Paeds Flashcards
(846 cards)
1
Q
What is croup?
A
common viral upper airway infection
affects children 6months - 3yrs
larynx inflammation causes barking cough, stridor and may have low fever
2
Q
Causes of croup
A
parainfluenza virus is most common cause
other viral causes = influenza A and B, measles, adenovirus, resp synctial virus
bacterial causes = staphylococcus aureus, streptococcus pneumoniae, haemophilius influenzae and moraxella catarrhalis
3
Q
How does croup spread?
A
droplet spread
outbreaks can occur in childcare settings eg school
most common in autumn
more common in males
4
Q
Croup pathophysiology
A
following coryzal prodrome, WBCs infiltrate larynx, trachea and large bronchi, causing inflammation
- this causes oedema, results in partial airway obstruction
- when significant, airway obstruction increases work of breathing and causes stridor
5
Q
Mild croup
A
- occasional barking cough
- no audible stridor at rest
- no or mild suprasternal and/or intercostal recession
- child happy and prepared to eat, drink and play
6
Q
Moderate croup
A
-frequent barking cough
- easily audible stridor at rest
- suprasternal and sternal wall retraction at rest
- no or little distress or agitation
- child can be placated and is interested in its surroundings
7
Q
Severe croup
A
- frequent barking cough
- prominent inspiratory (and occasionally expiratory) stridor at rest
- marked sternal wall retractions
- significant distress and agitation, or lethargy and restlessness
- tachycardia occurs w/ more severe obstructive symptoms and hypoxaemia
8
Q
When should a child be admitted for croup?
A
- moderate or severe croup
- <3months of age
- known upper airway abnormalities
- uncertainty about diagnosis
9
Q
Croup clinical features
A
coryzal prodrome which progresses over 12-48hrs to include:
- low fever <38ºC)
- hoarseness
- barking cough (worse at night)
- stridor - insidious and progressive
10
Q
Features of respiratory distress
A
tachypnoea
cyanosis
head bobbing
nasal flaring
subcostal and intercostal recession
suprasternal and sternal recession
diaphragmatic breathing
use of accessory muscles
11
Q
Croup investigations
A
clinical - barking cough and stridor
12
Q
Croup differentials
A
- viral upper resp tract infection - seal like barking cough less common
- bronchiolitis - causes wheeze
- epiglottitis - absence of barking cough, muffled hot potato voice
- foreign body aspiration - history, abrupt onset during daytime
- bacterial tracheitis - school-age, reluctant to cough due to pain
13
Q
Croup management
A
Supportive
Oral dexamethasone
Parents advised that symptoms usually resolves w/in 48hrs, and to escalate if stridor is hear or symptoms worsen
Arrange follow up
14
Q
Moderate - severe croup management
A
supportive
oral dexamethasone
nebulised epinephrine
supplemental oxygen
advise parents
children can be discharged home after 2-4hrs of obs following epinephrine, given no stridor at rest
15
Q
Croup complications
A
resp distress
pneumonia
pulmonary oedema
epiglottitis
bacterial tracheitis
16
Q
What is bronchiolitis?
A
acute bronchiolar inflammation seen in infants and young children
17
Q
What is the most common cause of bronchiolitis?
A
respiratory synctial virus (RSV) in 75-80% of cases
18
Q
Bronchiolitis clinical features
A
coryzal symptoms (including mild fever) precede:
- dry cough
- increasing breathlessness
- wheezing, fine inspiratory crackles (not always present)
- feeding difficulties associated w/ increasing dyspnoea
19
Q
Bronchiolitis investigations
A
immunofluorescence of nasopharyngeal secretions may show RSV
20
Q
Bronchiolitis management
A
supportive
nasal suction
oxygen
hydration
21
Q
Causes of asthma
A
- genetic: FH, predisposition
- environmental: allergens, air pollution, tobacco smoke
- infections: viral, bacterial
- sensitisation and atopy: eczema, food allergies
- sociodemographic: socioeconomic, urban v rural living
- lifestyle: dietary, physical activity
22
Q
Asthma definition
A
condition characterised by variable airflow limitation and airway hyper-responsiveness in response to number of stimuli
can eventually result in permanent airway remodelling and therefore limitations in reversibility of airflow limitation
23
Q
What is a HEADS assessment?
A
Home
Education
Activities
Drugs and alcohol
Suicidality / sex
24
Q
BINDS
A
Birth / perinatal
Immunisation
Nutrition / feeding
Developmental
Social
25
Normal development gross motor milestones
Newborn = flexed arms and legs, equal movements
3 months = lifts head on tummy
6 months = chest up w/ arm support, rolls
9 months = pulls to stand
1 yr = walking
2 yrs = walks up steps
3 yrs = jumps
4 yrs = hops
5 yrs = rides bike
26
Normal devlopment fine motor and vision milestones
4 months = grasp an object, uses both hands
8 months = takes cube in each hand
12 months = scribbles w/ crayon
18 months = builds tower of 2 cubes
3 yrs = tower of 8 cubes
27
Normal development speech, language and hearing milestones
3 months = laughs and squeals
9 months = 'dada' 'mama'
12 months = 1 word
2 yrs = 2 words sentences, names body parts
3 yrs = speech mainly understandable
4 yrs = knows colours, can count 5 objects
5 yrs = knows meaning of words
28
If they aren't walking by ... it is considered a red flag
18 months
29
Normal development social / self care milestones
6 weeks = smiles spontaneously
6 months = finger feeds
9 months = waves bye
12 months = uses spoon / fork
30
Cranial nerve exam in infants
Observe movements, scars, head shape, VP shunts etc
II = blink response to bright light, red reflex, visual fields via distraction
III,IV,VI = inspect for eye aligned in conjugate gaze, fix/follow and doll's eye manoeuvre, pupillary response
V = suck
VII = observe face
VIII = observe behavioural response to loud noise
IX, X = assess suck and swallow w/ feeding
XI = symmetry of neck movements, head control
XII = tongue movements during feeding / sucking
31
Child development red flags
Gross motor - not sitting by 1yr, walk by 18m
Fine motor - hand preference before 18m
SLT - not smiling by 3m, no clear words before 18m
Social - no response to carers interaction by 8wks, not interested in playing w/ peers by 3yrs
Regression
32
What is a macular rash?
non-palpable rash w/ colour changes in limited areas
eg measles, rubella
33
What is a papular rash?
palpable rash w/ raised, solid lesions and colour changes in limited areas up to 0.5cm
eg Gianotti-Crosti, pityriasis rosea
34
What is a vesicular rash?
elevate lesions that are filled w/ clear fluid <0.5cm
eg chicken pox, herpes simplex, herpes zoster
35
What is acute epiglottitis?
inflammation of epiglottis and surrounding supraglottic structures
can lead to airway obstruction, makes management critical
36
Acute epiglottitis causes
- most commonly bacterial infection, haemophilus influenzae type B
- Also streptococcus pneumoniae, grp A streptococci and staphylococcus aureus
- Viral and fungal infections, and non-infectious causes (eg thermal injury) also contribute
37
Acute epiglottitis clinical features
- rapid onset of severe sore throat and odynophagia
- muffled voice or 'hot potato' voice
- stridor
- resp distress
fever
tripod or sniffing position
38
Acute epiglottitis investigations
clinical
can use lateral neck radiographs, blood cultures and swabs, and flexible fiberoptic laryngoscopy
39
Acute epiglottitis management
- airway management
- antibiotics eg third-gen cephalosporins
- supportive care - IV fluids, analgesics, antipyretics
- monitoring and follow-up
- vaccinations
40
What is cystic fibrosis?
life-limiting autosomal recessive disorder caused by mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene, leads to production of thick, sticky mucus that obstructs organs, primarily affecting resp and GI systems
41
Where is there mutation in cystic fibrosis?
CFTR gene on chromosome 7
(F508del mutation most common)
42
Cystic fibrosis pathophysiology
CFTR protein regulates transport of chloride ions and bicarbonate across epithelial cell membranes
Malfunctioning results in chloride and water retention in cells
imbalance establishes sodium-rich environment outside cell, prompting sodium and water reabsorption
consequently, mucus becomes dehydrated and thickened
43
Cystic fibrosis resp system implications
- mucus accumulation in bronchi and bronchioles
- chronic infections
- progressive lung damage
44
Cystic fibrosis GI system implications
- pancreatic blockage, hindering release of digestive enzymes
- intestinal obstruction
- liver involvement / biliary duct obstruction
45
Cystic fibrosis reproductive system implications
Males = congenital bilateral absence of vas deferens - renders infertile
Females = thickened cervical mucus can lead to reduced fertility. Irregular menstrual cycles
46
Salt imbalance in cystic fibrosis
malfunctioning CFTR in sweat ducts results in diminished reabsorption of chloride, and sodium
imbalance leads to salty sweat, posing risks of dehydration and electrolyte imbalances, particularly during increased sweating
47
What are the 3 common causes of bronchiolitis?
RSV
rhinovirus
adenovirus
48
Common organisms causing respiratory infection
strep pneumoniae
haemophilus influenzae
pertussis
mycoplasma
influenza viruses
49
Breathlessness differentials in children
asthma
bronchiolitis
pneumonia
croup
foreign object
whooping cough
50
Causes of green vomit in neonates
malrotation / volvulus
duodenal atresia (double bubble)
51
What can cause projectile vomiting in children?
pyloric stenosis
52
Approach to radiology
- What is the clinical context - who/what/wh
- technically adequate?
- medical devices?
- Airway, air trapping?
- Breathing spaces - too black, too white?
- Cardiac / mediastinum
- Diaphragm / pleura
- Everything else - apices, bones, cardiac, diaphragm, edges
53
What do red current jelly stools usually mean?
intussusception - donut shape on scan
54
Causes of wheeze
asthma
bronchiolitis
viral induced wheeze
55
Causes of stridor
croup
foreign body aspiration
anaphylaxis
bacterial tracheitis
epiglottitis
56
What are the types of recession in breathing?
tracheal tug
supraclavicular
sternal
intercostal
subcostal
57
What is tested for on the newborn blood spot screening programme
cystic fibrosis
sickle cell
congenital hypothyroidism
phenylketonuria
MCADD (medium-chain acyl-CoA dehydrogenase deficiency)
maple syrup urine disease
isovaleric acidaemia
glutaric aciduria type 1
homocystinuria
58
Primary sign of CFTR dysfunction
GI tract w/ symptomatic meconium ileus, seen prior to newborn screening test
59
What is meconium ileus?
intestinal obstruction caused by abnormally thick and impacted first stool, causes abdominal distension, bilious green vomiting and failure to pass meconium in first few days of life
60
Clinical features of cystic fibrosis
chronic cough
recurrent wheeze
chronic resp infections
malabsorption in GI tract
failure to thrive
61
Resp manifestations of cystic fibrosis
persistent cough
wheezing and dyspnea
recurrent resp infections
nasal polyps and chronic sinusitis
62
GI manifestations of cystic fibrosis
meconium ileus
pancreatic insufficiency
distal intestinal obstruction syndrome
biliary cirrhosis
GORD
63
Endocrine manifestations of cystic fibrosis
cystic fibrosis related diabetes
growth failure
64
Reproductive manifestations of cystic fibrosis
male infertility
female fertility issues
65
Cystic fibrosis screening and diagnostic tests
newborn screening - blood spot test, measure elevated IRT lvls
sweat chloride test (>60 mmol/L)
genetic testing
66
Monitoring tests of cystic fibrosis
sputum culture
pulmonary function tests
chest radiography / CTs
blood tests
bone density assessments
67
Cystic fibrosis diagnosis
- child w/ no symptoms but a +ve screening test
- child w/ clinical features of CF, confirmed by sweat chloride or gene test results
- child w/ solely clinical features of CF, but sweat chloride or gene test normal
68
Cystic fibrosis management
- Airway clearance: chest physio, high-frequency chest wall oscillation, exercise
- Pharmacological: mucolytics, bronchodilators, anti-inflammatories, antibiotics, CFTR modulators
- Nutritional: pancreatic enzyme replacement therapy, fat-soluble vitamin supplementation, high energy diet
69
Management of cystic fibrosis complications
- Diabetes: regular screening and early intervention w/ insulin therapy and diet modification
- Liver disease: monitoring, early intervention w/ urseodeoxycholic acid
- Bone health: VitD and calcium supplementation, exercise, bisphosphonate therapy
Fertility: assisted reproductive tech
Lung transplantation
70
What causes the airflow obstruction of asthma?
- smooth muscle constriction: due to direct effects of contractile agonists released from inflammatory cells, accounts for rapid changes in airflow limitation
- mucous production: mucous hypersecretion and plugs
- bronchial inflammation: IgE-dependent release of mediators from mast cells, cause stimulation and contraction of smooth muscle. Results in further oedema and worsened airflow limitations
71
Mast cell mediators
histamine
tryptase
leukotrienes
prostaglandins
72
Asthma symptoms
episodes of wheezing, coughing and shortness of breath
73
74
Severe asthma exacerbation symptoms
altered mental state
maximal work of breathing accessory muscle use/recession
exhaustion
significant tachycardia
unable to talk
silent chest
75
Investigating suspected asthma aged 5 - 16
fractional nitric oxide
FeNO ≥ 35 ppb
If not available, measure bronchodilator reversibility w/ spirometry. Diagnose if
FEV1 increase ≥ 12% from pre-bronchodilator measurement, or
FEV1 increase ≥ 10% of predicted normal FEV
If not confirmed by these but still suspected, perform skin prick testing to house dust mite, or measure total IgE lvl and blood eosinophil count
76
Investigating suspected asthma in children under 5
treat w/ inhaled corticosteroids w/ regular review
attempt objective tests if still have symptoms at 5
refer to specialist resp paediatrician
77
What are eosinophils?
specifically involved in type 2 inflammation (key pathway in asthma), making them a targeted marker for disease activity
Release cytotoxic proteins like eosinophil peroxidase and major basic protein, which damage epithelial cells and perpetuate inflammation
Eosinophils are activated by IL-5 and other cytokines in T2 pathway, distinguishing them from neutrophils or lymphocytes
78
What is fractional exhaled nitric oxide?
lvl of nitric oxide produced by airway epithelial cells in response to eosinohpilic inflammation (hallmark of asthma)
pt exhales steadily into device, measured conc in parts per billion
79
What is IgE?
plays central role in allergic asthma by mediating hypersensitivity reactions through binding to high-affinity IgE receptors on mast cells and basophils
Upon allergen exposure, cross-linking of bound IgE triggers release of inflammatory mediators (histamine, leukotrines), leading to airway inflammation, bronchoconstriction and asthma symptoms
80
Give an example of anti-IgE therapy
omalizumab
81
Asthma differentials
Viral induced wheeze (<3)
bronchiolitis
protracted bacterial bronchitis
inhaled foreign body
cystic fibrosis
structural airway abnormality
82
Asthma management aged 5-16 (check if this has changed)
1. Short-acting beta agonist
2. SABA + low-dose inhaled corticosteroid
3. SABA + low-dose ICS + leukotriene receptor antagonist (LTRA)
4. SABA + ICS + LABA
5. SABA + switch ICS/LABA for maintenance and reliever therapy (MART)
6. SABA + paeds moderate-dose ICS MART
7. SABA + either: increasse ICS, trial of additional drug, or seek advice
83
Asthma management <5yrs
1. Short-acting beta agonist
2. SABA + 8wk trial of paed moderate dose ICS (start on low-dose and work up if symptoms resolved)
3. SABA + low-dose ICS + leukotriene receptor antagonist (LTRA)
4. stop LTRA and refer to specialist
84
What is maintenance and reliever therapy (MART)?
form of combined ICS and LABA treatment in a single inhaler, used for both daily maintenance therapy and relief of symptoms as required
85
What are the features of poorly controlled asthma?
3+ days per wk w/ symptoms or 3+ days per week requiring use of bronchodilator for symptomatic relief or 1+ night per wk awakening due to asthma symptoms
86
What is otitis media?
common infection of middle ear , may be bacterial or viral in nature
found mainly in <4s
often self resolve and no lasting effects
87
Microbial pathogens that cause otitis media
Bacterial:
streptococcus pneumoniae
haemophilus influenzae
moraxella catarrhalis
Viral:
respiratory syncytial virsu
influenza virus
rhinoviruses
88
Risk factors of otitis media
eustachian tube dysfunction
age - children more at risk
immunodeficiency
allergies
tobacco smoke exposure
bottle feeding
daycare attendance
89
What are the eustachian tubes?
allow ventilation and drainage of middle ear
any dysfunction can lead to -ve middle ear pressure, fluid accumulation and subsequent infection
90
Conditions affecting ciliary motility
cystic fibrosis
primary ciliary dsykinesia
Kartagener's syndrome
91
Otitis media pathophysiology
occurs 2ndary to oedema and narrowing of eustachian tube
Oedematous eustachian tube prevents middle ear from draining, predisposing it to bacteria colonisation
low pressure in middle ear can cause earache
rupture of TM will resolve pressure differential and relieve pain
92
Why are children predisposed to otitis media?
eustachian tubes are narrower and more prone to blockage
tubes are more horizontal, inhibiting drainage (this is why pinna is pulled down for paed exam)
children have less developed immune systems, more prone to upper resp tract infections, common cause of tube oedema
93
Acute v chronic otitis media
Can be w/ effusion
Chronic has a build up of fluid behind an intact TM, must be present for >3 months
Chronic suppurative = discharge present >2wks, persistent ear discharge through perforated tympanic membrane
94
Symptoms of otitis media
Otalgia (ear ache)
fever (around 50%)
hearing loss
recent viral URTI symptoms
ear discharge
95
Possible otoscopy findings in otitis media
bulging tympanic membrane - loss of light reflex
opacification or erythema of TM
perforation w/ purulent otorrhoea
decreased mobility if using pneumatic otoscope
96
Otitis media investigations
clinical examination
tympanometry - change outer ear pressure, play sound and analyse reflected sound waves degree of reflection
97
Otitis media diagnosis
- acute onset of symptoms: otalgia or ear tugging
- presence of middle ear effusion: bulging or TM, otorrhoea or decreased mobility of pneumatic otoscopy
- inflammation of TM
98
Otitis media differentials
impacted cerumen
otitis externa
foreign body
cholesteatoma
bullous myringitis
mastoiditis
labyrinthitis
conditions causing referred pain
99
Otitis media v otitis externa
otitis externa has erythematous ear canal +/- exudate
ensure visualisation of TM to exclude perforated OM or other signs of concurrent OM
100
Otitis media management
most cases resolve w/out antibiotics, manage pain w/ analgesia
Abx = amoxicillin, erythromycin or clarithromycin
if abx don't resolve, consider alternative diagnosis, referral
management to prevent recurrence = avoid passive smoking, avoid flat or supine feeding
101
What grps should be given abx for otitis media?
children <2 w/ bilateral OM
children <3 months w/ temp over 38
Om w/ ear discharge
those systemically unwell
those at high risk of complication
102
Otitis media complications
chronic OM
tympanic membrane perforation
hearing loss
mastoiditis
bacterial meningitis
extradural or subdural abscess
labrinthitis
facial paralysis
103
What is otitis externa?
