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Dan's Copy > Paeds Peer Teaching 1 > Flashcards

Paeds Peer Teaching 1 Flashcards

1
Q

A baby has congenital heart disease and is breathless. Which direction is the shunt in? Give 3 examples of conditions which give this picture.

A

L to R shunt

  • VSD
  • PDA
  • ASD
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2
Q

A baby has congenital heart disease and is cyanotic. Which direction is the shunt in? Give 2 examples of conditions which give this clinical picture.

A

R to L shunt

  • Tetralogy of Fallot
  • Transposition of the Great Arteries
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3
Q

A baby has a VSD (Ventricular Septal Defect).
Which direction is the shunt?

List 4 signs / symptoms.

A

L - R shunt

  • Tachycardia
  • Tachypnoea
  • FTT (Failure to thrive)
  • Heart failure
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4
Q

What kind of murmur would you hear if a baby has a VSD? Where would you hear it?
Which direction is the shunt?

A
  • Pansystolic murmur
  • L lower sternal edge
  • Shunt is L to R
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5
Q

What is the management of a VSD?

A

Small - will close spontaneously.

Large - surgical closure + diuretics

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6
Q

What signs and symptoms would you see in a child with ASD (Atrial Septal Defect)?
Which direction is the shunt?

A
  • May be asymptomatic
  • Tachypnoea
  • FTT
  • Wheeze

Shunt direction: L to R

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7
Q

What murmur will you hear (and where) if a child has an Atrial Septal Defect?
Which direction is the shunt?

A

Ejection systolic murmur (L upper sternal edge)

Shunt direction: L to R

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8
Q

What signs and symptoms would you see in a child with a PDA?
Which murmur would you hear and where?

A
  • Tachypnoea
  • FTT
  • Bounding pulse

Murmur: Continuous machinery murmur (below L clavicle)

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9
Q

What is your management of a patient with ASD (atrial septal defect)?

A

Small - close spontaneously

Large - Surgical closer

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10
Q

What is your management of a patient with a PDA?

A
  • NSAIDs (Indomethacin)
    or
  • Surgical ligation
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11
Q

What are the 4 components of Tetralogy of Fallot?

A
  • Pulmonary Stenosis
  • VSD
  • Overriding aorta
  • RVH
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12
Q

What signs and symptoms would you see in a child with Tetralogy of Fallot?

A
  • Severe cyanosis
  • Hypercyanotic spells on: exercise, crying, defecating
  • Ejection systolic murmur
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13
Q

What is your management of a child with Tetralogy of Fallot?
Which direction is the shunt?
Is this cyanotic or acyanotic?

A

Surgery at 6 months to close VSD, relieve pulmonary out tract obstruction

R to L

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14
Q

Describe the pathophysiology of Transposition of the Great Arteries.

A

Pulmonary artery and aorta ‘swap’.
RV > Aorta > Body > RA
LV > Pul artery > Lungs > LA

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15
Q

What are the signs and symptoms of Transposition of the Great Arteries?

A
  • Often present on day 2 of life (after Ductus arteriosus closes) with severe life threatening cyanosis.
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16
Q

What is your management of Transposition of the great arteries going to be?

A
  • Maintain PDA (prostaglandin infusion)

- Surgical: atrial sepstostomy and correction

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17
Q

A ‘well’ child has Pulmonary Stenosis.
What is the pathophysiology of this?
What signs and symptoms might you see?

A
  • Pulmonary valve leaflets partially fused together > obstructs RV outflow
  • Asymptomatic
  • Ejection systolic murmur (L upper sternal edge) and palpable thrill
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18
Q

A ‘well’ child has Aortic stenosis.
What is the pathophysiology of this?
What signs + symptoms might you see?
What murmur will you hear?

A
  • Aortic valve leaflets partially fused together > obstructs LV outflow
  • Reduced exercise tolerance, chest pain / syncope on exertion
  • Ejection systolic murmur (R. upper sternal edge) AND Carotid thrill
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19
Q

A ‘sick’ child has Coarctation of the Aorta. What is the pathophysiology behind this? Describe the symptoms.

A

Narrowing of the aorta - commonly at ductus arteriosus.

