Paeds Flashcards
(458 cards)
1
Q
How do you estimate the weight of a child?
A
Weight (kg) = (Age in years + 4) x 2
2
Q
What are the two causes of dehydration?
A
- Reduced intake
2. Increased losses
3
Q
Give 4 causes of reduced intake (leading to dehydration):
A
- Dysphagia e.g. cerebral palsy, developmental delay
- Vomiting e.g. gastroenteritis, GORD
- Behavioural/Psych e.g. anorexia
- Social e.g. child neglect
4
Q
Give 4 causes of increased losses (leading to dehydration):
A
- Gut losses e.g. IBD, stoma
- Kidney losses e.g. Nephrogenic diabetes insipidus
- Skin e.g. burns, cystic fibrosis
- Lungs e.g. tracheostomy, cardioresp diseases
5
Q
Give 3 signs of moderate dehydration:
A
- Sunken eyes
- Reduced skin turgor
- Decreased urine output
6
Q
Give 3 signs of severe dehydration:
A
- Reduced consciousness
- Cold mottled peripheries
- Anuria
7
Q
Give 3 signs of mild dehydration:
A
- Thirst
- Dry lips
- Restless/irritable
8
Q
Give 2 consequences of chronic deprivation from fluids or feeds:
A
- Failure to thrive/malnutrition
- Developmental delay
- Constipation
- UTIs
9
Q
How do you work out maintenance fluids in children?
A
First 10kg = 100ml/kg daily
Next 10kg = 50ml/kg daily
Every other kg = 20ml/kg daily
10
Q
A 7 year old girl needs maintenance fluids, she weighs 26kg - calculate the volume and rate:
A
1st 10kg: 10 x 100 = 1000ml/day
2nd 10kg: 10 x 50 = 500ml/day
Last 6kg: 6 x 20 = 120ml/day
1000 + 500 + 120 = 1620ml/day
= 67.5 ml/hr
11
Q
What type of fluids do you give for maintenance in kids?
A
0.9% sodium chloride + 5% glucose
12
Q
What type of fluids do you give for deficit in kids?
A
0.9% sodium chloride + 5% glucose
13
Q
How do you work out the volume and rate needed for deficit fluids in kids?
A
Deficit (%) x 10 x weight (kg)
14
Q
What type of fluid do you give for a bolus in kids?
A
0.9% sodium chloride
15
Q
What volume of fluid do you give as a bolus? Are there any exceptions?
A
20 mls/kg UNLESS: - Trauma (too much fluid dislodges the clots the body is trying to form in response to blood loss) - DKA (risk of cerebral oedema) - Any other risk of cerebral oedema
16
Q
Give 4 things you must monitor in a child receiving IV fluids:
A
- Normal obs (RR, O2, HR, BP, Temp)
- Neurological status (signs of cerebral oedema)
- Fluid balance (input and output)
- U&E - at least every 24hrs
17
Q
What is the aim in giving a fluid bolus?
A
Restore bp and perfusion
18
Q
How do you give maintenance fluids to neonates? At what rate?
A
Increase fluids over four days: Day 1 = 60mls/kg Day 2 = 90mls/kg Day 3 = 120mls/kg Day 4 = 150mls/kg
19
Q
How much Na and K do neonates require per day?
A
Na: 2-3 mmol/kg/day
K: 1-2 mmol/kg/day
20
Q
What type of fluid is given to neonates for maintenance?
A
10% dextrose with personalised amounts of Na and K added
21
Q
Definition of a UTI:
A
10^5 organisms/ml grown on a culture of an appropriate sample
22
Q
What is acute cystitis?
A
A lower urinary tract infection
23
Q
What is acute pyelonephritis?
A
An upper urinary tract infection
24
Q
Give 3 long term complications of UTI in children:
A
- Kidney scarring
- HTN
- CKD
25
Give 3 long term complications of UTI in children:
1. Kidney scarring
2. HTN
3. CKD
26
What is the most common bug responsible for UTIs in kids?
E.coli
27
Which bug is more common in boys with UTI?
Proteus
28
Give a situation in which you would need to investigate a child with UTI further:
Atypical bug grown e.g. pseudomonas, klebsiella
29
Give 4 situations in which you would need to investigate a child with UTI further:
(i.e. for structural abnormalities, scarring, underlying pathology)
1. Atypical bug grown e.g. pseudomonas, klebsiella, anything not E.coli!
2. Failure to respond to suitable abx within 48hrs
3. Required IV abx
4. Raised creatinine
5. Poor urine flow
6. Recurrent UTI (2 or more with at least one including systemic signs, OR; three or more without systemic signs)
7. Abdo mass/bladder mass
30
How do you treat UTI in a child <3 months old?
Minimum 2 to 4 days IV abx
| Followed by oral abx
31
A child older than 3 months presents with a fever >38 degrees and loin pain. A diagnosis of UTI is reached - how long should you give abx for and by what route?
Systemically unwell +/- loin pain = likely UPPER UTI
Therefore, give: 7 to 10 days oral abx
OR: IV abx for 2-3 days, followed by oral abx for a total duration of 10 days
Abx = cefalexin or co-amox
Consider IV depending on clinical judgement, use a lower threshold for IV abx in younger children and those with significant risk factors or severely ill
32
How do the symptoms of an upper UTI differ from a lower UTI?
Upper: fever, vomiting, loin pain
Lower: dysuria, freq., mild abdo pain, enuresis
33
How should you treat a lower UTI in a child >3 months? (route and duration of abx)
Oral abx for 3 days.
Reassess in 24-48hrs.
Abx = trimethoprim or nitrofurantoin
34
Give 3 examples of abx you might use to treat UTI:
1. Trimethoprim
2. Cefalexin
3. Co-amoxiclav
4. Nitrofurantoin
35
Abx choice, route & duration for:
1. UTI in <3 months old
2. Upper UTI in >3 months old
3. Lower UTI in >3 months old
1. IV min. 2 to 4 days, followed by oral
2. Oral 7 to 10 days, OR IV 2 to 3 days followed by oral (cefalexin or co-amox)
3. Oral 3 days, reassess in 24-48hrs (trimethorpim or nitro or amox or cefalexin)
36
Name 3 further investigations you might do in a child with atypical UTI:
1. Micturating Cystourethrogram (MCUG)
2. DMSA scan
3. USS of urinary tract
37
What is an MCUG? What does it look for?
Micturating Cystourethrogram: Looks for vesicoureteral reflux using a dye inserted into the bladder to observe the direction and flow of urine
38
What is posterior urethral valve (PUV)?
A congenital malformation in which the urethra is obstructed by flaps of tissue.
Only in boys.
1 in every 8000 male births.
39
Why does PUV cause hydronephrosis?
The bladder pushes hard to get urine past the blockage, increasing the pressure and pushing urine back into the ureters and kidneys. This causes the kidneys and bladder to swell and leads to damage.
40
How is PUV diagnosed?
Routine USS during pregnancy or picked up after birth when investigating urinary symptoms
41
How is vesicoureteral reflux graded?
1 to 5, 5 being the worst, likely requiring surgical correction
42
Give 3 features of nephrotic syndrome:
1. Heavy proteinuria (frothy urine)
2. Hypoalbuminemia
3. Oedema
43
What is a common cause of nephrotic syndrome?
Minimal change disease
44
What is minimal change disease? How does it present?
Podocytes are the basic unit of the glomerulus. They have processes which act as a filter. In minimal change disease the podocyte processes are damaged, making the filter leaky, allowing through large protein molecules. This manifests as: nephrOtic syndrome.
45
Give 6 investigations needed in a child with suspected nephrotic syndrome and explain your choices:
1. Urine dipstick & analysis to check for protein and haematuria
2. FBC to check albumin level
3. MSU to rule out UTI
4. LFTs to exclude liver pathology
5. Bone profile (calcium, phosphate, alkaline phosphates)
6. U&Es
7. ESR, CRP, glucose, Igs, Hep B, Hep C, HIV
46
How do you measure proteinuria? What is normal?
Use a urine sample from first thing in the morning.
Normal = creatinine < 20mg/mmol
There is no level that = definitely nephrotic
47
What is a normal range for albumin levels?
Approx. 35-45 g/L
48
Why does the risk of thrombosis and infection increase in nephrotic syndrome?
Along with albumin loss, you also lose other proteins e.g. antibodies and clotting factors
49
How do you treat the first episode of steroid sensitive nephrotic syndrome?
- 60 mg/m² for four weeks
| - 40 mg/m² on alternate days for four more weeks
50
What further treatment can you offer a child who is having frequent relapses of steroid sensitive nephrotic syndrome?
Prophylactic steroids.
| Alternative immunosuppressants e.g. Levamisole
51
What are 3 key questions to ask the mum in a labour history to determine the risk of neonatal sepsis?
1. When did your water's break? How long was this before delivery? (prolonged rupture of membranes)
2. Did you have any fevers before, during or after labour?
3. Were you told you had/have group B strep? If yes, were you given abx? How long for?
52
What is primary urinary incontinence?
A child who has never been dry for more than 3 months
53
What is secondary urinary incontinence?
A child who was dry for a period of more than 3 months, but is now incontinent
54
How are day symptoms of urinary incontinence managed in children?
1. Behavioural advice
| 2. Oxybutynin & laxatives
55
How are night time symptoms of urinary incontinence managed in children?
1. Behavioural advice:
- Drink >6 cups of water/day
- Drink majority of fluids before 4pm
- Stop drinking an hour before bed
- Aim for 4-7 voids/day
2. Behaviour change devices e.g. 'wobble watch' alarm
3. Desmopressin:
- Last resort
- Taken an hour before bed
- Cannot drink at all for 8 hours following (risk of hyponatremia if they do drink)
56
Why might you do non-invasive bladder studies? What do they involve?
To investigate urinary incontinence.
The child is asked to drink a lot of fluid and then wait until they really need a wee. The volume of the bladder is then measured on USS before and after voiding. Pressure during voiding is also measured.
57
Why might you do non-invasive bladder studies? What do they involve?
To investigate urinary incontinence.
The child is asked to drink a lot of fluid and then wait until they really need a wee. The volume of the bladder is then measured on USS before and after voiding. Pressure during voiding is also measured.
