised intracranial pressure with accompanying hydrocephalus * Headache, nausea, vomiting * Diplopia * Decreased level of consciousness Visual loss Endocrine disturbance * Growth hormone deficiency (growth failure) * Diabetes insipidus (polyuria, polydipsia) * Hypogonadotropic hypogonadism (amenorrhoea, erectile dysfunction) * Galactorrhoea * Hypocortisolism (muscle weakness, fatigue) * Hypothyroidism (fatigue, cold intolerance, constipation)

Question 883

Where does neuroblastoma arise from

Answer 883

Arises from the embryological neural crest element of the peripheral sympathetic nervous system Can form anywhere that sympathetic nervous tissue is present, including paraspinal sympathetic ganglia in the chest and abdomen. Most commonly arises from the adrenal gland

Question 884

What is the most common extra cranial solid tumour in children

Answer 884

Neuroblastoma

Question 885

Where is neuroblastoma most commonly found

Answer 885

Adrenal gland

Question 886

Which age is neuroblastoma most commonly diagnosed by

Answer 886

5 years

Question 887

What conditions are neuroblastoma associated with

Answer 887

(Associated with conditions related to aberrant neural crest development) Turner's syndrome Hirschsprung's disease Congenital central hypoventilation syndrome Neurofibromatosis type 1

Question 888

List the clinical presentations of neuroblastoma

Answer 888

Abdominal distention (large abdominal mass) Hypertension * mass effect to the renal vasculature * tumour-associated catecholamine secretion Constipation Intractable secretory diarrhoea due to tumour secretion of vasoactive intestinal protein (VIP) General systemic symptoms * Decreased appetite * Weight loss * Fussiness (in infants) * Fatigue * Abdominal, bone, or back pain Primary lesion in the upper portion of the thoracic outlet or cervical sympathetic chain: * Horner's syndrome (ptosis, miosis, anhidrosis) * Superior vena cava syndrome (dyspnoea, facial swelling, cough, distended neck/chest veins, oedema of the upper extremities)

Question 889

List the common sites of metastasis in neuroblastoma

Answer 889

Lymph nodes Bone marrow - pallor, infections, bleeding (pancytopenia) Bone Liver - hepatomegaly Skin - palpable subcutaneous skin nodules Orbits - periorbital ecchymosis (panda eyes) Dura

Question 890

Name one paraneoplastic syndrome associated with neuroblastoma. What does it present with?

Answer 890

Opsoclonus-myoclonus ataxia Rapid dancing eye movements Rhythmic jerking of limbs/trunk Ataxia

Question 891

List the investigations and findings in neuroblastoma

Answer 891

Catecholamine degradation products in the urine * homovanillic acid (HVA) * vanillylmandelic acid (VMA) Abdominal ultrasound Abdominal CT / MRI

Question 892

List the presentations of Wilms’ tumour (nephroblastoma)

Answer 892

Unilateral, painless, abdominal/flank mass Pallor (anaemia from haemorrhage into mass) Abdominal pain Fever Haematuria (visible / non-visible) Poor appetite Weight loss Congenital syndromes Congenital urogenital anomalies

Question 893

Give the first line investigation and findings for Wilm's tumour

Answer 893

Abdominal ultrasound - intrinsic renal mass distorting the normal structure

Question 894

What is the most common site for soft tissue sarcoma

Answer 894

Head and neck

Question 895

List the causes of soft tissue sarcoma

Answer 895

Human herpesvirus-8 (HHV-8) infection, History of HIV infection - Kaposi’s sarcoma Long-standing lymphoedema - Stewart-Treves angiosarcoma Vinyl chloride - angiosarcoma Beckwith-Wiedemann syndrome (Rhabdomyosarcoma, Myxoma, Fibromas, Hamartomas) Radiation exposure Rare genetic syndromes * Li-Fraumeni * Retinoblastoma syndrome * Neurofibromatosis * Desmoid tumours

