Paediatrics PTS

Question 1

What are the 4 fields of development?

Answer 1

Gross motor

Fine motor and vision

Speech, hearing and language

Social, emotional and behavioural

Question 2

What is the difference between median age and limit age for developmental milestones?

Answer 2

The median age is when half of a standard population of children reach that level of development

The limit age is the age a child is expected to have acquired a particular skill/reached a particular milestone

Limit age is usually 2 standard deviations from the mean

Question 3

What are the median and limit ages for walking?

Answer 3

Median – 12 months

Limit – 18 months

Question 4

How should you adjust developmental milestones for prematurity?

Answer 4

Age correct up to 2 years of age

For example a 9 month old baby who was born 2 months early – should only be expected to be at the developmental stage of a 7 month old

Question 5

Should vaccinations also be adjusted for prematurity?

Answer 5

No

Vaccinations must be given according to chronological age

Babies born < 28 weeks should receive their first set of immunisations in hospital due to risk of apnoea

Question 6

What are the primitive reflexes?

Answer 6

Moro – startle – symmetrical extension and flexion of the limbs if you suddenly lower them backwards
Grasp – grabbing and object placed in their hand
Rooting – turning head towards stimulus placed near mouth
Stepping
Positive supporting reflex (legs push up against gravity when placed)
Atonic neck reflex

Question 7

When should the primitive reflexes have diminished by?

Answer 7

4-6 months

If they haven’t – could be a sign of cerebral palsy

Question 8

When should a baby be able to sit unsupported?

Answer 8

6 months

Question 9

When should a child be able to make a mature pincer grip?

Answer 9

10 months

Question 10

When should a child be able to draw a line, circle, cross, square and triangle?

Answer 10

Line – 2 years
Circle – 3 years
Cross – 4 years
Square – 4.5 years
Triangle - <5 years

NB – these drawing skills are being able to draw without being shown how it’s done, they can copy (draw after being shown) 6 months earlier

Question 11

When should a child start to express a 2-3 words in addition to mama and dada?

Answer 11

12 months

Question 12

When should a child be able to talk in sentences?

Answer 12

2.5 – 3 years

Question 13

At what age should a child start smiling?

Answer 13

6 weeks

Question 14

At what age should a child be toilet trained during the day?

Answer 14

2 years

Question 15

At what age do children start playing with someone else interactively?

Answer 15

3 years

BEFORE 3 YEARS – it’s normal for a child to play by themselves

After 3 years you would expect them to start sharing/interacting, so may worry if they struggle with playing with others > 3 years

Question 16

When do children have their hearing checked?

Answer 16

Newborn hearing screening

Hearing screening when they start school

If the parents are concerned about their hearing

Question 17

Up to which age is it normal to be able to see a squint in a child?

Answer 17

Newborns may appear to squint when looking at near objects

By 12 weeks – NO SQUINT should be present at all

Question 18

When is vision screening performed?

Answer 18

Pre-school children

School entry

Question 19

What are some causes of developmental delay?

Answer 19

Genetic – chromosomal abnormalities, brain malformation
Congenital hypothyroidism
Teratogenic medications during pregnancy
Infections during pregnancy
Hypoxic brain injury during birth
History of meningitis
Head trauma (accidental or non-accidental)
Brain hypoxia due to near-drowning, seizures
Unknown

Question 20

What are some genetic causes of severe visual impairment?

Answer 20

Congenital cataracts
Albinism
Retinal dystrophy
Retinoblastoma

Question 21

Define strabismus

Answer 21

Misalignment of the visual axes

Also known as squint

Question 22

What is the most common cause of squint?

Answer 22

Failure to develop binocular vision due to refractive errors of the eyes

(can also be caused by cataracts, retinoblastoma and other intra-ocular problems that must be excluded)

Question 23

What are the 2 divisions of squints?

Answer 23

Non-paralytic (concomintant, common) – usually due to refractive error, often treated by glasses but may require surgery

Paralytic (rare) – due to paralysis of the motor nerves. When rapid onset, can be sinister i.e. due to underlying SOL

Question 24

What tests can be done to detect a squint?

Answer 24

Corneal light reflex test – shine a pen torch in the eyes, the reflection of the light should appear in the same position in both eyes. If not, there may be a squint

Cover test – cover the good eye and the squinting eye will move. Perform close (33cm) and distant (6m) as some squints are only present at once distance

Question 25

What are the refractive errors seen in childhood?

Answer 25

Hypermetropia Myopia Amblyopia

Question 26

What are hypermetropia and myopia, and why are they important to correct early?

Answer 26

Hypermetropia – long sightedness (more common) Myopia – short sightedness (uncommon and less likely to lead to permenant visual damage) Correct early to avoid amblyopia – irreversible damage to vision

Question 27

What is amblyopia?

Answer 27

Also known as LAZY EYE Potentially permanent loss of visual acuity in an eye that has not received a clear image Usually affects one eye

Question 28

What causes amblyopia?

Answer 28

Any interference with visual development: Squint Refractive errors Ptosis Cataract

Question 29

How is amblyopia treated?

Answer 29

Glasses to correct any visual impairment Patching of the ‘good’ eye to force the lazy eye to work Early treatment is essential – after 7 years, improvement is unlikely Considerable support given to children and parents – children do not like having the eye patched

Question 30

Name some of the ways in which visual impairment can present in childhood?

Answer 30

Loss of red reflex (i.e. from a cataract) White reflex in the pupil (retinoblastoma, cataract, ROP) Not smiling responsively by 6 weeks Lack of eye contact with parents Random eye movements Failure to fix and follow Nystagmus Squint Photophobia

Question 31

How can you treat strabismus?

Answer 31

Conservative – glasses, orthoptic exercises to improve control over eye muscles Surgery: Strengthening procedure – resection Weakening procedure – recession of the muscle on the side the eye goes towards Esotropia (eye pointing inwards) – strengthen lateral rectus by resection, recession of the medial rectus Exotropia – opposite Botox injections – paralyse the muscle that is pulling the eye in a certain direction

Question 32

Describe some possible behavioural changes that may present as a result of hearing loss

Answer 32

Appears to daydream Sits near the TV and turns the volume really loud Watches the speaker’s face closely for clues Misunderstands/slow in responding Answers questions incorrectly Soft/fuzzy speech Doesn’t turn immediately when name called Aggressive Slowly schoolwork/grades start to get worse

Question 33

What are the 2 categories of hearing loss and the underlying pathology behind them?

Answer 33

Conductive hearing loss – an obstruction in the ear canal preventing sound from getting through (often reversible) Sensorineural hearing loss – nerve damage (progressive, never reversible)

Question 34

What are the causes for conductive hearing loss in children?

Answer 34

Most common - congestion behind the eardrums (e.g. with a cold) Glue ear Ear wax Middle ear infection Perforated ear drum Structural abnormality of the outer ear – i.e. with certain syndromes

Question 35

What are some risk factors for conductive hearing loss?

Answer 35

Down’s syndrome Craniofacial syndromes Cleft palate

Question 36

If you performed a test with a vibrating tuning fork in someone with conductive hearing loss, what would you find?

Answer 36

Better hearing through bone conduction

Question 37

How do you manage conductive hearing loss?

Answer 37

Most are self-limiting (i.e. inner ear infection/cold) ENT referral – insertion of grommets to help drain excess fluid out of the middle ear Hearing aids if they have a permanent cause for the hearing loss

Question 38

What are some causes of sensorineural hearing loss?

Answer 38

Unknown in many cases Genetic/ syndromal Perinatal cause – trauma, infection, hypoxia at birth Congenital infections – rubella, CMV Meningitis – pneumococcus can cause ossification of the cochlear Premature babies – increased risk

Question 39

If you were to perform a vibrating tuning fork test on someone with sensorineural hearing loss, what would you find?

Answer 39

Hearing is NOT better through bone On audiology - hearing loss worse in the higher frequencies

Question 40

How do you manage sensorineural hearing loss?

Answer 40

Hearing aids Cochlear implants Aim = raise the level of hearing so that as much speech is audible as possible

Question 41

Which cases are cochlear implants reserved for?

Answer 41

Profound hearing loss (> 90 decibels) High frequency Bilateral hearing loss Meningitis hearing loss

Question 42

What are some long term effects of hearing loss?

Answer 42

Developmental delay – particularly in speech and language Behavioural problems – too loud or too quiet Impact on education Impact on friendships and social life Impact on emotions/psychosocial impact

Question 43

Name some members of the MDT involved in child development services?

Answer 43

Paediatrician Physiotherapist Occupational therapist SALT Dietician Nurses Health visitor Psychologist Family therapist - for difficult cases Social worker Key worker Teachers and school nurse may also be involved

Question 44

What is the role of the MDT service for child development?

Answer 44

Help liaise between home and school and the child’s care needs Assess the child’s functional ability and need To provide therapy where needed To provide psychosocial support to the family To ensure health needs of the child are met

Question 45

What is Down’s syndrome?

Answer 45

Trisomy 21 A chromosomal abnormality in which there are 3 copies of chromosome 21, rather than 2 copies Leads to specific learning difficulties and dysmorphic features

Question 46

What is the main risk factor for Down’s syndrome?

Answer 46

Increasing maternal age

Question 47

What are the 3 causes/mechanisms by which Down’s syndrome can arise?

Answer 47

Non-Disjunction – 94% Unbalanced Robertsonian Translocation - 4% Gonadal mosaicism – 1% (milder phenotype)

Question 48

What is non-disjunction?

Answer 48

An error in meosis 1 Pair of chromosome 21s fail to separate – so one gamete has 2 chromosome 21s and one has none Fertilisation of the gamete with 2 chromosome 21 gives rise to a zygote with trisomy 21 Parental chromosomes do not need to be examined Related to maternal age 47 chromosomes in Karyotype

Question 49

What is a translocation and which chromosome is often involved in trisomy 21?

Answer 49

Extra copy of chromosome 21 joined onto another chromosome – usually chromosome 14 These children will have 46 chromosomes on a karyotype – but 3 copies of chromosome 21 material (it’s just that one portion of it is tacked onto chromosome 14) Parental chromosome analysis is needed – one parent is a carrier in 25% of cases Translocation carriers have 45 chromosomes on karyotype (one of the 21s is in the wrong place)

Question 50

What are some classic appearance features seen in someone with Down’s syndrome?

Answer 50

Flat bridge of nose Flat occiput Wide space between the eyes Small mouth and hence apparently large tongue (‘pseudo macroglossia) Single palmar crease Eyes slanting down and inwards

Question 51

What are some medical conditions that people with Down’s syndrome are more at risk of?

Answer 51

Complete atrioventricular septal defect – echo needs to be performed on all down’s syndrome babies Hypothyroidism Duodenal atresia Hypotonia Later in life – Alzheimer’s disease

Question 52

How is Down’s syndrome screened for antenatally?

Answer 52

Risk score calculated based on serum markers and nuchal translucency Diagnostic testing can be offered if there is a high risk score – amniocentesis or chorionic villus sampling

Question 53

How do you manage a child with Down’s syndrome?

Answer 53

Multidisciplinary team involvement Cardiology – perform echo to look for AVSD Endocrinology – increased risk of hypothyroidism Childhood disability services SALT Physio Special educational needs school Liaison between school, healthcare and family imperative

Question 54

What are some clinical features associated with Edward’s syndrome (trisomy 18)?

Answer 54

Low birthweight Prominent occiput Small mouth and chin Short sternum Flexed, overlapping fingers Rocker-bottom feet Cardiac and renal malformations Microcephaly 90% die in first year

Question 55

What are some clinical features of Patau syndrome (trisomy 13)?

Answer 55

Structural defect of brain (often single lobed) Scalp defects Small eyes (microphthalmia) Cleft lip and palate Polydactyly (too many fingers and toes) Cardiac and renal malformations Not compatible with life

Question 56

How are Patau’s and Edward’s syndrome diagnosed?

Answer 56

Often antenatally - abnormalities detected on USS, risk score comes back high for trisomy Prenatal diagnosis – amnio or CVS Karyotype genetic analysis confirms diagnosis at birth

Question 57

What is Turner’s syndrome?

Answer 57

A chromosomal condition in which females only inherit one copy of the X chromosome, rather than 2 copies Should be 46, XX Turner’s = 45, X or 45 XO

Question 58

What are some clinical features of Turner’s syndrome?

Answer 58

Female Short stature Webbed neck Infertility/primary amenorrhoea Delayed puberty Wide spaced nipples

Question 59

What congenital heart defect is associated with Turner’s syndrome?

Answer 59

Coarctation of the aorta

Question 60

How is Turner’s syndrome diagnosed?

Answer 60

Clinical suspicion Diagnosis confirmed on karyotyping (45, XO)

Question 61

How is Turner’s syndrome managed?

Answer 61

Growth hormone therapy Oestrogen replacement for development of secondary sexual characteristics at the time of puberty Infertility – can be managed with IVF

Question 62

What is Klinefelter's syndrome?

Answer 62

A genetic condition in which males inherit an extra copy of the X chromosome – meaning their karyotype is 47, XXY when it should be 46, XY

Question 63

What are the clinical features of Kleinfelter’s syndrome?

Answer 63

Male TALL stature Infertility – most commonly presents in this way in adult life Delayed puberty – lack of pubic hair etc. Gynaecomastia in adolescence

Question 64

How do you treat Kleinfelter’s syndrome?

Answer 64

Testosterone replacement 1 injection/month for life Promotes the development of sexual characteristics

Question 65

What is fragile X syndrome?

Answer 65

An inherited form of learning disability due to a trinucleotide repeat expansion on the X chromosome Affects males more than females as females have protection from their other X chromosome Females have a milder phenotype

Question 66

What are the clinical features of fragile X syndrome?

Answer 66

”cocktail personality” – happy, bouncy children Macrocephaly Large ears Learning difficulties/autism Joint laxity Large testes Hypotonia Mitral valve prolapse

Question 67

How would a diagnosis of Fragile X syndrome be confirmed?

Answer 67

FISH testing (fluorescence in situ hybridisation) – to look at the content of the cells

Question 68

What is DiGeorge syndrome?

Answer 68

Abnormal branchial arch development Leading to problems with the heart, thymus and palate

Question 69

What are the clinical features of DiGeorge syndrome?

Answer 69

CATCH 22 : C – cardiac A – abnormalities T – thymus hypoplasia (T cell dysfunction 🡪 primary immune def.) C – cleft palate H – hypocalcaemia 22 – defect = chromosome 22 material deletion

Question 70

Which types of cardiac abnormalities are seen in DiGeorge syndrome?

Answer 70

Truncus arteriosis Tetralogy of Fallot Interrupted aortic arch Coarctation Vascular ring around trachea 🡪 stridor

Question 71

What investigations should be done in someone with suspected DiGeorge syndrome?

Answer 71

T-cell count CXR – do this in any patient with recurrent infections to look for the thymus Anyone with congenital cardiac disease – test for DiGeorge

Question 72

What is Noonan’s syndrome?

Answer 72

They look like the boy version of Turner’s Short stature Webbed neck Ptosis Hypothyroidism Pulmonary stenosis Hypogonadism

Question 73

What is Marfan’s syndrome?

Answer 73

A connective tissue disorder Caused by fibrillin deficiency

Question 74

What are some clinical features of Marfan’s syndrome?

Answer 74

Arachnodactyly – spider fingers Aortic dilatation 🡪 aneurysm 🡪 dissection Lens dislocation Long arms and legs High arched palate Lax/hypermobile joints

Question 75

What regular investigation is important in someone with Marfan’s syndrome?

Answer 75

Echocardiogram – check for dilatation of the aorta – needs fixing to prevent aortic dissection

Question 76

Which type of connective tissue abnormality is associated with Ehler-Danlos syndrome?

Answer 76

Elastin defect So affects collagen (skin etc.)

Question 77

What are the signs and symptoms of Ehler-Danlos syndrome?

Answer 77

Stretchy skin Able to touch thumb back down to the radius side of their arm Excessive bruising (weak collagen in blood vessels) Tissue fragility Brain aneurysms “cigarette paper scars” – shiny and thin scars on the skin Poor healing

Question 78

What are the types of Mendelian inheritence?

Answer 78

Autosomal dominant Autosomal recessive X-linked Y-linked

Question 79

What is the chance of inheriting an autosomal dominant condition from an affected parent?

Answer 79

50%

Question 80

Give some examples of autosomal dominant conditions

Answer 80

Adult polycystic kidney disease Familial hypercholesterolaemia Marfan’s syndrome Huntington’s disease Some cancers – BRCA (ovarian, breast)

Question 81

Give 3 reasons why someone may have an autosomal dominant condition but a negative family history?

Answer 81

Most common reason = non paternity New mutation Gonadal mosaicism

Question 82

What is the risk of inheriting an autosomal recessive condition from 2 carrier parents?

Answer 82

1 in 4 (25%)

Question 83

What is the risk that a sibling of a child affected with an autosomal recessive condition is a carrier?

Answer 83

2 in 3 carrier risk for unaffected siblings because you TAKE AWAY the possibility of them being affected So you are left with 3 possibilities – the 50% chance they are a carrier and the 25% chance they are not So out of these 3 choices – they are 2x more likely to be a carrier than not – so it’s a 2 in 3 risk THIS MAY WELL COME UP IN THE EXAM SO LEARN IT

Question 84

What is the population carrier risk for CF?

Answer 84

1 in 25

Question 85

What is a big risk factor for autosomal recessive conditions, particularly in people with an Asian origin?

Answer 85

Consanguineous parents Particularly in families with many generations of consanguinity – can give the appearance of an autosomal dominant pedigree for a recessive condition

Question 86

General rule for autosomal dominant vs recessive conditions

Answer 86

Dominant = structural protein defects Recessive = affects metabolic pathways

Question 87

What transmission patterns (i.e. male to male/male to female) would be seen in an X-linked recessive condition?

Answer 87

NO male to male transmission (so if you see 2 male squares shaded in 2 consecutive generations on a pedigree, it’s not X linked) Every affected male will produce a carrier female If the mother is a carrier: 50% sons = affected 50% daughters = carriers

Question 88

Give some examples of X-linked recessive conditions?

Answer 88

Duchenne’s and Becker’s Some types of albinism Haemophilia A Fragile X syndrome

Question 89

What are the types of non-mendelian inheritance?

Answer 89

Multi-factorial/polygenic inheritance Imprinting and uniparental disomy Mitochondrial inheritance

Question 90

Give an example of a disease which has multifactorial inheritance?

Answer 90

Combination between the pre-disposing genes and the lived environment Spina bifida We know that folic acid deficiency is linked to spina bifida We also know that you have a higher risk if you had a sibling with spina bifia

Question 91

Explain what imprinting and uniparental disomy is?

Answer 91

For most genes both copies are expressed Some genes only are maternally or paternally expressed- this is called IMPRINTING Prader-Willi and Angleman’s syndrome are both caused by either cytogenetic deletions of the same region of chromosome 15q or by uniparental disomy of chromosome 15 (where both copies of 15 come from the same parent)

Question 92

What is the chromosomal abnormality in Prada-Willi syndrome?

Answer 92

Chromosome 15 Syndrome occurs when failure to inherit the active paternal gene occurs So they either inherit 2 COPIES FROM MUM or an abnormal copy from dad

Question 93

What are the clinical features of Prada-Willi syndrome?

Answer 93

Hypotonia (even from neonatal age) Learning difficulties Obesity (due to hyperphagia) Small genitalia

Question 94

What is Angelman’s syndrome?

Answer 94

Chromosome 15 abnormality Failure to inherit the active maternal gene 2 COPIES FROM DAD Or abnormal copy from mum

Question 95

What are the clinical features of Angelman’s syndrome?

Answer 95

Severe learning difficulty Ataxia Broad based gait Characteristic facial appearance Epilepsy “Happy puppet” – unprovoked laughing/clapping Microcephaly

Question 96

How is DNA analysis performed?

Answer 96

DNA PCR (polymerase chain reaction)

Question 97

What are the main roles of DNA analysis in genetic counselling?

Answer 97

Confirmation of a clinical diagnosis Detect female carriers for X-Linked disorders Detect carriers in autosomal recessive disorders (e.g. siblings of CF patients) Pre-symptomatic diagnosis of autosomal dominant disorders (e.g. Huntington’s disease)

Question 98

What would you say to a parent with known Huntington’s disease if they asked you to test their child for the presence of the gene because they want to know if their child will get the disease?

