Paeds Flashcards
(681 cards)
1
Q
Give 3 signs of respiratory failure.
A
Hypoxaemia despite high FiO2
Acidosis
Increasing fatigue, or absence of movement with therapy
(OH)
2
Q
Define pneumonia
A
An infection of the lower respiratory tract and lung parenchyma that leads to consolidation
(OH)
3
Q
Give a common infecting agent of pneumonia in neonates, and what is the first line treatment?
A
group B strep E coli Klebsiella staph aureus (OH) IV Broad spectrum abx
4
Q
Give a common infecting agent of pneumonia in infants and school age children.
A
Infants strep pneumoniae chlamydia School age: Strep pneumoniae staph aureus group A strep bordetella pertussis mycoplasma pneumoniae (OH)
5
Q
What is the first line treatment for pneumonia in children?
A
Amoxicillin (Co-amox if influenza, erthryomycin 2nd line/m. pneumoniae, Macrolides for atypical pneumonia) PTS
6
Q
What is croup and how does it present?
A
Common laryngotracheobronchitis. This is upper airway. Barking cough, harsh stridor and hoarseness, usually preceded by (low-grade) fever and coryza.
7
Q
Give 6 signs of respiratory distress in an infant.
A
Raised respiratory rate Use of accessory muscles of breathing, such as the sternocleidomastoid, abdominal and intercostal muscles Intercostal and subcostal recessions Nasal flaring Head bobbing Tracheal tugging Cyanosis (due to low oxygen saturation) Abnormal airway noise
8
Q
What causes croup?
A
Usually viral, parainfluenza viruses.
9
Q
How is croup differentiated from epiglottitis and tracheitis?
A
Epiglottitis/tracheitis: rarer but more severe, no barking cough, rapid onset, high grade fever >39 degrees, may be drooling. Bacterial.
Croup: fever below 39, barking cough, slower onset, can speak and swallow. Viral
10
Q
How do you initially manage an upper airway restriction?
A
Don’t examine the throat or do a swab because it could cause further airway occlusion.
Be calm, confident and well-organised
Observe for hypoxia and deterioration
If severe, administer adrenaline and call anaesthetist.
if resp failure, intubate
11
Q
What is the most common time of year and age group for croup?
A
6 months to 3 years, peak at 1 year. Autumn.
12
Q
How is croup managed?
A
If upper airway obstruction is mild, and the parents can easily take the child into hospital if they get worse, they can be managed at home with careful observation.
Oral dexamethasone, oral pred and nebulised budesonide reduce severity and duration of croup, and the need for hospitalisation.
(Textbook)
13
Q
What is pseudomembranous croup?
A
aka Bacterial tracheitis. Rare but dangerous upper airway condition in which child has high fever, appears toxic and has rapidly progressive airways obstruction with copious secretions. Caused by staph aureus.
14
Q
How is bacterial tracheitis managed?
A
IV antibiotics, intubation and ventilation if required.
15
Q
What is acute epiglottitis? How does it present?
A
Life-threatening emergency due to risk of respiratory obstruction. Acute onset, fever >39 in a toxic-looking child, very painful throat, cant swallow or speak, soft inspiratory stridor, open-mouthed and sitting upright to optimise airway.
16
Q
What causes epiglottitis?
A
H influenza B. This is vaccinated against, so if they havent been vaccinated, have a higher index of suspicion. Swelling of epiglottis and surrounding tissues associated with septicaemia.
17
Q
What is the most common age group for epiglottitis?
A
Age 1-6 but can affect all age groups
18
Q
How is acute epiglottitis managed?
A
Do not lie the child down or examine the throat.
Admit to ICU/anaesthetic room accompanied by doctor in case of resp obstruction. Call anaesthetist, paediatrician and ENT surgeon.
Intubate, anaesthetise.
Once stable, blood cultures and IV cefuroxime
H influenzae –> rifampicin prophylaxis to close contacts
19
Q
What is bronchitis? What are the 2 main presenting symptoms?
A
In children, this refers to acute bronchitis and usually presents with cough and fever. It may be caused by pertussis. (Textbook)
20
Q
What is pertussis?
A
Aka whooping cough. Term for the highly contagious respiratory infection caused by bordatella pertussis bacterium.
21
Q
Describe the presentation and disease course of pertussis.
A
1 week catarrhal phase: coryza
Then 3-6 weeks paroxysmal phase: coughing fits, inspiratory ‘whoop’. Coughing fits often worse at night and may culminate in vomiting, epistaxis and/or subconjuctival haemorrhage. Child goes red or blue, mucus flows from nose and mouth, apnoea may occur
Convalescent phase: Symptoms decrease.
22
Q
What are the complications of pertussis?
A
Pneumonia, convulsions, bronchiectasis. They are rare but there is still a significant mortality, particularly in infants.
23
Q
Who is most at risk of pertussis?
A
Not vaccinated
24
Q
How should you manage a child with cough spasms?
A
Admit, isolate from other children, do nasal swab and PCR for b. pertussis. Blood film will show lymphocytosis >15x10^9/L
25
What is the role of antibiotics for pertussis?
Erythromycin eradicates b.pertussis but only decreases symptoms if started in the catarrhal phase so not used for most children. Therefore close contacts should have erythromycin prophylaxis.
26
What is the commonest serious respiratory infection of childhood, causing admission of 2-3% of infants each year?
Bronchiolitis.
27
Who is most at risk of bronchiolitis?
1-9 months, rare in >1 year olds
28
What causes bronchiolitis?
Respiratory syncytial virus (RSV) - 80%
| Rest - human metapneumovirus, influenza, parainfluenza viruses, rhinovirus, adenovirus, m. pneumoniae
29
What are the clinical features of bronchiolitis?
Coryza
Then dry cough and increasing breathlessness
Feeding difficulty associated with increasing dyspnoea is often the reason for hosp admission
Recurrent apnoea in young infants
30
Who is most at risk of severe bronchiolitis? What is the usual causative organism?
Dual infection with RSV + human metapneumovirus
| Affects premature infants, with bronchopulmonary dysplasia, CF, congenital HD
31
What signs on examination would be suggestive of severe bronchiolitis?
Apnoea in infants <4 months
Sharp, dry cough
Cyanosis/pallor
Hyperinflation of the chest causing downward displacement of the liver and prominent sternum
Subcostal and intercostal recession
Auscultation: fine end-inspiratory crackles, prolonged expiration.
32
What investigations would you do for bronchiolitis?
Respiratory viruses diagnosed with PCR analysis of nasopharyngeal secretions.
CXR (not always necessary): hyperinflation, air trapping, focal atelectasis.
Pulse oximetry for continuous sats
33
How would you manage bronchiolitis?
Supportive:
Humidified oxygen through nasal cannulae, concentration required determined by o2 sats
Monitoring for apnoea
Infection control - RSV highly contagious
High-risk infants (preterm, chronic lung disease, immunodeficiency) will receive palivizumab (synergis) which is a mab against RSV, over winter. (£££)
34
Describe the prognosis/complications of bronchiolitis.
Most recover in 2 weeks, but half will have recurrent episodes of cough and wheeze. Rarer: bronchiolitis obliterans - permanent damage.
35
What is asthma?
Asthma is a disease of chronic airway inflammation, bronchial hyper-reactivity, and reversible airway obstruction.
36
What is wheeze and how is childhood wheeze classified?
Wheeze is a high-pitched, expiratory sound from distal airway obstruction. Childhood wheeze is split into recurrent (eg IgE mediated) and episodic (eg viral episodic wheeze aka viral induced wheeze)
(Lissauer)
37
What are crackles?
Discontinuous 'moist' sounds from the opening of the bronchioles (Lissauer)
38
What is stridor? Give 3 causes.
```
Harsh, low pitched, mainly inspiratory sound from upper airway obstruction.
Laryngomalacia
Anaphylaxis
Croup
Epiglottitis
```
39
Which chest disorder is likely in a child with rapid, shallow breathing and reduced chest movement on one side? What would you look for on further examination?
Pneumonia.
Percussion: dullness
Auscultation: bronchial breathing, crackles
40
Give 5 differentials for a wheezing infant and one sign for each.
Atopic asthma - age >3, triggered by cold/pets, dirunal variation
Transient early wheeze - age <3, winter, preterm, maternal smoking
Bronchiolitis: 1-9 months, poor feeding, dry cough laboured breathing, apnoea, liver displacement
Pneumonia: tachypnoea, nasal flaring, lethargy, cyanosis
Cardiac failure: resp distress, heart murmur, hepatomegaly
[lissauer]
41
What causes the symptoms of asthma?
Bronchial inflammation occurs as a result of atopy, genetic factors, and environmental factors eg cold, smoking and aerosols. This causes oedema, mucus production, and infiltration with immune cells. This leads to hyper-responsiveness of the bronchi. The airways narrow, causing peak flow variability, wheeze, c cough, breathlessness, and chest tightness.
42
Which virus triggers most asthma exacerbations?
Rhinovirus
43
What features of the history would be suggestive of asthma?
Recurrent polyphonic wheeze (more than once)
Triggers - exercise, pets, cold air, laughter
worse at night and early morning
interval symptoms (between exacerbations)
personal or family history of atopy
44
What investigations would you do to diagnose asthma?
Trial with bronchodilators
examination of chest: there may be Harrison sulci (depressions at base of thorax), hyperinflation, polyphonic expiratory wheeze, prolonged expiration.
Examine nasal mucosa for allergic rhinitis, skin for eczema
Peak flow - diurnal variation, improves after bronchodilators. Variability in PEF in uncontrolled asthma.
45
What would be first line management for asthma?
SABA such as salbutamol. Effective for 2-4 hours.
| Consider ipratropium bromide (anticholinergic) in young infants.
46
When are long-acting beta agonists indicated? What should always be prescribed with a LABA?
LABAs eg salmeterol/formoterol are used in severe exercise-induced asthma. Effective for 12 hours. (1st line is still a SABA before exercise). Always prescribed with inhaled steroid.
47
What are 3 side effects of inhaled corticosteroids?
Impaired growth, adrenal suppression, altered bone metabolism. These only really occur in high doses.
48
What is the first-choice add-on therapy in a child under 5?
Oral leukotriene receptor antagonist such as montelukast.
| In a child over 5 it is a LABA eg salmeterol
49
Why is theophylline rarely used in children?
Side-effects of vomiting, insomnia, headaches, and poor concentration
50
When would oral prednisolone be indicated in asthma? why is is given on alternate days only?
Alternate days to reduce adverse effect on height
Used for severe persistent asthma where other treatment has failed. Managed by a specialist.
[lissauer]
51
In what circumstance would you admit a child with asthma to hospital?
If, after high dose bronchodilator therapy, they:
have not responded adequately clinically: persisting breathlessness and tachypnoea
are exhausted
still have marked reduction in PEF predicted or usual
O2 <92% on air
52
How is moderate acute asthma defined and managed?
O2 >92%, PF >50%:
| SABA via spacer start at 2-4 puffs increase by 2 puffs every 2 min up to 10 puffs. Reassess in 1 hr
53
How is severe acute asthma recognised and managed?
O2 <92, PF <50%, breathless, accessory muscle use, tachypnoea, tachycardia
SABA via spacer, 10 puffs, oral pred/IV hydrocortisone, repeat bronchodilators every 20-30 mins as needed
54
How is life-threatening acute asthma recognised and managed?
O2 <92%, PF <33%, silent chest, poor resp effort, reduced consciousness, cyanosis
SABA via NEBULISER, ipratropium bromide, IV hydrocortisone, PICU/paediatrician, repeat bronchodilators every 20-30 mins.
[lissauer]
55
What is cystic fibrosis?
An autosomal recessive disorder affecting the CFTR protein. impaired Cl- transport causes thickened secretions, multi-system effects, mainly pancreatic insufficiency and chronic respiratory infections.
56
How is CF usually diagnosed?
Part of routine heel prick screening at 5-9 days looking for raised immunoreactive trypsinogen (IRT) and 29 CFTR gene mutations from blood-spot analysis on the Guthrie card.
If this is raised, sweat test is done. High Cl- levels in the sweat due to lack of cl- channel so Cl- can't leave the sweat.
Less commonly presents clinically with FTT, chest infections, pancreatic insufficiency.
[Ox handbook]
57
How is CF inherited?
Autosomal recessive.
58
Which disease is associated with mutation in delta F508?
Cystic fibrosis
59
Which infectious agents are associated with cystic fibrosis?
S. aureus
H. influenza
P. aeruginosa
Burkholderia species
60
Which vitamins are given to people with CF and why?
Fat soluble vitamins (A, E, D, K) because loss of CFTR leads to blocked pancreatic ducts, pancreatic enzymes cannot get to the bowel to break down fat and protein, so they cannot absorb fat-soluble vitamins.
61
What problems can CF cause in infancy? Give 3
Meconium ileus - meconium is thick and impacted, causing small bowel obstruction
Prolonged neonatal jaundice
Hypoproteinaemia, oedema
[ox handbook]
62
What problems can CF cause in childhood? Give 3
```
Recurrent LRTIs
Bronchiectasis
Poor appetite
Rectal prolapse
Nasal polyps
Sinusitis (rare to have symptoms)
[ox handbook]
```
63
Describe the pulmonary management in CF, outside of exacerbations.
MDT: paediatric pulmonologist, physiotherapist, dietician etc.
Annual multisystem review
Pulmonary care - physiotherapy twice a day, antimicrobial therapy against s. aureus and h. influenzae, oral when well
Mucolytics - recombinant DNAase or inhaled hypertonic saline, 2h before physio
Oral azithromycin (long term anti inflammatory)
64
How is exacerbation of CF managed?
IV antibiotics against s. aureus and h. influenzae
65
What GI problems occur in CF and how are they treated?
Distal intestinal obstruction. treated with:
Lactulose
oral acetylcysteine
Gastrographin
66
What is otitis media and what causes it?
Infection of the middle ear. It is a common cause of conductive hearing loss.
Causes:
viral -RSV, rhinovirus
bacterial - pneumococcus, H influenza, moraxella catarrhalis.
67
What age group does otitis media usually affect and why?
6-12 months. Most children will have at least one episode of OM.
It affects children more because the eustachian tube is shorter, horizontal and functions poorly.
68
Why must you examine the tympanic membrane in any febrile child? What are you looking for?
To look for otitis media, a common infection of the middle ear. In acute OM the tympanic membrane would be bright red and bulging with the loss of normal light reflection. Occasionally, there is acute perforation of the eardrum with pus visible in the external canal.
69
What are two serious but rare complications of otitis media?
Mastoiditis
| Meningitis
70
How is otitis media managed?
Analgesia - paracetamol, ibuprofen, regular until acute inflammation has resolved
most cases resolve spontaneously. Amoxicillin may be prescribed for the parent to use if the child remains unwell after 2-3 days.
recurrent OM can lead to OME.
71
What is glue ear?
Recurrent OM can lead to glue ear aka otitis media with effusion (OME)/ secretory OM/ serous OM, is the accumulation of fluid in the middle ear without pain and fever sx of OM.
72
How does OME present?
Asymptomatic apart from possible decreased hearing/inattentiveness.
73
How does OME appear on examination of the ear?
Eardrum is dull and retracted, often with a fluid level visible.
74
How is OME diagnosed?
Tympanometry - flat trace +
| Pure tone audiometry - conductive loss.
75
What age groups tend to be affected by OME?
2-7 years, peak between 2.5 and 5 yrs.
76
How is OME managed?
Like OM, should resolve spontaneously and there is no evidence for abx.
If there is conductive hearing loss, grommets may be beneficial.
Cochrane review suggests adenoidectomy may have better long term benefit - adenoids can harbour organisms with biofilms that contribute to infection spreading to the eustachian tubes. Grossly hypertrophied adenoids may also obstruct the eustachian tubes --> poor ventilation of the middle ear, recurrent infection.
77
Which type of hearing loss is more common and associated with better prognosis?
Conductive hearing loss.
78
Which type of hearing loss is associated with profound hearing loss and does not tend to improve?
Sensorineural (rare)
79
What are the most common causes of sensorineural hearing loss?
Inherited syndromes: Usher syndrome, Waardenburg syndrome. Also Alport, Pendred, Jewel-Lang-Niellsen
80
What part of the auditory pathway is affected in conductive hearing loss?
Conductive hearing loss is due to an abnormality in the external or middle ear. Usually middle ear, often otitis media with effusion.
81
What part of the auditory pathway is affected in sensorineural hearing loss?
Inner ear: cochlea/ auditory nerve.
82
How is sensorineural hearing loss managed?
Amplification with hearing aids
Cochlear implant if insufficient amplification
Usually can be taught in a mainstream school with assistance from peripatetic (visiting) specialist teacher.
Makaton may be useful if also learning disabled.
83
How is conductive hearing loss managed?
See OME treatment - usually resolves spontaneously but grommets +/- adenoidectomy may be indicated.
84
What are tympanostomy tubes?
A tympanostomy tube aka grommet/myringotomy tube, is a small tube inserted into the eardrum in order to keep the middle ear aerated for a prolonged period of time, and to prevent the accumulation of fluid in the middle ear.
85
When are tympanostomy tubes used?
Children with recurrent URTIs and chronic OME that do not resolve with conservative measures.
86
What is strabismus?
aka squint. Misalignment of the visual axes of the two eyes so they appear to point in different directions.
87
What causes squint?
Most common type is concomitant, which is usually due to refractive error. The refractive error is usually hypermetropia (short-sightedness). It means the image on the retina is distorted, so the eye tries to compensate.
Also exclude paralytic squint (paralysis of motor nerves;), cataracts, retinoblastoma, other intra-ocular causes.
Pseudosquint can occur when there is a wide epicanthus, and will have normal equal light reflection in both pupils.
88
How would you investigate a squint in an infant?
Corneal light reflexes:
Pseudosquint can occur when there is a wide epicanthus, and will have normal equal light reflection in both pupils.
Specialist test: cover test, done at 6m and 33cm. The squinting eye moves to become 'normal' when the normal ('fixing') eye is covered.
Alternating cover test for latent squint: eyes appear normal, but when covered, the squinting eye deviates, and you can see this when the cover is removed.
89
Describe the management of squint.
Orthoptist + ophthalmic surgeons
Relieve any deprivation eg ptosis/cataract
Correct refractive error: convex lens for hypermetropia
Patch 'good' eye to train up the 'lazy' eye.
Eye muscle exercises
Refer to opthalmologist if squint is divergent, paralytic of persistent after 2 months of age.
90
When is squint normal?
Transient neonatal misalignment: <3 months of age, child still learning to see, grows out of it. Only squints occasionally.
91
What is peri-orbital cellulitis caused by?
Infection of the peri-orbital skin due to s. aureus, or if not immunised, H influenza B.
[Oxford]
92
What should you suspect in a child with fever, erythema and recent dental abscess?
Peri-orbital cellulitis. May also be systemically unwell, with tenderness and oedema over the orbit.
93
How is peri-orbital cellulitis managed?
Risk of developing to orbital cellulitis which is an emergency. Consider CT to exclude abscess. IV abx 5-7 days.
94
How would you identify orbital cellulitis and how would you manage it?
Ocular proptosis, limited ocular movement, decreased visual acuity.
High dose IV 2nd gen cephalosporin (eg cefuroxime) + metronidazole if over 8 yrs.
