Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Phase 3a > Paediatrics > Flashcards

Paediatrics Flashcards

1
Q

Describe risk factors for neonatal sepsis risk factors and its management

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Describe the pathology of meningitis

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Presentation of meningitis?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Ix for meningitis?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

LP signs for bacterial vs viral meningitis?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Complications of meningitis?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Management of meningitis?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

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

A

ciprofloxacin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

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

A

UTI - usually E. coli

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Rx of UTI?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Risk of recurrent UTI in childhood?

A

Renal failure in young adulthood

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

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

A

Osteomyelitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Investigation for ?osteomyelitis?

A

Blood culture and X-ray

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What organism might a blood culture show in osteomyelitis?

A

Gram positive cocci - S. aureus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Rx for osteomyelitis?

A

IV cefuroxime 1 week

PO cefuroxime 5 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Why are newborns more likely to be jaundiced?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Newborn presents jaundiced. What is the significane of this?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

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

A 
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Signs of kernicterus?

A

Jaundice spreading from head to trunk and limbs

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Management of jaundice?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are the signs of respiratory distress syndrome?

A 
Tachypnoea - over 60 breaths per min
Tachycardia
Laboured breathing
Cyanosis
Nasal flaring 
Expiratory grunting
Chest wall (inter/subcostal/suprasternal) recessions
Tracheal tug
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Cause of respiratory distress syndrome?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

CXR appearance in RDS?

A

Ground glass opacity with or w/o indistinct heart border

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What is early infection in neonates?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

How might a septic neonate with early infection present?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Management for early neonatal sepsis?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Potential complication of RDS?

A

Pneumothorax

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Management of pneumothorax?

A

Trans-illumination of chest
Oxygen
Possibly place chest drain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Potential complication of pneumothorax?

A

Brain injury - intra/periventricular haemorrhage in germinal matrix

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Ix and Rx of ?haemorrhage

A

Ix: Transcranial USS
Rx: LP/Ventriculoperitoneal shunt

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Pathogen for common cold/coryza?

A

rhinovirus, coronavirus, repiratory syncytial virus (RSV)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

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

A

Acute otitis media. RSV/rhinovorus/H. influenzae

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Complication(s) of otitis media?

A

mastoiditis, meningitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Rx of otitis media?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

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

A

Sinusitis. broad spec abx/analgesia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

2 differentials to croup?

A 
Pseudomembranous croup (bacterial tracheitis)
Acute epiglottitis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

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

A

Bacterial tracheitis - S. aureus.

Rx: IV cefotaxime and clindamycin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Ix for bronchiolitis?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Rx for bronchiolitis

A

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%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Prevention of bronchiolitis?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

Ix and Rx of pneumonia?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

Complications of pertussis?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

Rx of TB. Monitoring and Risk of these drugs?

A

Rifampicin, Isoniazid, pyrazinamide.

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

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

A 
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

Dx and Ix of asthma?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

Rx of asthma

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

Describe a moderate, severe and life threatening acute asthma attack

A

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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

Rx of acute asthma attack?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

Describe the aetiology and pathology of cystic fibrosis

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

Sx of CF in infancy?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

Sx of CF in young child?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

Sx of CF in adolescent?

A 
Short stature
Delayed puperty
Allergic bronchoplmonary aspergillosis
DM
Cirrhosis and portal HN
Distal intestinal obstruction syndrome
Sterility in males
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

Ix of CF?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

Management of CF?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

Signs and causes of hypermobility?

A

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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

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?

A 
Transcient synovitis (irritable hip)
Rx: bed rest and analgesia (supportive)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

Ix and Rx of Perthes?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

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?

A

Reactive arthritis

NSAIDs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

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/

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

Ix and Rx of septic arthritis?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

How is close contact defined?

A

prolonged contact in household setting for 7 days prior to illness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

C/I and important considerations to meningitis prophylaxis

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
80
Q

Difference between poly and oligoarthropathies?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
81
Q

Name 6 systemic features of JIA

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
82
Q

Complications of JIA?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
83
Q

Rx for JIA?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
84
Q

Which professionals should care for a child with JIA?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
85
Q

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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
86
Q

Difference between wheeze and stridor?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
87
Q

What are common signs of osteoporosis in children?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
88
Q

Name 3 inherited causes of osteoporosis

A

Osteogenesis imperfecta
Inborn error - galactosemia
Haematological problems

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
89
Q

Name 5 acquired causes of osteoporosis

A 
Drug - steroids
endocrinopathies
malabsorption
immobilisation
inflammation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
90
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
91
Q

Cause, presentation and management of rickets/osteomalacia?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
92
Q

Cause, presentation, management of vitamin D defficiency?