  • Symptoms become more severe with age.
  • Asymptomatic, then SOB, arterial hypertension, intermittent claudication.
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20
Q

What murmur will you hear if a patient has coarctation of the aorta?
Describe the patient’s pulse.

A
  • Ejection systolic murmur (L upper Sternal edge).

- Radial:radial / radial:femoral delay.

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21
Q

What is the management of a patient with Coarctation of the Aorta?

A
  • Stent

- Surgical repair

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22
Q

What are the 4 S’s of harmless murmurs?

A
  • Soft
  • Systolic
  • aSymptomatic
  • L Sternal edge
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23
Q

What investigations should you do if you detect a murmur?

A
  • Antenatal ECHO

- Neonatal ECHO, ECG, CXR

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24
Q

What syndrome arises if R to L shunt is not treated?

A

Eisenmenger’s syndrome.
- Long standing R to L shunt increases pulmonary pressure over time, leading to thickening of the pulmonary arteries. This causes RVH and increases pressure in RV, reversing the shunt to L to R.

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25
Q

What is another name for ‘Croup’?

A

Laryngotracheobronchitis

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26
Q

What is ‘croup’?

A

Upper airway obstruction caused by the Parainfluenza virus.

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27
Q

At what age are children most likely to get croup?

A

-6m - 6years.

Peak incidence = 2 years

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28
Q

What are the symptoms of Croup?

A
  • Seal-like, barking cough
  • Hoarseness
  • Breathlessness
  • Poor feeding
  • Preceded by a fever; worse at night.
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29
Q

What is the management of Croup?

A
  • Single dose Oral Dexamethasone 0.15mg/kg or Nebulised Budesonide
  • If severe:
    > High flow oxygen
    > Nebulised adrenaline
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30
Q

Describe Acute Epiglottitis.

A

LIFE THREATENING MEDICAL EMERGENCY

  • upper airway obstruction
  • intense swelling of epiglottis and surrounding tissue
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31
Q

What is the causative organism of Acute Epiglottitis?

A

Haemophilus Influenzae B

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32
Q

Describe the presentation of a child with acute epiglottitis.

A
  • sore throat in a septic-looking child
  • Child unable to speak or swallow (drooling)
  • Sitting upright, immobile with open mouth to optimise airway
  • Soft inspiratory stridor
  • Increased respiratory distress.
  • Little / no cough
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33
Q

Why has the incidence of acute epiglottis decreased in recent years?

A

Introduction of Hib vaccine

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34
Q

How should you manage a child with Acute Epiglottitis?

A
  • DO NOT EXAMINE THROAT IF SUSPECTED
  • call anaesthetics to intubate
  • IV cefuroxime
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35
Q

What is the causative organism of Whooping cough?

A

Bordatella Pertussis

  • highly infectious and contagious
  • epidemic every 3 - 4 years
  • intubation up to 10 - 14 days
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36
Q

What are the symptoms of Whooping cough?

A
  • Inspiratory whoop (forced inhalation against a closed glottis)
  • Spasms of cough -> worse at night, cause vomiting, epistaxis and subconjunctival haemorrhages.
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37
Q

How would you investigate Whooping cough?

A

Per Nasal Swab culture.

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38
Q

How would you manage a child with Whooping Cough?

A
  • <1 month: Azithromycin (5 days)
  • > 1 month: Azithromycin / Erythromycin (7 days)
  • School exclusion
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39
Q

What is the typical age range for children with Bronchiolitis?

A

1 - 9 months

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40
Q

Which pathogen causes Bronchiolitis?

A

Respiratory Syncytial Virus
also:
- Parainfluenza virus, human metapneumovirus

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41
Q

What are the symptoms of Bronchiolitis?

A
  • Coryzal
  • Breathlessness
  • Poor feeding
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42
Q

List 6 signs of respiratory distress seen in Bronchiolitis.

A
  • Nasal flaring
  • Head bobbing
  • Subcostal recessions
  • Intercostal recessions
  • Tracheal tug
  • Grunting
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43
Q

List some ‘other’ signs of Bronchiolitis.

A
  • Fine end inspiratory crackles
  • High pitched wheeze
  • Cyanosis on feeding
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44
Q

Investigations for Bronchiolitis?