CT to detect abscess which requires surgical drainage.
95
Why would you do a CT for peri-orbital cellulitis?
Exclude intracranial abscess, meningitis, cavernous sinus thrombosis, or developing orbital cellulitis.
96
Describe the normal changes in circulation that occur when a baby is born.
In the fetus, the pressure in the right atrium is higher than that in the left atrium, because the R atrium receives blood from the placenta while the L atrium receives little blood from the fetal lungs. The foramen ovale is open and allows blood to flow from the left atrium into the right atrium. Therefore blood is basically mixed.
As the infant takes its first breaths, there is increased pressure in the L atrium because of increased blood through the lungs, and decreased pressure in the R atrium because there is no longer placental input. This different pressure gradient causes the foramen ovale to close, forming two separate circulations as in the adult.
97
What is the foramen ovale? When should it close?
Connects the right and left atria in the fetus. Should close immediately at birth. Pathology: PFO/ASD.
98
What is the ductus arteriosus? When should it close?
Connects the pulmonary artery to the aorta in the fetus. Should close within days of birth. Pathology: PDA.
99
What is VSD and how does it present?
Ventricular septal defect. Hole in ventricular wall. Pressure in L>R so you get L to R shunt at first, which is acyanotic, but the R heart strain can lead to R to L shunt and cyanosis (Eisenmenger syndrome)
100
How would you distinguish between a small and large VSD, and which is more common?
Small is more common (80%). Both cause a pansystolic murmur at LLSE but the louder the murmur the smaller the hole, so small VSD = loud murmur.
A large VSD (20%) would be symptomatic, with HF, SOB, FTT, chest infections. Tachypnoeic and tachycardic, hepatomegaly due to HF, active precordium. and apical mid-diastolic murmur due to increased flow across the mitral valve after blood has circulated through the lungs.
101
What is the management for a small VSD?
It should close spontaneously, which you can identify as the murmur disappears, echocardiogram is normal.
In the meantime keep good dental hygiene to decrease the risk of IE.
102
What is the management for a large VSD?
Diuretics for heart failure,
captopril for risk of pulmonary hypertension
calories for FTT
surgery at 3-6 months for risk of pulmonary hypertension
103
What complications are associated with large VSDs?
Pulmonary hypertension due to high pulmonary blood flow. This will ultimately lead to irreversible damage of the pulmonary capillary vascular bed --> risk of Eisenmenger syndrome.
Therefore surgery at 3-6 months of age.
104
Give 3 signs on X ray for VSD.
Cardiomegaly
Enlarged pulmonary arteries
increased pulmonary vascular markings
pulmonary oedema
105
What is Eisenmenger syndrome?
High pulmonary blood flow due to a large L to R shunt (eg large VSD, ASD or PDA) or common mixing is not treated, the pulmonary arteries become thick walled, and there is increased resistance to flow (pulmonary hypertension).
Later in life (as quickly as 2 years in large shunts but usually teenagers) the shunt reverses, and the patient becomes blue, which is Eisenmenger syndrome. This situation is progressive and the adult will die in R heart failure in their 30s/40s.
Can develop more quickly in pregnancy.
106
What are the main types of atrial septal defect and which is most common?
Mainly ostium secondum: septum secundum fails to close
Ostium primum: Septum primum fails to close. This is an AVSD
PFO - foramen ovale fails to close. Not technically an ASD
107
How does atrial septal defect present?
Asymptomatic.
May have recurrent chest infections/ wheeze. arrhythmias in later life.
Signs - mid-systolic crescendo-decrescendo murmur at upper left sternal edge due to increased blood flow across the pulmonary valve.
Split s2 due to RV stroke volume being equal in inspiration and expiration because blood flowing across ASD. Doesn't vary with inspiration/expiration.
108
Give 3 signs of atrial septal defect on CXR.
Cardiomegaly, enlarged pulmonary arteries, pulmonary vascular markings.
109
Give 4 complications of atrial septal defect.
Paradoxical embolism - normally a clot would go to the lungs, but because the atria connect, the clot could go into the arterial circulation to the brain.
Atrial fibrillation or flutter (adults may require anticoagulation)
Pulmonary hypertension/ right heart failure
Eisenmenger syndrome
110
Give 3 heart defects that can cause a right to left shunt and therefore cyanotic heart disease.
VSD, ASD, PDA, TGA.
111
What is patent ductus arteriosus?
Ductus arteriosus fails to close by 1 month after due date.
Blood therefore flows from the descending aorta to the pulmonary artery (L to R), causing right and then left heart strain and hypertrophy.
RFs: Rubella, prematurity, genetics.
112
Which side of the heart contains oxygenated blood?
The left. Therefore LV is stronger. An L to R shunt means arterial blood gets into the pulmonary circulation.
113
How does PDA present?
Continous crescendo-decrescendo 'machinery' murmur beneath left clavicle. Murmur continues into diastole because the pressure in the pulmonary artery is lower than that in the aorta throughout the cardiac cycle.
Pulse pressure decreased --> collapsing/bounding pulse.
Usually asymptomatic, closes on its own, or may get pulmonary hypertension and HF later in life.
114
How is PDA usually diagnosed?
Echocardiography. X ray and ECG normal or similar to VSD if duct is large.
115
What is the management for PDA?
Monitor until 1 yr using echo. At 1 yr it is unlikely to close spontaneously so you close it with transcatheter or surgical closure to abolish risk of IE and pulmonary vascular disease.
Patients who are sympatomatic/ have HF are treated earlier.
116
Give 2 examples of right to left shunts. Which is the most common?
Tetralogy of fallot (most common)
| Transposition of the great arteries
117
Cyanosis in the first week of life with o2 <94% is likely to be due to which type of cardiac abnormality?
Right to left shunt, eg tetralogy of fallot/TGA. L to R shunt eg septal defect would cause breathlessness, and common mixing would cause breathlessness with cyanosis.
118
What is the hyperoxia test?
Aka nitrogen washout. Used to determine presence of heart disease in a cyanosed neonate. Infa t put on 100% oxygen for 10 min, if PaO2 remains low, they have cyanotic congenital heart disease, as long as lung disease and persistent pulmonary hypertension of the newborn have been excluded.
119
What is the management for a duct-dependent lesion?
Duct-dependent means cyanotic eg ToF, TGA.
ABCDE
Prostaglandin infusion (PGE)
Usually duct-dependent so need to maintain ductal patency to survive.
120
What are the 4 cardinal features of tetralogy of fallot?
1. Large VSD
2. Overriding aorta
3. Subpulmonary stenosis --> right ventricular outflow tract obstruction -->
4. Right ventricular hypertrophy.
121
Give 3 signs of tetralogy of fallot on X ray.
Small heart
Pulmonary artery 'bay': L heart border lack of normal pulmonary artery and RV outflow tract.
Uptilted apex --> 'boot shaped'
Oligaemic lung fields
122
What is Marfan syndrome and how is it managed?
```
AD condition --> lack of fibrillin --> abnormal connective tissue.
Features:
Tall stature
Long neck
Long limbs
Long fingers (arachnodactyly)
High arch palate
Hypermobility
Pectus carinatum or pectus excavatum
Downward sloping palpable fissures
```
Associated Conditions:
Lens dislocation in the eye
Joint dislocations and pain due to hypermobility
Scoliosis of the spine
Pneumothorax
Gastro-oesophageal reflux
Mitral valve prolapse (with regurgitation)
Aortic valve prolapse (with regurgitation)
Aortic aneurysms
Management:
Surgical correction of valve disorders
Minimise the blood pressure and heart rate to minimise the stress on the heart and the risk of complications developing - avoid intense exercise, caffeine and other stimulants, give BB/ARB
Pregnancy - risk of developing aortic aneurysms and associated complications.
Physiotherapy
Genetic counselling
Yearly echocardiograms and review by an ophthalmologist.
123
How does tetralogy of fallot present?
| What would be seen on ECG?
Antenatal diagnosis/murmur (loud harsh ejection systolic murmur at left sternal edge, getting shorted with time as the R ventricular outflow tract gets more obstructed)
If untreated, it can present late with severe cyanosis, hypercyanotic spells and squatting on exercise.
ECG: Right ventricular hypertrophy. Upright T wave in V1 with 'pure' R wave (no S wave)
124
How is tetralogy of fallot managed?
Medical
Neonatal cyanosis - subclavian artery-pulmonary artery shunt to increase pulmonary blood flow.
Surgery at 6 months to close VSD and relieve RV outflow tract obstruction.
125
An infant with tetralogy of fallot has cyanosis, irritability, hypoxia, pallor, and breathless for 15 minutes. What is the diagnosis and management?
Hypercyanotic spell. Important to identify as can lead to MI/CVA/death.
Usually left limiting and followed by period of sleep but if >15 min, treat: sedation, morphine, IV propranolol, fluids, bicarb to correct acidosis. Muscle paralysis and artificial ventilation in order to reduce metabolic oxygen demand.
126
What is transposition of the great arteries?
The aorta is connected to the right ventricle and the pulmonary artery is connected to the left ventricle (should be the other way around). Therefore the deoxygenated blood goes into the circulation and the already oxygenated blood goes back to the lungs.
127
Why is TGA in theory incompatible with life? And why do many infants still survive?
No oxygen going around the body, so should not allow life. There is co-occurring anomaly that allows mixing of the oxygenated and deoxygenated blood eg septal defect.
Also therapeutic interventions to allow mixing.
128
How does TGA present?
Cyanosis
Day 2 of life as ductal closure leads to marked reduction in mixing of desaturated and saturated blood.
Loud 2nd heart sound
129
What does TGA look like on X ray?
Narrow upper mediastinum with 'egg on side' appearance due to anteroposterior relationship of the great vessels, narrow vascular pedicle and hypertrophied right ventricle.
Increased pulmonary vascular markings due to increased pulmonary blood flow.
130
How is TGA managed?
Improve mixing to improve cyanosis - maintain patent ductus arteriosus with prostaglandins.
Balloon atrial septostomy - catheter passed into the R atrium --> foramen ovale --> inflated in the L atrium then pulle dback through the atrial septum. This tears the septum to the blood can mix.
Arterial switch operation in first days of life.
131
Give 3 causes of hepatomegaly.
Infection - hepatitis
Haematological - sickle cell/thalassaemia
Liver disease - polycystic disease
Malignancy - leukaemia
Metabolic - glycogen and lipid storage disorders
Heart failure
Apparent: chest hyperexpansion from bronchiolitis or asthma
[Lissauer]
132
What is heart failure?
When the heart is unable to pump sufficiently to maintain blood flow to meet the body's needs.
133
What is the likely cause of heart failure in a neonate?
Left heart obstruction, such as coarctation of the aorta, aortic valve stenosis, interruption of the aortic arch etc. If the obstructive lesion is severe, arterial perfusion may be achieved by right to left shunting of blood via the arterial duct. This is called 'duct dependent systemic circulation'.
134
How might heart failure present?
Symptoms:
| Breathlessness (particularly on feeding or exertion), sweating, poor feeding, recurrent chest infections.
135
What are the signs of heart failure?
Poor weight gain, tachypnoea, tachycardia, murmur, gallop rhythm, enlarged heart, hepatomegaly, cool peripheries
[Lissauer]
136
What is the most common cause of heart failure in a 3 month old?
Large septal defect (VSD, ASD, PDA) causing high pulmonary blood flow.
As the pulmonary vascular resistance falls over weeks, there is a progressive increase in L to R shunt and increasing pulmonary blood flow. This causes pulmonary oedema and breathlessness.
The pulmonary vascular resistance rises in response to the L to R shunt which may make the symptoms better but will eventually lead to Eisenmenger syndrome (irreversibly raised pulmonary vascular resistance).
137
What is the most common cause of heart failure in an older child?
L heart failure: Rheumatic cardiac disease, cardiomyopathy.
| R heart failure: Eisenmenger syndrome
138
How is heart failure managed?
Identify cause and quantify function using CXR (cardiac enlargement, lung oedema), echo (congenital heart defect), ABG (metabolic acidosis, low pO2), ECG, U+Es (hyponatraemia due to water retention)
Treat underlying cause
Bed rest, semi-upright, O2 (unless L-R shunt), calories, diuretics, ACE inhibitors.
139
What are the features of an innocent heart murmur?
```
5 Ss:
systolic
short
situational (exercise/fever/quiter on standing)
symptomless
soft
```
140
What is rheumatic fever?
The most important cause of heart disease in children worldwide; rare in UK due to abx and reduced virulence. Abnormal immune response to preceding infection with group A beta-haemolytic step (strep pyogenes). Mainly affects children aged 5-15.
141
How does rheumatic fever present? (hint: Jones)
Pharyngeal infection --> 2-6 weeks LATENT interval --> present with infection, polyarthritis, mild fever and malaise.
JONES:
Joint inflammation
<3 heart damage - new heart murmurs
Nodules on elbows, knees and forearm
Erythema marginatum: rash with thick red margins
Sydenham's chorea: rapid involuntary movement of face and hands.
142
What is chronic rheumatic heart disease?
Long term damage from scarring and fibrosis of valves. Usually mitral stenosis. Can occur due to repeated attacks of rheumatic fever with carditis. Present in adult life.
143
How is acute rheumatic fever managed?
While there is active myocarditis (ECG changes with a raised ESR), bed rest essential.
Anti-inflammatory agents - aspirin high dose, serum levels monitored.
If not resolving, give corticosteroids.
HF - diuretics, ACEIs
Pericardial effusions - pericardiocentesis
Anti-step abx if persisting infection.
144
How is recurrence of rheumatic fever prevented?
Monthly benzathine penicillin injections
Can be given orally but compliance may be a problem
Oral erythro if penicillin allergy
Until adulthood (but maybe lifelong - controversial.)
145
Which children are at highest risk of IE?
Congenital heart disease (except secundum ASD)
Turbulent jet of blood (eg VSD), co-arctation of aorta, PDA, prev rheumatic fever, or if prosthetic material inserted at surgery.
146
Give 5 signs of IE.
```
Sustained fever
Malaise
Raised ESR
unexplained anaemia or haematuria
Pallor
Peripheral stigmata - clubbing, splinter haemorrhages in nailbed, necrotic skin lesions
Neuro signs from cerebral infarction
Retinal infarcts (Roth spots)
Arthralgia
Murmur (change in character over time)
```
147
How is IE diagnosed?
High index of suspicion
Bloods: FBC (raised WCC), ESR (raised)
Repeated blood culture
Echocardiogram - valve vegetations
148
What is the most common pathogen associated with infective IE? How does it get in to the blood?
Streptococcus viridans
50% of cases. often after dental procedures.
AKA a-haemolytic strep.
149
Which pathogen can cause IE and is associated with central venous catheters?
Staphylococcus aureus.
150
How is IE managed?
High dose penicillin/vancomycin + aminoglycoside ASAP
6 weeks IV. Checking serum level of abx will kill the organism.
Surgical removal of infected prosthesis
151
What is the prophylaxis for IE?
Good dental hygiene
| NOT abx in the UK
152
What is an arrhythmia?
Cardiac arrhythmias are accelerated, slowed, or irregular heart rates caused by abnormalities in the electrical impulses of the myocardium.
[AH youtube]
153
What type of arrhythmia is normal in children?
Sinus arrhythmia.
154
How would you initially manage an arrhythmia?
ECG (24hr if intermittent arrhythmia)
Detailed hx + ex
Echocardiogram for underlying congenital heart disease.
155
What causes supraventricular tachycardia?
SVT is the most common abnormal arrhythmia of childhood. Re-entry within the AVN is the most common mechanism.
[Oxford]
156
How does SVT present?
Heart failure
157
Why is SVT concerning?
Can cause poor cardiac output, pulmonary oedema, hydrops fetalis, intrauterine death.
158
What is re-entry tachycardia?
Mechanism of most SVTs.
| Circuit of conduction is set up with premature activation of the atrium via an accessory pathway.
159
How is SVT managed?
ABCDE
correct tissue acidosis
pos pressure ventilation
vagal stimulating manoeuvres eg carotid sinus massage, cold ice pack to face
IV Adenosine -terminates tachycardia by breaking the re-entry circuit that is set up between the AVN and accessory pathway. Incrementally increasing dose.
if that fails, electrical cardioversion with a synchronised DC shock.
Maintenance therapy until 1 yr of age: fecainide or sotalol
Digoxin, + propranolol if delta waves.
resting ECG will remain abnormal but recurrence is only 10%.
160
What changes on ECG would be seen with SVT?
Narrow complex tachycardia 250-300bpm
P wave due to retrograde activation of the atrium via the accessory pathway
if HF severe, may have T wave inversion - myocardial ischaemia.
Sinus rhythm: short PR
WPW: short PR interval, delta wave due to antegrade activation of ventricle via the pathway.
161
What is wolff-parkinson-white syndrome?
Pre-excitation syndrome predisposing to SVT. Abnormal re-entry circuit of the AVN and an accessory conduction pathway connecting atrium to ventricle on L or R lateral cardiac border or within the ventricular septum.
Asso post-surgical repair, cardiomyopathy and Ebstein anomaly.
162
What is Ebstein anomaly and what syndrome is it associated with?
Congenital heart defect in which the septal and posterior leaflets of the tricuspid valve are displaced towards the apex of the right ventricle of the heart. Basically the RV and RA are one.
Asso with WPW syndrome.
163
What would be seen on ECG with WPW?
Short PR and delta wave (slow upstroke of QRS complex).
164
How is WPW managed?
Assessment to ensure they cannot conduct quickly, using atrial pacing. Reduces small chance of sudden death.
If relapse/high risk, percutaneous radiofrequency ablation or cryoablation of the accessory pathway.
165
Which antibodies are associated with congenital complete heart block?
Anti-Ro or anti-La abs in maternal serum.
166
Which arrhythmia can rarely occur in babies born to mothers with connective tissue disease?
Congenital complete heart block. Subsequent pregnancies are often affected.
167
What is congenital complete heart block, and what does it look like on ECG?
Anti-Ro or anti-La abs in maternal serum prevent normal development of the electrical conduction system in the developing heart, with atrophy and fibrosis of the AVN. Needs endocardial pacemaker.
Dissociated P waves and QRS complexes.
168
Give 2 causes of fetal hydrops.
SVT
| rarely - complete congenital heart block
169
How can complete congenital heart block present in childhood?
Presyncope or syncope
| Most remain symptom free for many years
170
Why must you do an ECG in a child with sudden LOC during exercise/stress? What are you looking for?
Long QT syndrome.
Misdiagnosed as epilepsy.
If unrecognised, sudden death from ventricular tachycardia may occur.
171
What causes long QT syndrome?
```
One of a group of channelopathies caused by specific gene mutations with gain or loss of function (others: Brugada, short QT)
Autosomal dominant
Drugs - erythromycin
Electrolytes
Head injury
```
172
What should you consider in a child with bile stained vomit?
Intestinal obstruction (malrotation with volvulus)
173
What should you consider in a child with haematemises?
Oesophagitis
Peptic ulceration
Oral/nasal bleeding
174
What should you consider in a child with projectile vomiting in the first few weeks of life?
Pyloric stenosis - look for olive sign, not keeping anything down. obstruction at the gastroduodenal junction.