A 
Usually from maternal insufficiency
Bowed legs
Hypocalcaemic convulsions
Gross motor delays
Carpo-pedal spasm
Rx: Vit D and calcium
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
93
Q

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?

A

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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
94
Q

Triad of HSP?

A

Purpura
Arthritis
Abdo pain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
95
Q

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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
96
Q

Presentation and cause of septicaemic rash secondary to meningitis?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
97
Q

Diagnostic criteria of Kawasaki’s?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
98
Q

Complications of Kawasaki’s?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
99
Q

Ix for Kawasakis?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
100
Q

Rx and their risks of Kawasaki’s?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
101
Q

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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
102
Q

Name some normal/unharmful birth marks/rashes in newborns

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
103
Q

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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
104
Q

Painful rash in dermatomal region under axilla. Cause?

A

Reactivation of HSV and neuronal infection = shingles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
105
Q

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

A

Diptheria, tetanus, pertussis, polio, Hib, hepatitis B.

8, 12 and 16 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
106
Q

When rotavirus vaccination?

A

8 and 12 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
107
Q

When pneumococcal vaccination?

A

8 and 16 weeks, 1yr

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
108
Q

when men B vaccination?

A

8 and 16 weeks, 1 yr

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
109
Q

Hib and Men C vaccination?

A

1 year of age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
110
Q

MMR vaccination?

A

1 year and 3 yrs 4 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
111
Q

What is the 4 in 1 vaccination and when?

A

Diphtheria, tetanus, whooping cough, polio

3yrs and 4 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
112
Q

When to give BCG?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
113
Q

When to give a flu vaccine?

A

“at risk” groups

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
114
Q

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

A

Diphtheria, tetanus, polio - 14 yrs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
115
Q

Men ACWY?

A

14 years and freshers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
116
Q

When give chickenpox vaccine?

A

If at risk to giving to immunocompromised sibling

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
117
Q

When HPV?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
118
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
119
Q

Normal causes for short stature?

A

Familial - short parents

Constitutional delay - normal variety

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
120
Q

Causes of pathological short stature?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
121
Q

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

A

Biosynthetic growth hormone SC OD in:

GH deficiency, prada-willi syndrome, CKD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
122
Q

Causes of pathological tall stature and Rx?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
123
Q

Define premature sexual development

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
124
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
125
Q

causes of precocious puberty in boys? What investigation

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
126
Q

Management of precocious puberty?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
127
Q

Define delayed puberty

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
128
Q

Causes of delayed puberty?

A

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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
129
Q

How do you assess male puberty

A

Pubertal staging using testicular vol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
130
Q

Rx for pubertal delay?

A

Often not needed - reasurrence

If required - oxondrolone - androgenic anabolic steroid - iduce growth catch up

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
131
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
132
Q

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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
133
Q

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

A

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)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
134
Q

How could you differentiate between different causes of congenital hypothyroidism?

A

USS/radioisotope scan as dysgenesis is a structural abnormality

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
135
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
136
Q

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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
137
Q

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

A
  • Sepsis/infection
  • Cong heart defects (VSD/ASD)
  • Persistent pulmonary hypertension
  • Surgical emergencies – eg necrotizing enterocolitis
  • Trauma
  • Inborn errors of metabolism
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
138
Q

Immediate management of collapsed and shocked neonate?

A

IV saline, glucose, hydrocortisone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
139
Q

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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
140
Q

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

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
141
Q

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

A

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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
142
Q

How might an older boy present with CAH?

A

Large penis and scotum pigmented

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
143
Q

How might an older girl present with CAH

A

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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
144
Q

Antenatal treatment for CAH?

A

Prenatal diagnosis if previous child affected

- Dexamethasone given to mother  supress foetal androgen over secretion.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
145
Q

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?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
146
Q

What is the management of T1DM

A

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

147
Q

Management of hypoglycaemia?