A
  • PCR analysis of nasal secretions

- CXR: hyperinflation

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45
Q

Describe the management of a baby with Bronchiolitis

A
  • Supportive:
    > humidified oxygen
    > NG feeds
    > Fluids
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46
Q

When would Palivizumab be used in Bronchiolitis?

A
  • CF, Immunocompromised, Congenital Heart Disease, Down’s
  • > a monoclonal antibody
  • > IM once per month through autumn and winter
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47
Q

Describe the pathophysiology of Asthma.

A
  • Chronic inflammatory disorder of lower airways secondary to hypersensitivity
  • Reversible airway obstruction
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48
Q

What are the 3 cardinal features of Reversible airway obstruction in Asthma?

A
  • Bronchospasm
  • Mucosal swelling and inflammation
  • Increased mucous production -> mucous plug
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49
Q

List 7 clinical features of Asthma.

A
  • Intermittent dyspnoea
  • Sputum production
  • Wheeze
  • Cough (nocturnal)
  • Diurnal variation
  • Exercise tolerance
  • Disturbed sleep
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50
Q

How is asthma diagnosed?

A
  • Clinical symptoms
  • FEV1:FVC ratio < 70%
  • Bronchodilator reversibility: FEV1 improvement by 12% or more
  • FeNO >= 35ppb
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51
Q

A child under 5 years is having a ‘moderate’ asthma attack. What signs might you see?

A
  • Sats > 92%

- No clinical features

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52
Q

A child under 5 is having a ‘severe’ asthma attack. What signs might you see?

A
  • Sats <92%
  • Unable to talk
  • HR > 140
  • RR > 40
  • Use of accessory neck muscles
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53
Q

A child under 5 is having a ‘life threatening’ asthma attack. What signs might you see?

A
  • Sats <92%
  • Silent Chest
  • Bradycardia
  • Poor resp effort
  • Altered consciousness
  • Cyanosed
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54
Q

A child over 5 is having a ‘moderate’ asthma attack. What signs might you see?

A
  • Sats > 92%
  • PEF > 50% of best predicted
  • No clinical features
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55
Q

A child over 5 is having a ‘severe’ asthma attack. What signs might you see?

A
  • Sats < 92%
  • PEF <50%
  • Unable to complete sentences
  • HR > 125
  • RR > 30
  • Use of accessory neck muscles
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56
Q

A child over 5 is having a ‘life threatening’ asthma attack. What signs might you see?

A
  • Sats < 92%
  • PEF < 33%
  • Silent chest
  • Poor resp effort
  • Altered consciousness
  • Cyanosed
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57
Q

Describe the Acute management of an Asthma attack.

A
  • A to E assessment
  • High flow oxygen
  • Salbutamol news
  • IV hydrocortisone
  • Ipratropium Bromide news
  • Magnesium Sulphate IV + call ICU
  • Salbutamol IV
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58
Q

What should you look out for if you give Salbutamol IV?

What changes on an ECG would you see with this?

A
  • Hypokalaemia
  • ST segment sagging
  • T wave depression
  • U wave elevation
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59
Q

Describe the pathophysiology of Cystic Fibrosis.

A
  • Autosomal Recessive Defect in CFTR
  • codes cAMP regulated Chloride channels in cell membranes (Chromosome 7).
  • Commonest Autosomal Recessive disorder in caucasians -> 1 in 25 carriers
  • Causes increased viscosity of secretions and blockage of narrow passageways.
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60
Q

List 2 clinical features of Cystic Fibrosis.

A
  • Reduction in air surface liquid layer and impaired ciliary function. Retention of secretions
  • Pancreatic ducts blocked by thick secretions -> maldigestion, malabsorption, steatorrhoea
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61
Q

Which 2 pathogens are responsible for ‘Chronic Endobronchial infection’ seen in CF?

A
  • Pseudomonas

- Staph aureus

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62
Q

How do neonates with CF present?

A
  • Meconium ileus

> pancreatic ducts are blocked by thick secretions -> maldigestion, malabsorption, steatorrhoea

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63
Q

How might CF affect kids when they reach puberty?

A
  • Diabetes mellitus
  • Delayed puberty
  • Male infertility
  • Female subfertility
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64
Q

How is CF diagnosed?