175
What should you consider in a child with vomiting at the end of paroxysmal coughing?
Whooping cough (pertussis)
176
What should you consider in a child with abdominal tenderness and vomiting?
Surgical abdomen eg appendicitis - pain on movement
177
What should you consider in a child would abdominal distension and vomiting?
Intestinal obstruction including strangulated inguinal hernia
178
What should you consider in a child with hepatosplenomegaly and vomiting?
Chronic liver disease
179
What should you consider in a child with bloody stool?
Intussusception
Gastroenteritis - salmonella or campylobacter
Check kidneys and Hb for HUS.
180
What could cause severe dehydration and shock in a vomiting child?
Severe gastroenteritis
systemic infection
DKA
181
What could cause vomiting with seizures?
Raised ICP (fontanelle bulging)
182
What could cause failure to thrive and vomiting?
Gastro esophageal reflux
Coeliac
Chronic GI conditions
UTI
183
What is gastro-oesophageal reflux? Why does it happen?
Common in infancy, involuntary passage of gastric contents into the oesophagus, due to inappropriate relaxation of the lower oesophageal sphincter. Functional immaturity in infants.
184
What is the prognosis of reflux?
Resolves by 1 year due to maturation of lower oesophageal sphincter, upright position and more solids in the diet.
185
Who is at increased risk of severe GE reflux?
Neuromuscular problems
CP
Surgery to oesophagus or diaphragm
Preterm, bronchopulmonary dysplasia
186
How is GE reflux managed?
1. Upright positioning
2. Feed thickening with nestargel, carobel
3. omeprazole (PPI)
4. ranitidine (H2 receptor antagonist)
5. Surgery: Nissen Fundoplication, in which fundus is wrapped around the oesophagus.
Ix:
may need 24hr pH monitoring to investigate degree; endoscopy to identify oesophagitis/exclude other causes
187
Give 3 complications of GE reflux.
FTT from severe vomiting
oesophagitis - haematemesis, discomfort on feeding or heartburn, iron deficiency anaemia
recurrent pulmonary aspiration - pneumonia, cough/wheeze, apnoea if preterm
Sandifer syndrome: dystonic neck posturing
Apparent Life Threatening Events
188
What is pyloric stenosis and who is at most risk?
Hypertrophy of pyloric muscle causing gastric outlet obstruction.
2-7 weeks of age, boys (4:1), first-borns, FHx especially on maternal side.
189
Give 3 clinical features of pyloric stenosis.
Vomiting, increasing in frequency and forcefulness until projectile
Hunger after vomiting until too dehydrated to want to feed
Wt loss if presentation delayed
Hypochloaemic metabolic alkalosis with low plasma sodium and potassium as a result of vomiting stomach contents.
190
How is the diagnosis of pyloric stenosis confirmed?
TEST FEED: NG tube insertion and aspiration to empty the stomach, small feed of dioralyte, feel for gastric peristalsis from left to right and 'olive' pyloric mass in the RUQ.
Ultrasound can confirm dx if in doubt.
191
How is pyloric stenosis managed?
1. Correct fluid and electrolyte disturbance with IV fluids (saline, dextrose, KCl)
2. Pyloromyotomy
192
What is colic?
A term used to describe paroxysmal inconsolable crying or screaming, drawing up of the knees, flatus particularly in the evening.
Occurs in 40% of babies. First few weeks of life and resolves by 4 months.
Benign, but may precipitate NAI as so frustrating and worrying for parents.
193
How is colic managed?
It is benign but worrying to parents so deal with this. Give support and reassurance.
If severe and persistent consider CMPA or GER - empirical 2 week trial of whey hydrolysate formula followed by trial of anti reflux treatment.
194
What is the most common surgical cause of abdominal tenderness in children?
Appendicitis. High index of suspicion, dont delay rx as risk of perforation.
195
Give 3 extra-abdominal causes of abdo pain
```
URTI
Lower lobe pneumonia (referred pain)
TESTICULAR TORSION
hip and spine
therefore always check these things
```
196
Give 3 medical causes of abdo pain.
```
HSP
Sickle cell disease
Hepatitis
IBD
Constipation
Gynecological
Psychological
Lead poisoning
Nephrotic syndrome/liver disease --> ascites --> peritonitis
DKA
UTI
```
197
What is the typical age for appendicitis?
Children over 3 years old.
198
How does appendicitis present?
Variable - high index of suspicion eg in children already diagnosed with gastroenteritis/UTI, pre-school children in particular are easy to underestimate for appendicitis, and if the appendix is retrocoecal, localised guarding may be absent.
sx: Anorexia, vomiting, abdo pain starting central then localising to right iliac fossa due to localised peritoneal inflammation
Signs: flushed, halitosis, fever 37.2-38, abdo pain aggravated by movement, McBurney's point tenderness with guarding (RIF)
199
How is appendicitis diagnosed?
Progressive so monitor every few hours.
Neutrophilia
USS may support dx - thickened, non-compressible appendix with increased blood flow, or exclude other pathology.
Sometimes diagnostic lap but not routine.
Essentially clinical dx.
200
How is appendicitis managed?
Appendicectomy
If uncomplicated, straightforward.
If complicated (appendix mass, abscess or perforation), give fluid resus and IV abx first.
If no signs of peritonitis, may give IV abx and do appendicectomy weeks later.
201
What is the most common cause of failure to thrive?
Inadequate food intake (due to poverty in other countries, poor feeding here)
202
Give 3 dietary strategies for improving food intake
3 meals and 2 snacks a day
increase number and variety of foods offered
increase energy density of usual foods (eg add cheese, margarine, cream)
Decrease fluid intake, particularly squash
203
Give 3 behavioural strategies for improving food intake
Meals at regular times with other family members
Praise when food is eaten
Gently encourage child to eat, but avoid conflict and never force feed!
[Lissauer/ Wright 2000]
204
What is marasmus?
Weight/height less than 70%, wasted appearance (thin but not stunted). Due to severe protein-energy malnutrition. Often withdrawn and apathetic.
205
What is Kwashiorkor?
Severe wasting with generalised oedema due to severe protein malnutrition. The weight may not be severely reduced due to the oedema.
206
Give 3 signs of kwashiorkor.
'Flaky-paint' rash with hyperkeratosis (thickened skin) and desquamation
Distended abdo, enlarged liver (usually due to fatty infiltration
Angular stomatitis
Sparse, depigmented hair
Diarrhoea
Hypothermia
Bradycardia
Hypotension
Low albumin, potassium, glucose and magnesium
207
Which condition occurs in protein-energy malnutrition and is more common when infants are not weaned from the breast until 1 year, diet is high in starch, and/or following measles/gastroenteritis?
Kwashiorkor. Hyperkeratosis, oedema, diarrhoea.
208
How is severe acute malnutrition treated?
Correct hypoglycaemia
Correct hypothermia by wrapping
Correct dehydration with fluids but carefully because risk of HF
Correct electrolyte deficiencies, especially K
Abx as fever may be absent in infection. Treat oral thrush if present
Micronutrients: Vit A and others
Initiate feeding - small volumes, frequently, including through the night.
209
Which condition involves weight for height more than 3 SDs below the mean, with wasting and apathy?
Marasmus
210
What causes rickets? How is it different to osteomalacia?
Deficient intake/ Defective metabolism of Vit D -->
--> low serum calcium --> PTH secretion --> normalises serum calcium but GROWING bone/osteoid tissue fails to mineralise --> Rickets
Osteomalacia is failure of MATURE bone to mineralise.
211
How does vit D deficiency present?
Usually bone deformity, rickets
Hypocalcaemia - Seizures, neuromuscular irritability (tetany), apnoea, stridor. This is more common before 2 years and in adolescence, because high demand for calcium in rapidly growing bone results in hypocalcaemia before rickets.
212
What causes low phosphate and why is this a problem?
Vit D def --> low Ca --> more PTH.
| PTH causes renal losses of phosphate --> high PTH causes low phosphate. Low phosphate reduces bone calcification.
213
Give 3 causes of vitamin D deficiency.
Malabsorption - IBD, coeliac, CF
Drugs - phenobarbital, phenytoin - vit D metabolism impaired because they deplete renal and hepatic enzymes
Hepatic/renal disease - impaired Vit D metabolism
Nutritional - in the UK this is in Asian/Black infants exclusively breast-fed into late infancy.
214
Give 3 clinical features of rickets.
Craniotabes: ping-pong ball sensation of the skull when pressing on the occipital or posterior parietal bones.
Palpable constochondral junctions (rachitic rosary)
Widened wrists and ankles
Horizontal depression on lower chest (Harrison sulcus)
Bow-legged
215
What investigations would you do for ?rickets and what would they show?
Dietary hx for vit and Ca intake
Bloods - serum Ca low/normal, phosphorus low, 25-hydroxyvit D low, plasma alk phos high, PTH high.
X ray: wrist cupping, metaphysial fraying, widened epiphyseal plate.
216
What are the consequences of vit A deficiency?
Blindness
Eye damage: xerophthalmia, starts with night blindness, then corneal ulceration and scarring
Increased susceptibility to infection especially measles.
217
Give 3 complications of childhood obesity.
```
Slipped upper femoral epiphysis (SUFE)
Tibia vara (bow legs)
Abnormal food structure and function
IIH
Hypoventilation syndrome
Gallbladder disease
PCOS
T2DM
Hypertension
Abnormal blood lipids
Asthma
Malignancy
Psychological - depression, low self esteem
```
218
Give 3 endogenous causes of obesity. What would indicate these?
Short and obese: Hypothyroidism, Cushing syndrome (Tall --> overnutrition likely)
Prader-Willi syndrome - learning diasbility, dysmorphic, hyperphagia, poor linear growth, hypotonia, undescended testes.
Leptin deficiency - under 3 years
219
Give 2 drug treatments of obesity and when they would be used.
After dietary, exercise and behavioural approaches (NICE)
Orlistat - lipase inhibitor --> steatorrhea. Reduce fat intake to avoid GI side effects. Consider if fat intake high.
Metformin - consider if insulin insensitivity.
220
What is intussusception?
Telescoping of proximal bowel into a distal segment, usually ileo-caecal. Commonest cause of intestinal obstruction in infants after neonatal period.
221
Who is most at risk of intussusception?
3 months- 2 years.
222
Why is it important to identify intussusception?
Stretching and constriction of the mesentery results in venous obstruction, causing engorgement and bleeding from the bowel mucosa, fluid loss and subsequently bowel perforation, peritonitis and gut necrosis. Needs to be reduced and resuscitated.
223
What would you see on examination with intussusception?
```
Sausage shaped mass in the abdomen
Redcurrant jelly stool - blood stained mucus. late sign but characteristic.
Abdo distension
Shock
Vomiting
Colicky pain and pallor
```
224
How is intussusception managed?
Fluid resuscitation, paediatric surgeon involved
Radiological reduction with air.
If unsuccessful or perforation occurs (25%), operative reduction is done.
225
What is Meckel diverticulum?
An ileal remnant of the vitellointestinal duct which contains ectopic gastric mucosa or pancreatic tissue. Present in 2%.
226
How does Meckel diverticulum present?
Usually asymptomatic but can present with:
Severe rectal bleeding - may be lifethreatening
intussusception
Volvulus
Diverticulitis - mimics appendicitis.
227
How is Meckel diverticulum treated?
Surgical resection
228
What causes malrotation?
The mesentery not being fixed at the duodenogejunal flexure or ileocaecal region, or base is shorter than normal, during rotation of the small bowel in fetal life. Makes it predisposed to volvulus. Ladd bands may cross the duodenum and contribute to bowel obstruction there.
229
What investigation should you do in a child presenting with dark green vomiting?
Upper GI contrast study to assess intestinal rotation
| Vascular compromise? --> urgent laparotomy.
230
How is malrotation treated?
Operation to untwist the volvulus and broaden the mesentery (doesn't actually correct the malrotation). Also remove the appendix because they are likely to present in future with appendicitis-like sx so this reduces future diagnostic confusion.
231
What is the most common age of presentation with malrotation?
1-3 days of life, but can present at any age with obstruction.
232
Give 3 clinical features of malrotation other than green vomit.
Abdo pain
Tenderness from peritonitis or ischaemic bowel
May have vascular compromise as well- if this is present do urgent laparotomy.
233
What might be the cause of peri-umbilical pain in a child for at least 3 months?
This is recurrent abdo pain (RAP)
Affects 10% of school age childen
Cause not identified in >90%
Identifiable causes: IBS, abdominal migraine or functional dyspepsia.
234
What investigations would you do in a child with recurrent abdominal pain?
Try to avoid invasive tests.
Check growth
Urine microscopy and culture
+/- abdo USS for gallstones/PUJ obstruction
235
What is the likely diagnosis in a child with headaches, midline abdominal pain and vomiting?
Abdominal migraine.
236
What is irritable bowel syndrome (IBS)?
Disorder of altered gastrointestinal motility (very forceful contractions) and abnormal sensation of intra-abdominal events. Both of these factors are modulated by stress and anxiety.
237
Give 3 clinical features of IBS.
Abdo pain often worse before or relieved by defecation
Explosive, loose or mucousy stools
bloating
feeling of incomplete defecation
constipation, often alternating with normal or loose stools
238
Which organism predisposes duodenal ulcers?
H. pylori.
| Abdo pain, nausea
239
How is peptic ulceration treated?
PPI eg omeprazole
| If H.pylori on C13 breath test, amoxicillin + metronidazole/clarithromycin.
240
What is the likely diagnosis in a child with abdo pain, nausea, early satiety, bloating and postprandial vomiting?
Functional dyspepsia
| Treat with hypoallergenic diet
241
What is the most likely cause of gastroenteritis in the UK?
Rotavirus - 60% of cases in children <2 years of age
Particularly winter and early spring
There is a vaccine but it is not given nationally.
242
What is the most likely causative organism in a child with blood and pus in the stool, pain and tenesmus (cramping rectal pain)?
Shigella - high fever.
| Salmonella
243
What is the likely causative organism in someone with severe abdo pain, diarrhoea and bloody stool?
Bacterial (bloody)
| Campylobacter jejuni
244
What causative organism would you suspect in someone with profuse, rapidly dehydrating diarrhoea?
Cholera
| Enterotoxigenic E. Coli (ETEC)
245
Give 5 differentials for a child with abdo pain, vomiting and diarrhoea.
Gastroenteritis
Systemic infection - septicaemia, meningitis
Local infection - resp, otitis media, hep A, UTI
Surgical - Pyloric stenosis, intussusception, acute appendicitis, necrotising enterocolitis, hirschsprung disease
Metabolic - DKA
Renal - HUS
Coeliac
CMPI
Adrenal insufficiency
246
How is gastroenteritis treated?
Correct (ideally prevent) dehydration!
| ORT
247
When would you get hyponatraemic dehydration and what can be the result?
When children with diarrhoea drink large quantities of water/hypotonic solutions, so net loss of sodium, leading to hyponatraemic dehydration.
Leads to shift of water from extra- to intracellular compartments --> increase in brain volume --> convulsions.
Greater degree of shock per unit of water loss.
248
Give 5 red flag signs of shock from dehydration.
```
Decreased consciousness
Sunken eyes
Tachycardia
Tachypnoea
Reduced skin turgor
```
249
When would you get hypernatraemic dehydration?
If water loss exceeds sodium loss.
Due to high insensible water losses (fever, hot environment), or profuse, low-sodium diarrhoea.
ECF becomes hypertonic with respect to intracellular fluid --> water going extracellular --> brain shrinkage with rigid skull, jittery movements, increased muscle tone, seizures.
Masks symptoms of dehydration eg sunken eyes.
250
When would you do a stool culture in a child with symptoms of gastroenteritis?
Required if child appears septic, blood or mucus in stool, or immunocompromised.
Consider if recent foreign travel, diarrhoea not improved by day 7, or dx uncertain.
251
When would you do blood cultures in a child with gastroenteritis?
If abx are started.
252
Why must fluids be given slowly in hypernatraemic dehydration?
(0.5mmol/L/hr) because rapid reduction in plasma [Na+] and osmolality --> water into cerebral cells --> cerebral oedema.
253
Why are anti-diarrhoeal and anti-emetic drugs NOT used for gastroenteritis?
Ineffective, prolong excretion of bacteria in stools, side-effects, cost, attention should be on oral rehydration.
254
When are abx used in gastroenteritis?
Not all bacterial gastroenteritis - abx are only indicated for sepsis, extra-intestinal spread of bacterial infection, salmonella in <6 month old, malnourished, immunocomp.
Most organisms: ampicillin, co-trimoxazole.
C. diff (asso. pseudomembranous colitis) - vancomycin/metronidazole.
255
After gastroenteritis, introduction of normal diet may cause watery diarrhoea. What could have caused this?
Temporary lactose intolerance.
'Clinitest' will be positive for non-absorbed sugar in stools.
ORT again for 24h and try normal diet again.
256
What is the pathophysiology of coeliac disease?
The gliadin fraction of gluten provokes a damaging immunological response in the proximal small intestinal mucosa.
Shortening and eventual loss of villi leads to reduced surface area of mucosa and malabsorption.
257
How does coeliac disease present?
CLASSICAL:
8-24 months after introduction of gluten-containing foods to the diet.
Profound malabsorption with FTT, abdo distension, buttock wasting, abnormal stools, irritability.
NOW:
More likely to present in later childhood with mild GI symptoms, anaemia due to iron/folate deficiency, and growth failure.
Or identified on screening.
258
Who is screened for coeliac disease?
Increased risk: T1DM, autoimmune thyroid disease, Down syndrome, first degree relatives of individuals with known coeliac disease.
259
How is coeliac disease diagnosed?
IgA tissue transglutaminase (tTG) abs
Endomysial abs
Must be confirmed by endoscopy --> biopsy shows increased epithelial lymphocytes, villous atrophy and crypt hypertrophy.
Gluten withdrawal should resolve sx, if not then reconsider dx.
260
When is a gluten challenge indicated?
If initial biopsy or response to gluten withdrawal is doubtful, or when disease presents before age 2, do gluten challenge in later childhood to demonstrate susceptibility of SI mucosa to damage by gluten.
Positive result = serology becomes positive again.
261
What is the treatment for coeliac disease?
Lifelong gluten free diet.
262
What is toddler's diarrhoea?
Chronic non-specific diarrhoea. Commonest cause of persistent loose stools in preschool children.
Due to maturational delay in intestinal motility leading to intestinal hurry.
263
How does chronic non-specific diarrhoea present?
Diarrhoea with some well formed stools, some explosive and loose, undigested vegetables, children are well, no FTT or dietary factors causing the diarrhea.
264
How is chronic non specific diarrhoea treated?
Ensure child's diet contains enough fat, as this slows gut transit, and fibre.
Dont drink excessive fresh fruit juice as this can exacerbate symptoms.
Usually grow out of it by 5 yrs of age but fecal continence may be delayed.
265
What needs to be considered in chronic diarrhoea following bowel resection, cholestatic liver disease or exocrine pancreatic dysfunction?
Malabsorption.
266
Which is the more common type of IBD?
Crohn's disease 2:1 UC
267
Give 3 differences between Crohn's and UC.
UC: Colon only, continuous lesions, mucosal inflammation.