A 
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
148
Q

2 different hypoglycaemias? What is hypoglycaemia classed as?

A

<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

149
Q

Aims of diabetes management?

A

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

150
Q

Complications of diabetes?

A

Retinopathy
Nephropathy
Neuropathy
Vascular disease esp IHD

151
Q

Describe monitoring in diabetes?

A

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

152
Q

Order of giving fluids to children?

A

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

153
Q

Initial bolus for child w/ hypoglycaemia?

A

10% dextrose 2ml/kg stat

154
Q

Initial bolus for child w/ hypovolaemia?

A

0.9% NaCl saline 20ml/kg stat

155
Q

Correction for dehydration calculation?

A

% dehydration x 10 x kg 0.45% (or 0.9%) NaCl saline + 5% dextrose

per day (so /24 per hour)

156
Q

Calculation of maintenance in children over 6mo

A

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

157
Q

Maintenance in neonates?

A

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

158
Q

How do you assume weight in children?

A

(Age +4) x 2 = weight in kg

159
Q

Describe fetal circulation

A

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

160
Q

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

A

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

161
Q

Name the non-cyanotic cardiac defects

A

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

162
Q

Name 3 ASDs

A

Ostium secundum, ostium primum, sinus venosum

163
Q

What is a secundum ASD?

A

defect in centre of atrial with foreman ovale

164
Q

What is ostium primum

A

ASD at level of mitral and tricuspid valves

165
Q

What are clinical features of ASD?

A

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

166
Q

Ix and Rx for ASD?

A

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

167
Q

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

A

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

168
Q

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?

A

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

169
Q

Rx for VSD?

A

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

170
Q

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?

A

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

171
Q

Risk of not closing PDA?

A

Bacterial endocarditis and pulmonary vascular disease

172
Q

Why is it important to echocardiogram Downs babies?

A

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

173
Q

Where does the murmur arise from in AVSD?

A

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

174
Q

What is the hyperoxia test? (nitrogen washout test)

A

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

175
Q

Management of cyanosed neonate

A

ABC
Hyperoxia test
Prostaglandin infusion
Maintain ductal pantency

176
Q

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

A

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

177
Q

Ix for tetralogy of fallot?

A

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

178
Q

Rx for tetralogy of fallot?

A

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

179
Q

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

A

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

180
Q

Ix and Rx of transposition of great arteries?

A 
Radiograph - narrow upper mediastimun, inc
Echo
Rx: Maintain PDA w/ IV prostaglandins
Ballon catheter to connect atria
Sx to relocate arteries
181
Q

What is Eisenmenger syndrome?

A

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

182
Q

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

A

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

183
Q

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

A

Pulmonary stenosis

184
Q

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

A

Aortic stenosis

185
Q

Name some causes of heart failure in neonates and infants

A 
Cardiomegaly secondary to congenital defects
Valvular disease
Arrhythmias
Chronic lung disease
Anaemia
Hypertension
Hyperthyroidism
Medication - particularly chemotherapy
186
Q

What is growth faltering and how can it be identified?

A

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

187
Q

Name some causes of growth faltering

A

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

188
Q

Management of growth faltering?

A

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

189
Q

Causes of acute abdo pain?

A 
Appendicitis
Testicualr torsion/hernia (examine testes)
Peritonitis
UTI/pyelonephritis
Pancreatitis (check serum amylase)
190
Q

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

A

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

191
Q

Large mesenteric nodes found on laparotomy. Dx?

A

Mesenteric adenitis

192
Q

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?

A

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

193
Q

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

A

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

194
Q

Causes of vomiting?

A 
GORD
Pyloric stenosis
Allergy
Gastroenteritis
Appendicitis
Coeliac
Testicular torsion
DKA
195
Q

Infant has recurrent regurgitation of milk. Causes and management?

A

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

196
Q

Complications of GORD?

A

Faltering growth
Oesophagitis
Pneumonia from aspiration

197
Q

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?

A

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

198
Q

What pathogens may be responsible for gastro-enteritis?

A

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

199
Q

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

A

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

200
Q

Management of dehydration?

A

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

201
Q

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?

A

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

202
Q

Complications of non-gluten diet in coeliac?