A
  • Guthrie heel prick screening test (at 6-9 days of life)
  • Sweat test (Chloride ions)
  • Faecal elastase (low levels)
  • Gene abnormalities in CFTR protein
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65
Q

Describe the management of a patient with CF.

A
  • Aim to prevent progression of lung disease
  • Maintain adequate nutrition
  • High calorie, high fat diet
  • Chest physio and postural draining
  • Pancreatic enzyme replacement therapy
  • Prophylactic Abx
66
Q

Describe the presentation of a child with Pyloric Stenosis.

A

2 - 8 weeks of life

  • projectile vomiting (post feeds)
  • NOT bile stained (above ampulla of Vater).
67
Q

What is the pathophysiology behind pyloric stenosis?

A

Narrowing of the pylorus, impairing gastric emptying

68
Q

Describe the signs and symptoms seen in a baby with pyloric stenosis.

A
  • Weight loss, FTT, hungry after feeds
  • Visible gastric peristalsis
  • Palpable abdominal mass on feeding
69
Q

What investigations would you do if you suspected Pyloric stenosis?

A
  • USS abdo = diagnostic

- Hypokalaemic, hypochloraemic, metabolic alkalosis

70
Q

How would you manage a baby with pyloric stenosis?

A
  • Rehydration + correct electrolyte imbalance

- Surgical: Ramstedt’s pyloromyotomy

71
Q

What is ‘intussusception’?

A

Invagination of proximal bowel into a distal segment.

- commonly: ileum moves into caecum via ileo-caecal valve

72
Q

At what age does Intussusception tend to present?

A

3 months - 2 years

Boys > Girls

73
Q

List 5 clinical features of Intussusception.

A
  • Severe paroxysmal abdominal colic pain
  • Child draws knees up to chest, becomes pale, screaming in pain
  • Vomiting (may become bilious)
  • Blood and mucous in the stool -> REDCURRANT JELLY STOOL
  • RLQ abdo mass - sausage shaped
74
Q

What investigations should you do if you suspect intussusception?

A
  • USS abdo (diagnostic)
    > doughnut / target sign
  • Xray abdo: distended small bowel, absence of gas in the large bowel
75
Q

What is the management of Intussusception?

A

Rectal air insufflation

76
Q

Describe the pathophysiology of Intestinal Malrotation.

A
  • Surgical emergency
  • Obstruction of small bowel -> congenital anomaly of rotation of the midgut
  • > can lead to volvulus and infarction of entire midgut
77
Q

Describe the presentation of Intestinal Malrotation.

A
  • Bilious vomiting (below ampulla of Vater)
  • Abdo pain
  • Tenderness (peritonitis / ischaemic bowel)
78
Q

What investigations should you do if you suspect Intestinal Malrotation?

A
  • Upper GI contrast study (diagnostic)

- USS abdo

79
Q

What is the management of Intestinal Malrotation?

A
  • Surgical correction

- Ladd’s procedure -> rotates bowel anti-clockwise

80
Q

What is the pathophysiology behind Necrotising Enterocolitis?

A
  • Bacterial invasion of ischaemic bowel wall

- More common in babies fed with cow’s milk

81
Q

How does NEC present?

A
  • Bilious vomiting (below ampulla of Vater)
  • Abdo pain and distension
  • Fresh blood in stool
  • Infant may rapidly become shocked
82
Q

What investigations should you do if you suspect NEC?

A
  • If shocked: septic work up
  • Abdo xray:
    > distended loops of bowel
    > thickening of bowel wall with intramural gas
    > Rigler and Football sign
83
Q

What’s your management of NEC?

A

If shocked: A - E assessment

  • Stop oral feeds
  • Broad spectrum Abx
  • Surgery for any bowel perforation
84
Q

List 2 complications of NEC.

A
  • Bowel perforation

- Malabsorption if extensive ischaemia

85
Q

When is the football sign seen in children with NEC?

A
  • Seen with massive pneumoperitoneum

- in supine position, air collects anterior to abdominal viscera

86
Q

What is Hirschsprung’s disease?

