paeds level 2 conditions (pack 1) Flashcards
(210 cards)
1
Q
Birth Asphyxia/ Hypoxic Ischaemic encephalopathy (HIE):
- what is it?
- groups of causes? 5 (with example causes)
A
HIE = Clinical syndrome of brain injury – secondary to hypoxic ischaemic insult (2/1000 live births)
- Decreased Umbilical blood flow e.g. Cord prolapse
- Decreased placental gas exchange e.g. placental abruption
- Decreased maternal placental perfusion e.g. abruption, Accreta
- Maternal hypoxia
- Inadequate postnatal cardiopulmonary circulation
2
Q
SIGNS OF Hypoxic Ischaemic encephalopathy (HIE):
- mild? 5
- moderate? 6
- severe? 10
(also rough prognosis of each)
A
MILD
- muscle tone increased
- tendon reflexes brief
- poor feeding
- excessive crying
- sleepiness
(typically resolves in 24hrs)
MODERATE
- lethargy
- hypotonia
- apnoeic periods
- diminshed deep tendon reflexes
- grasp, moro + sucking reflexes poor / absent
- seizures within 24hrs of birth
(full recovery 1-2 weeks is possible)
SEVERE
- hypotonia
- coma / stupor
- depressed deep tendon reflexes
- neonatal reflexes absent
- bulging fontanelle
- irregular breathing
- irregular HR and BP
- disturbed ocular motion (eg nystagmus, skewed deviation)
- pupils dilated, fixed, poorly reactive to light
- seizures (may be resistant to treatment, generalised, freq may increase in early period - with progression seizures subside)
3
Q
Hypoxic Ischaemic encephalopathy (HIE):
- how to detect abnormalities intrapartum?
- test done on all babies at birth to screen for HIE?
- additional test done at birth for babies at risk of HIE?
- additional bloods which can consider?
- additional other investigations which can consider?
A
may be CTG abnormalities
- can also do scalp blood test
All babies get APGAR score
if risk of HIE, do cord gases after birth (pH <7.0 = encephalopathy)
additional bloods to consider - U+Es - cardiac enzymes - LFTs - coagulation screen ^basically to see how much damage done to these organs
other tests to consider
- MRI head
- echo of heart
- EEG
4
Q
APGAR score
- What does it stand for? (ie what features does it look at)?
- max possible score? healthy score?
- how many minutes after birth is it done? 2
A
ACTIVITY (muscle tone)
- 0 = absent
- 1 = arms + legs flexed
- 2 = active movement
PULSE
- 0 = absent
- 1 = below 100 bpm
- 2 = over 100 bpm
GRIMACE (reflex irritability)
- 0 = flaccid
- 1 = some flexion of extremities / grimace
- 2 = cries on stimulation / sneezes / coughs
APPEARANCE (skin colour)
- 0 = blue or pale
- 1 = body pink, extremities blue
- 2 = completely pink
RESPIRATORY EFFORT
- 0 = absent
- 1 = slow, irregular
- 2 = vigorous cry
max score is 10
- 7-10 is normal
- 4-6 is moderately depressed
- 0-3 is severely depressed
done at:
- 1 min
- 5 mins
nb DON’T BOTHER LEARNING INS AND OUTS! JUST GET THE GIST OF THIS AND WHAT A NORMAL SCORE
5
Q
Hypoxic Ischaemic encephalopathy (HIE):
- treatment with most efficacy? how long for?
- other thing to treat? 1
- important things to monitor? 3
A
THERAPEUTIC HYPOTHERMIA
- 33-33.5 deg for 72 hours
- followed by slow and controlled rewarming
- stops glutamine and free radicals from being released
treat seizures
MONITOR
- blood glucose
- EEG
- fluid levels (mild fluid restriction
6
Q
Possible complications of HIE? 6
A
- death
- dyskinetic cerebral palsy
- severely reduced IQ
- epilepsy
- cortical blindness
- hearing loss
7
Q
BIRTHMARKS
- definition?
- two main groups?
A
Coloured marks that are visible on the skin – present at birth or develop soon after birth
VASCULAR
- Often red, purple or pink
- Caused by abnormal blood vessels in or under the skin
- Often on head and neck area – mainly the face
- If affected vessels are deep, birthmark can appear blue.
PIGMENTED
- Usually brown
- Caused by clusters of pigmented cells.
8
Q
NEVUS SIMPLEX
- Two other names for them?
- appearance? (incl location)
- what % of babies will have?
- prognosis?
A
AKA
- stork mark
- salmon patch
Flat red/ pink patches that appear on eyelids, neck or forehead at birth
- more noticeable when baby cries
50% of babies will have
- most common type of vascular birth mark
will fade within months (up to 4 years if on forehead)
9
Q
INFANTILE HAEMANGIOMA
- aka?
- appearance?
- when treat? 3
- what is treatment?
- prognosis?
A
strawberry mark
usually not present at birth but may develop rapidly in the first month of life. They appear as erythematous, raised and multilobbed tumours
Raised red mark anywhere on body
- 5% of babies, esp girls
TREAT IF:
- grows rapidly
- interferes with feeding
- interferes with vision
treatment = systemic propranolol (or topical beta blockers)
typically increase in size until around 6-9 months then regress over next few years
- 95% resolve before age 10
10
Q
PORT WINE STAIN
- appearance?
- what to rule out? how?
- prognosis?
- treatment option?
A
Permanent, flat, red or purple marks
- Often on one side of body
- is a capillary malformation
Rule out Sturge-Weber syndrome: seizures, learning disorders, glaucoma, port wine mark
- DO MRI!!
Permanent, may deepen in colour over time
- is also sensitive to hormones (puberty, pregnancy, menopause)
can have multiple sessions of laser therapy to reduce appearance
- or use camouflage make up
11
Q
CAFE AU LAIT SPOTS
- appearance?
- what’s normal?
- when get suspicious that could be due to an underlying condition? which condition?
A
Coffee coloured skin patches
One or two is normal – if >6 develop by age 5, review needed
Rule out neurofibromatosis type 1
(Growth of tumours along nerves in the skin)
12
Q
MONGOLIAN BLUE SPOTS:
- appearance?
- who most commonly seen in?
- prognosis?
- what can be mistaken for?
A
Blue/grey or bruised looking birthmarks
- Present from birth
- Occur over lower back or buttocks
Commonly seen in darker-skinned people
May last for months – years (usually disappear by 4)
Important new baby check – may be mistaken for bruises later on
13
Q
CONGENITAL MELANOCYTIC NAEVI
- appearance?
- what is there a risk of them becoming? what increases the risk?
A
Congenital moles
- Large, black or brown moles from birth
Fairly common
May change over time
Risk of skin cancer is low
- Risk with increased size
14
Q
What are the three types of extra-cranial head injury that can occur due to trauma at birth?
- How do you tell the difference between then? (when appear, appearance and findings on palpation, cross suture lines or not)
A
CAPUT SUCCEDANUM
- most superficial
- localised scalp oedema
- fluid collection is greatest immediately following delivery (and will then decrease)
- soft to touch with irregular margins
- cross suture lines
CEPHALOHAEMATOMA
- rupturing of blood vessels between periosteum and bone
- firm, tender mass
- appears hours to days after birth and can increase in size for 2-3 days
- DON’T cross suture lines (even when increases in size)
SUBGALEAL HAEMORRHAGE
- damage to veins between the scalp and intracranial venous sinuses
- boggy fluid collection with ballotable fluid wave beneath the scalp + bleeding extending to above the eyes and back to the insertion of trapezius muscle
- occiptal frontal circumference will increase (potential for large blood loss - need to be monitored)
- cross suture lines
- vacuum procedure gives highest risk of this
nb these can all happen in any birth but all are more likely in instrumental delivery
15
Q
CEPHALOHAEMATOMA:
- how long will it take to resolve?
- when should you do a CT head? 2
A
resolves over a few weeks
do CT head if:
- neurological impairment seen
- concern for skull fracture
16
Q
HAEMOLYTIC DISEASE OF THE NEWBORN:
- describe the pathophysiology
- how is it prevented?
A
Foetus Rh positive
Mother Rh Negative
(Father usually Rh Positive)
Sensitising event makes mother produce anti bodies to Rh positive blood
On second exposure anti-Rh antibodies cross the placenta and destroy foetal RBCs
Effect seen on delivery, when baby cannot cope with haemolysis.
PREVENTION
- all mothers tested for rhesus antibodies
- rhesus -ve mothers given anti-D at 28wks and any sensitising events (eg bleeding after 24wks, miscarriage, amniocentesis etc)
17
Q
HAEMOLYTIC DISEASE OF THE NEWBORN:
- antenatal presentation? (incl latin name)
- postnatal presentation?
A
ANTENATAL (ie on USS)
- hydrops fetalis: abnormal accumulation of fluid in two or more foetal compartments (eg ascites, pleural effusion, skin oedema)
POSTNATAL
- early jaundice (in first 24hrs)
- hepatosplenomegaly
- coagulopathy
- thrombocytopaenia
- anaemia (may be a later sign)
18
Q
main groups of DDx for jaundice in first 24hrs of birth? 4
A
nb almost always HAEMOLYTIC cause in first 24hrs of life:
1) ABO incompatibility
2) rhesus or other isoimmunisation
3) red cell defects (eg G6PD deficiency, spherocytosis)
4) congenital infection (eg TORCH)
19
Q
HAEMOLYTIC DISEASE OF THE NEWBORN:
- bloods from mother? 1
- bloods from infant? 3
A
MOTHER
- group and rhesus status
INFANT (can do as cord blood)
- FBC (low Hb, increased reticulocytes, low platelets)
- coombs test
- LFTs (increased bilirubin)
20
Q
HAEMOLYTIC DISEASE OF THE NEWBORN:
- symptomatic management options? 2
- other management? 1
A
TREATMENT FOR JAUNDICE
- plot on line (make sure using correct chart for gestational age) then UV light and/or exchange transfusion
consider IV Ig as definitive treamtent
- this may not be necessary though, but monitor closely!!
21
Q
PREMATURITY:
- definition?
- at what gestation are most problems seen though?
- If an infant is born prematurely, what full history should be taken?
- risk factors for prematurity? 11 (as identified in the hx)
- what percentage of premature births are idiopathic? (ie have no risk factors)
A
birth before 37 wks gestation (8%)
most problems seen in infants born <32 wks (2%)
TAKE FULL OBSTETRIC Hx
RISK FACTORS:
- young maternal age
- previous premature birth
- cervical incompetence
- multiple pregnancies
- gestational HTN / pre-eclampsia
- antepartum haemorrhage
- congenital infection (TORCH)
- certain medications during pregnancy
- maternal smoking
- maternal alcohol
- domestic violence
40% have no known risk factors
22
Q
COMPLICATIONS ASSOCIATED WITH PREMATURITY:
- CNS? 4
- metabolic? 4
- blood? 2
- cardiovascular? 2
- respiratory? 3
- GI? 5
- other? 2
- later? 4
A
CNS
- intraventricular haemorrhage (bleeding into ventricular system, can lead to cerebral palsy)
- periventricular leukomalacia (white matter surrounding ventricle deprived of blood and oxygen -> softening)
- cerebral palsy
- retinopathy of prematurity (ROP)
(also higher risk of HIE during delivery)
METABOLIC
- hypoglycaemia
- electrolyte imbalance
- hypocalcaemia (poor renal function)
- osteopenia of prematurity (w risk of fractures)
BLOOD
- anaemia of prematurity
- neonatal jaundice
CARDIOVASCULAR
- hypotension
- patent ductus arteriosus
RESPIRATORY
- surfactant deficiency -> resp distress syndrome (RDS)
- recurrent apnoea
- chronic lung disease (broncho-pulmonary dysplasia)
GI (incl nutriution)
- inability to suck (lack of reflex)
- poor milk tolerance
- Necrotising enterocolitis (NEC)
- Gastro-oesophageal reflux
- inguinal hernia
OTHER
- hypothermia (poor temp regulation)
- immunocompromised (increased risk of infection)
LATER
- increased risk of adverse neurodevelopment
- behavioural problems
- sudden infant death syndrome (SIDS)
- non-accidental injury (stress of long-term complications)
23
Q
How to antenatally prevent resp distress syndrome?
at what gestation is this given?
A
IM corticosteroids to mother
- 2 doses, 12-24 hrs apart
give if <34 weeks gestation
24
Q
Management of preterm birth:
- where to deliver?
- who present at birth?
- cord clamping?
- how to keep warm if small?
- what resp support can be provided if needed? 3
A
delivery in centre with preterm facilities
<28 weeks, senior paediatrician present at birth
Delay cord clamping for 1 min where possible
to prevent heat loss: can put in polytheme bag at birth to prevent evaporative loss of fluid and heat
- ie if really preterm, do this before drying them
- also warm them
RESP SUPPORT OPTIONS
- PEEP
- intubation
- surfactant replacement therapy (through endotracheal tube)
25
PRETERM INFANTS
- how to manage poor thermoregulation?
- how to minimise risk of infection? 2
- how to manage hypoglycaemia?
- how to feed? (which also reduces risk of NEC)
- how to manage patent ductus arteriosus?
- how to manage retinopathy of prematurity?