58
Epidemiology of nephrotic syndrome:
1. More common in Asian families
| 2. Boys > Girls
59
3 key features of nephritic syndrome:
1. Coca cola coloured urine (haematuria)
2. Reduced urine output
3. Hypertension
(4. Oedema, less than in nephrotic)
60
Name a common cause of nephritic syndrome:
Acute Post-streptococcal Glomerulonephritis (PSGN)
61
Explain the pathophysiology of Acute PSGN:
Group A Beta-Haemolytic strep has a specific surface antigen and produces an enzyme (streptolysin) that can completely lyse red blood cells.
It initiates a type III hypersensitivity reaction in which immune complexes of antigens and antibodies are formed (IgM and IgG).
These are deposited in the glomerular basement membrane.
This initiates an inflammatory reaction in the glomerulus.
This damages the podocytes, causing them to allow through large molecules like RBCs and protein, as well as producing less urine.
Leads to: haematuria, (some) proteinuria and oliguria.
62
What results might you see in acute PSGN for the following tests:
1. FBC
2. U&Es
3. Immunoglobulins/Immunology
4. Urinalysis `
1. Mild normochromic, normocytic anaemia
2. Increased urea and creatinine
3. Anti-DNase B, low C3/C4
4. Haematuria (macroscopic), proteinuria
63
How do you manage acute PSGN? (3)
1. Supportive fluids:
- Measure input/output
- Restrict salt
- Diuretics?
- Correct electrolyte imbalances
2. Penicillin for strep (2 weeks)
3. Dialysis if needed (uncommon)
64
There are 3 types of AKI: pre-renal, renal, post-renal. Which type is acute PSGN?
Renal
65
What is wheeze?
An expiratory polyphonic sound due to turbulence through narrowed airways
66
What might a monophonic expiratory wheeze indicate?
A mass
67
What is stridor?
Turbulent airflow through a partially obstructed upper airway
Heard more on inspiration
Seen in croup and epiglottitis
68
What age group is croup typically seen in?
6 months to 2 years
69
How might croup present? (3)
1. Stridor
2. Worse at night
3. +/- Low grade fever
70
What is the most common cause of croup?
Parainfluenza virus accounts for 75% of all cases
71
How might acute epiglottitis present? (4)
1. High fever
2. Drooling
3. Tripod stance (neck strained upwards)
4. Soft stridor
5. Muffled voice
72
What is the most common cause of acute epiglottitis?
H.influenzae type B
73
Give 6 signs of respiratory distress:
1. Tachypnoea
2. Intercostal and sternal recession
3. Use of accessory muscles (head bobbing in infants)
4. Tripodding or anchoring
5. Nasal flaring
6. Inspiratory/expiratory noises e.g. stridor, wheeze, grunting
74
What is the first line treatment for croup?
Oral dexamethasone single dose 150 micrograms/kg
75
A child seen in A&E with croup begins to rapidly desaturate - what emergency medication should you give and what dose?
Nebulised adrenaline with an oxygen face mask 500 micrograms/kg
76
What risks should you be aware of when adrenaline begins to wear off in a child with respiratory distress?
```
Risk of:
1. Bronchospasm
2. Worsening resp distress
3. Tachycardia
Be prepared to intubate
```
77
What is bronchiolitis?
An acute viral infection of the lower respiratory tract with inflammation of the bronchioles
78
What is the most common cause of bronchiolitis?
Respiratory syncytial virus (RSV)
79
NICE criteria for suspecting bronchiolitis in children under 2 years old:
A 1 to 3 day history of coryzal symptoms followed by:
- Persistent cough *and*
- Tachypnoea and chest recession *or*
- Wheeze/crackles on chest auscultation
80
How do very young babies with bronchiolitis present?
With apnoea and no other signs
81
Typical features of bronchiolitis:
1. Persistent cough
2. Tachyponea
3. Increased WOB
4. Low grade fever (less than 39)
5. Coryza
82
In a child with suspected bronchiolitis, when might you worry about pneumonia?
If temperature is above 39 and there are persistent focal crackles on auscultation
83
What are the 3 main conditions to consider in a child presenting with stridor?
1. Croup
2. Epiglottitis
3. Tracheitis
84
How does bacterial tracheitis present?
1. Rapid onset
2. Fever >39
3. Cough
4. Hoarse voice
NB: Seen in 6 months to 14 years old, rare condition
85
How do you manage bronchiolitis? (primary and secondary care)
```
Primary care:
- Anti-pyretic
- Careful safety netting advice (e.g. virus is self-limiting, peaks at days 3-5, come back if needed)
Secondary care:
- Admit if hypoxic
- Viral throat swabs/NPA
- IV fluids
- NGT feeding
- Humidified oxygen
```
NB: Normally self-limiting condition
86
3 Biological risk factors for bronchiolitis in children:
1. Chronic lung disease (CF, chronic lung disease of prematurity)
2. Congenital heart disease
3. Immunocompromised
87
3 Environmental risk factors for bronchiolitis in children:
1. Older siblings
2. Nursery attendance
3. Passive smoking
88
What is an NPA? Why is it done in suspected bronchiolitis?
Nasopharyngeal aspiration is a rapid test of the causative virus
Determines whether to barrier nurse as RSV is very infective
89
How can bronchiolitis be prevented and in what group of patients would this be done?
Immunoprophylaxis with palivizumab
A monthly IM injection during winter months (Nov to March)
Given to those at high risk of severe RSV bronchiolitis:
- Very premature babies
- SCIS
- Heart disease
- Lung conditions e.g. cystic fibrosis
90
What is the Guthrie card?
Newborn heel-prick test done at five days old
91
What does the Guthrie card screen for?
1. Cystic fibrosis
2. Congenital hypothyroidism
3. Sickle-cell disease
4. 6 rare inherited metabolic diseases including:
- Maple syrup urine disease
- Phenylketonuria (PKU)
92
If a child has a positive result for cystic fibrosis on their Guthrie card, how do you confirm the diagnosis?
1. Test for the CFTR gene, then;
2. A positive sweat test >60mmol/L and one of:
- Typical COPD
- Exocrine pancreatic insufficiency
- Positive family hx (often a sibling)
93
What is the pattern of inheritance for cystic fibrosis?
Autosomal recessive
94
What is the most common mutation seen in cystic fibrosis?
CF is caused by a mutation in the CFTR gene on chromosome 7
The most common mutation is DF508.
This is a class II mutation which results in incorrect folding.
95
What do CFTR proteins do?
They are ion channels that regulate the movement of chloride ions across epithelial membranes
96
What does CFTR stand for?
Cystic fibrosis transmembrane conductance regulators
97
How do faulty CFTR proteins result in the symptoms of cystic fibrosis?
Decreased secretion of Cl- and increased resorption of Na+
Results in reduced epithelial lining fluid and reduced hydration of mucus
Mucus is stickier to bacter promoting infection
Increased viscosity of secretions from the resp tract, pancreas, GI tract and sweat glands
98
How does CF present perinatally?
1. Picked up on screening
2. Bowel obstruction with meconium ileus
3. Rectal prolapse
4. Haemorrhagic disease of the newborn
5. Prolonged jaundice
99
What is haemorrhagic disease of the newborn? Why does it occur in babies with CF?
A rare form of bleeding disorder due to low stored of vitamin K at birth. Typically presented with intracranial haemorrhage.
Babies with CF are at risk of developing deficiencies in fat soluble vitamins due to pancreatic insufficiency.
100
Give 5 ways in which CF presents during infancy/childhood:
1. Acute pancreatitis
2. Failure to thrive
3. Portal hypertension and variceal haemorrhage
4. Sinusitis and nasal polyps
5. Pseudo-bartter's syndrome
101
Give 2 ways in which CF might present during adolescence/adulthood:
1. Male infertility with congenital bilateral absence of the vas deferens
2. Osteoporosis/malacia (due to malabsorption of calcium)
102
Describe the journey of blood from the placenta in fetal circulation:
1. Oxygenated blood leaves the placenta
2. Enters the umbilical vein
3. a) 70-80% goes into the portal vein, then through the liver, then into the hepatic vein, then into the IVC
b) 20-30% into the ductus venosus and then into the IVC
5. From the IVC to the right atrium
6.
a) Some blood goes from the RA through the foramen ovale to left atrium, then from the LA to the aorta
OR;
b) Some blood goes into the right ventricle then to the pulmonary artery via the ductus arteriosus to the aorta
7. From the aorta blood is carried around the body and to the internal iliac arteries
8. From the internal iliac arteries blood goes to the umbilical arteries
10. Then back again to the placenta
103
What triggers the closing of the ductus arteriosus after birth?
A reduction in circulating prostaglandins
104
What is an ostium secundum?
An atrial septal defect in the middle of the septum
| Allows blood to shunt from the left atrium into the right
105
What is an ostium primum?
An atrial septal defect at the bottom of the septum, close to the mitral and aortic valve
Also associated with interventricular septal defects
106
What is a sinus venosus ASD?
A very rare and difficult to detect ASD at the very top of the atrial septum
107
What might an ASD sound like on auscultation?
A systolic murmur in the pulmonary area
| Fixed and widely split second heart sound
108
What might an ASD sound like on auscultation?
An ejection systolic murmur in the pulmonary area (caused by increased flow across the pulmonary valve)
Fixed and widely split second heart sound (caused by a delay in the pulmonary valve closing)
May radiate to the back
109
What is a 'split s2' heart sound?
A normal S2 heart sound is the aortic and pulmonary heart valves closing simultaneously
Any pathology that causes these closures to be out of sync will cause a "split" S2 sound
For example, in an ASD the closure of the pulmonary valve is delayed, splitting S2
110
What is a 'split s2' heart sound?
A normal S2 heart sound is the aortic and pulmonary heart valves closing simultaneously
Any pathology that causes these closures to be out of sync will cause a "split" S2 sound
For example, in an ASD the closure of the pulmonary valve is delayed, splitting S2
111
How does an ASD present? (3)
Asymptomatic when younger
Older children and adults get signs/symptoms due to chronic volume overflow dilating the atria e.g. murmur & palpitations
Stretching of the RA can lead to RBBB
112
What is a restrictive VSD?
A small ventricular septal defect
Causes few signs and symptoms but carries a risk of infection (infective endocarditis)
113
What murmur does a VSD cause?
Harsh loud pansystolic murmur, loudest at the lower left sternal edge
Transmits to the upper sternal edge and axillae
114
How might a child with a VSD present? (2 symptoms & 5 signs)
1. Poor feeding
2. Failure to thrive
1. Tachypnoea
2. Hepatomegaly
3. Oedema
5. Harsh pansystolic murmur at lower left sternal edge
115
What type of heart murmur is often associated with trisomy 21?