Question 896

List the presentations of head and neck sarcoma

Answer 896

Proptosis Nasal obstruction Blood-stained nasal discharge

Question 897

List the presentations of Genitourinary sarcoma

Answer 897

Dysuria and urinary obstruction Scrotal mass Blood-stained vaginal discharge

Question 898

List the presentations for Karposi sarcoma

Answer 898

Purplish macular-papular lesions History of HIV infection

Question 899

What mutation is retinoblastoma associated with

Answer 899

germline mutation in the RB1 gene

Question 900

What age group does retinoblastoma most commonly present

Answer 900

Under 3 years

Question 901

List the presentations of retinoblastoma

Answer 901

Leukocoria (white pupillary reflex) Hypopyon (tumour cells anterior to the iris) Strabismus Glaucoma Ocular pain Decreased vision Pseudo-orbital cellulitis Exudative retinal detachment with vitreous seeding

Question 902

List the presentations of 13q syndrome

Answer 902

Retinoblastoma Mental and growth retardation Cranio-facial dysmorphisms Hand and foot anomalies Defects of the brain, heart, and kidneys

Question 903

Give the fundoscopy finding in retinoblastoma

Answer 903

Chalky, white-grey retinal mass

Question 904

Give the genetic mechanism of Langerhans cell histiocytosis

Answer 904

Activating mutations of the mitogen-activated protein kinase (MAPK) pathway, in particular BRAF V600E

Question 905

What are Langerhan cells

Answer 905

epidermal dendritic cells that present antigen to, and activate, antigen-specific T lymphocytes.

Question 906

List the cardinal features for Langerhans cell histocytosis

Answer 906

Lytic bone lesions (skull, jaw, femur) Skin lesions (purplish papules, eczematous rash) Lymphadenopathy, hepatosplenomegaly Pulmonary cysts / nodules Central diabetes insipidus

Question 907

List the investigations for Langerhans cell histiocytosis

Answer 907

Skeletal radiograph - Punched-out lytic lesion, most commonly in the skull Chest X-ray * Cysts may be visible within the infiltrates, predominating in the middle and upper lung fields, and sparing the costophrenic angles * Pneumothorax * Lytic lesion in a rib CT/MRI * Full-body (vertex to toes) fluorodeoxyglucose positron emission tomography - disease staging Tissue biopsy

Question 908

Define febrile seizures. What age group do they occur in?

Answer 908

Seizure accompanied by fever (temperature more than 38°C by any method), without central nervous system infection. Occurs in infants and children aged 6 months to 6 years.

Question 909

Define simple and complex febrile seizures

Answer 909

Simple febrile seizures Isolated, generalised, tonic-clonic seizures Last less than 15 mins Do not recur within 24 hours or within the same febrile illness Complete recovery within 1 hour Complex febrile seizures - one or more of: Focal seizure (movement limited to one side of the body or one limb) Duration of more than 15 minutes Recurrence within 24 hours or within the same febrile illness Incomplete recovery within 1 hour

Question 910

Define febrile status epilepticus

Answer 910

Febrile seizure lasts for 30 minutes or longer, or there are a series of seizures without full recovery in between that last for 30 minutes or longer.

Question 911

List the management options for febrile seizures

Answer 911

Buccal midazolam * 6–11 months of age: 2.5 mg. * 1–4 years of age: 5 mg. * 5–9 years of age: 7.5 mg. Rectal diazepam * 6 months to 1 year of age: 5 mg. * 2–11 years of age: 5–10 mg.

Question 912

How is spinal muscular atrophy inherited

Answer 912

Autosomal recessive

Question 913

What is spinal muscular atrophy due to?

Answer 913

Mutations in SMN1 (survival motor neurone) gene

Question 914

List the presentations of spinal muscular atrophy

Answer 914

Diminished foetal movements during pregnancy Arthrogryposis (positional deformities of the limbs with contractures of at least two joints) at birth Alert expression Fasciculation of the tongue Symmetrical flaccid paralysis Absent deep tendon reflexes Intercostal recession Weakness of bulbar muscles causing weak cry and poor suck with pooling of secretions

Question 915

How is dystrophia myotonica type 1 inherited

Answer 915

Autosomal dominant

Question 916

What is Dystrophia myotonica type I due to

Answer 916

Nucleotide triplet repeat expression CTG in the DMPK gene Anticipation

Question 917

Define Myotonia

Answer 917

Delayed relaxation after sustained muscle contraction.