Crohn's: Any part of GI tract, usually terminal ileum and proximal colon. Skip lesions, RIF mass, cobblestone appearance, granulomas, transmural inflammation.
[Oxford]
268
How does Crohn disease present?
Mainly Lethargy, unwell
Classical GI sx of abdo pain, diarrhoea + wt loss but in reality these are often absent.
May be mistaken for psych problem or anorexia nervosa.
Growth failure, delayed puberty, oral lesions, uveitis, arthralgia, erythema nodosum
269
What investigations would you do for ?Crohns and what would they show?
Inflamm markers - raised platelets, ESR and CRP
Iron deficiency anaemia
Low serum albumin
Upper GI endoscopy, ileocolonoscopy and small bowel imaging are required.
Histology: Non-caseating epithelioid cell granuloma
Small bowel imaging: Narrowing, fissuring, mucosal irregularities, bowel wall thickening.
270
How is Crohn's managed?
1. Nutritional therapy - whole protein modular feeds (polymeric diet) 6-8 weeks.
2. Systemic steroids
3. Immunosuppressants: azathioprine, mercaptopurine, methotrexate
4. Anti-TNF agents: infliximab, adalimumab.
Surgery for complications
Long term supplemental enteral nutrition to correct growth failure
[Lissauer]
271
How does UC present?
```
Rectal bleeding
Diarrhoea
Colicky pain
+/- wt loss and growth failure
Erythema nodosum
Arthritis
```
272
What investigations would you do for ?UC and what would they show?
Endoscopy - continues lesion from rectum proximally. 90% of children have pancolitis, whereas in adults colitis is usually confined to distal colon.
Exclude infective colitis
Histology - mucosal inflammation, crypt damage, ulceration
Small bowel imaging to exclude Crohns
273
How is UC managed?
Mild: Aminosalicylates - balsazide, mesalazine.
Confined: Topical steroids
Aggressive/extensive: systemic steroids for flare ups, immunomodulatory therapy eg azathioprine for remission.
Severe UC is emergency - IV fluids and steroids, colectomy --> ileostomy.
274
Adenocarcinoma of the colon is more likely with which condition?
Ulcerative colitis. Screening 10 years from diagnosis.
275
Give 5 important differentials for a child with constipation and a red flag for each one.
Hirschsprung - failure to pass meconium with 24h of life, gross abdo distension
Hypothyroidism, coeliac - failure to thrive
Lumbosacral - lower limb neuro sx/deformity eg incontinence, talipes
Spina bifida - sacral dimple, abnormalities over the spine
Anorectal - non patent or abnormal anus
Sexual abuse - perianal bruising
Crohn disease - perianal fistulae/fissure/abscesses
[Lissauer]
276
How is acute constipation managed in children?
Usually resolves spontaneously or with the use of mild laxative and extra fluids.
277
What causes overflow incontinence in children?
Long-standing constipation can lead to overflow incontinence as the contractions of the full rectum inhibit the internal sphincter, leading to overflow.
278
A child has long standing constipation with faeces palpable in the abdomen. Describe the management.
1. Macrogol laxative eg movicol + electrolytes
2. stimulant laxative eg senna, +/- osmotic laxative eg lactulose
3. Consider enema or manual evacuation under anaesthetic by paediatric specialist.
After each step, see if stool was passed, if so then just maintain balanced diet and fluids, and maintenance laxatives.
279
What is the definition of constipation?
Infrequent passage of stool associated with pain and difficulty or delay in defaecation.
Should be at least 1 stool a day for infants, 3 a week for school age.
280
When would you do a PR exam on a child?
ONLY if you're a specialist paediatrician and there is pathology suspected.
281
What is the pathophysiology of Hirschprung's disease? (HSD)
Failure of ganglion cells to migrate into hindgut --> absent myenteric and submucosal plexuses --> absence of co-ordinated bowel peristalsis and functional obstruction at the 'transition zone' between the normal and aganglionic bowel. This is usually (80%) in the distal colon but in 20% the entire colon is involved.
FHx, Tri 21
(rare: 1 in 5,000)
282
How does Hirschsprung's disease present?
Usually low intestinal obstruction in first few days of life with failure to pass meconium, then abdo distention, bilious vomiting.
Short segment disease may present in childhood with chronic constipation and growth failure.
283
How is Hirschprung's diagnosed?
AXR shows distal intestinal obstruction
Rectal biopsy demonstrated absence of ganglion cells in the submucosa.
Rectal examination - narrowed segment and gush of liquid stool and flatus.
284
How is Hirschprung's managed?
Recent: single stage Pull-through surgery (bringing aganglionic bowel to anus). Intestinal obstruction managed with rectal washouts.
Traditional: 3 stage procedure with defunctioning colostimy, pull through procedure, then closure of colostomy
285
What are the sequelae of HSD?
'Hirschsprung enterocolitis' - abdo distention, bloody watery diarrhoea, circulatory collapse, septicaemia. Usually C diff. Mortality 10%.
After surgery, 5% may never gain bowel control and need a stoma. 15-20% still have partial loss.
286
Give 5 clinical signs of liver disease.
```
Cholestasis - fat malabsoprtion, deficiency of fat-soluble vits (Rickets), pruritus, pale stools, dark urine
Jaundice
Ascites
Clubbing
Spider naevi
Coagulation: Bruising, petechiae, epistaxis
Splenomegaly/hepatomegaly
Varices with portal hypertension
Hypotonia, encephalopathy
```
287
What is prolonged neonatal jaundice?
Jaundice at over 2 weeks of age (3 if preterm). Usually unconjugated hyperbilirubinaemia which resolves spontaneously. Most common presentation of liver disease in neonates.
288
What can cause jaundice in the first 24 hours of life?
```
Always unconjugated (and therefore extrahepatic) bilirubinaemia and always worrying bc of kernicterus.
Haemolytic disease of the newborn
Hereditary spherocytosis
G-6-PD deficiency
Sepsis
Cephalohematoma
TORCH infections
Crigler-najjar syndrome (no UGT enzyme)
```
289
What can cause jaundice after 14 days?
```
Serum bilirubin >25-30mmol/L
Unconjugated (extrahepatic cause):
breastmilk, infection eg UTI, hypothyroid, GI obstruction
Conjugated (hepatobiliary cause):
Bile duct obstruction - biliary atresia
Neonatal hepatitis syndrome
Intrahepatic biliary hypoplasia
Gilbert syndrome
Galactosaemia
```
290
What is intrahepatic cholestasis and what causes it?
Hepatocyte damage +/- cholestasis (The problem is IN the liver.)
Causes unconjugated +/- conjugated hyperbilirubinaemia.
Causes: infection eg hepatitis
Toxic eg paracetamol overdose, valproate
Metabolic eg Wilsons, A1ATdef, hypothyroid
Biliary hypoplasia
Cardio eg budd-chiari, right heart failure
Autoimmune hepatitis
[Oxford]
291
What could cause pale stools and persistent conjugated jaundice?
```
Pale stools suggests bile duct obstruction =Obstructive/cholestatic jaundice.
Causes:
Biliary atresia
PSC (asso IBD)
Cholelithiasis
Cholecystitis
CF
Choledochal cyst
```
292
What is biliary atresia?
Destruction or absence of extrahepatic biliary tree and intrahepatic biliary ducts, causing progressive bile duct obstruction (cholestasis), chronic liver failure and death if untreated.
293
How does biliary atresia present?
Normal birthweight baby but fails to thrive as disease progresses
May get jaundice at birth (unconjugated) but then jaundice-free, develop progressive conjugated jaundice at 8 weeks.
Pale stools, dark urine
Hepatomegaly, + splenomegaly if portal hypertension.
LFTs show elevated GGT, ALP, AST and ALT (nonspecific)
294
How is biliary atresia diagnosed?
Fasting abdo USS - contracted or absent gallbladder.
Radioisotope scan with TIBIDA (iminodiacetica acid derivatives) shows good uptake by the liver but no excretion into the bowel.
Liver biopsy - extrahepatic biliary obstruction.
Confirmed at laparotomy by operative cholangiography which fails to outline a normal biliary tree.
295
How is biliary atresia treated?
Kasai portoenterostomy - anastamosing the jejunum with the porta hepatis, facilitating drainage of bile from ductules.
Most effective before 60 days of age, so early dx and rx essential.
Post-op complications: cholangitis, malabsorption (fats and vits ADEK), cirrhosis, portal hypertension.
If unsuccessful, liver transplant is usually curative, and biliary atresia is the most common indication for paediatric liver transplant.
[Lissauer]
296
What is neonatal hepatitis syndrome and what features would suggest it?
Prolonged neonatal jaundice - intrauterine growth restriction, failure to thrive, itchy rash, dark urine and hepatosplenomegaly.
Liver biopsy shows giant cell hepatitis - Multinucleated giant cells & Rosette formation.
Deranged LFTs
Conjugated and unconjugated hyperbilirubinaemia.
297
Give 3 causes of neonatal hepatitis syndrome.
Congenital infection, a-1at deficiency, galactosaemia, prolonged parenteral nutrition, inborn errors of bile acid synthesis, PFIC
298
Which enzyme deficiency is associated with liver disease in infancy and pulmonary disease in later life?
A-1 antitrypsin deficiency. This is a protease. PiZZ phenotype (chromosome 14 protease inhibitor).
299
What is the inheritance pattern of alpha 1 antitrypsin deficiency?
Autosomal recessive.
300
What would you consider in an older child with abdominal pain, palpable mass and jaundice?
choledochal cyst. Cystic dilatation of the extrahepatic biliary system.
301
How does a1-antitrypsin deficiency present?
Prolonged neonatal jaundice and hepatomegaly.
Less commonly - haemorrhagic disease of the newborn due to vitamin K deficiency.
Splenomegaly develops with cirrhosis and portal hypertension.
Can be diagnosed antenatally
302
What is galactosaemia?
Rare (1 in 40,000) deficiency in galactose-1-phosphate uridyltransferase (GALT) involved in the metabolism of galactose (lactose breakdown into galactose).
Causes poor feeding, vomiting, jaundice and hepatomegaly when fed milk. Can quickly become gram negative sepsis with shock, haemorrhage and DIC.
Consider in a neonate with E. Coli sepsis or cataracts
Rx is dairy free diet for mum and baby.
303
How is galactosaemia diagnosed? How is it treated?
Measuring galactose-1-phosphate-uridyl transferase in the red cells. Recent blood transfusion may mask the diagnosis.
Treat with dairy free diet for mum and baby.
304
Which rare condition should be considered in a child with neonatal cholestasis of infancy, normal GGT and elevated cholenoic bile acids in urine?
Inborn errors of bile acid synthesis. Dx confirmed by mass spec of urine for bile acids.
305
Which rare condition should be considered in a child with jaundice, intense pruritus, diarrhoea, failure to thrive, rickets and liver disease?
Progressive familial intrahepatic cholestasis (PFIC). These are bile transporter defects caused by recessive mutations. GGT may be low.
306
Which syndrome may be present in someone with triangular face, skeletal abnormalities, congenital heart disease and intrahepatic biliary hypoplasia with severe pruritus and failure to thrive?
Alagille syndrome. Autosomal dominant.
| Down syndrome can also cause intrahepatic biliary hypoplasia.
307
How does viral hepatitis present? What would you look for on examination?
Nausea, vomiting, abdo pain, lethargy, +/- jaundice (50%).
| Hepatomegaly, tenderness. Splenomegaly in 30%.
308
What happens to liver transaminanses in viral hepatitis?
Markedly elevated.
309
How is Hep A transmitted?
Faecal-oral.
310
How is Hep A diagnosed?
IgM antibodies.
311
How is Hep A managed?
No treatment, just give close contacts HNIG or vaccination within 2 weeks.
312
Which of the hepatitises are RNA viruses and which are DNA viruses?
RNA: A, C, D, E
DNA: B
(So all RNA except B.)
313
Which hepatitis strain is more likely in someone from Africa, the East and South America?
Hep B.
314
How do you get chronic hepatitis B and what are the complications?
30-50% of children who got HBV from their mothers in childbirth will get chronic HBV liver disease. 10% of these progress to cirrhosis, and there is a risk of hepatocellular carcinoma.
315
How does hep B affect infants infected by vertical transmission?
Infants asymptomatic
90% become chronic carriers.
older children may have acute hepatitis.
1-2% develop fulminant hepatic failure.
316
How is HBV diagnosed?
HBV antigens and antibodies.
IgM abs to anti-HBc are positive in acute infection only
Positivity to HBsAg (surface antigen) denotes ongoing infection.
317
Describe the transmission modes of hepatitis viruses.
A, E: faecal oral
B and C: MTCT, Blood, Horizontal spread within families, Renal dialysis, Sexually transmitted
D: dependent on B.
G: parenteral.
318
Which strain of hepatitis only occurs with HBV infection?
Hep D
319
Which strain of hepatitis is endemic in India?
Hep E.
320
How is chronic hep B treated?
Interferon - 30% effective
Oral antivirals - lamivudine, 23% effective, limited by resistance.
New drugs - adefovir, long acting interferon may be more effective.
321
How is HBV prevented and why is this important?
Prevention: antenatal screening for HBsAg, if positive, baby receives hep B vaccination with hep B IG if mum is HBeAg positive.
Ab response should be checked in high risk infants as 5% require further vaccination. Vaccinate whole family.
This can reduce HBV-related cancer and cirrhosis.
322
Which hepatitis strains increase the risk of cirrhosis?
B, C and D.
323
What constitutes acute liver failure in children?
Massive hepatic necrosis, loss of liver function. Uncommon but high mortality.
Also known as fulminant hepatitis.
324
What 3 conditions causes most cases of acute liver failure in children?
Paracetamol overdose, non-A-G viral hep, metabolic conditions eg Wilsons.
[Lissauer]
325
How does acute liver failure present in children?
Hours or weeks onset
Jaundice, encephalopathy, coagulopathy, hypoglycaemia, electrolyte disturbance.
Complications include cerebral oedema, haemorrhage, sepsis and pancreatitis.
326
How would you confirm the diagnosis of acute liver failure?
```
LFTs:
Transaminases 10-100x higher than normal
Increased alk phos
Abnormal coagulation
Raised plasma NH3
Monitor acid-base balance, glucose and coagulation times.
EEG - acute hepatic encephalopathy
CT - cerebral oedema.
```
327
How would you manage liver failure?
IV dextrose - aim for >4mmol/L glucose
Broad spec abx + antifungals to prevent sepsis
IV vit K, FFP or cryoprecipitate and PPIs to prevent haemorrhage.
Treat cerebral oedema by fluid restriction and mannitol diuresis
Specialist liver unit.
328
Why don't we give aspirin to children under 12?
Risk of Reye syndrome - acute non-inflammatory encephalopathy with microvesicular fatty infiltration of the liver.
329
What is Wilson disease?
An autosomal recessive disorder with incidence of 1 in 200,000. Genetic defect causes reduced synthesis of caeruloplasmin (copper-binding protein) and defective excretion of copper in liver, brain, kidney and cornea.
330
How does Wilson disease present and in what age group?
Over the age of 3
Children: liver disease. (Older: neurological)
Renal tubular dysfunction, vit-D resistant rickets, haemolytic anaemia.
Kayser-Fleischer rings due to copper accumulation in the cornea after 7 years of age.
331
How is Wilson disease diagnosed?
Low serum caeruloplasmin and copper
High urinary copper - more so after penicillamine administration (a chelating agent).
These are not reliable so dx confirmed by biopsy which shows elevated hepatic copper, or gene mutation identification.
332
How is Wilson disease treated?
Penicillamine or trientine - these promote urinary copper excretion, reducing hepatic and CNS copper.
Zn - reduces copper absorption.
Pyridoxine - prevent peripheral neuropathy.
Death from hepatic complications if untreated.
333
What is the most common type of groin hernia in children?
Indirect inguinal hernia, right side because the right testis descend later in boys. Usually asymptomatic. Due to patent processus vaginalus.
334
How is an inguinal hernia identified and treated?
Reducible swelling in groin, can't get above it. Treat infants with surgical herniotomy within a few weeks of diagnosis to prevent incarceration. Risk of incarceration decreases after 1 year of age.
335
What are the complications of an incarcerated hernia?
Intestinal obstruction
Testicular infarction due to pressure on the gonadal vessels
If irreducible, resuscitate and reduce using taxis: pressure on the sac.
May need morphine first.
Then herniotomy after 24-48hr to allow for oedema to settle.
336
What is a hydrocele and how is it different from a hernia?
Peritoneal fluid tracks down a patent processus vaginalis to form hydrocele around the testis. If the processus vaginalis was wider, it would cause a hernia.
More often bilateral, sometimes bluish, transilluminate, non-tender.
337
How is UTI defined?
Dysuria, frequency, loin pain + detection of significant culture of organisms in the urine. This is any growth on a culture of suprapubic aspirate as this should be sterile, or >10^5 organisms/mL growth from a MSU/CCU/bag urine.
(90% specific for UTI)
Can be complicated (including pyelonephritis) or uncomplicated.
[oxford]
338
How does UTI present?
```
Nonspecific especially the younger the child is, so always do a urine sample in children with unexplained fever.
Vomiting
Diarrhoea
FTT/poor feeding
prolonged neonatal jaundice
```
339
What investigations would you do for ?UTI?
Examine for abdo masses, congenital abnormalities and neuropathic bladder.
Plot height and weight on growth chart
BP
Urine dipstick test - leucocytes and nitrites.
Send for MC+S
340
In a child under 3 months, what is the most common organism for UTI and what is the treatment?
```
Usually E. Coli most common followed by Klebsiella, pseudomonas, strep faecalis.
Antibiotics:
always IV (eg cefuroxime) if <3 months
```
341
What are the main complications of UTI?
SEPSIS, Pyelonephritis
50% will have structural abnormality of urinary tract. Consider USS
Ask about urinary stream in boys and family history of VUR/ urinary tract abnormality. Pseudomonas suggests structural abnormality.
Proteus infection more common in boys, predisposes to phosphate stones by splitting urea to ammonia and therefore alkalising the urine.
342
What is pyelonephritis?
Upper urinary tract infection, can be defined at bacteriuria and fever >38 degrees/loin pain/tenderness.
[Lissauer]
343
How does pyelonephritis present?
Abdo pain, fever, systemic involvement, vomiting, haematuria, dysuria
344
What are the complications of pyelonephritis? How do you investigate for these?
Renal failure
Damage to the growing kidney by forming a scar, predisposing to HTN and chronic renal failure if the scarring is bilateral. Do a DMSA 3 months after the UTI.
AKI if bilateral
345
In a child over 3 months, how would pyelonephritis be treated?
IV (eg cefotaxime) for 2-4 days then oral 10 days
| Or oral abx (eg co-amoxiclav) for 7-10 days.
346
What puts an infant at increased risk of pyelonephritis?
Intrarenal vesicoureteric reflux
| [Lissauer]
347
What is vesicoureteric reflux (VUR)?
Vesicoureteric reflux (VUR) is retrograde flow of urine from the bladder into the upper urinary tract.
348
What are the important complications of VUR?
Ureteric dilatation leads to urine returning to the bladder from the ureters after voiding --> incomplete bladder emptying, encourages infection (pyelonephritis esp if intrarenal reflux) --> progressive renal scarring, renal failure, htn.
