Paediatrics

Question 1

Describe risk factors for neonatal sepsis risk factors and its management

Answer 1

Premature neonates have fewer IgG transferred so cell mediated immunity less active, prolomged rupture of membranes, preterm labour, fetal distress
Group B Strep in mother raises risk
Maternal pyrexia eg secondary to chorioamnitis
Management: ABC, supportive (ventilation, inotropes)
Do septic screen - LP, urine, cultures, CRP, FBC, CXR
Broad spec abx before culture results - benzylpenicillin + genticmicin
Check lactate+
Mothers w/ PMH of GBS - give prophylactic IV abx (benzylpen) or if in preterm labour

Question 2

Describe the pathology of meningitis

Answer 2

Inflammation of meninges following bacteraemia (mainly group B meningococcal group)
Neonates - GBS, E coli, Listeria monocytogenes
1 month - 6 yrs - Neisseria meningitides, S. pneumonia
Haemophilus influenzae
6+ - NM & SP

Question 3

Presentation of meningitis?

Answer 3

Fever, headache, photophobia, lethargy, poor feeding, positive kernig’s sign, brudzinski sign (flexion of neck when child supine –> flexion of knees and hip), low GCS. septic: non blanching purpuric petichae

Question 4

Ix for meningitis?

Answer 4

FBC, blood cultures, rapid antigen screen - EDTA blood sample PCR, LP (CI meningococcal septicaemia, focal neurological signs, raised ICP - papilloedema, significant bulging of fontanelle, DIC), CT

Question 5

LP signs for bacterial vs viral meningitis?

Answer 5

Bacterial: cloudy, Polymorphs, high protein, low glucose
Viral: clear/cloudy, lymphocytes, normal glucose and protein

Question 6

Complications of meningitis?

Answer 6

Acute: inflammation –> abscess, raised ICP, cerebral oedema. Arachnoid vili blocked by fibrin deposits –> blocks CSF –> hydrocephalus, sepsis
Chronic; epilepsy, developmental delay, hearing problems

Question 7

Management of meningitis?

Answer 7

ABC
In GP: IM benzylpenicillin
Protect airway, high flowO2, IV fluids 0.9% NaCl saline - bolus if in shock
<3 months - IV cefotaxime (ceftriaxone/benpen also sensitive) + amoxacillin to cover Listeria
> 3months - IV cefotaxime
Dexamethsone to reduce complications if >1 month
Notify public Health England

Question 8

Prophylaxis for people sharing room/kissing/spending more than 8 hours with etc

Answer 8

ciprofloxacin

Question 9

3 year old child miserable, poor feeding, fever, vomiting, increased urinary frequency, dysuria, abdo pain - what is cause?

Answer 9

UTI - usually E. coli

More common in boys until 3 months (due to congenital abnormalitie) then more common in girls

Question 10

Rx of UTI?

Answer 10

Urine sample if if any S/S of UTI or unexplained fever >38C
Sample and culture- clean catch sample (nappies/or urine collection pads), MSU (older)
Dipstick - Nitrates, leucocyte esterase
Culture - >10^5/ml - MC&S
Upper UTI: Admit if >3months to hospital - IV cefuroxime for 7 days - PO switch to trimethoprim
If not admitted - PO cephalosporin/coamoxiclav
Lower UTI: PO trimethoprim/nitrofurantoin for 3/7
USS scan - abnormal structure eg polycyctic kidneys, pelvic kidney, duplex ureters - predispose to UTI

Question 11

Risk of recurrent UTI in childhood?

Answer 11

Renal failure in young adulthood

Question 12

Child treated for UTI now has pyrexia, seizures. Why? Management?

Answer 12

Pathogen is extended spectrum beta-lactamase producer and so resistant to all penicillins.
MC&;S
Change to meropenem/gentamicin/ciprofloxacin

Question 13

6 year old child presents with bone/joint pain, lethargy and fever. Dx?

Answer 13

Osteomyelitis

Question 14

Investigation for ?osteomyelitis?

Answer 14

Blood culture and X-ray

Question 15

What organism might a blood culture show in osteomyelitis?

Answer 15

Gram positive cocci - S. aureus

Question 16

Rx for osteomyelitis?

Answer 16

IV cefuroxime 1 week

PO cefuroxime 5 weeks

Question 17

Why are newborns more likely to be jaundiced?

Answer 17

Release of high conc of Hb, shorted red cell lifespan. Hepatic bilirubin metabolism less efficient in 1st few days of life.
Jaundice in neonate from 2-14 days - common & physiological - common in breastfed babies

Question 18

Newborn presents jaundiced. What is the significane of this?

Answer 18

Risk of kernicterus - bilirubin crossing BBB and unconjugated bilirubin binds to basal ganglia and brainstem causing encephalopathy

Question 19

Why might a neonate present with jaundice in the first 24 hours of age?

Answer 19

Always pathological
Haemolysis: some blood group O women have IgG anti-A-haemolysin which crosses placenta and haemolyses red cells in group A foetus
Rhesus haemolytic disease
Hereditary spherocytosis
G6PD

Question 20

Infant presents with jaundice 1 week old. What might be the cause?

Answer 20

physiological, breast milk jaundice, dehydration, infection

If signs of jaundice after 14 days - do prolonged jaundice screen:
Conjugated & unconjugated bilirubin (if raised conjugated bilirubin - could indicate biliary atresia - requires urgent surgical intervention)
Anti-globulin test (Coombs’ test), TFTs, FBC & blood film, urinie for MC&S, U&E, LFT

Question 21

Signs of kernicterus?

Answer 21

Jaundice spreading from head to trunk and limbs

Irritability, increased muscle tone (opisthotonus - lies with arched back), seizure, coma

Question 22

Management of jaundice?

Answer 22

Check bilirubin level w/ transcutaneous bilirubin meter/blood sample
Water and dextrose sln
Phototherapy - 450nm light converting unconjugated into water soluable

Question 23

What are the signs of respiratory distress syndrome?

Answer 23

Tachypnoea - over 60 breaths per min
Tachycardia
Laboured breathing
Cyanosis
Nasal flaring 
Expiratory grunting
Chest wall (inter/subcostal/suprasternal) recessions
Tracheal tug

Question 24

Neonate (male) born at 27 weeks gestation presents with cyanosis, chest wall recessions, nasal flaring, grunting, and tachypnoea. Mother is diabetic, C section birth & was 2nd born of premature twins. Dx and Management?

Answer 24

Dx: Respiratory distress syndrome
Rx: pre-emptively - mother given corticosteroid - to induce fetal lung maturation
CXR
CPAP/high flow O2 from nasal cannula
Surfactant therapy via tracheal tube/catheter

Question 25

Cause of respiratory distress syndrome?

Answer 25

Surfactant deficiency from Type 2 pneumocytes - as produced after 24 weeks. If born before 28 wks - increased risk

Question 26

CXR appearance in RDS?

Answer 26

Ground glass opacity with or w/o indistinct heart border

Question 27

What is early infection in neonates?

Answer 27

Infection in <48hrs of life Bacteria from birth canal and amniotic fluid --> pneumonia and bacteraemia. Congenital viral infection from mother via placenta RF: Prolonged/premature rupture of membranes

Question 28

How might a septic neonate with early infection present?

Answer 28

Fever, poor feeding, vomiting, resp distress, abdo distension, jaundice, bradycardia, seizures Meningism: tense/buldging fontanelle, head retraction

Question 29

Management for early neonatal sepsis?

Answer 29

CXR, septic screen - FBC, CRP, blood cultures (MC&S), LP if neuro signs IV antiobiotics - benzylpenicillin/amoxicillin if Gram +ve, gentamicin for -ve

Question 30

Potential complication of RDS?

Answer 30

Pneumothorax

Question 31

Management of pneumothorax?

Answer 31

Trans-illumination of chest Oxygen Possibly place chest drain

Question 32

Potential complication of pneumothorax?

Answer 32

Brain injury - intra/periventricular haemorrhage in germinal matrix

Question 33

Ix and Rx of ?haemorrhage

Answer 33

Ix: Transcranial USS Rx: LP/Ventriculoperitoneal shunt

Question 34

Pathogen for common cold/coryza?

Answer 34

rhinovirus, coronavirus, repiratory syncytial virus (RSV)

Question 35

10 month infant presents with fever and ear tenderness. O/E tympanic membrane bright red and buldging. Dx and cause?

Answer 35

Acute otitis media. RSV/rhinovorus/H. influenzae

Question 36

Complication(s) of otitis media?

Answer 36

mastoiditis, meningitis

Question 37

Rx of otitis media?

Answer 37

Paracetamol/ibuprofen. Amoxicillin if child unwell for 2-3 days

Question 38

3 year old chil presents with pain, swelling and tenderness over cheek. dx and Rx?

Answer 38

Sinusitis. broad spec abx/analgesia

Question 39

2 year old child presents in A&E in autumn with hoarseness, barking cough harsh stridor that is worse at night. O/E some signs of respiratory distress, coryzal symptoms & fever. Cause and Rx?

Answer 39

Croup (laryngotracheobronchitis) - mucosal inflammation and increased oedema and secretions - parainfluenza (also RSV, rhinovirus) Rx: DO NOT EXAMINE THROAT/moist air inhalation (causes great pain) Moderate/severe croup -> admit PO dexamethasone 150MICROg/kg, prednisolone, nebulised adrenaline, analgesia, high flow O2 if low sats, n

Question 40

2 differentials to croup?

Answer 40

``` Pseudomembranous croup (bacterial tracheitis) Acute epiglottitis ```

Question 41

18 month child - barking cough, stridor, very high fever and appears toxic. Cause and rx?

Answer 41

Bacterial tracheitis - S. aureus. | Rx: IV cefotaxime and clindamycin

Question 42

4 year old child presents with septicaemia, shock, minimal cough, v painful throat, drooling, soft stridor. Found sat upright and mouth wide open in A&E. Cause and Rx?

Answer 42

Acute epiglottitis - H. influenzae (type b). Rx: Refer for laryngoscopy, call anaesthetist, ENT, paediatrician and intubate (or tracheostomy if unable) Blood cultures IV cefuroxime Rifampacin to close contacts

Question 43

A 3 month old infant presents to A&E with rhinorrhoea, cough, mild fever (<39), wheeze, SOB and RD signs. O/E - cyanosis, widespread fine inspiratory crackles, tachycardia, lung hyperinflation (liver and spleen palpable). Cause and risk factors?

Answer 43

Bronchiolitis - most common severe LRTI - viral infection of bronchioles. Common: Resp syncytial virus, human metapneumovirus, adenovirus Uncommon: rhinovirus RF: Winter, older siblings, nursery attendance, passive smoke, worse if bronchopulmonary dysplasia (premature), congenital heart disease, CF

Question 44

Ix for bronchiolitis?

Answer 44

Pulse oximetry Immunofluorescence of nasopharyngeal aspirate - RSV rapid antigen test If uncertainty: CXR - hyperinflation of lung, focal atelectasis, flattening of diaphragm FBC, U&E Cultures if: pyrexia >38.5 or child is toxic

Question 45

Rx for bronchiolitis

Answer 45

Mostly self limiting 7-10 days Supportive: humidified O2 via head box (esp if sats <92% OA), monitor O2 sats, NG feeding/fluids, resp support Suction for ++ secretions Refer if: abnormal feeding 50%+, increased resp effort, cyanosis, RR>70, sats <94%

Question 46

Prevention of bronchiolitis?

Answer 46

Palivizumab - MCAB against RSV - reduces admissions but expensive and IM injection Vaccination - if immunodeficient Infection control

Question 47

2 yr old presents w/ fever >38.5, cough for 13 days, rapid breathing, lethargy, poor feeding. Recently had URTI. O/E: tachypnoea, nasal flaring, grunting, end inspiratory coarse crackles

Answer 47

Dx: Bacterial Pneumonia Inflammation of lung parenchyma excluding bronchi - caused by colonisation of nasopharynx New born: B strep, enterococci Infants: RSV, S. pneumoniae, H. influenzae Over 5s: S. pneumoniae, M. peumoniae

Question 48

Diagnostic definition of pneumonia and what would indicate it is bacterial in nature?

Answer 48

Cough and breathing difficulty for <14 days. Bacterial usually if child <3 yrs w/ fever >38.5, resp rate >50

Question 49

Ix and Rx of pneumonia?

Answer 49

Ix: CXR shows dense fluffy opacities occupying portion/whole lobe, blunting of costo-phrenic angle Rx: O2 sats if <92%, IV fluids, broad spec abx if newborn, amoxicillin if older Macrolides if no response if if suspected mycoplasma/chlamydia If associatd w/ influenza - co-amoxiclav

Question 50

2 mo old presents with a 2 week history of a worsening spasmodic cough worse at night that is like a whoop often followed by vomiting. The child has epistaxis and subconjunctival haemorrhaging. What could Dx be? Cause? How would you investigate and treat?

Answer 50

Pertussis/whooping cough - caused by Bordetella pertussis. Ix: Pernasal swabs and PCR Rx: Macrolides eg clarithromycin for 3 weeks in catarrhal phase Abx prophylaxis to household contacts School exclusion - 48hrs after commencing abx or 21days from onset of symptoms if no abx Prevention: pregnant women get vaccine 20-32 weeks

Question 51

Complications of pertussis?

Answer 51

Prolonged illness, petichae on cheek, retinal/conjunctival bleeding, , inguinal hernias, frenual tears, bronchiectasis

Question 52

2 yr old just returned from family visit to Bangladesh presents with cough, anorexia, failure to thrive, malaise. Likely Dx and cause? Ix?

Answer 52

TB - M. tuberculosis Ix: Tuberculin test, IFN-gamma release array blood test, blood cultre with Ziehl-Neelson stain CXR: consolidation and cavities. Miliary spread (fine white dots) rare but grave

Question 53

Rx of TB. Monitoring and Risk of these drugs?

Answer 53

Rifampicin, Isoniazid, pyrazinamide. | Check LFTs and U&E before. Rifampicin can increase bilirubin. Isoniazid can cause neuropathy (give pyridoxine)

Question 54

When should you suspect primary immunodeficiencies? How should you manage?

Answer 54