Swimmer's ear
inflammatory condition affecting exernal auditory canal and pinna
acute <6wks or chronic
104
Otitis externa risk factors
water exposure
high humidity
trauma to auditory canal
narrow ear canals
immunosuppression
105
Causes of otitis externa
- Infection: Bacterial = staph aureus, pseudomonas aeruginosa
Fungal = aspergillus species and candida albicans
- Seborrhoeic dermatitis
- Contact dermatitis
106
Symptoms of otitis externa
ear pain
ear itch
ear discharge
107
Otitis externa otoscopy findings
view may be limited secondary to discharge, debris or swelling
red, swollen or eczematous canal
108
Otitis externa management
topical abx or combined topical abx w/ steroid
if tympanic membrane is perforated = aminoglycosides not used
debris = remove
if canal is extensively swollen then ear wick sometimes used
2nd line: consider contact dermatitis 2nd to neomycin
oral abx if infection spreads
taking swab inside canal
empirical use of antifungal agent
109
Otitis externa complications
malignant otitis externa more common in elderly diabetics - extension of infection into bony ear canal and soft tissues deep to bony canal
IV abx may be required
110
What is glue ear?
otitis media w/ effusion
fluid accumulation in middle ear
usually self-limiting and resolves w/in few months
111
Glue ear risk factors
age
seasonality (winter and early spring)
atopy (asthma, eczema, allergic rhinitis)
craniofacial abnormalities (cleft palate, Down syndrome)
112
Underlying causes of glue ear
Eustachian tube dysfunction leading to -ve pressure in middle ear, promoting transudation of fluid from surrounding tissues. Contributing factors =
infections
passive smoking
bottle feeding
113
Glue ear pathophysiology
1. Eustachian tube dysfunction causes retraction of tympanic membrane and pooling of secretions in middle ear
2. Inflammatory processes - increased mucus production by goblet cells and hypertrophy of mucosal glands in middle ear. Overproduction outpaces drainage capacity, leading to accumulation
3. Osmotic gradient - fluid contains high concs of glycoproteins and ions, draws water into middle ear from surrounding tissues
4. Biofilm formation by bacteria on mucosal surface in chronic cases, can resist abx treatment and host immune responses, contributing to persistence or reccurence
5. Viscous fluid-filled middle ear - glue ear. Dampens vibrations of tympanic membrane and ossicles
114
Glue ear typical presentation
child between 2-5 presents w/ hearing difficulties
child not responding to sounds or instructions as expected
may also exhibit speech and language delay due to impaired auditory input
115
Clinical features of glue ear
hearing loss
tinnitus
speech and language delay
behavioural changes
balance problems
116
Glue ear otoscopic exam
dull or retracted tympanic membrane w/ limited mobility on pneumatic otoscopy
visible bubbles or air-fluid lvl behind tympanic membrane indicating middle ear effusion
117
Glue ear differentials
acute otitis media
chronic suppurative otitis media
eustachian tube dysfunction
118
Glue ear management
majority resolve spontaneously w/in 3 months
encourage autoinflation (valsalva manoeuvre or politerisation)
surgery intervention:
myringotomy and grommet insertion
adenoidectomy
tympanostomy and balloon dilation
119
What is myringotomy and grommet insertion?
myringotomy = small incision in tympanic membrane
grommet = ventilation tube inserted into middle ear to equalise pressure and facilitate drainage of accumulated fluid
grommets typically fall out spontaneously after 6-12 months, during which time they must be monitored for complications eg otorrhoea, tympanic membrane perforation or scarring
120
Glue ear complications
hearing loss
speech and language delay
tympanic membrane atrophy or retraction
bacterial superinfection
mastoiditis
meningitis
121
What is periorbital cellulitis?
eyelid and skin infection in front of orbital septum where inflammation and infection remains confined to soft tissue layers superficial to orbital septum
122
What is orbital cellulitis?
post-septal infection involving orbit's soft tissues posterior to orbital septum
can cause optic nerve compression leading to vision loss
muscles of orbit affected, usually due to bacterial sinusitis
life-threatening
123
Risk factors of periorbital and orbital cellulitis
age <5
sinusitis
trauma
lack of Hib infection
boys
124
Underlying causes of periorbital and orbital cellulitis
staphylococcus aureus (MRSA)
streptococcus pneumoniae
haemophilus influenzae type B
bacteroides species
fungal cause can occur in immunocompromised or following trauma w/ soil or plants
125
Periorbital and orbital cellulitis pathophysiology
1. Initial infection typically occurs in adjacent structures (eg paranasal sinus)
2. Bacteria invades through direct extension or by haematogenous spread
3. Once inside tissue, bacteria releases endotoxins that trigger inflammatory response, results in increased vasc permeability leading to oedema and erythema, neutrophil recruited which phagocytose pathogens and release proteolytic enzymes causing further tissue damage
4. If not treated promptly, disease progresses and extends posteriorly to orbital fat and ocular muscles
126
Periorbital cellulitis classification
Primary = direct inoculation or extension from local facial or eyelid infections
Secondary = 2nd to sinusitis, particularly from ethmoid sinuses
127
Periorbital and orbital cellulitis severity classification
grp 1 inflammatory oedema
grp 2 orbital cellulitis
grp 3 subperiosteal abscess
grp 4 orbital abscess
grp 5 cavernous sinus thrpmbosis
128
Periorbital and orbital cellulitis presentation
unilateral eyelid erythema, oedema and tenderness
systemic - fever, malaise
ocular pain, impaired vision and restricted eye movement
proptosis in orbital cellulitis
129
Periorbital and orbital cellulitis investigations
CT sinus and orbits w/ contrast
MRI
bloods
130
Periorbital and orbital cellulitis differentials
allergic reaction
dacryocystitis - lacrimal sac infection
blepharitis - eyelid inflammation
131
Periorbital and orbital cellulitis management
abx - empiric IV after getting cultures (cefotaxime / clindamycin)
surgical intervention
close monitoring
prevent by ensuring up to date immunisations against strep pneumoniae and hemophilus influenzae tybe b
132
Periorbital and orbital cellulitis complications
subperiosteal abscess
cavernous sinus thrombosis
optic neuritis
meningitis
brain abscess
epidural abscess
sepsis
toxic shock syndrome
133
What is an atrial septal defect?
abnormal opening in atrial septum, allowing blood flow from left to right atria due to higher pressure in left
134
Atrial septal defect pathophysiology
oxygenated blood shunted from left to right, increasing pulmonary blood flow
augmented vol load on RHS leads to dilation of both atrium and ventricle
over time, vol overload can cause R vent hypertrophy due to increased workload, can also cause elevated pulmonary artery pressures
Increased pulmonary circulation causes enhanced venous return to LHS, potentially enlarging LA and LV
systemic cardiac output may be reduced despite overall increased cardiac work as portion of oxygenated blood recirculates
135
Consequences of chronically elevated pulmonary pressures
vasc changes w/in lungs, including medial hypertrophy and intimal proliferation w/in small pulmonary arteries
changes further exacerbate pulmonary HTN and can lead to Eisenmenger syndrome: reversal of shunt direction occurs due to significantly elevated right-sided pressures
136
Atrial septal defect classification
Ostium secundum ASD: most common (70%), central part of septum
Ostium primum ASD: endocardial cushion defect, abnormalities of AV valves
Sinus venosus ASD: near entry point of superior or inferior vena cava
Coronary sinus ASD: rare, unroofing of coronary sinus
137
Size of atrial septal defect
from small = <5mm to large = >15mm
138
Atrial septal defect investigations
echo - TTE (transthoracic) and TEE (transesophageal)
chest x-ray
EEG
cardiac MRI or CT
139
Atrial septal defect management
Evaluate w/ echo
Decision-making to close
Treat w/ percutaneous device closure, surgical repair or medical management
Post-procedure = recommend dual antiplatelet therapy for 6 months to prevent thrombus formation on device
140
Atrial septal defect complications
pulmonary HTN
RSHF
atrial arrhythmias
stroke
migraine w/ aura
pulmonary arteriovenous malformations
mitral valve prolapse
141
What are the types of viral induced wheeze?
episodic wheeze - symptom of viral URTI and symptom free in between events
multiple trigger wheeze - URTI and other factors trigger wheeze
142
Symptomatic treatment of viral induced wheeze
SABA inhaler via spacer 4hrly up to 10 puffs
LTRA and ICS via spacer
for multiple trigger wheeze = trial ICS or LTRA for 4-8wks
143
What is pneumonia?
LRT infection and lung parenchyma infection which leads to consolidation
144
Pneumonia epidemiology
highest incidence in infants
viral cause more common in young infants
bacterial more common in older children
viral disease more common in winter
145
Pneumonia causes
Neonates = grp B strep, E.coli, Klebsiella, Staph aureus
Infants = strep pneumoniae, chlamydia
School age = strep pneumoniae, staph aureus, grp A strep, mycoplasma pneumoniae
146
Pneumonia clinical presentation
usually precede URTI
fever
SOB
lethargy
signs of resp distress
On examination - dullness, crackles, decreased breath sounds, bronchial breathing
wheeze and hyperinflation more typical of viral infection
147
Pneumonia investigations
mainly clinical
CXR - fluid in lungs (associated w/ staph)
148
Pneumonia treatment
manage at home w/ analgesia
if admitted, oxygen therapy and IV fluids
Abx:
neonates = broad spec IVAbx
infants = amoxicillin / co-amox
over 5s = amox / erythromycin
149
Pneumonia complications
risk of parapneumonic collapse and empyema, follow up at 4-6wks w/ fluid sample
150
What is strabismus?
misalignment of the eyes
when not aligned, images on retina will not match and pt experiences double vision
151
Strabismus pathophysiology
on childhood, eyes haven't fully established connections w/ brain, brain copes by reducing signal from less dominant eyes
results in one dominant eyes and one eye which will be ignored
when left untreated, lazy eye becomes more and more disconnected from brain and problem worsens (abmblyopia)
152
Esotropia v Exotropia
Esotropia = inward position squint - affected eye deviates towards nose
Exotropia = outward position squint - affected eye deviated towards ear
153
What is a concomitant squint?
differences in control of extra ocular muscles
154
Hypertropia v hypotropia
hypertropia = upward moving affected eye
hypotropia = downward moving affected eye
155
Causes of squint
idiopathic
hydrocephalus
cerebral palsy
space occupying lesion eg retinoblastoma
trauma
156
Squint investigations
eye movements and inspection
fundoscopy
visual acuity
Hrischberg's test = shine torch from 1m away, when pt looks at light, observe reflection of light source on their cornea (should be central and symmetrical)
Cover test = cover one eye and ask pt to focus on object, move cover to other eye and watch movement of other eye and observe any exo/esotropia
157
Squint management
treatment must start before 8yrs
occlusive patch - cover good eye and force weak eye to develop
atropine drops in good eye - causes blurred vision and force weak eye to develop
158
Atrial septal defect causes
maternal smoking in 1st trimester
FH of CHD
maternal diabetes
maternal rubella
159
Atrial septal defect clinical presentation
tachypnoea
poor weight gain
recurrent chest infections
soft, systolic ejection murmur heard in 2nd intercostal space
wide, fixed split S2 sound
160
What is ventricular septal defect?
most common heart defect
opening in interventricular septum, causes left to right shunting, leading to increased pulmonary blood flow and right ventricular volume overload
161
Ventricular septal defect causes
Genetic = chromosomal disorders eg Down, Edwards, Patau, DiGeorge
Environmental = prenatal exposure to teratogens, maternal illness, advanced maternal age, premature birth
162
Ventricular septal defect pathophysiology
left-to-right shunt due to higher pressures in LV, oxygenated blood from LV pushed into RV instead of being ejected into systemic circulation via aorta
increases pulmonary blood flow, vol overload on both RS chambers
can cause hypertrophy and dilation of chambers
163
Moderate v severe ventricular septal defect
moderate = enlarged atria and ventricles, leads to pulmonary HTN and congestive HF
severe = severe pulmonary HTN and early onset HF
164
Ventricular septal defect clinical presentation
can be symptomless
pansystolic murmur at lower left sternal border
poor feeding
tachypnoea
dyspnoea
failure to thrive
165
Ventricular septal defect investigations
Echo - TTE, TOE
cardiac MRI
x-ray showing cardiomegaly
166
Ventricular septal defect differentials
atrial septal defect
patent ductus arteriosus
pulmonary stenosis
167
Ventricular septal defect management
diuretics - pulmonary congestion
ACE inhibitors to reduce systemic pressure
interventional cardiac catheterisation
surgical repair
168
Ventricular septal defect
Eisenmenger syndrome
heart failure
endocarditis
pulmonary HTN
aortic regurgitation
arrhythmias
stroke
169
What is tetralogy of fallot?
most common cyanotic congenital heart disease
overriding aorta
large VSD
pulmonary stenosis
R.vent hypertrophy
170
Tetralogy of Fallot causes
more common in males
rubella
increased age of mother (>40)
171
Tetralogy of Fallot pathophysiology
decreased r. vent flow
dilated and displaced aorta
Mild = asymptomatic but as heart grows, develops cyanosis aged 1-3
Moderate = cyanosis and resp distress in first few months of life
Extreme = often detected on antenatal scan, present w/ cyanosis in first few hrs of life
172
Tetralogy of Fallot presentation
irritability
cyanosis
clubbing
poor feeding
poor weight gain
ejection systolic murmur in pulmonary region (from pulmonary stenosis)
tet spells
173
Tetralogy of Fallot investigations
CXR - boot shaped heart
MRI / cardiac catheter
echo
174
Tetralogy of Fallot treatment
prostaglandin infusion PGE1 to maintain ductus arteriosus
beta blockers
morphine to reduce resp drive
surgical - repair under bypass 3months - 4yrs but needs ICU post op
175
Tetralogy of Fallot complications
pulmonary regurgitation
lifelong follow up
176
What is transposition of the great arteries?
aorta rises from right ventricle and pulmonary artery from left ventricle
177
Transposition of great arteries risk factors
more common in males
mum > 40
rubella
maternal diabetes
alcohol consumption
178
Transposition of great arteries pathophysiology
deoxygenated blood delivered systemically
mixing needs to be possible to sustain life - patent foramen ovale, VSD or patent ductus arteriosus must be present alongside
179
Presentation of transposition of great arteries
cyanosis in first 24hrs of life
R vent heave
loud S2 heart sound
systolic murmur if VSD present
sometimes PD / VSD can make symptoms however w/in a few wks they will develop resp distress, poor feeding etc
180
Transposition of great arteries diagnosis
low SATS
echo
CXR - egg on a string due to narrowed mediastinum and cardiomegaly
metabolic acidosis
181
Transposition of great arteries treatment
PGE1 infusion to ensure PDA and mixing of blood
surgical correction before 4wks
182
What is truncus arteriosus?
heart defect where only one large blood vessel comes out of heart instead of the two separate aorta and pulmonary artery
VSD usually present
blood mixes, heart has to pump harder, leads to HF
183
What is a patent ductus arteriosus?
persistent connection between aorta and pulmonary artery
normal in utero but usually closes w/in first 10-15 mins of life
causes left to right shunt
184
Patent ductus arteriosus risk factors
female
prematurity
185
Patent ductus arteriosus presentation
resp distress
apnoea
tachypnoea
tachycardia
continuous machinery murmur at left sternal edge
186
Patent ductus arteriosus diagnosis
echo
ECG / CXR
187
Patent ductus arteriosus management
cardiac catheterisation to close around 1yrs or sooner
in premature infants = indomethacin or ibuprofren - inhibits prostaglandin and stimulates closure
188
What is rheumatic fever?
develops following immunological reaction to recent (2-6wks ago) streptococcus pyogenes infection
can affect multiple organ systems eg heart, joints, skin and CNS
189
Rheumatic fever pathogenesis
- streptococcus pyogenes infection -> activation of innate immune system leading to antigen presentation to T cells
- B and T cells produce IgG and IgM antibodies and CD4+ T cells activated
- cross-reactive immune response (T2 hypersensitivity), mediated by molecular mimicry
- CW of streptococcus pyogenes includes M protein, virulence factor that's highly antigenic, antibodies against M protein cross-react w/ myosin and arteries smooth muscle
- response leads to features of rheumatic fever
190
What are Aschoff bodies?
small granulomatous lesions found in heart muscle in rheumatic fever
191
Rheumatic fever diagnosis
evidence of recent streptococcal infection and either 2 major criteria or 1 major w/ 2 minor
Major:
- erythema marginatum (non-pruritic erythematous macules or annular lesions w/ clear centres and well-defined margins on trunk and proximal extremities)
- Sydenham's chorea (involuntary movements, muscular weakness and emotional disturbance)
- polyarthritis
- carditis and valvulitis
- subcutaneous nodules
Minor:
- raised ESR or CRP
- pyrexia
- arthralgia
-prolonged PR interval
192
Rheumatic fever management
Abx - penicillin, erythromycin
anti-inflammatory therapy - aspirin or NSAIDs, corticosteroids
diuretics, ACE inhibitors, beta blockers for HF
anticonvulsants for Sydenham chorea
193
What is the most common cause of vomiting in infancy?