- put baby in incubator
- minimal handling of baby
- low threshold for starting broad spec abx
- start feeding as soon as possible, can also add glucose to milk
- get mother to express breast milk and (norm) feed through nasogastric tube (breast milk reduces risk of NEC)
can give NSAIDs (eg iboprofen) to close PDA
- check no duct-dependant heart disease first though
all premature babies are screened for ROP
- if have, treat with laser treatment to the extra blood vessels
26
RESPIRATORY DISTRESS IN THE NEWBORN:
- what RR?
- other signs? 5
- aside
tachypnea, RR = >66
- intercostal recession
- subcostal recession
- grunting (endogenous PEEP)
- nasal flaring
- cyanosis
27
RESP DISTRESS SYNDROME:
- what other risk factors? 5 (aside from prematurity)
- Imaging? 1 (incl findings)
- what things to monitor? 2
OTHER RISK FACTORS
- caesarian section
- hypothermia
- meconium aspiration
- maternal diabetes
- family Hx
CXR
- ground glass appearance in all lung fields
- generalised atelectasis = a complete or partial collapse of a lung or a lobe
- air bronchograms
- reduced lung volume
MONITOR
- spo2
- blood gasses
28
RESPIRATORY DISTRESS SYNDROME
- management? 5 (1 treatment, 3 supportive, 1 prevention)
- prognosis?
- how long does condition normally take to resolve?
- most common complication?
nb also antenatal steroids if poss
1) sufficient oxygen + supporting respiration
- CPAP
- intubation
2) surfactant replacement therapy down endotracheal tube
3) abx - penicillin and gentamicin
- until congenital pneumonia excluded (can mimic or co-exist with RDS)
4) IV fluids
5) NG tube feeding (mothers expressed milk if poss)
generally good prognosis (mortality is 5-10%)
norm resolves over 3-7 days as surfactant production increases
most common complication = bronchopulmonary dysplasia (require O2 at home)
29
What are the two different types of IUGR?
causes of each?
which tends to have better prognosis?
SYMMETRICAL GROWTH RESTRICTION
= head circum and weight equally reduced
= EARLY insult
- genetic
- foetal abnormality
- congenital viral infection (eg TORCH)
- early foetal malnutrition
- early teratogen exposure
ASYMMETRICAL GROWTH RESTRICTION
= head circum significantly higher on centiles than weight
= LATE insult
- tend to have better prognosis (ie less likely to have developmental delay etc)
- late foetal malnutrition
- pre-eclampsia
- smoking
30
Potential complications for IUGR:
- immediate? 4
- late? 2
- hypoglycaemia
- hypothermia
- polycythaemia
- bone marrow / hepatic compromise (thrombocytopenia, neutropenia, coagulopathy)
LATE
- poor post-natal growth
- neurodevelopment impairments
31
TALIPES:
- also known as?
- what is the deformity seen? (describe it)
- two different types? how to tell difference? which needs treatment?
- when is it normally picked up / examined for?
aka neonatal club foot (talipes equinovarus)
- nb bilateral in 50% of cases
inversion + adduction of forefoot
- plantarflexion deformity
TWO TYPES
= postural: CAN be passively everted and dorsiflexed through full range of motion (not concerning)
= structural: can NOT be passively everted and dorsiflexed through full range of motion (needs treatment)
- newborn exam OR 6/8 week exam
32
STRUCTURAL TALIPES:
| - two management options?
Ponseti Method – foot manipulated over 6 weeks, held in long leg plaster cast. Gradual correction
Operation if Ponseti doesn’t work – from 2 years old
33
CHICKEN POX:
- virus it's caused by?
- first sign / symptom?
- other symptoms?
- appearance and distribution of rash?
varicella zoster virus (VZV)
FIRST SIGN = fever (about 2 days before rash)
other symptoms:
- ITCHY RASH
- headache
- anorexia
- signs of URTI (sore throat, coryza, cough)
RASH:
- predominantly starts on torso (also perineum + scalp) then may go over whole body
- lesions evolve: red macules, papules, VESICLES, pustules then crusting/scabs (will have lesions at different stages)
34
CHICKEN POX:
- how is it spread?
- incubation period?
- when most infective?
- when tell parents that children can go back to school?
- how diagnosed?
spread by respiratory droplets or direct contact with lesion
incubation of 10-21 days (norm 14 days)
most infective 4 days before the rash to 5 days after rash first appeared (ie norm when lesions are all crusted over)
should be excluded from school and then can go back when all lesions have crusted over
```
diagnosed clinically (based on appearance and distribution of rash)
- though can do test of vesicular fluid for virus - but very rarely done!
```
35
CHICKEN POX:
- most common complication? 1
- rarer, more serious complications? 4
most common complication is secondary bacterial infected of lesions (eg impetigo)
RARE COMPLICATIONS
- conjunctival lesions
- encephalitis (presents as ataxia about a week after rash appears, good prognosis)
- pneumonia (esp in infants)
- necrotising fascitis
36
CHICKEN POX:
- who is most at risk if infected? 3
- what give them as prophylaxis if have contact? 1
- what give them if they get infected? 1
- pregnant women
- infants under 1 year
- immunocompromised children
Varicella Zoster Immunoglobulins – prophylaxis following contact e.g. when pregnant or on chemo (or give to newborn if antenatal exposure)
Aciclovir if get infected (also use for anyone else who gets complications)
37
MANAGEMENT OF UNCOMPLICATED CHICKEN POX:
- advice to parents?
- options to try to reduce itching? 2
- option if distressing fever?
- who to give antivirals to? 4
cut children's nails (to prevent itching + scarring)
to reduce itching
- calamine lotion
- chlorphenamine (if >1 year)
antipyretics if child is distressed by the fever
GIVE ANTIVIRALS (acyclovir)
- immunosuppressed
- pregnant
- infants <1 year
- get any complications
38
INFECTIVE CONJUNCTIVITIS:
- key features? 3
- how to tell difference between bacterial and viral?
- main differential for infective conjunctivitis?
- sore
- red eyes
- discharge
BACTERIAL:
- purulent discharge
- Eyes may be 'stuck together' in the morning
VIRAL:
- Serous discharge
- Recent URTI
- Preauricular lymph nodes
main differential = allergic conjunctivitis (ie norm w hayfever)
39
MANAGEMENT OF CONJUNCTIVITIS:
- viral?
- bacterial? (incl name of abx)
- advice given to parents? 1
- school exclusion needed?
viral if norm self-limiting within 1-2 wks
bacterial
= chloramphenicol drops OR ointment multiple times a day
ADVICE
- don't share towels while have symptoms
- school exclusion not necessary
(also don't wear contact lenses while have symptoms)
40
NEONATAL CONJUNCTIVITIS:
- likely cause if <48hrs after birth? management?
- likely cause if day 3-4 after birth? management?
- likely cause if >7 days after birth? management?
GONORRHOEA
= within 48hrs of birth
- purulent discharge + swelling of eyelids
- treat w cephalosporin
NEONATAL CONJUNCTIVITIS
= day 3-4
- simple cleaning normally sufficient
CHLAMYDIA
= suspect if after day 7
- diagnosis with monoclonal antibody text
- treat w abx
nb gonorrhoea and chlamydia are vertical transmission
41
ALLERGIC CONJUNCTIVITIS:
- features? 5
- 1st line management?
- Bilateral symptoms conjunctival erythema, conjunctival swelling (chemosis)
- Itch is prominent
- eyelids may also be swollen
- May be a history of atopy
- May be seasonal (due to pollen) or perennial (due to dust mite, washing powder or other allergens)
1ST LINE
= topical or systemic antihistamines
42
Common food allergies? 8
which tend to grow out of?
TEND TO GROW OUT OF:
- cow's milk protein
- soya
- eggs
- wheat
TEND TO HAVE FOR LIFE:
- fish
- shellfish
- peanuts
- tree nuts
43
Possible symptoms of a food allergy:
- most serious presentation?
- other possible symptoms / presentations? 8
ANAPHYLAXIS
- dysphagia
- Diarrhoea +/- blood or mucus
- Vomiting
- Abdominal pain
- Failure of growth/ weight loss
- Eczema
- Erythematous rash – esp. peri-orbital
- Asthma symptoms
nb always think of cow's milk protein allergy if weaning infant starts getting rash or blood in stools and doesn't seem acutely unwell
44
Food allergy:
- two possible ways of testing for it? 2
- if these are negative but allergy still suspected, what investigation to do?
- skin prick test
- blood test for IgE specific to that allergen
if negative: can do controlled exposure in hospital
45
Food allergy:
- dietary advice?
- what give for emergencies? how to describe how to give to parents?
- medication to give if mild reaction?
AVOID FOOD ALLERGIC TO!
give epipen (one for home and one for school nursery)
teach how to use:
- remove blue cap then hold with a fist around and stab into thigh (don't put thumb over end)
- 'orange to the thigh, blue to the sky'
- hear a click
- hold in for 5 secs then remove
can give antihistamines if mild reaction
46
GLANDULAR FEVER:
- other name for it?
- most common virus that causes it?
- which age group most common in?
infectious mononucleosis
- 'mono' in the US
90% is ebstein-barr virus (EBV)
- rarer causes: CMV, HHV-6
most common in teenagers and young adults
47
GLANDULAR FEVER:
- three classical features?
- other possible features? 6 (3 symptoms, 3 clinical signs)
- describe the typical course of the disease?
1) SORE THROAT
2) LYMPHADENOPATHY
3) FEVER
nb lymphadenopathy may be present in the anterior and posterior triangles of the neck
- tend to be firm and non-tender
OTHER POSSIBLE FEATURES:
- malaise
- anorexia
- headache
- palatal petechiae
- splenomegaly (50%, may rarely lead to rupture)
- hepatitis (transient rise in ALT)
PRESENTATION IS VERY VARIABLE
- may be gradual with malaise, anorexia + low-grade fever for 1-2 weeks
- may begin abruptly with high fever and headache
48
what is the main DDx for glandular fever?
How is the pattern of lymphadenopathy differ between these two conditions?
other rarer, but more serious, DDx? 2
TONSILITIS
- typically only upper anterior chain are enlarged
glandular fever
- may be present in anterior and posterior triangles of neck
other DDx
- hodgkins lymphoma
- other haem or solid tumours
49
GLANDULAR FEVER:
- two investigations to order if suspect?
- when to order?
- findings on these?
FBC
- increased lymphocytes and monocytes
- may be thrombocytopenia
- may get a haemolytic anaemia
MONOSPOT
- test for antibody to the virus
- takes 1-2 weeks to become positive
order both in 2ND WEEK of illness (may get false negatives if ordered before this)
50
GLANDULAR FEVER:
- non-pharm management advice? 3
- medication for symptomatic management?
- what medication to avoid? why?
- what else to avoid? why? for how long?
- how long norm take symptoms to resolve?
- rest during early stages
- drink plenty of fluid
- avoid alcohol
- simple analgesia for aches + pains
AVOID ampicillin or amoxycillin when glandular fever suspected
- will cause a maculopapular rash in 99% of pts with glandular fever (may be misdiagnosed as an allergy)
AVOID contact sports for 8 weeks
- to reduce risk of splenic rupture
Symptoms typically resolve after 2-4 weeks
51
KAWASAKI DISEASE:
- pathophysiology?
- age group normally affected?
- systemic vasculitis of unknown aetiology
| - affects children under age of 5 years
52
KAWASAKI DISEASE:
| - What are the 6 diagnostic criteria? (how many do you need to diagnose?)
1) high grade FEVER which lasts >5 DAYS
- nb fever is characteristically resistant to antipyretics
2) bilateral CONJUNCTIVITIS
- non-purulent
3) inflamed + red mouth, CRACKED LIPS, red pharynx
- also STRAWBERRY TONGUE
4) polymorphous RASH
5) changes to extremities: HAND/FOOT palm/soles reddening, oedema and later desquamation (ie PEELING)
6) cervical LYMPHADENOPATHY
"Think:
- fever, nodes, rash
- eyes, mouth, hands/feet"
need at least 5 of the 6 criteria to diagnose kawasaki
nb kawasaki is a clinical diagnosis, there's no specific diagnostic test
53
KAWASAKI DISEASE:
| - what is the main two DDx? 2
main DDx
- scarlet fever
- atypical infection (eg if someone has a sore throat and persistant fever not responding to 1st line abx then maybe try macrolides)
54
KAWASAKI DISEASE
- medications for management? 2
- when do you need to treat by?
- most important complication?
- investigation used to screen for this complication?
MANAGEMENT:
- high dose aspirin
- IV immunoglobulins
treat within 10 days of start of fever! - ie treat fast!
complication = CORONARY ARTERY ANEURYSMS
- screen for with echo
nb this is the most common cause of acquired heart disease in the UK
55
MEASLES:
- describe the course of the disease (incl symptoms, what first symptoms to occur, where does rash start and spread, features of rash)
- also incubation period and when infective from
incubation = 7-14 days (average 10 days)
infective from prodrome until 4 days after rash starts
1st) PRODROME (about 3 days)
- fever
- miserable
- cough
- coryza
- conjunctivitis
^"all the C's"
2nd) KOPLIK SPOTS
- white spots ('grain of salt') on buccal mucosa
- nb doesn't occur in any other condition
3rd) RASH (about day 4)
- starts BEHIND EARS
- then spreads to face + trunk
- discrete maculopapular rash, becoming blotchy and confluent
56
MEASLES:
- mainstay of management? 2
- investigation you can do?