Bladder voiding pressure is transmitted to the renal papillae, this may contribute to renal damage if voiding pressures are high.
349
What causes VUR?
Usually congenital but can occur post-surgery. Incidence in 1% in newborns and is observed in 30-45% of children <5 yrs presenting with UTI. Family history - ask about siblings. Part of antenatal screening.
[Oxford]
350
What is the international reflux study grading system?
Grades VUR:
I: ureter
II: ureter, pelvis, calyces
III: + dilatation
IV: + dilatation of ureter and/or pelvis and/or blunting of fornices
V: gross dilatation, no papillary impression visible in calyces.
351
How is VUR diagnosed?
MCUG (micturating cytourethrogram). radiocontrast medium into bladder via urinary catheter, reflux detected on voiding. Radiation.
Indirect cystogram - MAG-3 and DTPA scans. Lower radiation but more false negatives found
352
What is enuresis?
Urinary incontinence. Can be primary (never dry at night) or secondary (relapse after a period of dryness).
353
What causes noctural enuresis?
Organic causes uncommon but include UTI, constipation, polyuria from osmotic diuresis eg DM, or chronic renal failure.
Risk factors:
Males more than females
Genetically determined delay in acquiring sphincter competence - 2/3 of children with enuresis have 1st degree relative.
Interference in learning to become dry at night, due to stress.
354
How is nocturnal enuresis managed?
1. Explain that this is a common problem beyond conscious control. Don't punish the child but use praise/star chart for dry bed.
2. Enuresis alarm - wake the child when pants become wet. They make bed and go to the toilet.
3. Desmopressin for short term relief - works like ADH.
After the age of 4, it only resolves in 5% each year. Treatment is rarely undertaken before 6 years.
355
What are the main causes of proteinuria in children?
Orthostatic proteinuria - benign.
| Glomerular abnormality: Nephrotic syndrome (MCD), glomerulonephritis.
356
What is nephrotic syndrome and how does it present?
Heavy prOteinuria --> hypOalbuminaemia and Oedema. +hyperlipidaemia.
Periorbital oedema is the earliest sign.
Scrotal/vulval/leg/ankle oedema, ascities, shortness of breath due to pleural effusions and abdominal distension.
Can be steroid-sensitive (SS) or steroid resistant (SR). Most are SS and due to minimal change disease (MCD).
357
Name 5 initial investigations you would do if you suspect nephrotic syndrome?
```
Urine dipstick
FBC
ESR
U+E, creat, albumin
Urine MC+S
Urine Na
Hep B and C screen
Malaria screen if travel abroad.
```
358
What is the immediate treatment for nephrotic syndrome?
Admit
Fluid restriction (to treat oedema) to 1L a day
+/- diuretics: furosemide/spironolactone
Steroids to induce remission - oral pred high dose and weaning down.
Prophylaxis with oral penicillin V and pneumococcal vaccine
359
What are the important complications of nephrotic syndrome and how are they prevented?
Impaired immunity, decreased IgG and impaired opsonization due to steroids --> risk of infection, esp strep pneumoniae. IV abx.
Hypovolaemia --> oligouria, hypotension --> human albumin and furosemide. Also acute renal failure.
Hypercoagulable state --> thrombosis
360
What is minimal change disease?
Fusion of the podocytes of the glomeruli, causing impaired filtration and nephrotic syndrome. Called MCD because the damage can only be seen under an electron microscope.
361
Why is consanguinity relevant in a child with oedema?
Congenital nephrotic syndrome.
Usually recessive, finland.
Asso consanguinity in the UK
rare bus asso with hypoalbuminaemia -> death or dialysis.
362
What are 3 important causes of haematuria?
```
Non-glomerular:
Infection
Trauma
Stones
Tumours
Sickle cell
Bleeding disorders
Renal vein thrombosis
hypercalciuria.
Glomerular:
Glomerulonephritis
IgA nephropathy
```
363
What could cause brown urine and proteinuria?
Glomerular haematuria due to glomerulonephritis.
| IgA nephropathy and Alport syndrome also cause glomerular haematuria but not proteinuria.
364
Give 3 causes of acute nephritis.
Most common: post infection eg strep (resp infection, sore throat).
Vasculitis - HSP most common. Also SLE, GPA, MPA, PAN
IgA nephropathy (Berger's disease)
Goodpasture syndrome - antiglomerular basement membrane disease
365
What is nephritic syndrome?
```
Glomerulonephritis causing:
Haematuria
Proteinuria (milder than in nephrotic)
Hypertension
Oliguria
Urinalysis shows red cell casts indicating glomerular damage.
Due to post-infectious glomerulonephritis or IgA nephropathy (Berger's disease).
[Geekymedics, Oxford]
```
366
How is acute nephritis managed?
Admission - life threatening complications include htn --> seizures, hypocalcaemia, acidosis, hyperkalaemia
Water and electrolyte balance
+/- diuretics
Hypertension - a-blocker, CCB. NOT ACEI as this may worsen renal function.
367
How do you diagnose post-streptococcal glomerulonephritis?
Haematuria, proteinuria, hypertension and oligouria 2 weeks after sore throat/URTI/skin infection.
Evidence of recent strep infection using culture of the organism and raised ASO/Anti-DNAse B titres
Low complement C3 levels that return to normal after 3-4 weeks
368
What is HSP?
Henoch-Schonlein purpura is a group of features, can be remembered as HSP:
Haematuria (Ig A nephropathy)
Skin rash - purpura, legs, buttocks
Periarticular oedema, Pain in joints and abdomen
Most common in prepubertal boys
Occurs in susceptible children after infection with a virus or group A strep.
3-10 yr old.
369
How is HSP managed?
Supportive treatment, resolves within 6 weeks. can use NSAIDs for arthritis.
However be aware of complications:
Test for haematuria in case of nephritis - worse prognosis for htn and decreased renal function so may want to treat with steroids (prednisolone)
Intussusception
Arthritis
[Oxford, youtube]
370
What is SLE?
A complex, multisystem autoimmune disorder affecting mainly afro-carribean, hispanic and asian females of childbearing age (so including adolescent girls).
371
Give 4 features that would allow a diagnosis of SLE.
```
Need 4 out of the following 11 features of the ARA criteria:
Malar rash
Discoid rash
Photosensitivity
Mouth ulcers
Arthritis
Serositis (pleurisy/pericarditis)
Renal - proteinuria or cellular casts
Neurological - seizures/psychosis
Haematological - anaemia/leucopaenia/thrombocytopaenia
Immunological - raised anti DNA binding ab, anti smith, anti phospholipid.
Antinuclear antibody (ANA 99% sensitive)
```
372
How is SLE managed?
```
Avoid sun exposure and use sunscreen,
treat htn,
minimise CVS risks,
ACE inhibitors for nephroprotection for proteinuria,
NSAIDs for msk symptoms,
Hydroxychloroquine for fatigue, rashes and arthritis,
Prednisolone
Immunosuppressants eg azathioprine
[oxford]
```
373
What is acute renal failure?
Sudden reduction or cessation of renal function to the point where body fluid homeostasis is compromised, leading to accumulation of nitrogenous waste products +/- oligouria.
[Oxford]
The severe end of the spectrum of AKI.
[Lissauer]
374
What is the most common cause of acute renal failure in children?
Pre-renal: Commonest cause in children. Hypovolaemia due to gastroenteritis, sepsis, nephrotic syndrome, or circulatory failure.
Renal: salt and water retention, HUS, glomerulonephritis, pyelonephritis
Postrenal: Urinary obstruction eg posterior urethral valve, blocked catheter.
[Lissauer]
375
How is acute renal failure managed?
Depends on cause but usually hypovolaemia.
Fluid balance - avoid acute tubular necrosis in hypovolaemia, restrict fluid + give furosemide in circulatory overload.
USS in case of obstructive cause, Small kidneys in chronic renal failure, large kidneys in acute process.
Dialysis indicated for severe electrolyte imbalance, acidosis or multisystem failure.
[Lissauer]
376
Which condition is suggested by acute renal failure, microangiopathic haemolytic anaemia and thrombocytopaenia?
Haemolytic uraemic syndrome (HUS).
377
What causes HUS?
There are 2 forms, atypical (not diarrhoea-associated) and epidemic (diarrhoea-associated - children)
The latter is usually due to EHEC producing verotoxins or shiga toxins (VTEC/STEC) which enter the GI mucosa, spread to the kidney, and cause intravascular thrombogenesis. This sets off the coagulation cascade, platelets are consumed (thrombocytopaenia), RBCs are damaged by hitting the platelets (anaemia). thats why platelet infusion would make it worse.
378
How is HUS managed?
Self-limiting - supportive +/- dialysis
Follow up as there may be persistent proteinuria and development of htn and declining renal function in subsequent years.
379
How would you identify chronic renal failure in a child?
Rare.
Anorexia, lethargy, polydipsia, polyuria, FTT, bony deformities from 'renal rickets;, htn, proteinuria, normochromic normocytic anaemia.
380
What are the main causes of chronic renal failure in children?
```
Usually congenital.
Structural malformations (40%)
Glomerulonephritis (25%)
Hereditary nephropathies (20%)
Systemic diseases (10%)
```
381
How is chronic renal failure managed in children?
Metabolic corrections - salt, water
encourage growth with calories, sometimes NG feeding, as anorexia and vomiting are common.
Prevention of renal osteodystrophy - there is decreased activation of vit D --> phosphate retention, hypocalcaemia --> hyperparathyroidism --> osteomalacia.
Restrict phosphate by decreasing dietary intake of milk products, caCO3 as phosphate binder, and activated vit D supplements to help prevent renal osteodystrophy.
[Lissauer]
382
What is Alport syndrome and how does it present?
An X-linked recessive disorder which can cause haematuria in females and progressive nephritis and sensorineural deafness in males.
383
What is hypospadias?
Failure of urethral tubularisation leaving the urethral opening proximal to the normal meatus on the glans. Affects 1 in 200 boys and may be increasing.
384
What are the complications of hypospadias?
If glanular (almost at tip) it is only cosmetic. If more proximal, this may cause problems with micturition and erection, GU anomalies and disorders of sexual differentiation.
385
How is hypospadias treated?
Correction under 2 years of age to produce a terminal urethral meatus, straight erection and normal-looking penis.
Circumcision should be avoided as the foreskin is often needed for later reconstructive surgery.
386
Give 3 syndromes associated with renal malformations.
1. Fanconi anaemia
2. Patau syndrome (tri 13)
3. Edwards syndrome (tri 18)
387
Describe the pathophysiology of eczema.
1. Allergy-mediated inflammation
(An allergen eg pollen triggers production of IgE antibodies. These bind to mast cells and basophils - this process is called sensitisation
On second exposure eg to pollen, the mast cells and basophils undergo 'degranulation' producing histamines.)
2. Inflammation makes the skin barrier more permeable to the allergen and allows more water to escape, so the skin becomes more dry and scaly
3. Itching -
scratching it causes more damage, worsening skin permeability and therefore increasing inflammation.
388
Describe the presentation of the rash in eczema, and what other features may be present?
Dry, red, itchy and sore patches of skin over the flexor surfaces (the inside of elbows and knees) and on the face and neck, extensors in babies.
Triggered by smoke, mould, dust mites.
Worst at night, scratching
389
What is the management for eczema?
Maintain the skin barrier
Reduce itching
Reduce skin dryness - emollients (thin creams eg e45, and thick ointments eg paraffin)
Reduce inflammation - manage stress, avoid triggers, special soap
Flares: add
wet wraps
topical steroids (steroid ladder)
390
What is the atopic triad?
Atopic Eczema
Asthma
Allergic rhinitis
391
What are the 2 important infections that can occur in eczema and how would you diagnose them?
Eczema herpeticum - HVS-1 infection. Widespread vesicular erythematous itchy rash, fever, lethargy, reduced oral intake. Viral swabs of vesicles.
Opportunistic bacterial infection - usually staph aureus. No systemic sx.
392
List the topical steroids from least to most potent.
Hydrocortisone
Eumovate
Betnovate
Dermovate.
393
How is HSV treated?
Acyclovir.
394
How is staph aureus treated?
Flucloxacillin.
395
What can cause a cough, impaired concentration, red, itchy eyes and can be life-threatening in children?
Allergic rhinitis/rhinoconjunctivitis
| Can get postnasal drip --> 'cough-variant rhinitis'
396
How is allergic rhinitis treated?
```
Avoid triggers
Identify triggers using skin prick test
Antihistamines
Topical corticosteroid nasal or eye preparations
Cromoglycate eye drops
Montelukast (LRA)
Nasal decongestants (rebound effect after 7 days)
NOT systemic corticosteroids.
```
397
What are 5 signs of anaphylaxis?
Urticaria, Itching, Swelling of lips, tongue, eyes (angioedema), Wheeze, Stridor (laryngeal involvement), Shortness of breath, Tachycardia, Abdominal pain, Collapse, hypotension.
398
How is anaphylaxis managed?
```
ABCDE
IM adrenaline (epi pen)
IV fluids
IV hydrocortisone
Oral antihistamines
Measure tryptase
```
399
What is the most likely cause of anaphylaxis in a child?
Food allergy in which IgE- mediated reaction causes significant resp or cardiovascular compromise.
400
Give 3 risk factors for fatal outcome in anaphylaxis
Adolescent age group
Nut allergy
Coexistent asthma
(anaphylaxis occurs more in children but is more fatal in adolescents with nut allergy)
401
What can cause the appearance of scalded/burned skin in a child? Give 3.
1. An actual burn!
2. Accidental/nonaccidental
Bacterial: Staphylococcal scalded skin syndrome (<5, sore throat)
3. Hypersensitivity: Stephens johnson syndrome/ toxic epidermal necrolysis. (recent anticonvulsants or abx)
402
What is stephens johnson syndrome/TEN and what are 3 triggers?
Type IV hypersensitivity reaction in which T cells attack the epithelial cells of the mucosa and skin, causing a scalded appearance.
Caused by abx: penicillins, sulphonamides
anticonvulsants: phenytoin, carbamazepine
NSAIDs
Infections - CMV, M. pneumoniae
403
What is Nikolsky sign and what does it indicate?
Areas of epidermis separate on gentle lateral pressure. Present in SSSS and TEN/SJS.
404
What is scalded skin syndrome?
S. aureus produces exfoliative toxin which breaks down proteins that hold skin cells together. Child <5 years with sore throat, fever, and scalded skin.
405
How is TEN treated?
Burn/IC unit
stop triggering medications/ treat triggering infection
IVIg
406
How is SSSS treated?
```
IV abx - flucloxacillin for SA
topical fusidic acid
Fluids and electrolytes (consider burns unit)
Analgesia with paracetamol.
PTS
```
407
What is urticaria?
A raised (papular) rash aka hives - similar to nettle sting.
Histamine release, localised vasodilatation and increased capillary permeability
Acute <6 weeks.
Chronic > 6 weeks
408
What are the main causes of urticaria?
1. (idiopathic)
2. Post viral infection
3. Allergens
4. Physical: cold, heat, vibration.
409
What is angioedema and what are the causes?
Variant of urticaria with swelling of soft/subcutaneous tissues: lips and eyes.
May occur post-viral, triggers eg allergens/physical, hereditary AD C1-esterase inhibitor deficiency.
410
What is the management of urticaria?
Antihistamines. Pred if severe. avoid triggers. Anaphylaxis risk with angioedema.
411
What is the management of severe angioedema?
```
Facial oxygen
IM adrenaline
IM/IV hydrocortisone
Nebulised salbutamol
!risk anaphylaxis.
```
412
What can cause skin coloured papules with central dimpling?
Molluscum contagiosum is a type of poxvirus which causes small, skin coloured, papules with central umbilication (dimple).
Preschool children with atopic eczema.
CONTAGIOUS (its in the name!)
413
How is molluscum contagiousum treated?
Self-resolves in a year.
If problematic, treat associated eczema, cryotherapy, curettage, benzoyl peroxide, topical wart medications like salicylic acid.
[Oxford, PTS]
414
What is a macule/ macular rash? What could cause this?
Flat discolouration. Macular rash would be a flat rash.
415
What is a nodule? Give 1 cause.
```
Circular elevated solid lesion >10mm.
Rheumatic fever (the N in Jones criteria is for nodules)
```
416
What is a papule? What is a papular rash?
Small superficial solid bump <5mm. A papular rash is therefore raised.
417
What could cause a scaly raindrop-like rash on the trunk in a 4 year old?
Psoriasis - this is autoimmune (HLA-B13 association). Abnormal T cell activity stimulates keratinocyte proliferation.
418
What could cause a golden crusty rash around the mouth?
Impetigo - staph aureus toxin breaks down protein that holds skin cells together forming golden crust. (aureus means gold).
less commonly strep pyogenes.
419
Give 3 causes on a non-blanching rash.
```
Meningococcal septicaemia (n. meningitidis - gram -ve diplococcus causes DIC and haemorrhages).
ALL
Bleeding disorder
ITP
HSP
Raised SVC pressure (cough/vomiting)
NAI
```
420
What is Kawasaki disease, and how would you make the diagnosis?
Medium sized vessel vasculitis.
Think CRASH and burn:
Persistent high fever >5 days + 4 of:
Conjunctivitis (bilateral red eyes), Rash, Adenopathy, Strawberry tongue, Hands (erythema, swelling)
421
How is Kawasaki disease treated?
Aspirin (!Reye syndrome - monitor)
IVIg within 10 days of presentation
Echocardiogram to check for coronary aneurysms.
422
How is meningococcal infection managed?
```
Usually caused by neisseria meningitides, a gram -ve diplococcus bacteria.
IM benzylpenicillin and ambulance.
in hosp:
Blood culture, meningococcal PCR
LP
<3 months: cefotaxime + amoxicillin
>3 months: ceftriaxone or cefotaxime
Dexamethasone to reduce frequency and severity of hearing loss and neurological damage.
```
423
What will the CSF show in meningococcal meningitis?
```
BACTERIAL so:
Cloudy CSF and raised protein because bacterial produce proteins.
Low glucose because bacteria eat glucose
Neutrophils.(=polymorphs)
[PTS]
```
424
What could be the cause of a generalised vesicular rash in a 2 year old?
Chicken pox (Varicella zoster virus)
malaise, fever, itchy generalised erythematous vesicular rash.
The lesions blister, scab over then stop being contagious. Usually starts on trunk or face.
425
How is chicken pox treated?
Keep cool, trim nails, calamine lotion
VZIg for immunocompromised pts and neonates.
NOT NSAIDS - risk of superinfection.
426
What may cause a child with chickenpox to develop a fever again after it has started to settle?
Secondary bacterial infection - staphylococcal, streptococcal. Could lead to TSS or necrotising fasciitis.
427
What could cause a unilateral, painful blistering rash in a child?
Shingles (reactivation of varicella zoster virus)
| Rash in one dermatome, does not cross the midline.
428
Give 3 important complications of VZV.
Pneumonia
Encephalitis
Group A strep skin infection.
[PTS]
429
How is shingles treated?
VZIg for non-immune pregnant mothers to prevent congenital varicella syndrome.
[PTS]
430
What is nappy rash?
Usually contact dermatitis from ammonia released by bacterial breakdown of urine. Not as widespread, bright or dark as candida.
431
How is nappy rash treated?