Question 918

What is death in Dystrophia myotonica type I usually due to

Answer 918

Cardiac conduction defects

Question 919

List the presentations for Dystrophia myotonica type I

Answer 919

Newborns * Hypotonia * Feeding and respiratory weakness * Thin ribs * Talipes at birth * Oligohydraminos and reduced foetal movements during pregnancy Old children * Myopathic facial appearance * Learning difficulties * Myotonia Adults * Cataracts * Baldness * Testicular atrophy * Type II diabetes

Question 920

List the causes for central hypotonia

Answer 920

Cerebral lesions * Hypoxic-ischaemic encephalopathy * Intracranial haemorrhage Metabolic disorders * Hypothyroidism * Inborn errors of metabolism Chromosomal * Trisomy 21 * Prader-Willi syndrome

Question 921

List the causes for peripheral hypotonia

Answer 921

Spinal muscular atrophy type 1 Neonatal myasthenia gravis Congenital myopathies Myotonic dystrophy

Question 922

List the clinical features for central hypotonia

Answer 922

Global hypotonia Weak / absent antigravity movements (severe muscle weakness) Reduced tendon reflexes

Question 923

List the clinical features in Friedreich ataxia

Answer 923

Worsening ataxia Dysarthria Distal wasting in the lower limbs Absent reflexes Pes cavus Impairment of joint position and vibration sense (posterior-column impairment) Extensor plantars (pyramidal involvement) Optic atrophy Kyphoscoliosis Diabetes mellitus Hypertrophic cardiomyopathy

Question 924

List the open and closed spina bifida defects

Answer 924

Open spina bifida Myelomeningocele - herniation of both meninges and spinal cord. Myeloschisis - herniation of meninges and spinal elements. Meningocele - herniation of the meninges without involvement of spinal elements. Closed spina bifida Occult spinal dysraphism - spinal defects that are associated with a visible abnormality of the back Spina bifida occulta - skin covered with no visible abnormalities of the back

Question 925

What is Myelomeningocele associated with

Answer 925

hydrocephalus and Chiari II malformation

Question 926

List the investigation findings in spina bifida and neural tube defects

Answer 926

Typically diagnosed by antenatal ultrasound in the second and third trimester Antenatal triple/quadruple test - elevated * AFP (alpha-fetoprotein) * hCG (human chorionic gonadotropin) * uE3 (unconjugated estriol) * inhibin A

Question 927

List the presentations of Myelomeningocele

Answer 927

variable paresis of the lower limbs with hypotonia muscle imbalance, which may cause dislocation of the hip and talipes sensory loss bladder denervation (neuropathic bladder) bowel denervation (neuropathic bowel) scoliosis hydrocephalus from the associated Chiari type 2 malformation

Question 928

List the causes of hydrocephalus in children

Answer 928

Obstructive hydrocephalus (obstruction in the ventricular system) Congenital anomaly * Aqueduct stenosis * Chiari malformation Posterior fossa neoplasm / vascular malformation Intraventricular haemorrhage in preterm infant Communicating hydrocephalus (failure to reabsorb CSF) Subarachnoid haemorrhage Meningitis

Question 929

List 5 neurocutaneous syndromes

Answer 929

NF1 NF2 Tuberous sclerosis Sturge–Weber syndrome Von Hippel-Lindau disease

Question 930

What is the common embryological origin for the nervous system and the skin?

Answer 930

Ectoderm

Question 931

How is NF1 inherited. Describe the genetic defect

Answer 931

AD Mutation in NF1 tumour suppressor gene on chromosome 17 - encodes neurofibromin, a negative RAS regulator

Question 932

List the cardinal features for NF1

Answer 932

Café au lait spots Intellectual disability Cutaneous neurofibromas Lisch nodules (pigmented iris hamartomas) Optic pathway gliomas Pheochromocytomas Seizures / focal neurological signs Bone lesions eg. sphenoid wing dysplasia

Question 933

How is NF2 inherited. Describe the genetic defect

Answer 933

Autosomal dominant Mutation in NF2 tumour suppressor gene (merlin) on chromosome 22

Question 934

List the cardinal features in NF2

Answer 934

Bilateral vestibular schwannomas Meningiomas Ependymomas Juvenile cataracts

Question 935

How is tuberous sclerosis inherited. Describe the genetic defect

Answer 935

Autosomal dominant Mutations in either * TSC1 gene, found on chromosome 9 (hamartin), or * TSC2 gene, found on chromosome 16 (tuberin)