AVSD
116
What murmur will you hear with a PDA?
Continuous machinary murmur in the pulmonary area
117
What vessels does the ductus arteriosus connect?
Pulmonary artery and aorta
118
2 symptoms and 3 signs seen in a baby with a PDA:
1. Poor feeding
2. Failure to thrive
1. Tachyponea
2. Continuous machinery murmur in pulmonary area
3. Hepatomegaly
4. Oedema
5. Easily palpable femoral pulses
NB: Often preterm babies
119
How do you manage a left to right shunt in a newborn? (5)
1. Increase calorie intake to compensate for catabolic state, probably through an NG feed
2. Diuretics for oedema/HF (furosemide)
4. ACE inhibitor (captopril - reduces afterload)
5. Surgical or catheter device occulusion
120
What is coarctation of the aorta?
Narrowing of the aorta, causing reduced/no blood flow to the lower limbs
Baby depends on keeping their ductus arteriosus open to survive
121
3 signs of coarctation of the aorta in a newborn:
1. Weak femoral pulses (always compare to brachial)
2. Discrepancy between upper and lower limb BP
3. Pre and post ductual difference in saturations (if ductus arteriosus is open)
NB: There will be a murmur over the back once colaterals have developed in older children
NB: If the ductus arteriosus has closed/is closing before collaterals have developed, the baby will present collapsed and acidotic
122
What type of murmur does aortic stenosis cause?
Ejection systolic murmur in the aortic region
123
What type of mumur does pulmonary stenosis cause?
Eejction systolic murmur in the left upper sternal edge
Radiates to the back, especially if pulmonary branches are also stenosed
124
What is transposition of the great arteries?
Pulmonary artery and aorta are attached in the wrong places
Circulation is in parallel, oxygenated blood in the lungs, de-oxygenated blood in the body
Survival is aided by the foramen ovale
125
How do you manage transposition of the great arteries? (2)
Initial temporary management = atrial septostomy at birth to make the foramen ovale even larger and promote mixing of blood
Surgical repair within a week to prevent RV failure
126
What are the four features of tetralogy of fallot?
1. Infundibular thickening - narrowing of the pulmonary artery
2. Ventricular septal defect
3. Overriding aorta
4. Right ventricular hypertrophy
127
What causes a hypercyanotic spell in tetralogy of fallot?
As the pulmonary artery narrows blood flow to the lungs decreases and deoxygenated blood goes via the septal defect into the body via the aorta
128
What syndrome should you rule out in a child with tetraology of fallot? How?
Check for 2q deletion, associated with digeorge syndrome
129
When does pyloric stenosis typically present?
In the second to fourth weeks after birth
130
How does pyloric stenosis typically present in newborns? (4)
1. Projectile vomiting, typically 30 minutes after a feed
2. Constipation, dehydration, weight loss, persistent hunger
3. Palpable 'olive' mass in the right upper quadrant or epigastrum
4. Hypercholraemic, hypokalaemic alkalosis due to persistent vomiting
131
What electrolyte abnormality is commonly associated with pyloric stenosis in newborns?
Hypochloremic hypokalaemic metabolic alkalosis
Explanation: Persistent vomiting causes progressive loss of fluids which contain hydrochloric acid, in turn this causes the kidneys to retain hydrogen ions in favour of potassium. There may be no electrolyte abnormalities if the duration of the illness is short.
132
Risk factors for pyloric stenosis in newborns: (3)
1. M>F (4 times more common in M)
2. Positive family Hx
3. First born
133
Give 4 differential diagnoses to consider when thinking of pyloric stenosis:
1. Feeding problem or milk intolerance
2. GORD
3. Gastroenteritis
4. Other bowel obstruction e.g. duodenal atresia, osophageal atresia
5. Intestinal malrotation/acute midgut volvulus
134
What surgery is done to manage pyloric stenosis?
Ramstedt's pyloromyotomy
135
What is pyloric stenosis?
Thickening of the muscle of the pylorus makes the passage between the stomach and small bowel (duodenum) narrower.
136
What is a congenital diaphragmatic hernia?
Severity ranges from thinning of an area of the diaphragm to complete absence of the diaphragm.
CDH may allow the stomach and intestines to move through an opening (hernia) into the chest cavity, crowding the lungs.
137
How does a congenital diaphragmatic hernia present in a newborn? (4 signs)
1. Scaphoid abdomen (caved in)
2. Respiratory distress (dysponea & tachyponea)
3. Heart sounds louder on the right side
4. Tinkling bowel sounds
138
What organism is responsible for causing scarlet fever?
Group A haemolytic streptococci
139
What would you see on an ECG of a child with a large VSD?
Right ventricular hypertrophy
140
What investigations would you order when diagnosing a large VSD?
1. ECG = RVH
2. CXR = signs of HF
3. Echo (gold standard diagnostic test, with doppler to show direction of flow, exact size and location)
4. Septic screen
5. Pre and post-ductal stats
141
What is hypoplastic left heart syndrome?
A congenital heart condition where the left ventricle does not develop properly and so is much smaller than usual. The mitral valve is often closed or very small. The aorta is also small than usual.
142
What is Hirshsprung disease?
A condition in which nerve cells are missing at the end of a child's bowel. Stool moves normally through the bowel until it reaches the area lacking nerve cells, at this point it moves slowly or stops and can lead to severe constipation or intestinal obstruction.
143
Neonatal signs/symptoms of Hirschsprung's: (3)
1. Abdominal distension
2. Failure to pass meconium in first 48 hours of life
3. Repeated vomiting
144
3 signs/symptoms of Hirschsprung's in older infants & children:
1. Chronic constipation resistant to usual treatments
2. Early satiety
3. Abdo discomfort and distension
4. Poor nutrition and poor weight gain
145
Give 3 investigations necessary when diagnosing Hirschsprung's disease:
1. Plain abdo XR - may show obstruction and dilated lower bowel
2. Anorectal manometry (measures pressures of anal sphincter muscles, sensation and neural reflexes)
3. Rectal biopsy - histology for definitive diagnosis
146
How do you manage Hirschsprung's disease acutely and surgically? (4)
1. Treat any obstruction/constipation - rehydration, NG feeding, enemas
2. Treat any enterocolitis - broad spectrum abx
3. Surgical Swenson's procedure: removes the aganglionic segment of bowel and creates an end-to-end anastomosis
4. Other colo-anal anastomosis procedure
147
What is the first line treatment for constipation in children?
Movicol
148
Give 4 differential diagnoses for vomiting in a newborn:
1. Gastroenteritis
2. Pyloric stenosis
3. Malrotation +/- volvulus
4. TEF (types B/D/H)
5. Necrotizing enterocolitis
6. Milk protein intolerance
149
What is a TOF?
Tracheoesophageal fistula - a birth defect that can cause liquid to pass through an abnormal connection between the oesophagus and trachea
150
How might TEF present postnatally? (4 signs/symptoms)
1. Choking/Feeding difficulties
2. Respiratory distress
3. Vomiting
4. Unable to pass an NG tube
5. Overflow of saliva and aspiration
151
What is an H-type TEF?
A connection between the oesophagus and trachea with NO oesophageal atresia (i.e. the oesophagus is completely functional and normal other than the extra connection)
152
What is NEC?
Necrotising Enterocolitis - a GI emergency in neonates that involves a combination of vascular, mucosal, toxic and other insults to the intestine, aetiology unknown
153
Croup is most often diagnosed clinically, however, if a CXR is done - what classic sign might be seen?
Steeple sign - tapering of the upper trachea
154
Give a syndrome that ADHD is commonly associated:
Fragile X syndrome
155
Give 4 conditions commonly associated with Down's Syndrome:
1. Hypothyroidism (also hyperthyroidism but hypo is much more common)
2. Type 1 diabetes
3. ToF
4. Hirschsprungs disease
156
A health visitor finds abnormal hearing in a baby's 'Newborn Hearing Screening Programme' check - what test should they be offered next?
Auditory Brainstem Response test as a newborn/infant
157
In suspected meningitis in an <3 month old, what abx should you give as well as IV cefotaxime? And why?
IV amoxicillin to cover for listeria
158
What is transient tachypnoea of the newborn (TTN)?
A delay in the resorption of fluid in the lungs after birth.
More common following c-section and is the most common cause of resp distress in newborns.
159
How do you treat transient tachypnoea of the newborn (TTN)?
Observe and give supportive care if necessary
Oxygen may be needed to maintain saturations
Should self-resolve in 48 hours following delivery
160
What immunisations are given at 2 months? (3)
1. 6 in 1 vaccine (diptheria, tetanus, whooping cough, polio, Hib, hep B)
2. Oral rotavirus vaccine
3. Men B
161
What immunisations are given at 3 months? (3)
1. 6 in 1 vaccine (diptheria, tetanus, whooping cough, polio, Hib, hep B)
2. Oral rotavirus vaccine
3. PCV
162
What immunisations are given at 4 months? (2)
1. 6 in 1 vaccine (diptheria, tetanus, whooping cough, polio, Hib, hep B)
2. Men B
163
What immunisations are given at 12-13 months? (4)
1. Hib/Men C
2. MMR
3. PCV
4. Men B
164
What immunisations are given at 3 to 4 years just before school starts? (2)
1. 4 in 1 pre-school booster (diptheria, tetanus, whooping cough, polio)
2. MMR
165
What immunisation is given at 12-13 years? (1)
1. HPV
166
What immunisations are given at 13-18 years? (2)
1. 3 in 1 teenage booster (tetanus, diptheria, polio)
| 2. Men ACWY
167
What triad is associated with shaken baby syndrome?
1. Retinal haemorrhages
2. Subdural haematoma
3. Encephalopathy
168
If jaundice develops within the first 24 hours of life, is this physiological or pathological?
Always pathological
169
Give 4 possible causes of jaundice in the first 24 hours after birth:
1. rhesus haemolytic disease
2. ABO haemolytic disease
3. hereditary spherocytosis
4. glucose-6-phosphodehydrogenase
170
During what time period might physiological jaundice develop?
2 to 14 days after birth
NB: more commonly seen in breastfed babies
171
What does a prolonged jaundice screen include? (6)
1. Conjugated and unconjugated bilirubin
2. Direct antiglobin test (Coomb's test)
3. TFTs
4. FBC and blood film
5. Urine MC&S
6. U&Es & LFTs
172
Give 4 possible causes of prolonged jaundice:
- Biliary atresia
- Hypothyroidism
- Galactosaemia
- UTI
- Breast milk jaundice
- Prematurity
- Congenital infections (CMV, toxoplasmosis)
173
What is William's syndrome?
An inherited neurodevelopmental disorder caused by a microdeletion on chromosome 7
174
Give 4 features associated with William's syndrome:
1. Elfin-like face
2. Sociable and friendly affect
3. Short stature
4. Learning difficulties
5. transient neonatal hypercalcaemia
6. Supravalvular aortic stenosis
175
Give 4 investigations needed in diagnosing leukaemia and what results you might see:
1. FBC = anaemia, thrombocytopenia, neutropenia
2. Blood film = blast cells
2. Bone marrow aspiration and biopsy
3. CXR = medial stinum widening
4. Lumbar puncture
5. Uric acid
176
What is neutropenia?
Abnormally low levels of neutrophils
177
What is thrombocytopenia?
Abnormally low platelets
178
What might medial stinum widening on a CXR indicate in a child presenting with bruising and frequent infections?
A mediastinal mass indicative of acute lymphoblastic leukaemia
A mediastinal mass is found at the time of diagnosis in 10% to 15% of children with ALL
179
Give 5 signs/symptoms of ALL:
1. Bruising/petechiae
2. Fever
3. Fatigue
4. Frequent infections
5. Anaemia
6. Organomegaly (liver or spleen)
7. Lymphadenopathy
8. Bone or joint pain
180
How are boys and girls with ALL treated differently?
Boys receive treatment for longer due to a higher chance of relapse
181
Give two groups of children who have an increased incidence of leukaemia:
1. Down's syndrome
2. Faconi's anaemia
3. Ataxia-telangiectasia
4. Bloom's syndrome
182
Management of ALL: (2)
1. High intensity chemotherapy via a central venous catheter (e.g. Hickman line) for 2 to 3 years
2. Haemopoietic stem cell transplant in relapsed patients or high risk patients in first remission
183
What is the 'double hit' theory of cancer?
Cancer results from an interaction between environment and genetic susceptibility
184
Give 3 life-threatening complications associated with ALL:
1. Sepsis with DIC (due to neutropenia)
2. Haemorrhage/stroke/bleeding (due to thrombocytopenia)
3. AKI (due to hyperuricaemia)
4. Hyperkalaemia and hyperphosphataemia (due to blast cell lysis)
185
Give 4 situations in which you should biopsy lymphadenopathy:
1. Any child with a node >1cm
2. An enlarging node without clear infective cause
3. Any associateed red flags e.g. fever, weight loss, hepato/splenomegaly
4. Unusual site e.g. supraclavicular
5. Persistently enlarged node
186
What is a neuroblastoma?
A rare cancer that usually affected children <5 years old, starting in the abdomen
Arises from the developing sympathetic nervous system, most commonly originates in the adrenal or paraspinal sites
187
How is GORD different to normal reflux?
Normal reflux = occurs <5% of the time in any 24hr period, mostly occuring postprandially
GORD = persistent, more frequent, gives rise to other symptoms and complications
188
4 risk factors for GORD in children:
1. Premature birth
2. Parental hx of heartburn or acid regurgitation
3. Hiatus hernia
4. Hx of congenital diaphragmatic hernia or oesophageal atresia (since repaired)
189
Give 4 symptoms of GORD in children:
1. Recurrent regurgitation or vomiting
2. Pain: epigastric, retrosternal or hearburn
3. Witnessed choking
4. Feeding problems
5. Failure to thrive
6. Resp problems (cough, apnoea, wheeze)
190
A child is brought to clinic with what seems to be recurrent reflux. Parents have noticed frequent vomiting and feeding problems. Give 4 red flag symptoms that suggest you should consider a diagnosis other than GORD:
1. Bile-stained green or yellow vomit = ?intestinal obstruction
2. Persistent forceful vomiting in a <2 mo old = ?pyloric stenosis
3. Bulging fontanelle = ?meningitis
4. Abdominal tenderness or distension = ?surgical issue
5. Failure to thrive
& many more
191
Give 3 investigations for severe GORD:
1. pH study (24hr ambulatory, will show frequent dips in pH <4)
2. Barium swallow/meal to exclude anatomical oesophageal abnormalities
3. Endoscopy
192
How do you manage GORD? (advice, medication & possible surgery)
```
Advise on:
- Feeding position
- Thickness of feeds
- Type of feed
Medication:
- Anacid
- H2 blocker
- PPI
Surgery:
- Fundoplication
```
193
What components of cow's milk can cause allergy in children:
Casein (76-86%)
| Whey (14-24%)
194
Which children are at a greater risk of having CMPA?
Those with other atopic conditions (asthma, hayfever)
Those with a close family member who has atopy
195
Allergic reactions can be IgE mediated or non-IgE mediated - which type is CMPA?
Either!
196
IgE mediated allergies:
Trigger histamine release
Occur within two hours of exposure
Skin reactions: itching, erythema, urticaria, acute angio-odema of the face
197
Non-IgE mediated allergies:
Reaction occurs hours to days after exposure
Skin reactions: eczema, itching, erythema
Lower resp reaction: cough, wheeze
Abdo reaction: colic pain, reflux, constipation, diarrhoea
198
How do you diagnose CMPA?
Elimination diet and watch effects
199
How do you treat constipation in children? (Disimpaction, maintenance & behaviour advice)
Disimpaction:
- First line = osmotic laxative e.g. movicol, gradually increase dose if ineffective
- Second line = stimulant laxative e.g sodium picosulfate, senna
- Third line = enema, manual evacuation etc.
Maintenance therapy:
- Increase fluid and fibre intake
- Regular osmotic laxative
- Avoid prolonged use of stimulant laxative (causes atonic colon and hypokalaemia)
Behaviour advice:
- Encourage regular unhurried toileting
- Reward system
- Use bowel charts/diary
200
3 possible complications of long term constipation:
1. Acquired megacolon
2. Anal fissures
3. Overflow incontinence
4. Behavioural problems
201
What is docusate? When do you prescribe it? Name another similar drug:
A stool softener used to manage constipation.
Might be given alongside a laxative to make passing stool less painful.
Lactulose - another stool softner
202
3 symptoms/signs of appendicits:
1. Early periumbilical pain that moves to the RIF
2. Nausea
3. Vomiting
4. Anorexia
5. Low grade fever
203
What is Rovsing's sign?
Palpation of the lower left quadrant increases pain felt in the lower right quadrant.
Sign of appendicitis.
204
5 investigations used in appendicitis:
1. Urinalysis to exclude UTI
2. Pregnancy test to exclude ectopic pregnancy
3. Bloods: FBC & CRP
4. CT or USS
5. Laproscopy is diagnostic
205
Management of appendicitis: (4)
1. Analgesics
2. IV fluids
3. Pre-op abx
4. Appendectomy
206
Give four differential diagnoses for wheeze in a child:
1. Asthma
2. Bronchiolitis
3. Viral induced wheeze
4. Pneumonia
207
What is the most common causative organism for pneumonia in children?
Streptococcus pneumonia
208
How do you manage suspected chronic asthma in an under 5 year old? (3 steps)
Climb the steps until asthma is well managed:
1. Short acting beta agonist - salbutamol (reliever)
2. Add a low dose corticosteroid inhaler (preventer)
3. Add a leukotriene receptor antagonist - oral montelukast
209
What type of drug is monteleukast?
A leukotriene receptor antagonist (LTRA)
210
How do you manage chronic asthma in 5 to 12 year olds? (6 steps)
Climb the steps until asthma is well managed:
1. SABA prn - salbutamol
2. Low dose corticosteroid inhaler
3. Add a LTRA inhaler
4. Add a LABA
5. Titrate up ICS
6. Titrate up corticosteroid to high dose
211
What is salmeterol?
A LABA inhaler
212
Name 3 side effects of salbutamol:
1. Tachycardia
2. Hypokalaemia
3. Tremor
213
How do you manage an acute asthma attack? (8)
```
O - oxygen
S - salbutmaol
H - hydrocortisone/prednisolone
I - ipratroprium bromide
T - theophylline
M - magnesium sulphate
E - escalate
```
(O SHIT ME)
214
How might you treat viral induced wheeze? (3)
1. Supplementary oxygen
2. Salbutamol
3. Inhaled corticosteroids
4. Monteleukast
NB: Most hospitals have a VIW pathway that they follow in A&E etc. If admitted the child might be given 1/2/4 hourly salbutamol nebs and then 'stretched' until well enough to manage without
215
What organism causes whooping cough?
Bordetella Pertussis
216
How does whooping cough present? (6)
1. Violent coughing that can lead to vomiting
2. Gasping for breath, may stop breathing and turn blue
3. Inspiratory 'whoop' noise
4. Worse at night
5. Coryzal
6. Unvaccinated!
217
How do you investigate whooping cough? (2)
1. Oral fluid testing for anti-pertussis toxin immunoglobulin G (results reported to PHE)
2. Nasopharyngeal swabs and culture
218
How do you treat whooping cough?
Oral abx (consider IV if clinically deteriorating)
<1 month = clarithromycin
>1 month & non-pregnant women = azithromycin
Pregnant women = erythromycin
Prophylactic abx for close contacts and priority groups
219
Give two complications of whooping cough:
1. Bronchiecstasis
| 2. Pneumonthorax
220
Medical/pharmacological treatments used for cystic fibrosis (4):
1. CREON pancreatic enzyme tablets & high calorie diet
2. Bronchodilators e.g. salbutamol inhaler
3. Nebulised DNase - breaks down resp secretions to make them less viscous
4. Nebulised hypertonic saline
Other treatments for further complications e.g. diabetes
221
Other than medications, what support might a patient with cystic fibrosis need? (3)
1. Chest physio
2. Fertility treatment in males
3. Genetic counseling
222
What is Kawasaki disease?
A self-limiting idiopathic vasculitis of medium sized vessels affecting children aged 6 months to 5 years
Predominantly affects children of Asian origin
223
Common features of Kawasaki disease: (6)
1. Fever lasting >5 days (over 39)
2. Cervical lymphadenopathy
3. Inflammation of lips, mouth and/or tongue (strawberry tongue!!)
4. Rash (over the trunk)
5. Desquamation (peeling skin) of palms and soles of feet
6. Bilateral red eyes (conjunctivitis)
224
How do you treat Kawasaki disease? (3)
1. Aspirin (NB: watch out for reye's syndrome)
2. IV immunoglobulin
3. Echo to check for coronary aneurysm
Child will need regular follow up to check CVS health depending on severity of disease
225
What is the most common type of congential diaphragmatic hernia?
Bochdalek's hernia (85% of cases):
A left sided posterio-lateral hernia that allows, small and large bowel and intra-abdominal organs into the thoracic cavity
226
What is an exomphalos?
A congenital defect where the contents of the abdomen herniate into the umbilical cord through the umbilical ring. The contents is covered by a thin membrane (peritoneum + amnion).
227
What is a gastroschisis?
A congenital defect where abdominal contents herniates through the abdominal wall. There is NO covering membrane over the contents.
228
What is the most common viral cause of gastroenteritis?
Rotavirus
229
What are the most common bacterial causes of gastroenteritis?
Campylobacter jejuni
E.coli
Salmonella
Shigella
230
How do you manage gastroenteritis? (3)
1. Oral rehydration solution (ORS) 50ml/kg over four hours
2. Continue feeding, NG tube if necessary
3. Consider hospitalisation if shocked, not tolerating ORS or clinically detriorating
231
Common symptoms of intussusception (5):
1. Sudden colicky pain
2. Drawing up legs
3. Sausage shaped mass in abdomen
4. Vomiting
5. "red current jelly" stools
232
What is the classic USS sign for intussusception?
The doughnut/target/bull's eye sign: concentric bands in a circle
233
How is intussusception treated? (4)
1. IV fluids
2. NG tube
3. Pneumatic reduction enema
4. Laparotomy (if necessary)
234
What is coeliac disease?
An autoimmune condition caused by an inflammatory response to gliadin (a protein found in gluten, gluten is ound in wheat, barley and rye)
235
Which genes are associated with coeliac disease?
HLA-DQ2 (90%)
| HLA-DQ8
236
5 common symptoms of coeliac disease:
1. Unintentional weight loss
2. Fatigue
3. Chronic diarrhoea
4. Flactulence
5. Severe recurrent abdominal pain
6. Pale stools
237
Histological features of coeliac disease: (3)
1. Flattened villi
2. Lymphocyte infiltration
3. Crypt hyperplasia
238
What antibodies do you check for in suspected coeliac disease?
Total IgA
tTG
EMA
239
Which regions of the gut are involved in Crohn's disease?
Mouth to anus
240
Which regions of the gut are involved in uclerative colitis?
Just the large intestine/colon
241
Which IBD is spreads continuously throughout the bowel and which instead has skip lesions?
Skip lesions = Crohn's
| Continuous = UC
242
Histological features of UC: (3)
1. Mucosal ulceration
2. Mucosal and submucosal inflammation
3. No ganulomas
Continuous!
243
Histological features of Crohn's: (4)
1. Cobblestone mucosa
2. Strictures
3. Non-caseating granuloma
4. Transmural inflammation
Not continuous = skip lesions!
244
How do you treat Crohn's? (induction of remission & maintenance)
Induction of remission:
1st line = 6 to 8 weeks of liquid feed, then gradually reintroduce food
2nd line = glucocorticosteroids
Maintenance of remission:
Azathioprine
245
How do you treat UC? (induction of remission and maintenance)
Induction of remission:
1st line = Mesalazine
Maintenance:
Aminosalicylates (mesalazine)
246
Which IBD is more likely to cause toxic megacolon? How do you treat toxic megacolon?
Ulcerative colitis
1. IV fluids
2. Glucocorticosteroids
3. Surgery
247
What is Toddler's diarrhoea?
Chronic non-specific diarrhoea in a child who is otherwise well, growing normally, playing normally and not systemically unwell
There is no underlying pathology or intestinal disease
248
How do you treat Toddler's diarrhoea?
1. Reassurance that it'll resolve on its own
2. The four F's:
Fat - Preschool children need a diet of about 35-40% fat
Fluid and Fruit juice - Encourage drinking water and not too much juice (too sugary)
Fibre - not too much or too litte
249
Give 5 possible causes of jaundice that develops after 14 days:
1. Biliary atresia
2. Hypothyroidism
3. Galactosamia
4. UTI
5. Gilbert Syndrome
250
What is biliary atresia?
A condition of uncertain causes where part or all of the extrahepatic bile ducts are obliterated by inflammation and subsequent fibrosis. Leads to biliary obstruction and jaundice.
251
How does biliary atresia present? (4)
Shortly after birth (2 days):
1. Jaundice
2. Pale stools
3. Dark urine
4. Failure to thrive
252
Give two groups who are at an increased risk of biliary atresia:
1. Down's syndrome
| 2. CFC1 mutation (causes congenital heart defects)
253
What type of bilirubin builds up in biliary atresia?
Conjugated bilirubin
254
What is unconjugated bilirubin?
A fat soluble form of bilirubin that is formed during the breakdown of haem.
It travels in the blood bound to albumin (AKA indirect bilirubin).
NB: Haem is found in Hb (RBCs), myoglobin and cytochromes.
255
How does unconjugated bilirubin become conjugated bilirubin?
Converted in the liver under the action of uridine glucouronyl transferase
256
What role does the gut play in the excretion of conjugated bilirubin?
Conjugated bilirubin is excreted into the gut in bile.
Gut bacteria acts on conjugated bilirubin to make urobilinogen.
Urobilinogen is excreted in one of three ways:
- In faeces (stercobilin)
- In urine (urobilin)
- Into enterohepatic circulation
257
You suspect pathological jaundice in a newborn - what investigations might you do and why? (7)
1. FBC - for anaemia and haemolysis
2. Blood film - for G6PD and spherocytosis
3. Serum bilirubin - to confirm pathological level
4. Blood type of mother and baby for rhesus disease or ABO haemolytic disease
5. Direct coombs test - for haemolysis
6. TFTs for hypothyroidism
7. LFTs for hepatitis
258
What is the inheritance pattern of hereditary spherocytosis?
Autosomal Dominant
NB: More common in northern Europe
259
What is Coomb's test?
Looks for antibody-mediated haemolysis e.g. Rh or ABO incompatability
260
Explain the pathogenesis of rhesus haemolytic disease:
Mum is rhesus negative (e.g. A-).
Baby is rhesus positive (e.g. O+).
Mum's blood comes into contact with Baby's e.g. antepartum haemorrhage, miscarriage after 12 weeks, abdominal trauma, childbirth = sensitising event
Mum produces anti-D antibodies.
Mum's next baby is then exposed to Mum's anti-D antibodies as they cross the placenta barrier.
261
How do you treat hereditary spherocytosis? (4)
1. Splenectomy
2. Cholecystectomy (due to gallstones)
3. Life long penicillin prophylaxis
4. Folate supplements
262
What would an FBC and blood film show in a newborn with hereditary spherocytosis?
Increased MCHC
Increased reticulocytes
Sphere-shaped RBCs on film
263
What is the inheritance pattern for G6PD?
X-linked recessive
NB: this is the most common RBC defect
264
What is the inheritance pattern for G6PD?
X-linked recessive
NB: this is the most common RBC defect
265
Name 5 triggers for haemolytic crisis in a child with G6PD:
1. Certain drugs: primaquine, methylene blue, nitrofurantoin, EMLA cream, sulfonamides
2. Certain foods: BROAD BEANS
3. Severe infection
4. DKA
5. AKI
266
How does G6PD present? (3)
Baby picks up an infection or is exposed to some other trigger of haemolytic crisis. Resulting in:
1. Jaundice
2. Splenomegaly
3. Gall stones
267
What would you seen on a blood film in a baby with G6PD?
Heinz bodies
| spots of denatured haemoglobin within RBCs
268
What is the definitive test for G6PD?
G6PD enzyme assay
269
How do you manage stable G6PD? (3)
1. Avoid triggers
2. Folate supplementation
3. ?splenectomy
270
How do you manage stable G6PD? (3)
1. Avoid triggers
2. Folate supplementation
3. ?splenectomy
271
How does neonatal hepatitis present? (6)
1. Jaundice
2. Failure to thrive
3. Itchy rash
4. Dark urine
5. Hepatomegaly
6. Intrauterine growth restriction
272
What will a liver biopsy show in neonatal hepatitis? (2)
1. Multi-nucleated giant cells
| 2. Rosette formation (cluster of cells around a central cell, looks like a flower)
273
Which type of bilirubin is raised in neonatal hepatitis?
Both: unconjugated and conjugated bilirubin are raised
NB: You also get derranged LFTs
274
What is Crigler-Najjar syndrome?
A syndrome comprised of two rare autosomal recessive disorders that cause an inborn error of bilirubin metabolism.
275
Which type of bilirubin builds up in Crigler Najjar?
Unconjugated hyperbilirubinaemia
276
How does Crigler Najjar present if untreated?
1. Kernicterus
2. Hypotonia
3. Deafness
4. Oculomotor palsies
5. Death by age of 2
277
What is Gilbert's syndrome?
| inheritance pattern & pathogenesis
An autosomal recessive condition in which there is defective bilirubin conjugation due to a deficiency in UDP glucuronsyltransferase
278
Which type of bilirubin builds up in Gilbert's syndrome?
Unconjugated hyperbilirubinaemia
279
How does Gilbert's syndrome present?
Jaundice brought on by intercurrent illness, exercise or fasting
(other triggers include alcohol, dehydration, lack of sleep, surgery, chemo, antiretrovirals)
280
How do you manage Gilberts syndrome?
No treatment necessary, just avoid triggers
281
When and why are anti-D injections given to mother's during pregnancy?
Given at:
1. 28 weeks gestation
2. At birth
3. After any sensitisation event
Anti-D injections destroy any rhesus positive blood cells (from the baby) in the mother's circulation before her body has time to mount an immune response and build up lots of anti-D antibodies (that could later cause haemolysis in the baby).
282
What test can be used to assess how much fetal blood has mixed with maternal blood?
Kleihauer's test
283
How might congenital hypothyroidism present in a newborn? (3)
Most babies appear normal at birth due to maternal thyroid hormones that are still present. In the days following birth signs of hypothyroidism may present:
1. Prolonged neonatal jaundice
2. Hypotonia
3. Large tongue
284
What are the leading causes of congential hypothyroidism in the UK and worldwide?
```
UK = thyroid dysgenesis
Worldwide = Maternal iodine deficiency
```
285
What is the most likely cause of congenital hypothyroidism in a consanguineous pedigree?
Dyshormogenesis (an inborn error in thyroid hormone synthesis, caused by autosomal recessive inheritance)
286
Give 5 signs/symptoms of congenital hypothyroidism:
1. Delayed puberty
2. Delayed development milestones
3. Puffy face
4. Macroglossia
5. Short stature
6. Low temperature
7. Hoarse voice
8. Cardiomegaly
9. Bradycardia
10. Hypertelorism (abnormally increased distance between eyes)
11. Narrow palpebral fissures (narrow opening of eyes)
Untreated = cretinism
287
5 features of cretinism:
1. Short stature
2. Macroglossia
3. Delayed puberty
4. Learning difficulties, poor coordination, slow reflexes
5. Thick skin, hair loss
6. Umbilical hernia
288
What investigations should done for suspected congenital hypothyroidism? What would the results show? (3)
1. TFTs = high TSH, low T4
2. Measure thryoid antibodies
3. Thyroid USS
289
How do you treat congenital hypothyroidism? (3)
1. Oral levothyroxine (titrate to correct dose)
2. Regular TFTs
3. Track growth, milestones and mental development
NB: treatment must start within 3 to 4 weeks of life or else permanent cognitive impairment will occur
290
What is galactosaemia?
A deficiency in galactose-1-phosphate uridyltransferase (GALT) which is involved in the metabolism of galactose
291
How might galactosaemia present in a newborn? (3)
1. Cataracts
2. Jaundice & hepatomegaly
3. Sepsis (often with E.coli)
292
How do you treat galactosaemia? (2)
1. Treat acute presentation (i.e. abx for sepsis etc.)
| 2. Start dairy-free diet (Mum must also be dairy free if continuing to breast feed)
293
What is kernicterus?
A life-threatening condition in which bilirubin levels are very high (>360μmol/L).
Unconjugated bilirubin crosses the BBB and collects in the basal ganglia and brainstem.
294
4 signs of kernicterus:
Brain damage due to excessive bilirubin levels, causes:
1. Poor feeding
2. Floppy/lethargic baby
3. Convusliosn
4. Cerebral palsy
5. Deafness
295
What is the diagnostic investigations for NEC? What will the results show?
Abdominal XR might show:
- dilated bowel loops
- bowel wall oedema
- intramural gas
- air both inside and outside of the bowel wall (Rigler sign)
- air outling the falciform ligament (football sign)
- portal venous gas
296
How do you treat a PDA in a neonate?
Give indomethacin or ibuprofen. Inhibits prostaglandin synthesis and closes the connection in the majority of cases.
297
What is the APGAR score used for?
A quick test performed at 1 and 5 minutes after birth. Assesses:
A - Pink all over, no cyanosis = 2 points
P - Pulse rate over 100 = 2 points
G - Grimace = 1 point
A - Activity, flexed arms and legs = 2 points
R - Respiration, slow irregular cry = 1 point
A score >7 is accepted as normal
298
Give 4 risk factors for meconium aspiration at birth:
1. Post term delivery
2. Maternal hypertension
3. Pre-eclampsia
4. Chorioamnionitis
5. Maternal smoking or substance abuse
299
How do you treat a baby with acute respiratory distress due to a congenital diaphragmatic hernia?
1. Insert an NG tube (with the aim of keeping air out of the gut)
2. Intubate & ventilate
3. Surgical repair of hernia ASAP
300
What is the pattern of inheritance for Wilson's disease?
Autosomal recessive disorder on chromosome 13
301
Pathogenesis of Wilson's disease:
Reduced synthesis of caeruloplasmin which normally binds to copper and allows it to be excreted with bile
302
4 key signs/symptoms of Wilson's disease:
1. Kayser-Fleischer rings
2. Parkinsonism/psychosis
3. Vitamin D resistant rickets
4. Jaundice
Copper accumulates in the liver, kidneys, eyes and brain.
303
How do you investigate Wilson's disease? (2)
1. 24hr urine copper assay (raised)
| 2. Decreased serum caeruloplasmin
304
How do you manage Wilson's disease?
1. Penicillamine (forms soluble complexes with metals and is excreted in urine)
2. Zinc (prevents absorption of copper)
305
What are the TORCH infections?
A group of congenitally acquired infections that cause significant morbidity and mortality:
TO - toxoplasmosis
R - Rubella
C - CMV
H - Herpes simplex
306
How does congenital toxoplasmosis infection present in neonates? (2)
1. Hydrocephalus/Microencephalus
| 2. Cerebral palsy
307
How does congenital rubella present in neonates? (4)
1. Sensorineural deafness
2. Congenital cataracts
3. Glaucoma
4. PDA
5. Cerebral palsy
308
How does congenital CMV present in neonates? (4)
1. Sensorineural deafness
2. Growth retardation
3. Jaundice
4. Cerebral palsy
5. Pupuric skin lesions
309
How does congenital herpes simplex infection present in neonates? (2)
1. Limb hypoplasia (underdeveloped limbs)
| 2. Cortical atrophy
310
How do you treat congenital HSV infection in neonates? (1)
Give the baby varicella zoster immunoglobulin IgG
311
Name four conditions tested for using the Guthrie card/Heel prick test:
1. Congenital hypothyroidism
2. Cystic fibrosis
3. Sickle cell disease
4. Phenylketonuria
5. MCADD
6. Maple syrup urine disease (MSUD)
7. Isovaleric acidaemia (IVA)
8. Glutaric aciduria type 1 (GA 1)
9. Homocystinuria (HCU)
312
7 steps of neonatal life support:
1. Are they unresponsive?
2. Shout for help
3. Open airway
4. Look, listen, feel for breathing
5. Give 5 rescue breaths (head in neutral position, cover move and nasal apertures)
6. Check for signs of circulation (brachial and femoral pulses)
7. 15 chest compressions:2 rescue breaths (use tips of two fingers)
NB: Remember to DRY the baby first
313
Aetiology of infant respiratory distress syndrome:
Inadequate production of lung surfactant causes air sacs to collapse on expiration and greatly increases the energy required for breathing
Occurs predominantly in premature babies
314
Give 3 risk factors for respiratory distress syndrome:
1. Premature delivery
2. Male
3. Hypothermia
4. Maternal diabetes
5. Family hx of resp distres syndrome
315
What signs will you see on a CXR of a baby with respiratory distress syndrome? (3)
1. Ground glass appearance
2. Indistinct heart border
3. Air bronchograms
316
Management of respiratory distress syndrome:
1. Mother is given dexamethasone prior to accelerate fetal surfactant production if baby is likely to be delivered early
2. Exogenous surfactant via endotracheal tube
3. Oxygen
317
What might you see on a CXR of a baby who has meconium aspiration syndrome? (3)
1. Patchy infiltrates
2. Atelectasis
3. Coarse streaking of both lungs
318
How do you manage meconium aspiration syndrome? (2)
1. Suctioning
| 2. Oxygen or ventilation
319
What organism is most commonly responsible for neonatal sepsis?
Group B strep
320
Give 3 maternal risk factors for neonatal sepsis:
1. Fever
2. Prolonged rupture of membranes
3. Group B strep infection
4. Chorioamionitis
5. Premature delivery
321
4 key signs/symptoms of neonatal sepsis:
Variety of non-specific signs!
1. Fever
2. Reduced tone/activity
3. Poor feeding
4. Respiratory distress/apnoea
5. Vomiting
6. Tachycardia/Bradycardia
7. Hypoglycaemia
322
How do you treat neonatal sepsis (group B strep)?
1. Benzylpenicillin and gentamicin
2. Consider a cefalosporin (cefotaxime)
3. Blood cultures, CRP, LP
323
What is bronchopulmonary dysplasia?
AKA chronic lung disease of prematurity
A chronic lung disease that most commonly occurs in premature infants who need mechanical ventilation and oxygen therapy for infant RDS
324
What is the most typical/common presentation of bronchopulmonary dysplasia?
A 23 to 26 weeks of gestation baby who over a period of 4-10 weeks progresses from needing ventilation to CPAP to supplemental oxygen.
28 days after delivery the baby still needs oxygen.
325
What is the pathophysiology of bronchopulmonary dysplasia? (4)
1. Reduced lung volumes
2. Fibrosis
3. Scaring
4. Reduced alveolar surface area
= A diffusion defect
326
How do you manage bronchopulmonary dysplasia? (3)
1. CPAP
2. Prophylactic steroids for pregnant women at risk of premature labour
3. Caffeine
NB: Be careful not to over oxygenate!! High O2 concentrations can damage the eyes and lungs
327
3 ways in which caffeine helps premature babies:
1. Increases respiratory drive
2. Decreases apnoea
3. Improves diaphragmatic contractility
328
Give 4 causes of hypoxic ischaemic encephalopathy:
Anything that leads to asphyxia at birth e.g.:
1. Maternal shock
2. Intrapartum haemorrhage
3. Prolapsed cord
4. Nuchal cord (cord around baby's neck)
329
What staging system is used to assess hypoxic ischaemic encephalopathy?
Sarnat stafing (mild, moderate, severe)
330
Two complications of hypoxic ischaemic encephalopathy (one short term, one long term):
1. Short term: seizures
| 2. Long term: cerebral palsy
331
How do you manage hypoxic ischaemic encephalopathy?
Therapeutic hypothermia - cooling blankets and/or cooling hat
332
What does the HSP rash look like and where is it commonly found?
```
Purpuric rash
Commonly on the:
- Back of legs
- Buttocks
- Ulnar side of arms
```
333
What three symptoms are typically seen in HSP?
1. Palpable purpuric rash
2. Joint pain
3. Abdominal pain/GI symptoms
334
What is HSP? What is it triggered by?
An IgA mediated small vessel vasculitis
Triggered by airway infection (e.g. tonsillitis) or gastroenteritis
335
How do you treat HSP? Name 3 possible complications
Self limiting but watch out for complications:
1. Intussusception
2. Renal failure
3. Arthritis
336
What bug causes meningococcal septicaemia?
Neisseria meningitidis
| gram negative dipplococcus
337
What two investigations must be done BEFORE starting abx for suspected meningococcal septicaemia?
Blood culture & lumbar puncture
Send bloods for PCR
338
Pharmacological management of meningococcal septicaemia:
Urgent IM benzylpenicillin in the community (at GP)
If <3 months: cefotaxime + amoxicillin
If >3 months: ceftriaxone or cefotaxime
Give dexamethasone to reduce chance of hearing loss and neuro damage
339
You see a 7 year old girl in A&E with suspected meningococcal sepsis, her parents are worried that the rest of the family will catch the same infection, should they be offered prophylactic treatment?
Close contacts might need prophylactic treatment with ciprofloxacin or rifampicin. Inform PHE.
340
What are the most common organisms that cause bacterial meningitis in:
<3 month old infants
>3 month old infants
<3 months = Group B strep, E.coli
>3 months = Neisseria meningitis, strep. pneumoniae
341
What would an LP show in a child with meningococcal sepsis?
Raise WCC (neutrophils)
Raised protein
Low glucose
Cloudy colour
342
How does the CSF differ in viral versus bacterial meningitis? (protein, glucose, WCC, colour)
```
Viral:
Normal/high protein
Normal glucose
Raised WWC (LYMPHOCYTES)
Clear colour
```
```
Bacterial:
High protein
Low glucose
Raised WCC (NEUTROPHILS)
Cloudy colour
```
343
What does the chicken pox rash (varicella zoster) look like?
Crops of vesicles mostly on the head, neck and trunk
Very itchy
Pass through stages: papule, vesicle, pustule and then crust
Once the vesicles have crusted over they are no longer infectious
344
What is the incubation period for chicken pox?
Up to 21 days
345
How does chicken pox typically present?
1. Fever
2. Headache
3. Malaise
4. Itchy vesicular rash that eventually crusts over
346
How do you treat chicken pox?
Calamine lotion
If immunocompromised give varicella zoster immunoglobulin (VZIG)
NB: Do NOT use NSAIDs, increases the risk of secondary bacterial infection
347
What does a shingles rash look like?
Painful blistering rash
Rash is unilateral - will NOT cross the midline
Typically in an abdominal dermatome e.g. T12
348
What is a Toddler's fracture? How does it present?
A subtle non-displaced spiral fracture of the tibia
Caused by a sudden twist of the leg whilst walking/falling/running
Presents with vague symptoms including a refusal to weight-bear and irritability
349
What is transient synovitis/irritable hip? What age group does it commonly affect?
Acute onset hip pain, usually unilateral
| Most common in children aged 3 to 10 years
350
Presentation of transient synovitis: (3)
1. Refusal to walk/walking with a limp
2. No pain at rest
3. Pain on passive movement at the extremes of ROM
351
How do you treat transient synovitis?
1. Rest
2. Physiotherapy
3. NSAIDs can reduce symptoms
Usually resolves within TWO weeks
352
What criteria are used to distinguish between transient synovitis/irritable hip and septic arthritis?
Kocher's criteria:
1. Fever >38.5
2. Cannot weight bear
3. ESR >40 in the first hour
4. WCC >12
353
What is Kocher's criteria?
Differential diagnostic criteria for septic arthritis (as opposed to irritable hip):
1. Fever >38.5
2. Cannot weight bear
3. ESR >40 in the first hour
4. WCC >12
354
What is Perthe's disease?
A self-limiting hip disorder caused by varying degrees of ischaemia and subsequent necrosis of the femoral head
Most commonly affects boys aged 5 to 10 years
Most commonly unilateral
355
Which joints are most commonly affected in septic arthritis? (5)
1. Hip
2. Knee
3. Ankle
4. Shoulder
5. Elbow
356
How might a child with septic arthritis of the hip joint present? (3)
1. Very systemically unwell (fever >38.5)
2. Pain at rest
3. Hip kept flexed, abducted and externally rotated
Will resist attempts to move hip
357
Give 4 risk factors associated with Perthe's disease:
1. Low birth weight
2. Short stature
3. Low SES
4. Passive smoking
358
When examining a child with a limp, what is the 'roll test' and what will it test for?
When the patient is lying supine, roll the hip of the affected limb into external and internal rotation
In Perthe's disease this should invole guarding or spasm, especially with internal rotation
359
How does a slipped capital femoral epiphysis present?
1. Prepubescent male who is very tall and thin, or very short and obese (12-15 years)
2. Hip, thigh and knee pain
3. Several week hx of vague groin/thigh pain
4. Leg shortening
360
How do you investigate and treat a slipped capital femoral epiphysis?
XR: Shows widening and irregularity of the plate of the femoral epiphysis
Tx: urgent surgical pinning of the hip
361
Give 4 risk factors associated with developmental dysplasia of the hip:
1. Female
2. Breech delivery
3. C-section
4. 1st child
5. Prematurity
6. Oligohydraminos
7. Family hx
8. Club feet, spina bifida, infantile scoliosis
362
How do you check for developmental dysplasia of the hip during examination?
Barlow's test:
- Assesses if the hip is dislocatable
Ortolani's test:
- Assesses whether the hip is dislocate
363
Other than a positive ortolani or barlow's test, what signs might you see when examining for developmental hip dysplasia? (2)
1. Unequal leg length
| 2. Asymmetrical skin creases of the thigh or buttock
364
Give 3 systemic features associated with juvenile RA:
1. High fever
2. Salmon coloured pink rash
3. Eye inflammation
365
What is Juvenile Idiopathic Arthritis (JIA)?
Joint inflammation in children <16 years for at least 6 weeks with all other causes excluded
366
Give 5 presenting features of JIA:
1. High fever
2. Salmon coloured rash
3. Eye inflammation
4. Morning stiffness
5. Geling (stiffness after periods of rest)
6. Deterioration in mood/behaviour
7. Joint swelling
8. +/- Lymphadenopathy
9. Intermittent limp
367
What investigations are needed for JIA and what might results show? (4)
1. ESR/CRP = raised
2. WBC = raised or normal
3. HLA B27 = positive (in 90% of cases)
4. USS = changes in later disease include erosions and synovial hypertrophy
368
How do you treat JIA? (3)
1. NSAIDs
2. Steroid injections
3. Methotrexate
4. Sulfasalazine (5-ASA)
369
How do you treat developmental dysplasia of the hip?
Up to 60% resolve without treatment in the first month
370
Why is it particularly important that anyone with a rheumatological condition does NOT smoke?
They are at a higher risk of CVS disease because of their condition
371
What is osteomyelitis?
Infection of the bone marrow
372
What is the most common complication of measles?
Otitis media
373
Give 5 complications associated with measles:
1. Otitis media
2. Pneumonia (most common cause of death)
3. Encephalitis (occurs 1-2 weeks following the illness)
4. Sub-acute sclerosing pancreatitis (occurs 5 to 10 years later)
5. Myocarditis
6. Febrile convulsions
374
What organism causes measles?
A single stranded negative sense RNA paramyxovirus
375
What does the measles rash look like?
Starts behind the ears then spreads across the whole body
Maculopapular blotchy rash
376
3 key presenting features of measles:
1. Prodrome: irritable, conjunctivitis, fever, coryzal
2. Koplik spots: white sports ('grains of salt') on buccal mucosa
3. Rash: starts behind ears, spreads all over, maculopapular
377
When is the measles vaccine given?
Live MMR vaccine is given at 12 months and 3 years
378
What are Koplik spots?
White sports ('grains of salt') on buccal mucosa that are a sign of measles
379
How do you treat biliary atresia?
Surgery: Kasai procedure
380
How do you investigate biliary atresia? (2)
1. USS scan gall bladder and bile ducts
| 2. Radioisotope TBIDA scan - will show liver uptake but no excretion
381
How do you treat crigler-najjar syndrome? (2)
1. Liver transplant
| 2. Treat jaundice with phototherapy, plasma exchange transfusion and oral calcium phosphate (aids bilirubin excretion)
382
What is the difference between primary and secondary urinary incontinence?
Primary - never been dry for >3 months
Secondary - was dry for >3 months but is now incontinent again
383
How can day symptoms of urinary incontinence be managed?
1. Oxybutinin
| 2. Laxative to aid bowel control
384
3 aetiological factors that contribute to nocturnal enuresis:
1. Disorder of sleep arousal - child is not wakened by sensation of full bladder
2. Bladder factors e.g. low capacity, overactive, emptying reflexes not inhibited during sleep
3. Nocturnal polyuria - low overnight vasopressin producing lots of dilute urine at night
385
How are night-time symptoms of noctural enuresis managed?
1. Behaviour changes:
- Drink at least 6 cups of water/day before 4pmp
- Nothing to drink at least 1hr before bed
- Aim for 4-7 voids/day
2. Night time alarms
3. Desmopressin:
- Take 1hr before bed
- Do NOT drink for 8 hours after (risk of hyponatremia)
386
What is erythema infectiosum commonly known as?
Slapped cheek
387
What virus causes slapped cheek?
Parvovirus B19
388
How does slapped cheek present? (3)
1. Red rash starts on cheeks and spreads to upper arms
2. Pallor around the lips/mouth
3. Non-specific flu-like symptoms
389
Slapped cheek can cause aplastic crisis in which children?
Children with sickle cell anaemia or thalassaemia or hereditary spherocytosis
390
What causes hand-foot and mouth disease?
Coxsackie A16 virus
OR
Enterovirus 71
391
How does hand-foot and mouth disease present?
1. Starts with typical viral cough/cold symptoms and a raised temp
2. After a few days blistering red spots appear across body, more noticably on hands, feet and around the mouth
392
How do you manage hand-foot and mouth?
Conservative treatment, should resolve within 10 days
NB: VERY infectious
393
What causes scarlet fever?
throat infection with a group A haemolytic streptococci: s.pyogenes
394
What does the scarlet fever rash look like?
```
Erythematous
'Pin head' spots
Sandpaper rash
Spares the face
Desquamates around fingers and toes
```
395
How does scarlet fever present?
1. Erythematous sandpaper rash that spares the face
2. Strawberry tongue
3. Systemically unwell: fever, malaise, headache, nausea
396
How do you treat scarlet fever?
1. Swab throat
| 2. Abx immediately: PO penicillin or azithromycin
397
3 possible complications of scarlet fever:
1. Otitis media
2. Rheumatic fever
3. Glomerulonephritis
398
What age range do febrile seizures occur in?
6 months to 6 years
399
What is a febrile seizure?
A seizure in association with a fever with no definable intracranial cause. Absence of CNS infection, metabolic imbalance or neurological condition
400
How do you treat a febrile seizure?
1. Antipyretics (ibuprofen, paracetamol)
| 2. Education and reassurance of parents/carers
401
How do you treat a child with an acute seizure?
A - patent?
B - give high flow O2 15L
C - Gain IV access, take bloods for: FBC, U&E, calcium, magnesium, venous gas
D - Check blood glucose
E - Any signs of meningitis? (rash, stiff neck)
Give IV lorazepam
402
What does psoriasis look like? Where on the body does it usually present?
Dry, flaky, scaly erythmatous skin lesions
Raised and rough
On the EXTENSOR surfaces, commonly elbows, knees, scalp
403
Pathogenesis of psorasis:
An autoimmune reaction prompted by environmental triggers
HLA-B13 and abnormal T cell activity stimulates keratinocyte proliferation
404
How do you treat psorasis?
Topical corticosteroids or vitamin D analogues
405
What is the inheritance pattern for congenital adrenal hyperplasia?
autosomal recessive
406
How does the classic form of congenital adrenal hyperplasia present at birth in males and females?
```
Presents in childhood
Females:
- Ambigious genitalia
- Enlarged clitoris and a common urogenital sinus (no separation between urethra and vagina)
- Internal female organs are normal
Males:
- No signs at birth
- Subtle hyper-pigmentation and possible penile enlargement
```
407
In boys, how do the salt-losing and non-salt losing forms of congenital adrenal hyperplasia present differently?
Salt-losing:
- Typically present at 7-14 days of life
- Vomiting
- Weight loss
- Lethargy
- Dehydration
- Hyponatremia
- Hyperkalaemia
Non-salt losing:
- Early virilisation (development of secondary sexual characteristics) at age 2-4 years
408
Pathogenesis of congenital adrenal hyperplasia:
1. A faulty gene prevents the adrenal cortex from producing cortisol/corticosteroids (commonly due to a deficiency in 21-hydroxylase)
2. Low levels of corticosteroids are detected in the blood by the brain, the brain signals to the adrenal cortex to work harder
3. The cortex under goes hypertrophy but STILL can't produce cortisol
4. Instead the cortex produces excess androgens
= Low corticosteroids, High androgens
409
How do you investigate congential adrenal hyperplasia?
1. Serum 17-hydroxyprogesterone: high level in a random blood sample is diagnostic of classic 21-OHD
2. Corticotropin stimulation test
3. Pelvic USS of ambigious genitalia
5. Bloods (U&Es, blood glucose)
6. Genetic analysis
410
How do you treat classic congenital adrenal hyperplasia? (3)
1. Glucocorticoids: Hydrocortisone
2. Mineralocorticoids: fludrocortisone
3. NaCl supplmentation (if salt-losing)
NB: All those on glucocorticoids should wear a medical emergency ID
411
How can congenital adrenal hyperplasia be managed prenatally?
Pregnant women with classic CAH may be given dexamethasone to suppress the fetal HPA axis and reduce the genital ambiguity of affected FEMALE infants
412
What is immune thrombocytopenia (ITP)?
An autoimmune condition in which the number of circulating platelets is reduced
There is antibody mediated platelet destruction and inhibition of platelet production
413
How does ITP present?
Ranges from no symptoms to life-threatening intracranial haemorrhage
Commonly: petechiae, bruising, nosebleeds
414
Management of ITP: (general & pharmacological)
```
General measures:
- Avoid contact sport
- Avoid aspirin and NSAIDs
- Education about symptoms to look out for
First line pharmacological tx:
- Prednisolone
- IV immunoglobulin
- IV anti-D immunoglobulin in rhesus positive children
Second line:
- Rituximab
- High dose dexamethasone
```
415
What is Faconi's anaemia?
An inherited condition that causes bone marrow failure
416
What is the inheritance pattern for Faconi's anaemia?
Most often: autosomal recessive
417
Presentation of Faconi's anaemia:
1. Dysmorphic features
2. Pancytopenic bone marrow failure
3. Cafe au lait spots
4. Bleeding
5. Susceptibility to infection
418
How is Faconi's anaemia diagnosed?
1. FBC
2. Bone marrow biopsy
3. Chromosomal studies
419
What is aplastic anaemia?
A rare (usually idiopathic) condition defined by pancytopenia with hypocellular bone marrow in the absence of an abnormal infiltrate or marrow fibrosis
420
To diagnose aplastic anaemia there must be two of the following:
- Hb <100g/L
- Platelets <50 x10^9/L
- Neutrophils <1.5 x10^9/L
421
How do you treat aplastic anaemia?
1. Haematopoetic stem cell transplant
2. Immunosuppressive therapy
3. Supportive care:
- Blood transfusions
- Prophylactic
antivirals
422
How does sixth disease present? (5)
Tends to affect children aged 6-24 months:
1. High fever
2. Maculopapular rash
3. Convulsions
4. Palpable posterior lymph nodes
5. D&V
423
What is roseola infantum? How is it treated?
AKA sixth disease
An infection with human herpes virus 6
Self-limiting, resolves on its own
424
Give two bugs that cause impetigo:
Most commonly s.aureus
| Less common = s.pyogenes
425
What is a key sign of impetigo?
"golden crust" around the nose or mouth
426
How do you treat impetigo?
Swab to confirm
Topical fusidic acid
And oral abx if systemic symptoms
427
How do you differentiate between candida and nappy rash?
Candida will cause a more inflamed rash which is brighter or darkers red
It will also have satellite lesions and oral lesions
428
Give 3 conditions associated with undescended testes:
1. Prader-Willi syndrome
2. Kallmann's syndrome
3. Congenital adrenal hyperplasia
429
How and when should you treat bilateral undescended testes?
If descent has not occured by the age of 6 months spontaneous descent is unlikely
Treatment (surgery) should be completed by 18 months at the latest as there is potential for loss of future fertility
430
What are the important potential complications of undescended testes? (3)
1. Risk of testicular torsion
2. Risk of testicular trauma
3. Three-fold increase in risk of testicular cancer
All contribute to risk of infertility
431
At what age is testicular torsion most common?
13-16 years
432
Presentation of testicular torsion:
1. Sudden severe pain in one testis
2. Lower abdominal pain
3. N&V
4. Onset during sport/physical activity
NB: Pain easing is NOT necessarily a good sign, pain can ease as necrosis sets in
433
What might you see when examining for testicular torsion? (3)
1. Red scrotal skin
2. Swollen tender testis retracted upwards
3. Absence of the cremasteric reflex
434
How do you differentiate between hydrocele and testicular torsion?
Hydrocele is usually painless swelling and the scrotum will transilluminate
435
Give 3 differential diagnoses for testicular torsion:
1. Hydrocele (less painful, scrotum transilluminates)
2. Epididymitis, orchitis or epididymo-orchitis (older age group, sexually active)
3. Testicular tumour (gradual onset enlargement, no pain)
436
What is the difference between manifest and latent strabismus?
Manifest = always evident
Latent = Eyes appear to be looking straight forwards when open but the deviation can be elicited by the cover test
437
```
What do the following terms mean?
Hypotropia
Hypertropia
Exotropia
Esotropia
```
Hypotropia - eye deviates down
Hypertropia - eye deviates up
Exotropia - eye deviates outwards
Esotropia - eye deviates inwards
438
How do you manage strabismus?
```
Conservative management:
- Glasses/lenses
- Prisms
- Orthoptic exercises
SurgeryL
- Resection of appropriate extraoccular muscle
Botulinum toxin:
- Injected into appropriate extraoccular muscle
```
439
Inheritance pattern of fragile X syndrome:
X-linked, repeat expansion disorder of the FMR1 gene
440
3 facial features typical of Down's syndrome:
1. Low set ears
2. Protruding tongue
3. Flat facial profiel
441
4 common associated conditions with Down's syndrome:
1. Congenital heart disease e.g. ToF
2. GI problems e.g. duodenal atresia
3. Developmental hip dysplasia
4. Cataracts
5. Deafness
6. Leukaemia
7. Eczema
442
Features of Klinefelter syndrome: (5)
Once in mid-puberty:
1. Hypergonadotrophic hypogonadism with decreased testosterone
2. Infertility (azoospermia)
3. Gynaecomastia
4. Small testes
5. Slightly reduced IQ
NB: Many people with Kleinfelter will go undiagnosed until it comes to light when investigating infertility during adult life
443
What causes Kleinfelter syndrome?
Chromosomal abnormality as a result of non-dysjunction during maternal oogenesis
47, XXY
444
What is the name for the syndrome caused by trisomy 18?
Edwards syndrome
445
Features of Edwards's syndrome seen at birth: (4)
1. Low birth weight
2. Facial abnormalities; small jaw, microencephaly, cleft lip
3. Congenital heart defects
4. "rocker bottom" feet (prominent calcaneus)
And more...
446
What causes Turner's syndrome?
Loss or abnormality of the second X chromosome in at least one cell line in a phenotypic female
45, X (most commonly)
Usually due to non-dysjunction
447
What is the main noticable feature of Turner's syndrome?
Short stature
Other features:
- Obesity
- Broad webbed neck
- Widely spaced hypoplastic nipples
448
What causes duchenne muscular dystophy?
Mutations in the dystrophin gene on chromosome Xq28
449
What is the Gower's manoeuvre sign?
When asked to stand from sitting on the floor, a child with duchenne muscular dystrophy will have a lot of difficulty and will climb their thighs with their hands - shows a weak pelvic girdle
450
What causes Marfan syndrome?
Variable autosomal dominant condition caused by mutation in the FBN1 gene on chromosome 15q
451
Phenotypic features of marfan syndrome:
1. Tall
2. Slim
3. Scoliosis
4. High narrow palate
5. Pectus malformation of the sternum
452
Cardiac features of Marfan syndrome:
Floppy mitral valve
| Dilation of the aortic root leading to aortic aneurysms
453
Name 3 syndromes that are associated with cardiac problems;
1. Di George (chromosome 22q11.2)
2. Marfan (chromosome 15q)
3. Williams syndrome (chromosome 7q11)
454
Features of fragile X: (3)
1. Global developmental delay
2. Gaze avoidance
3. Stereotyped behaviours
```
Mild-moderate learning difficulty
Long and narrow face
Large ears
Flexible fingers
Large testicles
```
455
Features of Angelman syndrome: (3)
1. Severe developmental delay
2. Ataxic wide based gait
3. Seizures
4. Profound speech impairment
456
What must you monitor in a child on methyphenidate? Why? How often?
Weight and height every 6 months because ritalin suppresses appetite
457
What is the diagnostic investigation for NEC?
abdo xray
458
Features of an innocent murmur: (5)
```
Soft
Symptomless
Standing/sitting (vary with position)
Systolic
Short
```