- who may need admission to hospital? 2
- what should you do whenever you see someone with measles?
- school exclusion required?
- what should contacts do?
- fluids
- antipyretics
can test for IgM antibodies within a few days of rash onset
may need admission:
- pregnant women
- immunosuppressed
NOTIFY PUBLIC HEALT
- exclude from school (?how long for**)
- unvaccinated contacts should get urgent MMR vaccine
57
MEASLES:
- age group most common in?
- who at increased risk? 1
- most common complication?
- most common cause of death?
- other possible complications?
pre school + young children
increased risk if have Vit A deficiency
most common
= OTITIS MEDIA
most common cause of death
= PNEUMONIA
OTHER COMPLICATIONS:
- encephalitis: typically 1-2 wks following onset of illness
- subacute sclerosing panencephalitis: very rare, may present 5-10 years after illness
- febrile convulsions
- keratoconjunctivitis, corneal ulceration
- diarrhoea
- increased incidence of appendicitis
- myocarditis
58
PERIORBITAL CELLULITIS:
- also known as?
- what is it?
- which age group most common in?
aka preseptal cellulitis
an infection of the soft tissues anterior to the orbital septum - this includes the eyelids, skin and subcutaneous tissue of the face, but not the contents of the orbit
- nb this is in contrast to orbital cellulitis, which is an infection of the soft tissues behind the orbital septum, and is a much more serious infection
most common in children under 5
- 80% of patients are under 10
- median age of presentation is 21 months
59
PERIORBITAL CELLULITIS:
- common causes / mechanisms of infection?
- common causative organisms? 4
MECHANISMS OF SPREAD:
= sinus or respiratory infection
= cut, scratch, or foreign object in or near the eye
- bite from an insect or animal
- skin infection, such as impetigo
- stye (eyelid bumps) or swelling of the gland that makes tears
CAUSATIVE ORGANISMS:
- Staph. aureus
- Staph. epidermidis
- streptococci
- anaerobic bacteria
nb is more common in winter dt increased prevelence of resp pathogens
60
PERIORBITAL CELLULITIS:
- local symptoms?
- main systemic symptom?
- findings on examination?
- what examination should be performed?
- what signs should NOT be found, but should be examined/tested for? 6 (what would they indicate)
red, swollen, painful eye
- acute onset
- fever
O/E
- erythema and oedema of the eyelids, which can spread onto the surrounding skin
- partial or complete ptosis of the eye due to swelling
PERFORM CRANIAL NERVE EXAM (just ones that affect eye)
SIGNS INDICATIVE OF ORBITAL CELLULITIS:
- pain on eye movement
- restriction of eye movements
- proptosis
- chemosis (oedema of conjunctiva)
- visual disturbance
- RAPD (ie fail swinging light test)
61
PERIORBITAL CELLULITIS:
- main two differentials?
- how to differentiate between?
ORBITAL CELLULITIS
- do neuro exam: will have painful and reduced eye movement, proptosis, visual disturbance and RAPD
- can do imaging to differentiate if not sure
ALLERGIC REACTION
- more likely to be bilateral
- ask about other allergy symptoms (incl PMH + FH)
- ask about any new exposures etc
62
PERIORBITAL CELLULITIS:
- bloods? 2
- other bedside investigation?
- imaging to do if suspect orbital cellulitis? 1
- FBC (raised inflam markers)
- CRP
swab discharge from eye
if suspect orbital cellulitis
= contrast CT of head
63
PERIORBITAL CELLULITIS:
- where should it be managed?
- oral or IV abx? which abx?
- other medication to give?
- main complication to look out for?
All cases should be referred into hospital for assessment
Oral antibiotics are frequently sufficient - usually co-amoxiclav
Children may require admission for observation
give analgesia / anti-pyretics
Monitor for signs of orbital cellulitis
- also, rarely, meningitis
64
BRAIN TUMOURS IN CHILDREN:
- concerning characteristics of a headache?
- other symptoms / signs of raised ICP?
- other symptoms / signs? 3
CONCERNING HEADACHE
- worse on coughing / sneezing
- worse in the morning
- present on walking
- recent onset, worsening or persistent
- any associated neuro and/or focal symptoms
SIGNS OF RAISED ICP
- headache
- vomiting
- seizures
- new-onset squint
- blurred vision
OTHER SYMPTOMS
- new-onset ataxia, clumsiness
- incoordination
- nystagmus
nb brain tumours can often be in cerebellum, hence ataxic etc symptoms
65
BRAIN TUMOUR PRESENTATION BY AGE:
- symptoms/signs at any age? 5
- in young children? 1
- in older children? 3
ANY AGE
- abnormal eye movements
- fits / seizures
- behavioural change (lethargy under 5)
- abnormal balance / walking / coordination
- persistent / recurren t vomiting
YOUNG CHILDREN
- abnormal head position such as: wry neck, head tilt or stiff neck
OLDER CHILDREN:
- persistent / recurrent headache
- blurred or double vision
- delayed or arrested puberty
nb can also get symptoms similar to a stroke but with more insidious onset (eg weakness or loss of sensation down one side of arm
nb if on spinal cord can also present with symptoms of spinal cord compression
nb can also have endocrine effects
66
Differential diagnosis of raised ICP in children/adolescents:
- infective? 3
- non-infective? 4
- brain abscess
- meningitis
- encephalitis
- brain tumour
- seizures / post-ictal
- trauma (incl non-accidental injury)
- idiopathic intracranial hypertension (esp teenagers)
67
Child with symptoms suggestive of raised ICP:
- bedside investigation? 1
- 1st line imaging? 1
ophthalmoscope to look for papilloedema
CT head
68
Commonest type of brain tumour in children?
| - two common subtypes of these? which better prognosis?
GLIOMAS = most common
- either astrocytomas or medulloblastomas
- astrocytomas have best survival rates
nb in children most brain tumours are primary (whereas in adults, most are mets)
69
Which clotting factors are deficient in:
- Haemophilia A?
- Haemophilia B?
what is the inheritance of both conditions?
what proportion have no family history? (ie de novo mutations)
Haemophilia A = factor 8
- VIII
Haemophilia B = factor 9
- IX
- aka christmas disease
both are X-linked recessive
1/3rd have no FHx
nb carrier females are rarely symptomatic
nb haemophilia A is 5x more common than haemophilia B (B is less serious)
70
HAEMOPHILIA:
| - common presentations? 2
- excessive bruising / joint swelling as child learns to crawl / walk (haemarthrosis, haematomas)
- prolonged bleeding following circumcision, tooth eruption
nb rare to present in neonates - the more severe the disease is, the earlier it is likely to present
71
Differential diagnoses for haemophilia? (ie easy bleeding/bruising) 3
- von willebrand disease
- platelet disorder
- non-accidental injury (look at pattern of bruises etc)
72
Haemophilia:
- which clotting test will be prolonged?
- other blood tests to do? 2
- imaging to consider? 2
APTT (activated partial thromboplastin time) is prolonged
- nb bleeding time, thrombin time and prothrombin time will all be normal
- FBC
- factor 8 and factor 9 assay
consider doing:
- head + neck CT/MRI (if injury)
- abdominal / joint USS (if injury / bruising / swelling)
73
HAEMOPHILIA:
- which class of medication should people with haemophilia avoid?
- what activities should children avoid?
- which medication used for management? how often given?
- additional medication that can be used in haemophilia A? (how does it work?)
avoid NSAIDs (they interfere with platelets)
avoid contact sports (but can do other sports)
give IV injections of of factor concentrate (either 8 or 9)
- most families manage this at home
- portacaths are useful
- frequency of injection depends on severity of disease and what doing (eg have more before surgery/dental procedures)
Desmopressin may allow mild haemophilia A to be managed without use of blood products – stimulates endogenous release of factor 8 and Von Willebrand factor
- nb this doesn't work for haemophilia B
nb there is a huge range of disease from mild (who rarely bleed and only need only need prophylaxis for surgery) and severe disease who have spontaneous bleeds and need constant prophylactic factor concentrate
- always ask pts how often take factors, how bad symptoms are etc
74
HENOCH- SCHONLEIN PURPURA:
- also known as?
- what is it? (ie pathophysiology)
- age group most common in?
- what does it normally follow?
- what condition does it overlap with?
aka IgA vasculitis
HSP is an IgA-mediated small vessel vasculitis
most common aged 2-10 years
normally follows an infection (eg an URTI)
There is a degree of overlap with IgA nephropathy (Berger's disease)
75
HENOCH- SCHONLEIN PURPURA:
- which four organ systems does/can it affect? how does it affect each?
- which feature is most responsible for morbidity / mortality?
1) SKIN
- begins as a maculopapular, red rash which gradually becomes a palpable purpuric rash (w localised oedema)
- BUM, ANKLES, EXTENSOR surfaces
2) GUT
- colicky abdo pain (can be mistaken for an acute abdomen)
+/- diarrhoea / vomiting (common)
+/- haematemesis / meleana (less common)
- intussception (may occur)
- perforation (very rare)
3) JOINTS (60%)
- arthralgia of of medium-sized joints
- may progress to an obvious arthritis with red, swollen, tender joints
4) KIDNEYS (50%)
- haematuria is common (concerning if accompanied by proteinuria)
- if severe, can cause acute nephritic or nephrotic syndrome (AKI or CKD follow in a minority)
- renal complications are responsible for majority of morbidity + mortality
nb renal injury is caused by deposition of IgA immune complexes
76
HENOCH- SCHONLEIN PURPURA:
- bedside investigation? 1
- bloods? 2
- additional investigation if suspect renal involvement?
- additional investigation if suspect abdo complication?
- urine dipstick
- FBC (nb pa
- U+E (for renal function)
do USS with biopsy if suspect renal involvement
do relevant abdo investigations, eg USS if suspect intussusception
nb also do obs to rule out more serious causes of purpuric rash
77
HENOCH- SCHONLEIN PURPURA:
- medication for symptomatic management?
- investigations to repeat to screen for complications? 2
- how long does it normally take to resolve?
- recurrence rate?
simple analgesia for arthritis
- can use nsaids only if no kidney involvement
repeat for a few weeks at home to screen for renal complications:
- dipstick for blood + protein
- BP
self-limiting, normally resolves in 1-3 weeks
around 1/3rds of patients relapse
78
LEUKAEMIA:
- commonest type in children?
- what cells are these?
- which age group normally affect?
- what genetic condition increases likelihood of getting it?
acute lymphoblastic leukaemia (ALL)
Malignant proliferation of pre-B or T-cell lymphoid precursors in the bone marrow
nb ALL accounts for 85% of all leukaemias in childhood and 25% of all cancers in childhood
peak incidence ages 2-5 years
- affects boys slightly more than girls
increased likelihood in pts with Downs
nb also get AML but rarer, is more common n adults
79
PRESENTATION OF LEUKAEMIA
- three groups of symptoms which logically follow on from the three cells affected by bone marrow failure?
- additional symptoms? 4
- what is the normal timescale for progression of symptoms?
thrombocytopenia -> BRUISING, PETECHIAE
anaemia -> LETHARGY, PALLOR
neutropenia -> frequent or severe INFECTIONS
OTHER SYMPTOMS
- bone pain (secondary to bone marrow infiltration)
^ may present as a limp
- hepatosplenomegaly
- lymphadenopathy
- fever
may also see testicular swelling in boys
nb can also get AML in kids but is rarer (the lymphadenopathy tends to be less prominent than in ALL)
80
What are poor prognostic features for ALL? 5
- age < 2 years or > 10 years
- WBC > 20 * 109/l at diagnosis
- T or B cell surface markers
- non-Caucasian
- male sex
81
LYMPHADENOPATHY:
- size and features of lymph nodes which make malignancy more likely?
- location of lymph nodes which make malignancy more likely?
- additional symptoms which make malignancy more likely?
MALIGNANCY UNLIKELY
- smooth, mobile, <2cm
- cervical or small inguinal
- well child (or signs of URTI / otitis media etc)
MALIGNANCY LIKELY
- hard, craggy, tethered, >2cm
- more widespread distribution
- bruising, pallor, fever, hepatosplenomegaly
82
LEUKAEMIA
- initial bloods if suspect? 2
- key investigation? 1
- FBC
- LFTs
bone marrow biopsy
83
MANAGEMENT OF ALL:
- mainstay of management? for how long?
- additional prophylactic treatment?
- overall survival rates?
chemotherapy (to remove blast cells from circulation
- then intermittent cycles of chemo for 2 years
intrathecal methotrexate +/- cranial irradiation to prevent spread to CNS
nb may also need steroids
80% at 5 years (rare to relapse after that)
84
MANAGEMENT OF AML:
- mainstay of management?
- management option that may be needed?
- overall survival rates?
intensive myeloablative chemo
relapse is common
bone marrow transplant offers best chance of cure
overall survival is about 60%
85
LYMPHOMA
- two main types of lymphoma in children?
- what age does each affect?
HODGKIN'S
= young adults
NON-HODGKINS
= 7-10years
nb also get both of these in elderly as well
86
HODGKIN'S LYMPHOMA
- what infection do pts commonly have before getting this?
- what cells are seen on histology?
- what is the presenting complaint for majority of patients?
- what symptoms might 25% of patients also have? 3
- what increases severity of symptoms?
- how is this presentation different to non-hodgkin's lymphoma?