A
  • Large bowel obstruction
  • Absence of ganglionic cells from myenteric plexus of large bowel.
  • results in a narrow, contracted segment of bowel.
  • Commonly: ileum moves into caecum via ileocaecal valve
87
Q

How does Hirschsprung’s disease present?

A
  • Failure to pass meconium within 48 hrs of life
  • Boys > > girls
  • Associated with Down’s syndrome
88
Q

List 3 clinical features of Hirschsprung’s disease

A
  • Abdo distension
  • Later: bile stained vomit
  • Can lead to Enterocolitis from C. diff infection
89
Q

What investigations should you order for Hirschsprung’s Disease?

A
  • Rectal examination: narrow segment. withdrawal causes flow of liquid stool and flatus
  • Suction rectal biopsy (diagnostic)
90
Q

What is the management for Hirschsprung’s disease?

A
  • Enema’s

- Surgical resection of affected colon.

91
Q

What causes jaundice?

A

Raised serum bilirubin -> leads to yellow skin and yellow sclera
-> due to increased RBC breakdown -> release of Haemoglobin

92
Q

Why is high unconjugated bilirubin bad?

A
  • Can be deposited in basal ganglia
  • Kernicterus
    -> encephalopathy with seizures and coma.
    Can cause choreoathetoid cerebral palsy.
93
Q

What are the causes of jaundice in the first 24 hours of life?

A
  • Haemolytic disorders -> Rhesus incompatibility, ABO incompatibility, G6PD deficiency, spherocytosis, Pyruvate kinase deficiency
  • Congenital infection -> Toxoplasmosis, CMV, Syphilis, Rubella, Herpes, Hepatitis
94
Q

What are the causes of jaundice from 24hrs - 2 weeks of life?

A
  • Physiological jaundice
  • Breast milk jaundice
  • Infection, haemolytic disorders, bruising, Crigler-Najjar syndrome.
95
Q

What are the causes of jaundice beyond 2 weeks of life?

A

SERIOUS

  • Hypothyroidism, pyloric stenosis
  • Conjugated: biliary atresia, neonatal hepatitis
96
Q

What investigations should you do for ?jaundice?

A
  • TORCH screening

- Coomb’s test

97
Q

Mx of jaundice?

A
  • Phototherapy (450nm, converts unconjugated bilirubin into harmless soluble pigment)
  • Exchange transfusion
98
Q

A child has bile stained vomit. Differentials?

A
  • Intestinal obstruction (distal to Ampulla of Vater)
  • malrotation
  • duodenal atresia
  • meconium ileus
  • NEC
99
Q

A child has haematemesis. Differentials?

A
  • Oesophagitis
  • Peptic ulderation
  • Oral / nasal bleeding
100
Q

A child has projectile vomiting in the first few weeks of life. Diagnosis?

A

Pyloric stenosis

101
Q

A child vomits at the end of paroxysmal coughing. Diagnosis?

A

Whooping cough.

102
Q

A child has tenderness/abdo pain on movement. Diagnosis?

A

Surgical abdomen

103
Q

A child has abdo distension. Differentials?

A
  • Intestinal obstruction (incl. strangulated inguinal hernia)
104
Q

A child has hepatosplenomegaly. Differentials?

A
  • Chronic liver disease
  • Neonatal hepatitis
  • Biliary atresia
  • Primary sclerosing cholangitis
105
Q

A child has blood in their stool. Differentials?

A
  • Intussusception

- Gastroenteritis (Salmonella / Campylobacter)

106
Q

A child is severely dehydrated and shocked. Differentials?

A
  • Severe gastroenteritis
  • Systemic infection (UTI, Meningitis)
  • DKA
107
Q

A child is classed as ‘Failure to Thrive’ (drops 2 deciles). Differentials?

A
  • GORD
  • Coeliac disease
  • Cow’s Milk Protein Allergy
  • Other chronic GI conditions.
108
Q

What triad of symptoms is seen in Nephrotic syndrome?

A
  • Hypoalbuminaemia <25g/l
  • Proteinuria: urine protein >1mg/m2/24hrs
  • Oedema: peripheral, scrotal/vulval, periorbital, ascites
109
Q

What are the common causes of Nephrotic syndrome?