Advise parents to leave nappy off, change it often, use fragrance- and alcohol-free wipes, pat (not rub) dry,
Zinc and castor oil ointment,
hydrocortisone.
NOT talcum powder.
432
What could cause a red rash on a baby's bottom with satellite lesions?
Candida. Also may have oral lesions.
433
How is candida treated?
Topical antifungal eg imidazole. Stop using creams until candida has settled.
434
What could cause a bluish-black macule in the lumbar sacral region in an infant?
Mongolian blue spot, common benign birthmark in non-caucasians
but could be a bruise/NAI.
435
What could cause erythematous vascular marks on a baby's face?
Birthmark - superficial capillary haemangioma.
436
How is impetigo treated?
Swab vesicles - MC+S
Topical fusidic acid (PTS and formative)
Flucloxacillin if systemic features
437
What could be the diagnosis in a school-age with a red rash on the cheeks and arms with flu-like symptoms?
Erythema infectiosum aka slapped cheek syndrome.
Lip pallor
Due to parvovirus B19. Spreads to upper arms.
(or SLE but its never lupus)
438
What are the important complications of parvovirus B19?
Parvovirus B19 =slapped cheek
| Aplastic crisis in haemolytic anaemia (eg sickle cell/thalassaemis) or fetus (hydrops if MTCT)
439
When are children infectious with VZV and therefore cannot go to school?
2 days before the rash until the rash has resolved. Excluded from school until 5 days from start of skin eruption.
[OH]
440
What could cause a high fever, maculopapular rash and convulsions in a 1 year old? Why would you examine the lymph nodes?
Roseola infantum - HHV6. AKA sixth disease.
Children between 6-24 months
Palpable posterior lymph nodes is a feature.
Vomiting and diarrhoea.
Differential: measles, rubella - rare, non-vaccinated.
441
How is roseola infantum treated?
Self-resolving. Supportive rx. Sometimes ppl give abx then the rash comes on and it looks like an allergic reaction but its not.
442
What could cause a rash on the torso of an unwell 4-year-old child after a sore throat?
Scarlet fever.
Strep pyogenes (Group A haemolytic strep)
Causes 'sandpaper' rash on torso, face sparing, unwell, strawberry tongue.
443
How is scarlet fever managed and what are the complications?
Mx: throat swab
PO penicillin V or azithromycin
Complications: OM, rheumatic fever, glomerulonephritis.
444
What could cause blistering red spots on the hands, feet and mouth, and what is the causative organism?
Hand-foot and mouth disease
Coxsackie A16 virus, enterovirus 71
Would be preceded by viral illness. Mouth ulcers first.
445
How is hand foot and mouth disease treated?
Conservative, should resolve in 10 days
| ISOLATION as very contagious.
446
What could cause high fever, hypotension, and a diffuse erythematous macular rash as well as multi-organ dysfunction?
Toxic shock syndrome
| Caused by toxin-producing staph aureus and group A strep.
447
How is toxic shock syndrome managed?
```
ICU, ABCDE - it's shock!
Oxygen, fluids
Debridement
3rd gen cephalosporin eg ceftriaxone, + clindamycin
IVIg
```
448
A child develops skin peeling after TSS. What is going on here?
Diffuse desquamating erythematous rash is normal 1-2 weeks after TSS onset.
449
A child is irritable with fever, coryza and conjuctivitis. On examination there are white spots on the buccal mucosa and a rash behind the ears. What is the cause?
Measles, caused by a single-stranded negative sense RNA paramyxovirus.
Rare due to MMR vaccine.
The rash will spread downwards to whole body.
450
When do children get the MMR vaccine?
Twices:
12 months,
3-4 years.
451
Give 3 important complications of measles.
```
Encephalitis (1-2 weeks after illness)
Subacute sclerosing panencephalitis (5-10 years later)
Otitis media (most common complication)
Pneumonia (most common cause of death)
Febrile convulsions
Myocarditis.
```
452
How is measles managed?
Mx of active disease is supportive.
| Watch for and treat complications eg OM, pneumonia.
453
What are erythema multiforme?
Widespread, itchy rash with characteristic “target lesions” that look like bullseye targets, upper limbs are more commonly affected.
Can be associated with systemic symptoms of mild pyrexia, stomatitis, muscle and joint aches, headaches.
Cause:
Hypersensitivity reaction.
Mainly HSV
M. pneumoniae sarcoidosis, SLE.
Drugs: Penicillin, sulphonamides, carbamazepine, allopurinol, NSAIDs, oral contraceptive pill.
(same causes as SJS/TEN but considered separate)
454
How is erythema multiforme treated?
No treatment, self-resolving.
455
What typically causes a very itchy rash on the hands?
Scabies: mites called sarcoptes scabei that burrow under the skin and lay eggs (ewww), then a type IV hypersensitivity reaction causes red spots first between fingerwebs then whole body. Can take up to 8 weeks before any sx appear.
456
How is scabies treated?
Wash everything to get rid of the mites.
Permethrin cream for 8 hours to whole body except head, wash off, repeat in a week.
Contagious so all household and close contacts should be treated same way.
457
What is ringworm?
```
Fungal invasion of dead keratinous structures (dead skin eg heel, nails and hair) causing 'ringed' lesions.
Tinea capitis (scalp)
Tinea pedis (athletes foot)
Tinea cruris (groin)
Tinea corporis (body)
```
458
What is tinea capitis?
Ringworm on the scalp (fungal infection). Sometimes acquired from dogs and cats, causes scaling and patchy alopecia with broken hairs.
459
How is tinea capitis treated?
As for any fungal infection:
Topical antifungal eg clotrimazole or oral antifungal eg fluconazole.
NOT steroid creams as that will make it worse.
Treat the dog or cat if infected.
460
What can cause a thick yellow scaly rash on a baby's scalp?
'Cradle cap' aka infantile seborrheic dermatitis. Not itchy, so not eczema, but associated with risk of developing eczema. Treat with emollients.
461
How is psoriasis managed?
Topical corticosteroids, vitamin D analogues.
462
Give 3 complications of psoriasis.
```
Psoriatic arthritis
Increased risk of:
Metabolic syndrome
CVD
VTE
Depression/anxiety
```
463
When would you be worried about cafe au lait spots?
Normal on their own but if >6 by the time the child is 5 years old it could be a sign of neurofibromatosis.
464
What could cause a flat red/purple mark that is present at birth and does not go away?
Capillary malformation (port wine stain). Benign, unilateral, face, chest and back.
465
What is a congenital melanocytic naevus and is it worrying?
literally just a mole
466
What are the effects of maternal rubella infection?
Before 8 weeks gestation: Deafness, CHD (PDA, pulmonary stenosis), cataracts, LD
13-16 weeks: Impaired hearing
After 18 weeks: minimal risk
467
How does rubella present in children?
Prodrome may be low grade fever or nothing,
Rash may be first sign - maculopapular, face then body. 3-5 days in duration and not itchy in children.
Prominent lymphadeopathy.
needs to be confirmed serologically especially if risk of exposure to non-immune pregnant woman.
468
How is rubella treated?
There is no treatment. If havent already had MMR, have this vaccine before pregnancy. However if they do have rubella abs in pregnancy, they should not get the vaccine until after birth.
469
When is the DTaP vaccine given and what does it include?
Diphtheria, pertussis, tetanus, polio. AKA 4 in 1. 5 times:
1. 8 weeks
2. 3 months
3. 4 months
4. booster 3yrs4months - 5years
5. booster for D and T only at 13-18 years old.
[OH]
470
What infection can cause upper airway obstruction, myocarditis and neurological manifestations in someone who has not been adequately immunised?
Diphtheria
471
What infection can cause aseptic meningitis and rarely lower motor neurone disease in non-vaccinated individuals?
Polio/poliomyelitis.
472
Write out the vaccination schedule.
8w =
6 in 1:
DTaP(=diphtheria, tetanus, pertussis), IPV(=polio), HiB, Hep B
+Men B, Rotavirus
```
12w = 6 in 1 + PCV, Rotavirus
16w = 6 in 1 + Men B
1y = Hib/MenC, PCV, MMR, Men B
2, 4 and 13 months:
PCV13 (pneumococcal conjugate vaccine)
3, 4 months: MenC
12-13 months: Hib booster, MenC, MMR (measles, mumps, rubella)
12-13 years - HPV.
```
473
Who do we vaccinate against BCG and why?
Only neonates at increased risk of TB eg born to parents from TB-endemic country.
To prevent disseminated disease including meningitis in childhood.
BCG vaccination is protective against miliary spread of TB.
474
How is TB spread?
Respiratory
Close proximity, infectious load and underlying immunodeficiency enhance the risk of transmission.
Adult to adult/child transmission
Children are not infectious because the disease is paucibacillary.
475
Give 3 signs of active TB infection in children.
Positive mantoux test.
Hilar lymphadenopathy on CXR.
Symptomatic: Ghon complex - lung lesion + lymph node spread.
Fever, anorexia, wt loss, cough, x ray changes.
476
How is TB treated in children?
```
Triple or quadruple therapy.
RIPE
Rifampicin
Isoniazid
Pyrazinamide
Ethambutol
```
477
How is TB diagnosed in children?
AFB culture to assess sensitity
Mantoux test.
IGRA: IFN-gamma release assays
478
What are the main causes of encephalitis in children?
Most in the UK is viral: enteroviruses, respiratory viruses, herpesviruses HSV, VZV and HHV6.
Worldwide - Mycoplasma, borellia burgdorferi (Lyme disease), Rickettsial (Rocky Mountain spotted fever), arboviruses, HIV, SSPE
[Lissauer]
479
How is encephalitis treated in children?
IV high dose acyclovir until HSV is excluded - because HSV encephalitis causes 70% mortality and severe neurological sequelae.
[Lissauer]
480
What is the main route of HIV infection in children?
MTCT, occurring either intrauterine, intrapartum or through breastfeeding postpartum.
Less commonly, infected blood products, contaminates needles or sexual abuse.
481
How is HIV diagnosed in
a) an infant
b) a pre-school child?
a) under 18 months born to infected mother: HIV abs will be positive due to transplacental maternal IgG HIV abs so need to do HIV DNA PCR.
b) over 18 months - positive HIV antibodies = active infection.
482
How does HIV affect children?
Presentation depends on symptoms and all children of HIV-positive mothers should be tested regardless of symptoms.
Could be asymptomatic or progress rapidly to AIDS.
483
What are the symptoms of mild, moderate and severe immunosuppression?
Mild: lymphadenopathy, parotitis
Moderate: Recurrent bacterial infections, candidiasis, chronic diarrhoea, LIP
Severe (AIDS): opportunistic infections eg PCP, failure to thrive, encephalopathy, malignancy.
484
How is HIV in children managed?
ART:
All infants as their risk of disease progression is higher
Over 1 yr depends on clinical status, HIV viral load, CD4 count.
Co-trimoxazole to protect against PCP for infants and children with low CD4.
Immunisation but not BCG.
485
Give 3 reasons why perinatal transmission of HIV is only <1% in the UK.
ART throughout pregnancy and postpartum to achieve undetectable viral load at time of delivery, and C section if this not achieved.
Avoidance of breastfeeding
Active management to avoid prolonged ROM or instrumental delivery
486
What are the main causes of immune deficiency?
Secondary to infection, malignancy, malnutrition, splenectomy, nephrotic syndrome, immunosuppressant drugs.
Primary immune deficiency is uncommon and due to genetic disorders.
T cell: SCID, DiGeorge
B cell: defect/deficiency
Neutrophil: chronic granulomatous disease (X linked, AR)
Risk factors: Parental consanguinity, Male
487
What are the management options for immune deficient children?
Antimicrobial prophylaxis - co-trimoxazole for PCP, azithromycin for recurrent bacterial infections, longer courses and lower threshold for IV abx when infected, BM transplant for SCID and CGD.
many more - [Lissauer]
488
What needs to be excluded in a child not walking by 18 months?
CP
DMD
GDD due to a syndromic cause
[OH]
489
Give 3 main causes of delayed speech development.
Familial
Hearing impairment eg chronic otitis media (glue ear).
Environmental - poor social interaction/deprivation
Neuropsychological - GDD, ASD.
490
Give 3 causes of global developmental delay.
Genetic eg Downs
Prenatal eg alcohol
Perinatal eg birth asphyxia
Postnatal eg anoxia, CNS infection, metabolic - hypoglycaemia
Congenital brain abnormality eg hydrocephalus/microcephaly.
491
What are the signs of spastic cerebral palsy?
```
Hemiplegic/diplegic/quadriplegic
Velocity-dependent, increased resistance to passive stretch
Increased tone and reflexes as it is UMN
'Clasp knife' spasticity ('catch')
Flexed and pronated wrist
Bulbar - dysphagia, dribbling.
```
492
What are the normal changes in reflexes in the infant?
Reflexes: lose the primitive reflexes (Moro, grasp, stepping) by 4-6 months
Develop mature reflexes: parachute, righting reflex. Allows baby to sit by 6-8 months.
493
By what age should a child sit and walk?
Sitting - 6-8 months, refer if not sitting by 9 months
| Walking - median age 12 months, refer if not walking by 18 months
494
How would you initially manage a child with seizure >10 min?
Treat as if SE (although cant be diagnosed til 30min)
1) ABCDE (Dont Ever Forget Glucose)
100% Oxygen, cannulation, vital signs, O2. note time.
2) IV lorazepam or rectal diazepam
3) bloods for FBC, U+E, ca, mg, VBG.
495
What must you exclude in a child with a fever and seizure?
Meningitis, even if they have a diagnosis of epilepsy. Stiff neck, extreme lethargy, vomiting, <1 yr old.
HSV encephalitis - decreased consciousness.
496
What antibiotics would you give a child with a fever and seizure, and why?
IV ceftriaxone + clarithromycin for meningitis
| Acyclovir for HSV encephalitis.
497
What is a febrile seizure?
Seizure associated with fever with no definable intracranial cause (CNS infection, metabolic imbalance or neurological condition)
Brief, generalised convulsive seizure in a child 6 months to 6 years of age.
Genetic predisposition
Age-limited.
498
How is a simple febrile seizure defined?
GTC seizure lasting up to 15 minutes and not recurring within 24 hours.
499
How is a complex febrile seizure defined?
Lasting over 15 minutes, focal or recurring within the same febrile illness.
4-12% risk of developing epilepsy.
500
How is febrile status defined?
Lasting over 30 minutes. But clinically, treated after 5 min.
501
How is a febrile seizure managed?
Move danger away, consider privacy, not the time always
Antipyretics eg prn paracetamol + ibuprofen
Educate and reassure carer/parent.
502
How is epilepsy defined/diagnosed?
RECURRENT and UNPROVOKED.
1. At least 2 unprovoked (or reflex) seizures occurring >24h apart
2. 1 unprovoked (or reflex) seizure and a probability of further seizures similar to the general recurrence risk
3. Diagnosis of epilepsy syndrome.
503
Give 3 causes of acute symptomatic seizures other than epilepsy.
```
Infection
Hypoglycaemia
Hypoxia
Electrolyte derangements
Trauma
[PTS]
```
504
How is the EEG used in seizure diagnosis?
What seizure types are occurring?
What is the epilepsy syndrome?
Not - is it epilepsy or not, because EEG has low sensitivity and specificity for this.
505
A healthy 3-week old infant has jerks that only occur while sleeping. What is the diagnosis?
Benign neonatal sleep myoclonus.
| These are myoclonic movements NOT involving the face.
506
A child goes to bed at 8 and gets up at 10 crying inconsolably. After 10 minutes they appear confused and go back to sleep easily. What could be the diagnosis?
Night terror.
| [Oxford]
507
What could cause dystonic posturing of the head, neck and back after feeding?
Sandifer syndrome due to GORD.
508
A 13-year-old child goes pale while standing in assembly and falls to the ground. She was incontinent and jerking. What could be the diagnosis and what would support the dx further?
Vasovagal syncope.
Rapid recovery, prodromal pallor, nausea, visual greying and dizziness.
Caused by illness, heat, low food and water intake, prolonged standing.
509
A mother comes to see you concerned about her infant shuddering occasionally. What could be the diagnosis and what would support the dx further?
Benign 'shuddering spells', a shivering appearance provoked by excitements such as a toy or food.
510
What is reflex asystolic syncope?
A seizure mimic in which a child has unexpected pain or discomfort (bangs head, sees blood) --> pale, hypotensive and LOC.
May have tonic-clonic jerking. Vagally mediated severe bradycardia or asystole. Self limiting, no treatment required.
511
What is hyperekplexia?
Whole body stiffening in response to sudden noises or being touched and handled. Severe neonatal form can result in life-threatening apnoea. Can be terminated by forcible flexion of the neck.
[PTS]. rare
512
What is the diagnosis in a child with infantile spasms, developmental delay and hypsarrhythmia on EEG?
West syndrome.
513
Which syndrome can cause tonic seizures with trunk flexion, myoclonic jerks and atonic seizures with developmental delay?
Lennox-Gastaut syndrome.
514
A 3 year old boy does not make eye contact or play with others. What could be the diagnosis? How is it treated?
Possible autistic spectrum disorder (ASD).
| Usually managed by applied behavioural analysis (ABA).
515
A 7-year-old boy has been getting in trouble at school for leaving the class without asking and never handing in his homework. What could be the diagnosis and how is it treated?
ADHD. Inattention, hyperactivity and impulsivity. Must be >6 months, started before 7 years, and impairment across 2 domains.
Treatment - Methylphenidate/dexamfetamine/ atomoxetine.
[OH]
516
A 6 year old is hostile, negative and defiant to his parents. What could be the diagnosis and how is it prevented?
Oppositional defiant disorder (ODD). Must be >6 month duration and causing problems across domains. Avoid co-ercive parenting +Therapy
517
A 14 year old has been expelled from school for setting fire to the maths department. Since then he has run away from home. What could he have?
```
Conduct disorder (CDD). More common in teenagers than children.
Treatment similar to ODD.
```
518
A 14 year old girl is brought in by her mother because she appears to have lost a lot of weight and is eating less. Her periods have stopped. The girl says she is eating plenty. What could be the diagnosis?
Anorexia nervosa.
Could be BN but this is more likely to present in adulthood, less wt loss, and have other chaotic lifestyle factors. The patient may deny anorexia as they have distorted body image.
519
A 16 year old girl is seen in the ED for self harm. Her bloods show hypokalaemia and alkalosis. What could be the diagnosis?
Potential bulimia nervosa - electrolyte disturbance from laxatives. Fluctuation in weight, older teens/adults. Co-occurs with 'chaotic' lifestyle eg drugs, sex, self harm.
520
How is anorexia nervosa treated?
Medical: Refeeding, admission if necessary/NG tube. Beware refeeding syndrome.
Psychological: Family therapy.
521
Give 3 causes of cryptorchidism and 1 feature that would suggest each.
(AKA undescended testes)
Gonadotrophin insufficiency: hypogonadotrophic hypogonadism, Prader-Willi syndrome, congenital hypopituitarism.
Absent musculature syndrome (Prune-belly syndrome). Large bladder, dilated ureters.
522
Why is orchidopexy indicated?
This is surgical placement of the testis in the scrotum. Considered if testis not descended at 6 months. If not done, could have problems with fertility - scrotal temperature needs to be outside body temp; Increased risk of malignancy; and cosmetic/psychological.