GORD
194
GORD risk factors
preterm delivery
neurological disorders
195
Clinical features of GORD
typically develops before 8wks
vomiting / regurgitation following feeds
196
GORD diagnosis
24-hr pH monitoring or pH impedence studies
197
GORD management
advise 30 degree head up position during feeding
infants should sleep on back as per guidelines
ensure infant not overfed, consider smaller and more frequent feeds
trial of thickened formula
trial of alginate therapy (gaviscon)
PPI not recommended in infants and children as isolated symptom
prokinetic agents only used w/ specialist advice
198
When should a PPI be considered for GORD in infants and children?
if there is:
unexplained feeding difficulties
distressed behaviour
faltering growth
199
GORD complications
distress
failure to thrive
aspiration
frequent otitis media
in older children dental erosion may occur
200
What percentage of children have a cow's milk protein intolerance/allergy? When does it present?
around 3-6% of all children
presents in first 3 months
201
Cow's milk protein intolerance / allergy classification
immediate (IgE mediated), seen w/in 2hrs of ingestion - CMPA
delayed (non-IgE mediated), up to 48hrs after ingestion - CMPI
202
Clinical features of cow's milk protein intolerance / allergy
diarrhoea
vomiting
abdo pain
faltering growth
constipation
eczema, rash
asthma-like symptoms
203
What other symptoms and conditions can cow's milk protein intolerance be associated with?
iron deficiency anaemia due to GI blood loss
behavioural changes eg irritability
sleep disturbance
204
Cow's milk protein intolerance / allergy investigations
dietary elimination (2-6wks) and reintroduction
skin prick test
specific IgE testing
205
Cow's milk protein intolerance / allergy differentials
lactose intolerance
GORD
eosinophilic oesophagitis
206
Cow's milk protein intolerance / allergy management if formula-fed
mild-moderate symptoms = extensive hydrolysed formula (eHF) milk
severe CMPA = amino-acid based formula
around 10% infants also intolerant to soya
207
Cow's milk protein intolerance / allergy if breast fed
continue breast-feeding
eliminate cow's milk protein from maternal diet, consider prescribing calcium supplements to mother
use eHF milk when breastfeeding stops, until 12 months of age and at least for 6months
208
What is infantile colic?
paroxysms of persistent and uncontrollable crying in an otherwise healthy infant
affects approx 15-20% of infants, more frequent in first 6wks of life
209
Causes of colic
faulty feeding techniques
infrequent burping
stressful pregnancy and birth
possible GI origin based on gut biomes
tobacco smoke and nicotine exposure
210
Clinical features of colic
Colic cry = louder, higher, screaming, more piercing/grating
unable to consoled, clear beginning and end with no explanation
facial flushing
tense abdomen
drawing legs up to abdomen
clenched fist
back arching
circumoral pallor
211
What is the Wessel criteria?
defines infantile colic:
- unexplained crying or fussiness (otherwise healthy, other causes ruled out)
- resolves by 3months
- lasts >3hrs a day
- occurs >3 days per week
- persists for >3 weeks
212
What red flags should be absent in infantile colic?
fever
diarrhoea, vomiting, abdo distension
reduced conscious state
signs of trauma
poor feeding
poor weight gain and growth
signs of developmental delay
213
Infantile colic differentials
normal crying
intussesception
cow's milk protein allergy
GORD
lactose overload / intolerance
UTI
214
Infantile colic management
caregiver education and support
appropriate feeding techniques
dietary changes
215
What is the most common cause of non-bilious vomiting in children?
pyloric stenosis
216
Risk factors of pyloric stenosis
male
firstborn
FH of pyloric stenosis
maternal smoking
bottle feeding
preterm birth
ethnicity - caucasian and hispanic
erythromycin
217
Clinical features of pyloric stenosis
projectile non-bilious vomiting - follows a feed, child hungry and irritable after episode
haematemesis in around 10%
weight loss / inadequate gain
dehydration
stool changes
firm, non-tender 1-2cm mass in URQ of abdo
visible peristalsis
218
Signs of dehydration in infants
sunken fontanelles
sunken eyes
dry mucous membranes
poor skin turgor
decreased tearing
lethargy
tachycardia
prolonged CRT
decreased urine output
219
Excess vomiting leads to...
severe hypochloraemic, hypokalaemic dehydration
w/ metabolic alkalosis
220
What is pyloric stenosis?
result of hypertrophy of pylorus muscles of stomach leading to gastric outlet obstruction
infant well at birth then present w/ vomiting from 2-8wks
221
Pyloric stenosis classical triad
palpable pyloric mass
visible peristalsis
non-bilious, forceful projectile vomiting
222
Investigations of pyloric stenosis
classical triad
assessment of degree of dehydration
weight and height tracked
blood gas
'target sign' on US, pyloric thickness >3mm and length >15-17mm
223
Pyloric stenosis differentials
intestinal malrotation and volvulus
duodenal atresia
necrotising enterocolitis
tracheoesophgeal fistula
meconium ileus
Hirschsprung
GORD
224
Pyloric stenosis management
correct metabolic imbalances - NaCl
fluid bolus for hypovolemia
NG tube and aspiration of stomach
Ramstedt's pyloromyotomy
225
Pyloric stenosis complications
dehydration
weight loss
electrolyte disturbance
from surgery: anaesthetic risk, persistent vomiting if incomplete, mucosal perforation, infection, foveolar cell hyperplasia
226
Dysphagia vs GORD
dysphagia may be due to anatomical abnormalities, neuro disorders or functional issues
GORD characterised by frequent regurgitation associated w/ complications like poor weight gain, distress or resp symptoms
227
What is Hirschsprungs disease?
nerve cells of myenteric plexus are absent in distal bowel and rectum, specifically parasympathetic ganglionic cells resulting in lack of peristalsis
228
Hirschsprungs disease risk factors
90% present in neonatal period
average = 2 days old
males
Down's syndrome
229
Hirschsprungs disease pathophysiology
most common = short segment, disease confined to rectosigmoid part of colon
ganglion cells of submucosal plexus not present
failure of peristalsis and bowel movements causing obstruction
can lead to bacterial build up and enterocolitis and sepsis
230
Hirschsprungs disease presentation
failure to pass meconium (w/in 48 hrs of birth)
abdo distension
bilious vomiting
palpable faecal mass in LL abdo
empty rectal vault
231
Hirschsprungs disease investigations
rectal suction biopsy - test for ganglionic cells in anyone who has:
- delayed meconium passage
- constipation in first few wks
- chronic abdo distension
- +ve FH
- faltering growth
contrast enema
232
Hirschsprungs disease management
IV Abx
bowel decompression
NG tube
surgery - Swenson, Soave, Dunhamel pull through surgery
233
What is intussusception?
one piece of bowel telescopes inside another, leading to ischaemia and bowel obstruction
most common in distal ileum at ileocecal junction
most common cause of obstruction in neonates
234
Intussusception risk factors
3months - 3yrs
CF
Meckel's diverticulum
HSP
rotavirus vaccine >23 wks
235
Intussusception presentation
colic abdo pain
pallor
sausage shaped mass palpable in RUQ
redcurrant jelly stools
abdo distension
shock
peritonitis (guarding, rigidity, pyrexia)
236
Intussusception investigations
USS - target shaped mass
abdo x-ray - distended small bowel, absence of gas in large bowel
237
Intussusception treatment
med emergency
IV fluids
air enema using US to stretch bowel walls and reduce, if unsuccessful, surgery to manually repair
Abx (gentamicin) if perforated or peritonitis
238
What is necrotising enterocolitis?
acute inflammatory disease affecting preterm neonates leading to bowel necrosis and multi system organ failure
most common surgical emergency in neonates
239
Necrotising enterocolitis causes
low birth weight (1500g)
in first 2 wks of life
prematurity
Abx therapy >10 days
genetic
240
Necrotising enterocolitis presentation
new feed intolerance
vomiting and bile
fresh blood in stools
abdo distension
reduced bowel sounds
palpable abdo mass
visible intestinal loops
sepsis
241
Necrotising enterocolitis investigations
bloods - thrombocytopenia, neutropenia
cultures
blood gas - acidotic
USS - air in portal system, ascites, perforation
XR - Rigler's sign
242
What is seen on an x-ray in necrotising enterocolitis?
Rigler's - both signs of bowel are visible due to gas in peritoneal cavity
dilated bowel loops
distended bowel
thickened bowel wall
air outlining falciform ligament
243
Necrotising enterocolitis management
nil by mouth
bowel decompression by NG tube
IV cefotaxime
surgery to remove necrotic bowel
244
What is Meckel's diverticulum?
congenital diverticulum of small intestine containing ileal, gastric and pancreatic mucosa, pouch-like structure forms as remnant of the vitelline duct
2cm from ileocecal valve
occurs in 2% of population
245
What supplies Meckel's diverticulum?
ompthalomesenteric artery
246
Meckel's diverticulum presentation
abdo pain
rectal bleeding in children 1-2yrs
obstruction due to intussusception and volvulus
at risk of peptic ulceration
247
Meckel's diverticulum management
removal if symptomatic - resection
248
what is biliary atresia?
obstruction of biliary tree due to sclerosis of bile duct, reducing blood flow
249
Biliary atresia risk factors
female
neonatal cholestasis 2-8wks
associated w/ CMV
congenital malformations
250
Biliary atresia presentation
jaundice post 2 wks
dark urine
pale stolls
apetite disturbance
hepatosplenomegaly
abnormal growth
duodenal atresia - presents in first 24hrs of life, more common in trisomy 21
250
Biliary atresia pathophysiology
T1 = common duct is obliterated
T2 = atresia of cystic duct in porta hepatis
T3 = most common, atresia of right and left ducts at lvl of porta hepatis
251
Biliary atresia investigations
serum bilirubin - high conjugated bilirubin
raised LFTs
alpha 1 antitrypsin - rule out
sweat test - rule out CF
USS - structural abnormalities
252
Biliary atresia management
surgical dissection of abnormalities - Kasai procedure
Abx
253
Biliary atresia complications
cirrhosis
Hepatocellular carcinoma
progressive liver disease
254
Neonatal jaundice pathophysiology
breakdown of in-utero Hb
immature liver can't break down high bilirubin concentrations
255
Physiological v pathological v prolonged neonatal jaundice
pathological = onset <24hrs
physiological = starts 2-3 days, peak at day 5, usually resolves by 14 days
prolonged = >14 days in term infants, 21 days in preterm
256
Neonatal prolonged jaundice causes
biliary atresia
hypothyroidism
breast milk jaundice (resolves 1.5-4 months)
UTI / infection
257
Pathological neonatal jaundice causes
G6PD deficiency
spherocytosis
258
Physiological jaundice causes
prematurity
small for dates
previous sibling w/ neonatal jaundice
259
Neonatal jaundice presentation
yellow colour
drowsiness
signs of infection
260
Neonatal jaundice investigations
TCB (transcutaneous bilirubin) - used over 35 wks gestation, non-invasive
serum bilirubin
total and conjugated bilirubin
Coombs test
infection screen
261
Neonatal jaundice management
treatment threshold graphs for specific gestation
phototherapy for above threshold
below threshold have lvls monitored and rechecked w/in 24hrs
repeat bilirubin 4-6 hrs after commencing phototherapy and 6-12 hrly once lvls stabilise
stop phototherapy once over 50umol/L of treatment line
recheck 12-18hrs after stopping
If severe = exchange transfusion
262
Complications of neonatal jaundiace
Kernicterus - bilirubin induced encephalopathy and irreversible neurological damage
> 360umol/L
263
What is an exchange transfusion?
used in severe jaundice cases (rise of >8.5umol/L/hour) , and signs of kernicterus
exchange of blood w/ donated plasma to decrease lvl of circulating bilirubin
via umbilical artery or vein
264
Causes of organic failure to thrive
GI - GORD, IBD, CMPA
metabolic - coeliac, CF
thyroid disorders
chronic - congenital heart disease
infections - HIV, TB
265
Causes of non-organic failure to thrive
behavioural issues
family dynamics
usually attributed to inadequate caloric intake
266
What is failure to thrive?
condition of insufficient weight gain or inappropriate growth in infants and children
manifestation of underlying medical or psychosocial issues
267
Secondary causes of constipation
Hirschsprung's disease
CF
hypothyroidism
spinal cord lesions
sexual abuse
intestinal obstruction
cows milk intolerance
268
Constipation clinical presentation
<3 stools a wk
hard stools that are difficult to pass
rabbit dropping stools
straining and painful passage of stools
abdo pain
overflow soiling caused by faecal impaction
palpable hard stools in abdomen
269
Constipation management
correct any reversible contributors eg high fibre diet, good hydration
movicol - laxative
disimpaction regimen may be needed w/ high dose laxative at first, followed by half disimpaction dose as maintenance
270
What's the most common cause of UTIs in children?
Escherichia coli (80%)
others include klebsiella pneumonia, proteus mirabilis, enterococcus spp, staphyloccocus saprophyticus
271
Features of a LUTI (cystitis)
dysuria
frequency
urgency
haematuria
suprapubic pain or tenderness
foul-smelling urine
enuresis
272
Features of an UUTI (pyelonephritis)
fever
flank pain or costovertebral angle tenderness
abdo pain
nausea and vomiting
lethargy or irritability
poor feeding or failure to thrive
273
UTI management
<3 months = refer
>3 months, UUTI = consider admission, oral abx (cephalosporin or co-amox x7-10days)
>3 months, LUTI = oral abx x3days (trimethoprim, nitrofurantoin, cephalosporin or co-amox)
abx prophylaxis not given after first UTI but should be considered w/ recurrent UTIs
274
What is Down's syndrome?
genetic disorder
extra copy of chromosome 21, 3 copies total
1/700 live births
275
Down's syndrome risk factor
increase risk w/ increasing maternal age
30 yrs = 1/1000
35 yrs = 1/300
40yrs = 1/100
276
What is the most common mode of Down's syndrome?
nondisjunction = 94%
Robertsonian translocation = 5%
mosaicism = 1%
277
What is mosaicism?
presence of 2 genetically different populations of cells in the body
278
Down's syndrome clinical features
hypotonia
small head w/ flat back
short neck
short stature
flattened face and nose
low set ears
single palmar crease
prominent epicanthic folds
upward sloping palpebral fissures
279
Complications of Down's syndrome
cardiac = endocardial cushion, vent septal defect, secundum atrial septal defect, tetralogy of fallot
subfertility
learning difficulties
short stature
repeated resp infections
acute lymphoblastic leukaemia
hypothyroidism
Alzheimer's
atlantoaxial instability
vision and hearing problems
280
Screening for Down's syndrome
combined test - 11-14wks, US looking at thickness on back of neck (thickened) and beta-HCG (raised) and PAPPA (reduced)
if women book later in pregnancy either triple or quadruple test offered between 15-20wks
281
Triple and quadruple Down's syndrome test
triple = 14-20wks, beta-HCG (raised), AFP (low), serum oestriol (low)
quadruple = triple + inhibin-A (high)
282
Down's syndrome management
MDT approach
regular screening of complications - echo, thyroid checks, eye checks and audiometry
283
What is epilepsy?
umbrella term for tendency to have seizures which are transient episodes of abnormal electrical activity in the brain
284
What are the types of seizures?
generalised tonic-clonic
focal
absence
myoclonic
tonic / atonic
285
What are generalised tonic-clonic seizures?
loss of consciousness w/ tonic (rigidity) and clonic (rhythmic jerking)
phase w/ possible tongue biting, incontinence, groaning and irregular breathing
postictal period - confused, drowsy and irritable
286
Generalised tonic-clonic seizure management
sodium valproate
lamotrigine
carbamezapine
287
What are focal seizures?
begin in temporal lobes and affects speech, memory and emotions
can present w/ hallucinations, memory flashbacks and deja vu
288
Focal seizure management
lamotrigine
levetiracetam
289
What is an absence seizure?
most common in children, become blank and stare into space then abruptly return to normal
unaware of surroundings during
10-20 secs
290
Absence seizures management
stop with age
ethosuximide
291
What are myoclonic seizures?
sudden brief muscle contractions where person remains awake
often part of juvenile myoclonic epilepsy
292
Myoclonic seizure management
sodium valproate
levetiracetam
293
What are tonic/atonic seizures?
sudden tension/stiffness affecting body
294
Tonic / atonic seizure management
sodium valproate
lamotrigine
295
Epilepsy investigations
full history
EEG after second simple tonic-clonic seizure
MRI brain
blood electrolytes, glucose, cultures and LP considered
296
Management of acute seizures
recovery position if possible
soft under head
remove obstacles
make note of start and end time
call ambulance if >5mins
297
Sodium valproate side effect
teratogenic
liver damage
hair loss
temors
298
Carbamezapine side effects
agranulocytosis
aplastic anaemia
299
Ethosuximide side effects
night tremors
rashes
N & V
300
Lamotrigine side effects
DRESS syndrome (Drug Reaction with Eosinophilia and Systemic Symptoms)
leukopenia
301
What is status epilepticus?
med emergency
seizure >5 mins or 2 or more seizures w/out regaining consciousness
management = secure airway, high conc o2, assess cardiac and resp function
IV lorazepam, repeat after 10mins
buccal and rectal available in community
302
What are febrile convulsions?
seizure + high fever 6months - 5yrs
simple = generalised tonic clonic, <15mins, once during febrile illness
complex = focal, >15mins or multiple times during same illness
303
Febrile convulsions investigations
rule out other causes eg epilepsy, syncopal episode, trauma, space-occupying lesions and neurological infection
304
Febrile convulsions management
identify and manage infection
control fever w/ simple analgesia
parental education
(prognosis slightly higher for epilepsy in future)
305
What is eczema?
atopic dermatitis
common chronic inflammatory skin disorder characterised by pruritus and xerosis
306
Eczema pathophysiology
defects in normal continuity of skin barrier
provides entrance for irritants, microbes and allergens that create immune response, leads to inflammation
307
Eczema clinical presentation
usually in infancy
dry, red, itchy skin w/ sore patches over flexor surfaces (elbows, knees) and face and neck
often episodic w/ flares
308
Eczema management
Maintenance = emolients eg E45, diprobase, use often, after washing and before bed to create artificial barrier over skin
Flare ups = thicker emolients eg cetraben ointment or topical steroids eg hydrocortisone and betnovate (beclomethasone), help keep moisture locked overnight
specialist treatment = topical tacrolimus, oral corticosteroids and methotrexate
309
What is eczema hepeticum?
viral skin infection in pts w/ eczema caused by herpes simplex virus or varicella zoster virus
309
Eczema herpticum presentation
widespread, painful, vesicular rash w/ systemic symptoms
lymphadenopathy
310
Eczema herpeticum management
viral swabs of vesicles, treatment usually started based on clinical appearance
Aciclovir - oral or IV
311
Eczema herpeticum complications
life-threatening in immunocompromised
bacterial superinfection - Abx
312
What is Stephens-Johnson syndrome?
disproportional immune response causing epidermal necrosis resulting in blistering and shedding of top layer of skin - <10% of body surface area
313
What medications can cause Stephens-Johnson syndrome?
anti-epileptics
antibiotics
allopurinol
NSAIDs
314
What infections can cause Stephens-Johnson syndrome?
herpes simplex
mycoplasma pneumonia
cytomegalovirus
HIV
315
Stephens-Johnson syndrome presentation
mild - severe - fatal
non-specific = fever, cough, itchy skin, sore throat, eyes and mouth
purple / red rash - spreads across skin and blisters, breaks away and leaves raw tissue underneath
pain, blistering and shedding of lips and mucous membranes
inflammation and ulceration of eyes
can affect urinary tract, lungs and internal organs
316
Stephens-Johnson syndrome management
med emergency - supportive
steroids, immunoglobulins and immunosuppressants
317
Stephens-Johnson syndrome complications
secondary infection - cellulitis, sepsis
permanent skin damage
318
What is urticaria?