A
  • Minimal change disease
  • Focal-segmental glomerulosclerosis
  • post streptococcal nephritis
110
Q

Treatment for steroid-sensitive Nephrotic syndrome.

A

Prednisolone oral 60mg/m2/day

111
Q

Treatment for steroid resistant nephrotic syndrome.

A
  • Diuretics, salt restriction, ACEi, NSAIDs

- Cyclophosphamide +/- cyclosporin

112
Q

3 things for Haemolytic uraemia syndrome?

A
  • Acute renal failure
  • Thrombocytopenia
  • Microangiopathic haemolytic anaemia
113
Q

Describe the course of Haemolytic Uraemia Syndrome.

A
  • follows prodrome of bloody diarrhoea (E. coli)
114
Q

Describe the signs & symptoms of HUS.

A
  • Abdo pain
  • Decrease urine output
  • Normocytic anaemia
115
Q

Investigations for HUS?

A
  • Fragmented blood film
  • Stool culture
  • FBC
116
Q

Treatment for HUS?

A
  • Supportive

- Plasma exchange if severe

117
Q

Complications of HUS?

A
  • HTN

- Chronic renal failure

118
Q

3 things for Henoch-Schonlein Purpura (HSP)?

A
  • Purpura (raised like sandpaper)
  • Arthritis
  • Abdo pain
119
Q

Describe the course of HSP?

A

Follows URTI - Strep pyogenes

120
Q

Signs and symptoms of HSP?

A
  • Rash on buttocks, extensor surfaces of limbs
  • Haematuria
  • Proteinuria
121
Q

Treatment for HSP?

A

Prednisolone (oral)

122
Q

What is HSP associated with?

A
  • Buerger’s / IgA nephropathy

episodes of macroscopic haematuria post URTI

123
Q

Characteristic features of a tonic clonic seizure?

A

Stiffen -> jerk + Loss of consciousness

124
Q

Characteristic features of an absence seizure?

A

Brief pause, eyes roll up, unaware

125
Q

Characteristic features of West Syndrome?

A
  • Head nodding
  • Arm jerk
  • EEG shows hypsarrhythmia
126
Q

Define status epilepticus.

A

Defined as >30mins tonic clonic, but treat at 5 mins.
Buccal midazolam OR
IV Lorazepam ->IV phenytoin -> Rapid Sequence induction

127
Q

What is a febrile convulsion?

A

Single, tonic clonic episode

  • Lasts less than 20mins
  • High fever
  • Treat if lasts longer than 5 mins.
128
Q

What organisms cause Meningitis?

A
  • Neiserria meningitidis (meningococcal disease)
  • H influenzae
  • S. pneumonia
  • E. coli (neonates)
  • Group B strep
  • Listeria monocytogenes
  • TB
129
Q

How might a child with meningitis present?

A
  • Signs of sepsis
  • Generally unwell
  • Poor feeding
  • Stiff neck
  • Seizures
  • Apnoea
  • Lethargy
  • Meningeal signs
  • Non-purpuric rash
130
Q

Investigations for meningitis?

A
  • Septic screen
  • Cultures
    +/- Lumbar Puncture
131
Q

When is a Lumbar Puncture contraindicated?

A
  • focal neurology
  • DIC
  • Purpura
  • Coning risk
132
Q

How is Meningitis treated?

A
  • Get urgent senior help
  • Admit child
  • Community: give IM BenPen
  • Hospital: IV Ceftriaxone
  • Prophylaxis: Rifampicin PO / Single dose IM Ceftriaxone
133
Q

What is the triad for Screening Criteria?

A
  • Identifiable when latent / early stage disease
  • Condition is treatable
  • Early identification = better prognosis
134
Q

What are the aims of screening?

A
  • Aims to identify unrecognised disease in apparently well people
  • Allocation of funding on cost-benefit basis
135
Q

What investigation is carried out to identify Sickle Cell Anaemia or Thalassaemia? (and when is it carried out?)

A

Maternal blood test

0 - 10 weeks

136
Q

The triple test screens for Trisomy. What does the Triple Test use as serum markers and when is this test carried out?

A
  • hCG
  • PAPP-A
  • USS nuchal translucency

Triple test: 11 - 13 weeks

137
Q

Which trisomy disorders is the triple test looking to identify?