Question 936

List the clinical presentations in tuberous sclerosis

Answer 936

Neurocutaneous features * Dental pits * Hypopigmented macules (ash leaf spots) * Facial angiofibromas * Ungual fibromas Epilepsy (infantile spasms) Autism and cognitive impairment Neonatal cardiac rhabdomyomas Polycystic kidney disease Renal angiomyolipoma Cerebral subependymal calcified nodules or giant cell astrocytoma Retinal hamartoma Forehead plaques

Question 937

List the clinical features of Sturge–Weber syndrome

Answer 937

Port-wine stain in the ophthalmic division of the trigeminal nerve Ipsilateral leptomeningeal angioma with calcifications Ipsilateral glaucoma (increased intraocular pressure from episcleral hemanioma) Epilepsy Intellectual disability Contralateral hemiplegia

Question 938

How is Von Hippel-Lindau disease inherited. Describe the genetic defect

Answer 938

Autosomal dominant Deletion of VHL gene on chromosome 3p. pVHL ubiquitinates hypoxia- inducible factor 1a

Question 939

List the clinical features in Von Hippel-Lindau disease

Answer 939

Hemangioblastomas (high vascularity with hyperchromatic nuclei) in retina, brainstem, cerebellum, spine Angiomatosis Bilateral Renal cell carcinomas Pheochromocytomas

Question 940

Give the seizure pattern of infantile spasms (West syndrome) and age of onset.

Answer 940

Violent flexor spasms of the head, trunk, and limbs followed by extension of the arms, last 1–2 s, often multiple bursts of 20–30, often on waking or many times a day. Onset: 3–12 months

Question 941

Give the seizure pattern of Lennox–Gastaut syndrome and age of onset.

Answer 941

Multiple seizure types, mostly atonic, subtle absences, and tonic seizures in sleep. Onset: 1–3 years

Question 942

Give the seizure pattern of Epilepsy with centro-temporal spikes (childhood rolandic epilepsy) and age of onset.

Answer 942

Tonic–clonic seizures in sleep, or simple focal seizures with awareness of abnormal feelings in the tongue and distortion of the face. Onset: 4–10 years

Question 943

Give the seizure pattern of Juvenile absence epilepsy and age of onset.

Answer 943

Absences, and generalised tonic–clonic seizures, often with photosensitivity. Onset: 10–20 years

Question 944

Give the seizure pattern of Juvenile myoclonic epilepsy and age of onset.

Answer 944

Myoclonic seizures, generalised tonic–clonic seizures, and absences may occur, mostly shortly after waking. Typical history: throwing drinks or cereal about in the morning as myoclonus occurs at this time. Onset: 10-20 years

Question 945

What is Reye's syndrome classically associated with

Answer 945

Aspirin

Question 946

Give the pathophysiology for Reye's syndrome

Answer 946

Hepatic mitochondrial injury causing elevated ammonia levels. Hyperammonemia may induce astrocyte edema resulting in diffuse cerebral edema and subsequent elevated intracranial pressure.

Question 947

Give the diagnostic criteria for Reye's syndrome

Answer 947

Acute, non-inflammatory encephalopathy with either * sterile CSF containing <9 WBC/mL or * cerebral oedema without inflammatory cell infiltrate Hepatic dysfunction by either * threefold elevation of serum glutamic-oxaloacetic transaminase (SGOT), serum glutamic-pyruvic transaminase (SGPT) and/or serum ammonia, or * liver biopsy demonstrating fatty infiltration There is no other diagnosis to account for the cerebral and hepatic derangement.

Question 948

List the aetiologies for Reye's syndrome

Answer 948

Aspirin Viral infections (most common) * Influenza A and B * Varicella * Coxsackie * Epstein barr virus * Adenovirus * Gastroenteritis Exogenous toxins Drugs Inborn errors of metabolism

Question 949

What's the most common cause of Reye's syndrome?

Answer 949

Viral infection

Question 950

List the presentations for Reye's syndrome

Answer 950

Vomiting and confusion with rapid progression to coma and death

Question 951

When does signs and symptoms of Reye's syndrome typically present after viral infections?

Answer 951

Typically develop 12 hours ~ 3 weeks after recovery from a viral illness eg. URTI or gastroenteritis. Vomiting occurs between 3 and 6 days after a viral illness.