Answer 98

Sorry this is not an option Genetic testing for diseases in this way will not be performed on healthy children - need to wait until they are old enough to give informed consent for this procedure themselves

Question 99

What is the role of a clinical geneticist?

Answer 99

Involved in making diagnoses To explain the diagnosis to the family Discuss prognosis Discuss options available e.g. genetic testing, screening, prenatal diagnosis Refer to appropriate specialists for management

Question 100

What are the main reasons for a referral to genetic counselling?

Answer 100

Preconception advice for someone with a family history of a genetic disorder Antenatal – finding out about a disorder during pregnancy From paeds – developmental delay, dysmorphic features Carrier testing in known family history Adult onset conditions – advice about whether or not they should get the test if their parent had the disease Post mortem – unexplained death to look for genetic cause

Question 101

What are the congenital infections to be aware of?

Answer 101

TORCHS: T - Toxoplasmosis O – Other (HIV) R - Rubella C – CMV H - HSV S – Syphillis Or CHRIST – CMV, HSV, rubella, Syphillis, toxoplasmosis

Question 102

What treatment do you give to a pregnant lady with syphillis?

Answer 102

IM BenPen

Question 103

What treatment do you give to a pregnant lady with toxoplasmosis?

Answer 103

Catch it from cat poo Treatment – spiromycin

Question 104

What are some complications of measles?

Answer 104

Encephalitis Subacute sclerosing pan-encephalitis Febrile convulsions Giant cell pneumonia Diarrhoea Appendicitis Myocarditis

Question 105

What is Perthe’s disease and how does it present?

Answer 105

Degenerative condition of the hip jint due to avascular necrosis of the femoral head More common in boys Features – hip pain (which can present as knee pain!), limp, shortening of the affected leg, pain on internal and external rotation of the hip Imaging – flattening of the femoral head

Question 106

What is the classic presentation of Hirshprung’s disease?

Answer 106

Failure to pass meconium Symptoms of bowel obstruction – abdominal distention, bilious vomiting Failure to thrive/low birthweight/size PR EXAMINATION CAUSES STOOL EJECTION 5x more common in boys

Question 107

What is the definitive diagnosis for Hirschsprung's disease?

Answer 107

Rectal biopsy

Question 108

What complications can occur to the foetus if the mother is infected with rubella during the pregnancy?

Answer 108

Congenital cataracts Congenital heart disease Sensorineural deafness

Question 109

How are these complications prevented?

Answer 109

MMR vaccine If you see a pregnant lady – make sure to check she has had the MMR vaccine

Question 110

What is the main complication to worry about if a pregnant woman has cytomegalovirus?

Answer 110

90% of babies will be normal at birth However 5% may develop sensorineural hearing loss later in life

Question 111

Are pregnancy women screened for CMV?

Answer 111

No There is no vaccine and no antiviral therapy for CMV so screening is not appropriate

Question 112

How is toxoplasmosis typically caught?

Answer 112

Eating infected meat Contact with infected cat faeces Pregnant women not screened

Question 113

What are the consequences of infection with toxoplasmosis during pregnancy?

Answer 113

Most infants born are asymptomatic Retinopathy Cerebral calcification Hydrocephalus Long term neurological disabilities

Question 114

What are the risks of chickenpox (varicella zoster) to the foetus during pregnancy?

Answer 114

< 20 weeks – risk of skin scarring and neurological damage 2 days before or 5 days after delivery – high viral load (foetus unprotected by maternal antibodies) – mortality 30%

Question 115

How should a pregnancy women who has been exposed to chickenpox be treated?

Answer 115

VZIG (varicella zoster immunoglobulin) Acyclovir

Question 116

Is maternal syphilis screened for during pregnancy?

Answer 116

YES So is HIV and hepatitis B

Question 117

How is maternal syphilis treated during pregnancy and what are the long term complications for the baby?

Answer 117

Penicillin If fully treated a month or more before delivery – infant doesn’t require any treatment and has a good prognosis If any doubt of adequate maternal treatment – infant also treated with penicillin

Question 118

How much is an Apgar score out of?

Answer 118

10 NORMAL = between 7 and 10

Question 119

What factors are considered when giving an Apgar score?

Answer 119

Cardio Respiratory Colour Reflexes Tone

Question 120

What is the purpose of the NIPE examination?

Answer 120

Detect congenital abnormalities not already identified at birth (e.g. heart disease, DDH) Check for potenital problems that could arise due to family history (i.e. mum or dad) Provide an opportunity for parents to ask questions about the baby

Question 121

What are some common findings on a NIPE examination?

Answer 121

Congenital heart disease Developmental dysplasia of the hip (DDH) Talipes (club feet) – positional or true Down’s syndrome Cleft lip and palate Urogenital – hypospadias, undescended testes Spina bifida

Question 122

What are some common cardiac issues affecting premature babies?

Answer 122

Structural heart defect Patent ductus arteriosus Anaemia of prematurity

Question 123

What are some common respiratory problems affecting premature infants?

Answer 123

Surfactant deficiency 🡪 risk of respiratory distress syndrome Chronic lung disease of prematurity (bronchopulmonary dysplasia) - more prone to pneumonia and viruses – give them palivizumab to protect against RSV Pneumothorax Apnoea, bradycardia and desaturation

Question 124

What are some common GI problems in premature babies?

Answer 124

Necrotising enterocolitis – underdeveloped gut bacteria, leads to gut become swollen and pedematous and risk of perforation (red, shiny, tender abdomen on babies) – breast milk protective Feeding problems/nutrition – slower establishment of feeding, unable to suck and swallow until 33-34 weeks so will need IV. Build feeds up slowly to reduce the risk of NEC

Question 125

What are some common metabolic issues in preterm babies?

Answer 125

Hypoglycaemia – due to lack of glycogen stores developed Hypocalcaemia – kidneys and parathyroid not fully developed Electrolyte and fluid imbalance and hypothermia – excess losses through thin skin Osteopenia of prematurity

Question 126

What are some neurological problems that preterm babies are at risk of?

Answer 126

Long term neurological issues Apnoea of prematurity – as the brain stem is not fully myelinated until 32-34 weeks so the pontine respiratory centre is not fully developed Intraventricular haemorrhage – diagnose with cranial USS

Question 127

What are the main infections that affect babies?

Answer 127

Preterm babies in general are more prone to infections Group B strep E.coli and other gram negatives Fungal infections –candida Viral infections – herpes caught from genital tract during delivery

Question 128

What eye problems affect premature infants and what is thought to be the cause of this?

Answer 128

Retinopathy of prematurity Occurs due to hyperoxic insult whilst the blood vessels are still developing (i.e. premie babies are given oxygen because they are struggling to breathe and this ends up damaging their eyesight)

Question 129

What is normally the cause of neonatal infection < 48 hours and >72 hours?

Answer 129

< 48 hours – infection generally from the birth canal >72 hours – source of infection is usually from the environment (catheters for nutrition, tracheal tubes, skin breaking procedues e.g. drawing blood) – most commonly coagulase negative strep (epidermidis)

Question 130

What are some risk factors for early onset infection in neonates?

Answer 130

Prolonged rupture of membranes If mother has fever during labour or develops one shortly after birth If the infant is pre-term If mother is GBS+Ve or has another genital tract infection

Question 131

What’s the main risk factor for developing late onset neonatal infections?

Answer 131

Being on ICU or NICU – possibility of exposure to pathogens and cross contamination

Question 132

What are the clinical features of neonatal sepsis?

Answer 132

Fever/hypothermia/temperature instability Poor feeding Vomiting Apnoea and bradycardia Respiratory distress Abdominal distention Jaundice Irritability Seizures Lethargy/drowsiness

Question 133

How does Group B strep infection tend to present?

Answer 133

Pneumonia Septicaemia Occasionally meningitis Mortality 10%

Question 134

Which women are considered high risk for GBS infection and are therefore screened SELECTIVELY (i.e. not everyone is screened)?

Answer 134

Pre-term delivery Previous baby with GBS infection Prlonged rupture of membranes Fever >38 during labour Intrapartum antibiotics given to these high risk ladies if possible

Question 135

Where can listeria monocytogenes infection be caught from?

Answer 135

Unpasterised milk Soft cheese Undercooked poultry Can cause miscarriage, pre-term delivery and foetal infection

Question 136

How to manage conjunctivitis and sticky eyes in newborns?

Answer 136

Common and usually only needs cleaning with water or saline If more troublesome discharge – could be due to staph or strep infection – treat with neomycin eye ointment Gonococcal infection – purulent discharge, 48 hours after birth, gram stain, treat with penicillin or 3rd gen cephalosporin, cleanse frequently Chlamidya trachomatis eye infection – purulent, 1-2 weeks of age, idenfity with immunoflourescent staining, treat with oral erythromycin for 2 weeks

Question 137

How should an infant born to a HBsAg positive mother be treated?

Answer 137

Hepatitis B vaccine shortly after birth to prevent vertical transmission Complete vaccine course during infancy and check antibody response

Question 138

What is the septic screen done for infants presenting with signs of sepsis?

Answer 138

Chest X ray Urine sample Lumbar puncture – CSF sample Blood cultures Full blood count U&Es

Question 139

What should your immediate action be in child presenting with signs of sepsis?

Answer 139

Perform a septic screen Commence treatment without waiting for the culture results

Question 140

Which antibiotics would you prescribe?

Answer 140

IV Broad spec and gram +ve and gram -ve cover: Beta lactam (e.g. Amoxicillin) for gram +ve Aminoglycoside (e.g. gentamycin) for gram –ve If cultures negative and child clinically well after 48 hours then Abx can be stopped

Question 141

Why is it important to treat jaundice in neonates?

Answer 141

To prevent kernicterus This is bilirubin induced encephalopathy caused by unconjugated bilirubin being deposited in the brain This happens because babies blood brain barriers are not well developed so allow bilirubin to cross the blood brain barrier

Question 142

What may cause neonatal jaundice?

Answer 142

Physiological jaundice Infection Haemolysis/haemolytic anaemia Metabolic disease

Question 143

How common is neonatal jaundice?

Answer 143

60% of neonates experience it

Question 144

What are the causes of jaundice starting <24 hours of age?

Answer 144

Congenital infection Haemolytic disorders: Rhesus incompatibility ABO incompatibility G6PD deficiency Spherocytosis Pyruvate deficiency

Question 145

What are the causes of jaundice between 24 hours and 2 weeks of age?

Answer 145

Physiological Breast milk jaundice Infection e.g. UTI Haemolysis e.g. G6PD deficiency, ABO compatibility Bruising Polycythaemia Crigler-Najjar syndrome (rare inherited disorder which affects bilirubin metabolism)

Question 146

What are the causes of jaundice at >2 weeks of age?

Answer 146

Unconjugated: Physiological or breast milk jaundice Infection (particularly UTI) Hypothyroidism Haemolytic anaemia (e.g. G6PD def.) High gastrointestinal obstruction Conjugated: Bile duct obstruction (e.g. biliary atresia) Neonatal hepatitis

Question 147

What is physiological jaundice?

Answer 147

No underlying cause behind mild or moderately jaundiced babies Bilirubin rises as the infant is adapting to transition from foetal life – babies red blood cells have a shorter lifespan (70 days) than adult (120 days), so increased blood cell destruction leads to higher amount of circulating bilirubin Hepatic bilirubin metabolism is less efficient in the first few days of life Can only be called physiological after other causes have been considered and ruled out

Question 148

Which type of infection in particular tends to present as neonatal jaundice?

Answer 148

Urinary tract infection Investigate – urine sample, blood cultures, CXR, FBC

Question 149

Which type of jaundice is most worrying in neonates?

Answer 149

Persistent/prolonged jaundice Most jaundice between 2 days – 3 weeks is physiological However prolonged is more likely to be something sinister

Question 150

What would the parents complain of in a jaundiced infant?

Answer 150

Looks slightly yellow on their skin or eyes Often only visible when outside in the sunlight

Question 151

If prolonged jaundice was caused by biliary atresia or another type of cholestasis, what other associate symptoms would there be?

Answer 151

Pale stools Dark urine Probably off feeds and general unwell in themselves Possible itching/scratch marks on the skin

Question 152

What investigations should be done on a child presenting with jaundice?

Answer 152

Serum bilirubin level Transcutaneous bilirubin measurement If suspicious of biliary atresia (i.e. prolonged jaundice, pale stools, dark urine) – ultrasound scan of the liver is the gold standard for diagnosis

Question 153

What factors need to be taken into consideration when assessing a jaundiced baby?

Answer 153

Age of onset (prolonged is often more worrying) Severity of jaundice Rate of change Gestation - preterm infants more susceptible Clinical condition – pyrexia, hypothermic etc.

Question 154

How can jaundice be treated?

Answer 154

Phototherapy Blue-green (450nm wavelength) Converts unconjugated bilirubin into harmless water-soluble pigment by photodegradation No long term sequealae Cover the infants eyes Side effects – temp. instability, rash, bronze discolouration Exchange transfusion If bilirubin levels are too high to be treated with phototherapy

Question 155

How does neonatal hypoglycaemia present?

Answer 155

Jitteriness Irritability Apnoea Lethargy Drowsiness Seizures

Question 156

What are some risk factors for neonatal hypoglycaemia?

Answer 156

Preterm infants – lack of glycogen storage IUGR infants - lack of glycogen stores Babies born to diabetic mothers – have hyperinsulinaemia in response to maternal hyperglycaemia Large for dates Polycythemia Unwell for any reason

Question 157

What precautions need to be taken in babies at risk of neonatal hypoglycaemia?

Answer 157

Regular blood glucose monitoring at bedside Prevent by early and frequent milk feeding If needs treating – IVI dextrose via central venous catheter

Question 158

What is the role of a growth chart in paediatrics?

Answer 158

To assess whether a child’s overall height is abnormal - i.e. below the 2nd or above the 98th centile To assess whether a child is failing to follow their growth potential – i.e. dropping below a centile line To assess whether a child is loosing/gaining weight quickly – which could be a sign of pathology (assessed by seeing how they drop/rise above the centile lines)

Question 159

How is mid-parental height calculated?

Answer 159

For boys – ((Dad + mum height in cm)/2) + 7 For girls – ((Dad + mum height in cm)/2) – 7

Question 160

What is the first sign of puberty in girls?

Answer 160

Breast development (thelarche) Usually occurs between 8.5 and 12.5 years Menarche occurs on average 2.5 years after the start of puberty

Question 161

What is the first sign of puberty in males?

Answer 161

Testicular enlargrment >4ml in volume (measured using a Prader Orchidometer) Usually occurs between 10 —14 years of age

Question 162

What are the normal ages of onset of puberty for girls and boys?

Answer 162

Girls – between 8 and 12 Boys - between 9 and 13

Question 163

What is considered early puberty in boys and girls? Which are you more worried about?

Answer 163

Early in girls - < 8 years Early in boys - < 9 years More worried about early puberty in boys – most common cause is a brain tumour (e.g. pituitary adenoma) In girls, early puberty is much more common

Question 164

What is considered late puberty in boys and girls? Which is more worrying?

Answer 164

Girls - > 13 years Boys - > 14 years More worrying in girls – can be a sign of abnormal karyotype such as Turner’s or primary ovarian failure

Question 165

What is the definition of short stature?

Answer 165

Height below the 2nd centile

Question 166

What are the causes of short stature?

Answer 166

Familial – i.e. short parents, and they fall in the range of their mid-parental height IUGR and extreme prematurity Constitutional delay of growth and puberty Endocrine – GH deficiency/panhypopituitarism, steroid excess (Cushing’s), Hypothyroidism Syndromes – Down’s, Turner’s, Noonan’s Chronic illness and failure to thrive Psychosocial deprivation Skeletal dysplasias – disproportionate limb and back length

Question 167

How do you investigate a child with short stature?

Answer 167

Serial measurements plotted on growth chart Calculate mid-parental height Bone age scan – wrist X ray FBC, U&E Pituitary function tests (growth hormone testing) Dexamethasone suppression test – Cushing’s syndrome Thyroid function tests Karyotype Coeliac antibodies (endomysial antibodies and anti-TTG)

Question 168

What is the definition of tall stature?

Answer 168

Height above the 98th centile

Question 169

What are some causes of tall stature?

Answer 169

Familial – tall parents Obesity Syndromes – Marfan’s syndrome Hyperthyroidism Precocious puberty Congenital adrenal hyperplasia Excess growth hormone secretion – true gigantism (and then after puberty 🡪 acromegaly)

Question 170

What are some causes of precocious puberty in females?

Answer 170

Breast development before 8 years Usually idiopathic or familial Can occasionally be from late presenting CAH

Question 171

What are some causes of precocious puberty in males?

Answer 171

Secondary sexual characteristics before 9 years Uncommon Usually brain tumour CAH Gonadal tumour

Question 172

How would you investigate precocious puberty?

Answer 172

Full history including ages that parents went into puberty Ultrasound scan of uterus and ovaries Boys – MRI brain

Question 173

How do you treat precocious puberty?

Answer 173

Boys – treat underlying cause Girls – if they are ok with it, leave them alone. If they aren’t then can give them GnRH analogues to stop the puberty progressing further until she is ready

Question 174

What are some causes of delayed puberty in females?

Answer 174

Absence of pubertal development by 14 years Constitutional delay (mum and sisters also started late) Systemic disease – Crohn’s, organ failure, CF Hypothalamic causes – stress, anorexia, excessive athletic training

Question 175

What is the most common cause of delayed puberty in boys?

Answer 175

Absence of pubertal development by 15 years Usually familial/constitutional delay – their dad was also a late bloomer. Can give them testosterone to kick start the process if it’s really distressing to them Can also be due to chronic disease e.g. Crohn’s, CF, coeliac etc.

Question 176

How to treat delayed puberty?

Answer 176

Identify and treat any underlying pathlogy Reassure Testosterone for boys Oestradiol for girls

Question 177

What is the role of anti-Mullerian hormone?

Answer 177

Produced by the sex-determining region of the Y chromosome Role = to prevent mullerian duct from persisting and instead encourgae development of the Wolffian duct – i.e. stops the foetus from being female and instead makes it male

Question 178

What is congenital adrenal hyperplasia?

Answer 178

A condition in which there is reduced production of cortisol (+/- aldosterone) Most commonly due to 21 hydroxylase deficiency The cortisol and aldosterone pre-cursors are instead converted into testosterone (which in girls causes virilisation of the external genitalia) The reduced amount of circulating cortisol triggers a negative feedback response causing more ACTH to be released from the anterior pituitary This then stimulates the adrenal gland to grow – hence hyperplasia

Question 179

What mode of inheritance is CAH?

Answer 179

Autosomal recessive

Question 180

What is a large risk factor for CAH?

Answer 180

Consanguineous parents

Question 181

How does CAH present?

Answer 181

In female babies – ambiguous genitalia (clitoral enlargement, fusion of the labia) In male babies – if they are “salt losers” – salt-losing adrenal crisis VOMITING, WEIGHT LOSS, FLOPPINESS, CIRCULATORY COLLAPSE In non salt losing male babies – precocious puberty, tall stature, large muscles Females may also have precocious puberty (if they have not already present with ambiguous genitalia)

Question 182

What would the biochemical abnormalities be in a salt-losing CAH baby?

Answer 182

Low plasma sodium High plasma potassium Metabolic acidosis Hypoglycaemia

Question 183

How do you treat a baby in a CAH salt losing crisis?

Answer 183

IV saline IV dextrose IV hydrocortisone

Question 184

How is CAH treated?

Answer 184

Affected females – corrective surgery for the external genitalia as soon as possible Internal genitalia should not be corrected until puberty/sexually active as they will need to use vaginal dilators to keep the passage patent Medical treatment – lifelong hydrocortisone (glucocorticoid replacement) and in the salt-losers lifelong fludrocortisone (mineral corticoid replacement) NaCl may also need adding before weaning Sick day adjustment of cortisol

Question 185

What investigations need to be done in babies born with ambiguous genitalia?

Answer 185

Determine karyotype Adrenal and sex hormone levels Ultrasound scan of the internal structure and gonads

Question 186

Difference between glucocorticoid and mineralocorticoid?

Answer 186

Glucocorticoid = cortisol. Controls glucose Mineralocorticoid = aldosterone. Controls salt, which is a mineral!

Question 187

What are the advantages of breastfeeding?

Answer 187

Has the optimum macronutrients needed for the baby Contains maternal antibodies to protect against infection Free Helps the mum lose the baby weight “breast feeding contraception” Helps maternal and baby bonding Reduces the risk of NEC in preterm infants Can help reduce risk of post-menopausal breast cancers

Question 188

What are the disadvantages of breastfeeding?

