Paeds Flashcards
name 5 conditions tested for by the guthrie test?
sickle cell hypothyroidism CF maple syrup urine disease phenylketonuria
what does the APGAR score test for?
Appearance- colour Pulse Grimace Activity - muscle tone Respiratory effort
7-10 good
0-3 low
what are some complications of premature birth?
NEC RDS- surfactant deficiency retinopathy of prematurity PDA jaudince- liver immaturity intraventricular haemorrhage
what are the ways to categorise neonatal jaundice?
present at birth/appears in first 24 hours- pathological
appears after 24 hours and resolves by 14 days - physiological
continues after 14 days- prolonged
causes of pathological jaundice?
rhesus d incompatibility/ABO
G6PD-deficiency
Infection - congenital (CMV, syphilis, rubella, toxoplasmosis, herpes)
Spherocytosis
what is the pathophysiology of rhesus/ABO incompatibility?
mother is rhesus -ve, baby is rhesus +ve (due to rhesus +ve father), sensitisation event occurs where mother is exposed to foetal blood -> causes body to produces auto-antibodies against rhesus +ve RBC’s, which then cross the placenta and destroy the foetal RBC’s leading to physiological jaundice. The same occurs if a mothers blood type is O and the foetus is either A or B.
investigations of suspected rhesus incompatibility?
rhesus negative mothers and O blood group - indirect coombs test
foetal blood sampling/doppler USS- can show foetal anaemia + increased reticulocyte
direct coomb test after birth to check
management of incompatbility ABO or rhesus?
transfusion with group O negative blood
anti-D immunoglobulin
what is the danger of prolonged jaundice in neonates?
can develop kernicterus - bilirubin crosses blood/brain barrier which can lead to cerebral palsy (non-progressive permanent cerebral insult)
mode of inheritance of G6PD deficiency?
X-linked recessive
pathophysiology of G6PD deficiency?
reduced G6PD leads to reduction in glutathione which causes increased susceptibility of RBC to oxidative stress
management of G6PD deficiency in neonates?
exchange transfusion
phototherapy
causes of physiological jaundice in neonate?
immature hepatic bilirubin conjugation
infection: sepsis/UTI
haemolytic disorders
breast milk jaundice
management of neonatal jaundice?
blue light phototherapy
exchange transfusion if very high
investigations of neonatal jaundice?
serum bilirubin to monitor
causes of prolonged neonatal jaundice?
unconjugated:
-infection
-breast milk
-haemolytic anaemia
-hypothyroidism
conjugated:
-bile duct obstruction - biliary atresia
neonatal hepatitis
what is biliary atresia?
complete or partial obstruction of the extrahepatic biliary tree within the first 3 months of life
signs and symptoms of biliary atresia?
neonatal prolonged jaundice - often 8 weeks after birth (can have an episode of transient jaundice at birth which then resolves, followed by further jaundice 8 weeks later) pale stools dark urine failure to thrive hepatomegaly + splenomegaly
investigations of biliary atresia?
serum bilirubin - normal conjugated bilirubin- abnormally high serum alpha-1-antitrypsin CF sweat test USS of biliary tree percutaneous liver biopsy with intraoperative cholangioscopy
management of biliary atresia?
surgical intervention
pathophysiology of neonatal respiratory distress syndrome?
widespread alveolar collapse due to surfactant deficiency (immature lungs in neonate- surfactant starts to be produced at 24 weeks). This leads to inadequate gas exchange.
RF for RDS?
premature birth
C-section delivery
maternal diabetes
past hx
presentation of RDS?
nasal flaring grunting tachypnoea tracheal tug intercostal recession
investigations and findings in RDS?
CXR: bilateral diffuse ground glass appearance, reduced lung volume
management of RDS?
surfactant administration (intra-thecal) oxygen via nasal cannula (CPAP)
prevention of RDS?
corticosteroids (betamethasone/dexamethasone) 1-7 days before birth
presentation of PDA?
if large- poor growth, difficulty feeding and breathing
continous machinery murmur at upper L sternal border radiating to the back
investigations of PDA?
CXR- cardiomegaly
ECHO
management of PDA?
indomethacin - to close
surgical closure if fails
likely diagnosis in neonate who is vomiting and has distended abdomen with fresh blood in stool?
NEC
pathophysiology of NEC?
bacterial invasion of ischaemic bowel wall typically seen in premature infants
symptoms of NEC?
vomiting - may become billous poor feeding distended abdomen fresh blood in stools shock
investigations of NEC?
XRAY: distended bowel loops, thickening of bowel wall with intramural gas, bowel wall oedema, RIGLER SIGN- air inside and out of bowel, FOOTBALL SIGN- air outlining the falciform ligament
FBC- ESR/CRP
management of NEC?
stop oral feed
broad spec abx IV
total parenteral nutrition
surgery if necrotic or perforation
what is retinopathy of prematurity?
hyperoxic insult (i.e. O2 therapy in premature infant), causes neovascularization -> retinal haemorrhage, fibrosis and reintal detachment, ultimately leading to blidness
genetics of downs syndrome?
chr 21 trisomy due to: meiotic non-disjunction translocation mosaicism
what some non-physical features of downs syndrome?
hirschsprungs duodenal atresia septal defect (VSD) alzheimers ALL tetralogy of fallot PDA
what are some physical features of downs syndrome?
epicanthial fold simian crease/single palmar crease low set ears flat nasal bridge protruding tongue sandal gap short stature flat occiput hypotonia when born
diagnosis of down syndrome?
combined test at 10-14 weeks
Quadruple test at 15-20 weeks
Amniocentesis from 20 weeks
what does the combined test look for?
nuchal translucency
B-HCG
PAPPA
what does the quadruple test test for?
alpha fetoprotein
oestriol
B-HCG
Inhibin A
what are the risks of amniocentesis?
miscarriage
chorioamnionitis
amniotic fluid embolism
injury to foetus
what is the genetic defect in patau syndrome and how does it present?
trisomy 13
small eyes
cleft lip
rocker bottom feet
polydactyly
what is the genetic defect in edwards syndrome and how does it present?
