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
most common cause of pneumonia in children
strep
abx treatment if suspected mycoplasma pneumonia
erythromycin
treatment of threadworm
single dose of mebendazole for whole family
no school exlcusion
treatment for threadworm
single dose of mebendazole for whole family
no school exclusion
5 day of fever with conjunctivitis, cracked lips, strawberry tongue, lymphadenopathy and peeling palms and soles
kawasaki disease
treatment for kawasaki
aspirin and IV ig
why do you need an ECHO in kawasaki
coronary artery aneurysm
school exclusion for scarlet fever
24 hours after starting abx (penv)
school exclusion for whooping cough
2 days after starting abx or 21 days from sx
abx = macrolide
school exclusion for measles
4 days from rash onset
school exclusion for rubella
5 days from rash onset
school exclusion for chicken pox
all lesions crusted (usually 5 days)
school exclusion for mumps
5 days from gland swelling
school exclusion for impetigo
lesions crusted/48 hours after abx
abx - hydrogen peroxide
school exclusion for scabies
until treated
school exclusion for influenza
until recovered
school exclusion for roseola infantum
no exclusion
viral infection followed by joint pain
transient synovitis
10-15 year old who is obese presenting with hip and groin pain and reduced internal rotation
SUFE
xray
4-8 years with worsening hip pain
Perthe’s
what is perthes
Avascular necrosis of the femoral head
treatment of perthes
x ray
under 6 observe
over 6 surgerry
are bow legs in a child under 3 normal
yes
child with an acute limp
urgent assessment for septic arthritis
what are the kocher criteria
to assess if pain is due to septic arthritis
1. non weight bearing
2. fever above 38.5
3. increased WCC
4. ESR
widening of the wrist joints with low calcium and phosphate but high ALP and PTH
rickets
4 classifications of cerebral palsy
spastic
dyskinetic
ataxic
mixed
damage to UMN causing hemi, di or quadraplegia
spastic cerebral palsy
damage to the basal ganglia or substantia nigra causing athetoid movements and oro-motor issues
dyskinetic cerebral palsy
damage to the cerebellum causing cerebellar signs
ataxic cerebral palsy
medication for spastic cerebral palsy
baclofen
repeated flexion of head/arms/trunk followed by extension of the arms
infantile spasms
partial seizures at night
benign rolandic epilepsy
seizures with a rapid recovery
reflex anoxic seizures
unilateral occipital flattening with protruding ear
plagiocephaly
improve by 3-5y
fever and RIF pain which can present atypically
actute appendicitis
urine dip in appendicitis
positive protein and leukocytes
central abdo pain after a viral URTI
MESENTERIC ADENITIS
management of mesenteric adenitis
self-limiting - conservative
abo distention with bilious vomiting and bilious stool with blood at 2w old
necrotising enterocilitis
RF for nec
prematurity and ABx use
management of NEC
xray showing free air and dilated bowels
total gut rest with TPN and broad spectrum abx
perforation requires laparotomy
abdominal distention, delayed meconium and bilious vomiting
Hirschsprungs disease
management of hirschsprungs
RECTAL BIOPSY and wash outs
what is hirschsprungs
absence of ganglion cells
abdo distention and delayed meconium 24-48 hours after birth
meconium ileus
RF for meconium ileus
cystic fibrosis
management of meconium ileus
PR contrast study which can dislodge the clot
NG N-acetylcysteine
surgical removal
bilious vomiting and obstruction with haemodynamic instability at 3-7 days
Intestinal malrotation
RF for intestinal malrotation
exomphalus, congenital diaphragmatic hernia and duodenal atresia
USS for intestinal malrotation
Whirlpool sign
management of intestinal malrotation
Ladd’s procedure
choking and cyanotic spells associated with polyhydramnios
oesophageal atresia
jaundice, reduced growth and feeds, pale stool, dark urine at 14 days
biliary atresia
bilirubin in biliary atresia
increased conjugated (cholestatic picture)
management of biliary atresia
urgent kasai procedure
bilious vomiting hours after birth
duodenal atresia
xray in duodenal atresia
double bubble sign
when does ilieal atresia present