Answer 188

Mum has to do all the feeds unless she expresses breastmilk Unknown intake so hard to quantify what baby is eating Breast milk jaundice Transmission of drugs/infections from mum to baby Can be painful for the mother Can be upsetting if the baby doesn’t want to feed Insufficient vitamin D and K in breastmilk – importance of introduction of solids at 6 months (for vit D) and vit K – injection at birth

Question 189

Define failure to thrive

Answer 189

Failure to gain adequate weight or achieve adequate growth at a normal rate for age OR suboptimal weight gain in infants and toddlers Can also be weight/growth faltering Serial measurements on growth charts is needed for the diagnosis to be made

Question 190

How can mild and severe failure to thrive be quantified/classified?

Answer 190

Mild = fall across 2 centile lines on growth chart Severe = fall across 3 centile lines on growth chart

Question 191

How can you differentiate a child who is constitutionally small from a child who is failing to thrive?

Answer 191

Consider the overall clinical picture, a normal child will have: No symptoms – will be happy, alert, responsive, normal milestones Parents that are also short May have been extremely premature

Question 192

What are some non-organic causes of failure to thrive?

Answer 192

MOST CHILDREN failing to thrive will be due to non-organic cause Any form of socioeconomic deprivation Maternal factors – depression, poor understanding of the baby’s needs Poor housing Poverty Inadequate social support/lack of extended family Neglect/abuse Inadequate calorie intake (under-nutrition)

Question 193

What are some organic causes of failure to thrive?

Answer 193

Impaired suck/swallow leading to inadequate intake – cleft palate, neuro-motor dysfunction, CP Cardiac disease – breathlessness during feeding Malabsorption – coeliac, CF (due to pancreas dysfunction), food intolerance, short gut syndrome Chronic illness – renal, liver, cardiac disease Excessive calorie loss – vomiting (GORD, pyloric stenosis), protein losing enteropathy (IBD, infections, SLE) Increased calorie requirements – malignancy, thyrotoxicosis, CF Chromosomal abnormalities – e.g. Down’s syndrome

Question 194

How would you manage a child who is “failing to thrive”?

Answer 194

Full history – including social factors especially – look into their home environment and get an idea of how well the parents are coping Examination – look for signs on examination (heart murmur, abdominal distention, cough/chestiness of CF) Blood tests – FBC, U&E, inflammatory markers, coeliac antibodies, TFTs Chest XR and sweat test – looking for CF in particular

Question 195

How to you approach treating failure to thrive?

Answer 195

Increase support for the parents if inorganic cause – health visitor, primary care involvement, education about nutrition Paediatric dietician SALT if suck/swallow problem If there is a chronic disease (cardiac, CF) – involve a specialist cardiac or respiratory paediatrician Social services Nursery placement may help Hostpial admission may be necessary for period of assessment If organic – identify and treat underlying cause

Question 196

What is the most common surgical cause of acute abdominal pain in children?

Answer 196

Appendicits UNCOMMON UNDER 3 YEARS OF AGE

Question 197

What is the most common cause of intestinal obstruction in the neonatal period?

Answer 197

Intussusception Usually between 2 months – 2 years Usually occurs at the ileocecal valve

Question 198

What are the causes of acute abdominal pain in children?

Answer 198

Acute appendicitis Non-specific abdominal pain and mesenteric adenitis Intussusception Meckel’s diverticulum Malrotation ALWAYS THINK ABOUT MEDICAL CAUSES – lower lobe pneumonia, DKA, hepatitis, pyelonephritis IN BOYS – check for testicular torsion and strangulated inguinal hernia

Question 199

What are the symptoms of acute appendicitis?

Answer 199

Abdominal pain – initially central and colicky, then localising to the RIF (from localised peritoneal inflammation) Anorexia Vomiting (usually only a few times)

Question 200

What are the signs of acute appendicitis?

Answer 200

Flushed face with bad breath Low-grade fever (37.2-38 *C) Abdominal pain aggravated by movement Persistent tenderness with guarding in the RIF (McBurney’s point) Rebound tenderness demonstrable on abdominal examination - sometimes this may be unimpressive but get them to cough, walk or jump and this should elicit the localised pain from peritoneal inflammation Rovsing’s sign – LIF pressure causes RIF pain

Question 201

What is the clinical presentation of non-specific abdominal pain and mesenteric adenitis?

Answer 201

Non-specific abdominal pain = pain which resolves in 24-48 hours Pain less severe than appendicitis Tenderness (and its position) variable Often accompanied by URTI with cervical lymphadenopathy

Question 202

What is the clinical presentation of intussusception?

Answer 202

Paroxysmal, severe, colicky pain Child becomes pale and draws up legs during episodes of pain Sausage shape mass often palpable in abdomen Inconsolable crying Passage of “redcurrant jelly stool” Abdominal distention Shock Vomiting

Question 203

What is the clinical presentation of Meckel’s diverticulum?

Answer 203

Severe rectal bleeding – neither bright red or true melena Can present as intussusception Can present as volvulus (bowel obstruction) Can present as diverticulitis which mimics appendicitis

Question 204

How does malrotation present?

Answer 204

Usually presents in first 1-3 days of life with intestinal obstruction May present at any age with volvulus causing obstruction and ischaemic bowel Clinical features Bile or blood stained vomiting Abdominal pain Tenderness – from peritonitis or ischaemic bowel

Question 205

What is the gold standard diagnosis for appendicitis?

Answer 205

CT scan of the abdomen

Question 206

How is a definitive diagnosis of mesenteric adenitis made?

Answer 206

Laparotomy or laparoscopy showing normal appendix and large mesenteric lymph nodes

Question 207

What is the gold standard diagnosis for intussusception?

Answer 207

Ultrasound scan – shows a “target sign” Other investigations - XR abdomen – distended small bowel and no gas distally

Question 208

How would you investigate suspected malrotation?

Answer 208

Urgent upper GI contrast study Need to do this whenever these is blood or bile stained vomiting

Question 209

How do you treat appendicitis?

Answer 209

Appendicetomy

Question 210

How do you treat NSAP and mesenteric adenitis?

Answer 210

Leave alone In some children – appendicetomy may performed if symptoms persist, at which point mesenteric adenitis can be definitively diagnosed

Question 211

How do you treat intussusception?

Answer 211

Aggressive fluid resuscitation Reduction via air enema – try to “blow” the telescoping portion of the bowel outwards. USS guidance during this procedure Laparotomy if air enema doesn’t work

Question 212

How do you treat Meckel’s diverticulum?

Answer 212

Fluid resus if needed Surgical resecetion

Question 213

How do you treat malrotation?

Answer 213

Urgent surgical correction

Question 214

How do you define recurrent abdominal pain?

Answer 214

Recurrent pain, sufficient to interrupt normal activities Lasting for at least 3 months

Question 215

What are the causes of recurrent abdominal pain in paediatrics?

Answer 215

Gastrointestinal - IBS, constipation, non-ulcer dyspepsia, abdominal migraine, gastritis, PUD, IBD, malrotation, coeliac disease Gynaecological – dysmenorrhoea, ovarian cysts, PID, always carry out pregnancy test if sexuall active Liver – hepatitis Pancreatitis UTI Psychosocial – bullying, abuse, stress etc.

Question 216

What is the clinical presentation of IBS?

Answer 216

Change of bowel habit Sensation of intra-abdominal events (bloating etc.) Pain – often worse before and relieved by defecation Mucousy stools Bloating Feeling of incomplete defecation Constipation/diarrhoea/mixed picture

Question 217

How does non-ulcer dyspepsia present?

Answer 217

Epigastric pain Postprandial vomiting Belching Bloating Early satiety Heartburn

Question 218

What are the symptoms of abdominal migraine?

Answer 218

(classic cranial migraines often associated with abdo pain along with the headaches, and in some children the abdo pain predominates) The pain is Midline Paroxysmal Associated with facial pallor Usually family history of migraine

Question 219

What are some worrying signs/symptoms that may occur alongside recurrent abdominal pain that may indicate organic disease?

Answer 219

Epigastric pain at night, haematemesis - duodenal ulcer Diarrhoea, weight loss, growth failure, blood in stools – IBD Vomiting – pancreatitis Jaundice – liver disease Dysuria, secondary enuresis – urinary tract infection Vomiting and abdominal distention – malrotation

Question 220

How should recurrent abdominal pain be investigated?

Answer 220

Guided by clinical features Essential to do urine MC&S as UTI can cause abdo pain Endoscopy if dyspeptic symptoms Colonoscopy if any rectal bleeding or lower abdominal symptoms IBS – diagnosis of exclusion

Question 221

How is IBS treated?

Answer 221

Can talk to a dietician about possible exclusion diets to see if any particular food aggrevates symptoms Manage stress Antispasmodics (for the pain) – i.e. mebeverine Anti-diarrhoea – loperamide Laxatives if they are suffering constipation

Question 222

How is non-ulcer dyspepsia treated?

Answer 222

If H.Pylori – needs eradicating with triple therapy

Question 223

How is abdominal migraine treated?

Answer 223

Pizotifen – a serotonin receptor antagonist Used as prophylaxis in children with frequent, severe symptoms

Question 224

What is the definition of posseting?

Answer 224

Non-forceful return of small amounts of milk Usually accompanied by wind Occurs normally in nearly all babies

Question 225

What is regurgitation?

Answer 225

Non-forceful return of milk Larger, more frequent losses than possetting Usually indicates gastro-oesophageal reflux

Question 226

What is the definition of vomiting?

Answer 226

Forceful ejection of gastric contents

Question 227

What are the causes of vomiting in infants?

Answer 227

Reflux (very common) Feeding problems Infection (gastroenteritis, whooping cought, UTI, meningitis) Dietary protein intolerances Intestinal obstruction (pyloric stenosis, atresia, Hirshprung’s, malrotation, intussusception etc.) Inborn errors of metabolism CAH Renal failure

Question 228

What are the causes of vomiting in pre-school children?

Answer 228

Gastroenteritis Other infections (kidneys, septicaemia, meningitis) Appendicitis Intestinal obstruction (intussusception, maloration, volvulus, adhesions) Raised ICP Coeliac disease Renal failure Inborn errors of metabolism Torsion of testis

Question 229

What are the causes of vomiting in school age children/adolescents?

Answer 229

Gastroenteritis Other infection – kidneys, septicaemia, meningitis Peptic ulcers Appendicitis Migraine Raised ICP Coeliac DKA Alcohol/drugs Cyclical vomiting syndrome Bulimia Pregnancy Testicular torsion

Question 230

What are some diagnostic clues in the vomiting infant?

Answer 230

Bile stained – exclude intestinal obstruction Blood in the vomit – oesophagitis, peptic ulcer, oral/nasal bleeding, malrotation Projectile vomiting in the first few weeks of life – exclude pyloric stenosis Associated symptoms – CNS, GI, UT infections Vomiting after paroxysmal cough – whooping cough (Pertussis) Dehydration or shock – could be an obstruction – 3rd spacing 🡪 shock Abdominal distention – exclude lower intestinal obstruction and strangulated inguinal hernia

Question 231

How do you manage a vomiting infant?

Answer 231

VITAL SIGNS ASSESS FOR DEHYDRATION AND SHOCK Rehydrate and support Find and treat underlying cause

Question 232

Reflux is common in infants, but can progress to GORD. What features are associated to class it as a disease?

Answer 232

Faltering growth/failure to thrive Oesophagtis +/- stricture Apnoea Aspiratation, wheezing, hoarseness – often comes as referrals from respiratory IDA Seizure like events/opsthotonos (acid causes arching of the back to adjust position)

Question 233

What is the gold standard diagnosis for GORD?

Answer 233

pH study

Question 234

What other investigations might you do for GORD?

Answer 234

Barium swallow and meal Endoscopy PPI trial

Question 235

How to manage a baby with GORD?

Answer 235

Position of their feeds - on their left, hold them upright Thicken feeds - gaviscon Drugs - antacid, H2 blocker (ranitidine), PPI Surgery – fundoplication

Question 236

What is the definition of diarrhoea?

Answer 236

Change in the consistency of stools (loose/liquid) And/or increase in the frequency of passing stools Acute – less than 2 weeks

Question 237

What are some causes of acute diarrhoea?

Answer 237

Viruses – rotavirus, norovisu, enterovirus, many more Bacteria – C.diff, E.coli, salmonella Parasites – giardia Other infections – otitis media, tonsillitis Food allergies and other diseases

Question 238

What is hypernatraemia dehydration?

Answer 238

Complication of diarrhoea Happens because the water loss exceeds the sodium loss Difficult to detect – blood test shows serum sodium > 145 Unusual and serious Irritable with doughy skin Water shifts from intracellular to extracellular Rehydration should be slow

Question 239

What are the features of hypernatraemic dehydration?

Answer 239

Jittery movements Increased muscle tone Hyperreflexia Convulsions Drowsiness/coma Doughy skin Irritable

Question 240

How do you investigate a child with diarrhoea?

Answer 240

Firstly – ASSESS FOR DEHYDRATION – cap refill, pinch test, sunken eyes, mucous membranes Look for an underlying cause

Question 241

How do you manage a child with acute diarrhoea?

Answer 241

Encourage normal diet Assess and treat dehydration – either oral or IV/NG if severe Supportive therapy Treat underlying cause if possible – antibiotics, probiotics

Question 242

What is the most common GI related food allergy?

Answer 242

Cow’s milk protein allergy This is NON IgE mediated

Question 243

How does cow’s milk protein allergy present?

Answer 243

Loose stool Vomiting Failure to thrive Reflux Mouth ulcers Atopic history (eczema, asthma, hayfever) Bloody stools Constipation Very rarely – anaphylaxis

Question 244

How does lactose intolerance present?

Answer 244

Explosive watery stools Abdominal distention Flatulence Audible bowel sounds

Question 245

How is cow’s milk protein allergy diagnosed?

Answer 245

Elimination diet

Question 246

How is cow’s milk protein allergy treated?

Answer 246

Change feeds – hydrolysed or powdered milk feeds Hope that the child will “grow out of it” eventually

Question 247

What are the main causes of malabsorption?

Answer 247

Small intestine disease – coeliac Exocrine pancreatic dysfunction – i.e. in CF (absence of lipase, proteases and amylase lead to defective digestion) Cholestatic liver disease/biliary atresia – malabsorption of fat due to lack of bile salts Short bowel syndrome – resection due to congenital abnormalities/NEC. Nutrient, water and electrolyte malabsorption Loss of terminal ileum function – resection, Crohn’s. absent bile acid and vitamin B12 absorption

Question 248

How does malabsorption present?

Answer 248

Abnormal stools – difficult to flush, extremely offensive odour Failure to thrive/poor growth Specific nutrient deficiencies e.g. iron deficiency anaemia, B12 deficiency

Question 249

What is the classic coeliac disease history?

Answer 249

Present in the first few years of life after introduction of gluten in cereals Generally irritable Abnormal stools (smelly, diarrhoea, floating) Abdominal distention Buttock wasting Failure to thrive/poor growth

Question 250

What investigations do you do for coeliac disease?

Answer 250

Antibodies – endomysial antibodies and tissue transglutaminase antibodies Gold standard diagnosis – intestinal (jejunal) biopsy showing villous atrophy and crypt hyperplasia

Question 251

How is coeliac disease treated?

Answer 251

Lifelong gluten free diet

Question 252

Define constipation and encopresis

Answer 252

Constipation = painful passage of hard, infrequent stools Encopresis = involuntary soiling

Question 253

What causes constipation in young children?

Answer 253

Child may avoid defecating due to pain (i.e. they have a transient superficial anal fissue) Occasionally follows – forceful potty training, use of uncomfortable toilets (on holiday/at school) or psychological family stress

Question 254

How does constipation cause soiling?

Answer 254

Child avoids toileting due to pain Prolonged faecal status = resorption of fluids = increase in size and constistency Can lead to stretching of the rectum (stools withheld for a long time due to not wanting to defecate) This leads to reduced sensation Which can lead to overflow and soiling

Question 255

What are some red flags to be aware of in a constipated child?

Answer 255

Delayed passage of meconium – Hirshprung’s, CF Fever, vomiting, bloody diarrhoea Failure to thrive Tight empty rectum and palpable abdo mass – Hirshprung’s Ejection of stools on PR – Hirshprung’s Abnormal neuro examination – abdo exam in children should include SPINAL EXAMINATION due to close proximity of the rectum

Question 256

What are the long term complications of constipation?

Answer 256

Acquired megacolon Anal fissues Overflow incontinence (soiling) Behavioural problems

Question 257

What are some differential diagnoses for constipation in children?

Answer 257

Hirschsprung’s Anorectal malformations Spina bifida Neuromuscular disease Hypothyroidism Hypercalcaemia Coeliac Food allergy/intolerance CF Sexual abuse Poor diet

Question 258

What investigations need to be done for constipation?

Answer 258

Clinical diagnosis Abdo exam – hard stools palpable Further Ix only if organic cause suspected

Question 259

How is constipation treated?

Answer 259

Diet, fluids, exercise Toilet training – sit after breakfast/lunch/dinner Star charts – simple reward scheme Medications Softener – lactulose Movicol Stimulant – senna, dulcolax Bulking agent – fybogel

Question 260

What are the pathological features of Crohn’s disease?

Answer 260

Affects the mouth to anus Transmural inflammation Discontinuous with skip lesions GRANULOMATOUS Rectal sparing Fissures, fistulae, abscesses and strictures Perianal disease

Question 261

What causes Crohn’s disease?

Answer 261

Unkown

Question 262

How does Crohn’s disease present in paediatrics?

Answer 262

FAILURE TO THRIVE – poor growth, delayed puberty Abdominal pain Diarrhoea Rectal bleeding Tiredness/malaise Extra GI symptoms – fever, arthritis, uveitis Can present identical to anorexia nervosa – important to think about this

Question 263

What is the main differential diagnosis for Crohn’s?

Answer 263

Ulcerative colitis

Question 264

How is Crohn’s investigated?

Answer 264

Clinical examination Endoscopy Histology – look for granulomas Biochemistry – inflammatory markers

Question 265

How is Crohn’s treated in paeds?

Answer 265

Exclusive enteral nutrition – feed them loads of milk for 7-8 weeks and they get better Corticosteroids – prednisolone, budenoside Aminosalicylates – sulfasalazine, mesalazine Antibiotics Immunomodulators – MTX, azathioprine, 6-mecaptopurine Biologics – infliximab, adalimumab Surgery

Question 266

What are the pathological features of UC?

Answer 266

Affects ONLY the colon And ONLY the mucosa No granulomas No skip lesions – the whole colon is affected Ulcers Increased risk of adenocarcinoma in adulthood

Question 267

How does ulcerative colitis present in paeds?

Answer 267

Failure to thrive/weight loss Rectal bleeding Diarrhoea Colicky pain Extra GI – mouth ulcers, arthritis, erythema nodosum, spondylitis

Question 268

What are some differential diagnoses for UC?

Answer 268

Crohn’s disease Infective causes of colitis e.g. C. Diff

Question 269

How is UC diagnosed?

Answer 269

Colonoscopy – friable membranes (bleeding), visible ulcers

Question 270

How to treat ulcerative colitis?

Answer 270

Mild attacks – topical steroids when confined to rectum/sigmoid colon, sulfasalazine for more extensive disease Severe disease –systemic steroids 1/3 patients – colectomy (curative)

Question 271

What is the first step of asthma management?

Answer 271

Very low dose inhaled corticosteroid Plus salbutamol PRN

Question 272

What are the Fraser guidelines?

Answer 272

Used to assess if a patient who has not yet reached age is competent to consent to treatment. Criteria: Understands the professional’s advice Cannot be persuaded to inform their parents Likely to begin or continue sexual intercourse without contraception Physical and mental health will suffer if they don’t get the contraceptive treatment The young person’s best interests require them to receive contraceptive treatment with or without parental consent

Question 273

What is the main risk factor for neonatal respiratory distress syndrome?

Answer 273

Prematurity

Question 274

What is the main risk factor for transient tachypnoea of the newborn?

Answer 274

Caesarean section

Question 275

What are the features of a severe asthma attack?

Answer 275

SpO2 < 92% PEF 33-50% Too breathless to talk or feed Heart rate - >125 (>5 years), >140 (1-5 years) Resp. rate > 30/min (> 5 years), > 40 (1-5 years) Use of accessory neck muscles

Question 276

What are the criteria for a life threatening asthma attack?