``` SPUR Significant Persisent Unusual Recurrent infections Boys - as many are X-linked Rx: Prompt and liberal abx T cell defects - Pneumocystis jiverocii pneumonia - Co-trimoxazole B-cell defect - bronchiectasis - azithromycin ```

Question 55

5 yr old child presents with an persistent and recurrent expiratory wheeze, which is worse at night and in the morning. Has hay fever and eczema. Probable dx and cause?

Answer 55

Asthma Atopic - IgE mediated by dust mites, pollen and pets with associated eczema and hay fever. Non atopic - allergens, cold air, smoking, exercise, anxiety Path: bronchial inflammation with oedema, increased mucus production and T cell infiltration and airway narrowing

Question 56

Dx and Ix of asthma?

Answer 56

Peak flow - diurnal variation Skin prick test to see triggers CXR usually normal can r/o other

Question 57

Rx of asthma

Answer 57

1) Short acting beta2 agonist (SABA) - salbutamol 2) SABA + Very low (paediatric dose) inhaled corticosteroid (ICS) - beclametasone eg clenil 3) SABA + PD ICS + leukotriene receptor antagonist (LTRA) eg Montelukast 4) SABA + ICS + LABA 5) SABA + mainentaince and reliever therapy (MART) - ICS, with fast acting LABA (eg formoterol) in single inhaler 6) increase dose of ICS MART 7) SABA + one of: Increase ICS to high dose, add theophylline If child is <5 - stop at step 3 (SABA + ICS + LTRA) and then refer to paediatric asthma specialist

Question 58

Describe a moderate, severe and life threatening acute asthma attack

Answer 58

Acute (moderate): moderate O2 sats >92%, peak flow > 50% predicted, no clinical features of severe asthma Severe: Too breathless to talk/feed, use of accessory muscles, increased RR, tachycardia, peak flow 33-50% predicted Life threatening: Silent chest, altered consciousness, cyanosis, <92% saturations, peak flow <33% predicted, poor respiratory effort CXR might show harrisons sulci on CXR (horizontal groove along lower thorax)

Question 59

Rx of acute asthma attack?

Answer 59

Oxygen Salbutamol Neb via spacer Hydrocortisone IV Ipatropium bromide If not responding: IV salbutamol/aminophylinne, IV Mg SO4, HDU If responding: prednisolone PO 3-5 days

Question 60

Describe the aetiology and pathology of cystic fibrosis

Answer 60

Autosomal recessive defect in cystic fibrosis transmembrane conductance regulator (CFTR) gene on chrms 7 (delta508 on long arm)- leading to defective Cl- channel --> reduced Cl- transport out of cells and increased Na+ reabsorption -> water drawn in --> thicker mucous and secretions --> Infections w/ Pseudomonas aeruginosa, S aureus, Aspergillus, Burkholderia cepacia

Question 61

Clinical features of CF in newborn? How is it diagnosed? what immediate treatment given?

Answer 61

Meconium ileus (failure to pass meconium in 24hr - v thick and sticky) --> give gastrografin enema or surgery Exocrine insufficiency - lipase, amylase, proteases Hyperinflation of chest due to air trapping Prolonged jaundice

Question 62

Sx of CF in infancy?

Answer 62

Meconium ileus Failure to thrive Recurrent chest infections - S. aureus, p. auruginosa, h. influezae Malabsorption and steatorrhoea

Question 63

Sx of CF in young child?

Answer 63

Bronchiectasis Sinusitis Rectal prolapse (due to bulky stools) Nasal polyps

Question 64

Sx of CF in adolescent?

Answer 64

``` Short stature Delayed puperty Allergic bronchoplmonary aspergillosis DM Cirrhosis and portal HN Distal intestinal obstruction syndrome Sterility in males ```

Question 65

Ix of CF?

Answer 65

Sweat test - elevated Cl- levels (normal 10-40nmol/L, CF if >60) - stimulate using pilocarpine ionotrophersis - collect in capillary tube and filter paper Note: false positive if: malnutrition, adrenal insufficiency, glycogen storage disease, nephrogenic DI, hypothyroidism, hypoparathyroidism, G6PD False negative: skin oedema (pancreatic exocrine insufficiency --> hypoalbuminaemia/hypoproteinaemia) Faecal elastase - low levels (exocrine insufficiency) Genetic testing of CFTR chrms 7 Spirometry - FEV1 indicates severity

Question 66

Management of CF?

Answer 66

Review annually Resp - Physiotherapy BD - deep breathing, exercise Airway clearing - chest percussion and postural drainage Minimise contact w/ other CF patients - minimise cross infection Abx prophylaxis - PO flucloxacillin, nebulised ciprofloxacin Nutrition - pancreatic replacement, high calorie & fat diet, fat soluble vitamin supplements, enteric coated replacement at every meal, feed overnight w/ gastrostomy Bilateral lung/heart transplant - end stage If CF pt has homozygous delta F508 mutation: Lumacaftor - increases number of CFTR proteins transported to cell surface Ivacoaftor - potentiator of CFTR that are already at cell surface - allows more channels to be open

Question 67

Signs and causes of hypermobility?

Answer 67

Cause: normal younger females, can be sign of Ehlers-Danlos - AD connective tissue disorder - affects collagen III -> tissue more elastic ``` Elastic, fragile skin Pain confined to lower limb, symmetrical hyperextension of thumbs and fingers, elbows and knees hyperextended beyond 10 degrees, palms placed on floor without bending knees (joint hypermobility) Joint dislocation Easy bruising Aortic regurg, mitral valve prolapse, aotic dissection SAH, angioid haemorrhage also: Downs, Marfans ```

Question 68

14 yr old child male presents w/ knee pain after exercise, swelling over tibial tuberosity and hamstring tightness. Cause and rx?

Answer 68

Osgood Schlatter - (tibial apophysitis) - type of osteochondritis of patella tendon insertion at tibial tuberosity - caused by repeated avulsion of apophysis where patellar tendon inserted into. Rx: reduce activity, physiotherapy, hamstring stetches, orhthotics

Question 69

5 yr old boy presents with sudden onset pain in hip and thigh. No pain at rest but decreased ROM, especially internal rotation of hip, low grade fever. Had recent viral infection. Dx and Rx?

Answer 69

``` Transcient synovitis (irritable hip) Rx: bed rest and analgesia (supportive) ```

Question 70

What is Perthes disease and what would a common presention be?

Answer 70

Avascular necrosis of capital femoral epiphysis of femoral head due to interruption of blood supply and revascularization and reossification over 18-36mo - causing infraction of bone Males 4-8 from low socioeconomic background with limb, hip and knee pain, stiffness and reduced hip ROM

Question 71

Ix and Rx of Perthes?

Answer 71

Ix: X-ray of both hips - early changes - widening of joint space, increased density in femoral head (decreased size), flattening & sclerosis If symptoms persist and on XR - can do technetium bone scan or MRI Rx: rest, physiotherapy, traction, plaster casts and braces, surgery Complications: OA and premature fusion of growth plates

Question 72

7 yr old girl presents with joint swelling and pain in joints along with sore/red eyes and dysuria. recently had food poisoning with Campylobacter. Dx and Rx?

Answer 72

Reactive arthritis | NSAIDs

Question 73

18 month (<2yr) old child presents acutely unwell, febrile (fever >38.5), with erythematous, tender joint they are holding still. They cry if it is moved. Dx and cause of this/

Answer 73

Septic arthritis - infection of joint space usually with S. aureus, H. influenzae from haematogenous spread, or adjacent osteomyelitis, wound puncture, infected skin lesion

Question 74

Ix and Rx of septic arthritis?

Answer 74

Ix: raised WCC, cultures, USS, Xray to r/o trauma, joint aspiration and cultures Rx: Iv antiobiotics - flucloxacillin, surgical drain/lavage joint

Question 75

What are the signs and management of a non-accidental fracture?

Answer 75

Inconsistent story, neglected child, previous healed fractures Rx: Initial medical management and refer to social services, possibly police

Question 76

What is a septic screen and what does it screen for?

Answer 76

Blood culture, FBC w/ WCC, U&E, CRP, urine sample

Question 77

How is close contact defined?

Answer 77

prolonged contact in household setting for 7 days prior to illness

Question 78

C/I and important considerations to meningitis prophylaxis

Answer 78

Rifampacin - interacts w/ OC pill which reduces efficacy, antivirals, atorvastatin, warfarin, teratogenic, also stains secretions orange (rifampicin not used anymore) Ciprofloxacin - risk of C diff

Question 79

15 (<16) yr old had persistent joint swelling for >6 weeks with stiffness after long periods of rest (gelling) in the morning and long car rides in 4 different joints, a salmon pink rash and deterioration of mood. Dx and Ix?

Answer 79

Juvenile idiopathic arthritis (systemic onset = Still's disease) Bloods - normal FBC, inflamm markers, negative Rh factor. Antinuclear factor positive in oligoarthropathies

Question 80

Difference between poly and oligoarthropathies?

Answer 80

Based on no. of joints affected in 1st 6 months Poly = more than 4 Oligo = 1-4

Question 81

Name 6 systemic features of JIA

Answer 81

Fever, salmon-pink rash,Lymphadenopathy, organomegaly, serositis, , uveitis, anorexia and weight loss macrophage activation syndrome: high fever, purpuric rash, hepatosplenomegaly, raised ferritin

Question 82

Complications of JIA?

Answer 82

Anterior uveitis, flexion contracture of joints, growth failure (anorexia), anaemia, delayed puberty, osteoporosis, amyloidosis (rare but leads to proteinuria and renal failure)

Question 83

Rx for JIA?

Answer 83

Methotrexate NSAIDs Intra-articular corticosteroid injections Systemic steroids - avoid due to growth failure and osteoporosis - pulsed IV methylprednisolone Cytokine immunotherapies - anti-TNFa - Entanercept/infliximab

Question 84

Which professionals should care for a child with JIA?