Question 952

Define Juvenile idiopathic arthritis

Answer 952

A collection of chronic paediatric inflammatory arthritides characterised by onset before 16 years of age and the presence of objective arthritis (in one or more joints) for at least 6 weeks.

Question 953

What can cause Potter sequence

Answer 953

Early obstruction of urinary tract (renal agenesis mostly)

Question 954

List the characteristics in orotic aciduria

Answer 954

Orotic acid in urine Megaloblastic anaemia Absence of hyperammonemia

Question 955

Give the pathophysiology in Kallman's syndrome

Answer 955

Hypogonadotrophic hypogonadism Failure of GnRH-secreting neurons to migrate to the hypothalamus.

Question 956

Give the inheritance in Kallman's syndrome

Answer 956

X-linked recessive

Question 957

Give the stereotypical history in Kallman's syndrome

Answer 957

lack of smell (anosmia) in a boy with delayed puberty

Question 958

List the features in Kallman's syndrome

Answer 958

Features 'Delayed puberty' Hypogonadism, cryptorchidism Anosmia Sex hormone levels are low LH, FSH levels are inappropriately low/normal Patients are typically of normal/above average height

Question 959

What causes Roseola infantum Incubation period? Ages affected?

Answer 959

human herpes virus 6 (HHV6) incubation period 5-15 days, typically affects children aged 6 months to 2 years.

Question 960

List the features of human herpes virus 6 (HHV6)

Answer 960

High fever lasting a few days, followed by a maculopapular rash Nagayama spots: papular enanthem on the uvula and soft palate Febrile convulsions in ~10-15% Diarrhoea, cough aseptic meningitis hepatitis

Question 961

What is hand, foot, and mouth disease most commonly caused by

Answer 961

(Picornaviridae family) * Coxsackie A16 * Enterovirus 71

Question 962

What is the investigation of choice for reflux nephropathy

Answer 962

Micturating cystography

Question 963

What is the first line therapy for treatment of threadworm

Answer 963

Mebendazole

Question 964

List the clinical features in hand, foot, and mouth disease

Answer 964

Mild systemic upset: sore throat, fever Oral ulcers Followed by vesicles on the palms and soles of the feet

Question 965

What is parallel aorta and pulmonary trunk on echocardiography indicative of

Answer 965

Transposition of the great arteries

Question 966

What should be given in duct dependent congenital heart disease?

Answer 966

Prostaglandin E1

Question 967

What is early onset neonatal sepsis most commonly caused by

Answer 967

Group B streptococcus infection

Question 968

What is the number one cause of painless massive GI bleeding requiring transfusion in children between ages 1~2 years

Answer 968

Merkels diverticulum

Question 969

Describe the inheritance in G6PD

Answer 969

X linked recessive

Question 970

List the risk factors for sudden infant death syndrome

Answer 970

Prone sleeping Parental smoking Bed sharing Hyperthermia and head covering Prematurity

Question 971

Define neonatal death

Answer 971

babies dying between 0-28 days of birth

Question 972

What should be given for Meningitis in children < 3 months

Answer 972

IV amoxicillin + cefotaxime to cover for Listeria

Question 973

What may hand preference before 12 months indicate

Answer 973

cerebral palsy

Question 974

What is the most appropriate management of a neonate to reduce hypoxic ischemic encephalopathy (HIE)?

Answer 974

Therapeutic cooling

Question 975

What complications are associated with undescended testicles

Answer 975

infertility torsion testicular cancer

Question 976

Give the algorithm in paediatric basic life support

Answer 976

15 compressions at a rate of 100 - 120 per minute and a depth of one-third of the chest : 2 breaths

Question 977

When is pure tone audiometry typically performed

Answer 977

School-age children on their entry to school around 3-4 years of age.

Question 978

What should be trailed if a formula-fed baby is suspected of having mild-moderate cow's milk protein intolerance

Answer 978

extensive hydrolysed formula

Question 979

What is the most common cause of childhood hypothyroidism in the United Kingdom?

Answer 979

Autoimmune thyroiditis

Question 980

What is the most common cause of paediatric arrest

Answer 980

Respiratory arrest (hypoxia)

Question 981

What is the commonest cause of stridor in children

Answer 981

Laryngomalacia

Question 982

When can a child with scarlet fever return to school

Answer 982

24 hours after commencing antibiotics