Answer 276

SpO2 < 92% PEF < 33% Silent chest Poor respiratory effort Agitation Altered consciousness Cyanosis

Question 277

What causes measles?

Answer 277

Infection with the measles virus Droplet infection is the method of transmission Highly contagious

Question 278

What is the main risk factor for contracting measles?

Answer 278

Avoidance of the MMR vaccination

Question 279

What are the symptoms of measles?

Answer 279

PRODROMAL SYMPTOMS - CCCK: Cough Coryza (runny nose/cold like symptoms) Conjunctivitis Koplick spots (white spots on the buccal mucosa – pathognomonic) RASH – maculopapular, spreads downwards from behind the ears to the whole of the body Fever Marked malaise

Question 280

What are some complications of measles?

Answer 280

Respiratory – pneumonia, otitis media, tracheitis Neurological – febrile convulsions, encephalitis Diarrhoea Hepatitis Corneal ulceratoin Appendicits Myocarditis

Question 281

How is measles diagnosed?

Answer 281

Clinical diagnosis Can confirm with serological testing of blood or saliva

Question 282

How is measles treated?

Answer 282

VIRAL ILLNESS so supportive treatment only (symptomatic, fluids If needed, isolate if in hospital) Antivirals in immune compromised School exclusion for 5 days from onset of rash Best treatment – preventative vaccine

Question 283

What are the risk factors for developing mumps?

Answer 283

Unvaccinated children

Question 284

What are the clinical features of mumps?

Answer 284

Fever Malaise Parotitis (swollen parotid gland) May complain of pain eating and drinking May complain of earache Hearing loss can occur – usually unilateral and transient

Question 285

What are some complications of mumps?

Answer 285

Viral meningitis and encephalitis Orchitis – reduced sperm count in males Oophoritis Mastitis Arthritis

Question 286

How is measles diagnosed and managed?

Answer 286

Clinical diagnosis Management – symptomatic (viral illness) School exclusion for 7 days from onset of parotitis

Question 287

What time of year do you expect to see rubella virus?

Answer 287

Winter and spring months (could be a hint in questions)

Question 288

Describe the rash seen in Rubella

Answer 288

Maculopapular rash starting on the face and spreading across the entire body NOT itchy in children (but is in adults)

Question 289

Rubella is a diagnosis made clinically. In which situation would you need to perform serological testing to confirm your diagnosis?

Answer 289

When there is a risk of exposure to non-immune pregnant lady Congenital Rubella – cataracts and sensorineural deafness

Question 290

How is rubella treated?

Answer 290

No effective anti-viral treatment Usually resolves in 3-5 days Prevention lies in immunisation

Question 291

How are the human herpes viruses transmitted?

Answer 291

Through mucous membranes of skin Kissing Genital contact Vertical transmission at birth

Question 292

How do herpes simplex viruses present?

Answer 292

Gingiostomatitis – sores on the lips, gums, tongue and hard palate – can lead to ulceration and bleeding, common reason why child may refuse to eat or drink Cold sores Herpetic whitlows – in thumb suckers Conjunctivitis and inflammation of the eyelids CNS infection – aseptic meningitis (self-resolving), encephalitis

Question 293

How is herpes simplex diagnosed and treated?

Answer 293

Clinical diagnosis Acyclovir Give during pregnancy especially to stop transmission to baby

Question 294

Which infecting organism causes chickenpox and what other infection may it cause?

Answer 294

Varicella zoster virus (human herpes virus 3) May also cause shingles virus later in life – reactivation and then a rash appears in a dermatomal distribution

Question 295

How is chickenpox spread?

Answer 295

Droplet infection via the respiratory route Highly infectious – contagious from 2 days before the rash appears and until it disappears

Question 296

Describe the rash seen in chickenpox?

Answer 296

Vesicular rash Very itchy Starts on the head and trunk and progresses to the peripheries

Question 297

What is the typical prodrome of chickenpox?

Answer 297

High fever – 38-39*C Usually stops when the rash appears

Question 298

What are some complications of chickenpox in the immunocompromised?

Answer 298

Haemorrhagic lesions Pneumonitis Progressive and widespread infection DIC

Question 299

How is chickenpox managed?

Answer 299

Camomile lotion to stop the itching Keep away from high risk individuals – i.e. don’t put them anywhere near a clinical area in which there are immune suppressed patients

Question 300

How do you protect immune compromised invidiuals who have been exposed to chickenpox?

Answer 300

Human varicella zoster immunoglobulin (HVZIG) (bone marrow transplant patients, congenital or aquired immune deficiency, steroids, neonates)

Question 301

What are the clinical features of glandular fever and which organism causes it?

Answer 301

Fever Malaise and extreme lethargy Tonsillopharyngitis Prominent cervical lymphadenopathy Petechiae on soft palate Splenomegaly Hepatomegaly Maculopapular rash Jaundice Caused by Epstein Barr virus

Question 302

What investigations can be done for EBV?

Answer 302

Positive monospot test Seroconversion – IgG to Epstein-Barr virus antigens Treatment = symptomatic

Question 303

What childhood rash is caused by HHV6?

Answer 303

Roseola infantum Generalised macular rash which appears after the prodromal fever wanes Common cause of febrile convulsions

Question 304

What is the presentation of “slapped cheek syndrome” and which infecting organism causes it?

Answer 304

Most common during spring Fever, malaise, headache, myalgia – prodromal Characteristic cheek rash – looks like they have been slapped on the cheeks Progresses to maculopapular rash on the trunk and limbs Caused by parvovirus b19

Question 305

What is the pathology of parvovirus B19 and which group of children is this dangerous for?

Answer 305

Infects the red cell precursors in the bone marrow Can lead to aplastic crisis in children with chronic haemolytic anaemias (sickle cell, thalassaemia) and immunocompromised children

Question 306

What infection is caused by coxsackie virus?

Answer 306

Hand, foot and mouth disease

Question 307

What are the symptoms of hand, foot and mouth disease?

Answer 307

Painful vesicular lesions on the hands and feet Painful ulcers in the mouth and on the tongue Systemic features are mild Subsides in a few days

Question 308

Which ways can staph aureus cause disease?

Answer 308

Direct effect – abscess, cellulitis, oesteomyeltitis, impetigo, septic arthritis, septicaemia Toxin-mediated (indirect) – TSS, food poisoning Toxin-mediated (direct) – scalded skin syndrome

Question 309

Which infecting organism causes scarlet fever?

Answer 309

Strep. Pyogenes (group A beta haemolytic strep) Same bacteria that causes strep throat

Question 310

What does impetigo look like, what causes it and how is it treated?

Answer 310

Honey coloured crusted lesions, often on the face Staph aureus or group A strep (pyogenes) Treatment – fucidic acid (topical treatment) or erythromycin

Question 311

Which bacterium causes boils?

Answer 311

Staph aureus

Question 312

How are pneumococcal infections spread?

Answer 312

Droplet infection Strep. Pneumoniae can be carried asymptomatically in the nasopharynx of health children – only spread and cause disease when they cough or sneeze

Question 313

What diseases are caused by strep. Pneumoniae?

Answer 313

Pharyngitis Otitis meida Conjunctivitis Invasive disease – pneumonia, sepsis, meningitis

Question 314

Which bacterium is responsible for toxic shock syndrome and how does it present?

Answer 314

Toxin producing staph and strep High fever Diffuse macular rash Hypotension Shock Other symptoms – muscle pain, vomiting, headache, altered consciousness, desquamation of the hands and feet

Question 315

How is toxic shock syndrome managed?

Answer 315

ICU to manage shock Surgical debridement of infected areas IVIG – neutralises circulating toxin

Question 316

What are the symptoms, cause and treatment of scalded skin syndrome?

Answer 316

Fever malaise Purulent, crusting, localised infection (around eyes, nose and mouth) Widespread erythema and tenderness of the skin Cause – staphyloccocus aureus toxin Treatment – IV fluclox, monitor fluid balance, analgesia

Question 317

What are the symptoms, cause and treatment of necrotising fasciitis?

Answer 317

Large visible necrotic areas of skin – affecting all the layers of the skin and fascia Usually staph or group A strep (pyogenes) Treatment – IV abx PLUS surgical debridement

Question 318

Which age group and racial group are susceptible to Kawasaki’s disease?

Answer 318

6 months to 5 years More common in japanese and Afro-Caribbean infants

Question 319

What causes Kawasaki’s disease?

Answer 319

Unknown Thought to be related to bacterial toxins

Question 320

What are the diagnostic criteria for Kawasaki’s disease?

Answer 320

Fever for > 5 days Plus 4/5 of the following: Cervical lymphadenopathy Bilateral conjunctival injection Changes to the hands and feet – peeling of the skin on the hands and feet/palmar and plantar erythema A rash Changes the mouth or throat – dry, cracked lips/red swollen tongue

Question 321

What is the most serious complication of Kawasaki disease and therefore the most important investigation?

Answer 321

Coronary artery aneursysms Need to perform a echocardiogram (the diagnosis is otherwise clinical so no other investigations need to be performed)

Question 322

How is Kawasaki’s disease treated?

Answer 322

IVIG Aspirin

Question 323

Kawasaki’s is one of the only indications for aspirin in children. Why is it normally contraindicated in children?

Answer 323

Due to the risk of Reye’s syndrome (causes swelling of the liver and brain)

Question 324

What is the most common cause of septic shock in children?

Answer 324

Meningococcal infection (Neisseria meningitidis) Which may or may not be accompanied by meningitis !!

Question 325

What is the most common cause of septicaemia in neonates?

Answer 325

Group B streptoccous Or gram negative organisms acquired from the birth canal

Question 326

What are some risk factors for septicaemia?

Answer 326

Sickle cell disease Immunodeficiency

Question 327

What are the symptoms of septicaemia?

Answer 327

Fever Poor feeding Miserable/irritable Lethargy/drowsiness History of focal infection – meningitis, osteomyelitis, gastroenteritis, cellulitis

Question 328

What are the signs of septicaemia?

Answer 328

Fever Purpuric non-blanching rash (meningococcal septicaemia specifically) Irritability Signs of shock Cold peripheries Reduced cap refil Pale Hypotension Tachycardia Oliguria

Question 329

What investigations would you do in a child you in which are worried about sepsis?

Answer 329

SEPTIC SCREEN: FBC, U&E Blood cultures Urine sample – MC&S CSF sample Chest XR Acute phase reactant e.g. CRP

Question 330

How do you treat septicaemia?

Answer 330

Aggressive fluid resuscitation Potential transfer to intensive care Start broad spectrum antibiotics before cultures come back

Question 331

What are the non-infective causes of meningitis?

Answer 331

Sterile meningitis can be caused by: Malignancy Autoimmune diseases

Question 332

What are the bacterial causes of meningitis?

Answer 332

Neonates - GBS, E.coli, listeria monocytogenes 1 months – 6 years – meningococcus, pneumonoccus, haemophilus influenzae >6 years – meningococcus and pneumococcus Rarely - TB

Question 333

What are the viral causes of meningitis?

Answer 333

Enteroviruses EBV Adenoviruses Mumps

Question 334

What are the symptoms of meningitis?

Answer 334

Fever Headache Photophobia Lethargy Poor feeding/vomiting Irritability Hypotonia (the baby or child will be floppy) Drowsiness Loss of consciousness Seizures

Question 335

What are the signs of meningitis?

Answer 335

Fever Purpuric non-blanching rash (if meningococcal sepsis) Neck stiffness Positive Brudzinki’s sign – flexion of the neck causes flexion of the knees Positive Kernig’s sign – back pain on extension of the knee Bulging fontanelle Opisthotonos

Question 336

What investigations would you do if you suspected meningitis?

Answer 336

FBC and white cell Blood glucose and gas CRP U&E LFTs Cutures - blood, throat swab Lumbar puncture (unless contraindicated) Consider CT/MRI brain

Question 337

What are the contraindications for LP?

Answer 337

Signs of raised ICP Focal neurological signs Bleeding problems Local infection at site of LP Cardiorespiratory instability If it will unduly delay the starting of antibiotics

Question 338

What are some complications of meningitis?

Answer 338

Hearing loss Long term neurological impairment Hydrocephalus Cerebral abscess Encephalitis

Question 339

What CSF changes would you expect to see in bacterial meningitis?

Answer 339

Cloudy colour Raised polymorphs (neutrophils, eosionophils, basophils) Raised protein Decreased glucose

Question 340

What CSF changes would you expect to see in viral meningitis?

Answer 340

Clear colour CSF Raised lymphocytes Normal protein Normal glucose

Question 341

How is meningitis treated?

Answer 341

Immediate IV antibiotic treatment – cefotaxime or ceftriaxone Supportive therapy (IV fluids, pain relief)

Question 342

Which strains of meningitis are vaccinated against?

Answer 342

Meningitis B – 8 weeks, 16 weeks, 1 year Meningitis C – 1 year ACWY – offered to teenagers/first year university students

Question 343

Which antibiotic should be given as meningitis prophylaxis for close/household contacts?

Answer 343

Rifampicin

Question 344

What is encephalitis?

Answer 344

Inflammation of the brain parenchyma Can be difficult to differentiate from meningitis clinically at first

Question 345

What are the most common causes of encephalitis in the UK?

Answer 345

Enteroviruses Respiratory viruses Herpes viruses

Question 346

What is the clinical presentation for encephalitis?

Answer 346

Fever Headache Photophobia Neck stiffness (same clinical presentation as meningitis) Can also feature behavioural change

Question 347

How do you investigate encephalitis?

Answer 347

FBC U&E Lumbar puncture Blood cultures

Question 348

How do you treat encephalitis?

Answer 348

Antibiotic cover in the event it could be bacterial meningitis Acyclovir - to cover HSV possibility

Question 349

How do you investigate and treat tuberculosis?

Answer 349

Mantoux test Quadruple therapy – RIPE Rifampicin Isoniazid Pyrazinamide Ethambutol 6 months of R + I, 2 months of P + E (6, 6, 2, 2)

Question 350

What is the main reason for children having HIV?

Answer 350

Vertical transmission from an HIV infected mother

Question 351

How does HIV present in children?

Answer 351

Symptoms of immunosuppression: Recurrent bacterial infections Candidiasis Opportunistic infections e.g. Pneumocystis jiroveci Severe failure to thrive Malignancy Any usual collections of infections should make you think of immune deficiency

Question 352

How is HIV tested for in children?

Answer 352

HIV DNA CPR blood test

Question 353

How do you reduce vertical transmission of HIV?

Answer 353

Avoid breast feeding Use of antenatal, perinatal and post-nastal antiretroviral to suppress viral replication Avoidance of labour and contact with the birth canal – planned C-section

Question 354

How do vaccines work?

Answer 354

Induce T and B cell (antibody) immunity for organisms/toxins Induce immunological memory – so if you come into contact with the organism again, you can fight it due to the presence of memory immunity Herd immunity - important as well as individual protection as it protects those who haven’t been immunised

Question 355

What is the difference between active and passive immunity?

Answer 355

Active immunity – give them part of the pathogen Passive immunity – give them antibodies to the pathogen instead

Question 356

Which vaccines are live attenuated?

Answer 356

MMR BCG Nasal flu Rotavirus Chickenpox

Question 357

Which vaccines are routinely given?

Answer 357

Tetanus Diphtheria Whooping cough Polio Measles Mumps Rubella Hib (Haemophilus influenza B) Men C Prevnar 13 (pneumococcal – strep pneumoniae) Rotavirus Meningitis B

Question 358

Which vaccines can be given additionally?

Answer 358

Pneumococcus Meningococcus ACWY Varicella TB Hepatitis Influenza HPV

Question 359

Which vaccines are given at 2 months?

Answer 359

Tetanus Diptheria Pertussis Polio HiB Prev 13 Men B

Question 360

Which vaccines are given at 3 months?

Answer 360

Tetanus Diptheria Pertussis Polio Hib Men C

Question 361

Which vaccines are given at 4 months?

Answer 361

Tetanus Diptheria Pertussis Polio Hib Prevnar 13 (pneumococcal) Men B (same as at 2 months – boosters of all of these)

Question 362

Which vaccines are given at 1 year?

Answer 362

Hib Prev 13 Men B Men C MMR

Question 363

Which vaccines are given at 3-4 years?

Answer 363

Tetanus Dip Pertussis Polio Flu

Question 364

Which vaccines are given at 13 years?

Answer 364

Tetanus booster Men ACWY HPV (girls only) Flu (some)

Question 365

What is the definition of an allergy?

Answer 365

A hypersensitive reaction initiated by specific immunoglobulins Can be IgE mediated – i.e. peanut allergy Or non-IgE mediated – i.e. coeliac disease

Question 366

What is the definition of hypersensitivity?

Answer 366

Objectively reproduceable symptoms or signs following a defined stimulus (e.g. food, drug, venom) at a dose tolerated by a normal person

Question 367

What is the definition of atopy?

Answer 367

A personal/familial tendency to produce IgE in response to ordinary exposures to allergens (results in ashtma, hayfever, conjunctivitis or eczema)

Question 368

Define anaphylaxis

Answer 368

A severe, life threatening hypersensitivity reaction

Question 369

How is anaphylaxis treated?

Answer 369

Stat does of adrenaline (i.e. giving through an epi pen)

Question 370

How does allergic rhinitis present?

Answer 370

Coryza Conjunctivitis Postnasal drip causing cough

Question 371

How is allergic rhinitis treated?

Answer 371

Antihistamines (used singly or in combination) Steroid nasal sprays Cromoglicate eye drops Leukotriene inhibitors Oral steroids Specific immunotherapy

Question 372

What are some causes of primary immune deficiency?

Answer 372

Severe combined immunodeficiecny X-Linked agammaglobulinaemia (assoc. w pneumocystis jiroveci) Defects of bacterial phagocyte function Defects in leucocyte function Minor immunoglobulin abnormalities Opsonisation defects

Question 373

What are some causes of secondary immune deficiency?

Answer 373

Malignancy HIV Bone marrow transplant Steroid/immune supressant drugs

Question 374

Which type of infecting organisms would raise your suspicion about immune deficiency?

Answer 374

Candida PCP (pneumocystis jiroveci) Aspergillus These are all fungal infections

Question 375

How do you investigate immune deficiency?

Answer 375

Full blood count White cell count Lymphocytes Blood film Neutrophils complement Immunoglobulins

Question 376

How are immune deficiencies treated?

Answer 376

Antibiotic prophylaxis to prevent infection – e.g. co-trimoxazole to prevent PCP Appropriate ABx to treat infections Immunoglobulin replacement therapy for defects in antibody function or production Bone marrow transplant for severe immune deficiency Hope for the future – gene therapy (due to the genetic component of these illnesses)

Question 377

How many respiratory infections does an average pre-school child have each year?

Answer 377

6-8 Mostly self limiting – ear, nose, throat (URT) Some are more dangerous – bronchiolitis, pneumonia (LRT)

Question 378

What is the most common way a child will present with an URTI?

Answer 378

Nasal discharge and blockage Fever Painful throat Earache Cough may also be present and troublesome

Question 379

What are the clinical features of the common cold (coryza) and the most common causative organisms?

Answer 379

Features – clear or mucopurulent nasal discharge, nasal blockage Commonest pathogens are VIRAL – rhinoviruses (hundreds of subtypes), coronaviruses, RSV

Question 380

How is the common cold treated?

Answer 380

Education to parents that colds are self-limiting and have no specific curative treatment (to reduce anxiety and reduce un-necessary visits to the doctor) Paracetamol or ibuprofen – for fever and pain NO BENEFIT OF ANTIBIOTICS as it’s a viral infection and secondary bacterial infections are very uncommon

Question 381

What are the common causes of pharyngitis (sore throat)?

Answer 381

Usually viral – adenoviruses, enteroviruses, rhinoviruses In older children - group A beta haemolytic strep (pyogenes) is very common Leave alone if viral Fluclox if suspect strep throat

Question 382

What are the most common causes of tonsillitis?

Answer 382

Tonsillitis = inflammation of the pharyngeal tonsils Commonest organisms = group A beta-haemolytic strep and EBV Viruses are the most common cause, however it’s clinically impossible to distinguish between bacterial and viral

Question 383

What are the symptoms more commonly associated with bacterial tonsilitis?

Answer 383

Headache Apathy Abdominal pain Tonsillar exudate Cervical lymphadenopathy

Question 384

How is bacterial tonsillitis treated?

