Paediatrics Flashcards
mode of inheritance of sickle cell
autosomal recessive
mode of inheritance of cystic fibrosis
autosomal recessive
mode of inheritance of huntingtons
autosomal dominant
mode of inheritance of achondroplasia
autosomal dominant
can a male pass on an mitochondrial disease
no
give 2 examples of conditions with genetic anticipation
huntingtons and myotonic dystrophy
small head and eyes with cleft lip, polydactyly and scalp lesion
patau
trisomy 13
small jaw, low set ears, overlapping fingers and rocker bottom feet
edwards
trisomy 18
large/long face and ears, large testes, learning difficulties and mitral valve issue
fragile x syndrome
short, webbed neck, pectus excavatum, pulmonary stensosis
noonan syndrome
small jar, cleft palate, posterior displacement of the tongue
pierre-robin syndrome
hypotonia, small tests and constant hunger
prader willi
inheritance of prader willi
imprinting
short, broad forehead, friendly, learning difficulties, neonatal hyperglycaemia and aortic stenosis
williams syndrome
characteristic cry, poor feeding, learning difficulties, small head and jaw with a large gap between the eyes
Cri du Chat
chromososmal 5 deletion
short with a shield chest, widely spaced nipples, webbed neck, cystic hygroma, primary amenorrhoea, hypothyroid and lymphoedema
turners syndrome
cardiac abnormalities in turners syndrome
bicuspid aortic valve, coarctation of the aorta, ejection systolic murmur
What does the APGAR score stand for and how is it calculated
Appearance, Pulse, Grimace, Activity, Respiration
0-1-2 in each
compression: ventilation in newborn resuss
3 compression to 1 ventilation
compression rate in all infant arrests
100-120 bpm
where do you check for a pulse in neonates
femoral and brachial
define neonatal death
between birth and 28 days
when is the newborn blood spot carried out
5-9 days
is it normal for saturations to drop in the first 10 mins of life
yes
how does congenital adrenal hyperplasia present
ambiguous genitalia
how does cephalohaematoma present
several hours after birth
does not cross the suture lines
risk factors for SIDS
prone sleeping, smoking, premature, co-sleeping, hyperthermia
risk factors for DDH
female, breech, fhx, first born, LWB, oligohydramniosis
when is the DDH USS carried out
6w
cause of facial defects in neonate
maternal antiepileptic drug use
abnormal newborn hearing test
refer for the brainstem one
jittery and hypotonic baby
neonatal sepsis
what can maternal labetalol use cause
neonatal sepsis
management of symptomatic and non-symptomatic neonatal sepsis
no sx: feed and monitor glucose
sx: IV 10% dextrose
LBW, hearing loss, rash, small head and seziures
congenital CMV infection
sensioneural deafness and congenital cataracts
congenital rubella
management of hypoxic brain injury
therapeutic cooling
bowel sounds in NIPE resp exam
CDH
PANSYSTOLIC murmur in the left lower sterrnal border
VSD
EJECTION SYSTOLIC murmur in the left upper sternal border
Pulmonary stenosis
Continuous diastolic machinery murmur in the left upper sternal border with a collapsing pulse and left subclavicular thrill
Patent ducts arteriosus
medication to close PDA
Indomethacin
crescendo-decrescendo murmur in left upper sternal border
coarctation of the aorta
how does coarctation of the aorta present
circulatory collapse at 2 days when the duct closes
heart failure
absent femoral pulses
name the 5 cyanotic heart diseases
Transposition of the great arteries (loud S2)
Tricuspid atresia
Truncus arteriosus
Total anomalous pulmonary venous return
Tetralogy of fallot
presentation of ToF
hypercyanotic tet spells and LOC
management of cyanotic heart diseases
prostaglandin to maintain the ductus arteriosis
continuous blowing below clavicle
venous hum
low pitched sound in left lower sterrnum
stills murmur
murmurs which vary with posture
ejection murmers
cause of ebstein anomaly
atrialisation of RV due to lithium use
cardiac abnormality in duchennes
dilated cardiomyopathy
most common age for croup
6-12m
2 treatments for croup
dexamathasone and nebulised adrenaline
benign cause of noisy breathing
laryngomalacia
CXR in transient tachypinea of the newborn
hyperinflation and fluid in the fissure
3 reasons to admit for bronchiolitis
RR above 60
Dehydration
50-70% reduction in fluid/oral intake
what are maternal DM, male, prematurity and c-section risk factors for
surfactant deficiency
Causes of meningitis in under 3m and over 3m
Under 3m: GBS, E.coli, Listeria
Over 3m: N meningitidis, S, pneumonia
(1m-6y also H. influenza)
Investigations in meningococcal septicaemia
NO LP
culture and viral PCR
ABx management of meningitis in under 3m and over 3m
Under 3m: IV amoxicillin and cefotaxmine
Over 3m: IV cefotaxime/ceftriaxone
Fever then rash with mild systemic upset
chicken pox
chicken pox + NSAIDS =
necrotising fascitis
prodrome of fever, irritability, conjunctivitis with koplik spots and a rash behind the ears which then spreads
measles
2 st and 1 lt complication of measles
st: otitis media and pneumonia
lt: encephalitis
fever, malaise, muscular pain and parotitis (pain on eating and earache)
mumps
complication of mumps (2)
pancreatitis and infertility
pink maculopapular rash on face spreading to body with lympadenopathy
rubella
lethargy, fever, headache and slapped cheek rash on face to arms
erythema infectiosum
virus causing slapped sheek
parvovirus b19
feverr, malaise, tonsillitis and strawberry tongue with fine punctate erythema which spares the mouth
scarlet fever
cause of scarlet fver
reaction to the toxin from group a strep
mils systemic upset, vesicles on the mouth, palms and soles
hand foot and mouth
virus causing hand foot and mouth
coksackie A19
fever then maculopapular rash that can cause febrile convulsitons
roseola infantum
virus causing roseola infantum
herpes 6
age for febrile convulsions
6m to 5y
cause of epiglottitis
Hib
example of an oral and live vaccine
rotavirus