A

Micronutirent deficiency, osteopenia, small bowel lymphoma

203
Q

What is constipation and what may cause it?

A

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

204
Q

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

A

Mouth ulcers, anterior uveitis

Steroids, immunosuppressants: azathioprine, methotrexate, infliximab

205
Q

Management of constipation?

A

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

206
Q

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

A

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

207
Q

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

A

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)

208
Q

Management of Hirschprung’s disease?

A

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

209
Q

Name some congenital kidney malformations

A

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

210
Q

Organisms responsible for UTI?

A

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

211
Q

What might predispose a child to a UTI?

A

Incomplete bladder emptying/voiding

Vesicouretic reflux - ureters displaced laterally and enter directly into bladder rather than at angle

212
Q

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

A

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

213
Q

Signs of nephrotic syndrome?

A

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

214
Q

Management of nephrotic syndrome?

A

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

215
Q

Complications of nephrotic syndrome?

A

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

216
Q

What is haematuria and what are some common causes?

A 
Blood in urine - >10RBC per high power field
Often glomerula haematuria - brown urine
Infection
Renal stones
Tumours
Glomerulonephritis
IgA nephropathy
217
Q

What is nephritis and what are some signs

A 
Inflammation of renal parenchyma - decreased glomerular blood flow with decreased GFR
Decreased output
HTN
Periorbital oedema
PROTEINURIA AND HAEMATURIA
218
Q

Name some causes and the management of acute nephritis

A 
Post-strep infection
HSP
IgA nephropathy
Vasculitis
SLE (low C3/C4)
Rx: Treat cause, water and electrolytes balance, diuetics
219
Q

Biomarker in IBD?

A

Faecal calprotectin

220
Q

Apart from trimethoprim, name 2 other antibiotics for UTI?

A

Nitrofurantoin

Co-amoxiclav

221
Q

What additional formula feeds would you give for faltering growth?

A

Additional polyunsaturated fats, nucleotides, pre/probiotics

222
Q

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

A

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

223
Q

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

A

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

224
Q

What are the diagnostic criteria for steroid sensitive nephrotic syndrome?

A

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

225
Q

Investigations for cause of nephrotic syndrome?

A 
Dipstick urine (protein)
FBC, ESR, U&amp;E, creatinine, albumin
C3/C4 
Antistreptolysin O
Urine MC&amp;S
Hep b/c screen
Malaria screen if been abroad
226
Q

Prognosis of nephrotic syndrome?

A

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

227
Q

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

A

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

228
Q

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?

A

Rubella (togavirus) - notify PHE

arthritis, deafness, encephalitis, eye/cardiac abnormalities (myocarditis) if in utero

229
Q

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

A

Erythema infectiosum

Human parvovirus B19

230
Q

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

A

Roseola infantum

HHV6/7

231
Q

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

A

Hand foot and mouth disease
Cocksackie A16 and enterovirus 71
High serum amylase

Mx: symptomatic - hydration and analgesia

232
Q

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

A

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

233
Q

Cause and Rx of impetigo?

A

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

234
Q

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

A

Steven-Johnsen syndrome - reaction to staph toxin

Rx: IV flucloxacillin, supportive, ITU, analgesia

235
Q

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

A

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

236
Q

Significance of delayed developmental milestones?

A

Underlying neurological disorder/LD

237
Q

Gross motor milestones?

A

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

238
Q

Vision and fine motor?

A

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

239
Q

Hearing, speech and language?

A

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

240
Q

Social behaviour?

A

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

241
Q

What is strabismus and what might cause it?

A

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)

242
Q

How might a squint/strabismus present?

A

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

243
Q

Ix of squint?

A

Corneal light reflex

Cover test

244
Q

Rx of squint?

A

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

245
Q

Why is treating squint important?

A

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

246
Q

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

A

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’

247
Q

Why is head circumference measured?

A

Reflection of brain size, development and possible syndromes

248
Q

Name some head abnormalities

A

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

249
Q

What systemic features may indicated a neurological condition?

A

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

250
Q

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

A

Williams - dx by FISH studies

251
Q

Aggressive behaviour but no dysmorphic features. What syndrome?

A

Smith-Magenis

252
Q

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

A

Angelman

253
Q

Seizures and microcephaly. What syndrome?