Answer 384

Penicillin Erythromycin if allergic Many cases treated with Abx even when only 1/3 estimated to be bacterial Amoxicillin avoided as can cause rash if due to EBV

Question 385

What are the indications for tonsillectomy?

Answer 385

>7 infections of recurrent acute tonsillitis in a year Obstructive sleep apnoea/sleep disordered breathing (this is now the main reason for tonsillectomy) A peri-tonsillar abscess (quinsy)

Question 386

What are the indications for adeno-tonsillectomy?

Answer 386

Otitis media with effusion with hearing loss Obstructive sleep apnoea

Question 387

How does acute otitis media present and which age-group of children are most commonly affected by it?

Answer 387

Presentation: Irritable/miserable child pulling at their ear (ear pain) Fever Most common at 6-12 months of age Most children will experience it at least once

Question 388

What will the tympanic membrane look like on examination in a child with otitis media?

Answer 388

Bright red Bulging appearance Loss of normal light reflection

Question 389

Which pathogens are typically responsible for otitis media?

Answer 389

RSV Rhinovirus Pneumococcus (strep pneumoniae) H. influenzae Moraxella catarrhalis Strep. Pyogenes (group A beta haemolytic)

Question 390

How is acute otitis media treated?

Answer 390

Ibuprofen and paracetamol for pain 80% resolve spontaneously Amoxicillin

Question 391

What are some complications of otitis media?

Answer 391

Extracranial – mastoiditis, tympanic membrane perforation, glue ear Intracranial – meningitis, abscess, venous sinus thrombosis

Question 392

What is otitis media with effusion?

Answer 392

Aka glue ear Recurrent OM infections leading to reducing hearing The most common cause of conductive hearing loss in children

Question 393

What would the tympanic membrane look like in a child with glue ear?

Answer 393

TM appears dull and retracted Often with a visible fluid level

Question 394

How can hearing loss due to glue ear be treated?

Answer 394

Most cases resolve spontaneously But can be treated with the insertion of grommets (ventilation tubes) – drains the excess fluid away from the tympanic membrane

Question 395

How is sinusitis treated?

Answer 395

Infection of the paranasal sinuses Usually viral so symptomatic treatment If bacterial – antibiotics and analgesia

Question 396

What is the most common cause of obstructive sleep apnoea in children?

Answer 396

Upper airway obstruction secondary to adeno-tonsillar hypertrophy

Question 397

How does sleep disordered breathing in childhood present?

Answer 397

Loud snoring Apnoea for 30-45 seconds Disturbed sleep Some children may be obese, underweight, hyperactive in the day or excessively sleepy during the day

Question 398

How would sleep disordered breathing be investigated?

Answer 398

Overnight sleep studies Showing intermittent hypoxia and hypercapnia

Question 399

How is sleep disordered breathing treated?

Answer 399

Adeno-tonsillectomy

Question 400

What is the definition of croup?

Answer 400

Inflammation of the larynx and trachea in children Associated with infection Causes breathing difficulties

Question 401

What is the most common cause of croup?

Answer 401

Parainfluenza viruses

Question 402

Which age group is affected by croup and which time of year is it seen mostly?

Answer 402

6 months – 6 years Most common in autumn

Question 403

What are the clinical features of croup?

Answer 403

Initially – fever and coryza Barking cough – “seal like” Harsh stridor Hoarseness Symptoms often start and are worse at night

Question 404

How is croup managed? (first line and other)

Answer 404

FIRST LINE = ORAL DEXAMETHASONE single dose Nebulised epinephrine for severe croup Oral prednisolone Nebulised steroids If < 12 months – low threshold for hospital admission

Question 405

What causes acute epiglottitis?

Answer 405

Haemophilus influenza B (bacterial infection) Life threatening emergency

Question 406

Why has the incidence of acute epiglottitis gone down?

Answer 406

Due to the introduction of HiB vaccine

Question 407

How does acute epiglottitis present?

Answer 407

Very acute onset High fever in an unwell, toxic looking child Extremely painful throat – cannot speak or swallow – drooling saliva down the chin SOFT stridor Increasing respiratory difficulty Child sits immobile, upright with an OPEN MOUTH to optimise airway No/minimal cough

Question 408

How is acute epiglottitis managed?

Answer 408

URGENT hospital admission DO NOT EXAMINE THE THROAT Senior anaesthetist Paediatrician ENT surgeon Intubate/emergency tracheostomy if needed Once airway is secured – blood cultures Start cefuroxime Abx for 3-5 days Rifampicin prophylaxis offered to household contacts

Question 409

What type of infection is whooping cough and what is it caused by?

Answer 409

Whooping cough is caused by Bordetella Pertussis (bacterial) It’s a highly infectious form of bronchitis (inflammation of the bronchi)

Question 410

How does whooping cough present?

Answer 410

Coryza for 1 week (catarrhal phase) Then paroxysmal spasmodic cough Followed by classic inspiratory whoop (paroxysmal phase) Spasms of cough often worse at night May vomit after the coughing episodes No breathing difficulty as no gas exchange happens at the bronchi. Whereas bronchiolitis will have severe breathing difficulty

Question 411

What investigations would you do for whooping cough?

Answer 411

Nasal swab to detect Bordetella pertussis Marked lymphocytosis on blood film

Question 412

How do you treat whooping cough?

Answer 412

Admit to hospital if suffering cyanotic attacks Erythromycin – treatment for patient and prophylaxis for families Offer vaccine to prevent getting infection again Pregnant women should be vaccinated

Question 413

What is bronchiolitis and which age group does it affect?

Answer 413

Inflammation and infection of the bronchioles Most common respiratory infection of infancy OCCURS IN INFANTS UP TO 1 YEAR OLD RARE AFTER 1 YEAR

Question 414

What causes bronchiolitis?

Answer 414

Respiratory syncytial virus (RSV)

Question 415

What are some risk factors for getting bronchiolitis?

Answer 415

Premature babies Infants with congenital heart disease Infants with CF Infants with any type of immune deficiency

Question 416

How does bronchiolitis present?

Answer 416

Coryzal symptoms Dry cough BREATHLESS Wheeze Feeding difficulty – associated with dyspnoea

Question 417

What signs would you see on examination of a baby with bronchiolitis?

Answer 417

Tachypnoea Subcostal and intercostal recessions Hyperinflation of the chest Fine end-inspiratory crackles High-pitched wheezes Tachycardia Low O2 SATS Cyanosis/pallor

Question 418

What investigations might you do in a child presenting with bronchiolitis?

Answer 418

RSV can be identified on nasopharyngeal secretions using immunofluorescence CXR – hyperinflation of the lungs due to small airways obstruction Blood gas (in severe cases) – lowered arterial oxygen and raised CO2

Question 419

How is bronchiolitis managed?

Answer 419

SUPPORTIVE TREATMENT ONLY due to viral infection Humidified oxygen Fluids if needed – IV, NG Mechanical ventilation in 2% of infants admitted

Question 420

What preventative treatment can be given for bronchiolitis, who receives it, and how often?

Answer 420

Palivizumab – a monoclonal antibody vaccine to RSV Given to high risk individuals – preterm, CF, congenital heart/lung disease IM injection once a month

Question 421

What is the definition of pneumonia?

Answer 421

Pneumonia = infection and inflammation of the lung parenchyma Can be viral or bacterial

Question 422

What are the most common causes of pneumonia in the newborn?

Answer 422

Group B streptococcus Gram negative enterococci These are caught from the mother’s genital tract

Question 423

What are the common causes of pneumonia in infants and young children?

Answer 423

Bacterial – strep pnuemoniae, H. Influenzae, bordetella pertussis, chlamidya, staph aureus Viral – RSV mainly. Also rhino and other respiratory viruses

Question 424

What are the causes of pneumonia in children over 5 years?

Answer 424

Strep pneumoniae Chlamidya pneumoniae Klebsiella pneumoniae Myoplasma pneumoniae Mycobacterium TB - should be considered at all ages

Question 425

What are the most common causes of pneumonia in the immune compromised?

Answer 425

Pneumocystis jiroveci TB

Question 426

What are the pathological stages of pneumonia?

Answer 426

Congestion Red hepatisation Grey hepatisation Resolution

Question 427

What are the symptoms of pneumonia?

Answer 427

Usually preceded by URTI Fever >38.5* Difficulty breathing Cough – productive Lethargy Poor feeding Unwell Chest, neck or abdominal pain Grunting

Question 428

What are the signs of pneumonia?

Answer 428

Tachypnoea Nasal flaring Chest in drawing Chest hyperinflation and wheeze – viral or mycoplasma infection End-inspiratory crackles over the affected area Possible decreased oxygen saturations

Question 429

What investigations assist a diagnosis of pneumonia?

Answer 429

Chest X-Ray – dense white area if lobar pneumonia caused by strep pneumoniae Nasopharyngeal aspirate FBC, WCC etc.

Question 430

Most cases of pneumonia are managed at home. What would be the indications for hospital admission?

Answer 430

O2 sats < 93% Severe tachypnoea and difficulty breathing Grunting Apnoea Not feeding Family unable to provide appropriate care

Question 431

How is pneumonia treated?

Answer 431

Supportive – analgesia, O2, fluids Antibiotics - Newborns = broad spec, Older infants = oral amoxicillin or erythromycin

Question 432

What is the definition of wheeze?

Answer 432

An expiratory, polyphonic breathing sound Created by air being forced through a narrow air passage

Question 433

What are the 3 phenotypes of childhood asthma?

Answer 433

Transient early wheezing Non-atopic wheezing in the pre-school child (viral episodic wheeze) IgE-mediated wheezing (atopic ashtma)

Question 434

What are some causes of wheeze in childhood?

Answer 434

Transient early wheezing Viral episodic wheeze Asthma Chronic aspiration of feeds CF Inhaled foreign body

Question 435

Which types of cells are involved in atopic asthma?

Answer 435

Eosinophils Lymphocytes Mast cells Neutrophils

Question 436

What is the presentation of a transient early wheezer?

Answer 436

Virus associated Decreased lung function from birth – small airway calibre Risk factors – maternal smoking, prematurity. NO relation to FH of asthma More common in males Usually “grow out of it” by age of 5

Question 437

What is the presentation of a non-atopic wheezer?

Answer 437

Normal lung function in early life Then become episodic viral wheezers in first 10 years of life Symptoms improve during adolescence No interval symptoms – ONLY GET WHEEZY WHEN THEY HAVE A VIRUS No atopy No benefit from regular ICS Most common cause = rhinovirus (common cold)

Question 438

How are viral episodic wheezers treated?

Answer 438

PRN salbutamol inhaler

Question 439

How does atopic asthma present?

Answer 439

Normal lung function at birth Recurrent wheeze develops with allergic sensitisation (increased IgE in blood, positive skin prick test to common allergens) PERSISTENT symptoms – but may be worse during an infection Risk factors – family history, eczema Symptoms: Cough Wheeze Breathlessness Tight chest Diurnal variation of symptoms

Question 440

How is asthma diagnosed?

Answer 440

Clinical diagnosis – consider disease pattern (i.e. symptoms only when they have a cold = episodic viral wheezer, symptoms all the time = asthma) Skin prick test for common allergens Peak flow diary Bronchodilator responsiveness – PEF will increase by 1—15% after inhaling a bronchodilator

Question 441

What is the first line treatment for atopic asthma?

Answer 441

British thoracic society says that everyone with a new diagnosis of asthma should be given: A SABA (short acting B2 agonist such as salbutamol) AND a low-dose inhaled corticosteroid (such as beclametasone)

Question 442

What is the 2nd line treatment for asthma?

Answer 442

In children under 5 – add a leukotrine receptor antagonist (e.g. montelukast) In children 5 or over – add a LABA (long acting beta 2 agonist – such as salmeterol)

Question 443

How is an acute asthma attack managed?

Answer 443

Oxygen Nebulised or inhaled beta 2 agonist IV steroid (prednisolone or hydrocortisone) Atrovent nebuliser IV salbutamol bolus Magnesium sulphate/aminophylline/salbutamol infusion Follow this stepwise management

Question 444

What is the best way to increase the bioavailability of inhaled corticosteroids?

Answer 444

Using a spacer

Question 445

What are some possible long-term risks of using ICS?

Answer 445

Adrenal suppression Growth suppression Osteoporosis Diabetes Cataracts Important to ensure your patient is on the minimum possible dose to minimise the side effects

Question 446

Why may a patient failure to respond to treatment?

Answer 446

ABCDE of failure to respond: A – Adherence (most common reason is they aren’t taking it properly) B – Bad disease (dose not adequate for severity of disease) C – Choice of drug/device (certain people respond differently to different treatments) D – Diagnosis may be incorrect E – Environment (there’s an obvious environmental trigger making the symptoms worse – e.g. asking about pets and parental smoking in children with asthma)

Question 447

What is the most common cause of recurrent cough in childhood?

Answer 447

Asthma

Question 448

What are some other causes of recurrent cough in childhood?

Answer 448

Recurrent colds Allergic rhinitis (post-nasal drip can cause a cough) Infections – pertussis, RSV, TB Reflux – aspiration can cause cough Cigarette smoking (active or passive) Suppurative lung disease (CF, bronchiectasis, ciliary dyskinesia) TB – MUST be excluded in all children with recurrent cough Habit cough

Question 449

What are the main causes for chronic lung infection in childhood?

Answer 449

CF Primary ciliary dyskinesia Chronic aspiration Immunodeficiency TB

Question 450

Which gene is involved in the pathogenesis of cystic fibrosis?

Answer 450

Cystic fibrosis transmembrane regulator gene (CFTR) On chromosome 7 Inherited by autosomal recessive inheritence Mutation = Delta F 508 mutation

Question 451

How is cystic fibrosis usually picked up?

Answer 451

Diagnosed through the new born screening blood spot programme

Question 452

What are the clinical features of CF in a baby?

Answer 452

Meconium ileus in newborn period Prolonged neonatal jaundice Recurrent chest infections Most commonly = Failure to thrive and Malabsorption, steatorrhoea (foul smelling and mucusy)

Question 453

What are the clinical features of CF in a young child?

Answer 453

Chronic cough Bronchiectasis Rectal prolapse Nasal polyp Sinusitis

Question 454

What are the clinical features of CF in an older child/adolescent?

Answer 454

Allergic bronchopulmonary aspergillosis (ABPA) Diabetes mellitus (often not insulin-depedent) Cirrhosis and portal hypertension Distal intestinal obstruction (DIOS – equivalent to meconium ileus) Pneumothorax or recurrent haemoptysis Sterility in males Increasing psychological problems

Question 455

Which respiratory infections are patients with CF particularly susceptible to?

Answer 455

Staph aureus Haemophilus influenzae Pseudomonas aeruginosa

Question 456

What signs would be found on a chest examination in someone with CF?

Answer 456

Hyperinflation of the chest due to air trapping Coarse inspiratory crepitations And/or expiratory wheeze Finger clubbing with established disease

Question 457

What is the biggest cause of death in CF patients?

Answer 457

95% of patients with CF will die of respiratory failure

Question 458

Why do patients with CF experience malabsorption?

Answer 458

Pancreatic exocrine insufficiency – insufficient amounts of lipase, amylase and proteases produced by the pancreas Therefore they cannot digest and absorb food adequately 🡪 failure to thrive, steatorrhoea LOW faecal elastase demonstrates pancreatic insufficiency

Question 459

What is the diagnostic gold standard for CF?

Answer 459

Sweat test Excessive Na and Cl in the sweat Normal range = 1—30 mmolL CF = 60-125 mmol/L

Question 460

Who is involved in the MDT approach to care of cystic fibrosis?

Answer 460

Child and parents Paediatrician GP and primary care team Respiratory paediatrician Physiotherapist Specialist nurses Genetic counsellor for the family (i.e. brothers and sisters) Dietician Teachers

Question 461

How are the respiratory aspects of CF managed?

Answer 461

Chest physio 2x daily Physical exercise encouraged Continuous prophylactic oral antibiotics – usually flucloxacillin Rescue antibiotics when needed Nebulised DNase – decreases sputum viscosity to increase clearance Oxygen and CPAP may be needed long term Lung transplant

Question 462

How is CF managed from a nutritional point of view?

Answer 462

HIGH CALORIE INTAKE DIET ESSENTIAL – 150% of normal Oral enteric coated pancreatic replacement therapy with all meals and snacks Overnight feeding over gastrostomy Fat-soluble vitamin supplements (A, D, E, K)

Question 463

In the foetal heart in utero, which side is higher in pressure?

Answer 463

The right side has the higher pressure Blood shunts through from the RA to the LA through the foramen ovale Most blood by this mechanism bypasses the lungs

Question 464

Why does the foramen ovale close after birth?

Answer 464

First breath causes pulmonary blood flow to increase This causes a decrease in RA pressure and increase in Lap Causing the flap to close

Question 465

What are the causes of cyanotic heart

Answer 465

Tetralogy of Fallot Transposition of the great vessels Tricuspid Atresia Truncus Arteriosus Total Anomalous Pulmonary venous connection (don’t really know what this is but I’ve put it in for completion) Complete AVSD is also cyanotic

Question 466

How do you differentiate whether the cause of cyanosis is cardiac or respiratory in origin?

Answer 466

Hyperoxic test (give them oxygen) If they get better 🡪 respiratory If they don’t 🡪 cardiac

Question 467

Which is the most common cause of cyanotic congenital heart disease?

Answer 467

Tetralogy of Fallot

Question 468

What are the 4 features of TOF?

Answer 468

Large VSD Overriding aorta Pulmonary stenosis Right ventricular hypertrophy

Question 469

What would the appearance on CXR be of Tetralogy of Fallot?

Answer 469

Boot shaped heart

Question 470

What is the cause of cyanosis in TOF?

Answer 470

Pulmonary hypertension Leading to an increase in RV pressure The RV blood can then flow through the VSD – causing a R🡪L shunt

Question 471

How is ToF usually diagnosed?

Answer 471

Antenatally Or ID of murmur in first 2 months of life Some may present with severe cyanosis in the first few days of life

Question 472

What is the ”classical description” of a child presenting with Tetralogy of Fallot?

Answer 472

Severe cyanosis Hyper-cyanotic spells (rapid increase in cyanosis, inconsolable crying, breathlessness and pallor) Squatting on exercise

Question 473

What type of murmur is head in Tetralogy of Fallot?

Answer 473

Ejection systolic murmur At the left sternal edge (pulmonary region)

Question 474

What other signs may you see on examination of someone with Tetralogy of Fallot?

Answer 474

Clubbing CONGENITAL HEART DISEASE IS A MAJOR CAUSE OF CLUBBING

Question 475

How is Tetralogy of Fallot treated?

Answer 475

Prostaglandins infusion to keep duct open until surgery Corrective surgery at 6-9 months of age

Question 476

What is Transposition of the great vessels?

Answer 476

Aorta is connected to the RV Pulmonary artery is connected to the LV – meaning that deoxygenated blood gets pumped around the body = blue baby This is a DUCT DEPENDANT LESION

Question 477

How does transposition present?

Answer 477

May be diagnosed antenatally Cyanosis may be present at birth Or present on day 1-2 of life when the duct closes Will be less severe if there’s an ASD or VSD allowing mixing NO MURMUR

Question 478

How does transposition appear on CXR?

Answer 478

Looks like an “egg on its side” Echocardiogram confirms diagnosis by demonstrating abnormal arterial connections

Question 479

How is transposition of the great arteries treated acutely?

Answer 479

Prostaglandin infusion to keep the ductus arteriosus open

Question 480

What surgical options are there for transposition of the great vessels?

Answer 480

Balloon atrial septostomy – creates a hole between the 2 atria to allow mixing Arterial switch procedure – the aorta and PA are transected above the valves and switched over. Done ELECTIVELY later in life, not as an emergency straight after birth

Question 481

What is the biggest risk factor for a complete AVSD?

Answer 481

Down’s syndrome All Down’s babies need an echo at birth

Question 482

How does a complete AVSD present?

Answer 482

Either diagnosed antenatally Routine echo in a Down’s baby Cyanosis at birth Heart failure 2-3 weeks of life

Question 483

How is a complete AVSD treated?

Answer 483

Medical treatment for heart failure Surgical repair at 3-6 months

Question 484

How does tricuspid atresia present and how is it treated?

Answer 484

Neonatal cyanosis Treatment – shunting between the subclavian and pulmonary artery

Question 485

What are the causes of non cyanotic congenital heart disease and how do these present?