Trisomy 18
small mouth and chin
rocker bottom feet
overlapping fingers
what is genetic defect in turners syndrome and features?
45, XO
short stature
webbed neck
infertility
absence of secondary sex characteristics
bicuspid aortic valve -> ejection systolic murmur
what is the definition of cerebral palsy?
permanent non-progressive cerebral insult
causes of cerebral palsy?
TORCH infections hypoxic-ischaemia injury kernicterus traumatic delivery meningitis/encephality hydrocephalus/head trauma
what are the types of cerebral palsy and some of their defining features?
spastic = UMN damage (spasticity, hyperreflexia, stiff muscles, clonus, pain, tight muscles)
dyskinetic/athetoid= basal ganglia damage (involuntary uncontrolled movements- chorea, athetosis, dystonia)
ataxic/hypotonic= cerebellum damage (hypotonia, poor balance)
key features of ASD?
persistent communication and social interaction impairement (poor communication, eye contact, reduced emotional response)
restricted, stereotyped pattern of behaviour, interests and activities (repetitive movements, fixation etc)
features of foetal alcohol syndrome?
thin upper lip epithcanthic folds microcephaly short nose short palpabral fissure
likely diagnosis in child with conjunctivities, cough and coryzal symptoms followed by a maculopapular rash that starts behind the ears and white spots in the mouth?
measles
causes of measles
paramyoxovirus
feautres of measles?
prodrome: coryza, conjunctivitis, cough
koplik spots: white spots on buccal mucosa
maculopapular rash that starts behind the ears
complications of measles?
encephalitis febrile seizures DEAFNESS hemiplegia learning difficulties
likely diagnosis in child aged 5-9 with fever, malaise and large swelling of parotids?
mumps
complications of mumps?
orchitis + infertility
pancreatitis
meningitis/encephalitis
deafness
how does rubella present?
maculopapular rash that starts on face
suboccipital and postauricular lymphadenompathy
what is the presentation of chicken pox?
rash- starts as macules, then papules appear as crops, then vesicles that start on head and trunk and progress to peripheries, then crusts over
what medication should be avoided in chicken pox?
NSAID!
increases risk of necrotising disease
what virus causes shingles?
VZV
management of shingles?
aciclovir
presentation of infecitous mononucleosis?
tonsillitis cervical lymphadenopathy fever malaise petechiae on soft palate
likely diagnosis in child with fever and malaise, who a week later develops a erythematous rash on the face?
Parvovirus B19 (slapped cheek)
what are the features of slapped cheek?
viraemic phase- fever, headache, malaise
1 week later- erythematous maculopapular (often described as lace) rash on face which spreads to extremities and trunk
likely diagnosis in child with honey crusted plaques on chin?
impetigo
what is impetigo?
staph aureus or strep pyogenes infection (very infectious)
management of impetigo?
topical fusidic acid
systemic flucoloxacillin if severe
what is the likely diagnosis in a child with a sand paper like rash that started on the neck and spreads to body, and strawberry tongue?
scarlet fever
what is scarlet fever
infection with group A strep- strep pyogenes
features of scarlet fever?
sore throat vomiting headache sand paper like rash strawberry tongue enlarged tonsils
management of scarlet fever?
phenoxymethylpenicillin for 7 days
self isolate for 24 hours after starting antibiotics (can return to work after that)
notify public health england
likely diagnosis in patient with purpura on back of legs and buttocks?
Henoch-schonlein purpura (HSP)
what is HSP?
autoimmune IgA mediated small vessel vasculitis
presentation of HSP
often preceded by URTI 1-3 weeks earlier
symmetrical palpable purpura rash on lower back legs and buttocks
joint pain
abdominal pain
renal involvement
rash, GI upset, arthritis
investigations of HSP?
check renal function - U+E
serum IgA level
skin biopsy - small vessel vasculitis
urinalysis (should always be performed)- haematuria if renal involvement
management of HSP?
self limiting
paracetamol
management of bacterial meningitis?
IM benzylpenicillin in GP
IV ceftriaxone
organisms that cause bacterial meningitis in children?
GBS E.coli listeria monocytogenes Neisseria meningitidis HiB strep pneumoniae
what are the cyanotic congenital cardiac conditions?
tetralogy of fallot
transposition of the great vessels
what are the non-cyanotic cardiac conditions?
PDA
VSD
ASD
pansystolic murmur best heard at the left lower sternal edge?
VSD
feautres of VSD?
hepatomegaly poor feeding failure to thrive tachypnoea can be asymptomatic PANSYSTOLIC murmur at left sternal edge radiating to the axilla/back (VSD, VIP= Pansystolic) active precodrium thrill gallop rhythm