523
By what age should the testes descend?
6 months. Unlikely to occur after this.
524
What is important to exclude in a boy with acute abdominal or scrotal pain?
Testicular torsion - until proven otherwise. Always examine the scrotum.
525
What is the definition of premature sexual development?
Secondary sexual characteristics before 8 years old (females) or 9 (males).
526
What causes precocious puberty?
```
Usually idiopathic/familial in girls and pathological in boys.
Gonadotrophin dependent ('central') PP - HPA axis. Hypothalamic haemartoma, craniopharyngioma.
Gonadotrophin-independent PP - excess sex steroids. CAH, adrenal tumour.
```
527
What could cause a 7 year old girl to develop pubic hair over a period of 2 weeks with no other secondary sexual characteristics?
This is the wrong order and rapid onset so organic cause is indicated
Excess androgens from CAH/Androgen secreting tumour.
Neurological sx and signs eg neurofibromatosis.
528
What is the normal order of puberty in girls?
Breasts --> pubic hair --> growth --> menarche
529
What is the normal order of puberty in boys?
Enlargement of testicles --> public hair --> growth.
530
A 7 year old boy is noted to have tanner stage II development (some pubic hair at base of penis, testicular volume 4-8mL, voice breaking). What investigations would you do?
Bilateral enlargement --> gonadotrophin release from intracranial tumour --> MRI.
Small testes would suggest adrenal cause eg tumour/adrenal hyperplasia.
Unilateral enlarged testis suggests a gonadal tumour.
531
A newborn infant shows ambiguous genitalia. There are no testes but the labia are fused with a large clitoris. What is the most likely diagnosis and how would you diagnose it?
```
Congenital adrenal hyperplasia.
Karyotype shows 46XX
Ultrasound shows a uterus.
Low aldosterone, low cortisol, high testosterone.
Salt-losing form:
Low Na and high K due to low ACTH.
Metabolic acidosis
Hypoglycaemia
```
532
What is CAH and how is it managed?
Deficiency of 21-hydroxylase-> underproduction of cortisol and aldosterone, overproduction of androgens.
Corrective surgery at late puberty.
Salt-losing crisis - saline, dextrose and hydrocortisone.
533
What are the two main causes of hypothyroidism in a baby girl?
Congenital hypothyroidism. Usually caused by thyroid dysgenesis (85%). Usually sporadic.
15%: Thyroid hormone biosynthetic defect. Imaging can differentiate between the two.
534
What will thyroid function tests show in congenital hypothyroidism?
Primary, so high TSH and low T4.
535
Give 3 features of congenital hypothyroidism.
```
Umbilical hernia
Jaundice
Constipation
Coarse faecies
Excessive sleepiness
Delayed neurodevelopment.
```
536
How is primary hypothyroidism treated and what are the complications if untreated?
Oral thyroid hormone replacement (lexothyroxine)
| Otherwise neurodevelopmental delay, hypotonia, ataxia, poor growth, short stature.
537
What could cause low TSH and low T4?
Central hypothyroidism.
Tumour
Post-cranial radiotherapy/surgery
Developmental pituitary defects.
538
Give 5 signs of acquired hypothyroidism.
```
Things slow down
Goitre
Wt gain
Cold intolerance
Bradycardia
Mental slowness
Decreased growth
breast development in isolation
Coarse hair
SUFE --> hip pain/limp
[Oxford]
```
539
What causes delayed puberty? How could you determine the cause?
```
Gonadotropin levels.
Most common: constitutional/familial.
HypOgonadotropic (low gonatotropins): systemic disease (CF, asthma, Crohns, AN), Hypothalamo-pituitary eg hypopituitarism, GH deficiency, Kallmann syndrome.
HypERgonadotropic:
Klinefelter 47 XXY,
Turner syndrome 45 XO.
Acquired gonadal damage
```
540
What could cause LHRH deficiency? What would you ask the patient?
Kallman sydnrome is a genetic disorder, characterised by association of HH and anosmia, due to absence of GnRH-releasing and olfactory neurons
How's your sense of smell?
541
What causes growth hormone deficiency? Name 3.
```
GH is produced by the anterior pituitary so hypopituitarism causes low GH.
Pituitary tumour (bitemporal hemianopia)
Hypothalamic tumour
Trauma - head injury
Meningitis
Cranial irradiation.
```
542
What could cause primary amenorrhea in a 16 year old girl? How do you diagnose it?
Androgen insensitivity syndrome in someone who is genotypically male (46XY) but has been raised female.
Do a karyotype and USS to look for uterus etc.
543
How is androgen insensitivity syndrome treated?
Complete AIS: female genitalia. Remove testis, oestrogen replacement therapy.
Partial AIS: sex assignment depends on the degree of genital ambiguity, treatment more complicated.
544
Give 5 features of Turner's sundrome
Webbed neck, widely spaced nipples, short stature, cubitus valgus, high arched palate, ptosis, underdeveloped ovaries --> late puberty, infertility.
Karyotype to diagnose: 45XO
Asso conditions: middle ear infections, visual problems, co-arctation of aorta, hypothyroidism, htn, obesity, osteoporsis, diabetes.
Mx symptoms: GH therapy, hormones, fertility treatment.
545
Give 3 causes of anaemia in infants/children.
Loss: bleeding, VWF
Destruction: G6PD, haemoglobinopathies, haemolytic disease of newborn, spherocytosis
Impaired production: Red cell aplasia (low reticulocytes), Iron/folate def
[Lissauer]
546
What may be causing anaemia if the reticulocyte count is normal or raised?
Impaired production - reticulocytes arent being made into RBCs because not enough iron, folate, renal failure, or too much inflammation
Haemolysis - SCD, thalassaemia, spherocytosis.
547
What is the most likely cause of iron deficiency?
Inadequate intake. This may be due to poor feeding - CMPI, GORD. Tannin in tea inhibits iron uptake and cows milk has low iron content and is poorly absorbed. Replace milk with iron rich food.
548
What is the likely cause of low Hb with low reticulocytes, negative Coombs test and normal bilirubin?
Red cell aplasia (no precursor cells as BM fucked)
Parvovirus B19
Diamond-Blackfan anaemia (congenital)
Ix: BM aspirate and parvovirus serology.
549
What could be causing anaemia and jaundice in a 2-day-old boy from Korea? What medications and food should he avoid?
G6PD deficiency - X-linked deficiency of enzyme which normally prevents oxidative damage to red cells.
Medications/foods which can cause haemolysis:
Antimalarials
Abx
Divicine in broad beans
550
What could cause pallor, failure to thrive and jaundice in a 4-month-old with hepatosplenomegaly?
Haemaglobinopathy - beta-thalassaemia major. Clinical manifestations are delayed till 6 months because until this time they still have fetal haemoglobin to compensate.
[Lissauer]
551
What causes sickle cell disease symptoms?
HbS inherited.
Symptomatic if HbSS. --> the sickled cells have reduced lifespan, get stuck in the blood vessels --> ischemia, dactylitis. Exacerbated by low o2 tension, dehydration or cold.
Sickle trait - inheritance of HbS from one parents and normal beta-globin gene from the other. Carriers.
552
How is sickle cell disease managed?
Vaccination - pneumococcal, HiB and meningococcus.
Daily oral penicillin throughout childhood.
Folic acid (because of increased cell turnover)
Avoid exposure triggers - keep child warm and hydrated.
Crisis --> may need analgesia, hydration, abx. Exchange transfusion for acute chest, stroke and priapism.
Hydroxycarbamide is used to prevent vaso-occlusive complications.
553
What is the difference between SC disease and sickle cell anaemia?
SCD - HbSC, nearly normal Hb, fewer painful crises.
| SCA: HbSS, painful crises, lower Hb.
554
How is beta-thalassaemia managed?
Lifelong monthly blood transfusions. Otherwise you get growth failure, bone deformation, death.
+ Iron chelation eg deferasirox from 2-3 years, to prevent chronic iron overload.
BM transplant is curative, usually only for children with HLA-identical sibling, as there is a higher chance of success.
555
How is Fanconi anaemia inherited and what are the signs?
Autosomal recessive.
| Aplastic anaemia, chromosomal fragility, short stature, renal malformations in 30%, pigmented skin lesions.
556
What could cause abnormal bleeding in a female neonate?
Vit K deficiency
557
What would cause nosebleeds and menorrhagia in a girl?
von Willebrand disease (defective factor VIII degradation).
| Autosomal dominant.
558
What could cause recurrent spontaneous bleeding into joints in a 1-year-old boy?
Severe Haemophilia A (defective factor VIII synthesis) or B (IX).
X- linked recessive.
Haemophilia a severity depends on factor VIII functionality:
Mild: >5-40% VIII functionality, only bleeds after surgery.
Moderate: 1-5% functionality, only bleeds after minor trauma
Severe: <1% functionality, spontaneous bleeds.
559
What is haemolytic disease of the newborn?
An 'isoimmune/alloimmune' condition in which the mother's antibodies attack the fetal haemoglobin, causing haemolytic anaemia. Eg due to Rhesus or ABO incompatibility.
[Lissauer]
560
Which are the 3 most common types of cancer in children?
1. Leukaemia
2. CNS tumours
3. Lymphoma
(4. Neuroblastoma)
561
Which type of cancers are more common in the first 6 years of life?
Neuroblastoma
| Wilms tumour
562
Which type of cancers are more common in adolescence and early adulthood?
Hodgkin lymphoma
| Bone tumours
563
An 8 year old child undergoing treatment for AML presents with fever. What should you do?
Neutropenic sepsis = Hospital admission, cultures and IV abx. Children with cancer are immunocompromised -consider measles, chickenpox and PCP.
[Lissauer]
564
What do you need to consider in a child with asthma and new monophonic fixed wheeze?
Intrathoracic mass due to leukaemia or lymphoma. Treating with steroids can delay the diagnosis.
565
Give 5 features that would suggest cancer in a child with enlarged lymph nodes.
```
Diameter >2cm
Persistent or progressive enlargement
Non-tender, rubbery, hard or fixed
Supraclavicular or axillary
Pallor, lethargy
Hepatosplenomegaly.
```
566
How is ALL diagnosed?
FBC within 48h, admit
Blood film - Blast cells
BM biopsy definitive - B cell proliferation
LDH - raised in leukaemia but not specific
Clinical examination of testes for swelling
CXR for mediastinal mass
567
How is ALL treated?
Induction of remission: steroids, weekly IV vincristine, IM L-asparaginase, intrathecal methotrexate
Maintenance: 2 years (3yrs for boys)
568
Give 3 poor prognostic factors for ALL.
Philadelphia chromosome t(9:22)
Male gender
Age <2 or >10
High WCC at diagnosis
569
How can you differentiate AML from ALL?
ALL more common in children, more lymphadenopathy and intrathoracic extramedullary disease
Blood film: blast cells with Auer rods in their cytoplasms
Cytogenetics: t(8;21), t(15:17)
570
How is AML treated and how is it different to ALL?
AML: not prolonged as it is in ALL.
| 4 courses intensive myeloablative chemotherapy.
571
Give 6 complications of Down's syndrome.
Learning disability
Recurrent otitis media
Deafness. Eustachian tube abnormalities lead to glue ear and conductive hearing loss.
Visual problems such myopia, strabismus and cataracts
Hypothyroidism occurs in 10 – 20%
Cardiac defects affect 1 in 3, particularly ASD, VSD, patent ductus arteriosus and tetralogy of Fallot
Atlantoaxial instability
Dementia
Leukaemia - ALL and AML 20-30x higher. However, prognosis is the same or better
572
Which type of cancer is likely in a 12 year old boy with an anterior mediastinal mass? How would you confirm this?
Lymphoblastic non-Hodgkin's lymphoma (NHL).
Dx:
BM aspirate, LP, peritoneal fluid aspirate, imaging, TdT positive.
[OH]
573
Which type of cancer is likely in a 12 year old boy with an abdominal or jaw mass, who had EBV as a child?
Mature B cell (Burkitt) NHL. Endemic Burkitts associated with early EBV infection and frequently affects the jaw.
t (8,14), t(8;22), t(2,8)
Large cell lymphoma is also possible, less common.
574
Which type of cancer is likely in a 12 year old boy with painful peripheral lymphadenopathy?
NHL - Anaplastic large cell lymphoma
CD30 expression
[OH]
575
What is a Wilms tumour and how does it present?
Nephroblastoma (emrbyonal renal tissue tumour).
>5 year old, asymptomatic with large abdominal mass.
Other sx: haematuria, htn, anaemia, anorexia, abdo pain.
Exclude feces.
[lissauer, 100cases]
576
How do bone tumours present and in whom?
```
BOYS
Osteogenic sarcoma - most common
Ewing sarcoma - younger
Persistent localised bone pain, no systemic sx or mass. Note: children don't get frozen shoulder so always exclude bone tumour.
Lung and bone mets - bone scan, chest CT
```
577
Which type of cancer is more common in older children/adults with previous EBV infection? What would you see on histology?
Hodgkin's Lymphoma
Reed-Sternberg cells
Consider in painless cervical/mediastinal lymph node enlargement.
578
How does retinoblastoma present?
<3 year old, White pupillary reflex (instead of normal red reflex), squint.
Chromosome 13, AD inheritance, incomplete penetrance.
579
What is the most common type of CNS tumour?
```
Low grade (1) glioma. Cerebellum and optic pathway are common sites, asso with NF1.
Infratentorial = cerebellum, supratentorial = cerebrum.
```
580
What is a neuroblastoma and how does it present?
Malignant embryonal tumour derived from neural crest tissue. Affects adrenal glands and sympathetic chain.
<5 yrs, variable presentation - abdo mass, Horner's, bone pain/limp, anaemia, wt loss, hepatomegaly.
581
Which type of liver tumour predominantly affects children and what marker might be raised in the serum?
Hepatoblastome (HBL) - 65%
(HCC 25%)
<1 year old, abdo mass
Raised serum aFP
582
What is Klinefelters syndrome and how does it present?
XXY - an extra X chromosome. Appear 'normal male' until puberty, then develop hypogonadism --> 'feminine' build, tall, wide hips, infertility (azoospermia), gynecomastia, subtle LD, smaller testicles
Rx is symptomatic with T injections, potentially IVF. Increased risk breast cancer, OP, diabetes, anxiety and depression compared to XY males.
583
How is Down's syndrome managed?
MDT, supportive:
Occupational therapy
Speech and language therapy
Physiotherapy
Dietician
Paediatrician
GP
Health visitors
Cardiologist for congenital heart disease
ENT specialist for ear problems
Audiologist for hearing aids
Optician for glasses
Social services for social care and benefits
Additional support with educational needs
Charities such as the Down’s Syndrome Association
Monitoring:
Regular thyroid checks (2 yearly)
Echocardiogram to diagnose cardiac defects
Regular audiometry for hearing impairment
Regular eye checks
584
Give 5 features of Down's syndrome.
```
Hypotonia (reduced muscle tone)
Brachycephaly (small head with a flat back)
Short neck
Short stature
Flattened face and nose
Prominent epicanthic folds
Upward sloping palpebral fissures
Single palmar crease
IQ 25-70
Hypotonia
Brushfield spots/increased pigmentations in the iris
Delayed motor milestones
Small ears
```
585
What is Edwards' syndrome and how does it present?
Trisomy 18. Caused by non-disjunction during maternal oogenesis.
Females, death at 4 days due to central apnoea.
SGA+LBW, OFC<3rd centile, CHD (VSD), esophageal atresia, Wilms tumour
FISH testing --> formal chromosome analysis.
586
What is Patau syndrome and how does it present?
Trisomy 13.
Multiple congenital anomalies --> USS.
SGA, microcephaly, CHD, renal anomalies (horseshoe kidney), polydactyly, low IQ
587
Give 5 features of Fragile X syndrome and which chromosome is affected.
Mutation in FMR1 gene on X chromosome. Unknown if dominant or recessive.
Males, GDD, intellectual disability, large testicles after puberty, long narrow face, hypermobility, ADHD, autism (but quite social), seizures, large ears
Girls less severely affected.
Mx is supportive, clinical geneticist for counselling.
588
What can cause polydramnios and a floppy baby at delivery, with high neonatal mortality?
Congenital myotonic dystophy. >1,000 CTG repeats in myotonin gene, 19q. AD inheritance, mother may not be diagnosed yet but may have percussion myotonia and sleep with eyes open.
Neonatal mortality 20%.
589
What needs to be tested in a child with late motor development and why?
CK - will be >10x elevated in Duchenne Muscular dystrophy. X-linked recessive disorder.
590
Give 5 features of Angelman syndrome. How is it inherited?
UBE3A gene on Maternal chromosome 15q11.13.
Severe developmental delay, ataxic wide-based gait and hand-flapping, excitable, happy, fascination with water, inappropriate laughter, abnormal sleep patterns, ADHD, epilepsy, dysmorphic features, microcephaly
591
What is Prader-Willi syndrome and how does it present?
Loss of function to paternally inherited 15q11-13.
Infants: Floppy (hypotonia), feeding difficulties, FTT, narrow forehead, strabismus, thin upper lip, downturned mouth
Older children: insatiable hunger, short stature, obtruncal obesity.
SNRPN methylation assay.
Rx - GH to improve muscle development and body composition, dietitian, education support etc
592
Give 3 features and 3 associations of Noonan syndrome. How is it inherited?
AD inherited disorder, PTPN11 on chromosome 12q.
Features: Short stature, Triangular face
Broad forehead, webbed neck, widely spaced nipples (like Turner), Pectus excavatum, Squint, ptosis
Assocations:
Congenita HD: HIPA:
Hypertrophic cardiomyopathy
Infundibular pulmonic stenosis
Pulmonary htn
ASD
Cryptorchidism (undescended testes) can lead to infertility. Fertility is normal in women.
Learning disability
Bleeding disorders
Lymphoedema
Increased risk of leukaemia and neuroblastoma
593
Give 4 associations with Williams syndrome and how does it present?
Microdeletion on chromosome 7q11 which contains elastin gene. Random, not inherited.
Peri-orbital fullness, full cheeks, wide smiling mouth (elfin), 'starburst' iris, small chin, poor visuospatial skills, party personality, anxiety, learning disability
Asso: Hypercalcaemia, aortic stenosis, ADHD, hypertension
FISH diagnosis
594
What is osteogenesis imperfecta and how does it present?
aka 'Brittle bone disease'.
A group of disorders of collagen metabolism causing bone fragility, bowing and frequent fractures. Most common type is type 1 - AD inherited,
Fractures, blue sclerae, hearing loss
Type II - lethal, stillbirth.
595
Give 3 causes of a limp in children <5 years.
```
Back: Discitis
Hip: DDH (neonate), transient synovitis, septic arthritis
Femur: osteomyelitis
Knee: septic arthritis
Neuroblastoma
```
596
Give 3 causes of a limp in children 5-10 years.
Back: discitis
Hip: septic arthritis, Perthe's
Knee: Discoid meniscus, Osgood-schlatter, osteochondritis dessicans
Foot and ankle: Kohler's, Freiberg's, verruca, ingrowing toenail.
Ewing's sarcoma, osteosarcoma
597
How is septic arthritis managed?
Usually due to haematogenous spread. Can occur following skin would such as chickenpox scar.
Aspirate, IV abx 3 weeks, oral abx 4-6 weeks.
Irrigation and debridement.
Splint
Physiotherapy
Prognosis good unless diagnosis delayed.
598
What are the complications of septic arthritis?
Early treatment ESSENTIAL to prevent destruction of articular cartilage and bone.
599
What is the most common cause of an acutely painful hip in an afebrile 4 year old girl following a viral infection?
Transient synovitis (irritable hip). 2-12 years.
Manage with bed rest, improves within days.
Could be Perthes disease but this is less common, occurs mainly in boys 5-10 years.
600
What could cause a child to develop fever, painful immobile leg, swelling and extreme tenderness?
Osteomyelitis. Infection of metaphysis of long bones.
Staph aureus, strep, H.influenzae if non-immunised. Can spread to septic arthritis.
! Sickle cell- increased risk.
601
How is osteomyelitis managed?
Blood cultures +ve
X ray only abnormal after 10 days.
IV abx until acute-phase reactants have returned to normal, then oral abx for several weeks.
Surgical drainage if not responding.
602
How is osteomyelitis managed?
```
Ix:
Blood cultures +ve
X ray only abnormal after 10 days.
IV abx ASAP until acute-phase reactants have returned to normal, then oral abx for several weeks.
Surgical drainage if not responding.
```
603
What is osgood-schlatter disease?
Osteochondritis of the patellar tendon insertion at the knee. Football/basketball.
604
How is Osgood-Schlatter disease managed?
Reduce activity, physio for quadriceps strengthening and hamstring stretching, occasionally orthotics.
605
What is osteochondritis dissecans and how would it present?
Segmental avascular necrosis of the subchondral bone. Knee pain in very active teens, caused by separation of bone and cartilage from medial femoral condyle following avascular necrosis.
606
How does Perthes disease present? What investigation would you do?
```
Avascular necrosis of the femoral head.
Boys 5-10 years.
Insidious onset limp, hip, groin pain
Trendelenburg gait, muscle wasting
X ray both hips including frog views.
```
607
What could cause limp or hip pain in an obese 13 year old boy?
Slipped femoral epiphysis. Asso metabolic endocrine abnormalities - hypothyroidism, hypogonadism.
608
How is slipped femoral epiphysis managed?
Use X ray with frog lateral view to diagnosed.
| Requires prompt surgery with pin fixation in situ in order to prevent avascular necrosis.
609
What could cause pain and swelling in 5 joints, daily spiking temperatures and a salmon pink rash in a 2-year-old?
```
Juvenile idiopathic arthritis (JIA). Must be >6 weeks, no other cause identified. General 'umbrella' term, includes systemic onset JIA -> fever and rash.
Other:
Infection
Inflammation - IBD, HSP, Kawasaki, SLE
Malignant - leukaemia, neuroblastoma
```
610
How is JIA managed?
Physiotherapy
NSAIDs
intra-articular corticosteroid injections.
611
What could cause swelling of the knees lasting <6 weeks in a 6 year old, and what is the likely causative organism?
Reactive arthritis.
Following extra-articular infection
Enteric bacteria eg salmonella
Low grade fever, normal X rays.
612
How is reactive arthritis managed?
NSAIDs, no treatment. self resolving.
613
What is Kohler's disease and how does it present?
Infarction of the navicular bone. Medial midfoot pain, limp, young boys, especially load-bearing sports.
Rx: Rest.
[OH]
614
What is discoid meniscus and how is it treated?
Rare human anatomic variant of the lateral meniscus of the knee. 3% worldwide, 15% in asia. May be asymptomatic, treatment depends on severity of symptoms.
615
What happens in the fetus when there is extended hypoxia?
Anaerobic respiration, fetal bradycardia.
Further hypoxia --> reduced consciousness, drop in respiratory effort
Brain - hypoxic-ischaemic encephalopathy, CP.
616
What are the principles of neonatal resuscitation?
1. warm baby by drying and keeping delivery room warm, heat lamp. <28 wks - plastic bag
2. APGAR score - 1, 5 and 10 mins.
3. Stimulate breathing - towel drying, head in neutral position, check for airway obstruction eg meconium.
4. Inflation breaths if not breathing. Air in term, +oxygen in pre-term.
5. Chest compressions if HR <60bpm after the above
6. Severe situations - IV drugs, intubation, therapeutic hypothermia.
617
How does the APGAR score work and what is a good score?
```
Appearance - pink scores 2
Pulse - >100 scores 2
Grimmace - good response scores 2
Activity(muscle tone) - active scores 2
Respiration - strong cry scores 2
So overall /10. 10 is the best score, lowest is 0.
```
618
What is the effect of delaying the cord clamping?
Improved hb, iron stores and BP, reduction in IVH and NEC.
Neonatal jaundice - more phototherapy might be needed.
Do not delay if resus required - resus is priority.
[zero to finals]
619
What are the signs of respiratory depression in a neonate?
Hypoxaemia
Hypercarbia
Respiratory acidosis
620
What are the signs of circulatory depression?
```
Low cardiac output
decreased tissue perfusion
ischemia
metabolic acidosis
capillary leak, oedema.
```
621
What can be done to reduce death and disability in a newborn with moderate and severe HIE?
Mild hypothermia: rectal temperature 33-34 degrees for 72h, cooling blanket within 6h of birth. Then gradually warmed over 6h to a normal temperature.
622
What causes respiratory distress syndrome (RDS?)
AKA hyaline membrane disease
Surfactant deficiency --> alveolar collapse, inadequate gas exchange.
Asso with preterm and diabetic mum, more severe in boys.
623
How is RDS prevented and treated?
CS (dexamethasone) given antenatally to stimulate fetal surfactant production, given if preterm delivery anticipated.
After birth: surfactant instilled into lung via tracheal tube.
624
How would you identify RDS in a newborn?
```
Tachypnoea >60 breaths/min
Laboured breathing, chest wall recession
Nasal flaring
Expiratory grunting
Cyanosis if severe.
```
625
Give 3 main complications of infection in preterm infants.
Bronchopulmonary dysplasia (Chronic lung disease)
White matter injury in the brain
Later disability
Major cause of death
626
What is caput succedaneum?
Bruising and oedema of the presenting part extending beyond the margins of the skull bones. Resolves in a few days.
627
What is cephalhaematoma?
Bleeding below the periosteum within margins of skull sutures. Usually parietal. Resolves over several weeks.
628
What is Erb palsy?
Birth injury to the brachial plexus at C5/6, causing affected arm to lie straight with hand pronated and fingers flexed ('waiter's tip').
Often caused by clavicle fracture due to shoulder dystocia.
629
What are the risks of group B strep infection in pregnancy?
Can be transferred to baby during labour and cause neonatal sepsis. Give Prophylactic abx if GBS positive.
630
Give 3 red flags for neonatal sepsis.
Confirmed or suspected sepsis in the mother
Signs of shock
Seizures
Temp baby needing mechanical vencilation
Resp distress starting >4hrs after birth
Presumed sepsis in another baby in a multiple pregnancy
(1 red flag = give abx)
631
How is sepsis treated in a newborn?
Blood cultures,
Abx - benzylpenicillin, gentamycin/ cetofaxime for lower-risk babies
FBC, CRP, LP
Check CRP again at 24 hours and blood cultures at 36 hours. If baby is well stop abx.
632
Give 3 clinical features of neonatal sepsis.
```
[see red flags]
JAUNDICE! treat for sepsis if jaundice + 1 other sign eg:
fever
apnoea
poor feeding
irritability
seizures
lethargy
...anything really!
[Lissauer]
```
633
What is kernicterus?
Brain damage due to high unconjugated bilirubin levels, depositing in the basal ganglia.
634
Give 3 clinical features of neonatal sepsis.
```
[see red flags]
JAUNDICE! treat for sepsis if jaundice + 1 other sign eg:
fever
apnoea
poor feeding
irritability
seizures
lethargy
... anything really!
[Lissauer]
```
635
What is kernicterus?
Permanent brain damage due to high unconjugated bilirubin levels. Less responsive, floppy, drowsy baby with poor feeding. Can lead to CP, LD and deafness.
636
What are TORCH infections?
```
Congenital infections.
Toxoplasmosis
Other: Syphilis, VZV, parvoB19, Zika)
Rubella
CMV
Herpes
```
637
What can be used to delay birth and when is this appropriate?
<24 weeks gestation or hx preterm birth
| Prophylactic vaginal progesterone or cervical cerclage.
638
What should be given to the mother if preterm birth is expected?
Nifedipine tocolysis
corticosteroids <35 weeks
IV Mag sulfate <34 weeks - protects brain, CP
Delayed cord clamping or cord milking
639
What is apnoea and what can cause it?
Apnoea = no breathing for 20 seconds, or with O2 desaturation or bradycardia.
Expected in preterms but pathological in terms.
Apnoea of prematurity: immature autonomic nervous system so poor control of breathing and HR.
Infection, anaemia, obstruction (positional), CNS pathology eg seizures/haemorrhage, GOR, NAS
640
How is apnoea of prematurity managed?
Apnoea monitors
Tactile stimulation
IV caffeine
Will settle as baby matures
641
How is retinopathy of prematurity prevented?
Screening by opthalmologist:
Babies born <32 weeks/<1.5kg.
Starting at 4-5 weeks of age, or 30-31 weeks GA in babies born <27 weeks.
Every 2 weeks, stops once retinal vessels enter zone 3, usually around 36 weeks GA.
642
How is ROP treated?
1) Transpupillary laser photocoagulation to halt and reverse neovascularisation.
2) Cryotherapy, VEGF inhibitors, surgery if retinal detachment.
643
What would cause a 'ground-glass' appearance on CXR?
Respiratory distress syndrome.
644
Give 3 long term complications of RDS.
CLD of prematurity
ROP more severe and more common
neurological, hearing, visual impairment
645
Give 3 long term complications of RDS.
CLD of prematurity
ROP more severe and more common
neurological, hearing, visual impairment
[Z2F]
646
What is necrotising enterocolitis and how does it present?
Necrotic bowel. More common in premature, formula feeds, RDS, sepsis, CHD.
Presentation:
Intolerance to feeds, vomiting particularly bilious, unwell, distended tender abdo, absent bowel sounds, blood in stools.
Can lead to perforation, peritonitis and shock.
647
Give 3 X ray signs of NEC.
```
Dilated loops of bowel
Bowel wall oedema (thickened)
Pneumatosis intestinalis - gas in bowel wall
Pneumoperitoneum - if perforated
Gas in portal veins.
```
648
How is NEC treated?
NBM, IV fluids, TPN, abx.
NG tube to drain fluid and gas.
Refer immediately to neonatal surgical team. Short or long term stoma may be needed, surgery can lead to short bowel syndrome.
649
Give 3 substances that cause NAS.
Alcohol, opiates, diazepam, SSRIs - 3-72 hrs after birth.
| Methodone, other benzos - 24hrs-21 days after birth.
650
How does NAS present?
CNS: irritable, increased tone, seizures, tremors
Vasomotor/resp: yawning, sweating, spiking temp, tachypnoea
Metabolic/GI: poor feeding, regurgitation/vomiting, hypoglycaemia, loose stools with sore nappy area
651
How is NAS managed?
Keep in hosp for 3 days
Oral morphine sulfate for opiate withdrawal
Oral phenobarbitone for non-opiates
SSRIs - no treatment.
652
How does fetal alcohol syndrome present?
```
Microcephaly
Thin upper lip
Smooth flat philtrum
Short palpebral fissure
LD
behavioural difficulties
hearing and vision problems
CP
```
653
Why is VZV dangerous in pregnancy?
More severe in the mother - pneumonitis, hepatitis, encephalitis.
If infected in first 28 weeks: Fetal varicella syndrome - 1% of VZV pregnancies. Growth restriction, microcephaly, hydrocephalus, LD, limb hypoplasia, cataracts (similar to FAS)
Severe neonatal varicella infection if mum infected around delivery.
654
What can cause a baby to have intracranial calcification, hydrocephalus and chorioretinitis?
Congenital toxoplasmosis - toxoplasma gondii parasite in cat feces.
655
What can occur following meconium stained liquor?
Meconium stained liquor --> 5% get meconium aspiration syndrome (MAS). Hypoxia --> gasping, meconium passage in utero, aspiration. inhibits surfactant, obstructs resp tract, induces pneumonitis.
Presents with resp distress, air leaks, patchy collapse.
656
How is MAS treated?
Prevention - if meconium stained liquor, deliver rapidly to avoid more hypoxia and gasping.
Give O2, ventilation with IPPV, surfactant, abx because of risk of listeria.
657
What is bronchopulmonary dysplasia?
Oxygen requirement at 36/40 CGA. Spectrum of disease, affects preterms. Impaired alveolar development. Asso LBW, male, caucasian, IUGR, asthma FHx, chorioamnionitis.
658
How is chronic lung disease of prematurity prevented/treated?
CPAP
Caffeine citrate if <1250g
Vit A if <1000g
Immunise with RSV antibody.
659
What is gastroschisis and how it different to exomphalos?
Exomphalos/ophalocele =
protrusion of abdo contents through umbilicus, convered with a sac, formed by the amniotic membrane and peritoneum. Associated with congenital abnormalities.
Gastroschisis =
bowel protrudes through defect in anterior abdominal wall, no covering sac. Not associated with congenital abnormalities. Greater risk of dehydration and protein loss.
660
How is gastroschisis diagnosed and treated?
Should be diagnosed on antenatal routine USS
| NG tube passed and aspirated frequently, IV dextrose.
661
What can cause bilious vomiting in a newborn with a 'double-bubble' sign on AXR?
Duodenal atresia - gas in stomach and proximal duodenum = double bubble.
Trisomy 21 in 1/3
Bile stained vomiting at birth
Good prognosis after surgical correction.
662
What can cause bilious vomiting, abdominal distension and multiple fluid levels on AXR?
Small bowel atresia. Vascular aetiology.
663
What can cause polyhydramnios, excess mucous on the baby and choking and cyanosis on feeding, co-occurring with a congenital heart defect?
Oesophageal atresia or tracheo-oesophageal fistula. Often co-occurs with ToF - VACTERL association.
664
What can cause a baby to be large for gestational age?
```
Constitutional (most common)
Maternal diabetes
Foetal hyperinsulinism
Hydrops fetalis
Beckwith-Wiedemann syndrome
```
665
What are the key complications in a baby of a mother with DM?
High fetal glucose, so high fetal insulin which antenatally has GH function leading to macrosomia, organomegaly, and polycythaemia --> risk of thrombosis eg renal vein
Rarely can cause IUGR.
Congenital abnormalities eg neural tube defect
Obstetric complications
Hypoglycaemia - resolves as serum insulin level falls
Resp distress
Physiological jaudice ++
Hypocalcaemia
Hypomagnesaemia
Risk DM in later life, obesity, poor development
[OH]
666
How is neonatal hypoglycaemia caused? How does it present?
Defined as glucose <2.6mmol/L in newborn period
Reduced glucose stores: eg LBW
Increase consumption due to SEPSIS, hypothermia, haemolytic disease, seizures, any complication really
Hyperinsulinism - maternal DM
Presentation: asymptomatic or jittery, aponoea, poor feeding, drowsiness, seizures, hypotonia, macrosomia if hyperinsulinism
667
How is neonatal hypoglycaemia managed?
Prevention in those at risk:
Adequate feed <1hr after birth then at least 3 hourly
Monitor blood glucose levels pre-feed, keep warm, support feeding
Severe hypoglycaemia: IV glucose bolus
Asymptomatic: feed, IV fluids
Resistant: hyperinsulinism likely - specialist help. Glucagon in emergency but rebound increased insulin secretion will occur.
668
What causes orofacial clefts?
Multifactorial, 66% are isolated
Environmental - folic acid def, alcohol, tobacco, steroids, anticonvulsants, retinoic acid
30% syndromic: Pierre-Robin syndrome. Upper airway obstruction risk due to posteriorly displaced tongue.
669
What is the main risk of a large cleft palate and how is it managed?
Possible upper airway obstruction in a child with large cleft palate. Nurse prone, nasopharyngeal airway, monitor SpO2. Support feeding, may need obdurator.
Speech defects
Dental problems
Surgery at 3 months for lip, 6-12 months for palate.
670
How is listeria infection prevented?
Avoid dairy esp soft cheese like brie, ready-to-eat poultry.
671
How does fetal listeria infection present?
Early onset = rare and 30% mortality. Meconium stained liquor in preterm infants, widespread rash, septicaemia, pneumonia and meningitis.
Better prognosis if 'late onset' (>48h after birth)
672
What are the symptoms/complications of EBV infection?
```
Pharyngotonsillitis
Lymphadenopathy
Hepatomegaly
Thrombocytopaenia
Glomerulonephritis
Splenomegaly - potential rupture.
Fatigue, malaise, headache, fever.
Infectious mononucleosis 'mono'
Self-limiting
Chronic fatigue
Cancer - Burkitt's lymphoma
```
673
What causes an itchy rash in a patient who has been given amoxicillin for sore throat?
Widespread maculopapular pruritic rash a few days following EBV infection, in 99% of patients who take AMOXICILLIN while they have infectious mononucleosis.
Think teenager sharing cups at a party/kissing -> EBV -> sore throat -> gets given amoxicillin.
674
How is EBV transmitted?
Salivary transmission - kissing, sharing cups
675
How is EBV diagnosed?
Heterophile abs present >6 weeks after infection. Mix patient blood with horse or sheep blood (monospot and paul-bunnel tests respectively) - heterophile abs will react and give a positive response.
EBV abs: viral capsid antigen (VCA). IgM early/acute; IgG persistent/immune.
676
What are sanctuary sites in cancer treatment?
Areas not reached by chemotherapeutic agents.
| CNS and testes.
677
Which investigation should be used to monitor treatment response in Hodgkin's lymphoma?
Positron Emission Tomography (PET) scan.
| Uses radioactive tracer to show areas of active malignancy.
678
What are 'B symptoms'?
```
B cell -mediated symptoms in lymphoma and HIV.
These are:
unexplained fever
unexplained weight loss
drenching night sweats
```
679
How is DDH screened for? Give 5 risk factors.
```
Female (6x)
Breech
High birth weight
oligohydramnios
Prematurity
Screening in 6-8 week baby check using Barlow's and Ortalani tests.
```
680
How is DKA staged/classified?
```
Mild = pH 7.2-7.29, 5% dehydration
Moderate = pH 7.1-7.19, 7% dehydration
Severe = pH <7.1, 10% dehydration
```
681
How is DKA treated in children?
Correct dehydration evenly over 48 hours to dilute the hyperglycaemia and the ketones.
Give a fixed rate insulin infusion 0.05u/kg/hr. This allows cells to start using glucose again. This in turn switches off the production of ketones.
Avoid fluid boluses to minimise the risk of cerebral oedema, unless required for resuscitation. Monitor for signs of cerebral oedema.
Treat underlying triggers, for example with antibiotics for septic patients.
Prevent hypoglycaemia with IV dextrose once blood glucose falls below 14mmol/l.
Add potassium to IV fluids and monitor serum potassium closely.
Monitor glucose, ketones and pH to assess their progress and determine when to switch to subcutaneous insulin.