Answer 485

Left to right shunts (VSD, ASD, PDA) These babies will either be breathless Or asymptomatic and be detected by heart murmur on examination

Question 486

What are the features of a physiological (innocent) murmur?

Answer 486

The 4 S’s: 1. Soft blowing murmur 2. ASymptomatic 3. Left Sternal edge 4. Systolic murmur only

Question 487

If you heard a LOUD pansystolic murmur, what is the most likely diagnosis?

Answer 487

SMALL VSD Large VSD is a much quieter murmur

Question 488

How do large VSDs present?

Answer 488

Breathlessness Heart failure symptoms Failure to thrive

Question 489

What murmur would you heart in aortic stenosis and pulmonary stenosis?

Answer 489

AS – ejection systolic murmur at upper RIGHT sternal edge PS – ejection systolic at LEFT sternal age

Question 490

How does coarctation present?

Answer 490

Circulatory collapse at 2 days old Absent femoral pulses (association with Turner’s syndrome)

Question 491

What would you suspect if you heard a continuous murmur?

Answer 491

PDA

Question 492

Where about is a PDA murmur heard loudest?

Answer 492

Continuous murmur beneath the left clavicle

Question 493

Who is most at risk for a PDA?

Answer 493

Premature babies

Question 494

Which maternal medication in pregnancy is associated with congenital heart defects?

Answer 494

Warfarin

Question 495

What is the most common cardiomyopathy seen in childhood?

Answer 495

Dilated cardiomyopathy

Question 496

What are the causes of dilated cardiomyopathy?

Answer 496

Inherited Secondary to metabolic disease From a direct viral infection of the myocardium (myocarditis)

Question 497

How is dilated cardiomyopathy managed?

Answer 497

Symptomatic treatment – diuretics, ACEi, beta blockers (treat the symptoms of heart failure) Myocarditis usually resolves spontaneously Some children may need a heart transplant

Question 498

What are the causes of heart failure in paediatrics?

Answer 498

Left to R shunts left untreated (volume overload) Coarctation AS, TR, MR Dilated cardiomyopathy Anything that affects all 3 layers – peri, myo and endocarditis, effusions

Question 499

What are the signs and symptoms of left heart failure in children?

Answer 499

SOB and exercise intolerance Palpiations Chest pain Feeding problems (due to breathlessness) Poor/excessive weight gain As a rule in paeds – increase in HR + RR + creps = left heart failure Most common cause = large VSD

Question 500

What are the signs of RHF in paeds?

Answer 500

Peripheral oedema Liver enlargement (more sensitive than JVP) Causes – tricuspid regurg, pulmonary stenosis, large VSD etc. (anything that may cause fluid overload backwards through the IVC)

Question 501

What is the main difference between upper and lower urinary tract infections?

Answer 501

Upper tract infection – involves the kidneys (pyelonephritis) and is associated with fever and systemic involvement Lower tract infection – involves the bladder (cystitis) and is less likely to be associated with a fever or the fever will only be low grade

Question 502

What is the significance of UTI in childhood?

Answer 502

May indicate an underlying structural pathology of the kidneys Recurrent kidney infections can cause renal scarring – predisposing to hypertension and chronic renal failure later in life

Question 503

What is the most common infecting organism in paediatric UTI?

Answer 503

Escherischia Coli Usually via contamination from the bowel

Question 504

What other infecting organisms also cause UTI in children?

Answer 504

Proteus – more common in boys, predisposes to formation of phosphate stones in the urine Pseudomonas – may indicate the presence of structural abnormality in the tract

Question 505

What are some host risk factors for contracting UTI?

Answer 505

Incomplete bladder emptying Vesico-ureteric reflux Structural abnormality e.g. horseshoe kidney, ureteric strictures Inadequate toilet hygiene

Question 506

What are the long-term sequaelae of UTI in childhood?

Answer 506

Post infectious scarring leading to: Hypertension Impaired GFR/chronic renal failure Pregnancy complications

Question 507

How does UTI present in a baby?

Answer 507

Fever lethargy Irritability Vomiting and diarrhoea Poor feeding/failure to thrive Prolonged neonatal jaundice Septicaemia Febrile convulsions (> 6 months)

Question 508

How does UTI present in children?

Answer 508

Dysuria (painful urination) Loin pain or abdominal pain Increased frequency of urination Fever (with or without rigors) Lethargy Anorexia Febrile convulsions Recurrent enuresis (wetting themselves) Haematuria

Question 509

How do you investigate UTI in children?

Answer 509

URINE SAMPLE: Babies – nappy pads, clean catch, in and out catheter, suprapubic aspiration from the bladder using ultrasound guidance Children – midstream urine sample. Should be tested straight away and if not then they must be refrigerated Ultrasound scan Functional scanning – DMSA to look for scarring Micturating cystourethrogram (MCUG) – looks for reflux

Question 510

How do you acutely treat a paediatric UTI?

Answer 510

Antibiotics – usually 3 day course of trimethoprim or 5 days of co-amoxiclav Fluids – keep hydrated to support the kidneys Analgesia (calpol etc.) Adjust antibiotics based on sensitivites once urine sample is returned

Question 511

What steps should be taken to prevent UTI in paediatrics?

Answer 511

Education about perineal hygiene (wipe front to back) Regular voiding High fluid intake to produce high urine output Ensure complete bladder emptying (try a second time after a minute or 2) Prevent and treat constipation Antibiotic prophylaxis in those under 2 with severe reflux (trimethoprim)

Question 512

How should children with renal scarring or reflux be followed up?

Answer 512

Surgery is an option for reflux Long term low dose antibiotic prophylaxis Circumcision Annual BP checks Regular assessment of kidney function and growth

Question 513

What are some causes of proteinuria in children?

Answer 513

Transient proteinuria – fever, exercise Orthostatic (postural) Nephrotic syndrome Hypertension Tubular proteinuria Increased glomerular perfusion pressure

Question 514

What are the features associated with nephrotic syndrome?

Answer 514

Heavy proteinuria Hypoalbuminaemia Oedema Hyperlipidaemia

Question 515

What are the 3 different categories of nephrotic syndrome?

Answer 515

Congenital Steroid sensitive Steroid resistant

Question 516

Which people have a higher risk of steroid sensitive and congenital nephrotic syndrome?

Answer 516

Congenital – Finnish people Steroid sensitive – boys, Asians, atopic children

Question 517

What is the most common cause of nephrotic syndrome in children?

Answer 517

Minimal change disease/minimal change glomerulonephritis

Question 518

What are some other causes of nephrotic syndrome?

Answer 518

HSP and other vasculitides SLE Infections (e.g. malaria) Allergens (e.g. bee sting)

Question 519

What is the classical presentation of nephrotic syndrome?

Answer 519

Frothy urine – caused by significant proteinuria Oedema – pitting and gravitational Periorbital oedema (particular on waking) 🡪 earliest sign Scrotal, vulval, leg and ankle oedema Ascites Breathlessness due to pleural effusions and abdominal distention

Question 520

What is the pathological process of congenital nephrotic syndrome?

Answer 520

Present in first 3 months of life Rare, very serious ESRF and need for dialysis (if survival past first 6-12 months) High mortality

Question 521

What are the features indicative of steroid sensitive nephrotic syndrome?

Answer 521

Age 1-10 years Often precipitated by respiratory infections No macroscopic haematuria Normal BP Normal complement levels Normal renal function No features to suggest nephritis Responds to steroids Normally shows “minimal change” on histology

Question 522

What is the classic pattern of disease in steroid sensitive nephrotic syndrome?

Answer 522

Recurrent relapses throughout childhood 5% of cases continue into adult life Treat with steroids If continues through whole life - may need steroid sparing agent such as methotrexate

Question 523

What are the features suggestive of steroid resistant nephrotic syndrome?

Answer 523

Older children Haematuria Low complement levels (the complement levels build up in the kidneys, may precede SLE) Associtaed with hepatitis B

Question 524

What is the prognosis of steroid resistant nephrotic syndrome?

Answer 524

30% respond to ESRF in 5 years 20% respond to cytotoxic medications Most spontaneously remit in 5 years

Question 525

What investigations must be done for nephrotic syndrome?

Answer 525

Urine dipstick – looking for protein in particular FBC and ESR U&E, creatinine, albumin Complement levels – C3 and C4 Antistreptolysin O titre and throat swab Urine MC&S Urine sodium concentration Hepatitis B antigen

Question 526

How do you treat steroid sensitive nephrotic syndrome?

Answer 526

Standard course of oral prednisolone for first episode Treat with steroids again for subsequent episodes Consider MTX if recurs all the time Restrict sodium and water intake and use diuretics until oedema settles Pen V Measles and chickenpox immunity

Question 527

How do you treat steroid resistant nephrotic syndrome?

Answer 527

Manage oedema – diuretics, salt and fluid restriction, ACEis Could try a cytotoxic medication such as methotrexate

Question 528

What is the difference between glomerular haematuria and lower urinary tract haematuria?

Answer 528

Glomerular haematuria – brown urine, deformed red cells, presence of casts, often accompanied by proteinuria Lower urinary tract – red urine, occurs at the beginning or end of urinary stream, not accompanied by proteinuria

Question 529

What is the most common cause for haematuria in children?

Answer 529

Urinary tract infection NB haematuria will be alongside all the other symptoms associated with UTI (loin pain, dysuria, increased frequency)

Question 530

What are the non-glomerular causes of haematuria?

Answer 530

Infection Trauma Stones (esp. if there’s a family history) Sickle cell disease Bleeding disorders Renal vein thrombosis Malignancy – Wilm’s tumour

Question 531

What are the glomerular causes of haematuria in paeds?

Answer 531

Acute glomerulonephritis Chronic glomerulonephritis IgA nephropathy (Berger’s disease) Familial nephritis Post strep glomerulonephritis Vasculitis – HSP (triad of rash, abdominal pain, arthritis) Goodpasture’s syndrome – anti-GBM disease – very rare, will also cause haemoptysis

Question 532

What investigations do you do in a patient with haematuria?

Answer 532

Urine dipstick Urine MC&S Urine protein and calcium USS – kidneys and urinary tract FBC, U&E, platelets, clotting screen Creatinine and albumin Throat swab and anti-streptolysin O titre ESR & complement levels

Question 533

What are the indications for renal biopsy in a patient with haematuria?

Answer 533

Recurrent macroscopic haematuria Suspicion of familial nephritis Abnormal renal function Abnormal complement levels Proteinuria

Question 534

What is nephritic syndrome?

Answer 534

Aka acute nephritis, glomerular nephritis Haematuria (often macroscopic) Proteinuria – varying degree Impaired GFR – rising creatinine Salt and water retention – hypertension, oedema

Question 535

What causes nephritic syndrome?

Answer 535

Usually follows a strep throat or skin infection (post streptococcal glomerulonephritis) Vasculitis – HSP, SLE, Wegner’s, PNA IgA nephropathy (Berger’s disease) Goodpasture’s syndrome Familial nephritis (Alport’s syndrome, X-linked)

Question 536

Which type of streptococcus is generally responsible for nephritis?

Answer 536

Group A beta haemolytic strep (strep pyogenes)

Question 537

How do you investigate an episode of suspected post-streptococcal glomerulonephritis?

Answer 537

FBC U&E – increased urea and creatinine, hyperkalaemic acidosis C3 and C4 – may be low Anti-streptolysin O titre – raised Throat/skin swabs Urinalysis – haematuria, raised protein on dipstick, RBCs

Question 538

How do you manage acute nephritis?

Answer 538

Fluid and electrolyte balance Treat hypertension – diuretics Correction of other imbalances – potassium, acidosis Penicillin – treatment of streptococcal infection if needed The nephritis usually setles by itself, may need steroids Monitor urine output and creatinine

Question 539

What is cryptorchidism?

Answer 539

Undescended testes The testes has been arrested along its normal pathway of descent

Question 540

What is a risk factor for undescended testes?

Answer 540

Prematurity

Question 541

What are the 3 different classifications of undescended testes?

Answer 541

Retractile Palpable Impalpable

Question 542

What is a retractile undescended testicle?

Answer 542

Can be manipulated into the bottom of the scrotum But as soon as you let go it retracts into the inguinal region – pulled up by the cremaster muscle Usually present later as hard to notice on neonatal check Eventually the testes should permanently reside in the scrotum But does require follow-up to check

Question 543

What is a palpable undescended testicle?

Answer 543

Can be palpated in the groin But cannot be manipulated into the scrotum Occasionally testes can be ectopic (outside the normal line of descent) so may be felt in the perineum or femoral triangle

Question 544

What is an impalpable undescended testicle?

Answer 544

No testis can be felt on detailed examination The testis may be intra-abdominal, in the inguinal canal or completely absent

Question 545

What investigations would you do for suspected undescended testis?

Answer 545

Genital examination – in a warm room, warm hands, relaxed child. Try and “milk” the testes into the scrotum Ultrasound scan Hormonal investigations Karyotype Laparoscopy – investigation of choice to look for an impalpable testicle (see whether it’s completely absent or just abdominal)

Question 546

What is the treatment for cryptorchidism?

Answer 546

Orchidopexy – surgical placement of the testis in the scrotum If testicles absent altogther – start on testosterone replacement therapy around the age of 10 (start of puberty) and consider testicular prosthesis for cosmetic purposes

Question 547

Why is it important to treat cryptorchidism?

Answer 547

Fertility – is at risk if the testes are not within the scrotum Malignancy – greater risk in undescended testes Cosmetic and psychological reasons

Question 548

What is the clinical presentation of testicular torsion?

Answer 548

Tender, red, painful testicle Abdominal pain Vomiting

Question 549

Which age groups are affected by testicular torsion?

Answer 549

Neonatal and puberty are the peak ages for incidence But can happen at any age So have a low threshold for investigation

Question 550

How do you investigate and treat testicular torsion?

Answer 550

Doppler ultrasound scan – demonstrates decreased blood flow (as torsion of the spermatic cord results in testicular ischaemia) Surgical intervention – emergency – needs operating to un-tort within 6 hours If the testicle is dead – orchidectomy

Question 551

When should malignancy be considered in paediatrics?

Answer 551

In any child whose condition does not resolve or respond to treatment in the normal way Do not be afraid to challenge the original diagnosis If in doubt – retake a full history

Question 552

What is the most common cause of lymphadenopathy in children?

Answer 552

Very common – affects up to 50% of children Most commonly due to a self-limiting benign cause (i.e. cough/cold)

Question 553

What are some other causes of lymphadenopathy in children?

Answer 553

HIV Autoimmune conditions Glycogen storage disorder Malignancy

Question 554

What are the indications for biopsy of an enlarged lymph node?

Answer 554

Enlarging node without clear infective cause Persistent Unusual site e.g. supraclavicular – typically indicated mediastinal mass If there’s associated signs and symptoms that are worrying (i.e. anaemia, bruising) Fever, weight loss, enlarged liver/spleen If abnormal CXR or respiratory symptoms

Question 555

Which is the most common childhood malignancy?

Answer 555

Acute lymphoblastic leukaemia (ALL) Followed by brain tumours

Question 556

Which cell type is affected by leukaemia?

Answer 556

Precursors to B and T cells So affects the blood and bone marrow

Question 557

What is the prognosis of ALL and what are some indicators of good prognosis?

Answer 557

About 80% cure rate Good prognostic indicators: Age 2-10 Female WCC < 50 No CNS disease

Question 558

What are some risk factors for ALL?

Answer 558

Down’s syndrome Immune compromisation – HIV, organ transplant and therefore on immunosuppressants

Question 559

What causes the symptoms of ALL?

Answer 559

Bone marrow infiltration Organ infiltration With leukaemic blast cells

Question 560

What are the presenting symptoms of ALL?

Answer 560

SYMPTOMS OF PANCYTOPENIA: Infections (due to neutropenia) Lethargy and pallor (due to anaemia) Abnormal bruising, petechiae, nose bleeds (due to pancytopenia) ALWAYS ask about the other symptoms if they present with any of these Malaise Anorexia Hepatosplenomegaly Lymphadenopathy (lumps and bumps) Bone pain (due to bone marrow infiltration)

Question 561

Which symptoms occur more commonly in ALL relapse?

Answer 561

CNS infiltration – headaches, vomiting, nerve palsies Testicular enlargement

Question 562

What is the typical speed of onset of ALL symptoms?

Answer 562

Insidious onset over around 4 weeks May have had a non-specific prodrome for several months

Question 563

What is the gold standard diagnosis for ALL?

Answer 563

Bone marrow aspirate

Question 564

What other investigations should be done for ALL?

Answer 564

BLOOD COUNT showing: Low Hb (anaemia) Thrombocytopenia Evidence of circulating blast cells WCC may be up or down Neutropenia LP CXR

Question 565

What are the stages of chemotherapy treatment for ALL?

Answer 565

Induction Consolidation and CNS treatment Intensification Maintenance (2 years for girls, 3 years for boys – as boys have a higher incidence of recurrence, particularly in the testes)

Question 566

Which chemotherapy medications are used in ALL?

Answer 566

Vincristine Plus a steroid such as dexamethasone

Question 567

What is another option for treatment of ALL other than chemotherapy?

Answer 567

Haemopoetic stem cell transplant This can be given in high risk patients in the first episode of disease Or for those who relapse

Question 568

What are some late effects of ALL & its treatment that could affect children into their adult life?

Answer 568

Psychological impact of childhood cancer – always mental health screen them Family and social impact Fertility – offer freeze eggs/sperm before treatment Growth impact CNS development Cardiac and renal toxicity Delayed puberty Risk of recurrence is a large worry

Question 569

Which characteristic cell type would you see on a film in Hodgkin’s lymphoma?

Answer 569

Reed-Sternberg cells

Question 570

How does non-Hodgkin’s lymphoma present in childhood?

Answer 570

T-cell malignancies – mediastinal mass plus bone marrow infiltration (anaemia, bruising, infections) B-cell malignancies – localised lymphadenopathy in head, neck or abdomen Adominal disease – pain, mass, intussusception/obstruction

Question 571

How does Hodgkin’s lymphoma present?

Answer 571

Painless lymphadenopathy – most commonly in the neck LARGER AND FIRMER lymph nodes than in benign lymphadenopathy Often has a long history Systemic ‘B’ symptoms: Sweating Pruritus Weight loss Fever

Question 572

How are the lymphomas investigated?

Answer 572

NHL – stage with CT/MRI, bone marrow aspirate, CSF sample Hodgkin’s – diagnostic lymph node biopsy, intra-adominal disease assessed radiologically

Question 573

How are the lymphomas treated and what is their prognosis in children?

Answer 573

NHL - multi-agent chemotherapy Hodgkin’s – chemo +/- radiotherapy About 80% cure rate

Question 574

What is the pathological/aetiological difference between brain tumours in adults and children?

Answer 574

In adults - brain tumours are normally secondary from another cancer elsewhere In children – brain tumours are almost always primary

Question 575

What types of primary brain tumour are seen in paediatrics?

Answer 575

Astrocytoma – 40% (this includes glioblastoma multiforme) Medulloblastoma - 20% Ependymoma – 8% Brain stem glioma – 6% Craniopharyngioma – 4%

Question 576

How do brain tumours present in children?

Answer 576

Broadly – signs of Raised ICP and focal neurological signs of wherever the tumour is located

Question 577

What are the symptoms of brain tumour in children?

Answer 577

Headache (early morning, worse when lying down) – raised ICP Vomiting (especially when waking in the mornings) Papilloedema Squint secondary to 6th nerve palsy Nystagmus Ataxia Seizures/epilepsy Personality/behavioural change Headaches + personality change 🡪 consider raised ICP

Question 578

Headaches are an extremely common symptom in children. Which features are an indication to scan?

Answer 578

If there’s eye signs – papilloedema, decreased acuity, visual loss If other neurological signs develop (nystagmus etc.) If recurrent and early morning If associated with vomiting If there’s short stature/decelerated growth If there’s symptoms of diabetes insipidus or other endocrine disorders If < 3 years If the child has NF1

Question 579

Which method of imagining would give the best view of a brain tumour? And which other investigation should you avoid in a child with signs of raised ICP?

Answer 579

MRI scans are the best way to look at tumours Do not perform LP if signs of raised ICP

Question 580

How are brain tumours in children treated?

Answer 580

Surgery is the best option if the tumour is operable Radiotherapy – stereotactic gamma knife is worth a try Chemotherpay

Question 581

Brain tumours have a poor prognosis, however some do survive. What are the long term complications of brain tumours and their treatment?