24 hours after birth
management of ileal atresia
xray shows free air
laparotomy
projectile vomiting at 4-6w with a palpable mass
pyloric stenosis
2 investigations for pyloric stenosis
hypochloraemic hypokalaemic metabolic acidosis
USS
management of pyloric stenosis
ransted and pyloromyotomy
2 RF for pyloric stenosis
male and FHx
colicky pain with D+V, sausage shaped mass and red jelly stool at 6-9m
Intusussception
what is intussusception
telescoping bowel proximal to the ileocaecal valve
management of intissusception
reduction and air
number one cause of a painless massive GI bleed in 1-2 years
meckels diverticulum
management of meckels diverticulum
transfusion and technetium scan if stable
management of exomphalos
c-section and staged repair
RF for gastroscisis
socioeconomic deprivation (smoking, alcohol and materal age under 20)
difference between exomphalos and gastroscisis
gastroscisis is paraumbilical
exomphalos is umbilical
presentation and treatment of transient lactose intolerrance
common after viral gastroenteritis
remove lactose and slowly re-introduce
management of GORD
1-2w of alginate then 4w of PPI if reduced feeding and growth
management of CMPA
extensively hydrolysed formula
first line management of constipation
osmotic laxative (movicol)
then trial a senna
management of inguinal hernia in infants
immediate surgery
management of umbilical hernia
normally self resolve
no resolution then
- small and no sx: repair at 4-5y
- large and sx: repair at 2-3 y
red growth of umbilical tissue which is wet and leaking fluid
umbilical granuloma
jittery baby with increased tone, hyperreflexia, convulsions, drowsiness and coma
hypernatremic dehydration
feature of achondroplasia
trident hands
what is phimosis
non-retractable foreskin
self-resolve by 2y
management of enuresis
alarm then desmopressin
3 complications of undescended testes
infertility, torsion and cancer
management of unilateral undescended testicle
review at 3m and repair if persistenet
ventral urethral meatus and hooded prepuce
hypospadias
one contraindication to circumcision
hypospadias - use the foreskin in the repair
painless haematuria with painless palpable mass, reduced appetite and distended abdomen
Wilms tumour
6 indications of an atypical UTI
reduced urine flow, mass, increased creatinine, non E coli, septic or no abx response
investigation for reflex nephropathy
micturating cystography
scan for vesicoureteral reflux
DMSA scan
UTI in less than 3m
refer
management of UTI
3 day abx
association with cystic fibrosis
diabetes mellitus
hepatosplenomegaly with bruising and anaemia
ALL
age ALL peaks
2-5y
condition associated with ALL
downs
poor prognostic indicator in ALL
male
signs of anaemia in ALL
soft systolic murmur and SOB
presentation of ITP
isolated thrombocytopenia preceded by viral illness with fever and pectichae
schistocytes on blood film
ITP
treatment of ITP
conservative
anaemia in alpha thalassemia
hypochromic microcytic anaemia
3 types of alpha thalassemia
1/2 alleles: anaemia with normal hb
3 alleles: anaemia with splenomegaly
4 alleles: death in utero (hydrops fetalis)
what is hydrops fetalis
oedema in foetus
what is alpha thalassemia
reduction in alpha chains
normal puberty in males
testicular growth at 10-15y
growth spurt at 14y
normal puberty in females
breast development at 9-13y
growth spurt at 12y
menarche at 11-15y
define precocious puberty
secondary sexual characteristics before 8y in girls and 9y in boys
management of children below the 0.4th centile
refer
medication for ADHD
methylphenidate - monitor growth
consent for sex
under 13 no consent
triad in shaken baby syndrome
retinal haemorrhages
subdural haematoma
encephalopathy
3 main fractures in abuse
radial
humeral
femoral
eczema in 10m
face and trunk
what is cradle cap and how does it present
seborrheic dermatitis
red rash with yellow flakes
presentation and treatment of pityriasis rosea
pink/red scaly patches on abdomen
self-limiting
presentation and treatment of pityriasis versicolour
fungal infection from the sub
ketonozole
nappy rash candida or dermatitis
flexors spared: dermatitis
flexors affected: candida
overview the causes of precocious puberty