Answer 84

Paediatric rheumatologists and nurses w/ knowledge of disease and treatment for family education, ophthalmologists, orthopaedics, physio, OT

Question 85

12 (10-15) year old overweight boy presents with waddling gait, groin and knee and distal thigh pain. OE inability to internally rotate leg when in flexion. Dx, Cause and management?

Answer 85

Dx: Slipped upper femoral epiphysis (SUFE) Cause: displacement of epiphysis postero-inferiorly Management: AP + lateral X-ray (frog leg) Internal fixation - single cannulated screw in centre of epiphysis to prevent avascular necrosis

Question 86

Difference between wheeze and stridor?

Answer 86

Wheeze: Obstruction of intrathoracic (lower) airways --> increased effort and added expiratory noises Stridor: Obstruction of upper airways (trachea and larynx) --> increased effort and added inspiratory noises

Question 87

What are common signs of osteoporosis in children?

Answer 87

1 or more vertebral crush fractures Autosomal recessive Radiology: lack of differentiation between cortex and medulla - 'marble bone'

Question 88

Name 3 inherited causes of osteoporosis

Answer 88

Osteogenesis imperfecta Inborn error - galactosemia Haematological problems

Question 89

Name 5 acquired causes of osteoporosis

Answer 89

``` Drug - steroids endocrinopathies malabsorption immobilisation inflammation ```

Question 90

Infant presents with impaired growth, fractures, deformity, deafness, blue sclera, triangular face, spinal curvature and hernias. They have bone pain. Dx, cause and management?

Answer 90

Osteogenesis imperfecta - autosomal causing defects in type 1 collagen (decreased synthesis of pre-alpha 1 or pro-alpha 2) They are deaf due to otosclerosis Rx: MDT, bisphosphonate eg pimidronate

Question 91

Cause, presentation and management of rickets/osteomalacia?

Answer 91

Cause: Lack of vitamin D Pres: bowed legs, knock-knees w/ splayed metaphysises Funnel chest Slow growth Hypotonia (hypocalcaemia) Fractures Osteomalacia: bone pain, proximal myopathy, muscle tenderness, fractures Ix: low 25(OH) vitamin D, raised alk phos, low Ca and phosphate XR: cupped, ragged metaphyseal surfaces Rx: Vitamin D supplements + calcium

Question 92

Cause, presentation, management of vitamin D defficiency?

Answer 92

``` Usually from maternal insufficiency Bowed legs Hypocalcaemic convulsions Gross motor delays Carpo-pedal spasm Rx: Vit D and calcium ```

Question 93

7 month infant presents with non blanching rash raised off the skin over lower limbs (extensor surfaces) and buttocks, polyarthritis, abdo pain, haematuria and proteinuria. Likely Dx and Rx?

Answer 93

Henoch-Shoenlein purpura - an IgA mediated small vessel vasculitis Rx: paracetamol Supportive eg fluids Monitor renal function - if worsening - biopsy kidney If significant renal pathology = steroid and immunomodulation (limited evidence)

Question 94

Triad of HSP?

Answer 94

Purpura Arthritis Abdo pain

Question 95

1 yr old girl (think 6mo-5yr) afro-Caribbean origin (or Chinese/Japanese) presents w/ 6 (>5) day spiking fever of >39, cracked lips, strawberry tongue, bilateral non-purulent conjunctivitis (conjunctival injection), palmar & sole erythema, oedema, desquamation of hands and feet, cervical lymphadenopathy, non-vesicular widespread rash. Like dx and cause?

Answer 95

Kawasaki's disease - idiopathic self limiting auto-immune systemic vasculitis of small/medium arteries

Question 96

Presentation and cause of septicaemic rash secondary to meningitis?

Answer 96

Non blanching purpuric rash with re/purple petichae (<3mm). Bleeds below skin due to consumputive coagulopathy (DIC). Endotoxins from bacteria cause thrombosis, consumption of platelets and clotting factors not produced by liver --> bleeding

Question 97

Diagnostic criteria of Kawasaki's?

Answer 97

4 of: inflammatory mouth, lips, tongue, pharynx Bilateral non-purulent conjunctivitis Erythema, oedema, desquamation of hands/feet non-vesicular widespread rash cervical lymphadenopathy OR Coronary artery aneurysms on echo

Question 98

Complications of Kawasaki's?

Answer 98

Coronary -> artery aneurysms -> narrowing vessels from scar tissue --> myocardial ischaemia and sudden death Gallop rhythm, myocarditis, pericarditis Mortality 1-2%

Question 99

Ix for Kawasakis?

Answer 99

High CRP, ESR and platelets (2nd week) Echocardiography - check for cardiac vessel aneurysms/pericarditis ECG - other cardiac involvement

Question 100

Rx and their risks of Kawasaki's?

Answer 100

High dose aspirin - Reyes syndrome is risk - severe progressive encephalopathy affecting children and accompanied by fatty infiltration of liver, kidneys and pancreas. causes vomiting, lack of energy, brain damage. More commonly GI upset, bleeding/buising IV IG - analphylaxis, renal failure, headache, N&V Mg Severe cases: steroids, anti-TNF, ciclosporin PCI for coronary complications

Question 101

4 (2-6) yr old presents with fine punctate erythema (pin head) on torso, facial flushing, circumoral pallor, strawberry tongue. Rash then on chest, axillae, and behind ears. High fever, malaise, headache, N and V. Likely dx, cause and rx? complications if unctreated?

Answer 101

Scarlet fever - erythrotoxins released from strep. pyogenes. (Group A strep) Dx: throat swab but commence abx immediately Rx: Penicilin V (azithromycin if allergic) for 10 days. Return to school 24 hr after starting abx Notifiable disease Can cause otitis media (most common) glomerulonephritis - 10 days after, rheumatic fever (infective endocarditis) - 20 days after

Question 102

Name some normal/unharmful birth marks/rashes in newborns

Answer 102

Strawberry marks Port wine stain - permanent capillary haemangioma Naevi Mongolian blue spot - dark marks Café au lait patch - but be aware >5 = neurofibromatosis Milia/milk spots = sebacius plugs Infantile urticaria - erythema toxicum - histamine reaction

Question 103

11 months infant presents with itchy macular rash followed by papules, vesicles, and crusty pustules which are very itchy. Recent history of high fever. Dx? Cause? Complications?

Answer 103

Chicken pox - from varicella zoster virus. Can cause Secondary bacterial infection of lesions - usually cellulitis but rarely invasive group A strep - can cause necrotizing fasciitis gingivostomatitis, eye disease (blepharitis, conjunctivitis, corneal ulceration), aseptic meningitis, encephalitis Pneumonia Encephalitis (+/- cerebellar involvement) Disseminated haemorrhagic chickenpox Arthritis, nephritis, pancreatitis rarely Mx: Keep cool, trim nails, calamine lotion School: exclude for 5 days after onset of rash Immunocomprimised and newborns w/ peripartum exposure - receive varicella zoster IG If chicken pox develops - give IV aciclovir

Question 104

Painful rash in dermatomal region under axilla. Cause?

Answer 104

Reactivation of HSV and neuronal infection = shingles

Question 105

What is the 6 in 1 vaccination and when do infants get it?

Answer 105

Diptheria, tetanus, pertussis, polio, Hib, hepatitis B. 8, 12 and 16 weeks

Question 106

When rotavirus vaccination?

Answer 106

8 and 12 weeks

Question 107

When pneumococcal vaccination?

Answer 107

8 and 16 weeks, 1yr

Question 108

when men B vaccination?

Answer 108

8 and 16 weeks, 1 yr

Question 109

Hib and Men C vaccination?

Answer 109

1 year of age

Question 110

MMR vaccination?

Answer 110

1 year and 3 yrs 4 months

Question 111

What is the 4 in 1 vaccination and when?

Answer 111

Diphtheria, tetanus, whooping cough, polio 3yrs and 4 months

Question 112

When to give BCG?

Answer 112

Child likely to come into contact with TB in at risk countries

Question 113

When to give a flu vaccine?

Answer 113

"at risk" groups

Question 114

What is the 3 in 1 teenage booster and when to give?

Answer 114

Diphtheria, tetanus, polio - 14 yrs

Question 115

Men ACWY?

Answer 115

14 years and freshers

Question 116

When give chickenpox vaccine?

Answer 116

If at risk to giving to immunocompromised sibling

Question 117

When HPV?

Answer 117

12-13 yr old female and males! and booster 6 months later

Question 118

How is short stature defined and what makes it more likely to be pathological?

Answer 118

Height below second centile (2SDs below mean). Further from mean - more likely to be pathological Measure height velocity Compare to weight Compare to genetic expected height - mean of fathers and mothers. 7cm added if boy, 7cm subtracted if girl

Question 119

Normal causes for short stature?

Answer 119

Familial - short parents | Constitutional delay - normal variety

Question 120

Causes of pathological short stature?

Answer 120

Extreme prematurity Chromosomal disorder - Downs, Turners, Noonan Nutritional - coeliac, crohns, CF, congenital heart defect Psychosocial deprivation Endocrine - hypothyroidism, iatrogenic corticosteroid/cushings

Question 121

What treatment can you give to short stature children and in what circumstances?

Answer 121

Biosynthetic growth hormone SC OD in: | GH deficiency, prada-willi syndrome, CKD

Question 122

Causes of pathological tall stature and Rx?

Answer 122

Endocrine: congenital adrenal hyperplasia, precocious puberty (early epiphyseal fusion) Genetic: Marfan, Klinefelter Rx: testosterone/oestrogen therapy - induce early epiphyseal fusion

Question 123

Define premature sexual development

Answer 123

Development of secondary sexual characteristics before 8 in females and 9 in males

Question 124

Causes of precocious puberty in girls? How might this be ruled out?

Answer 124

Gonadotrophin dependent - true: Ovaries sensitive to gonadotrophins - due to premature activation of the hypothalamic-pituitary-gonadal axis - FSH and LH raised Gonadotrophin independent: due to excess sex hormone - FSH and LH low Congenital adrenal hyperplasia --> excess androgens Pituitary tumour R/o w/ USS ovaries - pear shape

Question 125

causes of precocious puberty in boys? What investigation

Answer 125

Testes not sensitive to gonadotrophins (independent) Adrenal pathology - tumour/hyperplasia - has small testes Bilateral testes enlargement - intracranial tumour (hypothalamus) Unilateral gonadal enlargement - gonadal tumour (eg Leydig tumour) Ix: MRI hypothalamus

Question 126

Management of precocious puberty?

Answer 126

Detect underlying pathology Address psychological/behavioural difficulties Dependent: GnRH analogues, independent: inhibitors of androgen production eg medroxyprogesterone acetate

Question 127

Define delayed puberty

Answer 127

absence of pubertal development by 14 yrs in females, 15yrs in boys

Question 128

Causes of delayed puberty?

Answer 128

Constitutional delay - most common Low Gn secretion - CF, crohns, anorexia nervosa, Kallman syndrome (LHRH deficiency and inability to smell), hypothyroidism High Gn secretion - Klinefelter (47, XXY), Turner (45, XO) Delayed puberty w/ short stature: Turner's syndrome Prader-Willi syndrome Noonan's syndrome ``` Delayed puberty with normal stature polycystic ovarian syndrome androgen insensitivity Kallman's syndrome Klinefelter's syndrome ```

Question 129

How do you assess male puberty

Answer 129

Pubertal staging using testicular vol

Question 130

Rx for pubertal delay?

Answer 130

Often not needed - reasurrence | If required - oxondrolone - androgenic anabolic steroid - iduce growth catch up

Question 131

How might an undescended testes present - 3 different types - and how is it managed?

Answer 131

Dx on routine examination Palpable - seen/felt in groin - cannot be manipulated Impalpable - inguinal canal, intraabdo or absent Retractile - can be manipulated into scrotum with ease Rx: Orchidoplexy - surgical placement of testis in scrotum

Question 132

2 week old female neonate presents with faltering growth, feeding problems, jaundice, constipation, hypotonia, puffy face, pale mottled skin, hoarse cry, large tongue. Dx, potential cause and Rx?