Pts commonly have previous EBV infection
Reed-Sternberg cells in reactive lymph node
MAIN PRESENTATION:
- Progressive, painless lymph node enlargement – norm cervical and mediastinal
```
B-SYMPTOMS (get in 25%)
- weight loss
- night sweats
- fever
- (pruritis)
nb presence of B symptoms at presentation is a poor prognostic sign (but prognosis for HL is very good so is all relative)
```
may get pain in lymph nodes when drink alcohol in hodgkins
NON-HODGKINS:
symptoms are similar, although B symptoms occur later in disease
- in addition, more likely to present with extranodal disease:
- gastric (dyspepsia, dysphagia, abdo pain)
- bone marrow (pancytopenia, bone pain)
- lungs
- skin
- CNS (nerve palsies)
87
HODGKINS LYMPHOMA
- test needed to diagnose?
- imaging commonly used to assess spread? 3
- other test to assess spread? 1
- what staging system used?
lymph node biopsy to diagnose
FURTHER TESTS TO ASSESS SPREAD:
- bone marrow biopsy
- chest x-ray
- CT scan (neck, chest, abdo, pelvis)
- PET scan
ANN ARBOR STAGING
- I = single lymph node region
- II = two or more regions on same side of the diaphragm
- III = involvement of lymph node regions on both sides of the diaphragm
- IV = involvement of extra-nodal sites
^then add A if no B symptoms present and B if B symptoms present
nb LDH is often done too as is a good prognostic marker
88
HODGKINS LYMPHOMA:
- mainstay of management? 2
- prognosis?
- poor prognostic factors? 3
- chemo
- radiotherapy to affected areas of nodes
stage I disease is associated with 85% survival at 5 years
POOR PROGNOSTIC FACTORS:
- advancing age
- male sex
- stage IV disease
89
NON-HODGKIN'S LYMPHOMA
- initial investigation to diagnose?
- additional investigations to consider? (3 non-imaging, 2 imaging)
- staging system used?
- Management?
- survival rates in children?
lymph node biopsy to diagnose
OTHER INVESTIGATIONS TO CONSIDER (to assess spread)
- bone marrow biopsy
- LP
- pleural + peritoneal fluid
- CT scan
- PET scan
also do basic bloods
ANN ARBOR STAGING
- I = single lymph node region
- II = two or more regions on same side of the diaphragm
- III = involvement of lymph node regions on both sides of the diaphragm
- IV = involvement of extra-nodal sites
^then add A if no B symptoms present and B if B symptoms present
nb LDH is often done too as is a good prognostic marker
MANAGEMENT
- normally intensive chemo, but depends on the subtype
70% of children will have prolonged remission (nb worse prognosis in adults)
90
SICKLE CELL ANAEMIA:
- pathophysiology? (incl how it causes crisis)
- genetics?
- how normally picked up in the UK?
- what age does it tend to present if not picked up?
Sickle haemoglobin, it sickles at low oxygen concentrations -> increased viscosity of blood, reducing flow through small vessels -> tissue infarction
sickle RBCs are destroyed early = haemolytic anaemia
hyposplenic (dt repeat infarction) -> increased risk of infection (esp in infants)
autosomal recessive condition
- trait is prtective against malaria
most common in afro-carribean ethnicity
screened for in newborn blood spot at 5-9 days old
presents age 3months - 6 years if not picked up
- ie when foetal hb switches over to adult (sickled) hb
91
SICKLE CELL DISEASE:
- clinical sign seen in infants?
- infection very susceptible to in infancy?
- types of organism susceptible to infection from in childhood?
- investigation used to diagnose?
dactylitis (sausage fingers)
first 3 years of life = increased risk of pneumococcal sepsis
infections from encapsulated organisms and parvovirus
definitive diagnosis of sickle cell disease is by haemoglobin electrophoresis
92
SICKLE CELL DISEASE:
| - describe the 5 different types of sickle cell crisis and how they present
THROMBOTIC (painful)
- aka painful crises or vaso-occlusive crises
- precipitated by infection, dehydration, deoxygenation
- infarcts occur in various organs including the bones (e.g. avascular necrosis of hip, hand-foot syndrome in children, lungs, spleen and brain
(stroke is a big cause of death)
SEQUESTRATION
- sickling within organs such as the spleen or lungs causes pooling of blood with worsening of the anaemia
ACUTE CHEST SYNDROME
- dyspnoea, chest pain, pulmonary infiltrates, low pO2
- most common cause of death after childhood
APLASTIC CRISIS
- caused by infection with parvovirus
- sudden fall in haemoglobin
HAEMOLYTIC
- rare
- fall in haemoglobin due an increased rate of haemolysis
boys can get priapism as a form of painful crisis
93
SICKLE CELL CRISIS:
- bloods need? 6
- imaging to consider? 1
- FOUR key points of management for all crises?
- two other acute management to consider?
- FBC
- U+E
- LFT
- blood culture
- CRP
- Group + save
- consider CXR if chest symptoms
FOR ALL CRISES ("a who)
1) Analgesia
2) Warmth
3) Hydration (give 150% normal maintenance)
4) Oxygen
antibiotics if suspect infection
Blood transfusion for aplastic crisis, sequestration, anaemia.
94
LONG-TERM MANAGEMENT OF SICKLE CELL DISEASE:
- lifestyle advice? 3
- prophylactic things against infection? 2
- medication for prevention of vaso-occlusive crisis? 2
- management option if bad? 1
AVOID PRECIPITATING FACTORS:
- dehydration
- cold
- hypoxia
- lifetime oral penicillin V prophylaxis
- vaccination to pneumococcal
- hydroxycarbamide (chemo drug) to prevent vaso-oclussive crisis
- daily oral folic acid (as chemo drug reduces this)
can have bone marrow transplant
95
Causes of acute cough in children? 6
also describe character of cough in each
URTI
- throaty
BRONCHIOLITIS
- unpleasant with 'wet' sound
PNEUMONIA
- productive of phlegm (but kids normally swallow this)
CROUP
- barking
PERTUSSIS
- paroxysms of coughing, ending with inspiratory 'whoop', persists many days (nb mild cases may not have the 'whoop')
ASTHMA
- worse at night
96
CHRONIC COUGH IN CHILDREN:
- common causes? 6 (2 infective, 2 atopic, 2 other)
- uncommon causes? 6 (2 other, 2 infective, 2 immune-related)
COMMON
- post-infective
- run of recurrent URTIs
- postnasal drip
- asthma (exercise, night)
- cigarette smoke
- habit (psychogenic)
UNCOMMON
- foreign body
- GORD
- pertussis
- TB
- cystic fibrosis
- immune deficiency
97
INHALED FOREIGN BODY:
- acute presentation?
- what proportion only present after a few days? (what do these present with?)
- when should you always ask about posibility of foreign body inhalation? 2
ACUTELY
- 'croupy' cough + splutter
- choking noises
- stridor
- dyspnea
1/3rd present after a few days when infection, collapse or obstructive emphysema present
- so suspect in any child (esp toddler) with new resp symptoms
ASK ABOUT FOREIGN BODY INHALATION:
1) persistent cough
2) chest infection not resolving
98
INHALED FOREIGN BODY:
- which lung lobe does it normally lodge in?
- first line investigation?
- definitive investigation and management?
lodge in bronchus in:
- right middle or lower lobe
do CXR
- may demonstrate if radio-opaque object
- or may just show associated changes
DIRECT LARYNGOSCOPY + BRONCHOSCOPY
- diagnostic and can remove object at same time
99
GLUE EAR:
- technical name?
- what is it?
- age commonly affected?
- children who are more commonly affected? 3
otitis media with effusion
middle ear fills with fluid instead of air
- can occur insidiously or following acute otitis media
any age can be affected but norm toddlers
more commonly affected:
- down's
- cleft palate
- atopy
100
GLUE EAR:
- main symptom?
- additional possible symptom in young children?
- additional possible symptoms in older children? 2
HEARING LOSS
- kids may speak louder than normal, ask people to repeat what they say or appear to not be listening
- this is CONDUCTIVE hearing loss
YOUNG
- speech delay
OLDER
- feeling of fullness in ear
- tinnitus
101
GLUE EAR:
- first line investigation?
- additional medication that may be needed?
- when is it treated? (4) what treated with?
otoscopy (GP can do)
- drum is dull and retracted in glue ear
give abx if sign of infection
TREAT IF:
- no improvement after 3 months (most are self-limiting)
- symptoms are affecting their learning and development
- already have severe hearing loss before glue ear
- have down's or cleft palate, as glue ear less likely to resolve by itself
GROMMETS
- small temporary tubes placed in ear drum
- will fall out within 6-12 months
(can also 'pop ears' to help clear - ie autoinflation - but not recommended in under 3s)
can also give temporary hearing aids
102
ACUTE OTITIS MEDIA:
- presentation in infants?
- chief presenting complaint in older kids?
- key DDx?
INFANTS
- high fever
- rolling heads from side to side
- rubbing ears
OLDER KIDS
- ear ache
A mildly pink dull drum may be present in any URTI
103
ACUTE OTITIS MEDIA:
- first line investigation? (and finding)
- management for all?
- when should antibiotics be given? 4
- how to prevent future episodes? 3
OTOSCOPY
- mild inflammation of pars flaccida with dilated vessels running down the handle of the malleus, and an an absent light reflex
- can progress to a red, bulging, painful tympanic membrane, perforation and pus discharge
SIMPLE ANALGESIA for all
GIVE ABX:
- child is very unwell
- immunosuppression
- premature
- symptoms for >4 days
PREVENTION
- avoid passive smoking
- don't use dummies
- don't feed supine
104
ACUTE OTITIS MEDIA:
| - possible complications? 4 (and symptoms of these)
MASTOIDITIS:
- systemically unwell
- swelling, erythema + tenderness over mastoid process
- external ear may protrude forward
CEREBRAL ABSCESS:
- signs of raised ICP
- systemic infection
LATERAL SINUS THROMBOSIS
- rare
MENINGITIS
- see other flashcard
105
DDx SHORT OF BREATH:
- common resp causes? 4
- cardiovascular causes? 2
- other causes? 4
RESP
- asthma
- foreign body inhalation
- bronchiolitis
- pneumonia
(also tracheomalacia, pulm hypoplasia, neuromuscular probs)
CARDIOASCULAR
- congenital heart disease
- anaemia
OTHER
- sepsis
- DKA (and other acidosis)
- anxiety
- medications
106
What signs should you look for if child is short of breath? 3
- additional signs in infants? 3
LOOK FOR SIGNS OF RESP DISTRESS
- inter/subcostal indrawing
- tracheal tug
- accessory muscle use (arms and shoulders, incls tripoding)
INFANTS
- head bobbing
- expiratory grunting
- nasal flaring
107
CONGENITAL STRIDOR:
- what is it? what is most common cause?
- what age does it present?
- prognosis?
- when to investigate further? 3
any congenital abnormalities of the pharynx, larynx or trachea (may be audible from birth)
most common = CONGENITAL LARYNGEAL STRIDOR (aka laryngomalacia)
- dt floppy aryepiglottic folds
- does not cause obstruction + gradually disappears as laryngeal cartilage becomes firmer during first year of life
nb laryngomalacia often presents with stridor at about 4 weeks
do laryngoscopy if:
- intercostal + suprasternal recession
- feeding problems
- no sign of improvement in first few weeks
108
Main DDx for acute stridor in children? 3
how to differentiate between?
what should you NOT do if acute stridor with resp distress?
ACUTE LARYNGOTRACHEITIS
- (aka croup)
- also have barking cough
- coryzal symptoms
- 6months - 3 years
- louder stridor
FOREIGN BODY IN LARYNX
- hx of inhalation
- coughing
- choking
- vomiting
- no signs of infection (eg fever)
EPIGLOTITIS
- likely have drooling too
- child sits upright and doesn't move
- unwell looking
- softer stridor
- 2-6 years
DON'T EXAMINE THROAT (unless intubating)
109
ACUTE ABDO PAIN in children:
- three most common causes? (nb all GI)
- other GI causes? 5
- urinary system? 2
- other important? 3
- other important in teenagers? 4
MOST COMMON
- constipation
- mesenteric adenitis
- gastroenteritis
OTHER GI
- appendicitis
- intusssuception
- bowel obstruction (incl volvulus in neonates, also meckels)
- peptic ulcer (pain at night, relief with milk)
- inflammatory bowel disease
(also cholecystitis + pancreatitis are rare but can happen)
URINARY
- pyelonephritis / UTI
- henoch schonlein purpura
```
OTHER
- lower-lobe pneumonia
- DKA
- anxiety / stress / migraine
(- sickle cell)
```
TEENS
- ectopic pregnancy
- ovarian cyst
- pelvic inflam disease
- ovarian / testicular torsion
nb could also be an acute presentation of a chronic problem - always ask if had before!
110
Qs to ask about acute abdo pain? 8
red flags to ask about? 5
associated symptoms to ask about:
- GI? 4
- urinary? 4
- other local? 3
- systemic? 7
what should you never forget to check in / simple test for:
- anyone with abdo pain?
- any teenage girl w abdo pain?
SOCRATES!
- site
- onset (incl any viral illness before!)
- character
- radiation (incl to testes)
- associated symptoms
- timing (does it wake from sleep)
- exacerbating / relieving factors
- severity
RED FLAGS
- bilious vomiting
- blood in stool or vomit
- pain waking up child at night
- haemodynamic instability / shock
- peritonitis / guarding
GI
- nausea
- vomiting (blood? green?)
- diarrhoea / constipation (ask re freq + consistency)
- blood in stools
URINARY
- pain on urination
- new nocturnal enuresis (DM, UTI)
- blood in urine
- polyuria (also polydipsia)
OTHER
- girls: periods started? painful? heavy?
- vaginal / penile discharge (think STI)
- resp symptoms (incl SOB, cough)
- joint pain / swelling (HSP, IBD))
SYSTEMIC - AW FS FIN
- appetite loss (or gain if DM)
- weight loss
- fatigue
- sleep
- fever
- itch (incl jaundice, RASH, skin probs)
- night sweats
ANY CHILD = check glucose
ANY TEENAGE GIRL = pregnancy test
111
CHRONIC/RECURRENT ABDO PAIN IN CHILDREN:
- non-organic causes? 4
- organic GI causes? 4
- other relatively common causes? 2
- rare causes? 18 (5 GI, 3 gynae, 2 urinary, 3 neuro, 5 other)
(don't worry if don't get all of these rare causes)
- RECURRENT ABDO PAIN OF CHILDHOOD
- Irritable bowel syndrome
- non-ulcer dyspepsia
- abdominal migraine
- constipation
- GORD / oesophagitis
- IBD
- coeliac disease
- recurrent UTIs (could be dt anatomical problem or ureteric reflux)
- dysmenorrhoea / endometriosis
RARE
- eosinophilic oesophagitis
- h. pylori infection / peptic ulcer disease
- hiatal hernia
- pancreatitis
- giardiasis
- mittelschmertz
- ovarian cyst
- pelvic inflammatory disease
- ureteropelvic junction obstruction
- kidney stones
- nerve entrapment
- spinal tumour
- transverse myelitis
- porphyria
- familial meditierranean fever
- lead posioning
- lymphoma
- sickle cell disease
112
FUNCTIONAL RECURRENT ABDO PAIN OF CHILDHOOD:
- definition?
- what % of recurrent abdo pain in childhood is functional?
RAP in children is defined as abdominal pain which occurs at least four times a month over a period of two months or more, which is severe enough to limit a child's activities and which, after appropriate evaluation, cannot be attributed to another medical condition
- nb childhood IBS is a subtype (pain is associated with change in bowel habits and pain relieved by defecation)
about 90% of recurrent abdo pain is functional (ie an organic cause can only be found 10% of the time)
113
FUNCTIONAL RECURRENT ABDO PAIN OF CHILDHOOD:
- if you think a child has functional RAP, what 4 things should you always do to rule out organic causes?
- what features of SOCRATES make an organic cause more likely vs what are the typical features of functional RAP?
- take a full hx
- examine
- plot growth on chart
- urine dipstick
(can also consider doing some bloods - eg FBC, ESR)
SITE
- Functional = CENTRAL
- Organic = not central, more localised
ONSET
- F = erratic pattern
- O = related to food
CHARACTER
- varies with both
RADIATION
- F = NO radiation
- O = may be radiation
ASSOCIATED SYMPTOMS
- F = often get nausea, may be quiet and pale w pain
- O = vomiting/diarrhoea, generalised illness, dysuria, daytime enuresis, growth failure
TIMING
- F = does not wake at night
- O = can wake at night
EXACERBATING/ RELIEVEING
- F = maybe stress
- O = maybe food
SEVERITY
- F = can be severe
- O = can be severe
114
What red flags should you always ask about for recurrent / chronic abdo pain to see if organic? 11
- red flag signs on exam? 3
RED FLAGS ON HX
- pain that is not-central
- wake child at night?
- any GROWTH FAILURE/weight loss?
- diarrhoea or vomiting?
- any GI blood loss?
- dysuria?
- secondary nocturnal enuresis
- unexplained fever
- joint inflammation
- skin rashes
- FHx of IBD
RED FLAGS ON EXAM
- any perianal or oral lesions
- palpable mass
- jaundice
115
APPENDICITIS:
- which age group is unlikely to get it?
- classical triad of symptoms?
- other presentations which may occur in children?
- what conditions is it often misdiagnosed as?
- 1st imaging to do?
- investigation to help rule out other causes?
Rare in children under 2 (if do get, often present with perforation)
1) central abdo pain which moves to RIF
2) low grade fever
3) minimal vomiting
under 2: vomiting and abdo distension
older children may have diarrhoea and constipation
children with abdo pain caused by appendicitis often walk bent in the middle or curl up in a ball - movement aggravates the pain
pts often have anorexia too
symptoms can be similar to gastroenteritis or food poisoning (important to ask about sick contacts to help rule these out)
- but also UTI, dysmenorrhoea, HSP, mesenteric adenitis etc
ALWAYS CONSIDER APPENDICITIS IN ANY CHILD W ACUTE ABDO PAIN!
Do USS (or CT) if not sure!
do urine dipstick to exclude infection + pregnancy in teenage girls!
116
Three key signs of a child who is suffering from some sort of malabsorption?
potential causes? 4
1) poor growth
2) abnormal stools
3) nutrient deficiency
potential causes:
- coeliac
- CF
- worms
- IBD
117
1st line investigations for malabsorption:
- things to assess? 2
- sample to send? 1
- tests for specific conditions? 2
- assess diet
- assess growth
send stool sample for fat content and culture
- sweat test
- coeliac disease antibodies
118
COELIAC DISEASE
- classical signs/symptoms? 5
- What do most pts present with now? 3
CLASSICALLY:
- anaemia (pale)
- miserable, poor appetite
- abdo distension
- muscle wasting
- fatty diarrhoea + vomiting
NOW PEOPLE PRESENT WITH one or all of:
1) variety of GI symptoms
2) variable growth failure
3) iron-deficient anaemia
CAN PRESENT AT ANY AGE!!! - very non-specific, have in back of head!
- BUT most present before 3 years
nb won't present before child weans as obviously no wheat in the diet yet
119
COELIAC DISEASE:
- main two DDx? how to rule out?
- 1st line investigation?
- investigation to confirm diagnosis?
RULE OUT:
- cystic fibrosis (sweat test)
- giardia lamblia infection (stool culture)
1st line = ANTI-TISSUE TRANSGLUTAMINASE (coeliac disease antibodies)
need jejunal biopsy to confirm diagnosis
120
COELIAC DISEASE:
- management? 2
- who to consider referral to?
- long-term complication if not managed?
- gluten-free diet
- replace any deficient fat-soluable vitamins
consider referral to dietician
bowel lymphoma is a long-term complication
121
EARLY FEEDING PROBLEMS:
- what should you always monitor?
- what symptoms/signs may they also present with?
- most difficulties with feeding arise from one or more of which three factors?
- who to refer to?
GROWTH CHART
- weigh and measure accurately
MAY PRESENT WITH:
- vomiting
- disturbed bowel habit
- unsatisfactory weight gain
- crying
1) QUANTITY of food
- both under and over-feeding may lead to vomiting and crying
- bottle fed babies are often over fed
- CHECK how parents are making up the formula
2) KIND of food
- early mixed feeding may lead to vomiting, diarrhoea + crying
- introduce solids slowly and gradually
3) feeding TECHNIQUE
- watch how baby is bottle or breast fed, may be in wrong position, teet too small or large
REFER TO DIETITICIAN!
122
Advantages of breastfeeding:
- to baby? 7
- to mum? 6
BABY:
- bonding
- best composition (consistent quality + quantity)
- less collick and reflux
- antibodies, reduce risk of infections
- reduced risk of atopy + allergies
- reduced risk of future obesity/DM/heart disease
- better neurodevelopment (compared to formula-fed kids)
MOTHER:
- bonding
- sense of achievement
- convenience
- free
- burns about 500 calories a day
- reduces risk of breast cancer
123
Describe successful breast feeding (ie if you're describing how to do it to mother)
Successful breast feeding
- About 20-40mins of feeding
- Feed fully from one breast before offering other
- Don’t switch too must (get the watery foremilk first then calorific hindmilk later)
1) Whey = thirst quenching
2) Casein = calories/protein
But do switch from one to other between feeds or higher chance of mastitis
- On demand
- Cluster feeding
nb hard to overfeed a breast fed infant
124
Describe successful bottle feeding (ie if you're describing how to do it to mother)
- ie how much to feed and how often
Successful bottle feeding
- Demand or by the clock
- First 6 wks expect to feed every 3-4 hours (incl night feeding)
Standard infant formula
- Approx 150ml/kg/day to meet requirements for growth
Avoid over overfeeding (vomiting)
Babies stomach is size of an egg so can’t take big feeds
125
What website can you direct parents to for information about breast and bottle feeding and nutrition up to 5 years?
first steps nutrition
126
What are the four types of specialist infant formula? (excluding thickened formula for reflux)
HIGH ENERGY (eg SMA high energy)
- For use in faltering growth / increased energy requirements
- Requirements met in lower volume
- Not for use in IUGR
PRETERM FORMULA
- For infants born <37 wks
- Increased protein and micronutrients required by preterm infants
- Not for faltering growth as not high energy formula
EXTENSIVELY HYDROLYSED (eg similac alimentum)
- Extensively hydrolysed proteins for treatment of CMPA and gut disorders / malabsorption
- Some contain lactose / MCT fats
- Taste vs age
AMINO ACID (eg alfamino)
- Broken down into amino acids
- For severe allergy and gut disorders / malabsorption
- MCT fat content
nb probs don't need to know this much detail but just be aware
127
WEANING:
- when should you wean?
- how should you wean?
- what 4 types of food should you avoid under a year?
Ideally 6 months but definitely not before 4 months
- Start with puree (slightly thicker than milk)
- Needs to be quite a consistent texture
- Baby rice, puree fruit and veg, baby porridge
Normal food by 1 year
FOODS TO AVOID BY:
- No honey
- No soft cheeses
- No whole nuts, but can chop it up then fine (just a choking risk)
- No added salt and sugar
(even after a year, avoid added salt and sugar)
Nb don’t avoid egg or peanuts!
Make meal times fun
- Let them be messy, don’t constantly wipe hands etc
- Be relaxed - or they’ll become fussy
128
INFANTILE COLIC
- definition? (and how it normally presents)
- what age does it tend to present at?
- mainstay of management? 2
periods of crying that last for more than 3 hours for more than 3 days a week
- abdo pain
- tends to be worse at night (norm between 6-10pm
usually occurs between 4-12 weeks
- resolves around 12-16wks
nb worse in bottle fed than breast fed babies
NO OTHER SYMPTOMS!
MANAGEMENT
- reassurance
- monitor growth (as long as this is fine, no need to worry)
lots of treatment but little evidence for anything
- wind baby well
- can try things: change bottle, colic drops, change formula
tends to be that parents find a 'management' thing that works for them then it works
129
SUGGEST SOLUTIONS FOR THIS FEEDING PROBLEM:
| 1) child easily distracted by TV or runs around room at meal times
Turn off TV: mealtime must be the focus and ideally family members all eat together with child in high or other safe chair and table
130
SUGGEST SOLUTIONS FOR THIS FEEDING PROBLEM:
| 2) Children change their mind about what they eat
either make only one meal for all the family, or offer child a choice of two things and, if appropriate, allow child to help in preperation
131
SUGGEST SOLUTIONS FOR THIS FEEDING PROBLEM:
| 3) child very slow eater or picks at food
If weight satisfactory, reassure parent that child won't starve
don't hurry child or force feed
present food for an agreed fixed period of time and then remove it
132
SUGGEST SOLUTIONS FOR THIS FEEDING PROBLEM:
| 4) too much fluid, either milk almost entirely in place of food or excessive drinking of fruit juice or pop
gives drink and snacks after, not before, meals
133
INGUINAL HERNIA:
- two types?
- which more commonly affect children?
- which side more commonly affected?
- which infants at greater risk?
DIRECT
- affects adults
- "punches directly through the superficial inguinal ring"
INDIRECT
- affects infants / children
- due to patent PROCESSES VAGINALIS
- "indirectly goes through deep and then superficial inguinal rings"
- 8x more common in boys
- more likely to occur on RIGHT side (dt later descent of R testes)
- but can be bilateral
PRETERM infants at greater risk
134
INGUINAL HERNIA:
- How does it present?
- examination to confirm that it's a hernia and not something else?
- management? (incl WHEN to manage)
small or large swelling in groin or testicular sac
- appears / increases in size when child cries
- can be reduced when child is quiet
does NOT transilluminate
- a hydrocele would
UNDER 1 YEAR
- operate within days
- herniotomy
OVER 1 YEAR
- still operate but less urgency, can be done electively
nb paediatric hernias do not spontaneously resolve like adult ones do and have a high chance of complications
135
INTUSSUSCEPTION:
- what is it? (incl norm location in abdomen)
- age normally affected?
- what normally precedes it?
'telescoping of the bowel'
- invagination of one portion of the bowel, into the lumen of the immediately adjoining section
- normally around illeocaoecal region
ages 6 - 36 months
- less common under 3 months or over 3 years
normally preceded by a viral infection or change in diet -> hypertrophy of Peyer's patches
- or viral illness may be intercurrent
136
INTUSSUSCEPTION:
- describe the abdominal pain
- common associated symptoms? 2
- classic finding on examination?
- what is a poor prognostic sign on exam?
- as well as abdominal exam, what else should you examine for?
paroxysmal abdominal colic pain
- during paroxysm the infant characteristically draws their knees up and turns pale
- spasms occur about every 15 mins (become more frequent + severe)
- child screams and is very anxious on examination
- vomiting
- passing of blood/mucus in stool (redcurrant jelly - only in 25%)
(may have abdominal distension)
sausage shaped mass in RUQ (not always palpable)
poor prognosis: signs of peritonitis (ie guarding, tense woody abdomen)
- means perforated
look for signs of DEHYDRATION!
- eg high HR, long CRT, high RR
- kids with intussusception are often dehydrated and hypovolaemic
137
INTUSSUSCEPTION:
- 1st line investigation? (and classical finding on this)
- other investigation to consider?
- definitive management? (what determines the success of this)
- alternative management if 1st line is unsuccessful or signs of peritonitis?
- other management FOR ALL?
USSS
- 'target sign'
can do abdo X-ray for signs of obstruction
1st line = REDUCTION by AIR INSUFFLATION under radiological guidance (ie and air enema)
success of air enema is determined by speed at which done: if air enema is performed within 12 hours of start of symptoms then success in 90%
- diagnostic delay makes surgery more likely!
if reduction unsuccessful or signs of peritonitis, need surgery
GIVE FLUIDS
- 20ml/kg bolus if severely dehydrated
- maintenance fluids if mildly dehydrated (20ml/kg/day first 10kg, 50ml/kg/day second 10kg, 100ml/kg/day after that)
also potentially NG tube too - ie drip + suck
138
JAUNDICE IN CHILDREN:
- three broad causes of jaundice?
- three common causes in children? (nb this is not neonates)
PRE-HEPATIC
- normally haemolytic
HEPATIC
- eg in hepatitis (Hep A is common in children)
POST-HEPATIC
- norm obstructive (eg cholangitis)
COMMON IN CHILDREN:
- haemolytic (norm genetic probs)
- hepatitis (norm Hep A)
- obstructive - eg gall stones (in older children)
also can get jaundice in severe epstein barr virus infection
139
What other symptoms should you ask about if a child presents with jaundice?
Other key points in the history to ask about? 2
- abdo pain
- colour and consistency of stools (incl blood)
- urine colour (incl blood)
- vomiting (also nausea)
- fatigue
- any rash or bruises (blanching or non)
(also do a full systems review)
OTHER HISTORY
- any FHx of jaundice or any bleeding problems?
- travel history (eg malaria, Hep A)
(also sexual hx if teenager - think help B/C)
140
possible first line bloods for jaundice?
- FBC (anaemia)
- U+E (kidney func + dehydration)
- LFT
- clotting
- coombs test
- peripheral blood smear
141
DIRECT COOMBS TEST
- when do you do it?
- what does it test for?
- what main 3 conditions can it help diagnose?
what is an indirect coombs test?
do it when someone is ill or jaundice and you suspect a haemolytic anaemia
to look for antibodies that are attached to red blood cells
eg in:
- transfusion reaction
- haemolytic disease of newborn (rh or ABO)
- autoimmune haemolytic anaemia (incl SLE, mononucleosis etc)
if you have anaemia but a negative coombs test it means that the cause of your anaemia is something else (ie not due to antibodies against RBCs)
an indirect coombs test is of the plasma and looks for the antibodies (ie when not attached to RBCs)
- this is part of 'group + save' blood test, done to test if you will be able to receive blood (or if rh -ve mother etc)
142
MESENTERIC ADENITIS:
- what is it?
- what age affected?
inflammation of abdominal lymph nodes
children and teenagers
143
MESENTERIC ADENITIS
- main symptom?
- other possible symptoms?
- what often confused with? how to tell the difference?
- red flags? 3
- management?
```
ABDO PAIN (esp in RIF)
- can be severe
```
caused by a viral illness, often have:
- swollen lymph nodes in other areas
- red throat or ears
- fatigue / malaise
- vomiting / diarrhoea
- fever
often confused with appendicitis:
- in mesenteric adenitis, often have a viral illness beforehand whereas appendicitis often comes out of nowhere
- pain may also be more generalised in mesenteric adenitis
RED FLAGS
- blood in stool
- peritonitis (guarding, rebound tenderness)
- haemodynamically unstable
nb 1 in 5 children who go for laprascopy for appendicitis actually have mesenteric adenitis
MANAGEMENT:
- analgesia
- reassurance and safety-netting
nb intussusception can occur following mesenteric adenitis so make sure to safety net well!
if not sure if appendicitis, do USS
144
PYLORIC STENOSIS:
- symptoms / how do patients present? 5
- age of presentation?
- signs on examination? 5
- what is common DDx? (how to differentiate)
- main red flag to ask about?
- projectile vomiting AFTER feeds (nb is initially non-projectile)
- crying more than usual
- always hungry
- not opening bowels or seeing as much as usual
- child stops gaining weight and then starts to loose weight
present at 2-7 WEEKS
(never from birth)
EXAM:
- irritable
- weight loss
- dehydration (mucus membranes, CRT, HR, nappies, cool peripheries)
- hard non-tender mobile mass in epigastric area (olive-shaped - rarely feel)
- prominent peristaltic waves
common DDx = OVERFEEDING
- if child is growing normally (or gaining centiles) then more likely to be this!
RED FLAG = BILE-STAINED VOMIT
- points to a different aetiology (pyloric stenosis never produces bile-stains)
- always ask what vomit looks like!
nb more common in first born males and does seem to be some familial link
145
PYLORIC STENOSIS:
- clinical test if suspect diagnosis?
- what should you always measure?
- bloods to do? 2 (incl findings)
- imaging? 1
TEST FEED
- can see peristaltic waves in epigastrium
- then see projectile vomit
ALWAYS MEASURE GROWTH
- height and weight
- plot on chart
1) BLOOD GAS
2) U+Es
- hypokalaemia
- hypochloraemia
- alkalosis
(also dehydration)
USS
- large pylorus and narrowed canal
146
PYLORIC STENOSIS:
- initial management? 1
- definitive management? 1
1) HYDRATION
- to correct electrolytes and dehydration!
- norm also give NG tube to stop vomiting
2) PYLORIC MYOTOMY
- only when electrolytes and alkalosis normalised!
147
TESTICULAR TORSION:
- what happens?
- most common age?
spermatic cord becomes twisted, cutting off blood flow to the testes -> ischaemia + necrosis
most common in ages 10-30
- peak incidence 13-15 years
148
TESTICULAR TORSION:
- symptoms? 5
- main DDx? 3
- important questions to ask about in Hx? 1
- acute, severe unilateral testicular pain
- abdominal pain
- nausea + vomiting
- 'walk like woody from toy story'
- hurts to urinate
DDx
- epidymo-orchitis
- UTI
- idiopathic scrotal oedema
nb urine dipstick cannot rule out torsion
always ask SEXUAL HISTORY!!! (may be an STI causing nepidydymo-orchitis)
149
TESTICULAR TORSION:
- characteristic findings on examination?
- two clinical tests to do?
- imaging that can do if unsure of diagnosis?
- management?
"BELL-CLAPPER" deformity
- plus lots of erythema and scrotal swelling
- cremesteric reflex is LOST
- elevation of testis does NOT ease the pain (Prehn's sign)
can do USS doppler to measure blood flow to testes
- but don't delay surgery for this!!!
URGENT surgical exploration and fixation of BOTH testes! (even if only one affected
- need to do within 6 hours to salvage testes!
150
UNDESCENDED TESTES:
- also known as?
- what proportion of male infants have it?
- what increases your chance?
- what proportion are bilateral?
- potential complications? 4
aka cryptorchidism
2-3% of term male infants
- much more common if preterm
25% are bilateral
COMPLICATIONS
- infertility
- torsion
- testicular cancer
- psychological
151
UNDESCENDED TESTES:
- key DDx? (how to differentiate?)
- red flags? 2 (what to do if find)
- management? when to operate?
key DDx is retractile testes
- very common and normal
- an active cremaster muscle withdraws the testes into the inguinal canal or higher, esp if examined with cold hands
RED FLAGS
- testes cannot be palpated in inguinal canal
- bilateral undescended testes
REFER URGENTLY to senior paediatrician, may need imaging + urgent endocrine or genetic investigation
if no concerning features, REFER TO SURGEON at 3 months of age (many will have fully descended before then)
- ideally want to see a surgeon by 6 months and have surgery (OCRHIDOPEXY) at around a year old!
152
AMBIGUOUS GENITALIA:
- most common cause?
- other causes? 2
CONGENITAL ADRENAL HYPERPLASIA
- only in females (male genitalia is normal)
other causes:
- intersex
- maternal ingestion of androgen
(loads of rarer conditions too)
153
AMBIGUOUS GENITALIA
- initial management?
- who to refer to? 2
- initial investigations to do?
do NOT assign sex of baby if unsure!!
- causes distress if incorrectly assigned and may misdiagnose CAH
refer to:
- paeds endocrinologist
- genetics
INITIAL INVESTIGATIONS:
- steroid hormone levels
- karyotyping
- USS
154
CONGENITAL ADRENAL HYPERPLASIA:
- what is it / what is pathophysiology?
- two common presentations? (incl age at presentation)
gene mutation (autosomal recessive) leading to a block in the production of hydrocortisone -> increased pituitary ACTH (to try and stimulate cortisol production) -> adrenal cortical hypertrophy -> increase in androgens (but still no/little hydrocortisone, though loads of androgenic cortisol precursors produced)
1) AMBIGUOUS GENITALIA (in girls)
- enlarged clitoris
- labia fusion
this is aka virilisation
2) 60-70% have a SALT-LOSING CRISIS
- norm 1-3 weeks of age
- vomiting and markedly dehydrated
- some are severely ill (fatal if untreated)
nb can also rarely present as precocious puberty in boys if no salt crisis occurs
nb there is a very rare subtype which can cause males to be intersex, but normally they have normal genetalia
think of a salt crisis like addisons crisis - not exactly the same but helpful to think about it
155
CONGENITAL ADRENAL HYPERPLASIA:
- key DDx? 1
- bloods? 2 (incl findings)
- management? 2
DDx for salt-loss crisis is neonatal sepsis!!
- look at temp and signs of infection!!
- elevated level of cortisone precursors (17-hydroxyprogesterone)
if salt-loss crisis:
- LOW sodium
- HIGH potassium
ie do U+Es
MANAGEMENT:
- lifelong hormone replacement therapy (increase dose when ill or stressed)
- girls may require genital plastic surgery
156
When assigning a gender to a child who has ambiguous genetalia, what factors must be taken into account? 5
- chromosomal sex
- gonadal sex
- surgical aspects
- psychosexual development / adult sexual function
- fertility issues
NEED AN MDT DECISION WITH FMAILY INVOLVED
157
ANDROGEN INSENSITIVITY SYNDROME:
- old term?
- genetics?
- pathophysiology?
- two common presentations?
- diagnosis?
- management? 3
Complete androgen insensitivity syndrome is the new term for testicular feminisation syndrome
- nb you can have partial/mild androgen insensitivity syndrome (can present with male genetalia but then adolescent gynaecomastia or infertility later in life)
X-linked recessive condition due to end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype
- is an abnormality in the androgen receptor
1) bilateral inguinal / labial swellings in a 'female' infant
2) primary amenorrhoea in adolescence (develop normal secondary sex characteristics though)
karyotype reveals 46XY chromosome with a female phenotype
MANAGEMENT:
- counselling (raise child as female, will be infertile)
- bilateral orchidectomy (increased risk of testicular cancer)
- oestrogen therapy (if needed)
158
TURNER SYNDROME:
- genetics?
- common feature at birth?
- most serious congenital abnormalities to rule out? 2
- morphological features? 4
- other common associated abnormalities / conditions? 3
45 X
lymphedema in neonates (especially feet)
- other characteristics develop later
CARDIAC DEFECTS:
- bicuspid aortic valve (15%)
- coarctation of aorta (5-10%)
- webbed neck
- shield chest, widely spaced nipples
- short stature
- no secondary sex characteristics (are infertile!)
(nb also have high arch palate)
- horseshoe kidney
- recurrent otitis media
- autoimmune conditions (esp autoimmune thyroiditis + crohns) - screen for these regularly!
nb breast development and periods can be induced using hormone therapy
most don't grow above 1.5m (although GH therapy can sometimes increase height a bit)
nb have normal intelligence
159
KLINEFELTER SYNDROME:
- karyotype?
- features? 4
47 XXY
- often taller than average
- lack of secondary sex characteristics (normally infertile)
- small, firm testes
- gynaecomastia (increased incidence of breast cancer)
nb normally slightly lower than average intelligence
160
What staging system is used to 'stage' puberty?
- what are the stages and characteristics for each stage for boys and girls?
- what are the first signs of puberty for girls? for boys?
TANNER STAGING
GIRLS:
Tanner stage 1 (ie pre-pubertal)
- No sign of pubertal development
Tanner stage 2-3
- Breast enlargement (1st sign)
- Pubic or axillary hair
- Growth spurt
Tanner stage 4-5
- Started periods (menarche)
- Signs of pubertal development
BOYS
Tanner stage 1 (ie pre-pubertal)
- High voice
- No signs of pubertal development
Tanner stage 2-3
- Testicular / penis enlargement (1st sign)
- Deepening of voice
- Early pubic / axillary hair
Tanner stage 4-5
- Voice broken
- Facial hair
- Growth spurt
- Adult size penis, pubic + axillary hair
161
PRECOCIOUS PUBERTY:
- definition?
- incl age for boys? for girls?
- which sex most concerning in?
- what must always consider in management?
onset of secondary sexual characteristics
- before age 8 in girls
- before age 9 in boys
In girls this is less concerning
- Is normally ‘true’ precocious puberty
In boys it is more concerning as more likely to be an underlying pathology
- also a lot more rare than in females
always consider + address psychological + behavioural effect of this!! - has big effect on child's life
162
What are the two broad types of precocious puberty?
describe pathophysiology of each
- also FSH + LH levels
GONADOTROPHIN DEPENDENT (aka central or true)
= early activation of hypothalamic-pituatory-gonadal axis
= high FSH + LH
- normal sequence of pubertal development observed
- may be idiopathic + familial (esp in females)
- boys more likely to be due to intracranial tumours etc
GONADOTROPHIN INDEPENDENT (aka peripheral or false)
= excess of sex hormone (either endogenous or exogenous)
= low FSH + LH
- more likely to be abnormal sequence of pubertal development observed
163
PRECOCIOUS PUBERTY:
- examination to always do? (in addition to genital)
- blood tests?
- other possible investigations?
do a full near exam to look for any focal signs
BLOODS
- estradiol / testosterone
- pituitary function test
- TFTs
- bone age (x-ray hand + wrist of non-dominant hand) - do to see if correct bone age for age of child, if not is more concerning
- scan pelvis and adrenals
- MRI head
164
PRECOCIOUS PUBERTY:
- what can provide a clue as to cause in boys? (in addition to FSH/LH levels)
- some causes in boys?
- most common cause in girls?
- some causes in both sexes?
TESTICULAR SIZE can provide a clue (in addition to FSH/LH levels)
bilateral enlargement
= gonadotrophin release from intracranial lesion
unilateral enlargement
= testicular tumour
small testes
= adrenal cause (tumour or congenital adrenal hyperplasia)
GIRLS
- norm idiopathic or familial
CAUSES FOR BOTH
- intracranial tumours
- hydrocephalus
- encephalitis or meningitis
always look for near symptoms!
nb don't worry about this too much - main points to remember is age of definition of precocious puberty and general causes for male and female - don't need to know this much detail
165
what are the technical terms for:
- first stage of breast development?
- first stage of pubic hair development?
thelarche (the first stage of breast development)
adrenarche (the first stage of pubic hair development)
nb isolated thelarche in girls is common and commonly resolves and then have normal puberty
nb gynaecomastia in adolescent boys is almost always physiological + self-limiting
- still embarrassing for the boy
166
DELAYED PUBERTY:
| - definition in boys and girls? (ie age)
lack of initiation and progress of pubertal development
- more than 2 standard deviations than average onset of puberty of the population
GIRLS:
- no signs of puberty, ie no breast development (ie still tanner stage 1) by age 13
OR
- no menarche by age 15
BOYS:
- no signs of puberty, ie no testicular enlargement (ie still tanner stage 1) by age 15
167
DELAYED PUBERTY:
- two broad groups of causes? (give examples)
- most common cause?
- what always really important to ask about in Hx?
- what to exclude in girls?
CENTRAL (low LH/FSH)
- constitutional delay
- chronic disease (eg CF)
- poor nutrition
- pituitary problem
PERIPHERAL (high LH/FSH)
- testicular / ovarian damage or underdevelopment
Most common cause is constitutional delay (esp in boys)
- This is more common if FHx of delayed puberty
ALWAYS ASK WHAT AGE PARENTS HAD MENARCHE ETC
exclude TURNERS in girls
- will also have short stature
Delayed puberty with short stature
- Turner's syndrome
- Prader-Willi syndrome
- Noonan's syndrome
Delayed puberty with normal stature
- polycystic ovarian syndrome
- androgen insensitivity syndrome
- Kallman's syndrome
- Klinefelter's syndrome
168
DELAYED PUBERTY:
- blood tests to do? 6
- other tests? 2
- other test to consider?
BLOODS
- FBC
- U+Es
- TFTs
- coeliac screen
- FSH/LH
- testosterone / estradiol
KARYOTYPE (exclude turners/klinefelters)
```
Bone age (x-ray of hand + wrist of non-dominant hand)
- if constitutional delay then bone age will ALSO be delayed!
```
consider imaging: MRI, pelvic ultrasound
169
DELAYED PUBERTY:
- typical features of constitutional delay?
- management?
CONSTITUTIONAL DELAY
- Long-standing short stature during childhood
- Poor growth most noticeable 9-11yrs
- Slow progression through puberty
- Bone age delay
- Exclude organic cause eg coeliac / thyroid screen
reassurance, moral support and patience
- also ensure good nutrition (and no developmental concerns)
can give exogenous sex steroid therapy to induce puberty
170
CONGENITAL HYPOTHYROIDISM:
- what normally due to?
- how picked up?
- clinical features? 5
- consequence if not treated?
- management?
normally due to absence of thyroid gland (or a small or ectopic gland is present)
picked up in heel prick blood test (5-8 days)
- puffy face, macroglossia
- hypotonia
- prolonged neonatal jaundice
- delayed mental & physical milestones
- short stature
if not picked up, can cause severe learning disability (as well as growth restriction)
lifelong thyroid hormone replacement!
- prolonged follow up as will need to adjust levels as child grows
171
JUVENILE HYPOTHYROIDISM (ie hypothyroidism in children)
- most common cause in UK? who is this more common in? 3
- other causes? 2
Hashimoto’s autoimmune thyroiditis
more common in:
- diabetes
- down's
- turner's
other causes:
- post total-body irradiation (e.g. if previous treated for ALL)
- iodine deficiency (most common cause in developing world)
nb pituitary causes of hypothyroidism are incredibly rare in children
nb children with downs are norm screened annually for hypothyroidism and coeliac disease (as both are harder to spot)
172
JUVENILE HYPOTHYROIDISM:
- most common presenting symptom?
- other symptoms? 4
- what to always ask about?
SHORT STATURE
= most common presenting symptom
- drop in school performance
- delayed puberty
- constipation
- dry skin
presents pretty similarly to in adults
ASK ABOUT PMHx and FHx of autoimmune conditions
173
JUVENILE HYPOTHYROIDISM:
- bloods? 2 (and findings)
- management? 1
TFTs
- low T4 (thyroxine)
- high TSH
antithyroid antibodies
- positive if autoimmune cause
Thyroid hormone replacement – lifelong
- Prognosis is good
174
OBESITY:
- how is it measured in children?
- definition of overweight and obese in children?
- what is the most common cause of obesity in children? three features in the Hx which suggest this? (which you should ask about)
use BMI percentile charts for children under 18
overweight = over 91st centile
obese = over 98th centile
nb a 1/3rd of children leaving primary school are overweight or obese
NUTRITIONAL OBESITY
- family Hx
- social / emotional difficulties
- early puberty
175
OBESITY:
- recommended amount of daily activity for children under 18?
- what food group to recommend that they reduce?
- what do a lot of calories come from which kids often don't realise?
- what reward system to use to help motivate child to eat well?
- when is management of obesity most effective?
Kids under 18 need 60mins of activity a day that makes them breathless
reduce sugar intake
- kids need fat but sugar is just empty calories
fizzy drinks have a lot of calories in which kids don't realise
Use non-food items as a reward
Eg star charts to earn a trip to the park
most effective if get whole family on board
- also dietician if needed (most effective if see every wk or fortnight)
nb don't cut out snacks, unlike adults, kids need snacks, but just make them healthy snacks
176
OBESITY:
- what is a red flag for obesity that may indicate an underlying pathology?
- give some examples of what this could suggest? 5
RED FLAG = obesity but with short stature
- most obese children are also tall
- growth hormone deficiency
- hypothyroidism
- cushing's syndrome
- down's syndrome
- trader-willi syndrome
177
CONSEQUENCES OF CHILDHOOD OBESTY:
- orthopaedic? 3
- psychosocial? 2
- other relatively immediate complications? 3
- delayed complications / increase risk of in adulthood? 4
- Slipped upper femoral epiphyses
- Blount’s disease (developmental abnormality of the tibia = resulting in bowing of legs)
- MSK pain
- low-self esteem
- bullying / problems at school
^ALWAYS ask how kids are getting on at school
- asthma
- sleep apnoea
- idiopathic intracranial hypertension
INCREASE ADULTHOOD RISK OF:
- diabetes
- HTN
- dyslipidaemia (+IHD)
- PCOS
178
PHENYLKETONURIA:
- genetics?
- pathophysiology?
- consequences if not treated? 3
- classical physical features of children with PKU? 3
- other condition at greater risk of?
autosomal recessive mutation
deficiency of phenylalanine hydroxylase: this is the enzyme that converts phenylalanine to tyrosine
therefore get high levels of phenylalanine in the blood ->
- intellectual disability
- behavioural problems
- seizures (typically infantile spasms)
many PKU children have fair hair and blue eyes
- also 'musty' odour to urine and sweat
have higher rates of eczema
179
PHENYLKETONURIA:
- how most children with this picked up?
- other presentation?
- DDx? 1
- investigations? 2
- management? (and when is this management especially important?)
GUTHRIE heel prick test
- at 5-9 days of life
if not picked up on heel prick test then usually presents by 6 months eg with developmental delay and/or seizures
(nb this is one reason why you should always ask about developmental delay if child has seizures)
- a DDx is West Syndrome
- phenyl ketones in urine
- phenylketonuria in blood
if detected early, child can develop normally and live normal life
MANAGEMENT:
- Restriction on phenylalanine intake
- Supplements of tyrosine
Especially important when mother with PKU is pregnant as child may be genetically normal but get brain damage from high phenylketonuria level in maternal blood going through placenta
180
TALL STATURE:
- three common causes of tall stature?
- two important, but rare causes of tall stature?
- familial (ie tall family)
- early puberty
- overweight/obese
- klinefelter syndrome
- marfan syndrome
181
SHORT STATURE:
- physiological causes? 2
- malnutrition causes? 4
- endocrine causes? 2
- genetic causes? 3
- other cause? 1
- what cause do you have to rule out in girls?
- what is the most common cause?
PHYSIOLOGICAL
- constitutional (COMMONEST)
- delayed puberty (norm have a FHx)
MALNUTRITION (height is norm first feature of growth to be lost)
- social + emotional deprivation
- coeliac
- IBD
- chronic disease (eg kidney)
(also CF)
ENDOCRINE
- deficiency of growth hormone
- hypothyroidism
GENETIC
- turners (look for in girls)
- downs
- skeletal dysplasias (eg achondroplasia)
IATROGENIC
- steroid use (eg in asthma)
also remember rare things like malignancy
182
SHORT STATURE:
- what parts of the history must you always ask about when pt presenting small stature? 8
(one is just for teenagers)
- birth hx (where they prem?)
FULL systems review
- any anaemia (could be coeliac)
- any bowel symptoms
- any sign of cancer
- DO FULL TOP TO TOE!
- PMHx (any known comorbidities)
- DHx (any steroids)
- FHx (are parents short? any familial conditions?)
- SHx (any deprivation, social services etc)
- diet!!!!
if teenagers, ask about signs of puberty / menarche etc
183
SHORT STATURE:
- first two bedside investigations to do? (before any blood tests etc)
- bloods to do / consider? 4
- other investigation to do? 1
- plot growth and height on growth chart
- calculate mid-parental height (MPH) and target centile range (TCR) based on that
BLOODS
- FBC (anaemia)
- TFTs
- cortisol studies
- GH stimulation test
BONE AGE
- x-ray of hand/wrist of non-dominant hand
184
SHORT STATURE:
| - red flags for underlying pathology (ie unlikely to just be constitutionally short)? 4
- height is below TCR (which is based on MPH)
- reduced height velocity (drop of >2 centiles is bad)
- obesity
- other symptoms/signs (eg anaemia, GI symptoms etc)
Short & Fat = Pathological problem
Short & thin = chronic disease / malnutrition
185
Features which make constitutional short stature more likely than an underlying pathological condition? 5
- steady growth below centiles (within TCR)
- delayed onset of puberty
- FHx of delay
- delayed bone age
- not obese
186
MID-PARENTAL HEIGHT:
- how to calculate for boys?
- how to calculate for girls?
If boy:
(Mothers height + fathers height + 13) / 2
If girl:
(Mothers height + fathers height - 13) / 2
This tells you what the estimated adult height for child
- can calculate TCR (target centile range) from this
187
DDx of afebrile fits / seizures:
- age 1-4? 3
- age 4-8? 3
- age 9-16? 5
- any age? 2
ie things that cause things that look like seizures but aren't!!
AGE 1-4
- reflex anoxic seizures
- breath-holding attacks
- GOR, writhing or back-arching
AGE 4-8
- self-gratification 'fits'
- benign paroxysmal vertigo of childhood
- night terrors
AGE 9-16
- syncope
- migraine
- habit spasms (tics)
- behavioural disorders - psychosomatic
- dissociative seizures
ANY AGE
- day dreaming
- hypoglycaemia
DON'T FORGET TO CHECK GLUCOSE!!
188
DDx of fits with a temperature? 3
- febrile seizure
- meningitis
- encephalitis
189
REFLEX ANOXIC SEIZURES
- describe what happens? (before, during, after)
- what age affected?
- investigation? 1
- management? 2
- prognosis?
Brief episodes of asystole triggered by pain, fear or anxiety
- Child becomes suddenly pake, limp, loses consciousness (ie syncope), followed by tonic clonic phase
- Episodes usually resolves in 30-60secs, after which kids are tired
These are non-epileptic events
Can occur at any age, but most common between 6 months and 2 years of age
Diagnosis is usually based on the history, with a normal ECG
1) Once diagnosis has been made, parents should be reassured
2) If further attacks, put in recovery position
Good prognosis, majority grow out of it by age 5
190
BREATH-HOLDING ATTACKS:
- age affected?
- describe what happens? (before, during, after)
- what are the two types of attack? how does each present?
common
- occur in 1-2% of children up to age 5
- normally resolves in 18 months (can be up to 4 years)
often precipitated by frustration or pain
after one lusty yell the child holds their breath, goes red in the face, and may later become cyanosed and briefly loose conciseness
they then start breathing again and is soon back to normal
- sometimes the cerebral hypoxia is sufficient to cause brief generalised twitching
careful history can normally differentiate this from epileptic seizure
BLUE SPELLS
- most common
- cry or scream -> breathe out forcefully -> breath hold + turn blue (esp around lips) -> floppy + LOC
PALE SPELLS:
- less common
- caused by a slow heart rate
- open their mouth as if to cry but no sound comes out
- faint and look very pale
- brief period where their arms + legs become stiff or lose control of their bladder / bowel
191
BREATH-HOLDING ATTACKS:
- red flags? 4
- management? 2
RED FLAGS:
- very frequent spells (more than once a day or several times a week) - may be normal but should still see a dr
- lasts longer than a couple of minutes and child then confused/drowsy for several hours after
- any head injury prior to attack
- any neurodevelopment delay
MANAGEMENT
attacks are benign and self-limiting
- brain will trigger breath even without parent shaking child
1) reassure and explain to parents
2) should ignore attacks as much as possible, distraction at the right moment may help (as kids may then start doing it deliberately)
make sure parent does not scold or give child lots of attention after attack or they may start doing it on purpose
also DON'T put anything in mouth!!
192
SELF-GRATIFICATION 'FITS'
- what are they?
- age commonly affect?
- young children
- enjoy the feeling of tensing up or shaking
- not doing it to get out of school etc
193
HABIT SPASMS (TICS)
- what age most frequent in?
- features? 5
- what makes them worse / more frequent?
- management?
most frequent in boys age 8-11 years
- repetitive
- not rhythmical
- involuntary
- stereotypic (the same each time)
- often head + neck
eg forceful blinks, neck twist
worse with stress
- likely to improve with time
- low-key supportive approach usually all that's needed
194
behaviour disorders causing non-epileptic seizures
- how to differentiate between these and true seizures? 3
- management?
nb pseudo seizures is the old term
- now say non-epileptic or dissociative seizures! but this is less helpful
- actually dissociative seizures are not someone "faking it" but is just not 'epileptic', they are not under conscious control
true 'fake seizures', ie what kids/teenagers sometimes do to get out of school
- movements are random (in seizures, movements are rhythmic)
- eyes closed shut (in seizures, eyes are rolled back or look to the left)
- can distract them or give them saline and will improve
can also have pelvic thrusting
also less likely to bite tongue
MANAGEMENT
- really careful social Hx, any problems at home, school, other behavioural problems etc
- careful counselling with parents
- get a seniors help to help explain to parents
195
DISSOCIATIVE SEIZURES
- what are they?
- what normally causes them?
- how often diagnosed?
- management?
a whole variety of fits that occur, often mimic epileptic seizures but are due to a psychological cause, eg a traumatic event in childhood (can sometimes be hard to identify the trigger)
- ie sort of like PTSD
commonly misdiagnosed as epilepsy!
often diagnosed when someone is treated for epilepsy with anti-epileptics and there is no change in their seizures!
- also have no changes on EEG during seizures
- often begin in teens/young adults
- more common in women
- often have comrobid mental health conditions and/or hx of trauma, chronic disease, stressful life events etc
MANAGEMENT:
- CBT, psychotherapy, counselling
- manage stress
- improve sleep hygiene
nb dissociative seizures can go on longer than epileptic seizures
only need to call an ambulance etc if someone hurts themselves while having a seizure
196
DAYDREAMS:
- what are they commonly mistaken for?
- how to tell the difference?
Differentiate between this and an absent seizure!
In daydreams they keep doing what they’re doing but just ‘zone out’ absence seizures stop all activity
197
DIFFERENTIATING A SEIZURE FROM SYNCOPE:
- age?
- day or night?
- situation?
- prodrome?
- duration?
- tonic-clonic movement?
- colour change?
- tongue biting?
- incontinent of urine?
- after event?
SEIZURE:
- any age
- day or night
- commonly occur during inactivity
- brief prodrome (twitching, hallucinations, automatisms)
- variable duration
- tonic-clonic movement common
- may be cyanosis
- tongue biting (on side)
- urinary incontinence common
- drowsiness, confusion or headache afterwards for at least 30 mins
- rarely partial paralysis
SYNCOPE
- 8-15 years most common
- occur during day
- occur while standing
- long prodrome (dizziness, sweats, nausea)
- duration under 5 mins
- tonic -clonic movements are rare
- often get pallor
- tongue biting may occur on tip but not side
- urinary incintinence is rare
- quick full recovery
- never paralysis
198
Two main types of syncope that affect children?
- difference?
what investigation should everyone with suspected syncope get?
VASOVAGAL
- common in teens, rare in children
- standing, warm, no breakfast, fright, anxiety
CARDIAC
- more worrying
- commonest cause in children is long QT syndrome (always ask about FHx of this)
NEED AN ECG
199
What is a seizure?
definition of epilepsy?
other causes of seizure? 6
(nb don't include epilepsy syndromes in this DDx also non-epileptic seizures or syncope etc - these all covered in different flashcards)
SEIZURE
= Paroxysmal, excessive / hypersynchronus (usually self-limited) neuronal activity causing a change in the patient’s clinical state
EPILEPSY
= 2 or more unprovoked seizures at least 24 hours apart
- ie unrelated to fever or acute cerebral insult
- usually idiopathic but can be due to chronic cerebral insult or anatomical lesion
- febrile seizures
- infection (eg meningitis, sepsis)
- trauma / injury
- space occupying lesions
- electrolyte abnormality (eg hypoglycaemia)
- ingestion of drugs
nb also always consider seizure mimics (see other flashcards)
200
TYPES OF SEIZURES IN CHILDREN:
- types of generalised seizures? 5
- types of non-generalised seizures? 2
GENERALISED
- tonic clonic
- atonic
- tonic
- myoclonic
- epileptiform spasms (ie infantile spasms)
NON-GENERALISED
- focal aware (formerly known as partial)
- focal impaired awareness (formerly known as complex partial)
201
Qs to ask when taking a history of a suspected seizure:
- before? 3
- during? 8
- after? 1
- other things to ask about? 6
BEFORE:
- unwell before (incl fever, other symptoms)
- taken any drugs (teens)
- what were you doing?
any collateral hx (eg did they turn pale)
DURING:
- how long
- any LOC?
- what happened (get collateral to describe / film if possible)
- colour change?
- eyes rolling?
- tongue biting
- incontinence
- any treatment given
AFTER:
- sleepy/confused/amnesic after? for how long?
OTHER QUESTIONS:
- ever had before?
- any developmental delay?
- any known genetic conditions?
- any cafe au lait spots or port wine stains?
- any FHx of epilepsy?
- any problems at home or school?
if suspect faint can ask if had breakfast this morning
202
Investigations for 'first fit':
- what can parents do to aid diagnosis?
- bedside? 4
- bloods? 5
- who to refer to?
ASK PARENTS TO FILM SEIZURE
- BP
- capillary blood glucose
- ECG
- urine toxicology (if suspect drugs)
BLOODS
- calcium
- magnesium
- U+E
- FBC
- blood glucose
technically guidance is that you don’t need to do bloods unless there’s something to suggest a electrolyte cause - but norm do anyway
REFER to 'first fit' clinic
- they can EEG or video telemetry there (only works during fit)
203
MANAGEMENT OF EPILEPSY:
- 1st line for generalised seizures?
- 1st line for focal seizures?
- specific advice to parents about what to do if have fit?
- lifestyle advice to give parents following diagnosis? 5
1st line for generalised = sodium valproate
1st line for focal = carbamazepine (or lamotrigine)
nb the lowest dose of the safest drug that suppresses fits should be used - aim for monotherapy
IF HAVING A FIT:
- start timing
- remove anything could injury self with
- DON'T put anything in mouth
- call ambulance if not stopped after 5mins
- Patients should not lock the bathroom door when taking shower (bath not allowed)
- Inform lifeguards of diagnosis if going swimming
- Wear helmet while riding a bike
- Epileptic patients can’t drive unless fit free for a year
- Seizure care plan to nursery / school (ie what should they do if they have a seizure)
204
STATUS EPILEPTICUS:
- definition? incl when to treat?
- management algorithm?
- additional investigations (2) + management (2) to consider if suspect metabolic / eectrolyte cause?
STATUS EPILEPTICUS
One continuous seizure (>30 mins) or combination of seizure without full recovery of conciousness
- Actually now TREAT AT 5 MINS FOR GENRALISED and TREAT AT 10 MINS FOR FOCAL as we know that damage starts to happen after 5 mins
MANAGEMENT OF STATUS
1) Wait 5 mins (attach monitors, administer facial O2 and suction excretions)
2) Give first dose benzo (IV lorazepam or buccal midazolam)
3) Wait 10 mins
4) Give 2nd dose benzo
5) Wait 10 mins
6) Phenytoin infusion (can do IO access if no IV access)
7) Wait 20 mins
8) Rapid sequence induction (with thiopentone) and PICU transfer
ONLY GIVE MAX TWO DOSES OF BENZOS!!
```
INVESTIGATIONS
- capillary blood glucose
- blood gases
MANAGEMENT
- give dextrose if hypoglycaemic
- coprrect an electrolyte abnormality
```
205
List some common epilepsy syndromes? 4
what age does each tend to occur at
infantile spasms / west syndrome
- start age 1-6 months
childhood absence epilepsy
- onset between 3-12 years
juvenile myoclonic seizures
- older children
BECTS (benign partial epilepsy of childhood with centrotemporal spikes
- onset between 3-12 years (peak age 9)
nb seizures are common in the first month of life and can be due to a wide variety of things: birth injury, metabolic, infective, developmental abnormalities - need extensive work up!
206
INFANTILE SPASMS:
- describe them (incl length)
- normal age if onset?
- what is it really important to ask about in Hx?
- what could two underlying conditions could cause them?
infant doubles up, flexing at waist and neck, and flinging arms forward - a flexor spasm (less commonly can have extensor spasms)
- aka jack knife
last a few seconds in clusters, lasting up to half an hour
age 1-6 months
ask if any developmental delay
- also ask about birth and PMHx too
if no developmental delay or regression then could just be isolated infantile spasms
if is developmental delay then could be due to:
- tuberous sclerosis (most common cause)
- West Syndrome (aka idiopathic infantile spasms)
207
WEST SYNDROME:
- possible investigations?
- triad of features?
- medical management options? 3
- prognosis?
- developmental assessment
- brain imaging (to look for tuber-sclerosis)
- EEG
(can also do metabolic screen for rare causes and electrolyte bloods)
```
TRIAD OF
- infantile spasms
- motor regression
- typical EEG pattern (hyper
(with no obvious brain lesions)
```
MANAGEMENT:
- vigabatrin
- steroids
- ACTH
prognosis not great, high mortality and survivors have severe developmental delay and recurrent seizures
208
CHILDHOOD ABSENCE EPILEPSY:
- age of onset?
- describe what happens
- what additional Qs to ask in Hx? 2
- EEG finding? 1
Onset between 3-12 years of age
Child ‘day dreaming’ in class
- Happens 10-15 times a day (lasts 5-20 secs)
- May have automatisms (eg eye flickering + lip smacking)
ASK ABOUT:
- development (are developmentally normal)
- FHx (common positive FHx)
Three spikes in 1 second on an EEG (done at any point - don’t have to be fitting)
209
JUVENILE MYOCLONIC SEIZURES:
- who more common in?
- describe them?
- what can trigger them? 3
- management?
More common in girls
Characterised by:
- Tonic clonic seizures provoked by sleep deprivation
- Absense seizures
- Early morning myoclonic jerks of upper limbs (eg droppping things, clumsy)
May be triggered by:
- flashing lights (40%)
- sleep deprivation
- alcohol
Majority are well controlled with anti-epileptics which may need to be lifelong
210
BECTS (benign partial epilepsy of childhood with centrotemporal spikes)
- age of onset?
- describe the seizures?
- management?
BECTS (benign partial epilepsy of childhood with centrotemporal spikes)
Onset between 3-12 years, peak at 9 years
- Nocturnal benign seizures
- Unilateral parasthesia of the face, with ipsilateral facial motor seizure
- No LOC but unable to speak, and often salivation
- Lasts around 1-2 mins
- Day time seizures are rare
Seizures resolve during puberty without treatment