hives
small, itchy lumps which appear on skin and may be associated w/ angioedema
319
Urticaria pathophysiology
release of histamine and other pro-inflammatory chemicals by mast cells in skin
may be part of allergic reaction in acute urticaria or an autoimmune reaction in chronic idiopathic urticaria
320
Causes of urticaria
allergies to food, medications or animals
contact w/ chemicals, latex or stinging nettles
medications
viral infections
insect bites
321
What is chronic urticaria?
autoimmune
autoantibodies target mast cells and trigger them to release histamines and other chemicals
322
Urticaria management
antihistamines
chronic = fexofenadine
oral steroids for flare ups
omalizumab - targets IgE
323
What is nappy rash?
contact dermatitis in nappy area, normally caused by friction between skin and nappy and contact w/ urine and faeces
9-12 months commonly
324
Nappy rash complications
- severe and long standing rash can lead to erosion and ulceration
- breakdown of skin and warm moist environment can lead to candida (fungus) or bacteria infection (staphylococcus / streptococcus)
325
Nappy rash risk factors
delayed changing of nappies
irritant soap products and vigorous cleaning
diarrhoea
preterm infants
oral abx predispose to candida
326
Nappy rash presentation
sore, red, inflamed skin in nappy areas
no rash on creases of groin
rash may be itchy and infant may be distressed
327
Differentiating candida (thrush) vs nappy rash
candida signs =
rash extending into skin folds
large red macules
well demarcated scaly border
circular pattern to rash, spreading outwards
satellite lesions - small, similar patches of rash near main rash
328
Nappy rash management
switch to highly absorbent nappies
change nappy and clean skin asap after wetting
use water or gentle alcohol free products
ensure nappy area dry before replacing nappy
maximise time w/out nappy
infection? antifungal / abx cream
329
What is a non-blanching rash?
skin rash DOES NOT fade when pressed or when viewed through a glass
caused by bleeding under skin
needs immediate investigation due to risk of meningococcal sepsis
330
Petechiae v purpura
Petechiae = small, non-blanching red spots on skin caused by burst capillaries
Purpura = larger, non-blanching, red-purple macules or papules caused by leaking of blood from vessels under skin
331
Non-blanching rash differentials
mengingococcal septicaemia
Henoch-Schönlein purpura
Immune Thrombocytopenic Purpura
Leukaemias
Haemolytic Uraemic Syndrome
Mechanical - strong coughing, vomiting, breath holding
Traumatic - tight pressure on skin
viral illness
332
Non-blanching rash investigations
FBC
U&E
CRP
ESR
blood cultures
meningoccocal PCR
LP
BP
urine dipstick
333
Anaphylaxis causes
85% = food allergy w/ IgE mediated response causing significant resp / CV compromise
drugs
insect stings
latex
exercise
idiopathic
334
Anaphylaxis management
Acute = early administration of adrenaline
Long term = detailed plan for allergy avoidance and presence of adrenaline auto-injectors
335
What grp is anaphylaxis common?
children <5
food allergy
most fatal in adolescence
336
What is Kawasaki's disease?
mucocutaneous, lymph node syndrome
systemic medium-sized vessel vasculitis
typically <5s w/ no clear trigger
more common in boys, usually japanese and korean children
337
Kawasaki's disease presentation
persistent high fever >5days
unwell and unhappy child
widespread erythematous maculopapular rash and desquamation on palms and soles
strawberry tongue
cracked lips
cervical lymphadenopathy
bilateral conjunctivitis
338
Kawasaki's disease investigations
FBC - anaemia, leukocytosis, thrombocytosis
LFTs - hypoalbuminemia
raised ESR
urinalysis - raised WBC
echo - rule out coronary artery aneurysms
339
Kawasaki's disease courses
Acute Phase = child unwell w/ fever, rash and lymphadenopathy (1-2wks)
Subacute Phases = acute symptoms will settle but arthralgia and risk of coronary artery aneurysms form (2-4wks)
Convalescent Stage = remaining symptoms return back to normal and blood rests return to normal (2-4wks)
340
Kawasaki's disease management
high dose aspirin - reduce thrombosis risk
IV immunoglobulins
public health informed
341
What is meningitis?
inflammation of meninges
neisseria meningitidis = gram -ve diploccocus bacteria which occur in pairs
meningococcal meningitis = bacteria infecting meninges and CSF
342
Most common bacterial cause of meningitis
neisseria meningitidis and streptococcus pneumoniae
343
Most common meningitis cause in neonates
Grp B strep
contracted during birth from GBS bacteria that live in mother's vagina
344
Meningitis clinical presentation
fever
neck stiffness
vomiting
headache
photophobia
altered consciousness
seizures
345
Neonates and babies meningitis presentation
hypotonia
poor feeding
lethargy
hypothermia
bulging fontanelle
346
Meningitis examination tests
Kernig's = lay on back, flex one hip and knee then straighten knee whilst keeping hip flexed, pain/resistance seen in meningitis
Brudzinski's = lay on back, lift head and neck off bed and flex chin to chest, involuntary flexion of hips and knees
347
Signs you should do an LP?
all children <1m w/ fever
1 - 3m w/ fever and unwell
<1yr w/ unexplained fever and other signs of serious illness
348
Meningitis management
Community = stat injection of benzylpenicillin, transfer to hospital
Hospital = blood culture and LP before abx, meningococcal PCR sent
< 3m = IV cefotaxime + IV amoxicillin
> 3m = IV ceftriaxone
dexamethasone sometimes used
public health informed
single dose of ciprofloxacin given as post exposure prophylaxis
349
Viral meningitis
most common cause = HSV, enterovirus and VZV
CSF sample sent for PCR
only supportive treatment needed, sometimes aciclovir used
350
Bacterial meningitis CSF
cloudy
high proteins
low glucose
high WCC - neutrophils
bacteria culture
351
Viral meningitis CSF
Clear
mildly raised or normal protein
normal glucose
high WCC - lymphocytes
negative culture
352
How is measles spread?
initial exposure through droplet spread
highly infectious during viral shedding
353
Measles clinical presentation
fever
Koplik spots (blue, white spots on inside cheek)
conjunctivitis
coryza
cough
rash - spreads down from behind ears to whole of body - maculopapular
354
Measles management
supportive depending on symptoms
avoid school x5days after initial rash development
notify public health
355
Measles complications
otitis media (most common)
pneumonia
febrile convulsions
encephalitis / subacute sclerosing panencephalitis
356
What is chickenpox?
common virus spread by respiratory droplets
v infectious during viral shedding
357
Chickenpox presentation
fever
vesticular rash beginning on head and trunk which spreads to peripheries
itching can lead to permanent scars / secondary infection
358
Chickenpox management
symptomatic treatment
immunocompromised = aciclovir
avoid school until lesions have crusted over
359
Chickenpox complications
bacterial superinfection
pneumonitis
DIC
360
What is rubella?
generally mild disease in childhood which occurs in winter and spring
incubation period = 15-20 days
spread through resp contact
361
Rubella presentation
low grade fever
maculopapular rash on face which then spreads across whole body
362
Rubella management
no treatment necessary
diagnosis confirmed serologically if there's any risk of exposure for non-immune pregnant women
363
Rubella complications
arthritis
encephalitis
myocarditis
364
What is diphtheria?
infection which causes local disease w/ membrane formation affecting nose, pharynx or larynx or systemic disease w/ myocarditis and neurological manifestations
generally eradicated in UK
365
What is scalded skin syndrome?
Ritter's disease
caused by exfoliative staphylococcal toxin which causes separation of epidermal skin through granular cell layers
366
Scalded skin syndrome presentation
fever
malaise
purulent, crusting, localised infection around eyes / nose / mouth w/ widespread erythema and tenderness
areas of epidermis separate on gentle pressure (Nikolsky sign) leaving denuded areas of skin which then dry and heal w/out scarring
367
Scalded skin syndrome management
IV anti-staph abx = flucloxacillin
analgesia
fluid balance
368
What is tuberculosis?
severe infectious disease affecting lungs
increased incidence in pts w/ HIV and emergency of drug resistant strains
spread through resp droplets
TB infection is latent and more likely to progress to TB disease in infants and young children, but children will generally not be infectious compared to adults
369
Tuberculosis presentation
- children may be asymptomatic
- if local infection response fails, can spread through lymphatic system causing fever, anorexia and weight loss
- cough and CXR changes - hilar lymphadenopathy
- enlargement of peribronchial lymph nodes - consolidation, bronchial obstruction and pleural effusions
- can affect gut, skin and superficial lymph nodes
370
Why may children be asymptomatic with tuberculosis?
local inflammatory reaction limits progression of disease
however it remains latent
Mantoux test may become +ve
371
Post-primary tuberculosis
dormant stage occurs initially, this can be reactivated and presents w/ post-primary TB
infection can be local or can spread across systems including bones, joints, kidneys and CNS (can lead to TB meningitis)
372
Tuberculosis investigations
sputum samples can be difficult, gastric washings on 3 consecutive mornings can be obtained to culture acid-fast bacilli through NG tube
Mantoux tests - can be +ve due to past vaccination rather than infection
IGRA = new blood test used to assess response of T cells to antigens found in TB but not BCG vaccine
373
Tuberculosis management
RIPE
Rifampicin
Isoniazid
Pyrazinamide
Ethambutol
reduced to rifampicin and isoniazid after 2m
whole therapy lasts 6m
after puberty, pyridoxine given weekly to minimise peripheral neuropathy side effects of isoniazid
Contract tracing - essential as children pick up infection from adults
374
Causes of HIV in children
mother-child transmission during pregnancy, at delivery or through breast feeding
affects over 2million children a yr
375
HIV investigations
> 18m = presence of antibodies is diagnostic
< 18m = HIV DNA PCR, antibodies may be present from merely exposure not active infection
376
HIV presentation
proportion of infants progress rapidly to symptomatic disease and AIDS in first year of life, most children remain asymptomatic for several yrs
mild immunosuppression = lymphadenopathy
moderate immunosuppression = recurrent bacterial infections, chronic diarrhoea, lymphocytic interstitial pneumonitis
severe AIDS = pneumocystis jirovecii pneumonia, severe faltering growth and encephalopathy
377
HIV infection treatment
antiretroviral therapy started in all infants and some older children depending on clinical status, HIV load and CD4 count
Immunisations - higher risk of infections
MDT approach
Regular follow up - weight, development and clinical signs of disease
378
HIV transmission reduction
- mothers who are +ve given antiretroviral drugs to reduce viral load at time of delivery
- avoid breastfeeding and active management of labour and delivery to prevent prolonged membrane rupture
- if breastfeeding can't be avoided, antiretroviral drugs should be given to both mother and baby
379
What is enccephalitis?
inflammation of the brain which can be either infectious or non-infectious (usually autoimmune)
380
Causes of encephalitis
viral (but bacterial and fungal are also possible)
most common = herpes simplex 1 from cold sores in children
herpes simplex 2 in neonates from genital herpes contracted during birth
VSV associated w/ chickenpox, EPV, enterovirus, adenovirus and influenza
381
Encephalitis presentation
altered consciousness
altered cognition
unusual behaviour
acute onset focal neurological symptoms
acute onset focal seizures
fever
382
Encephalitis investigations
LP - send CSF fluid for PCR testing
CT if LP contraindicated
MRI after LP for visualisation
HIV testing recommended
383
Encephalitis management
aciclovir to treat herpes and VZV
ganciclovir to treat cytomegalovirus
repeat LP needed to ensure successful treatment before antivirals are stopped
384
Encephalitis complications
lasting fatigue
change in personality / mood / memory / cognition
headaches and chronic pain
sensory disturbance
seizures
385
What is slapped cheek syndrome / fifth disease?
parvovirus B19 causes erythema infectiosum
outbreaks common during spring months and transmission via resp secretions from infected patients / mother to foetus
infects erythroblastosis red cell precursors in bone marrow
386
Slapped cheek syndrome presentation
- asymptomatic infection
- erythema infectiosum - most common illness w/ fever, headache and myalgia followed by characteristic rash on face which progresses to maculopapular rash on trunk and limbs
- aplastic crisis
- foetal disease where transmission can lead to foetal death due to severe anaemia
387
What is aplastic crisis?
occurs in children w/ haemolytic anaemia where there's increased rate of red cell turnover and immunodeficiency
388
Slapped cheek syndrome management
supportive therapy
389
What is impetigo?
superficial bacterial skin infection usually caused by staphylococcus aureus bacteria
'golden crust' characteristic
390
Non-bullous impetigo
- typically occurs around nose or mouth and exudate from lesions dries to form golden crust
- children will have no systemic symptoms and won't be unwell
- localised = topical fusidic acid or antiseptic cream
- widespread = oral flucloxacillin
- pts should avoid touching or scratching lesion
391
Bullous impetigo
- always caused by S.aureus which produces toxins that break down proteins that hold skin together, causing 1-2cm fluid filled vesicles to form on skin which then burst, forming golden crust
- more common in neonates and children <2 and pts have systemic symptoms
- swab vesicles to confirm diagnosis to help tailor abx management, usually flucloxacillin
392
Impetigo complications
sepsis
scarring
post strep glomerulonephritis
scarlet fever
staphylococcal scalded skin syndrome
393
Toxic shock syndrome causes
toxin producing staphylococcus aureus and grp A streptococci
394
Toxic shock syndrome presentation
fever >39
hypotension
diffuse erythematous, macular rash
causes organ dysfunction
395
Toxic shock syndrome organ dysfunction
1. mucositis - conjunctivae, oral mucosa, genital mucosa
2. gastrointestinal - D&V
3. renal impairment
4. liver impairment
5. clotting abnormalities and thrombocytopenia
396
Toxic shock syndrome management
- intensive care support needed to manage shock and areas of infection should be debrided
- abx eg ceftriaxone w/ clindamycin used to stop toxin production
- after 1-2wks, desquemation of palms, soles, fingers and toes
risk of recurrent skin and soft tissue infections
397
What is scarlet fever?
infectious disease caused by toxin producing strains of bacterium Streptococcus pyogenes
highly contagious
transmission through infected saliva or mucus w/ aerosol transmission or direct contact
common 2-8 yrs
398
Scarlet fever risk factors
neonates
immunocompromised
concurrent chickenpox or influenza
399
Scarlet fever presentation
initial sore throat, fever, headache, fatigue and nausea/vomiting
pinpoint, sandpaper like blanching rash initially on trunk, then spreads to rest of body and flexures
strawberry tongue
cervical lymphadenopathy
400
Scarlet fever management
oral abx eg benzylpenicillin x10days
notify public health
401
What is nocturnal enuresis?
bed wetting - common problem of middle childhood
402
Causes of nocturnal enuresis
genetically determined delay in acquiring sphincter competence and emotional stress can cause secondary enuresis
should also consider:
- UTI
- faecal retention severe enough to reduce bladder vol and cause dysfunction
- polyuria from osmotic diuresis
403
Nocturnal enuresis management
explain to child and parent it is common and beyond conscious control
star charts
enuresis alarm
desmopressin - short term relief
404
What is nephrotic syndrome?
Proteinuria w/ 3+/4+ on dipstick or urine protein:creatinine ratio of >200mmg/mol
Hypoalbuminaemia <25g/l
Oedema
405
Causes of nephrotic syndrome
Primary = generally idiopathic
minimal change disease in children
Secondary = systemic diseases eg HSP, SLE
406
Nephrotic syndrome presentation
periorbital oedema, often on awakening
scrotal, vulval, leg and ankle oedema
ascites
SOB - presence of pleural effusions an abdo distension
407
Nephrotic syndrome investigations
urine dip
urine protein:creatinine ratio
urine microscopy
urine culture
bloods - FBC, U+E, albumin, bone profile
408
Nephrotic syndrome management
- corticosteroid therapy - prednisolone 60mg/m2/day single morning dose x28 days
reduce dose to 40 on alternate days given once daily x28days
- diuretics may be needed to control oedema whilst steroids take effect - furosemide 1-2mg/kg/day
- diet w/ reduced salty food
- pneumococcal immunisations (23 valent pneumococcal polysaccharide vaccine)
most children will have remissions and relapses but they will become less frequent and stop once in teenage yrs
409
Steroid-resistant nephrotic syndrome
common in asian boys, complication of nephrotic syndrome
can lead to hypovolaemia, thrombosis, infection and hypercholesterolaemia
may resolve or can cause relapses and progress to renal failure
can try cyclophosphamide, tacrolimus or rituximab
410
What can cause steroid-resistant nephrotic syndrome?
focal segmental glomerulosclerosis
membranous nephropathy
411
what is nephritic syndrome?
inflammation w/in nephrons on kidneys causing:
- reduction in kidney function
- haematuria
- proteinuria
412
Nephritic syndrome causes
post strep glomerulonephritis
- 1-3wks after B-haemolytic streptococcus infection (eg tonsilitis).
-Immune complexes made up of streptococcal antigens, antibodies and complement proteins get lodged in glomeruli and cause inflammation and AKI
IgA nephropathy
- related to HSP, an IgA vasculitis
- IgA deposits in nephrons of kidneys, causing inflammation
413
Nephritic syndrome investigations
urine microscopy
protein and calcium excretion
kidney and urinary tract US
bloods - U+E, FBC, creatinine
414
Nephritic syndrome management
supportive therapy of renal failure
diuretics and antihypertensive medications for HTN and oedema
immunosuppressants eg steroids
415
What is hypospadias?
affects males, urethral meatus (opening of urethra) is abnormally displaced to underside of penis, towards scrotum
congenital, affects babies from birth
usually diagnosed on NIPE
416
Hypospadias management
surgery after 3-4months of age
aims to correct meatus position and straighten penis
417
What is acute kidney injury (AKI)?
acute renal failure w/ oliguria (<0.5ml/kg/hr) usually present
418
AKI causes
Prerenal (most common in children) = hypovolaemia caused by infections eg gastroenteritis, burns, sepsis, haemorrhage and nephrotic syndrome
Renal = HUS, vasculitis, renal vein thrombosis, acute tubular necrosis, glomerulonephritis, pyelonephritis
Post renal = obstructions eg posterior urethral valves, blocker catheters
419
AKI management
1. regular monitoring of circulation and fluid balance
2. US to identify any obstruction of urinary tract
3. treat depending on cause eg fluid replacement, assess site of obstruction, renal biopsy
4. dialysis in severe cases
420
What is haemolytic uraemic syndrome?
triad:
- acute renal failure
- microangiopathic anaemia
- thrombocytopenia
usually occurs 2ndry to GI infection, contact w/ farm animals or eating uncooked beef
421
Haemolytic uraemic syndrome pathophysiology
toxin enters GI mucosa and localises to endothelial cells in kidney, causing activation of clotting cascade and consumption of platelets
anaemia caused by damage to RBC as they circulate
422
Haemolytic uraemic syndrome presentation
reduced urine output
haematuria
abdo pain
lethargy and irritability
confusion
oedema
HTN
423
Haemolytic uraemic syndrome management
early supportive therapy - dialysis
antihypertensives if needed
careful maintenance of fluid balance
blood transfusion if needed
424
What are hypertensives?
treat HTN and prevent complications
Thiazide diuretics
calcium channel blockers
for people who have kidney disease and heart failure ― Angiotensin-Converting Enzyme (ACE) inhibitors and Angiotensin II Receptor Blockers (ARBs)
(beta blockers too)
425
Chronic renal failure value
eGFR < 15ml/min
426
Chronic renal failure causes
structural malformations
glomerulonephritis
hereditary nephropathies
systemic diseases
427
Chronic renal failure presentation
symptoms don't generally develop until renal function is <1/2 normal, often picked up on antenatal US
anorexia and lethargy
polydipsia and polyuria
faltering growth
HTN
acute-on-chronic renal failure precipitated by infection/dehydration
incidental finding of proteinureia
428
Chronic renal failure management
- sufficient feeding w/ good protein intake to maintain growth - supplemented w/ NG/gastrostomy feeding if needed
- phosphate restriction and activated vitD to prevent renal osteodystrophy
- bicarbonate supplements to prevent acidosis
- EPO to prevent anaemia
- growth hormone
dialysis and transplantation if necessary
429
What is leukaemia? What are the types?
cancer of stem cells in bone marrow
Acute Lymphoblastic - most common in children (2-3yrs)
Acute myeloid leukaemia - next most common (<2yrs)
Chronic myelogenous- v.rare
430
Leukaemia risk factors
Down's syndrome
Kleinfelter's syndrome
radiation exposure during pregnancy
Noonan syndrome
431
Leukaemia presentation
persistent fatigue
unexplained fever
faltering growth
weight loss
night sweats
anaemia
petechiae and abnormal bruising
unexplained bleeding
abdo pain
generalised lymphadenopathy
hepatosplenomegaly
432
Leukaemia investigations
NICE recommend any child w/ unexplained petechiae or hepatomegaly require specialist assessment
FBC - anaemia, leukopenia, thrombocytopenia
blood film - blast cells
bone marrow biopsy
433
Leukaemia management
chemotherapy
potential radiotherapy and bone marrow transplant
434
What are the leading cause of childhood cancer deaths in the UK?
brain tumours
almost always primary
435
What are the types of brain tumours?
Astrocytoma - vary from benign to highly malignant
Medulloblastoma - arise in middle of posterior fossa and may seed through CNS via CSF giving spine metastases
Ependymoma - mostly posterior fossa where it behaves like medulloblastoma
Brainstem glioma
Craniopharyngioma - developmental tumour arising from embryological remnant
436
Brain tumour presentation
often related to raised ICP: headache worse on waking, coughing, straining or bending forward along w/ papilloedema
focal neurological signs may be detected
back pain, peripheral weakness of arms/legs or bladder/bowel dysfunction depending on lvl of lesion
437
Brain tumour investigations and managment
I: MRI scan
M: surgery to treat hydrocephalus, chemo and radio depends on tumour type and pt age
438
What is a neuroblastoma?
tumour arising from neural crest in adrenal medulla and sympathetic nervous system
biologically unusual tumour that occurs <5yrs
generally good prognosis >80% cured
439
Neuroblastoma presentation
abdo mass
pallor
weight loss
hepatomegaly
bone pain
limp
cervical lymphadenopathy
periorbital bruising
skin nodules
440
Neuroblastoma investigations
raised urinary catecholamine lvls
biopsy
bone marrow sampling
441
Neuroblastoma management
surgery often curative when there's no metastatic disease
if metastatic, need chemo, surgery and radio
442
What is a Wilms tumour?
originates from embryonal renal tissue
most common renal tumour of childhood
often presents <5yrs
443
Wilms tumour presentation
large abdo mass, often incidentally found in otherwise healthy child
abdo pain
anorexia
haematuria
HTN
444
Wilms tumour investigations and management
I: CT/MRI - show intrinsic renal mass
M: initial chemo followed by delayed nephrectomy
445
What bone tumour is more often seen in younger children?
Ewing's sarcoma
osteogenic sarcoma is however more common
446
Bone tumours presentation
limbs most common site
persistent, localised bone pain
otherwise generally well
447
Bone tumours investigations and management
I: plain x-ray, MRI and bone scan
bone x-ray = destruction and variable periosteal new bone formation
CT to assess for lung metastases
M: combo chemo given before surgery
448
Ewing's sarcoma investigations and managment
I: bone x-ray shows substantial soft tissue mass (onion skin appearance)
M: radiotherapy as well as chemo, especially if surgical resection is impossible
449
What is a retinoblastoma?
malignant tumour of retinal cells, accounts for around 5% of visual impairment in children, can be unilateral or bilateral
bilateral are hereditary
susceptibility = chromosome 13 w/ dominant inheritance
most present <3yrs
450
Retinoblastoma presentation
white pupillary reflex replaces red one
squint
451
Retinoblastoma investigations and management
I: MRI and exam under anaesthetic
M: aim to cure but still preserve vision, treatment based around ophthalmological findings
chemo to shrink tumour, particularly in bilateral disease, followed by local laser treatment
most pts cured but can be visually impaired, risk of 2ndry malignancy
452
What is ADHD?
attention deficit hyperactivity disorder
altered lvls of dopamine in brain, causes structural and functional changes
genetic component
453
ADHD presentation
Inattention:
doesn't want to complete instructions
engage in intense tasks
easily distracted
difficulty organising tasks
forgetful
Hyperactivity / impulsivity:
can't play quietly
talks excessively
doesn't wait their go,
interrupts others
answers questions prematurely
454
ADHD diagnostic criteria
< 16 = at least 6 criteria from either category
> 17 = at least 5 criteria from either category
symptoms must've been present <12 for >6m
symptoms must be present >1 setting
evidence of impairment of child's function but also in line w/ child's developmental lvl
455
ADHD investigations
Conners questionnaire
school observation
home visit and information from other relatives etc
456
ADHD management
Non-medical = care plans from teachers, CBT, behavioural strategies
Medical = methylphenidate, lisdexamfetamine, dexamfetamine
457
Methylphenidate side effects
cardiotoxic - so need baseline ECG before starting
458
What is autism spectrum disorder?
neurodevelpmental disorder impacting social interaction, communication and behaviour
459
Causes of autism spectrum disorder
genetic w/ multi gene involvement
structural changes w/ brain
460
Autism spectrum disorder presentation
Abnormal social interaction
- poor eye contact
- plays alone
- uninterested in social interaction
- difficulty forming close relationships
Impaired social communication
- failure to develop spoken language
- failure to initiate convo
- abnormal rhythm, pitch and tone of speech
Repetitive ideas
- need for routine / rituals
- motor mannerisms: repetitive compulsive movements
- sensory issues - only eat certain foods, don't like loud noises
461
Autism spectrum disorder diagnosis
features from all 3 categories +1 of before aged 3:
- lack of social attachments
- abnormal / delayed expression
- abnormal symbolic play
462
Autism spectrum disorder management
education care plans
applied behaviour analysis
family support / counselling
MDT appeoach
463
What is Klinefelter syndrome?
additional X chromosome for men, making them 47 XXY
464
Klinefelter syndrome presentation
taller height
wide hips
gynaecomastia
weaker muscles
small testicles
reduced libido
shyness
infertility
subtle learning difficulties
465
Klinefelter syndrome investigations and management
I: physical exam, hormone lvls, karyotype analysis
M: testosterone injections, advanced IVF techniques, breast reduction surgery, MDT input
466
Klinefelter syndrome complications
increased risk of
breast cancer
osteoporosis
diabetes
anxiety
467
What is Turner's syndrome?
occurs when female has single X chromosome, making them 45 XO
468
Turner's syndrome presentation
short stature
webbed neck
widely spaced nipples w/ broad chest
high arching palate
downward sloping w/ ptosis
underdeveloped ovaries w/ reduced function
late or incomplete puberty
most women are infertile
469
Turner's syndrome associated conditions
recurrent otitis media
recurrent UTI
hypothyroidism
htn
obesity
diabetes
470
Turner's syndrome management
growth hormone therapy - short stature
oestrogen and progesterone replacement - establish female sex characteristics, regulate menstrual cycle and prevent osteoporosis
regular monitoring needed for associated conditions
471
What is Noonan syndrome?
genetic condition, mainly autosomal dominant, stops typical development in various parts of body
472
Noonan syndrome presentation
short stature
broad forehead
downward sloping eyes w/ ptosis
wide space between eyes
low set ears
webbed neck
widely spaced nipples
473
Noonan syndrome associated conditions
congenital heart disease (eg pulmonary stenosis, hypertrophic cardiomyopathy and ASD)
undescended testes leading to male infertility
learning disability
bleeding disorders
increased risk of leukaemia
474
Noonan syndrome management
supportive management - MDT
often corrective heart surgery required for congenital heart disease
475
What is fragile X syndrome?
caused by mutation in FMR1 gene on X chromosome
codes for fragile X mental retardation, which plays role in cognitive development in brain
476
Fragile X syndrome presentation
delay in speech and language development
intellectual disability
long, narrow face
large ears
large testicles after puberty
hypermobile joints (particularly hands)
ADHD
autism
seizures
477
Fragile X syndrome management
supportive for treating symptoms and complications
478
What is Prader-Willi syndrome?
genetic condition caused by loss of functional genes on proximal arm of chromosome 15
inherited from father
can be due to deletion of this portion or when both copies are inherited from mother
479
Prader-Willi syndrome presentation
constant insatiable hunger that leads to obesity
hypotonia as an infant
learning disability
fairer, softer skin that's prone to bruising
mental health problems eg anxiety
dysmorphic features
narrow forehead
almond shaped eyes
strabismus
thin upper lip
hypogonadism
480
Prader-Willi syndrome management
no cure
dietician management - control weight
growth hormone - improve muscle development and body composition
psychiatry support - mental health problems
481
What is Angelman syndrome?
loss of function of UBE3A gene on copy inherited from mother
caused by deletion on chromosome 15
482
Angelman syndrome presentation
delayed development and learning disability
severe delay or absence of speech development
fascination w/ water
happy demeanour
widely spaced teeth
inappropriate laughter
abnormal sleep patterns
epilepsy
ADHD
dysmorphic features
fair skin, light hair and blue eyes
483
Angelman syndrome
MDT approach to managing individual problems
484
What is William syndrome?
deletion of epigenetic material on one copy of chromosome 7, resulting in just a single copy of genes
usually due to random deletion during conception
485
William syndrome presentation
broad forehead
starburst eyes (star like pattern on iris)
flattened nasal bridge
very sociable, trusting personality
wide mouth w/ widely spaced teeth
small chin
486
William syndrome management
MDT approach to managing individual problems
487
William syndrome complications
supravalvular aortic stenosis
ADHD
HTN
hypercalcaemia
488
What is Edwards syndrome?
trisomy 18
extra copy of chromosome 18
3 forms:
Full - complete extra copy in all cells
Mosaic - complete extra copy in some cells
Partial - part of extra copy
489
Edward's syndrome presentation
low birthweight
small mouth and chin
short sternum
flexed, overlapping fingers
'rocker-bottom feet'
cardiac and renal malformations
490
What is Patau syndrome?
trisomy 13
some or all cells contain extra genetic material from chromosome 13
491
Patau syndrome presentation
structural defects of brain
scalp defects
small eyes and other eye defects
cleft lip and palate
polydactyly
cardiac and renal malformations
492
What is Duchenne muscular dystrophy?
1/4000 male infants
inherited X linked recessive disorder
results from deletion on short arm of X chromosome
493
Duchenne muscular dystrophy pathophysiology
site codes for dystrophin - protein that connects cytoskeleton of muscle fibres to extracellular matrix through cell membrane
deficiency results in myofiber necrosis and raised serum CPK
494
Duchenne muscular dystrophy presentation
Gower's sign - need to turn prone to rise up from floor
pseudohypertrophy of calves as muscular tissue is replaced by fat / fibrous tissue
boys will be slower and clumsier than their peers
no longer able to walk by 10-14yrs due to progressive muscular atrophy
495
Duchenne muscular dystrophy management
exercises to help maintain power and mobility
night splints and passive stretching
good sitting posture to help reduce scoliosis likelihood
corticosteroids can be given to help preserve mobility and prevent scoliosis
496
What is Becker muscular dystrophy?
some functional dystrophin is produced
therefore features are similar to DMD but disease progresses more slowly
age on onset being later
497
What is osteogenesis imperfecta?
autosomal dominant genetic condition that results in brittle bones that are susceptible to fractures
genetic mutation that affects formation of collagen, which is needed to maintain structure and function of bone, skin, tendons and other connective tissues
498
Osteogenesis imperfecta presentation
recurrent and inappropriate fractures
blue / grey sclera
hypermobility
triangular face
deafness from early adulthood
dental problems
bone problems
499
Osteogenesis imperfecta investigations
mainly clinical diagnosis
x-ray - diagnose fractures and deformities
genetic testing rarely done
500
Osteogenesis imperfecta management
bisphosphonates - increase bone density
VitD supplementation
physio and OT - maximise strength and function
management of fractures
501
What is rickets?
defective bone mineralisation causing 'soft' and deformed bones
502
Rickets causes
VitD deficiency - produced by body in response to sunlight or through food eg eggs, oily fish
Calcium deficiency - dairy products and some green vef
Hereditary hypophosphatemic rickets - X-linked dominant condition
503
Rickets pathophysiology
Inadequate vitamin D = lack of calcium and phosphate which are needed for bone formation = defective bone mineralisation
Low calcium = 2ndry hyperparathyroidism as parathyroid gland tries to raise calcium lvls by secreting PTH = stimulates increased reabsorption of calcium = further bone mineralisation problems
504
People more likely to have vitamin D deficiency
people w/ malabsorption disorders
ppl w/ CKD
505
What is the role of vitamin D?
hormone created from cholesterol by skin in response to UV
Essential in calcium and phosphate absorption from intestines and kidneys, as well as regulating bone turnover and promoting bone reabsorption
506
Rickets risk factors
darker skin
low exposure to sunlight
colder climates
spending majority of time indoors
507
Rickets presentation
lethargy
bone pain
poor growth
dental problems
muscle weakness
508
What are the bone deformities seen in rickets?
Bowing of legs - legs curve outwards
Knock knees - legs curve inwards
Rachitic rosary - ends of ribs expand at costochondral junctions causing lumps along chest
Craniotabes - soft skull w/ delayed closure of sutures and frontal bossing
Delayed teeth
509
Rickets investigations
serum 25-hydroxyvitamin D - <25nmol/L establishes deficiency
X-rays
serum calcium and phosphate may be low
serum ALP and PTH may be high
FBC - rule out other pathology including FBC, ESR, CRP, LFTs, TFTs, malabsorption screen
510
Rickets management
prevention is best - 400 IU supplements for children and young people
children w/ deficiency = ergocalciferol (vitD)
for those diagnosed, vitD and calcium supplementation needed
511
What is transient synovitis?
irritable hip - most common cause of hip pain in children 3-10
Temporary irritation and inflammation in synovial membrane - often associated w// viral UTI
511
Transient synovitis presentation
symptoms usually occur w/in a few wks of viral illness
limp
refusal to weight bear
groin or hip pain
mild grade low temp
otherwise well - no systemic signs
512
Transient synovitis management
symptomatic management
exclude other diagnoses - particularly septic arthritis
generally good prognosis - recovery w/in 1-2wks w/out long term effects
513
What is septic arthritis?
infection inside joint - most common in children <4yrs
514
Septic arthritis causes
staphylococcus aureus
neisseria gonorrhoea in sexually active teens
grp A strep - strep pyogenes
haemophilius influenzae
E coli
515
Septic arthritis presentation
only affects single joint - knee or hip
hot, red, swollen and painful joint
refusal to weight bear
stiffness and reduced ROM
fever, lethargy and sepsis
516
Septic arthritis management
- admission to hospital w/ involvement of orthopaedic team
- joint aspiration prior to abx - gram staining, crystal microscopy, culture and abx sensitivities
- empirical IV abx, followed by specific abx once sensitivities received
- surgical drainage and washout may be needed
517
What is osteomyelitis?
infection of bone and bone marrow - typically in metaphysis of long bones
infection can be introduced directly into bone (eg open fracture) or travelled to bone from blood after entering through another medium
518
Osteomyelitis risk factors
male <10
open bone fractures
orthopaedic surgery
immunocompromised
sickle cell anaemia
HIV
TB
519
What is chronic osteomyelitis?
deep seated, slow growing infection w/ slowly developing symptoms
520
Osteomyelitis presentation
systemic symptoms eg fever
refusing to use limb or weight bear
pain
swelling
tenderness
521
Osteomyelitis investigations
x-rays (1st)
MRI (GS)
bloods - CRP, ESR, white cells
blood cultures
bone marrow aspiration
522
Osteomyelitis management
extensive and prolonged abx therapy
surgery may be needed for drainage and debridement of infected bone
523
What is Perthes disease?
disruption of blood flow to femoral head, causing avascular necrosis of bone - affecting epiphysis of femur
most common between 5-8yrs boys but can affect all from 4-12yrs
mainly idiopathic
over time, there's revascularisation or neovascularisation and healing of femoral head w/ remodelling of bone as it heals
524
Perthes disease presentation
slow onset of pain in hip or groin
limp
restricted hip movements
referred pain to knee
no history of trauma
525
Perthes disease investigations
x-ray - can be normal
bloods - CRP, ESR (can be normal)
technetium bone scan
MRI
526
Perthes disease management
- initial = conservative to maintain healthy position and alignment in joint and reduce risk of damage or deformity to femoral head (bed rest, traction, analgesia and crutches)
- physio - retain muscle and joint movement
- regular x-rays
- surgery in severe cases, older children or those not healing
527
What is slipped femoral epiphysis?
head of femur displaced along growth plate
more common in males and typically between 8-15yrs
more common in obese children
528
Slipped femoral epiphysis presentation
adolescent, obese male undergoing growth spurt
hx of minor trauma which may trigger onset of symptoms
hip, groin, thigh or knee pain
restricted hip ROM
painful limp
wanting to keep hip in external rotation w/ restricted internal rotation
529
Slipped femoral epiphysis investigations
x-ray
bloods - normal but use inflam markers to exclude other causes
CT / MRI
530
Slipped femoral epiphysis management
surgery - return femoral head to correct position and fix it in place
531
What is Osgood-Schlatter disease?
caused by inflammation at tibial tuberosity where patellar ligament inserts - common cause of anterior knee pain in adolescents
typically males 10 - 15yrs
normally unilateral but can be bi
532
Osgood-Schlatter disease pathophysiology
Patella tendon inserts into tibial tuberosity - epiphyseal plate
Stress from running, jumping and movements at same time as growth in plate results in inflammation on tibial epiphyseal plate
Small avulsion fractures where patellar ligament pulls away tiny pieces of bone, leads to growth of tibial tuberosity, causing visible lump below knee
Initially, bump is tender due to inflammation but as bone heals and inflammation settles, becomes hard and non-tender
533
Osgood-Schlatter disease presentation
gradual onset
visible or palpable hard and tender lump at tibial tuberosity
pain in anterior aspect of knee
pain exacerbated by physical activity, kneeling and on extension of knee
534
Osgood-Schlatter disease management
reduce physical activity
ice
NSAIDs - symptomatic relief
stretching and physio once symptoms settle
will generally resolve over time, but pt usually left w/ hard, boney lump on knee
535
What is developmental dysplasia of hip?
structural abnormality caused by abnormal development of foetal bones during pregnancy, leading to instability in hips and tendency for dislocation
- usually found in NIPE or later when child presents w/ hip asymmetry, reduced ROM in hip or limp
536
Developmental dysplasia of hip risk factors
1st degree FH
breech presentation >36wks
breech presentation at birth if >28wks
multiple pregnancy
537
Developmental dysplasia of hip screening
NIPE, may see:
- different leg lengths
- restricted hip abduction on one side
- significant bilateral restriction in abduction
difference in knee lvl when hips are flexed
clunking of hips on special tests (Ortolani and Barlow)
538
Developmental dysplasia of hip investigations
if suspected, US
x-rays can be helpful in older infants
539
Developmental dysplasia of hip management
Pavlik harness - baby <6m, fitted and kept on permanently and adjusts for baby growth
aim= hold femoral head in correct position to allow hip socket to develop normal shape and keeps hip's flexed and abducted
r/w after 6-8wks
surgery may be needed when harness fails or if diagnosis is made after 6m
540
540
What is juvenile idiopathic arthritis?
autoimmune inflammation which occurs in joints
diagnosed when there's arthritis w/out cause, lasting >6wks in pt <16yrs
joint pain, swelling and stiffness
541
Systemic juvenile idiopathic arthritis presentation
subtle salmon-pink rash
high swinging fever
enlarged lymph nodes
weight loss
joint pain and inflammation
splenomegaly
muscle pain
542
Systemic juvenile idiopathic arthritis investigations
ANA and RF -ve
raised CRP, ESR, platelets and serum ferritin
543
What is polyarticular juvenile idiopathic arthritis?
- idiopathic inflammatory arthritis in >5 joints
- tends to be symmetrical
- can affect small or large joints
- minimal systemic symptoms (can have mild fever, anaemia and reduced growth)
- most will be RF -ve but in older children and adolescents, can be RF +ve
544
What is oligoarticular juvenile idiopathic arthritis?
- <4 joints, often only single joint
- more common in girls <6
- affects larger joints
- anterior uveitis - refer to ophthalmology
- no systemic symptoms, inflamm may be normal or slightly elevated, ANA +ve but RF usually -ve
545
What is enthesitis-related arthritis?
- more common in males > 6
- paed version of seronegative spondyloarthropathies (ankylosing spondylitis)
- enthesitis = inflammation at point where muscle inserts into bone - can be caused by traumatic stress or autoimmune process
- HLA-B27 gene
- signs and symptoms of psoriasis and IBD
- prone to anterior uveitis
546
What is juvenile psoriatic arthritis?
- seronegative inflammatory arthritis associated w/ psoriasis
- can be symmetrical polyarthritis affecting small joints or an asymmetrical arthritis affecting large joints in lower limbs
- may have nail pitting, dactylitis, enthesitis, plaques of psoriasis on skin
547
Juvenile idiopathic arthritis management
NSAIDs - ibuprofen
steroids - oral, IM or intra-articular in oligoarthritis
DMARDs - methotrexate
biologicals eg TNF inhibitors eg infliximab / adalimumab
548
What is hypoxic-ischaemic encephalopathy?
brain injury due to inadequate cerebral oxygen supply
commonly associated w/ perinatal asphyxia in neonates, can also occur in adults due to cardiac arrest or severe systemic hypoxia
549
Hypoxic-ischaemic encephalopathy pathophysiology
Primary energy failure = occurs immediately during hypoxic-ischaemic event, leads to anaerobic metabolism, lactic acidosis, and cytotoxic oedema. After initial resuscitation and reoxygenation, period of latenet phase occurs where brain appears to recover
Secondary energy failure = occurs hrs - days later, characterised by renewed accumulation of toxic metabolites and free radicals causing further neuronal death
550
Hypoxic-ischaemic encaphalopathy presentation
altered consciousness lvls ranging from lethargy to coma, seizures, abnormal tone and reflexes
551
Hypoxic-ischaemic encephalopathy investigations
clinical criteria
blood gas
cranial US
FBC, electrolytes and glucose, LFTs
MRI brain
EEG
metabolic screen
552
Hypoxic-ischaemic encephalopathy management
supportive - maintain normal body temp and blood glucose, seizure control
therapeutic hypothermia has shown benefits in neonatal HIE if initiated w/in 6hrs of birth
553
Hypoxic-ischaemic encephalopathy complications
cerebral palsy
seizure disorders
cognitive impairment
motor deficits
sensory impairments
microcephaly
poor growth
behavioural disorders
554
What is meconium aspiration syndrome?
newborn inhales mixture of meconium and amniotic fluid during birth
leads to airway obstruction, inflammation, infection and resp distress due to chemical pneumonitis
555
Meconium aspiration syndrome presentation
signs of resp distress shortly after birth - grunting, nasal flaring, intercostal retractions
cyanosis
tachypnoea
decreased breath sounds
556
Meconium aspirations syndrome investigations
clinical presentation
CXR - patchy infiltrates or atelectasis
ABG
pulse oximetry
557
Meconium aspiration syndrome management
initial stabilisation - oxygenation, ventilation support and abx if infection suspected
consider surfactant therapy in extreme cases
manage persistent pulmonary HTN w/ inhaled nitric oxide or extracorporeal membrane oxygenation
558
What is congenital adrenal hyperplasia?
autosomal recessive disorder
impaired cortisol production due to enzymatic defects in adrenal steroidogenesis pathway
results in compensatory increase in adrenocorticotropic hormone (ACTH) secretion, leading to adrenal hyperplasia and overproduction of adrenal androgens
559
Congenital adrenal hyperplasia cause
genetic mutation affecting enzymes involved in steroidogenesis w/in adrenal cortex
autosomal recessive
most common = CYP21A2 gene, results in 21-hydroxylase deficiency
560
Congenital adrenal hyperplasia pathophysiology
1. CYP21A2 mutations impair 21-hydroxylase function
2. Reduced cortisol production increases ACTH secretion
3. Adrenal hyperplasia results from chronic ACTH stimulation
4. Steroid precursors accumulate due to enzymatic blockages
5. Excess androgen synthesis causes virilisation
6. Aldosterone deficiency leads to electrolyte imbalances
7. Persistent hormonal disturbances affect growth and devleopment
561
Congenital adrenal hyperplasia presentation
virilisation (ambigious genitalia at birth in females, males may show signs of precocious puberty)
salt-wasting symptoms - hyponatraemia, hyperkalaemia, dehydration, htn
non-classic presentation = hirsutism, menstrual irregularities, infertility
562
Congenital adrenal hyperplasia diagnosis
elevated serum 17-hydroxyprogesterone lvls genetic testing - CYP21A2 gene mutations
clinical presentation
563
Congenital adrenal hyperplasia differentials
androgen insensitivity syndrome
Turner syndrome
pituitary oedema
564
Congenital adrenal hyperplasia management
glucocorticoid replacement - suppress ACTH secretion and control symptoms
surgical correction for females w/ ambigious genitalia
565
Congenital adrenal hyperplasia complications
adrenal insufficiency
electrolyte imbalances
virilisation
fertility issues
poor growth and stature
psychosocial issues
HTN
bone density reduction
566
What is delayed puberty?
absence of physical or hormonal signs of pubertal development at age beyond usual
Boys = no testicular enlargement by 14
Girls = lack of breast development by 13
567
Delayed puberty causes
constitutional delay
hypogonadotrophic hypogonadism
568
Delayed puberty investigations
history and physical exam
bone age assessment
serum gonadotrophins
sex steroid lvls
thyroid function
karyotype analysis (Turners)
569
Delayed puberty management
determine underlying cause and treat
short-term or long-term sex steroid treatment may be required
refer to specialist
570
Delayed puberty complications
psychological distress
growth abnormalities
bone health issues eg osteoporosis
fertility issues
570
What is precocious puberty?
onset of secondary sexual characteristics before 8yrs (girls) and 9yrs (boys)
571
What are the two types of precocious puberty?
- Central precocious puberty (CPP) = premature activation of hypothalamic-pituitary-gonadal axis
- Peripheral precocious puberty = excessive sex steroids independent of gonadotrophin secretion
572
Precocious puberty causes
idiopathic
CNS abnormalities
endo disorders
genetic mutations
573
Precocious puberty presentation
varies between genders
rapid growth
advanced bone age
acne
behavioural changes
574
Precocious puberty investigations and management
I = hx, physical exam, hormonal lvls, imaging
M = GnRH analogues, targeted therapy depending on cause. Focuses on halting progression and minimising pyschosocial implications
575
What is immune thrombocytopenia?
acquired autoimmune condition
abnormally low lvls of platelets in blood, typically manifesting as widespread petechial rash
good prognosis
576
Immune thrombocytopenia pathophysiology
exact is unknown, but most cases arise after a preceding viral illness
antibodies directed against viral antigens during viral illness may cross-react w/ normal platelet antigens via molecular mimicry
Auto-antibody production thought to be caused by dysregulated CD4+ helper T cells reacting to platelet surface glycoproteins
577
Immune thrombocytopenia presentation
otherwise well child w/ petechial rash alone
hx of recent viral illness, tends to be viral upper resp tract infection, can be GI too
May get nose bleeds, oral bleeds
578
Immune thrombocytopenia investigations
diagnosis of exclusion
FBC - platelets, WBC, haemoglobin
peripheral blood smear
bone marrow biopsy if blood film abnormal
579
Immune thrombocytopenia differentials
Henoch Schonlein purpura
haematological malignancy
meningococcal disease
congenital thrombocytopenic syndromes
disseminated intravascular coagulation
580
Immune thrombocytopenia vs Henoch Schonlein purpura
Same: both petechiae, both more common in children, both have viral prodrome, both otherwise healthy child
Different: HSP tends to be palpable purpura, arthritis / arthralgia present, rash tends to be lower limbs and buttock
581
Immune thrombocytopenia management (children only)
platelet count:
<20 - 30,000/microL = active treatment threshold
<10,000/microL = severe, active management undertaken
Conservative = will resolve spontaneously w/in 3wks in 30-70% cases
Active management = corticosteroids (prednisolone), IVIg and anti-D immunoglobulin
Platelet transfusions + corticosteroids + IVIg in severe cases
582
Immune thrombocytopenia complicaions
severe bleeding
intracranial haemorrhage
chronic ITP
583
Appendicitis pathophysiology
Appendix = small, thin tube arising from caecum, located at point where 3 taeniae coli meet. Single opening to appendix that connects it to bowel, and it leads to a dead end
Pathogens get trapped due to obstruction at point where appendix meets bowel. Trapped pathogens lead to infection and inflammation, may proceed to gangrene and rupture
When appendix ruptures, faecal contents and infective material released into peritoneal cavity, leading to peritonitis
584
Appendicitis presentation
typically starts as central abdo pain that moves to RIF w/in first 24hrs
tenderness at McBurney's point
anorexia
N&V
low-grade fever
Rovsing's sign
guarding
rebound tenderness
percussion tenderness
584
What are rebound tenderness and percussion tenderness a sign of?
peritonitis
possibly a ruptured appendix due to appendicitis
585
Appendicitis diagnosis
clinial
scoring system - Alvarado score and paediatric appendicitis score
bloods - raised WCC and CRP
US - confirm and exclude other pathology
586
Appendicitis differentials
ectopic pregnancy
ovarian cysts
Meckel's diverticulum
mesenteric adenitis
587
Appendicitis management
emergency admission
Appendicectomy - laparoscopic surgery
588
Appendicectomy complications
bleeding, infection, pain and scars
damage to bowel, bladder or other organs
removal of normal appendix
anaesthetic risks
venous thromboembolism
589
What is an inguinal hernia?
bowel herniates through inguinal canal
more common in preterm infants and males
usually diagnosed in first yr of life
590
Inguinal hernia pathophysiology
Inguinal canal runs between deep inguinal ring and superficial inguinal ring
Normally deep inguinal ring closes after testes descend through inguinal canal, and processus vaginalis gets obliterated
But in some, deep inguinal ring remains patent and processus vaginalis remains intact
Leaves tract from abdo contents through inguinal canal into scrotum. Bowel can herniate along this, causing indirect inguinal hernia
591
What is the processus vaginalis?
pouch of peritoneum that extends from abdo cavity through inguinal canal and into scrotum
testes descend through processus vaginalis
gets obliterated during development, but can remain patent and cause hernias
592
Inguinal hernia presentation
soft lump in groin or scrotum
may be more noticeable when infant is crying or upright
otherwise symptomatic unless complications occur
contents of hernia should be reducible back through canal by applying gentle pressure to lump
593
Inguinal hernia management
surgical repair asap to reduce complications risk
594
Inguinal hernia complications
incarceration (hernia not reducible)
bowel obstruction
strangulation
recurrence after surgery
595
What is inflammatory bowel disease?
recurrent episodes of inflammation in GI tract
UC and Crohn's
associated w/ periods of exacerbation and remission
thought to be caused by combo of factors of genetics, environment and gut microbiome
presents in older children and adolescents, most often in 18-30
596
Features of inflammatory bowel disease
diarrhoea
abdo pain
rectal bleeding
fatigue
weight loss
anaemia
- may be systemically unwell during flares (fever, malaise, dehydration)
597
Crohn's vs Ulcerative colitis - Crohns
Crohn's = NESTS
No blood or mucus
Entire GI tract
Skip lesions
Terminal ileum / Transmural inflammation
Smoking RF
Crohn's associated w/ strictures and fistulas
598
Crohn's vs Ulcerative colitis - UC
UC = CLOSEUP
Continuous inflammation
Limited to colon and rectum
Only superficial mucosa affected
Smoking may be protective
Excrete blood and mucus
Use aminosalicylates
Primary sclerosing cholangitis
599
Conditions associated w/ inflammatory bowel disease
- erythema nodosum (red nodules on shine caused by sc fat inflammation)
- pyoderma gangrenosum (painful enlarging skin ulcers)
- enteropathic arthritis
- primary sclerosing cholangitis
- red eye conditions
600
Inflammatory bowel disease investigations
bloods - FBC, CRP, LFTs, U&Es
stool microscopy and culture
faecal calprotectin
colonoscopy w/ biopsies
upper GI endoscopy
imaging - US or MRI (for complications)
601
Mild - moderate ulcerative colitis management
aminosalicylates (mesalazine)
corticosteroids (prednisolone)
602
Severe ulcerative colitis management
intravenous steroids (IV hydrocortisone)
IV ciclosporin
infliximab
surgery
603
Maintaining remission in ulcerative colitis
aminosalicylates (mesalazine)
azathioprine
mercaptopurine
surgery - panproctocolectomy, pt left w/ permanent ilseostomy or J-pouch
604
Inducing remission in Crohn's
steroids (oral pred or IV hydrocortisone)
enteral nutrition (formulated liquid diet or NG feeds)
605
Alternatives to steroids to induce remission in Crohn's
azathioprine
mercaptopurine
methotrexate
infliximab
adalimumab
606
Maintaining remission in Crohn's
azathioprine
mercaptopurine
methotrexate
Surgery - resect distal ileum, treat strictures and fistulas
607
What grps are screened for coeliac disease?
children w/ T1 diabetes and autoimmune thyroid disease
608
What is coeliac disease?
autoimmune condition triggered by eating gluten
caused by genetic and environmental factors
609
What human leukocyte antigen genotypes are coeliac disease associated with?
HLA-DQ2
HLA-DQ8
610
Coeliac disease pathophysiology
autoantibodies created in response to gluten that target epithelial cells of small intestine, leads to inflammation which affects small bowel, jejunum particularly
causes atrophy of intestinal villi, results in malabsorption
611
What antibodies are related to coeliacs?
anti-tissue transglutaminase (anti-TTG)
anti-endomysial (anti-EMA)
anti-deamidated gliadin peptide (anti-DGP)
612
Coeliac disease presentation
often asymptomatic and under diagnosed
failure to thrive
diarrhoea
bloating
fatigue
weight loss
mouth ulcers
dermatitis herpetiformis
anaemia
613
Coeliac disease diagnosis
pt continues to eat gluten
ttl IgA lvls (exclude IgA deficiency)
anti-TTG
+ve antibody test = refer for endoscopy and jejunal biopsy - (find crypt hyperplasia and vilous atrophy)
614
Coeliac disease management
lifelong gluten free diet
615
Coeliac disease complications
nutritional deficiencies
anaemia
osteoporosis
hyposplenism
ulcerative jejunitis
enteropathy-associated T cell lymphoma
non-Hodgkin lymphoma
small bowel adenocarcinoma
616
What is pyelonephritis?
inflammation of kidneys resulting from bacterial infection
affects renal pelvis and parenchyma
617
Pyelonephritis risk factors
female
structural urological abnormalities
vesico-ureteric reflex
diabetes
618
Pyelonephritis causes
E.coli - most common
klebsiella pneumoniae
enterococcus
pseudomonas aeruginosa
staphylococcus saprophyticus
candida albicans
619
What type of bacteria os Escherichia coli?
gram-negative
anaerobic
rod-shaped
620
What type of bacteria is klebsiella pneumoniae?
gram-negative anaerobic rod
621
Pyelonephritis presentation
fever
loin or back pain
nausea / vomiting
systemic illness
loss of apetite
haematuria
renal angle tenderness on exam
622
Pyelonephritis investigations
urine dipstick - infection, nitrites, leukocytes and blood
midstream urine - microscopy, culture and sensitivity
bloods - WBCs and CRP
US / CT - rule out stones / abscesses
623
Pyelonephritis management
abx 7-10days
cefalexin
co-amox
trimethoprim
ciprofloxacin
624
What is chronic pyelonephritis?
recurrent episodes of kidney infection
leads to scarring of renal parenchyma, leads to CKD, progress to end-stage renal failure
Use DMSA scans to assess renal damage
624
What is phimosis?
inability to retract skin covering head of penis
may appear as tight ring or 'rubber band' of foreskin around penis tip, preventing full retraction
624
Phimosis symptoms
discoloration
swelling
soreness
dysuria
weak stream
haematuria
smegma
pain in intercourse or when having an erection
625
Phimosis causes
idiopathic
infection
scarring
STIs
skin conditions
injuries
626
Phimosis complications
foreskin and glans inflammation,
UTIs
foreskin tears
poor hygiene
foreskin gets trapped behind glans
627
Phimosis surgery
corticosteroid cream or gel
stretching foreskin
abx for infection
surgery - circumcision
628
What is vesico-ureteric reflux?
urine refluxing from bladder to ureters - usually in children
629
What is allergic rhinitis?
IgE-mediated type 1 hypersensitivity reaction
environmental allergens cause response in nasal mucosa
Can be:
- seasonal (hayfever)
- perennial (year round eg dust mite allergy)
- occupational
630
Allergic rhinitis presentation
runny, blocked and itchy nose
sneezing
itchy, red and swollen eyes
631
Allergic rhinitis triggers
tree pollen or grass
house dust mites
pets
mould
other allergens
632
Allergic rhinitis management
avoid trigger - clean, good ventilation
oral / nasal histamines (non-sedating or sedating)
nasal corticosteroid sprays eg fluticasone and mometasone
633
Histamines examples
Non-sedating = cetirizine, loratadine and fexofenadine
Sedating = chlorphenamine and promethazine
634
What is whooping cough?
resp tract infection caused by bordella pertussis, a gram-ve bacteria
causes coughing fits so severe child cannot inhale between coughs, results in sound
634
How long is bordella pertussis infectious for?
first 3 wks of illness
children and pregnant women vaccinated against. Mother vaccinated in pregnancy and antibodies cross placenta
635
Whooping cough presentation
incubation period = 1wk
coryzal symptoms =1wk
severe paroxysmal cough = 1-10wks
recovery = >2-3wks
loud high pitched whoop can be heard when pt breathes in as they run out of breath
636
Whooping cough diagnosis
nasopharyngeal or nasal swab w/ PCR test or bacterial culture
test for anti-pertussis toxin immunoglobulin G if cough >2wks and not vaccinated in past yr
637
Whooping cough management
notifiable disease
vulnerable pts may need admission
abx - macrolides, co-trimoxazole
Stay off school until either:
- 48hrs of abs
- 14 days from onset of cough
prophylactic abx for close contacts in priority grps
638
What are considered priority grps?
unvaccinated infants
pregnant women >32 wks
ppl who have close contact w/ infants or pregnant women
639
Macrolides examples
azithromycin
erythromycin
clarithromycin
640
What is poliomyelitis?
virus that mainly affects nerves in spinal cord or brain stem
most severe form can lead to paralysis, trouble breathing and death
Mainly effects <5yrs
Worldwide vaccination effort, so few cases occur
641
What is hand, foot and mouth disease?
Coxsackie A virus
incubation 3-5 days
642
Coxsackie disease presentation
typical viral upper resp symptoms - tiredness, sore throat, dry cough, temp
small ulcers appear after 1-2days, followed by blistering red itchy spots across body, specifically hands, foot and mouth
painful mouth ulcers
643
Coxsackie disease diagnosis and management
D: clinical appearance of rash
M: supportive - fluids and analgesia
highly contagious
644
Coxsackie disease complications
rarely:
dehydration
bacterial superinfection
encephalitis
645
What is roseola infantum?
sixth disease, human herpesvirus 6 (HHV-6) or rarely HHV-7
presents 1-2wks after infection w/ sudden high fever, lasts 3-5 days and then disappears
coryzal symptoms
once fever settles, rash appears for 1-2 days
full recovery in a wk
main complication = febrile convulsions
646
What type of rash does roseola infantum cause?
mild erythematous macular rash across arms, legs, trunk and face
647
What is molluscum contagiosum?
viral skin infection caused by molluscum contagiosum virus - type of poxvirus
small, flesh coloured papules that have central dimple
typically appear in 'crops' of multiple lesions in local area
spread through direct contact or sharing items
resolve w/out treatment but can take up to 18m
If in immunocompromised or in problematic areas, can refer to specialist.
648
Global developmental delay causes
Down's syndrome
Fragile X syndrome
fetal alcohol syndrome
Rett syndrome
metabolic disorders
649
Gross motor delay causes
cerebral palsy
ataxia
myopathy
spina bifida
visual impairment
650
Fine motor delay causes
dyspraxia
cerebral palsy
muscular dystrophy
visual impairment
congenital ataxia
651
Language delay causes
specific social circumstances
hearing impairment
learning disability
neglect
autism
cerebral palsy
652
Personal and social delay causes
emotional and social neglect
parenting issues
autism
653
What are the main types of eating disorders?
anorexia nervosa
bulimia nervosa
binge eating disorder
654
Features of anorexia nervosa
weight loss
amenorrhoea
lanugo hair
htn
hypothermia
mood changes
655
Features of bulimia nervosa
erosion of teeth
swollen salivary glands
mouth ulcers
GORD
calluses on knuckles (Russell's sign, where they've been scraped across teeth)
655
Typical presentation of bulimia
teen girl w/ average body weight
swelling to face or under jaw (salivary glands)
calluses on knuckles
alkalosis on blood gas
pc: abdo pain or reflux
655
Binge eating features
planned binge involving 'binge' foods
eating very quickly
unrelated to feelings of hunger
becoming uncomfortably full
eating in dazed state
656
Possible blood test findings in restrictive eating disorders
anaemia (low haem)
leucopenia (low wcc)
thrombocytopenia (low platelets)
hypokalaemia (low potassium)
657
Refeeding syndrome overall effects
hypomagnesaemia
hypokalaemia
hypophosphataemia
fluid overload
658
Undescended testes pathophysiology
testes develop in abdomen and gradually migrate down through inguinal canal into scrotum before birth
however in 5% boys one or both testes have not descended
may be palpable in inguinal region
will descend in most cases by 6m
659
Prolonged undescended testes increase risk of...
testicular torsion
infertility
testicular cancer
659
Undescended testes risk factors
FH of undescended testes
low birth weight
small for gestational age
prematurity
maternal smoking during pregnancy
660
Undescended testes management
bilateral impalpable testes - snr r/w
for newborns, repeated assessments at 6-8wks and 4-5m
Orhidopexy performed at 6-12m
661
What is a retractile testicle?
normally sited in scrotum but moves up and into inguinal canal when cremasteric reflex is activated
considered normal variant and usually resolves w/ puberty
rarely, may fully retract or fail to descend and requires surgical correction (orchidopexy)
662
What is testicular torsion?
twisting of spermatic cord w/ rotation of testicle
urological emergency, delay in treatment increases risk of ischaemia and necrosis , leading to infertility
typically teen boy but can occur at any age
663
Testicular torsion examination findings
firm swollen testicle
elevated (retracted) testicle
absent cremasteric reflex
abnormal testicular lie
rotation
664
What is bell-clapper deformity?
cause of testicular torsion
fixation between testicle and tunica vaginalis is absent, so testicle hangs in horizontal position instead or more verticle
able to rotate w/in tunica vaginalis, twisting spermatic cord, twisting vessels and cutting off blood supply
665
Testicular torsion management
nbm
analgesia
urgent snr assessment
surgical exploration of scrotum
ochiopexy
orchidectomy
666
Testicular torsion diagnosis
scrotal US
whirlpool sign - spiral appearance to spermatic cord and blood vessels
667
Whats is hypothyroidism?
insufficient triiodothyronine (T3) and thyroxine (T4)
can be congenital or acquired in children
668
Causes of congenital hypothyroidism
thyroid dysgenesis (underdeveloped gland)
dyshormonogenesis (gland doesn't produce enough)
pituitary or hypothalamus pathologhy
screened for on newborn blood spot screening test
669
Congenital hypothyroidism symptoms
prolonged neonatal jaundice
poor feeding
constipation
reduced activity
slow growth
delayed develpment
670
Acquiredhypothyroidism causes
Hashimoto's thyroiditis
671
Hashimoto's thyroiditis antibodies
anti-thyroid peroxidase (anti-TPO)
anti-thyroglobulin (anti-Tg)
associated w/ other autoimmune conditions eg T1DM and coeliac
672
Acquired hypothyroidism blood tests show...
low T3 and T4
raised TSH (lack of -ve feedback on pituitary gland)
673
Acquired hypothyroidism symptoms
fatigue and low energy
poor growth
weight gain
poor school performance
constipation
dry skin and hair loss
674
Hypothyroidism investigations and management
I: TFTs, thyroid US and thyroid antibodies
M: levothyroxine orally x1 a day
675
What is Kallman syndrome?
genetic condition causing hypogonadotropic hypogonadism, resulting in failure to start puberty
associated w/ reduced or absent sense of smell (anosmia)
676
Hypothalamic-pituitary-gonadal axis
hypothalamus releases GnRH, which stimulates ant pituitary to produce LH and FSH
Oestrogen has suppressing effect, causing -ve feedback, except just before ovulation, when it has stimulating effect and causes LH surge
677
What does LH stimulate?
theca cells to produce androgens eg testosterone
androgens diffuse into granulosa cells in follicles
678
What does FSH stimulate?
granulosa cells to produce aromatase, an enzyme that converts androgens to oestrogen
679
What is inhibin?
secreted by granulosa cells of ovaries, provides additional -ve feedback to pituitary
FSH stimulates secretion of inhibin, inhibin has suppressing effect on ant pituitary, reducing FSH secretion
680
Causes of gonadotrophin deficiency
hypothalamic disorders
pituitary disorders
Kallman syndrome
681
Gonadotrophin deficiency treatment
hormone replacement therapy (testosterone, oestrogen)
infertility treatment
pulsatile GnRH therapy
682
What is androgen insensitivity syndrome?
cells unable to respond to androgen hormones due to lack of androgen receptors
X-linked recessive condition, mutation in androgen receptor gene
extra androgens converted into oestrogen, resulting in female 2ndry sexual characteristics
pts genetically male but female phenotype externally
683
Features of androgen insensitivity syndrome?
pts have testes in abdomen or inguinal canal, absence of uterus, upper vagina, cervix, fallopian tubes and ovaries
female internal organs don't develop due to testes producing Anti-Mullerian hormone
684
Androgen insensitivity syndrome presentation
lack of pubic hair, facial hair
lack of male type muscle develpoment
pts tend to be slightly taller than female average
infertility, increased risk of testicular cancer
often presents in infancy w/ inguinal hernias containing testes, or at puberty w/ primary amenorrhoea
685
Androgen insensitivity syndrome hormone tests
raised LH
normal or raised FSH
normal or raised testosterone in males
raised oestrogen lvls in males
686
Androgen insensitivity management
bilateral orchidectomy - avoid tumours
oestrogen therapy
vaginal dilators or vaginal surgery
generally pts raised female, but tailored to individual
687
What is thalassaemia?
genetic defect in protein chains that make up haemoglobin
autosomal recessive
RBCs more fragile and break down more easily
688
Thalasseamia symptoms
microcytic anaemia (low MCV)
fatigue
pallor
jaundice
gallstones
splenomegaly
poor growth and development
pronounced forehead and malar eminences
689
Thalassaemia diagnosis
FBC - low MCV
haemoglobin electrophoresis - globin abnormalities
DNA testing
pregnant women offered screening
690
Iron overload symptoms
fatigue
liver cirrhosis
infertility
impotence
heart failure
arthritis
diabetes
osteoporosis and joint pain
691
Iron overload in thalassaemia
result of faulty creation of RBCs, recurrent transfusions and increased absorption of iron in gut in response to anaemia
serum ferritin monitored
manage by limiting transfusions and performing iron chelation
691
What is the gene coding for alpha thalassaemia?
chromosome 16
692
Alpha thalassaemia management
monitor FBC
monitorn for complications
blood transfusions
splenectomy may be performed
bone marrow transplant can be curative
693
What is the gene coding for beta thalassaemia?
chromosome 11
694
What is beta thalassaemia minor?
carriers of abnormally functioning beta globin gene
1 abnormal and 1 normal
causes mild microcytic anaemia, usually only requires monitoring
695
What is beta thalasseamia intermedia?
2 abnormal copies of beta globin gene - either 2 defectives or 1 defective and 1 deletion
more significant microcytic anaemia
requires monitoring and occasional blood transfusions, may need iron chelation to prevent iron overload
696
What is beta thalassaemia major?
homozygous for deletion genes, no functioning beta globin genes
causes severe microcytic anaemia, splenomegaly, bone deformities and failure to thrive in early childhood
manage w/ regular transfusions, iron chelation and splenectomy
bone marrow transplant can be curative
697
What is sickle cell anaemia?
genetic condition, causes sickle shaped RBCs, makes them more fragile and easily destroyed, leading to haemolytic anaemia
pts are prone to various sickle cell crises
698
Sickle cell anaemia pathophysiology
Around 32-36wks, fetal haemoglobin production decreases, transitions to adult. At birth, it's 50% HbA and 50% HbF, and HbF continues to decrease
In sickle cell, it's haemoglobin S
699
Sickle cell anaemia genetics
autosomal recessive, affects beta-globin gene on chromosome 11
pts w/ trait usually asymptomatic, 2 copies = disease
700
Sickle cell anaemia and malaria
more common in pts from areas traditionally affected by malaria (Africa, India, Middle East, Caribbean)
having one copy of gene reduces malaria severity, as result pts w/ sickle cell trait more likely to survive and pass on their genes
Selective advantage
701
Sickle cell anaemia screening
newborn blood spot screening at 5 days old
pregnant women at high risk of being carriers of gene are offered testing
702
Sickle cell anaemia complications
anaemia
increased risk of infection
chronic kidney disease
sickle cell crises
acute chest syndrome
stroke
avascular necrosis
pulmonary HTN
gallstones
priapism (painful and persistent erections)
703
Sickle cell crisis triggers
dehydration
infection
stress
cold weather
704
Sickle cell crisis management
supportively:
low threshold for admission
treat infections
keep warm
good hydration
analgesia (analgesia avoided where renal impairment)
705
What is a vaso-occlusive crisis?
painful crisis: sickle-shaped RBCs clogging capillaries causing distal ischaemia
swelling in hands or feet
pain across body
priapism in men - urological emergency, aspirate blood
706
What is splenic sequestration crisis?
med emergency
RBCs blocking blood flow w/in spleen
causes acutely enlarged and painful spleen
blood pooling can lead to severe anaemia and hypovolaemic shock
supportive management - blood transfusion and fluid resuscitation to treat anaemia and shock
splenectomy prevents in recurrent cases
707
Splenic sequestration complication
can lead to splenic infarction, leading to hyposplenism and susceptibility to infections, particularly by encapsulated bacteria (eg streptococcus pneumoniae and haemophilius influenzae)
708
What is aplastic crisis?
temporary absence of creation of new RBCs
usually triggered by parvovirus B19
leads to significant anaemia
supportive management w/ blood transfusions if needed
usually resolves spontaneously w/in a wk
709
What is acute chest syndrome?
vessels supplying lungs become clogged w/ RBCs
Triggered by vaso-oclusive crisis, fat embolism or infection
presents w/ fever, SOB, chest pain, cough and hypoxia
CXR = pulmonary infiltrates
med emergency, high mortality
710
Acute chest syndrome management
treat underlying cause
analgesia
good hydration
abx or antivirals for infection
blood transfusions
incentive spirometry
resp support - o2, non-invasive ventilation, mechanical ventilation
711
Sickle cell anaemia management
avoid triggers for crises eg dehydration
up-to-date vaccines
antibiotic prophylaxis - protect against infection, typically w/ penicillin V
hydroxycarbamide (stimulates HbF)
crizanlizumab
blood transfusions
bone marrow transplant can be curative
712
How does hydroxycarbamide treat sickle cell anaemia?
stimulates production of HbF, doesn't lead to sickling of RBCs unlike HbS
reduces frequency of vaso-occlusive crises, improves anaemia and may extend lifespan
713
How does crizanlizumab treat sickle cell anaemia?
monoclonal antibody that targets p-selectin - an adhesion molecule on endothelial cells on inside walls of blood vessels and platelets
prevents RBCs from sticking to blood vessels and reduces frequency of vaso-occlusive crises
714
What is haemolytic disease of the newborn?
haemolysis and jaundice in neonates
caused by incompatibility between rhesus antigens on surface of RBCs of mother and fetus
rhesus D antigen
715
Haemolytic disease of newborn pathophysiology
when woman that is rhesus D -ve becomes pregnant, have to consider fetus will be rhesus D +ve
If blood from fetus finds way into maternal bloodstream, mother's body will produce antibodies to rhesus D, and mother becomes sensitised to rhesus D antigens
Usually, sensitisation doesn't cause problems in first pregnancy, but in future the mother's anti-D antibodies can cross placenta to fetus
If the fetus is +ve, the antibodies will attach and cause immune system of fetus to attack its own RBCs
leads to haemolysis - anaemia and high bilirubin lvls
716
How do you check for immune haemolytic anaemia?
direct Coombs test
717
What is Von Willebrand disease?
most common inherited cause of abnormal and prolonged bleeding
mostly autosomal dominant
absence or malfunctioning of glycoprotein von Willebrand factor - important in platelet adhesion and aggregation in damaged vessels
718
What are the types of von Willebrand disease?
Type 1 = partial deficiency of VWF, most common and mildest
Type 2 = reduced function of VWF
Type 3 = complete deficiency of VWF, most rare and severe
719
Von Willebrand disease presentation
hx of unusually easy, prolonged or heavy bleeding:
- bleeding gums w/ brushing
- nosebleeds
- easy bruising
- menorrhagia
- heavy bleeding during and after surgical operations
720
Von Willebrand disease diagnosis
based on history of abnormal bleeding, family history, bleeding assessment tools and lab investigations
721
Von Willebrand disease management
needed in response to significant bleeding or trauma or to prevent
- desmopressin - stimulates release of vWF from endothelial cells
- tranexamic acid
- von Willebrand factor infusion
- factor VIII plus von Willebrand factor infusion
722
Options to treat heavy menstrual periods
tranexamic acid
mefenamic acid
mirena coil
combined oral contraceptive pill
norethisterone
hysterectomy in severe cases
723
What is gastroenteritis?
inflammation from stomach to intestines
gastritis = stomach, N&V
enteritis = intestines, diarrhoea
v. common in children
usually viral cause
biggest concern is dehydration
724
What is steatorrhoea?
greasy stools w/ excessive fat content
suggests problems digesting fats, eg pancreatic insufficiency, cystic fibrosis
725
Diarrhoea differential diagnosis
infection
IBD
lactose intolerance
coeliac disease
cystic fibrosis
toddler's diarrhoea
IBS
medications
726
Causes of viral gastroenteritis
rotavirus
norovirus
adenovirus - less common, subacute diarrhoea
727
Bacterial causes of gastroenteritis
E.coli
campylobacter jejuni
shigella
salmonella
bacillus cereus
yersinia enterocolitica
staphylococcus aureus toxin
giardiasis
728
E.coli
spread through infected faeces, unwashed salads or contaminated water
abx should be avoided if E.coli gastroenteritis is considered, as it increases risk of haemolytic uraemic syndrome
729
What e.coli produces Shiga toxin?
E.coli 0157
causes abdo cramps, bloody diarrhoea and vomiting
730
Campylobacter jejuni
traveller's diarrhoea
'curved bacteria' - gram -ve
incubation = 2-5 days
abx considered if symptoms severe or other RF (azithromycin or ciprofloxacin)
731
How is campylobacter jejuni spread?
raw or improperly cooked poultry
untreated water
unpasteurised milk
732
Shigella
spread by faeces contaminating drinking water, swimming pools and food
incubation = 1-2days
symptoms usually resolve w/in 1wk w/out treatment
can produce Shiga toxin and cause haemolytic uraemic syndrome
treat severe cases w/ azithromycin or ciprofloxacin
733
Salmonella
spread by raw eggs or poultry, food contaminated w/ infected faeces or small animals
incubation = 12hrs - 3days
usually resolve w/in a wk
abx only necessary in severe cases, guided by stool culture and sensitivities
734
Bacillus cereus
gram +ve rod
inadequately cooked food, food not immediately refrigerated after cooking eg fried rice left out at room temp
produces cereulide
causes abdo cramps and vomiting w/in 5hrs of ingestion
all symptoms resolve w.in 24hrs usually
735
Yersinia enterocolitica
gram -ve bacillus
pigs - raw or undercooked pork
most frequently affects children
incubation = 4-7 days
abx only necessary in severe cases
736
Yersinia enterocolitica presentation
Younger children: watery or bloody diarrhoea, abdo pain, fever and lymphadenopathy
Older children/adults: R.sided abdo pain due to mesenteric lymphadenitis and fever
737
Staphylococcus aureus toxin
staph aureus can produce enterotoxins when growing on food eg eggs, dairy and meat
when eaten these toxins cause small intestine inflammation
symptoms start w/in hrs of ingestion and settle w/in 12-24hrs
caused by enterotoxin not the bacteria
738
Giardiasis
giardia lambia - microscopic parasite
in small intestines of mammals eg pets, farmyard animals or humans
releases cysts in stools of infected mammals that contaminate food or water and are eaten (faecal-oral transmission)
may not cause symptoms, may cause chronic diarrhoea
diagnose w/ stool microscopy
treat w/ metronidazole
739
Gastroenteritis management
isolate to prevent spread
good hygiene
sample of faeces tested w/ microscopy, culture and sensitivities
attempt fluid challenge, use rehydration solutions and IV fluids if needed
slowly introduce diet again
antidiarrhoeal meds not recommended
abx given in pts at risk of complications once causative organisms confirmed
740
Post gastroenteritis complications
lactose intolerance
irritable bowel syndrome
reactive arthritis
Guillain-Barre syndrome
741
What is toddler's diarrhoea?
aged 1 - 5
non-serious issue
frequent, watery stools, often w/ undigested food visible
manage by adjusting diet, encourage hydration
742
What is neonatal hepatitis syndrome?
grp of disorders characterised by liver inflammation in newborns, often manifesting as jaundice and impaired liver function
Caused by viral infections or idiopathic
743
Renal malformation examples
- renal agenesis = complete absence of one or both kidneys
- renal hypoplasia = abnormally small kidneys
- renal dysplasia = abnormally formed kidneys
- fused kidneys = kidneys joined together, eg horseshoe
- renal ectopy = kidneys in wrong position
- polycystic kidney disease
744
Most common hypothalamic tumour in children
optic pathway / hypothalamic gliomas - brain tumour that results from abnormal growth of glial cells, which support nerve cells
745
Symptoms of hypothalamic tumours
visual disturbances
hypothalamic dysfunction - appetite, thirst, sleep, body temp regulation
seizures
early puberty
behavioural changes
746
Causes of anaemia in infancy
phsyiologic anaemia of infancy
anaemia of prematurity
blood loss
haemolysis
twin-twin transfusion
747
What is physiologic anaemia of infancy?
common, temporary condition
haemoglobin lvls naturally decline in healthy term infants during first few months after birth
doesn't usually require intervention
748
Physiologic anaemia of infancy pathophysiology
normal dip in haemoglobin around 6-9wks of age in healthy term babies
high oxygen delivery to tissues caused by high haemoglobin lvls at birth cause -ve feedback
Erythropoietin production by kidneys is suppressed and subsequently there's reduced production of haemoglobin by bone marrow
high oxygen results in lower haem production
749
Why are premature neonates anaemic?
less time in utero receiving iron from mother
RBC creation can't keep up w/ rapid growth in first few wks
reduced erythropoietin lvls
blood tests remove significant portion of circulating vol
750
Causes of anaemia in older children
iron deficiency anaemia - 2nd to dietary insufficiency
blood loss - menstruation
haematological diseases - sickle cell, thalassaemia, leukaemia, hereditary spherocytosis and eliptocytosis
751
What is helminth infection?
common cause of blood loss causing chronic anaemia and iron deficiency
roundworms, hookworms, whipworms (parasites)
v. common in developing countries and those living in poverty
treat w/ single dose albendazole or mebendazole
752
Microcytic anaemia causes
TAILS
Thalassaemia
Anaemia of chronic disease
Iron deficiency anaemia
Lead poisoning
Sideroblastic anaemia
753
Normocytic anaemia causes
3As and 2Hs
Acute blood loss
Anaemia of chronic disease
Aplastic anaemia
Haemolytic anaemia
Hypothyroidism
754
What is sideroblastic anaemia?
body unable to properly use iron to produce haemoglobin
results in accumulation of iron w/in mitochondria of developing RBCs, forming ringed sideroblasts (immature RBCs containing iron deposits)
755
Macrocytic anaemia differences
Normoblastic or
Megalobastic = result of impaired DNA synthesis preventing cell from dividing normally. Rather than dividing it keeps growing into a large, abnormal cell. Causes vitamin deficiency
756
Megalobastic anaemia causes
B12 deficiency
757
Normoblastic macrocytic anaemia causes
alcohol
reticulocytosis
hypothyroidism
liver disease
drugs eg azathioprine
758
Symptoms of anaemia
tiredness
SOB
headaches
dizziness
palpitations
worsening of other conditions
759
Iron deficiency anaemia symptoms
pica
hair loss
760
Signs of anaemia
pale skin
conjunctival pallor
tachycardia
raised resp rate
koilonychia
angular chelitis
atrophic glossitis
brittle hair and nails
jaundice
761
Anaemia investigations
FBC - haem and MVC
blood film
reticulocyte count
ferritin
B12 and folate
bilirubin
direct Coombs test
haemoglobin electrophoresis
762
Anaemia management
establish underlying cause and directing treatment
eg iron deficiency = supplements
severe = blood transfusions
763
Haemophilia A and B causes
A = factor VIII deficiency
B = factor IX deficiency
764
Haemophilia genetics
x-linked recessive
Males only require one abnormal copy, females require two, but are asymptomatic carriers if have one copy
so, primarily affects males
765
Haemophilia features
excessive bleeding in response to minor trauma
spontaneous bleeding w/out trauma
most present in early childhood w/ intracranial haemorrhage, haematomas and cord bleeding
766
Haemophilia diagnosis
bleeding scores
coagulation factor assays
genetic testing
767
Haemophilia management
clotting factors VIII or IX given IV either regularly or in response to bleeding
complication = antibody formation against treatment, making it ineffective
768
What is Edwards syndrome?
Trisomy 18
life-limiting, usually die w/in 1st yr
often have severe heart and kidney defects, stunted growth, organ abnormalities
diagnose through combined screening test in pregnancy or non-invasive prenatal testing
769
What is Patau syndrome?
trisomy 13
affects face, brain and heart development
results in miscarriage or baby passing away before turning 1
small head, low set ears, cleft palate
770
What is a discoid meniscus?
congenital disorder where knee's meniscus (a crescent-shaped cartilage) develops abnormally, appearing more like a disc / saucer
leads to instability of lateral compartment
usually asymptomatc but may worsen if meniscal tear occurs
771
Which side is a discoid meniscus more likely?
lateral more than medial
772
What is torticollis?
stiff neck that makes it hard or painful to turn your head
shortened sternocleidomastoid
congenital or acquired
causes stiff and swollen neck muscles
treat w. gentle muscle stretches and position changes
773
Scoliosis
spine curves abnormally, often resembling S or C
idiopathic, congenital or neuromuscular
774
What part of spine does scoliosis affect most commonly?
adolescents = thoracic
adults = lumbar or lower spine
775
Scoliosis treatment
Conservative - monitor, analgesia, exercise, back brace, manage underlying conditions
scoliosis surgery to stabilise spine, relieve pressure and restore balance
776
Extended or severe hypoxia can lead to...
anaerobic respiration
bradycardia
reduced consciousness
reduced resp effort
hypoxic-ischaemic encephalopathy, potentially leading to cerebral palsy
777
AGPAR score
0-2 for each, 0 being bad
Appearance
Pulse
Grimace (stimulation response)
Activity (muscle tone)
Respiration
778
Advantages of delayed umbilical cord clamping
increased haemoglobin and iron stores
more stable bp
reduced risk of intraventricular haemorrhage
reduces risk of necrotising enterocolitis
reduced mortality in preterm newborns
779
Disadvantages of delayed cord clamping
increases risk of neonatal jaundice, requiring phototherapy
guidelines recommend delay of at least 60secs from birth if resus isn't needed
780
Neonatal resuscitation principles
tone
breathing effort
heart rate
colour
dry and warm newborn asap
support breathing if needed
oxygen sats monitored
781
Neonatal breathing support at birth
stimulate newborn
place head in neutral position to keep airway open
check for airway obstruction
5 inflation breaths if not breathing
782
What is used for newborn inflation breaths?
air for term or near term newborns
additional oxygen for preterm newborns
783
What is respiratory distress syndrome
affects premature neonates, born before lungs produce adequate surfactant
commonly occurs <32wks
cxr = ground glass appearance
784
Respiratory distress syndrome pathophysiology
inadequate surfactant leads to high surface tension w/ alveoli
leads to atelectasis (lung collapse), as more difficult for alveoli and lungs to expand
inadequate gas exchange, results in hypoxia, hypercapnia and resp distress
785
Respiratory distress syndrome management for mothers
antenatal steroids eg dexamethasone
increases surfactant and reduces incidence and severity of resp distress in baby
786
Respiratory distress syndrome management for premature neonates
intubation and ventilation
endotracheal surfactant
continuous +ve airway pressure (CPAP)
supplementary oxygen
787
Respiratory distress syndrome short term complications
pneumothorax
infection
apnoea
intraventricular haemorrhage
pulmonary haemorrhage
necrotising enterocolitis
788
Respiratory distress syndrome long term complications
chronic lung disease of prematurity
retinopathy of prematurity
neurological, hearing and visual impairment
789
What is bronchopulmonary dysplasia?
long-term lung dysfunction in premature babies
usually diagnosed when infant requires o2 beyond 36wks gestational age
lung inflammation, oxidative stress and growth factors contribute to development
lungs undergo abnormal repair and remodelling, leading to changes that impair lung function
790
Bronchopulmonary dysplasia risk factors
- increase risk w/ lower gestational age and birth weight
- maternal smoking
- intrauterine growth restriction
791
Bronchopulmonary dysplasia features
low o2 sats
increased work of breathing
poor feeding and weight gain
crackles and wheezes on auscultation
increased susceptibility to infection
792
Bronchopulmonary dysplasia prevention
corticosteroids (IM betamethasone) given to mothers w/ signs of premature labour at <35wks
Reduce risk by:
- use CPAP rather than intubation and ventilation
- use caffeine to stimulate resp effort
- not over-oxygenating w/ supplemental o2
793
Bronchopulmonary dysplasia management
overnight oximetry study to record o2 sats to support diagnosis and guide management
discharge home w/ low dose home o2, slowly wean
monthly plaivizumab injections - protect against resp syncytial virus (RSV) and bronchiolitis
794
TORCH infection causes
Toxoplasma gondii
Other agents - VSV, treponema pallidum, parovirus B19, HIV
Rubella
Cytomegalovirus
Herpes simple virus
795
TORCH infection complications
preterm birth
delayed development
physical malformations
loss of pregnancy
796
What is TORCH infection?
infection of developing fetus or newborn that can occur in utero during delivery or after birth
transmission through placenta, while in birth canal or through breast milk
797
TORCH infection symptoms
non-specific:
fever
lethargy
cataracts
jaundice
microcephaly
blueberry muffin rash
weight loss
hearing loss
798
What is gastroschisis?
birth defect, baby's abdo wall doesn't close completely, causing intestines to protrude outside body
no protective sac, so open to amniotic fluid
diagnose between 18-20 wks pregnancy
surgical repair
799
Gastroschisis v omphalocele
in omphalocele, a membrane covers your baby's organs
can be seen on US before baby is born
800
What is oesophageal atresia?
rare birth defect where oesophagus doesn't fully develop and is blocked, preventing food from reaching stomach
diagnosed before birth, appears on US at 20wks
801
Oesophageal atresia symptoms and management
S = choking, coughing, cyanosis
M = surgery, needs medical assistance to eat in meantime
802
Intestinal atresia
congenital condition where section of intestine not fully develoed or blocked, preventing passage
categorised based on location of blockage
may see abdo distension, vomiting and failure to pass meconium
seen on US prenatally
treat w/ surgery
803
Neonatal hypoglycaemia definition
blood glucose lvl < 30mg/dL (2.65 mmol/L) in first 24hrs and below 45mg/dL (2.5mmol/L) thereafter
804
Neonatal hypoglycaemia causes
prematurity
small or large for gestational age
maternal diabetes
perinatal asphyxia
poor feeding
infection
805
What is a cleft lip?
congenital condition where there's a split or open section of upper lip
opening can occur at any point along top lip, and can extend as high as nose.
Can occur randomly, but having relative makes it more likely
806
What is a cleft palate?
defect exists in hard or soft palate at roof of mouth
leaves opening between mouth and nasal cavity
cna occur w/ a cleft lip or on their own
807
Cleft lip and palate complications
feeding, swallowing and speech problems
psycho-social implications
more prone to hearing problems, ear infections and glue ear
808
Cleft lip and palate management
MDT
priority to ensure baby can eat and drink - special bottles and teats
surgical correction
809
Children phases of growth
first 2yrs = rapid growth driven by nutritional factors
2yrs - puberty = steady slow growth
during puberty = rapid growth spurt driven by sex hormones
810
Overweight and obese definitions
overweight - BMI > 85th percentile
obese - BMI > 95th
811
Developmental red flags
- lost developmental milestones
- not able to hold object at 5m
- not sitting unsupported at 12m
- not standing independently at 18m
- not walking independently at 2yrs
- not running at 2.5yrs
- no words at 18m
- no interest in others at 18m
812
Examples of inactivated vaccines
polio
flu
hepatitis A
rabies
813
Subunit and conjugate vaccines examples
pneumococcus
meningococcus
hepatitis B
pertussis
haemophilus influenza type B
human papillomavirus
shingles
814
Live attenuated vaccines examples
measles, mumps and rubella
BCG
chickenpox
nasal influenza
rotavirus
815
Toxin vaccines examples
diphtheria
tetanus
816
8 weeks vaccines
- 6 in 1 (diphtheria, tetanus, pertussis, polio, haemophilia influenzae type B, hep B)
- meningococcal type B
- rotavirus
817
12 wks vaccines
- 6 in 1
- pneumococcal
- rotavirus
818
16 wks vaccine
- 6 in 1
- meningococcal type B
819
1 yr vaccines
- 2 in 1 (haemophilus influenzae type B and meningococcal type C)
- pneumococcal
- MMR
- meningococcal type B
820
2-8 yrs vaccines
influenza vaccine
821
3 yrs 4 months vaccines
- 4 in 1 (diphtheria, tetanus, pertussis, polio)
- MMR
822
12-13 yrs vaccine
HPV - 2 doses given 6-24m apart
823
14 yrs vaccines
- 3 in 1 (tetanus, diphtheria and polio)
- meningococcal grps A, C, W and Y
824
Human papillomavirus vaccine
ideally given before sexually active, to prevent spread when they are active
Gardasil is current vaccine
825
HPV virus strains
6 and 11 = genital warts
16 and 18 = cervical cancer
826
BCG vaccine
for TB
offered from birth to babies at higher risk of TB, eg babies w/ relatives from countries of high TB prevalence or live in urban areas w/ high rates
827
What is listeria?
gram +ve bacteria that causes listeriosis
more likely in pregnant women
828
Listeria infection presentation
may be asymptomatic, but can cause flu-like illness, or less commonly cause pneumonia or meningoencephalitis
high rate of miscarriage or fetal death
can cause severe neonatal infection
829
Listeria transmission
typically by unpasteurised dairy products, processed meats and contaminated foods
pregnant women advised to avoid high-risk foods (eg blue cheese) and practice good food hygiene
830
Grp B streptoccocus infection in neonates
common bacteria found in vagina, doesn't cause problems for mother, but can be transferred to baby during labour and cause neonatal sepsis
prophylactic abx during labour used to reduce risk of transfer if mother is found to have GBS in vagina
can cause sepsis, in babies
831
Neonatal sepsis management
benzylpenicillin and gentamycin
3rd gen cephalosporin (cefotaxime) given in lower risk babies
check CRP at 24 hrs, blood culture at 36hrs
check crp again at 5 days if still on treatment
832
When can neonatal sepsis treatment be stopped?
if baby is clinically well, blood cultures -ve 36hrs after abs and both CRP results <10
833