Answer 132

Congenital hypothyroidism - Dysgenesis - failure of descent from base of tongue to normal Iodine deficiency - world wide Dyshomonogenesis - thyroid hormone synthesis error Rx: Normal neonatal screen - cord blood/filter paper spots - raised TSH Levothyroxine 10-15micrograms/kg/day

Question 133

13 yr old girl presents with weight loss, sweating, diarrhoea, tremor, tachycardia and palpitations, and behavioural problems. Likely dx, cause, Ix and Rx? Potential risk of treatment

Answer 133

Dx: Hyperthyroidism - often from autoimmune thyroiditis - anti-thyroid-stimulating immunoglobins TFT - TSH v low, T3/T4 v high, antithyroid peroxisomal antibodies present Rx: Carbimazole/propylthiouracil - but risk of neutropenia (look for sore throat/high fever)

Question 134

How could you differentiate between different causes of congenital hypothyroidism?

Answer 134

USS/radioisotope scan as dysgenesis is a structural abnormality

Question 135

Screening has helped prevent primary congenital hypothyroidism (cretinism). What are the symptoms?

Answer 135

Mental/physical disability, faltering growth, feeding problems, prolonged jaundice, constipation, pale/cold/mottled skin, coarse facies, large tongue, hoarse cry, goitre

Question 136

5 yr old girl presents with weight loss for 3 weeks, polyuria, polydipsia. Recently became unresponsive, had stomach pain, low GCS, dehydration, vomiting, kussmauls breathing (deep and rapid), pear-drop breath. How would you manage this child and what is the likely dx? How is it defined?

Answer 136

Diabetic ketoacidosis - hyperglycaemia (>11.1mmol/L)- due to uncontrolled lipolysis - results in excess free fatty acids converted into ketone bodies , acidosis (venous pH<7.3) Immediately 0.9% (10ml/kg) w/ 40mmol KCl for first 12 hours -correct dehydration be wary of cerebral oedema too fast Insulin (fast acting eg Actrapid) (0.1 units/kg/hr) after 1 hour - gradual reduction Confirm dx w/ hx/finger prick test, FBC, weigh, U&E, Ca, Calculate correct fluid vol infusion w/ KCl 20mmol/500mL. + 5% glucose if blood glucose <14mmol/L After 12 hr - when plasma sodium stable - 0.45% saline + 5% glucose + 20mmol/500mL KCL Stop insulin when ketones are <1mmol/L Monitor and treat infection

Question 137

10 day old neonate presents collapsed and shocked. What is the differential dx of unwell neonate?

Answer 137

- Sepsis/infection - Cong heart defects (VSD/ASD) - Persistent pulmonary hypertension - Surgical emergencies – eg necrotizing enterocolitis - Trauma - Inborn errors of metabolism

Question 138

Immediate management of collapsed and shocked neonate?

Answer 138

IV saline, glucose, hydrocortisone

Question 139

Neonate is vomiting, dehydrated, has ambiguous genitalia. | U&E shows low Na, high K, increase in plasma 17-hydroxyprogesterone and metabolic acidosis. Dx and cause?

Answer 139

Congenital adrenal hyperplasia - caused by deficiency of: 21/11/17-alpha hydroxylase from CYP21. Cortisol inadequately produced --> increased adrenocortical precursors/adrenal hyperplasia/overproduction of androgenic cortisol precursors --> v high testosterone

Question 140

How would you manage a neonate with congenital adrenal hyperplasia in first 24 hrs and why?

Answer 140

Mineralcorticoids - fludrocortisone if salt loss NaCl after Neonates often salt losers as 21-hydroxylase needed for aldosterone synth

Question 141

How would you manage a child with congenital adrenal hyperplasia after initial presentation?

Answer 141

Lifelong glucocorticoids eg hydrocortisone - supress ACTH levels (and thus testosterone)  normal growth - Monitor growth, skeletal maturity, plasma androgens and 17α-hydroxy-progesterone (insuffiency  increased ACTH/androgens excess  rapid growth of skeletal maturation at expense of final height (excess hormone  skeletal growth) - Additional hormone replacement

Question 142

How might an older boy present with CAH?

Answer 142

Large penis and scotum pigmented

Question 143

How might an older girl present with CAH

Answer 143

Virilisation of external genetalia, clitoral hypertrophy, fusion of labia - Salt-losing crisis less common in girls as virilisation noted early  - Tall stature in 20% of non salt-losers – both male and female – muscular build, adult body odour, pubic hair, acne from excess androgens  precocious puberty - Later: psychosexual problems from high androgens

Question 144

Antenatal treatment for CAH?

Answer 144

Prenatal diagnosis if previous child affected | - Dexamethasone given to mother  supress foetal androgen over secretion.

Question 145

6 year old girl presents with a 3 week history of polyuria, lethargy, polydipsia, weight loss, poor growth and recent infections. What is the dx, cause and diagnosis?

Answer 145

Type 1 diabetes mellitus - caused by T cell mediated destruction of beta cells in islets of Langerhans. Dx: signs of hyperglycaemia with venous blood glucose of 7mmol/L (fasting)/>11.1mmol/L (random). Or raised glucose on 2 occasions, no symptoms Autoantibodies: anti-islets of Langerhans, anti-insulin, anti-GluAD

Question 146

What is the management of T1DM

Answer 146

Paediatric diabetes MDT and endocrinologist 1/3 rapid acting (Novarapid), 2/3 long acting (detemir) 2/3 dose before breakfast, 1/3 dose beforfe dinner Diet - mainly unrefined carbs Education on exercise, use of devices liason with school

Question 147

Management of hypoglycaemia?

Answer 147

``` Oral glucose tablets/gel Severe: IV 5mL/kg 10% glucose If GCS still low - dexamethasone Glucagon SC/IM: 0.5mg in <5yrs 1mg >5 yrs ```

Question 148

2 different hypoglycaemias? What is hypoglycaemia classed as?

Answer 148

<2.6mmol/L blood glucose. Reactive or fasting. Autonomic: irritable, hungry, nauseous, shakey, anxious, sweaty, palpitations, pallow Neoglycaemic: Dizzy, headache, confused, drowsy, visual problems, hearing loss, problem concentrating, slurred speech, off behaviour, LOC, convulsions

Question 149

Aims of diabetes management?

Answer 149

Normal growth and development Normal childhood as possible Optimal HbA1c to avoid complications

Question 150

Complications of diabetes?

Answer 150

Retinopathy Nephropathy Neuropathy Vascular disease esp IHD

Question 151

Describe monitoring in diabetes?

Answer 151

Check HbA1c Education on alcohol, contraception, exercise Examination: eyes, urine, feet

Question 152

Order of giving fluids to children?

Answer 152

1) If shocked/collapse/hypoglycaemia/hypovolaemia: Fluid bolus 2) Correction of dehydration 3) Maintenance

Question 153

Initial bolus for child w/ hypoglycaemia?

Answer 153

10% dextrose 2ml/kg stat

Question 154

Initial bolus for child w/ hypovolaemia?

Answer 154

0.9% NaCl saline 20ml/kg stat

Question 155

Correction for dehydration calculation?

Answer 155

% dehydration x 10 x kg 0.45% (or 0.9%) NaCl saline + 5% dextrose per day (so /24 per hour)

Question 156

Calculation of maintenance in children over 6mo

Answer 156

0.45%/0.9% NaCl +5% dextrose (10mmol KCl too) 100ml/kg/dy for 1st 10kg 50ml/kg/day for next 10kg 20ml/kg/day for rest of kg

Question 157

Maintenance in neonates?

Answer 157

10% dextrose Rate: Day 1 – 60ml/kg/day - Day 2 – 90ml/kg/day - Day 3 – 120mls/kg/day - Day 4 – 150mls/kg/day Up to ~ 6 months age - From day 2: Na 3 mmol/kg/day, K 2mmol/kg/day

Question 158

How do you assume weight in children?

Answer 158

(Age +4) x 2 = weight in kg

Question 159

Describe fetal circulation

Answer 159

Blood from placenta (rick in nutrients) --> umbilical vein --> IVC --> RA Blood from RA --> LA via foramen ovale (high pressure) and then to rest of body via LV From RV --> pulmonary artery, high resistance due to fluid in lungs so ductus arteriosis connects w/ aorta

Question 160

How does fetal circulation change as a baby takes its first breaths?

Answer 160

Resistance in pulmonary blood flow falls as blood flows through (X6) --> rise in LA P Vol of blood returning to RA falls as placenta excluded (decrease in RA P) Closes foramen ovale (becomes fossa ovale) Ductus arteriosus closes in first few days and becomes ligamentum arteriosus

Question 161

Name the non-cyanotic cardiac defects

Answer 161

L to R: atrial septal defects, atrio-ventricular defects, patent ductus arteriosus

Question 162

Name 3 ASDs

Answer 162

Ostium secundum, ostium primum, sinus venosum

Question 163

What is a secundum ASD?

Answer 163

defect in centre of atrial with foreman ovale

Question 164

What is ostium primum

Answer 164

ASD at level of mitral and tricuspid valves

Question 165

What are clinical features of ASD?

Answer 165

Often non - infections, wheeze, arrhythmias, poor feeding, failure to thrive, tachypnoea Ejection systolic murmur at upper L sternal edge Split 2nd heart sound

Question 166

Ix and Rx for ASD?

Answer 166

Radiograph: cardiomegaly, enlarged pulmonary vasc ECG: RBBB Echo: anatomy Rx: cardiac catheterization device at 3-5 yrs

Question 167

How is a small or larger ventricular septal defect defined? Which will have louder pan systolic murmur?

Answer 167

Small: smaller than aortic valve diameter and has louder murmur Large: larger than aortic valve

Question 168

Infant presents with poor feeding, tachypnoea, failure to thrive, breathlessness, pan systolic murmur in LLSE that transmits to upper sternal edge, hepatomegaly, oedema, thrill and gallop rhythm. Dx, Ix?

Answer 168

Dx: Large Ventricular septal defect Ix: Radiograh - cardiomegaly, enlarged pulmonary vessels, pulmonary oedema ECG: Biventricular hypertrophy by 2 months Echo for anatomy

Question 169

Rx for VSD?

Answer 169

Diuretics - captopril Additional calorie intake via NG tube Surgery - orevent Eisenmenger syndrome

Question 170

Preterm infant presents with poor feeding, failure to thrive, tachypnoea, thrill, gallop rhythm, a continuous machinery murmur in pulmonary area (LUSE), a collapsing bounding pulse, hepatomegaly and oedema. Dx, cause, Ix and Rx?

Answer 170

Dx: Patent ductus arteriosus - due to failure of constrictor mechanism of duct Ix: Echo Rx: IV indomethacin - reduces prostaglandin and closes PDA (or IV ibuprofen) Closure w/ coil via cardiac catheter and surgical ligation

Question 171

Risk of not closing PDA?

Answer 171

Bacterial endocarditis and pulmonary vascular disease

Question 172

Why is it important to echocardiogram Downs babies?

Answer 172

More likely to have AVSD, which can lead to pulmonary vascular disease and right heart failure

Question 173

Where does the murmur arise from in AVSD?

Answer 173

Valvular regurg rather than septal defect - L AV valve has 3 leaflets and is regurgitant

Question 174

What is the hyperoxia test? (nitrogen washout test)

Answer 174

Determines presence of heart disease in cyanotic neonate Place in 100% O2 for 10 mins If RA Pa)2 still low (<15kPa) --> Dx of cyanotic congenital heart disease

Question 175

Management of cyanosed neonate

Answer 175

ABC Hyperoxia test Prostaglandin infusion Maintain ductal pantency

Question 176

Neonate is cyanosed, irritable, crying, v breathless, pallor, clubbing, loud ejection systolic murmur at L sternal edge. Dx and cause?

Answer 176

Tetralogy of fallot Large VSD Aorta over VS --> RV and LV into aorta Pulmonary stenosis --> RV hypetrophy

Question 177

Ix for tetralogy of fallot?

Answer 177

Chest radiograph - small heart, uptilted (boot shaped) apex ECG showing RV hypertrophy (uprtight T wave in V1) Echo

Question 178

Rx for tetralogy of fallot?

Answer 178

Surgery to close VSD Shunt to increase pulmonary blood flow Beta blockers may help to reduce infundibular spasm in cyanotic episodes

Question 179

What is transposition of great arteries and how might it present?

Answer 179

Aorta connects w/ RV, pulmonary artery w/ LV - incompatible w/ life unless mixing of blood. Cyanosis, S2 loud and single

Question 180

Ix and Rx of transposition of great arteries?

Answer 180

``` Radiograph - narrow upper mediastimun, inc Echo Rx: Maintain PDA w/ IV prostaglandins Ballon catheter to connect atria Sx to relocate arteries ```

Question 181

What is Eisenmenger syndrome?

Answer 181

Reversal of large L --> R (to R --> L) shunt due to pulmonary hypertension Occurs when uncorrected L--> R leads to remodelling of pulmonary microvasculature - leads to obtstrucion of pulmonary blood and htn S/S: original murmur disappears, cyanosis, clubbing, haemoptysi R sided heart failure Mx: heart-lung transplantation

Question 182

Neonate has acute circulatory collapse, absent femoral pulse (or radio-femoral delay), severe metabolic acidosis. Dx, cause, Ix, Rx?

Answer 182

Coarction of aorta - constriction reducing LV outflow Associated w/ Turners, biscupid aortic valve, berry aneurysms, neurofibromatosis Ix: Chest radiograph - cardiomegaly Do 4 limb BP - discrepancy between upper and lower blood Compare to brachials Rx: ABC, surgical repair

Question 183

Neonate with ejection systolic murmur in LUSE Murmur radiates to back R ventricular heave. Dx?

Answer 183

Pulmonary stenosis

Question 184

Weak pulses, thrill palpa in suprasternal region and carotid area Ejection systolic murmur in aortic area If severe, collapsed and acidotic. Dx?

Answer 184

Aortic stenosis

Question 185

Name some causes of heart failure in neonates and infants

Answer 185

``` Cardiomegaly secondary to congenital defects Valvular disease Arrhythmias Chronic lung disease Anaemia Hypertension Hyperthyroidism Medication - particularly chemotherapy ```

Question 186

What is growth faltering and how can it be identified?

Answer 186

Suboptimal weight gain, whereby there is a sustained drop down 2 centiles. Determine growth by plotting serial measuerments in weight, length/height, head circumference Allow for prematurity

Question 187

Name some causes of growth faltering

Answer 187

Inadequate intake - availability, psychosocial, pathology Retention - vomiting, diarrhoea, GORD Malabsorption - coeliac, CF, cows milk protein allergy Medical disorder - increased requirement

Question 188

Management of growth faltering?

Answer 188

U&E, FBC/ferritin, coeliac antibodies Food diary Health visitor - community paediatric dietician SALT

Question 189

Causes of acute abdo pain?

Answer 189

``` Appendicitis Testicualr torsion/hernia (examine testes) Peritonitis UTI/pyelonephritis Pancreatitis (check serum amylase) ```

Question 190

7 yr old boy with 1 day hx of anorexia, central colicky abdo pain (now tender RIF), tender and guarding, vomiting. Dx? Ix? Rx?

Answer 190

Acute appenditis AXR - faecoliths, lack of omentum USS Rx: Fluids, abx, appendicectomy

Question 191

Large mesenteric nodes found on laparotomy. Dx?

Answer 191

Mesenteric adenitis

Question 192

Pale child presents w/ severe colicky pain, refusing feeds, vomiting. O/E: Distended tender abdo, sausage shaped mass, blood stained mucous (red currant jellty) stool. Dx? Cause? Complication? Management?

Answer 192

Intussusception - from invaginaton of proximal bowel into distal segment (often ilium into caecum) Can follow viral infection - enlargement of Peyers' patch May cause stretching and constriction of mesentery, venous obstruction, mucosal bleeding Ix: AXR - distended small bowel, proximal air filled small bowel Abdo USS Rx: Fluids, surgical reduction

Question 193

What is concern of intestinal malrotation and how should it be managed?

Answer 193

Risk of volvulus - twisting of bowel (often sigmoid) - comprismises arterial blood to intestine - obstruction Ix: AXR: Bird beak/coffee bean/double loop sign USS to confirm Rx: Surgery to untwist

Question 194

Causes of vomiting?

Answer 194

``` GORD Pyloric stenosis Allergy Gastroenteritis Appendicitis Coeliac Testicular torsion DKA ```

Question 195

Infant has recurrent regurgitation of milk. Causes and management?

Answer 195

GORD - relaxation of lower oesophageal sphincter Often reassure as will pass PPI/Nissen fundoplication if not resolved in 12 months

Question 196

Complications of GORD?

Answer 196

Faltering growth Oesophagitis Pneumonia from aspiration

Question 197

5 week old infant presents with vomiting with increasing frequency and forcefulness that is projectile after meals, constipation O/E - Dehydrated, metabolic (hypochloraemic, hypokalaemic) alkalosis, hyponatraemia, olive shaped mass in abdo Dx? Cause? Management?

Answer 197

Pyloric stenosis - hypertrophy of pyloric muscle causing gastric outlet obstruction Give milk feed, IV fluids, USS Ramstedt pylorotomy

Question 198

What pathogens may be responsible for gastro-enteritis?

Answer 198

Common - viral: rotavirus, adenovirus, norovirus Bacteria: C. jejuni - v painful, Shigellae - dysentery, E. coli - rapidly dehydrating Protozoa - Giardia/cryptosporidium - watery stools

Question 199

What is the main concern about diarrhoea? What are the 2 main types of this?

Answer 199

Dehydration and shock Hyponatraemic dehydration - deficiency of water and Na proportionally - water shifts --> IC --> cerebral oedema and seizures Hypernatraemic - water loss exceeds Na and EC depletion more obvious

Question 200

Management of dehydration?

Answer 200

IV Fluids - 0.45% saline + 5% dextrose Stool culture (w/ MC&S) if septic or blood/mucous in stool oral rehydration sln if hypernatraemic Abx

Question 201

18 mo infant presents with faltering growth, abdo distension, irritability. O/E an erythematous macular rash is present. Appears very itchy. Cause, dx and management?

Answer 201

Coeliac. Enteropathy where gluten causes autoimmune response in proximal intestinal mucosa. Crypt hypertrophy in villi, vili. atrophy Rash: Dermatitis herpatiformis - associated Management: Ant-tissue transglutaminase and anti-endomysial antibodies present Small intestine biopsy (gold standard) - lymphocytes and pathological features Gluten free diet

Question 202

Complications of non-gluten diet in coeliac?

Answer 202

Micronutirent deficiency, osteopenia, small bowel lymphoma

Question 203

What is constipation and what may cause it?

Answer 203

Infrequent passage hardened faeces w/ straining/pain/bleeding Cause: Dehydration, anxiety, Hirschprung's disease, hypothyroid, IBD, coeliac, hypothyroidism, low fibre diet, anal fissue, over-enthusiastic potty training

Question 204

Apart from abdo pain, name other features of Crohns. How is it managed?

Answer 204

Mouth ulcers, anterior uveitis | Steroids, immunosuppressants: azathioprine, methotrexate, infliximab

Question 205

Management of constipation?

Answer 205

Stool softeners (Movicol) Stimulant laxative (senna/lactulose) High fibre diet Sit on toilet after meal (promote gastro-colonic reflex)

Question 206

After cows milk feeds, infant regurgitates, blood/mucous in stool, faltering growth, diarrhoea, urticaria, irritability, crying (colic symptoms). Likely Dx? Potential other signs? Management?

Answer 206

Cows Milk Allergy May have wheeze, stridor, vomiting, shock (IgE mediated) Or diarrhoea, faltering growth, blood in stools (non-IgE mediated) Dx: Clinical but can do skin prick test, specifc IgE for CMP. Management: If formula fed: Change to hypoallergenic extensively hydrolysed formual - eHF - (1st) amino acid formula (2nd) If breast fed: continue breastfeeding Eliminate cows milk from mother's diet (and Ca supplement). Use eHFwhen breastfeeding stops

Question 207

Neonate fails to pass meconium in forst 24hrs. Potental dx? Cause?

Answer 207

Hirschsprung's. Absence of ganglion cells from myenteric and submucosal plexi. - due to developmental failure of parasympathetic Auerbach and Meissner plexuses Can have variable distance from rectum (mostly rectosigmoidal)

Question 208

Management of Hirschprung's disease?

Answer 208

Rectal suction biopsy Excision of aganglionic segment and colostomy - absence of ganglion cells and AChE positive nerve trunks Anastomosis of normally innervated bowel to anus

Question 209

Name some congenital kidney malformations

Answer 209

Renal agenesis (Potter syndrome - fatal) Cystic kidneys - AD/AR polycystic kidney disease (AR - difuse bilateral enlargement, AD - cysts of variable sizes, englarged kidneys) Pelvic/horsehoe kidney Duplex system

Question 210

Organisms responsible for UTI?

Answer 210

Bowel flora - E. coli, Klebsiella, Proteus, Pseudomonas

Question 211

What might predispose a child to a UTI?

Answer 211

Incomplete bladder emptying/voiding | Vesicouretic reflux - ureters displaced laterally and enter directly into bladder rather than at angle

Question 212

What is proteinuria and what is a common cause? What might this be secondary to?

Answer 212

Persisent protein in urine Nephrotic syndrome - proteinuria (>1g/m^2 per 24hr), hypoalbuminaemia (<25g/L), oedema. - , 2ry to HSP, SLE, infections, allergens Heavy proteinuria --> low albumin/oncotic pressure --> oedema

Question 213

Signs of nephrotic syndrome?

Answer 213

Periorbital/scrotal/vulval/pedal oedema Ascites Breathlessness - due to pleural effusion Infections eg peritonitis/septic arthritis

Question 214

Management of nephrotic syndrome?

Answer 214

Steroid dependent: PO prednisolone high dose 4 days, then lower Steroid resistant: diuretics, salt restriction, ACE-I, refer to paediatric nephrologist

Question 215

Complications of nephrotic syndrome?

Answer 215

Hypovolaemia Thrombosis (loss of antithrombin III) Infection Hypercholesterolaemia (correlates inversely w/ albumin)

Question 216

What is haematuria and what are some common causes?

Answer 216

``` Blood in urine - >10RBC per high power field Often glomerula haematuria - brown urine Infection Renal stones Tumours Glomerulonephritis IgA nephropathy ```

Question 217

What is nephritis and what are some signs

Answer 217

``` Inflammation of renal parenchyma - decreased glomerular blood flow with decreased GFR Decreased output HTN Periorbital oedema PROTEINURIA AND HAEMATURIA ```

Question 218

Name some causes and the management of acute nephritis

Answer 218

``` Post-strep infection HSP IgA nephropathy Vasculitis SLE (low C3/C4) Rx: Treat cause, water and electrolytes balance, diuetics ```

Question 219

Biomarker in IBD?

Answer 219

Faecal calprotectin

Question 220

Apart from trimethoprim, name 2 other antibiotics for UTI?

Answer 220

Nitrofurantoin | Co-amoxiclav

Question 221

What additional formula feeds would you give for faltering growth?

Answer 221

Additional polyunsaturated fats, nucleotides, pre/probiotics

Question 222

Investigations for UTI apart from MSU and MC&S especially when antibiotics does not alleviate symptoms/recurrent UTIs

Answer 222

USS pelvis Micturating cystourethrogram (MCUG): visualize urethra and urinary bladder - for vesicouretic reflux DMSA scan - assesses renal morphology, acute pyelonephritis, evaluates renal scar

Question 223

5 yr old girl constipated, started passing small amounts of stool involuntarily. Why?

Answer 223

Most likely long standing constipation. Full rectum becomes distended and inhibits the internal sphincter - soiling

Question 224

What are the diagnostic criteria for steroid sensitive nephrotic syndrome?

Answer 224

Age between 1-10 No macroscopic haematuria Normal: BP, complement levels, renal function

Question 225

Investigations for cause of nephrotic syndrome?