A

Rett

254
Q

Emotional output eg laughing leads to LOC. Dx?

A

Cataplexy

255
Q

Excessively sleepy. Dx?

A

Narcolepsy

256
Q

Random uncontrolled eye movements. Dx and significance?

A

Opsoclonus myoclonus syndrome. Can indicate a neuroblastoma.

257
Q

Name some movement disorders and their relevance in children

A

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

258
Q

What is a seizure?

A

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

259
Q

What is a convulsion and name different types

A

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

260
Q

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

A 
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

261
Q

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

A

Blue breath holding spell

262
Q

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

A

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

263
Q

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

A

Duchene’s muscular dystrophy

264
Q

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

A

Biliary atresia

Urgent kasai procedure

265
Q

Describe a generalized seizure

A

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

266
Q

Types of generalized seizures?

A

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

267
Q

Describe focal seizures and their types

A

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

268
Q

How is Epilepsy diagnosed

A

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

269
Q

How is epilepsy managed?

A

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

270
Q

SE of valproate?

A 
Valproate
Ataxia
Liver failure
Pancreatitis
Reversible hair loss
Oedema
Appetite increase (weight gain)
Teratogenicity
Encephalopathy
271
Q

SE of carbamazepine?

A

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

272
Q

SE of lamotrigine?

A

Insomnia, ataxia, rash, steven-johnson syndrome

273
Q

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?

A

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

274
Q

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

A

Lennox-Gastaut syndrome

Ketogenic diet may help

275
Q

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

A

Benign Rolandic epilepsy

276
Q

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

A

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

277
Q

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

A

Juvenille myoclonic epilepsy (Janz syndrome)

Rx: sodium valproate

278
Q

What advice would you give to parents with epileptic children?

A 
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
279
Q

What is cerebral palsy?

A

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

280
Q

Causes of cerebral palsy?

A

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

281
Q

Clinical features of CP?

A

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

282
Q

Describe levels 1-5 on the gross motor function classification

A

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

283
Q

What is spastic cerebral palsy and what causes it?

A

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

284
Q

Describe the different presentations of spastic cerebral palsy

A

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

285
Q

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

A

Dyskinetic cerebral palsy

6% of CP

286
Q

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

A

Ataxic cerebral palsy
4%
Injury to cerebellum and its connections

Can also have mixed

287
Q

Management of CP?

A

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

288
Q

Why might clinical signs change over time in CP?

A

Pathology follows corticospinal tract lesion

289
Q

Diagnosis of CP?

A

Clinical examination - posture tone, hand function, gait

290
Q

Investigation to confirm dx of CP?

A

Imaging eg CT/MRI may confirm lesion

291
Q

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

A 
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
292
Q

Prognosis of juvenile myoclonic epilepsy?

A

Response to treatment usually good but lifelong. Remission unlikely

293
Q

Prognosis of absence seizure?

A

Respond well to lamotrigine and remission unlikely

294
Q

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

A

Concomitant - magnitude is same regardless of gaze.

Non comitant - magnitude varies dependent on gaze

295
Q

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

A

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

296
Q

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

A 
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
297
Q

Dx of Down’s?

A

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

298
Q

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

A 
Trisomy 18
Low birthweight
Prominent occiput
Small mouth/chin (micrognathia), 
Flexed overlapping fingers 
Cardiac/renal malformations
Low set ears
Rocker bottom feet
299
Q

What is Patau’s syndrome, cause? Features?

A 
Trisomy 13
Structural brain defects
Microphthalmia/other eye defects (small eyes)
Cardiac/renal defects
Cleft lip/palate
Polydactyly
Scalp lesions
300
Q

What causes Turner syndrome. Name some features.

A

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

301
Q

Management of Turners syndrome

A

Growth hormone

Oestrogen to induce secondary sexual characteristics

302
Q

What is Klinefelter syndrome? Cause? Features?

A

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

303
Q

Name 4 mitochondrial disorders

A

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

304
Q

What is Prada-Willi syndrome? Cause? Features?

A 
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
305
Q

Cause of Angelman syndrome? Features?

A

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

306
Q

Child complications of maternal diabetes?

A

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

307
Q

Child complocations of maternal hyperthyroid?

A

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

308
Q

Child complications of congenital rubella?