Answer 581

Outcome depends on where the tumour was and how well the surgery cleared it/how much healthy brain tissue was removed alongside the tumour Survivors may face – neurological disability, growth problems, endocrine problems, and neuropsychological problems

Question 582

What is a neuroblastoma?

Answer 582

Tumours of neural crest tissue In the ADRENAL MEDULLA AND SYMPATHETIC NERVOUS SYSTEM NOT BRAIN TUMOURS Can be benign (ganglioneuroma) or malignant (neuroblastoma)

Question 583

Which age group are most commonly affected by neuroblastomas?

Answer 583

Most common < 5 years

Question 584

How do neuroblastomas present?

Answer 584

Abdominal mass – if the tumour is in the adrenals (most common site) Mass anywhere along sympathetic chain 🡪 may lead to spinal cord compression Miserable child with big abdomen 🡪 think neuroblastoma

Question 585

What investigations would you do for a neuroblastoma?

Answer 585

MRI/CT Urinary catecholamines - raised Biopsy Bone marrow sampling MIBG – metaiodobenzynl guanidine

Question 586

How is neuroblastoma treated?

Answer 586

Surgery – for localised disease Chemo – advanced disease (symptoms of advanced disease = bone pain, pancytopenia, weight loss, malaise)

Question 587

What is the most common renal cancer in childhood?

Answer 587

Wilm’s tumour 80% present < 5 years Rare > 10 years Originates from embryonal renal tissue

Question 588

What is the main cause/risk factor of Wilm’s tumour?

Answer 588

FAMILY HISTORY Wilm’s tumour susceptibility gene

Question 589

How does Wilm’s tumour present?

Answer 589

Large abdominal mass Otherwise well child PANLESS haematuria Sometimes hypertension, poor appetite, poor weight gain 5% have bilateral disease at diagnosis

Question 590

How is Wilm’s tumour investigated?

Answer 590

USS/CT/MRI Staging to assess for mets – usually in the lungs

Question 591

How is Wilm’s tumour treated?

Answer 591

Chemotherapy for 6 months to shrink tumour(s) Nephrectomy – full if only one kidney, partial if both kidneys affected Radiotherapy 80% cure

Question 592

What is the most common type of soft-tissue tumour in children?

Answer 592

Rhabdomyosarcoma Usually in the head/neck

Question 593

What are the 2 types of bone tumour seen in paeds and who is more at risk, boys or girls?

Answer 593

Osteogenic sarcoma Ewing’s sarcoma Both are more common in males

Question 594

How do bone tumours present?

Answer 594

Persistent localised bone pain Mass Limbs most common site Well child at diagnosis

Question 595

How are bone tumours investigated?

Answer 595

X-Ray – mass, destruction, periosteal new bone formation CT scan to determine extent of diesease

Question 596

How are bone tumours treated?

Answer 596

Neoadjuvant chemotherapy Surgery – try and remove the tumour but preserve the limb, amputation avoided where possible Ewing’s – radiotherapy manages local disease

Question 597

What is retinoblastoma and what causes it?

Answer 597

Malignant tumour of the retinal cells of the eye Can affect one or both eyes All bilateral tumours = hereditary 15% of unilateral cases = heriditary Autosomal dominant inheritance (incomplete penetrance) Retinoblastoma susceptibility gene on chromosome 13

Question 598

What is the most common presentation of retinoblastoma?

Answer 598

Abnormal red reflex seen in flash photography WHITE PUPILLARY REFLEX replaces the normal red one Screened for in NIPE Can also present with decreased visual acuity and nystagmus

Question 599

How would you investigate retinoblastoma?

Answer 599

Full ocular examination – fundoscopy Biopsy Genetic testing Genetic counselling

Question 600

How is retinoblastoma treated?

Answer 600

Aim of treatment = get rid of cancer, preserve as much vision as possible May need to remove the eye (enucleation) in advanced cases Chemotherapy Local laser treatment Most are cured but visually impaired Large risk of secondary malignancy (especially sarcoma)

Question 601

Liver tumours are rare in paediatrics. But how would it present?

Answer 601

Abdominal distention/mass Sometimes jaundice Primary liver tumours in neonates = haemangioma

Question 602

How would you investigate suspected liver malignancy?

Answer 602

USS/CT/MRI Serum alfafetoprotein

Question 603

How do germ cell tumours present and how are the investigated?

Answer 603

Lump – sacrococcygeal region or gonads Investigate - serum AFP and serum BCG Treatment – chemo, good outcome

Question 604

What is Langerhan’s cell histiocytosis?

Answer 604

Abnormal prolieration of histiocytes (stationary phagocytic cells in connective tissue) Not truly malignant Can be aggressive and responds to chemotherapy

Question 605

How does Langerhan’s cell histiocytosis present?

Answer 605

Spectrum of disease from localised bone lesions = systemic /vague presentation Bone lesions – pain, swelling, fractures (often in skull) Diabetes insipidus – due to skull disease Rash Soft tissue involvement (gums, ears, spleen, LNs, bone marrow) Recurrent discharging ear

Question 606

How is LCH investigated?

Answer 606

XR – characteristic lytic lesions with well defined border (often in skull) Full skeletal survey to identify multiple lesions

Question 607

How is LCH treated?

Answer 607

Bone lesions – biopsy Diabetes insipidus – long-term treatment with desmopressin usually required Systemic - chemotherapy, variable prognosis

Question 608

What is the most common cause of anaemia in childhood?

Answer 608

Iron deficiency

Question 609

What is the role of HbF?

Answer 609

Has a higher affinity for oxygen than adult Hb so the foetus can survive the lower oxygen concentrations in the womb Switches gradually to HbA By 6 months, most of the HbF is HbA

Question 610

Why are premature infants susceptible to anaemia?

Answer 610

Not fully developed = insufficient EPO production Protein content of breastmilk not sufficiency for haemopoesis in premature infants Signs and symptoms - apnoea, poor weight gain, pallor, decreased activity, tachycardia

Question 611

What are the 3 mechanisms for anaemia?

Answer 611

Reduced/impaired red cell production (iron deficiency, red cell aplasia) Increased red cell destruction – haemolysis Blood loss – relatively uncommon in children

Question 612

How does anaemia present in paeds?

Answer 612

Young infants – slow feeding/may seem breathless Children – tire easily Pale conjunctiva, tongue or palmar creases Irritability Tachycardia Pica – eating non-food materials Iron deficiency – behavioural problems/reduced intellectual function Malabsorption picture Hepatomegaly, splenomegaly, jaundice – if haemolysis

Question 613

What investigations are needed for an anaemic child?

Answer 613

Full blood count Haematinics Reticulocyte count (high circulating reticulocytes indicated haemolysis) Bone marrow investigation

Question 614

If a baby presents at < 24 hours with jaundice, what test would you like to do?

Answer 614

Jaundice at < 24 hours is often due to haemolysis Do a Coomb’s test (ABO incompatibility/Rh incompatibility)

Question 615

How is iron deficiency anaemia treated?

Answer 615

Dietary advice (red meat, brocolli, kale) Oral iron supplement

Question 616

How is sickle cell anaemia treated?

Answer 616

Antibiotic prophylaxis – twice daily penicillin against pneumococcus Treatment of acute crises – analgesia, hydration, oxygen Exchange transfusion – acute chest, stroke, priapism Treatment of chronic problems – hydroxyurea, hydroxycarbamide (these increase the level of feotal haemoglobin which replaces the sickle haemoglobin) Really dangerous if they get Parvovirus B19 (slapped cheek) – causes aplastic crisis. Need good hydration and oxygen

Question 617

How is thalassaemia treated?

Answer 617

Thalassaemia = they are missing part of the haemoglobin molecule Treatment - regular blood transfusions, frequency depends on severity of the disease Iron chelation to prevent iron overload (which can lead to liver failure, cardiomyopathy, heart failure, pancreatic dysfunction) Bone marrow transplant as a last resort

Question 618

What is aplastic anaemia?

Answer 618

Bone marrow failure – the bone marrow is not producing any blood cells Characterised by reduction or absence in all 3 main lineages in the bone marrow – leading to peripheral pancytopenia (Platelets come from megakaryocytes)

Question 619

What are the causes of aplastic anaemia?

Answer 619

Idiopathic Viruses – hepatitis Drugs – chemotherapy, sulphonamides (antibiotics) Toxins - benzene, glue Fanconi anaemia – autosomal recessive, short stature, abnormal radii and thumbs, micropthalmia, skin lesions, renal malformations Schwachman-Diamond syndrome – autosomal recessive, bone marrow failure, pancreatic exocrine failure, skeletal abnormalities

Question 620

How does aplastic anaemia present and what are the main differential diagnoses?

Answer 620

Anaemia Infection Bruising and bleeding Symptoms of pancytopenia so DDX = blood cancers such as leukaemia and lymphoma

Question 621

How is aplastic anaemia investigated?

Answer 621

Full blood count Bone marrow studies

Question 622

How is aplastic anaemia treated?

Answer 622

Address underlying cause Supportive treatment (fluids, antibiotics) – wait for them to return to full health i.e. if it’s due to chemo etc. Bone marrow transplant if severe

Question 623

What are some causes of acquired bleeding disorders?

Answer 623

Vitamin K deficiency Liver disease – cannot produce clotting factors or store vit A, D, E and K effectively Thrombocytopenia – idiopathic thrombocytopenic purpura following viral infections in young children

Question 624

What are some inherited causes for bleeding disorder?

Answer 624

Haemophilia A (factor 8 deficiency) and B (factor 9 deficiency) – X linked recessive, more common in boys, usually presents with recurrent spontaneous bleeds into joints and muscles around 1 year of age Von-Willebrand’s disease – autosomal dominant, presents with mucosal bleeding (e.g. epistaxis, menorrhagia) or excessive bleeding after surgery

Question 625

Which other condition puts girls at risk of having X-Linked disorders such as haemophilia?

Answer 625

Turner’s syndrome 45, XO They don’t have the protection from the extra X chromosome

Question 626

What is the difference in typical presentations of haemophilia and VWD?

Answer 626

Haemophilia – tends to cause big bleeds into joints VWD – mucosal bleeding (epistaxis, gum bleeds, menorrhagia)

Question 627

How does thrombocytopenia present?

Answer 627

Petechiae/purpura Easy bruising

Question 628

What is the triad of symptoms for HSP?

Answer 628

Purpura Arthritis Abdominal pain

Question 629

What investigations need to be done in a patient with suspected bleeding disorder?

Answer 629

FBC and blood film Prothrombin time – measures factors 2, 5, 7, 10 Activated partial prothrombin time Thrombin time Quantitative fibrinogen assay D-Dimers Biochemical screen including renal and liver function

Question 630

Which are the vitamin K dependant clotting factors?

Answer 630

10 9 7 2 (1972)

Question 631

How do you manage acquired clotting disorder?

Answer 631

Vitamin K injection – given to all neonates, supplements given in children Diagnose and treat any liver disease Platelet infusion if thrombocytopenia

Question 632

How are haemophilia A and B treated?

Answer 632

Recombinant factor 8 for A Recombinant factor 9 for B

Question 633

How is VWD treated?

Answer 633

Mild – desmopressin Severe – plasma derived factor 8 concentrate

Question 634

What are the inherited causes of thrombosis in children?

Answer 634

Protein C deficiency Protein S deficiency Anti-thrombin deficiency Factor V Leiden deficiency

Question 635

What are some acquired causes of thrombosis in children?

Answer 635

Catheter related – i.e. during an investigation DIC Hypernatraemia Polycythaemia (due to congenial heart disease or placental insufficiency in utero) Malignancy SLE

Question 636

How does thrombosis in children manifest?

Answer 636

Inherited conditions – present with venous thrombosis in 2nd or 3rd decade Thrombosis of cerebral vessels = stroke ”purpura fulminans” – widespread haemorrhage and purpura into the skin in the neonatal period

Question 637

What are the indications for screening for inherited thrombophilia in children?

Answer 637

Any child with venous thrombosis Ischaemic skin lesions Neonatal purpura fulminans Positive family history of purpura fulminans Known family history of clotting disorder

Question 638

How are clotting disorders treated?

Answer 638

Warfarin NOACs

Question 639

What are the 3 core behaviours associated with ADHD?

Answer 639

Inattention Impulsivity Hyperactivity NB – these symptoms occur in every child occasionally, but when they are persistent and impact on daily function, more investigations are needed

Question 640

What are some risk factors for ADHD?

Answer 640

Boys 4x more likely than girls Prematurity Low socio-economic status Other psychiatric disorders – Asperger’s, Tic, ODD CNS insults – perinatal infections, meningitis, fetal alcohol syndrome

Question 641

What are the symptoms of inattention in ADHD?

Answer 641

Easily distracted Does not appear to listen when spoken to Forgetful in daily activities Loses important items Finds it difficult to follow instructions/complete tasks Makes careless mistakes

Question 642

What are the symptoms of hyperactivity in ADHD?

Answer 642

”can’t sit still” Runs or climbs excessively Appears to be constantly “on the go” and “driven by a motor” Talks excessively Cannot perform leisurely activities quietly

Question 643

What are the symptoms of impulsivity in ADHD?

Answer 643

Blurts answers before questions are completed Has difficult awaiting turn Interrupts or intrudes on others Teenagers get into big trouble for impulsive behaviour 🡪 more likely to have car accidents/get pregnant

Question 644

How is ADHD assessed?

Answer 644

Clinical diagnosis - take a history Assessment in school and at home (need to exhibit the behaviour in more than 1 domain) Information from teachers, school reports, family members, previous doctors reports and notes

Question 645

How is ADHD treated?

Answer 645

Education ADHD parenting program Support from school Medications – methylphenidate (a CNS stimulant)

Question 646

What are the cardinal symptoms of Autism spectrum disorder?

Answer 646

Impaired social interaction Speech and language disorder Imposition of routines, with ritualistic and repetitive behaviour

Question 647

How might autism spectrum disorder present?

Answer 647

Lack of desire to communicate at all Repeats speech – echolalia Won’t hold eye contact Poor body language Unable to understand sarcasm Doesn’t play imaginatively Has obsessions and rituals Regression in development – i.e. they started to talk and then stopped Does not like change

Question 648

How is autism spectrum disorder managed?

Answer 648

MDT approach – liaise with school, nurses, GP, educational classes for parents Using things like picture-based timetables they can tick off when they do something to get them through the day Visual clues avoid anxiety Manage associated co-morbidities

Question 649

What are the diagnostic criteria for anorexia nervosa?

Answer 649

Body weight < 15% expected for age and height Self-induced weight loss – avoiding food, vomiting, laxatives, excessive exercise Body image distortion HPG axis disorder – delayed puberty, loss of sexual interest and potency

Question 650

What are some risk factors for anorexia nervosa?

Answer 650

Female gender High achiever Friendship issues Stressful life events to trigger the process Middle class Complex family dynamic Bereavement Domestic/ sexual abuse Being overweight as a child

Question 651

What are some physical effects on the body of anorexia nervosa?

Answer 651

Cognitive effects Muscle wasting – eventually affects the heart leading to CCF, can’t squat down and stand up without touching anything Osteoporosis Extra hair growing Constipation Can’t maintain body temperature Teeth – dental erosions due to vomiting

Question 652

What screening tool would you use to assess risk in someone you think may have anorexia?

Answer 652

SCOFF questionnaire: 1. S – do you ever make yourself sick? 2. C – do you feel like you lose control when you eat? 3. O – have you lost more than One stone in a 3 month period? 4. F – do you believe yourself to be fat? 5. F – does food dominate your life?

Question 653

How is anorexia managed?

Answer 653

MARSIPAN tool Externalising the anorexia is a first line step of treatment – name the anorexia, dissociate it from the young person and try and address it as a separate entity Aim for slow and steady weight gain in the community Family approach and individual therapy MDT approach – GP, CAHMS counselling, dietician Medications – SSRIs, antipsychotics (if they have body dismorphic disorder) and vitamin replacements as required

Question 654

What is the importance of slow and steady weight gain and food intake in anorexia?

Answer 654

Risk of RE-FEEDING SYNDROME When the body is starved for a long time giving glucose can be dangerous The body starts taking up glucose and excreting potassium and sodium Causes re-feeding hepatitis

Question 655

What is the prognosis of anorexia nervosa?

Answer 655

1/3 recover 1/3 relapse and remit 1/3 chronic lifelong illness

Question 656

What is an important differential for scalded skin syndrome?

Answer 656

Stephen Johnson syndrome Disorder usually caused by infections or drugs Causes peeling of the skin, hands and mucosal changes High mortality

Question 657

What causes scalded skin syndrome and how do you treat it?

Answer 657

Caused by staph aureus Treatment – fluid rehydration, IV flucloxacillin

Question 658

What clinical features would differentiate meningococcal septicaemia from HSP?

Answer 658

HSP rash looks very much like meningococcal rash (non-blanching, purpuric) But the child will be well and afebrile compared to a septic child Meningococcal rash will be all over the body HSP rash generally sticks to the lower limbs and buttocks HSP triad – abdo pain, purpura, arthritis If in doubt – treat as meningococcal sepsis

Question 659

What type of skin disorder might you see in a child with insulin resistance?

Answer 659

Acanthosis nigricans This child will also be obese

Question 660

How does the distribution of eczema differ in babies and children?

Answer 660

In babies – tends to be on their face and trunk Past age of 1 – can be generalised but tends to occur in the creases

Question 661

What type of rash is it if it’s triggered when the child goes out in the sun, gets hot or cold?

Answer 661

Urticaria

Question 662

What is the main purpose for screening for congenital hypothyroidism in the newborn blood spot?

Answer 662

It causes severe neurological dysfunction which leads to severe learning difficulties later In life Relatively common – affects 1 in 4000 births

Question 663

What is the main cause congenital hypothyroidism a) worldwide b) in the UK and c) in consanguinous families?

Answer 663

Worldwide – iodine deficiency UK – mal-descent ent of thyroid/absent thyroid Consanguinous families – dyshormonogenesis (inborn error of thyroid hormone synthesis)

Question 664

How does congenital hypothyroidism present?

Answer 664

PICKED UP ON GUTHRIE TEST – antenatal screening But if not picked up Failure to thrive Jaundice Feeding problems Hoarse cry Goitre Delayed development

Question 665

What is the treatment for congenital hypothyroidism?

Answer 665

Lifelong oral replacement of thyroxine (if due to maldescent, athyrosis or dyshormonogenesis) Titrate dose to maintain normal growth

Question 666

What is the most important biochemical test to indicate long-term well controlled thyroid disease?

Answer 666

Normal TSH levels

Question 667

What is the most common cause of hypothyroidism in children?

Answer 667

Autoimmune thyroiditis (Hashimoto’s?) Symptoms the same as in adult hypothyroidism

Question 668

What is the most common cause for hyperthyroidism in children? What are the risk factors?

Answer 668

Grave’s diesease More common in girls More common in people with another autoimmune disease (Type 1 diabetes, coeliac disease) Symptoms same as in adult thyroid disease

Question 669

How is hyperthyroidism treated?

Answer 669

Carbimazole Propylthiouracil Either by a dose titration or block and replace with thyroxine

Question 670

What are the actions of insulin?

Answer 670

Acts to lower the blood glucose level Does this by stimulating glucose uptake from the blood into – muscle, kidney and fat cells Targets the liver to convert glucose into glycogen

Question 671

How does T1DM mellitus present?

Answer 671

Either picked up by chance on a random plasma glucose Or – polydipsia, polyuria, weight loss, fatigue

Question 672

What are the symptoms of DKA?

Answer 672

Smell of acetone on breath (pear drops) Vomiting Dehydration Abdominal pain Hyperventilation due to acidosis (Kussmaul breathing) Hypovolemic shock Drowsiness Coma

Question 673

What metabolic abnormality in the blood is seen in DKA?

Answer 673

Hypokalaemic Hypochloraemic Metabolic acidosis

Question 674

How do you treat DKA?

Answer 674

Aggressive fluid resuscitation before anything else Insulin Potassium Glucose Hourly obs watch closely and rehydrate slowly

Question 675

What condition do you risk if you rehydrate a child in DKA too quickly?

Answer 675

Cerebral oedema

Question 676

What are the symptoms of hypoglycaemia?

Answer 676

Irritable Nauseous Shaky Sweaty Pale Dizzy Confused Drowsy Odd behaviour Hypo seizure – convulsions can occur

Question 677

What are some hypo phenomena?