Answer 225

``` Dipstick urine (protein) FBC, ESR, U&E, creatinine, albumin C3/C4 Antistreptolysin O Urine MC&S Hep b/c screen Malaria screen if been abroad ```

Question 226

Prognosis of nephrotic syndrome?

Answer 226

1/3 Resolve directly 1/3 infrequent relapses 1/3 frequent relapse and steroid dependent

Question 227

A lethargic infant presents with a cough, fever, irritability, conjunctivitis, Koplik spots, maculopapular rash which started behind ears. Dx and Rx?

Answer 227

Measles - RNA paramyxovirus Dx: IgM antibodies can be detected within few days of rash onset Supportive, isolation, ribavirin maybe useful Notifiable to PHE Complications: otitis media, pneumonia, (commonest cause of death), encephalitis 1-2 weeks after onset, subacute scelosing panencephalitis Contacts: MMR vaccine if child not vaccinated wihtin 72 hours

Question 228

A 6 year old boy has recently had a mild fever with a lacy, ill-defined maculopapular rash that started on his face and spreaded. Also has suboccipital and post auricualr lymphadenopathy. Dx and complications?

Answer 228

Rubella (togavirus) - notify PHE | arthritis, deafness, encephalitis, eye/cardiac abnormalities (myocarditis) if in utero

Question 229

Infant presents with a slapped cheek rash that spread as maculopapular rash to limbs and trunk, mild fever. Dx and cause?

Answer 229

Erythema infectiosum | Human parvovirus B19

Question 230

Non specific macular rash following high fever in febrile child. Child has Nagayama spots (papualr enanthem on uvula/soft palate) Dx and cause?

Answer 230

Roseola infantum | HHV6/7

Question 231

Fever, malaise, parotitis and oral ulcers. tender vesicles on hands, feet and around mouth. Dx and cause?

Answer 231

Hand foot and mouth disease Cocksackie A16 and enterovirus 71 High serum amylase Mx: symptomatic - hydration and analgesia

Question 232

Vesicular lesions all over a child w eczema, high fever. Dx and management?

Answer 232

Eczema herpaticum - severe primary infection of skin by HSV1/2 IV acyclovir as can become fatal

Question 233

Cause and Rx of impetigo?

Answer 233

Superficial bacterial skin infection S. aureus/ Strep. pyogenes. Goldenm crusted skin lesions around mouth - v contagious spread through itching and touching toys Mx: if limited, local disease - topical fusidic acid first line, topical retamulin 2nd line If MRSA - topical mupirocin Extensive disease - PO flucloxacillin or erythomycin if penacillin allergic Exclude child from school until lesions crusted and healed or 48hrs after starting abx

Question 234

Child w/ impetigo (or treated w/ lamotrigine) now has scalded skin that is purulent, crusting. Dx and Rx?

Answer 234

Steven-Johnsen syndrome - reaction to staph toxin | Rx: IV flucloxacillin, supportive, ITU, analgesia

Question 235

Child has fever, erythema that is tender, also around the eyes after a recent scape on the face. Dx and management?

Answer 235

Cellulitis - usually staph Check eye movements - if suspect orbital cellulitis, do head CT/MRI high dose IV ceftriaxone

Question 236

Significance of delayed developmental milestones?

Answer 236

Underlying neurological disorder/LD

Question 237

Gross motor milestones?

Answer 237

Head control - 4 months Pulls self to sit, lying on back - can left and grasp feet - 6 months Sits unsupported - 7-8 months Pulls to standing and crawls - 9 months Stands with support, cruises, walks w one hand held - 12 months Walks independently - 13-15 months Squats to pick up toy Runsm walks up and downstairs holding hand rail Rides tricyle using pedals - 3 yrs Hops on one leg - 4 yrs

Question 238

Vision and fine motor?

Answer 238

Fixes and follows visually - 3 months Reaches for object, Transfers objects between hands, palmer grasp - 6 months Points w fingers, early pincer- 9 months Pincer grip, bangs toys together - 11/12 months

Question 239

Hearing, speech and language?

Answer 239

Quietens to parents voicem turns to sound - 3 months Polysyllabic babble - 6 months Consonant babble - eg mam, dada - 9 months 2-3 words w/ meaning, knwos and responds to own name - 12 months 6 words w/ meaning, understands simple commands eg 'give it to mummy'- 12-15 months Join words, points to part of body -2 years Vocab of 200 words - 2.5 yrs 3 word sentence - 2.5 yrs Asks 'what' and 'who' qs, identifies colours, counts to 10 Asks why and how qs - 4 yrs

Question 240

Social behaviour?

Answer 240

Smiles - 6 weeks 3 months - laughs, enjoys friendly handling 6 mo - not shy Fear of stangers - ie shy and takes everything to mouth - 10 months Feeds self/spoon - 18 months Symbolic play - 2-2.5 yrs Interactive play - 3-3.5 yrs

Question 241

What is strabismus and what might cause it?

Answer 241

A misalignment of visual axes, common up to 3 mo but if persistent - get ophthamological opinion Hereditary, refractive error, cerebral palsy, cataracts, retinoblastoma (must exclude)

Question 242

How might a squint/strabismus present?

Answer 242

Tropia - gaze: esotropia - inwards, exotropia - outwards, hypertropia - upwards, hypotropia - downward Latent - eyes straight but visual axis deviates when covered = phoria Concomitant - due to imbalance of extraocular muscles Paralytic - due to paralysis of extraocular muscles

Question 243

Ix of squint?

Answer 243

Corneal light reflex | Cover test

Question 244

Rx of squint?

Answer 244

Conservative - prisms/cover good eye/orthoptic exrcises Rectus resection Botulinum toxin

Question 245

Why is treating squint important?

Answer 245

Cosmesis - psychological problems Vision - restore binuclear vision Amblyopia - permanent reduction in acquity as brains visual pathway does not develop properly

Question 246

Name 2 primitive reflexes and how long should they remain for? If they persist, what is this a sign for?

Answer 246

Moro - Infant feels they are falling due to loss of support - arms spread out, then adducts/flexes quickly, crying Galant - push baby and it will try control itself 4-6 months If persist - sign of lacking development of postural reflexes and thus an UMN lesion Grasp - flexion of finger when object placed in palm - to 5 months Rooting - assists in breastfeeding - to 4 months Stepping - if place in walking position and feet touch ground, feet 'step'

Question 247

Why is head circumference measured?

Answer 247

Reflection of brain size, development and possible syndromes

Question 248

Name some head abnormalities

Answer 248

Microcephaly - significantly smaller head (3 SD below) Macrocephaly - can explain neuro abnormalities/hydrocephalus Plagiocephaly - asymmetric flattening of the skull Brachycephaly- typical Downs presentation Oxycephaly - cranial facial syndrome Scaphopcepahly - sagittal suture fused, seen in preterm babies - protruding forehead

Question 249

What systemic features may indicated a neurological condition?

Answer 249

café au lait, iris Lish nodules (neurfibibroma) Port wine stain - bleed in occipital part of trigeminal nerve Ash leaf macule - tuberous sclerosis

Question 250

Thin upper lip, fish mouth appearance, jovial personality but immature with age, supravalvualr aortic stenosis, short stature, learning difficulty. What syndrome?

Answer 250

Williams - dx by FISH studies

Question 251

Aggressive behaviour but no dysmorphic features. What syndrome?

Answer 251

Smith-Magenis

Question 252

Low muscle tone, drop attacks, falls, seizures, blond/albinism. What syndrome?

Answer 252

Angelman

Question 253

Seizures and microcephaly. What syndrome?

Answer 253

Rett

Question 254

Emotional output eg laughing leads to LOC. Dx?

Answer 254

Cataplexy

Question 255

Excessively sleepy. Dx?

Answer 255

Narcolepsy

Question 256

Random uncontrolled eye movements. Dx and significance?

Answer 256

Opsoclonus myoclonus syndrome. Can indicate a neuroblastoma.

Question 257

Name some movement disorders and their relevance in children

Answer 257

Shuddering - channelopathies Motor tics - can be up to 6-7 months but if last longer than 1 yr - tourettes Motor stereotypes - fast hand movements - in autistic children

Question 258

What is a seizure?

Answer 258

A paroxysmal abnormality of motor, sensory, autonomic or cognitive dysfunction due to hypersynchronous electrical activity and brain dysfucntion

Question 259

What is a convulsion and name different types

Answer 259

A seizure with motor components: Tonic - stiff Myoclonic - massive jerking Clonic - jerking Hypermotor - thrashing about

Question 260

5 yr old child has fever and tonic clonic seizure following viral infection lasting less than 5 mins Dx? Management?

Answer 260

``` Febrile seizure Find cause - treat esp if suspect meningitis urine cultures, LP Rx: Anti-pyretics If >5min dration - buccal midazolam ``` Simple - <15 mins, generalized, no reccurence in 24hrs, should recover in 1 hr Complex - 15-30mins, focal seizure, may have repeat w/in 24hs Febrile status epilipeticus - >30mins

Question 261

Toddler is upset, crying, holds breath, goes blue, LOC. Dx?

Answer 261

Blue breath holding spell

Question 262

Toddler in pain due to head trauma. became pale, fell to floor, tonic clonic seizure. There was a rapid recovery. Dx and cause?

Answer 262

Reflex asystolic syncope/anoxia in response to pain/emotional stimuli - neuralll linked - sensitive vagal cardiac reflexes Due to cardiac asystole from vagal inhibition

Question 263

Toddler walking up legs to standing position (Gower's sign). Likely dx?

Answer 263

Duchene's muscular dystrophy

Question 264

Neonate has white/clay coloured stool. They are jaundiced for over 14 days with yellow urine. O/E - hepatosplenomegaly. Dx? Management?

Answer 264

Biliary atresia | Urgent kasai procedure

Question 265

Describe a generalized seizure

Answer 265

The electrical discharge arises from both hemispheres. Loss of consciousness Symmetrical Bilateral activity seen on EEG

Question 266

Types of generalized seizures?

Answer 266

Absence - transient LOC Myoclonus - brief jerks of limbs, neck, trucnk, diaphragm Tonic - increased muscle tone Atonic - myoclonic jerk then loss of tone, sudden fall Tonic clonic - rhythmic contraction, rigid tonic phase. Apnoea and cyanosis. Then clonic phase - limb jerking, incontinence, tongue biting. Then unconsciousness

Question 267

Describe focal seizures and their types

Answer 267

Seizures arise from one part/hemisphere and consciousness retained Frontal - motor/premotor areas - clonic and travel proximally (Jacksonian march), Todds paralysis. Tonic - arms raised fro several seconds Temporal lobe - strange aura/smell/taste/distorted sounds and shapes, lip smacking, automatism Occipital - visual hallucinations Parietal - contralateral altered senation

Question 268

How is Epilepsy diagnosed

Answer 268

Detailed Hx from eye witness - what triggers? Clinical markers - eg neurocutaneous Video telemetry Interrictal EEG MRI/CT ECG - arrhythmias Fucntional imaging - PET/SPECT - hypometabolsm

Question 269

How is epilepsy managed?

Answer 269

Tonic clonic - valproate, carbamazepine, lamotrigine Absence - Ethosuxamide, lamotrgaine, valproate Myoclonic - valproate, levetiracetam ,topiramate Focal - carbamazepine, levetiracetam, valporate

Question 270

SE of valproate?