A
  • Down’s (T21)
  • Patau’s (T13)
  • Edward’s (T18)
138
Q

The quadruple test screens for trisomy. What does the quadruple test use as serum markers and when is this carried out?

A
  • AFP
  • Estriol
  • hCG
  • Inhibin-A

Quadruple test: 15 - 20 weeks

139
Q

If the triple or quadruple test identifies a person with a higher risk of trisomy, what tests can be offered?

A

CVS

Amniocentesis

140
Q

What and when is the congenital anomaly screen?

A
  • A detailed US scan

- At 18 - 20 weeks

141
Q

What does the Congenital Anomaly Screen look for?

A
  • Neural tube defects
  • Major heart defects
  • Renal genesis
  • Skeletal / CNS abnormality.
142
Q

What 6 conditions does Guthrie’s test (heel prick) screen for?

A
  • Sickle cell disease
  • CF
  • Congenital Hypothyroidism
  • Phenylketonuria
  • MCAD
  • MSUD (maple syrup urine disease
143
Q

Tell me about CVS.

A
  • 11 - 13 weeks gestation
  • Placental biopsy of foetal cells
  • 2% risk of miscarriage
  • Detects chromosome disorders and inherited disorders
144
Q

Tell me about Amniocentesis.

A
  • 15 - 20 weeks gestation
  • Amniotic biopsy of foetal cells
  • 1% risk of miscarriage
  • Detects chromosome and sex determination
145
Q

2 conditions of the newborn identified by karyotyping.

A
  • Turner’s

- CAH

146
Q

Name a condition which is identified by specific gene testing.

A
  • Cystic Fibrosis

- > CFTR gene

147
Q

How might a child with Down’s syndrome present?

A
  • Intellectual disability
  • Stunted growth
  • Dysmorphia
148
Q

Signs of Down’s Syndrome?

A
  • Umbilical hernia
  • Hypotonia
  • Macroglossia
  • Epicanthic fold
  • Single palmar crease
  • Abnormal outer ears
  • Flattened nose
149
Q

Conditions which Down’s syndrome is associated with?

A
  • CHD
  • AVSD > VSD
  • Visual + hearing problems
  • Duodenal atresia
  • Haematological cancers
  • Early onset dementia
  • Thyroid disease
150
Q

Describe your management plan for a child with Down’s syndrome.

A
  • ECHO at birth
  • Regular hearing, visual, dental check ups
  • Educational and social support
  • Thyroid and Coeliac screening
151
Q

How does Patau’s syndrome arise?

A
  • Nondisjunction of chromosomes during meiosis
152
Q

List some signs + symptoms of Patau’s syndrome

A
  • Polydactyly
  • Midline defects (cleft lip / palate)
  • Heart defects (VSD, PDA)
  • Global developmental delay
153
Q

What is the prognosis for someone with Patau’s syndrome?

A
  • Many die in utero

- 80% of live births die within 1 year.

154
Q

What is Edward’s syndrome associated with?

A
  • IUGR

- Polyhydramnios

155
Q

Signs and symptoms of Edward’s syndrome?

A
  • Prominent occiput
  • Kidney malformation
  • Developmental delay
  • Midline defects (cleft lip / palate)
  • Heart defects (VSD / PDA)
156
Q

Prognosis for a kid with Edward’s syndrome?

A
  • Only 3% affected make it to live birth.

Median survival is 15 days.

157
Q

Tell me about Turner’s syndrome.

A

45 XO

  • Female with single deletion / partial copy of X chromosome in some or all cells.
  • > excellent prognosis for live births
158
Q

Signs / symptoms of Turner’s syndrome?

A
  • Short stature
  • Shield chest
  • Low set ears
  • Webbed neck
  • Micrognathia
  • Wide spaced nipples
159
Q

What is Turner’s syndrome associated with?

A
  • Amenorrhoea
  • Delayed puberty
  • Sterility
  • Coarctation of the Aorta
  • Bicuspid aortic valve
  • Obesity
  • Horse shoe kidney
  • Thyroid disorder
160
Q

Treatment for Turner’s syndrome?

A
  • Growth hormone
  • Oestrogen replacement (COCP)
  • Fertility

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