Answer 677

Hypo unawareness Rebound hypoglycaemia Rebound hyperglycaemia Dawn phenomena – morning rise in blood sugar

Question 678

What blood tests are needed for a diagnosis of diabetes?

Answer 678

Random plasma glucose ≥ 11.1 mmol/l Fasting plasma glucose ≥ 7.0 mmol/l HbA1c > 6.5% (or > 48 mmol/l)

Question 679

How should a mild/moderate hypo be managed?

Answer 679

Check BM to confirm Glucose tablets/glucogel / 3 jelly babies Follow up with longer acting carbohydrate e.g. sandwhich Check BMs again after 15 mins

Question 680

How do you manage a severe hypo?

Answer 680

Do not attempt to give anything by mouth Glucagon – SC or IM injection (0.5mg if < 5 years, 1mg if > 5 years) Wait 10 mins When conscious give longer acting carb

Question 681

What area of the body is the main source of limp in children?

Answer 681

Hip Then leg Then knee Then thigh Then foot (least likely to be limping due to a foot problem)

Question 682

What are some common causes of limp in children?

Answer 682

Transient synovitis (post-infectious) Slipped upper femoral epiphysis Reactive arthritis DDH Septic arthritis Duchenne’s Osteomyelitis Perthe’s disease – avascular necrosis of the femoral head Cancer – Ewing’s, osteogenic sarcoma

Question 683

What is the typical presentation of transient synovitis?

Answer 683

Limping unhappy child Post viral- after cough, cold Limp < ROM NB – HIP PROBLEMS CAN OFTEN PRESENT AS KNEE PAIN

Question 684

How would you investigate a limping unhappy child?

Answer 684

FULL HISTORY – including recent illnesses such as coughs and colds EXAMINE FROM HEAD TO TOE Urgent inflammatory markers Ultrasound the joint to look for thickening of capsule or effusion

Question 685

What is the presentation of a slipped upper femoral epiphysis?

Answer 685

Traumatic acute limping child History important Age 7-16 years Not weightbaring Externally rotated hip KNEE PAIN Consider congenital insensitivity to pain – these patients can dislocate joints without realising

Question 686

What are the differential diagnosis for a limping unwell (pyrexic) child?

Answer 686

Septic arthritis and oesteomyelitis They will be systemically unwell and pyrexic << ROM (limb tends to be completely immobile)

Question 687

What investigations do you do for a septic limping child?

Answer 687

History Examination – red, hot, swollen extremely tender joint FBC, WCC, ESR, CRP X ray the affected joint USS joint capsule Blood cultures Joint aspiration for cultures

Question 688

Which infecting organisms cause septic arthritis in babies, under 4s and >4s/adolescents?

Answer 688

Infants – group B strep, staph aureus, coliforms Children up to 4 – staph aureus, pneumococcus, haemophilus influenza Children >4/adolescents – staph aureus, gonococcus

Question 689

What would the differential diagnoses be for a CHRONIC limping child?

Answer 689

Perthe’s disease SUFE DDH (developmental dyplasia of the hip) Spinal problems Juvenile idiopathic arthritis Bone tumours – there is often a PALPABLE MASS Foot deformities

Question 690

What is the typical presentation of Perthe’s disease?

Answer 690

4-8 years old Unilateral hip pain Limp Family history < ROM, < internal and external rotation There is often apparent shortening of one of the legs

Question 691

How does a chronic slipped upper femoral epiphysis present?

Answer 691

9-16 years old Chronic (> 3 weeks) Pain – knee, thigh, hip STEROTYPE – MALE, LOWER SOCIOECONOMIC STATUS, PARENTS SMOKE Slightly overweight child Comes on gradually More common in children with endocrine issues Surgical emergency

Question 692

How does developmental dysplasia of the hip (DDH) present?

Answer 692

Should be picked up on NIPE but can be a late presenter Leg length discrepency Reduced abduction Otherwise well Typically “waddle” when they walk

Question 693

What sign can be elicited to demonstrate DDH?

Answer 693

Galleaze sign Child is laying down on the bed with their feet flat against the bed Positive test = knees are different heights Limited abduction on dislocated hip

Question 694

How may a diagnosis of growing pains be reached?

Answer 694

Diagnosis of exclusion Growing pains are common Females > males Usually bilaterla DO NOT CAUSE LIMP and won’t have any systemic features Last thing you reach for if you cannot explain the pain

Question 695

What are some essential questions to ask in a limp history?

Answer 695

Pain? Unwell in general? Onset – sudden or gradual? What type of limp? Can the problem be localised? Has it improved, got worse or stayed the same?

Question 696

What are the 3 rockers of gait?

Answer 696

1 = heel off 2 = flat 3 = toe off

Question 697

What causes a positive Trendelenberg test?

Answer 697

Pathology = abductor dysfunction Can be caused by - hip dysplasia, fracture that hasn’t healed, neurologcal injury, low grade long-term bone infection

Question 698

Which test would you perform on a child in whom you suspected muscular dystrophy?

Answer 698

Gower test

Question 699

How do you treat septic arthritis or osteomyelitis?

Answer 699

Aspiration/drainage of the pus in the joint Antibiotics – often flucloxacillin because the infection is often caused by staph aureus

Question 700

What is the definition of juvenile idiopathic arthritis?

Answer 700

Onset before 16th birthday No identified underlying cause Persistent joint swelling/inflammation Lasting at least 6 weeks (i.e. it’s not reactive arthritis)

Question 701

What causes JIA?

Answer 701

Unknown

Question 702

What are the X ray features seen in JIA?

Answer 702

Due to the inflammatory nature of JIA, this will be the same as the joint features seen in RA Loss of joint space Joint deformity Soft tissue swelling Periarticular osteopenia

Question 703

How does JIA present?

Answer 703

Persistent joint swelling Limping/functional disability Pain Joint stiffness (particularly in the morning) Decreased ROM Joint deformity Warmth Colour change

Question 704

What are the subtypes of JIA?

Answer 704

Oligo articular – affects < 4 joints, big joints mainly Polyarticular – affects > 4 joints, small joints mainly Psoriatic – associated with nail pitting, dactylitis, family history Entethesis related Systemic arthritis – generalised inflammatory signs all over the body eg. Fever, rash, lymphadenopathy, hepatosplenomegaly

Question 705

What is the most important systems examination to do in a child with suspected JIA?

Answer 705

GAIT – screening test for all sorts of joint problems

Question 706

How is JIA treated?

Answer 706

Oligo - inject the affected joints with steroid Poly – system therapy - methotrexate is the safest and best option, NOT steroids in kids After 3 months if no response – start biologic (e.g. infliximab, adalamumab)

Question 707

What is the prognosis of JIA?

Answer 707

50% “grow out of it” and will no longer need treatment 50% will have chronic lifelong disease

Question 708

How is osteoporosis defined in children?

Answer 708

1 or more vertebral crush fractures 2 or more long bone fractures by the age of 10 3 or more by 19 Bone density less than 2.5 SDs below the mean

Question 709

What are the causes of osteoporosis in children?

Answer 709

Inherited/congenital: Osteogenesis imperfecta Haematological problems Acquired: Drug induced – particularly steroids (even ICS for asthma) Endocrinopathies – hypoparathyroidism (low calcium) Malabsorption Immobilisation e.g. disabilities Inflammation and inflammatory disorders

Question 710

Which type of osteogenesis imperfecta is lethal and what is the cause of death?

Answer 710

Type 2 is fatal Child dies very early because the chest is too small to allow breathing They have a lot of rib fractures (sometimes caused by the birth process) and their lungs don’t function at all

Question 711

What inheritance pattern in seen in osteogenesis imperfecta and what protein defect is seen?

Answer 711

Autosomal dominant Defects in type 1 collagen genes – the type of collagen in bones

Question 712

How does osteogenesis imperfecta present?

Answer 712

Bone fragility, fractures and deformity Bone pain Impaired mobility Poor growth – much smaller than children of the same age Deafness Poor muscle mass Hernia Valvular prolapse, aortic dissection Lovely happy smiley children compared to what you’d expect

Question 713

What eye sign do you see in children with OI?

Answer 713

Blue tinted sclera

Question 714

What are some X-Ray features you’d see in OI?

Answer 714

Wormian bones (wiggly black lines in the skull) – feels like bubble wrap under your fingers if you feel their skull Bent bones - e.g. bent tibia Bowing of the femur Complete chest collapse in type 2 OI – fatal

Question 715

Which members of the MDT are involved in the care of an OI patient?

Answer 715

Child and their family Metabolic bone doctors Pain team Physiotherapy Occupational therapy Specialist nurse Dietician School and teachers

Question 716

Which medications can be used in OI?

Answer 716

Bisphosphonates – pamidronate Prefer to give IV These help increase lumbar spine and total body bone mass

Question 717

What is Rickett’s and what causes it?

Answer 717

”Bent bones” e.g. bow legs due to under mineralisation of the bones Occurs due to vitamin D deficiency

Question 718

What is the paediatric recommended daily vitamin D intake?

Answer 718

400mg

Question 719

What are some risk factors for vitamin D deficiency?

Answer 719

Insufficient maternal vitamin D during pregnancy Lack of child’s exposure to sunlight Dark skin Lack of vitamin D in diet – prolonged un-supplemented breastfeeding

Question 720

What is the role of vitamin D?

Answer 720

Increases calcium absorption from the gut Increases calcium release from the bone Decreases calcium excretion by the kidneys Role in immune function/tolerance

Question 721

How dose vitamin D deficiency present?

Answer 721

Bowed leg deformity Hypocalcaemia convulsions Gross motor delay Incidental X-Ray finding Swollen ankle Carpopedal spasm

Question 722

How is Rickett’s investigated?

Answer 722

History Examination Biochemistry – serum calcium levels low, raised PTH levels XR – bowed legs, splayed metaphyses, frayed metaphyses

Question 723

How do you treat vitamin D deficiency?

Answer 723

Vitamin D supplement NOT the active metabolite – give them the inactive form because as long as they don’t have kidney or liver disease they will be able to convert it themselves

Question 724

What is the definition of seizures?

Answer 724

A neurological event causing a sudden disturbance of neurological function due to excessive discharge of neurones

Question 725

What are some causes of seizures in children?

Answer 725

Epilepsy Febrile convulsions Metabolic – hypo seizures, hypocalcaemia Head trauma Infection - meningitis, encephalitis, brain abscess Poisons/toxins – amphetamines/stimulants Iatrogenic – post brain surgery

Question 726

What age do children get febrile convulsions?

Answer 726

6 months – 6 years They usually have a genetic predisposition

Question 727

What are some causes of funny turns in children?

Answer 727

Breath holding attacks – cries, holds breath, goes blue, recovers quickly Reflex anoxic seizures – triggered by pain, cold food, fright, fever Syncope Migraine Benign paroxysmal vertigo - associated with nsytagmus, unsteadiness, viral labrynthitis Arrythmias Non-epileptic attack disorders Fabricated by a parent

Question 728

What is the difference between generalised and focal seizures?

Answer 728

Generalised – discharge arises from both hemispheres (absence, myoclonic, tonic, tonic-clonic, atonic) Focal – seizures arise from one part of the brain (so will only affect for example their right hand)

Question 729

What are the symptoms of a temporal lobe seizure?

Answer 729

Strange warning feelings/aura - smell, taste, visual, ‘rising sensation’ Automatisms – lip smacking, plucking clothing, pacing De ja vu and jamais vu Impaired consciousness – longer duration than a typical absence seizure

Question 730

How are seizures investigated?

Answer 730

WITNESS HISTORY is important – it is often a clinical diagnosis History from patient esp. family history and birth/development EEG Blood tests Metabolic investigations

Question 731

How is epilepsy managed?

Answer 731

Explanation of diagnosis MDT approach – family, school, doctors, specialist nurses, OT Anti-epileptic medications – valproate, lamotrigine, carbamazepine

Question 732

Which anti-epileptic drug should be avoided in absence and myoclonic seizures?

Answer 732

Carbamazepine

Question 733

Define cerebral palsy

Answer 733

A disorder of movement and posture due to a non-progressive lesion of motor pathways in the developing brain The symptoms develop over time as the child starts to develop – the specific deficits due to the non-progressive lesion becomes apparent

Question 734

What additional problems will children with CP often have on top of their movement and posture trouble?

Answer 734

Epilepsy Squints Visual impairment Speech and language disorders due to hearing problems Behaviour problems Feeding problems Joint contractures Hip subluxation Scoliosis

Question 735

What are the causes of cerebral palsy?

Answer 735

Antenatal (80%) – genetic syndromes, congenital malformations, congenital infections Hypoxic-ischaemic injury at birth (10%) Postnatal (10%) – intraventricular haemorrhage in premies, meningitis, encephalitis, trauma, NAI, hydrocephalus, kernicterus du to hyperbilirubinaemia

Question 736

What are the early features of CP?

Answer 736

Abnormal limb tone (head and trunk hypo, limbs hyper) Abnormal limb and trunk posture Delayed motor milestones Feeding difficulties – oromotor incoordination, slow feeding, gagging, vomiting Abnormal gait Hand preference before 12 months of age Persistent primitive reflexes beyond 6 months of age

Question 737

What are the 3 main types of CP?

Answer 737

Spastic (70%) Ataxic hypotonic (10%) Dyskinetic (10%) 10% will have a mixed picture of this

Question 738

Which motor tract is involved in spastic CP and what are the features?

Answer 738

UMN pathways affected – pyramidal or corticospinal Features – increased limb tone (spasticity), brisk deep tendon reflexes, extensor plantar response (positive Babinski sign), increased tone may suddenly yeild under pressure (clasp knife)

Question 739

What are the 3 main types of spastic CP?

Answer 739

Hemiplegic Quadriplegic Diplegic

Question 740

What are the features of hemiplegic CP?

Answer 740

They will have one “bad side” Unilateral involvement of arm and leg Arm usually worse Face spared Tip-toe walking Fisting and flexion of the affected arm

Question 741

What are the features of quadriplegic CP?

Answer 741

All 4 limbs affected Arms usually worse Trunk involved – extensor posturing, poor head control, low central tone Seizures Microcephaly Learning difficulites

Question 742

What are the features of diplegic CP?

Answer 742

All 4 limbs affected But LEGS WORSE – so arm function appears relatively normal Walking is abnormal

Question 743

What are the features of ataxic CP and which part of the brain is affected?

Answer 743

Symmetrical Early trunk and limb hypotonia Poor balance Delayed motor development Signs – ataxic gait, intention tremor Cerebellar signs – so shows cerebellum is affected

Question 744

What are the features of dyskinetic CP and which part of the brain is involved?

Answer 744

Fluctuating tone Involuntary movements Chorea, dystonia Intellect unimparied Basal ganglia are affected (extra-pyramidal)

Question 745

How should CP be investigated?

Answer 745

MRI brain – helps identify cause of CP CLINICAL DIAGNOSIS – assessment of pattern of tone in the limbs and trunk, posture, hand function, gait, reflexes, developmental assessment

Question 746

Which members of the MDT are involved in the care of a child with CP?

Answer 746

Doctors Physiotherapists – to help with the tone and posture problems SALT – to help with swallowing problems OT – if any adjustments at home needed Child and parents School – especially the special educational needs team

Question 747

What treatment can be given to help with symptoms of hypertonia/spasticity?

Answer 747

Baclofen – oral or intra-thecal Oral diazepam Botox injection Orthopaedic surgery

Question 748

Why is it important to measure head circumference in children?

Answer 748

It’s an accurate representation of brain size and development Microcephaly – can indicate the brain has not formed properly, particularly if it’s sloped at the front, and could mean they will have learning difficulties Macrocephaly – can indicate a child has hydrocephalus or SOL BEWARE – small babies will have small heads!! Compare to their centile for weight and length. If they are on 2nd centile for everything they are just small. If they are on 6th for weight and length and 2nd for head, their head is too small

Question 749

Which types of fluids can be used for maintenance in children?

Answer 749

0.45% sodium chloride + 5% dextrose 0.9% sodium chloride + 5% dextrose

Question 750

What is the RATE for maintenance fluids in children?

Answer 750

100, 50, 20 100 mls/kg/day for the first 10kg 50 mls/kg/day for the next 10kg (so up to 20kg) 20 mls/kg/day for every kg after

Question 751

So how much fluid must be given to a 23 kg child?

Answer 751

(100 x 10) + (50 x 10) + (20 x 3) = 1560 ml/24 hours (1 day) So hourly rate = 1560/24 = 65ml/hour

Question 752

What fluid maintenance is needed for babies on the first day they are born?

Answer 752

10% dextrose only Do not need saline on day 1

Question 753

What are the 2 situations in which you’d give a fluid bolus in paeds?

Answer 753

Hypoglycaemia Hypovolaemia (shock)

Question 754

What fluid bolus is given for hypoglycaemia?

Answer 754

10% dextrose 2mls/kg stat

Question 755

So what fluids would be given to a 15kg child with hypoglycaemia?

Answer 755

15 x 2 = 30 30mls bolus of 10% dextrose

Question 756

What fluid type and dose is given for hypovolaemia?

Answer 756

NORMAL SALINE 0.9% (even in newborn babies) 20mls/kg stat

Question 757

What fluid is given for dehydration?

Answer 757

Correction of dehydration = % dehydration x 10 x weight in kg

Question 758

What are some risk factors for child abuse?

Answer 758

Parental mental health problem Low socioeconomic status/deprivation Parental learning difficulty Alcohol and substance misuse “Difficult child” Disabled child Preterm infants Born to substance misusers

Question 759

What are some features of a history in a child that would make you feel concerned about abuse/NAI?

Answer 759

History that does not fit with the visible injuries: Too many injuries Wrong site Unusual shape or pattern Wrong type of incident Delay in presenting to hospital (old injuries) No history A history that changes

Question 760

What are “normal” places for children to bruise?

Answer 760

Shins – external bony bits Knees Elbows Toddlers – bumps on heads from walking into things

Question 761

Where are some places bruises do not “normally” occur?

Answer 761

Abdomen Genitalia Insides of arms and legs (bits that are tucked away) Behind the neck/any other soft bits Young babies that cannot roll over or move yet should not have any bruises at all – massive red flag. RIB FRACTURES IN BABIES also very specific for NAI

Question 762

What kind of brain event occurs in “shaken baby” syndrome?

Answer 762

Subdural haematoma

Question 763

What is the definition of neglect?

Answer 763

A standard of care that does not meet the needs of a child Types – food and drink, warmth, education, emotional support

Question 764

How do you investigate potential abuse/neglect?

Answer 764

Medical assessment Lab tests – FBC and platelets if they are prone to clotting Swabs – skin sores (could be impetigo etc.) Bone profile if fractures (calcium, vit D, PTH) Skeletal survey Developmental assessment Social services assessment

Question 765

How may a UTI present in a baby and what is the most likely causative organism?

Answer 765

Miserable Pyrexia Temperture Vomiting E.Coli Treatment – IV cefuroxime and USS urinary tract system

Question 766

By which mechanism can E. Coli become resistant to penicillin?

Answer 766

By producing beta lactamase Breaks down the beta lactam part of the antibiotic making it uneffective

Question 767

Meningitis is a notifiable disease. Who needs notifying?

Answer 767

Public Health England

Question 768

What is a complication of pneumonia which may be a reason why they do not respond to antibiotic treatment?

Answer 768

Empyema Will never resolve by antibiotics Needs surgical drainage

Question 769

What is the danger of an inguinal hernia and how do you differentiate it from a hydrocele?

Answer 769

Potential to cause bowel obstruction or perforation Hernia – cannot get above it in examination Hydrocele – you can get above it

Question 770

What are features that differentiate thyroglossal cysts, branchial cysts and demoid cysts on the head/neck?

Answer 770

Thyroglossal – midline, smooth, moves when they stick their tongue out Branchial – NOT in the midline, tend to appear along the border of the sternocleidomastoid Dermoids – lateral aspect of the eye, produce sebaceous material. Beware because can communicate intracranially and cause meningitis

Question 771

What do you worry about in a child with bilious vomiting?

Answer 771

Bowel obstruction Either due to intussusception, malrotation, volvulus etc

Question 772

If a baby is vomiting and “bringing up their knees” what is your main differential?

Answer 772

Intussusception

Question 773

If you can see bowel up in the lungs on an X- Ray in a baby, what’s the diagnosis?

Answer 773

Congenital diaphragmatic hernia