Answer 270

``` Valproate Ataxia Liver failure Pancreatitis Reversible hair loss Oedema Appetite increase (weight gain) Teratogenicity Encephalopathy ```

Question 271

SE of carbamazepine?

Answer 271

Rash, hyponatraemia, ataxia, liver enzyme induction - affects OCP

Question 272

SE of lamotrigine?

Answer 272

Insomnia, ataxia, rash, steven-johnson syndrome

Question 273

4-8 male mo infant has violent flexor spasms of head, trunk and limbs, followed by extension of the arms (salaam attacks). 20-30 bursts. Dx? Ix? Rx?

Answer 273

West syndrome (Infantile spasms) Ix: EEG - hypsarrhythmia in 2/3 of infants CT - diffuse/localised brain disease eg tuberous sclerosis Mx: Poor prognosis but vigabatrin 1st line, ACTH

Question 274

2 yr old w/ various seizure types - has had atypical absences, falls and jerks. Often in sleep. Neurodevelopmental delay. PMH of West syndrome. Dx?

Answer 274

Lennox-Gastaut syndrome | Ketogenic diet may help

Question 275

6 yr old male w/ tonic clonic seizures in sleep, abnormal sensation in face - unilateral paraesthesia when waking up, hypersalivation. Dx?

Answer 275

Benign Rolandic epilepsy

Question 276

8yr old w/ momentary unresponsive stare w/ motor arrest. No memory of epside. Later develops juvenile myoclonic epilepsy. Initial dx?

Answer 276

Childhood absence epilepsy EEG: 3Hz generalized symmetrical Mx: valproate, ethosuxamide

Question 277

12 yr old female w/ myoclonic, tonic clonic, absence, described as clumsy as thows drnks/cereal - sudden, shock like myoclonic. Dx and Rx?

Answer 277

Juvenille myoclonic epilepsy (Janz syndrome) | Rx: sodium valproate

Question 278

What advice would you give to parents with epileptic children?

Answer 278

``` Promote independence Notify school Avoid deep baths, swimming unsupervised Informa about SUDEP Adolescents - must be 1 yr seizure free to drive, stay concordant - ie no alcohol/poor sleep, contraception - levitaracitem has few interractiosn ```

Question 279

What is cerebral palsy?

Answer 279

Umbrella term for permanent disorder fo movement, posture and motor function due to non-progressive abnormality of brain. Accompanied by cognitive, behavioural, communication and visual problems

Question 280

Causes of cerebral palsy?

Answer 280

80% cerebrovascular haemorrgahe/ischaemia/malformation, infection (rubella, toxoplasmosis, CMV) antenatal 10% hypoxic-ischaemia/trauma during delivery 10% postnatal meningitis/encephalitis, head injury, hydrocephalus, intraventricular haemorrhage

Question 281

Clinical features of CP?

Answer 281

Abnormal limb/trunk posture, tone and gait Delayed milestones Feeding difficulties Persistent primitive reflex

Question 282

Describe levels 1-5 on the gross motor function classification

Answer 282

Level 1 - Walking without impairment Level 2 - walking with impairment Level 3 - walking using handheld mobility device Level 4 - Self-mobility with limitations - may use powered mobility Level 5 - Transported in manual wheelchair

Question 283

What is spastic cerebral palsy and what causes it?

Answer 283

Most common - 90% - damage to pyramidal tracts. Spasticity Brisk reflexes Presents early - neonate

Question 284

Describe the different presentations of spastic cerebral palsy

Answer 284

Hemiplegic (unilateral) - one arm/leg flexed, fisting, initially hypotonic then hypertonic, pronated forearm Quadriplegia (bilateral) - all 4 limbs affected, trunk involved, extensor posturing, poor head control, intellectual impairment Diplegia (bilateral) - All 4 limbs but legs more affected, often preterm, abnormal walking, squints, walking on toes

Question 285

Child has dyskinesia, variable muscle tone, primitive reflexes, chorea, slow writhing finger movements, floppiness. Child was jaundiced as neonate. Dx? How common?

Answer 285

Dyskinetic cerebral palsy | 6% of CP

Question 286

Child has low tone in trunk and limbs unilaterally, inco-ordinated movements, ataxic gait, intension tremor. Dx? Cause? How common?

Answer 286

Ataxic cerebral palsy 4% Injury to cerebellum and its connections Can also have mixed

Question 287

Management of CP?

Answer 287

Give dx to parents ASAP MDT Rx for hypertonia/spasticity - PO diazempam, botulinum toxin IM, intrathecal baclofen, selective dorsal rhizotomy, deep brain stimulation Anticonvulsants, analgesia as required

Question 288

Why might clinical signs change over time in CP?

Answer 288

Pathology follows corticospinal tract lesion

Question 289

Diagnosis of CP?

Answer 289

Clinical examination - posture tone, hand function, gait

Question 290

Investigation to confirm dx of CP?

Answer 290

Imaging eg CT/MRI may confirm lesion

Question 291

What healthcare professionals may be involved in child w/ CP and why?

Answer 291

``` SALT - feeding, language OT - ADLs, house adaptions Physio - balance, posture, gait, orthoses Psychologist (clinical/educational) Paediatrician Specialist health visitor Dietician Social worker - housing, benefits, nursery ```

Question 292

Prognosis of juvenile myoclonic epilepsy?

Answer 292

Response to treatment usually good but lifelong. Remission unlikely

Question 293

Prognosis of absence seizure?

Answer 293

Respond well to lamotrigine and remission unlikely

Question 294

What is the difference between a concomitant and non comitant squints?

Answer 294

Concomitant - magnitude is same regardless of gaze. | Non comitant - magnitude varies dependent on gaze

Question 295

What type of squint may require imaging of the head and orbit?

Answer 295

A paralytic squint that varies with gaze (non comitant) due to paralysis recti, possibly due to space occupying lesion pressing on CN3/4/6

Question 296

What is Down's syndrome and name some clinical features?

Answer 296

``` Trisomy at chromosome 21. Round face Epicanthic folds Flat nasal bridge Upslanted palpebral fissures Brushfield spots in iris Small ears Flat occiput and 3rd fontanelle Short neck Single palmar crease, pronounced 'sandle gap' between big and 1st toe Hypotonia Congenital heart defects - AVSDs, VSDs, secundum ASDs, TOF, PDA Duodenal atresia, Hirschsprung's Later in life - subfertility (esp females). learning difficulties, ahort, hearing impairment (glue ear), ALL, Alzheimers, hypothyroid, resp infections ```

Question 297

Dx of Down's?

Answer 297

Real time PCR FISH (fluorescence in situ hybridization) Antenatal screening - Combined test - nuchal translucency, serum B-hCG, pregnancy associated plasma protein A - between 11-13+6 weeks If later - either do triple (AFP, uncongugated oestriol, HCG) or quadruble test (AFP, uncongugated oestriol, HCG + inhibin A) Amniocentesis/chorionic villus sampling if increased risk

Question 298

What is Edward's syndrome and what causes it? Name some features

Answer 298

``` Trisomy 18 Low birthweight Prominent occiput Small mouth/chin (micrognathia), Flexed overlapping fingers Cardiac/renal malformations Low set ears Rocker bottom feet ```

Question 299

What is Patau's syndrome, cause? Features?

Answer 299

``` Trisomy 13 Structural brain defects Microphthalmia/other eye defects (small eyes) Cardiac/renal defects Cleft lip/palate Polydactyly Scalp lesions ```

Question 300

What causes Turner syndrome. Name some features.

Answer 300

2n=45, XO (deletion of short arm of X chrms) or only 1 set od X chrms (X) short stature shield chest, widely spaced nipples webbed neck bicuspid aortic valve (15%), coarctation of the aorta (5-10%) primary amenorrhoea cystic hygroma (often diagnosed prenatally) high-arched palate short fourth metacarpal multiple pigmented naevi lymphoedema in neonates (especially feet) gonadotrophin levels will be elevated hypothyroidism is much more common in Turner's horseshoe kidney: the most common renal abnormality in Turner's syndrome

Question 301

Management of Turners syndrome

Answer 301

Growth hormone | Oestrogen to induce secondary sexual characteristics

Question 302

What is Klinefelter syndrome? Cause? Features?

Answer 302

2n=47, XXY - born male Infertility Hypogonadism - lack of secondary sexual characteristics, infertile Small firm testes Tall stature Gynaecomastia - w/ increased evididnce of breast Elevated Gns but low testosterone

Question 303

Name 4 mitochondrial disorders

Answer 303

Maternal inheritance MELAS (mitochondrial encephalopathy, lactic acidosis, stroke like episodes) MERRF (myoclonic epilepsy, red ragged fibres - on histology) DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, deafness - sesnorineural) Leber's hereditary optic atrophy Kearns-Sayre syndrome - pts <20, external ophthalmoplegia, retinitis pigmentosa, ptosis

Question 304

What is Prada-Willi syndrome? Cause? Features?

Answer 304

``` Imprinting - paternal copy of 15q11-13 missing Hypotonia during infancy Poor feeding Developmental delay Hyperphagia/obesity Small genatalia - hypogonadism Dysmorphic features Short stature LD Obesity Behavioural problems ```

Question 305

Cause of Angelman syndrome? Features?

Answer 305

Imprinting - maternal copy of 15q11-13 missing Severe cognitive impairment Ataxia Epilepsy "Happy puppet" - unprovoked laughing/clapping, microcephaly

Question 306

Child complications of maternal diabetes?

Answer 306

Macrosomnia as fetal hyperglycaemia - can cause shoulder dystocia and brachial plexus injury Hypoglycaemia Resp distress Polycythaemia

Question 307

Child complocations of maternal hyperthyroid?

Answer 307

Hyperthyroidism - as anti-TSH crosses placenta and stimulates thyroid hormone production Tachycardia, irritability, heart failure, diarrhoea Rx: carbimazole, propylthiouracil

Question 308

Child complications of congenital rubella?

Answer 308

Before 8 weeks: Deafness, congenital heart defects, cataracts Up to 16 weeks: Impaired hearing

Question 309

A baby is born and is not crying soon after birth. It is thought they are not able to breathe. Management?

Answer 309

``` Resuscitation ABC - chin lift, jaw thrust mask ventilation - 5 inflation breaths If still unresponsive - 2 finger chest compressions 3:1 (90 compressions:30 breaths) Drugs: Epinephrine if HR <60 Sodium bicarbonate if acidotic Dextrose if hypoglycaemia ```

Question 310

What is late onset neonatal infection. What might cause?

Answer 310

Infection >48h after birth Environmental factors - arterial/venous lines, procedures Coagulase negative staph eg staph epidermidis Gram +ve - S. aureus, E. faecalis Gram -ve - E. coli, Klebsiella, Pseudomonas

Question 311

Management of late onset infection?

Answer 311

Flucloxacillin and gentamicin | If resistant - vancomycin/meropenem

Question 312

Baby born to diabetic mother. Now jittery, irritable, apnoeic, lethargic, had seizures. What is likely diagnosis? Why should it be prevents and how should it be treated?

Answer 312

Hypoglycaemia Glucose should be kept >2.6mmol/L as can cause neurological diability/poor development Rx: IV dextrose through central line, glucagon

Question 313

Premature baby born at 27 weeks who is hypoglycaemic. How and when should you feed. Why not too quickly. How should you monitor?

Answer 313

Parental feeds through PIC - could also have breast Don't build up too quickly - increased risk of jaundice Monitor w/ blood tests, U&E, monitor on GROWTH CHARTS

Question 314

Long term complications of sepsis in neonate?

Answer 314

Retinal haemorrhage/detachment Progressive hearing loss Bronchopulmonary dysplasia Cerebral palsy

Question 315

Ix for ?osteogenesis imperfecta

Answer 315

DNA test PCR saliva - mutations in COL1A1 and COL1A2

Question 316

Inheritance pattern of osteogenesis imperfecta

Answer 316

Autosomal dominant

Question 317

Agencies involved in numerous fractures that is queries OI?

Answer 317

Social services - exclude child abuse Clinical geneticist Orthopaedics Charities eg brittle bone society

Question 318

A 2 day old neonate weighing 1450g. Lots of abdo distension, tenderness, blood in stools. The infant appears shocked with signs of DIC. On AXR, there appears gas in the gut walls. What is the possible dx? Name of XR feature and what might this be a risk for? Management?

Answer 318

Necrotizing enterocolitis Pneumatosis intestinalis (intramural gas) - may cause PERFORATION - check using AXR/transillumation Portal venous gas Pneumoperitoneum -> perforation Air both inside + outside bowel (Rigler sign) Air outlining falciform ligament (football sign) Stop oral feeds - total gut rest and TPN barrier nurse culture faeces Abx: cefotaxime + vancomycin Laparotomy if at risk of perforation Note - increased risk if empirical abx used beyond 5 days Prevention: breast feeding - lactoferrin in milk stimulates young gut to mature

Question 319

Describe the ideal environment to nurse a premature neonate

Answer 319

Avoid hypothermia - in incubator | Low humidity to avoid heat loss

Question 320

How might prematurity affect a babies lungs

Answer 320

Little/no: surfactant, aveoli (so lreduced alveoli SA) Reduced lung volume Increased risk of pneumothroax

Question 321

How might prematurity affect the nervous system?

Answer 321

``` Not all synapses made Brainstem not myelinated - causes apnoea of prematurity Ventricular haemorrhages Retinopathy of the newborn Hearing problems ```

Question 322

Neonate with RDS 950g weight and 37 weeks postmenstrual age. Weaning off ventilator is hard and w/o, neonate becomes hypoxic. CXR shows hyperinflation with round, radiolucent areas. Histolog shows necrotizing bronchitis with alveolar fibrosis. Dx? management? Concerns?

Answer 322

``` Bronchopulmonary dysplasia Remain on ventilation If weaned - CPAP/high flow nasal canulla Corticosteroids Concerns: neurodevelopment/CP Subsequent pertussis/RSV/rhinovirus infection ```

Question 323

What is the age, HR and RR of a neonate?

Answer 323

<28 days RR: 44-60 HR: 140-160

Question 324

Age, HR, RR of infant

Answer 324

1-12 months RR: 30-40 HR: 130-140

Question 325

Age, HR, RR of toddler?

Answer 325

1-3 yrs RR: 25-30 HH: 100-120

Question 326

Age, HR, RR of preschool child?

Answer 326

3-5 yrs RR: 20-25 HR: 85-100

Question 327

Age, HR, RR of child?

Answer 327

6-12 yrs RR: 20-25 HR: 85-100

Question 328

Age, HR, RR of adolescent?

Answer 328

12-16 yrs RR: 16-20 HR: 70-80

Question 329

What could count as child abuse?

Answer 329

Physical injury Sexual abuse Emotional abuse Neglect

Question 330

Predisposing factors of child abuse?

Answer 330

``` Lack of support Parents abused themselves Deprivation Mental health issues LD Drugs and alcohol Domestic violence ```

Question 331

How might a child present who is being abused?

Answer 331

Injuries not consistent with history - many injuries, wrong site, unusal shape Lack of development Injuries found at school Superficial burns, bruises Immobile infant with (multiple) femur fractures Shaken baby: hypoxia, subdural haematoma, rob fractures, retinal haemorrhages SEXUAL ABUSE (check genitalia)

Question 332

What is neglect and what forms does it exist in?

Answer 332

A standard of care that does not meet the needs of the child Lack of food/drink/shelter Poor grooming, health/dental care, education, appropriate social opportunities, discipline

Question 333

What forms might emotional abuse take?

Answer 333

high in criticism, low in warmth, isolating from friends, ignoring, terrorising

Question 334

How should you examine a child ?abuse

Answer 334

Record explanations Use body charts to document injuries Photographs Include genetalia

Question 335

How should you deal with a case you suspect is child abuse?

Answer 335

``` Medical assessment - FBC, swabs Development assessment Social services Police Case conference - multiagency Register on list of children subject to child protection Review ```

Question 336

A 14 year old girl presents with unexplained cuts on her wrist. She has a couple of bandages on her other wrist. She refuses to go gym or swim. What might might be happening and why?

Answer 336

``` Self harm - choosing to inflect pain on themselves Means of communicating Low self esteem/poor body image Numb feelings Depression - hopelessness, suicidal Disrupted upbringing - divorce, abuse Gender issues ```

Question 337

How should a self harming child be managed?

Answer 337

Respect, understand, be mindful of distress Explore underlying reasons Triage - psychological assessment - needs, risk of suicide Treatment - analgesia, referral for psychological/pharmacological treatment CAHMS referral if high risk, CBT, MAST if low risk (multi agency support team), urgent appt, distraction (creative, fun)

Question 338

Tuberous sclerosis

Answer 338

Genetic mutation of TSC1 or TSC2 - causes harmartous lesions + autosomal dominant Cutaneous features: depigmented 'ash-leaf' spots which fluoresce under UV light roughened patches of skin over lumbar spine (Shagreen patches) adenoma sebaceum (angiofibromas): butterfly distribution over nose fibromata beneath nails (subungual fibromata) café-au-lait spots* may be seen Neurological features developmental delay epilepsy (infantile spasms or partial) intellectual impairment Also retinal hamartomas: dense white areas on retina (phakomata) rhabdomyomas of the heart gliomatous changes can occur in the brain lesions polycystic kidneys, renal angiomyolipomata lymphangioleiomyomatosis: multiple lung cysts Ix: CT/MRI head, renal USS, echo, EEG Rx: antiepileptics

Question 339

Describe the physical aspects of a newborn screen

Answer 339

Head circumference Fontanelles Arms/hands - palmar crease, fingers Thorax - auscultate heart sounds/breathe sounds Palpate abdo Legs - femoral pulse, Barlow and ortolani test - try induce dislocation for developmental dysplasia of the hip (tests are positive) Check anus, genitals Neuro: assess posture, hearing test - assess red reflex for RETINOBLASTOMA

Question 340

What is the Guthrie test?

Answer 340

A heel prick blood test to test in new-born: hypothyroidism, sickle cell, CF, phenylketonuria, G6PD deficiency, maple syrup urine disease, isovaleric acidaemia, glutaric aciduria type 1, homocystinuria, medium chain acyl-CoA dehydrogenase deficiency

Question 341

When might a newborn have anaemia at birth?

Answer 341

Haemolytic disease of newborn | Bleeding - umbilical cord, internal haemorrhage

Question 342

Newborn presents with severe anaemia, and hepatosplenomegaly. Mother is Rh -. Likey Dx? Why does this happen? Management?

Answer 342

Erythroblastosis fetalis Rh- mother delivers Rh+ baby - mother produces anti-D IgG Subsequent pregnancy - anti-D crosses placenta and causes haemolysis Rx: Prevention of sensitization w/ Rh immune globulin

Question 343

Normal full term baby delivered but at 2 months old, now amaemic. What might this be and why?

Answer 343

Physiological anaemia Plasma dilution with increasing blood volume Shorter RBC lifespan (50-70 days) Switch from HbA from HbF (has lower oxygen affinity)

Question 344

Neonate born at 30 weeks has poor weight gain, pallor, decreased activitiy and tachycardic. Dx? Why?

Answer 344

Amaemia of prematurity Low birth weight --> poor EPO response Hb level declines after birth

Question 345

Infant presents with pallor, irritability, anorexia, tachycardia, splenomegaly. Had low borth weight. What is dx and specific type? Management?

Answer 345

Iron deficient anaemia - microcytic hypochromic | Oral iron 6mg/kg/day for 3-6 months (ferrous fumerate syrup)

Question 346

Black infant presents with pain, hypoxia, fever, aggression. O/E there is cardiomegaly, low pulse O2. Likely dx? Why? Management?

Answer 346

Sickle cell disease - sickling of Hb - HbSS (autosomal recessive) causes infarction and pain Rx: Pain releif - Hydrate, O2, ibuprufen, morphine Hydroxycarbamide - increases HbF, transfusion

Question 347

What might predispose an aplastic crisis?

Answer 347

Parvovirus B19 infection

Question 348

How might haemolytic anaemia present?

Answer 348

Hyperbilirubinaemia, ascities, failure to thrive, leg ulcers, aplastic crisis

Question 349

How might G6PD present?

Answer 349

neonatal jaundice due to: non-spherocytic haemolytic anaemia Intravascular haemolysis Sporadic haemolysis

Question 350

What is thalassaemia

Answer 350

Reduced globin chain synthesis

Question 351

Infant presents with severe anaemia, low MCV, jaundice, splenomegaly, failure to thrive. Dx and Rx?

Answer 351

Beta thalassaemia | Genetic counselling, blood trasnfusions, iron chelation, bone marrow transplantation

Question 352

Child has anaemia, infection (and low WCC) and bruises easily. What is happening and causes?

Answer 352

Bone marrow failure Aplastic anaemia, dyskeratosis Bone marrow infiltration - leukaemia, lymphoma, neuroblastoma, Langerhans cell histiocytosis Bone marrow failure syndrome - Fanconi's anaemia - aplastic anaemia, increased risk of AML, skeletal abnormalities - short stature, café au lait spots

Question 353

A 2 year old boy presents with acute burising, petichiae and purpura on his extremities and assicated bleeding 2 months after a viral URTI. Likely Dx and Rx?

Answer 353

ITP - idiopathic thrombocytopenic purpura Most recover spontaneously Ix: FBC - isolated thrombocytopenia Rx: if excessive bleeding - rituximab, anti D. If fails, splenectomy

Question 354

Boy with mild bleeding. Associated family history. APTT is raised and Factor VIII decreased. Likely Dx and Rx?

Answer 354

Von Willebrand disease - abnormality of vWF | Rx: transexamic acid, Factor VIII/vWF if severe

Question 355

Newborn boy presents with prolonged bleeding, even from his muscles and joints, mouth and bruises very easily. There is a family history. Blood tests show decreased Factor VIII/XI and increased APTT Dx? Inheritance? Treatment?

Answer 355

Heamphilia A or B - X-linked recessive | Rx: Factor VIII/XI

Question 356

5 year old presents with pallor, infection and bleeding, fatigue, anorexia, weight loss, fever, bone pain, plainless cervical lymphadenopathy. Dx, Ix and Rx?

Answer 356

Acute lymphoblastic leukaemia (ALL) Ix: FBC - normocytic, normochomic anaemia, thrombocytonpenia, CSF: pleocytosis, high protein, low glucose, blast cells in marrow Rx: Induction - chemotherapy, consolidation - chemo and radiotherapy and maintenance

Question 357

Child shows signs of sepsis. Immediate management?

Answer 357

``` High flow oxygen Take blood cultures IV abx Start IV resuscitation Check lactate and review w/ senior clinicians Check urine output Inotropic support ``` ``` Blood cultures Urine output Fluids Antibiotics Lactate Oxygen ```

Question 358

3 year old boy presents with large abdominal mass, painless haematuria, flank pain, anorexia, fever and anaemia. What do you need to r/o? How would you manage?

Answer 358

Nephroblastoma (Wilm's tumour) - of embryonic renal tissue. USS/CT - show intrinsic renal mass Renal biopsy - shows areas of necroiss, epithelial tubules Rx: chemo then nephrectomy Radiotherapy in advanced tumour Stage tumour

Question 359

On newborn screen, a squint is noticed and there is a white pupillary reflex (leukocoria). What do you need to r/o and how?

Answer 359

``` Retinoblastoma - malignant tumour of retinal cells - AD loss of function of retinoblastoma gene on chrms 13 MRI under anaesthetic Rx: Chemo, External beam radiation rx to retina Photocoagulation Enucleation of eye ```

Question 360

A newborn, thought to have aspirated meconium, now presents with respiratory distress, respiratory acidosis, loud S2, harsh systolic murmur, cyanosis, and signs of hypotension and shock. What is the likely dx? What causes it and how should it be managed?

Answer 360

Persistent pulmonary hypertension of the newborn - failure of normal circulatory transition R--> L shunt at foramen ovale and ductus arteriosus Dx: gradient of 10%+ in preductal and postductal arterial gases in absence of structural defect Rx: O2, ventilation, NO inhalation, IV prostaglandins

Question 361

Before escalating asthma therapy, what should you ask in history?

Answer 361

How often using salbutamol inhaler? How many courses of oral steroids (4-5 - bad control)? Hospital admissions recently? ICU?

Question 362

Definition of sepsis?

Answer 362

Dysregulated host response leading to end organ dysfunction (SIRS) in response to infection. Often from streptococcal/meningococcal bacteraemia

Question 363

Neurofibromatosis

Answer 363

``` Inherited AD NF1 - (=von Recklinghausen's syndrome) - neurofibromin gene on chrms 17 - most common Café-au-lait spots >6 Axillary/groin freckles Peripheral neurofibromas Iris harmatomas (Lisch nodules) Scolisis ``` NF2 - chrms 22 gene Bilateral vestibular schwannomas Multiple intracranial schwannomas Meningiomas + ependyomas