A

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

309
Q

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

A 
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
310
Q

What is late onset neonatal infection. What might cause?

A

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

311
Q

Management of late onset infection?

A

Flucloxacillin and gentamicin

If resistant - vancomycin/meropenem

312
Q

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?

A

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

313
Q

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

A

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

314
Q

Long term complications of sepsis in neonate?

A

Retinal haemorrhage/detachment
Progressive hearing loss
Bronchopulmonary dysplasia
Cerebral palsy

315
Q

Ix for ?osteogenesis imperfecta

A

DNA test PCR saliva - mutations in COL1A1 and COL1A2

316
Q

Inheritance pattern of osteogenesis imperfecta

A

Autosomal dominant

317
Q

Agencies involved in numerous fractures that is queries OI?

A

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

318
Q

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?

A

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

319
Q

Describe the ideal environment to nurse a premature neonate

A

Avoid hypothermia - in incubator

Low humidity to avoid heat loss

320
Q

How might prematurity affect a babies lungs

A

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

321
Q

How might prematurity affect the nervous system?

A 
Not all synapses made
Brainstem not myelinated - causes apnoea of prematurity
Ventricular haemorrhages
Retinopathy of the newborn
Hearing problems
322
Q

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?

A 
Bronchopulmonary dysplasia
Remain on ventilation
If weaned - CPAP/high flow nasal canulla
Corticosteroids
Concerns: neurodevelopment/CP
Subsequent pertussis/RSV/rhinovirus infection
323
Q

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

A

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

324
Q

Age, HR, RR of infant

A

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

325
Q

Age, HR, RR of toddler?

A

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

326
Q

Age, HR, RR of preschool child?

A

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

327
Q

Age, HR, RR of child?

A

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

328
Q

Age, HR, RR of adolescent?

A

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

329
Q

What could count as child abuse?

A

Physical injury
Sexual abuse
Emotional abuse
Neglect

330
Q

Predisposing factors of child abuse?

A 
Lack of support
Parents abused themselves
Deprivation
Mental health issues
LD
Drugs and alcohol
Domestic violence
331
Q

How might a child present who is being abused?

A

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)

332
Q

What is neglect and what forms does it exist in?

A

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

333
Q

What forms might emotional abuse take?

A

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

334
Q

How should you examine a child ?abuse

A

Record explanations
Use body charts to document injuries
Photographs
Include genetalia

335
Q

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

A 
Medical assessment - FBC, swabs
Development assessment
Social services
Police
Case conference - multiagency
Register on list of children subject to child protection
Review
336
Q

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?

A 
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
337
Q

How should a self harming child be managed?

A

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)

338
Q

Tuberous sclerosis

A

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

339
Q

Describe the physical aspects of a newborn screen

A

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

340
Q

What is the Guthrie test?

A

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

341
Q

When might a newborn have anaemia at birth?

A

Haemolytic disease of newborn

Bleeding - umbilical cord, internal haemorrhage

342
Q

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

A

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

343
Q

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

A

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

344
Q

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

A

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

345
Q

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

A

Iron deficient anaemia - microcytic hypochromic

Oral iron 6mg/kg/day for 3-6 months (ferrous fumerate syrup)

346
Q

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

A

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

347
Q

What might predispose an aplastic crisis?

A

Parvovirus B19 infection

348
Q

How might haemolytic anaemia present?

A

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

349
Q

How might G6PD present?

A

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

350
Q

What is thalassaemia

A

Reduced globin chain synthesis

351
Q

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

A

Beta thalassaemia

Genetic counselling, blood trasnfusions, iron chelation, bone marrow transplantation

352
Q

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

A

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

353
Q

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?

A

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

354
Q

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

A

Von Willebrand disease - abnormality of vWF

Rx: transexamic acid, Factor VIII/vWF if severe

355
Q

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?

A

Heamphilia A or B - X-linked recessive

Rx: Factor VIII/XI

356
Q

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

A

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

357
Q

Child shows signs of sepsis. Immediate management?

A 
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
358
Q

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?

A

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

359
Q

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

A 
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
360
Q

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?

A

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

361
Q

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

A

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

362
Q

Definition of sepsis?

A

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

363
Q

Neurofibromatosis

A 
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

Phase 3a (8 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions