sat 7th Flashcards
Genetics of neurofibromatosis type 1
chromosome 17- neurofibrimin
Criteria of neurofibromatosis type 1 and how to remember it
CRABING
C- cafe au lait spots (>15mm)
R- relative with NF1
A- Axillary and lymph node freckling
B- Bony dysplasia- leg bowing
I- Iris harmartomas (yellow brown spots in eye)
N- neurofibromas
G- gliomas in optic pathway
What can cause occlusion of the anterior spinal artery in anterior cord syndrome
iatrogenic causes- occurs during cross clamping of the aorta
severe hypotension
vasculitis
atherothrombosis
cocaine
What drops are used to diagnose horners
apraclonidine
what drops can help locate horners
hydroxyamphetamine
What drugs may be used in the chronic management of MS
natalizumab
ocrelizumab
beta interferon
What are some contraindications to thrombolysis following stroke?
GI bleeding in the past 3 weeks
LP in the past 7 days
Stroke or head trauma in the past 3 months
intracranial neoplasm
seizure at stroke onset
previous intracranial haemorrhage
oesophageal varices
uncontrolled hypertension
suspected SAH
Pathophysiology of lambert eaton syndrome
autoimmune condition associated with small cell lung cancer where there is antibodies that target the voltage gated calcium channels- leads to weakness that improves with repetitive stimulation
how is lambert eaton diagnosed and what does it show?
EMG - shows incremental response to repetitive stimulation
What surgical procedure is used in biliary atresia?
kasai portoenterostomy
what sign does duodenal atresia have
double bubble sign
what cancers are associated with coeliac disease
non-hodgkins lymphoma
what is a specific complication of hirschprungs
hirschprungs associated enterocolitis
what surgical procedure is used in hirschprungs
swenson procedure
what sign does intersussception have on USS
target sign
what conditions are associated with intusscusseption
meckel diverticulum and recurrent viral illnesses
what is the pathophysiology of Meckel diverticulum
persistence of the embryological vitelline duct
How does meckel diverticulum present?
asymptomatic
painless vaginal bleeding
volvulus or intussuception
What scan is used for meckels diverticulu
technetium-99m pertechnetate scintigraphy
what is the management of meckels diverticulum
laparotomy
what is the 2 rule for meckel’s diverticulum
it is 2 inches long
it occurs 2 feet from the ileocaecal valve
it affects 2% of the population
what procudure may be used to treat malrotation if risk of volvulus
ladds procedure
long term management of cows milk protein allergy
milk ladder- starts with malted milk biscuits
what sign does volvulus have on abdominal x ray
coffee bean sign
what conditions are associated with malrotation
exomphalos, congenital diaphragmatic hernia
and intrinsic duodenal atresia
how is cows milk protein allergy diagnosed?
skin prick test
how does volvulus present?
diffuse abdo pain
complete consitpation
green bilious vomiting
how do infantile spasms present on EEG
hypsarrhythmia
what might be used to treat infantile spasms
vigabtrin or steroids
how does lennox-gastraut present of EEG
slow spike
how do typical absence seizures present on EEG
3Hx generalise symmetrical
what is the recurrence rate of febrile convusions
30-40%
what defines status febrile convulsions
longer than 30 mins
what may be used to treat spasticity in cerebral palsy
baclofen
what may be used to treat drooling in cerebral palsy
glycopyronium bromide
what two types of hydrocephalus are there and what are causes of each
communicative- SAH, meningitis (failure of CSF absorption)
non-communicative- congenital malformations such as stenosis of the cerebral aqueduct)
how is hydrocephalus diagnosed in chidlren?
cranial USS
what can cause squints in children
idiopathic
refractive error
visual loss
ophthalmoplegia
what two types of squints are there
concominant (most common- non paralytic
non-concominant (paralyic )
who need to be referred to an optician for squints
those with paralytic squints, those with divergant squints, those over 2
who needs USS in during UTI
any age with atypical UTI
under 6 months with recurrent UTI
who needs USS 6 weeks after UTI
under 6 months with any UTI
>6 months with recurrent UTI
who needs DMSA scan?
under 3 years with recurrent or atypical UTI
over 3 years with recurrent UTI
what causes haemolytic uraemic syndrome?
GI infection with shigella producing E.coli
What can increase the likelihood of getting haemolytic uraemic syndrome?
using loperamide or antibiotics
how does haemolytic uraemic syndrome present?
prodrome of bloody diarrhoea
then:
- abdo pain
- bruising
- confusion
- haematuria
- lethargy
- decreased urine output
what percentage of undescended testes are bilateral?
25%
when should referral for undescended testes occur and when should surgery occur
referral by 3 months
surgery by 6 months
if a child is found to have bilateral undescended testes what should be done
urgent paeds referral within 24 hours
what are some causes of nocturnal enuresis ?
overactive bladder
fluid before bed (fizzy drinks)
failure to wake- undeveloped bladder signals
psychological distress
what conditions is hypospadius associated with?
undescended testes and inguinal hernia
at what age does surgery for hypospadius occur?
by 12 months
what symptom my those with hypospadius get due to chordee?
pain during sex
what is the inheritence of congenital adrenal hyperplasia?
autosomal recessive
what enzyme is deficient in congenital adrenal hyperplasia?
21 alpha hydroxylase
what does the skin appear like in congenital adrenal hyperplasia and why?
it will be highly pigmented as high ACTH
For how long do children with chickenpox need to stay off school?
5 days or until all the scabs have crusted over
For how long do children with mumps need to be kept of school
5 days since swelling
how long do children with impetigo need to stay off school
until sores have healed and crusted over
or 48 hours after antibiotics
for how long do children with measles and rubella need to be kepts of school
4 days after rash develops
for how long do children with scarlet fever need to be kept off school
24 hours after starting antibiotics
for how long do children with whooping cough need to be kept off school?
48 hours after starting antibiotics or 21 days
What coniditons do children not need to be kept off school for?
hand foot and mouth
slapped cheap syndrome
headlice
threadworms
tonsilitis
glandular fever
Dose of IM penicillin if:
- under 1:
- 1 to 9:
- over 9:
- under 1: 300mg
- 1 to 9: 600mg
- over 9: 1200mg
treatment of meningitis in under 3 months
IV cefotaxime and amoxicillin
if meningitis is associated with massive adrenal haemorrhage and septic shock what is it called?
friedrich waterhouse
How is mumps diagnosed?
PCR testing
Management of chickenpox in pregnancy:
- before 20 weeks
- after 20 weeks
before: give VZV immunoglobulins
after: give aciclovir
what are some potential complications of chickenpox
pneumonia
bacterial superinfection
encephalitis
conjunctival lesions
how is chickenpox treated in immunocompromised?
aciclovir
what virus causes rubella ?
toga virus
how does rubella present?
low grade fever
maculopapular rash
lymphadenopathy
Whats the name of the sign that may be seen on x ray of TB?
coin sign
what are the 4 drugs used in the treatment of TB?
rifampicin
isoniazid
Pyrazinamide
Ethambutol
SE of rifampicin
red secretions
SE of isoniazid
peripheral neuropathy
SE of pyrazinamide
gout
SE of ethambutol
eye problesm- optic neurtitis
what oral sign is seen in roseola infantum
nagayama spots on uvula and hard palate
complications of scartlet fever
rheumatic fever
otitis media
glomerulonephritis
how does scartlet fever present?
fever, strawberry tongue
rash- spares pams, soles and oral region, starts on torso
rash is described as sandpaper rash
Complications of measles
otitis media
pneumonia
encephalitis
subacute sclerosing panencephalitits (5-10 years after(
How can you remember the criteria for kawasaki disease
CRASH and burn
Conjunctivitis (bilarteral)
Rash
Adenopathy (lymph node enlargement)
Strawberry tongue
Hand and feed peeling
Burn- fever> 39 for 5 days
3 phases of kawasaki disease
acute
subacute
convalescent
what is the pathophysiology of kawasaki disease?
systemic medium sized vessel vasculitis
how is kawasaki treated ?
IV immunoglobulins and aspirin
How do you differeniate polyarticular and oligoarticular JIA
poly= 5 or more joints in the first 6
How is JIA defined
arthritis for more than 6 weeks in those under 16
what criteria is used for septic arthritis ?
Kocher criteria
what makes up the kocher criteria?
- fever >38.5
- refusal to weight bear
- WCC> 12,000 cells/mm3
- ECR >40 mm/h
what is the most common cause of septic arthritis in children?
staph. aureus
Who needs same day paeds assessment for transient synovitis
under 3 with a limp
any child with a fever and limp
what does X ray show in perthes disease?
widening of the joint space
if X ray doesn’t show changes in perthes disease what investigation should be done?
MRI
what staging is used for perthes disease?
cattarall staging
management of perthes :
- before 6 years
- after 6 years
before- observation
after - surgery
gold standard investigation of osteomyelitis
bone marrow aspirate and culture
If leg length discrepancy is found when looking for DDH what test can be done ?
galleazi test
Who will have a hip USS at 6 weeks for DDH
those who were breech at or after 36 weeks
those with a first degree relative with DDH
multiple pregnancies
When are all babies screened for DDH?
NIPE and at 6 week examination
which hip is more common in DDH
left hip
Describe neonatal rescusitation
- WARM BABY
- 5 inflation breaths
- repeat 5 inflation breaths
- 30 second ventilation breaths
- compressions:
- rate of 3:1
- using 2 fingers
- 4cm deep
what antibiotics are given in neonatal sepsis
IV benzypenicillin and gentamycin
what classifies early onset neonatal sepsis
within the first 72 hours
what level of blood glucose defines neonatal hypoglycaemia
<2.6 mmol/l
When should dextrose be given for neonatal hypoglycaemia
if symptomatic or <1.5mmol/l
Which of caput succedanium and cephalohaematoma crosses the suture lines?
caput succendanium
what staging system is used to calculate the severity of hypoxic ischaemic encephalopathy
sanart staging system
define physiological jaundice
jaundice that occurs after 24 hours and less than 2 weeks in term infants and 3 weeks in premature infants
two treatment options for jaundice
phototherapy
exchange transfusion
what are the three types of pathological jaundice
early onset (<24 hours)
late onset (after 2 or 3 weeks)
conjugated
3 reasons why physiological jaundice occurs
high Hb concentration at birth so increased breakdown
fetal haemoglobin has a short lifespan (70 not 120)
hepatic bilirubin metabolism is less efficient in the first few days of life
How does kernicterus present?
lethargy-> hypotonia-> hypertonia
poor feeding
fever
high pitched cry
opisthotonos (Arching position)
what are some complications of kernicterus
athetoid cerebral palsy
deafness
low IQ
what are some causes of prematurity
previous preterm birth
cervical insufficiency
multiple pregnancy
placental insufficiency
iatrogenic
What are the different classes of prematurity
<28= extreme
28-32= very
32-37= moderate
What are some early complications of prematurity
RDS
hypothermia
hypoglycaemia
retinopathy of prematurity
poor feeding
apnoeas and bradycardias
NEX
immature immune system and infection
neonatal jaundice
what are some long term complications of prematurity
chronic lung disease of prematurity (bronchopulmonary dysplasia)
learning and behavioural difficulties
hearing and visual impairments
cerebral palsy
resp infection
before what gestation would you give steroids for before birth
36 weeks
before what gestation would you give IV mag sulf before birth
34 weeks
explain the pathophysiology of retinopathy of prematurity
abnormal development of the blood vessels in the retina-> may occur as a result of o2 therapy as hypoxia stimulates growth of the blood vessels
how is retinopathy of prematurity treated?
transpulmonary laser photocoagulation
who is screened for retinopathy of prematurity
babies born less than 32 weeks and those less than 1.5kg
what two things are seen on chest xray in transient tachypnoea of the neonate ?
hyperinflation
fluid in the horizontal fissure
RF for respiratory distress syndrome
caesarean
hypothermia
perinatal hypoxia
meconium aspiration
maternal diabetes
preamturity (<32(
chest x ray appearance of resp distress syndrome
ground glass
short term complications of resp distress syndrome
pneumothorax
infection
apnoea
NEC
long term complications of resp distress syndrome
chronic lung disease of prematurity
where in the bowel is most commonly affected by NEC?
distal ileum and proximal colon
when does NEC commonly occur
second week of life
what are two protective factors against NEC
antenatal corticosteroids and breastmilk feeds
what sign is there for pneumatosis intestinalis?
soap bubble/halo sign
Key sign seen in congenital rubella
absent red light reflex due to cataracts
how does congential CMV present?
blueberry muffin rash
deafness
eye inflammation
microcephaly
seizures
how does congenital HSV present?
craniofascial malformations
rash
deafness
fetal death
Who should be given antibiotics for otitis media?
- <2 with bilateral otitis media
- with ear discharge (otorrhoea)
- symptoms havent resolved after 3 days
who needs specialist assessment for otitis media
under 3 months with temp >38
3-6 months with temp >39
what antibiotic is given for otitis media?
amoxicillin
what bacteria most commonly causes otitis media
strep pneumoniae
what is pierre robin sequence
a rare congenital birt hdefect characterised by underdeveloped jaw (micrognathia), backwards displacement of the tongue (glossoptosis) and airway obstruction, and u shaped cleft palate
which is more common cleft lip or cleft palate?
palate
what are some RF for cleft lip and palate?
maternal anti-epileptic use
maternal diabetes and obesity
patau syndrome
kallman syndrome
what medication can be given to prevent vasoocclusive crisis in sickle cell disease?
hydroxycarbamide
gene that alpha thalassaemia is inherited from ?
chromosome 16
gene that beta thalassaemia is inhertied from ?
chromosome 11
what birth mark is caused by vascular malformations in the dermis ?
naevus flammeus (port wine stain)
what condition is associated with port wine stains?
sturge weber syndrome
when do cavernous hemangiomas arise and what is another name for them?
usually present in first month of life (not present at birth)
also called a strawberry naevus
describe capillary hemangiomas
also called stalk bites- salmon pink macules on the upper eyelid, mid forehead and neck
How can you differentiate wilms tumours and neuroblastomas ?
wilms tumours will not cross the midline whereas neuroblastomas will
How do neuroblastomas present?
abdominal mass
pallor
weight loss
bone pain
limp
hepatomegaly
what can be tested for in the urine of neuroblastomas?
there will be raised VMA and HVA levels
what can be seen on x ray of a neuroblastoma ?
calcifications
inheritance of retinoblastomas?
autosomal dominant
How do osteosarcomas present on x ray?
poorly defined lesion with sunburst appearance
how do ewings sarcomas present on x ray
lamellated- onion skinning
How do ewings sarcomas present on MRI
large mass with evidence of necrosis and small blue round cells with clear systoplasms
How do posterior cerebral artery strokes present?
contralateral homonymous hemianopia with macular sparing
visual agnosia
How does lateral pontine syndrome differ from wallenberg’s
it has additional deafness
How does webers syndrome present?
3rd nerve palsy and contralateral weakness of upper na lower limb
How does a posterior communicating artery stroke present?
painful 3rd nerve palsy
What scoring system is used to determine the disability level post stroke?
Barthel’s index
1st and 2nd line management for secondary prevention of ischaemic stroke
1st line= clopidogrel
2nd line= aspirin and dipyridamole
When would you do an immediate assessment for TIA
if on blood thinners or has a blood disorder.
How is myasthenic crisis treated?
IV immunoglobulins and plasma exchange
how do people with huntingtons disease usually die?
aspiration pneumonia
what is deficient in huntingtons
GABA - and inhibitory neurotransmitter
How does idiopathic intracranial hypertension present?
headache- worse on lying down
blurred vision
papilloedema
enlarged blind spot
6th nerve pasly
what drugs are associated with idiopathic intracranial hypertension?
COCP
steroids
vitamin A
lithium
tetracyclines
what medications might be used in the management of idiopathic intracranial hypertension?
acetazolamide
topiramate
who is donzepil contraindicated in
those with bradycardia
when should someone with bells palsy be referred?
3 weeks
what is the main SE of levodopa
excessive motor activity (dyskinesia)
what parkinsons drug can cause pulmonary fibrosis ?
dopamine agonsits- cabergoline
list some dopamine agonists
bromocriptine
cabergoline
ropinorole
what two drugs can be used to treat benign essential tremor ?
propranolol and primidone
define seizures
transient episodes of abdnomal electrical activity in the brain
How long must epileptics not drive cars after a seizure?
1 year (or 6 months if just a seizure and not epilepsy)
How long must epileptics not drive lorries after a seizure?
10 years
What defines bronchopulmonary dysplasia?
infants who still have an oxygen requirement at 36 weeks postmenstrual age (gestational age plus chronological age)
or who need it at 28 days
Who is mainly affected by bronchopulmonary dysplasia?
those born before 28 weeks who experienced RDS and required oxygen therapy at birth.
RF for bronchopulmonary dysplasia
intrauterine growth restriction
male
chorioamnionitis
smokng
What measures may be taken to prevent the development of bronchopulmonary dysplasia?
-using CPAP instead of ventilation where possible
-minimising ventilation associated lung injury by monitoring tidal volumes
-high calorie nutrition
-using caffeine to stimulate resp effort
What are some complications of bronchopulmonary dysplasia?
serious bronchiolitis
Cerebral palsy
intraventricular haemorrhages
cardiac dysfunction
how should raised ICP be managed?
- elevate the patients head to 30 degrees
- IV mannitol
- controlled hyperventilation (hypocapnia causes vasoconstriction of the arteries)
- remove CSF- drain, VP shunt, repeat LPs
what tracts are damaged i
