paediatrics Flashcards
For a child born in the United Kingdom, at what age would their hearing first be formally assessed?
newborn - otoacoustic emission
pyloric stenosis presentation
3-6 wks
projectile, non-bilious vomiting
hunger between episodes
olive mass
ix pyloric stenosis
USS = thickened pylorus
what would gas show in pyloric stenosis
hypochoraemic hypokalaemic metabolic alkalosis
tx pyloric stenosis
Rhamsteds op - laproscopic pyloromyotomy
what is hirchsprungs
lack of nerve fibres in part of the gut (aganglionic myeteric plexus)
presentation of hirchsprungs
just born
failure to pass meconium
ix hirchsprungs
full thickness rectal biopsy
tx hirchsprungs
anorectal pull through procedure = SWENSON
(after rectal washouts)
what is meckel’s diverticulum
an outpouching or bulge in the lower part of the small intestine
The bulge is congenital and is a leftover of the umbilical cord.
presentation meckel’s diverticulum
1-2 yrs
bright red GI bleeding
ix meckel’s diverticulum
technetium scan
tx meckel’s diverticulum
wedge excision surgery if sx
mesenteric adenitis presentation
central abdo pain + URTI
mesenteric adenitis tx
conservative
what is mesenteric adenitis
swollen lymph glands in abdo
presentation cystic fibrosis
meconium ileus
bilious vomiting
abdo distension
presentation intussusception
6-9 months
sausage shaped mass (RUQ?)
red current jelly stool (late sign)
vomiting (bilious if obstruction)
knees up to chest - colicky pain
ix intussusception
USS abdo - doughnut/target sign
tx intussusception
rectal air enema / insufflation
duodenal atresia presentation
congenital
Downs
polyhydramnios
bilious vomiting
ix duodenal atresia
abdo XR = double bubble
tx duodenal atresia
duodenoduodenostomy surgery
presentation biliary atresia
jaundice >14 days
pale stools, dark urine
in neonates
ix biliary atresia
increased conjugated bilirubin
tx biliary atresia
kasai procedure
presentation oesophageal atresia
tracheo-oesophageal fistula + polyhydramnios
choking and cyanotic spells following aspiration
presentation disphragmatic hernia
resp distress after birth
bowel sounds tinkling in lung fields
assoc w pulmonary hypoplasia
tx diaphragmatic hernia
NG tube
intubate + ventilate
surgery
presentation intestinal malrotation
high caecum at the midline
volvulus in first few days of life leading to bile stained vomiting
ix intestinal malrotation
upper GI contrast study + USS
tx intestinal malrotation
laparotomy
Ladd’s procedure
presentation necrotising enterocolitis (NEC)
bilious vomiting
distended abdo
bloody stools
x feeds
unwell
ix necrotising enterocolitis (NEC)
supine abdo x ray = gas in bowel wall (pneumatosis intestinalis) , dilated bowel loops, wall oedema
tx necrotising enterocolitis (NEC)
NBM
laparotomy
cefotaxime whilst waiting
presentation of slipped upper femoral epiphysis (SUFE)
8-15 yrs
fat boy, growth spurt
exaggerated pain (from small trauma)
prefers external rotation
ix slipped upper femoral epiphysis (SUFE)
XR (front leg view)
tx slipped upper femoral epiphysis (SUFE)
surgery
inheritance of duchennes muscular dystrophy
x-linked recessive
presentation duchennes muscular dystrophy
boys 3-5yrs
weakness in pelvic muscles
progressive to all muscles
GOWERS SIGN - The child assumes the hands-and-knees position and then climbs to a stand by “walking” his hands progressively up his shins, knees, and thighs.
wheelchair by teens
LE 23-35 yrs
tx duchennes muscular dystrophy
oral steroid
creatinine supplements
septic arthritis presentation
hot, painful joint
systemic sx
x weight bear
decreased ROM
fever > 38.5
increased inflam markers
septic arthritis tx
aspirate
abx
presentation transient synovitis
3-10 yrs
needs urgent assessment
recent URTI
joint pain after this
otherwise well
ix transient synovitis
joint aspirate under US guidance
tx transient synovitis
analgesia
safety net
RFs developmental dysplasia of the hip (DDH)
breech
FHx
First born
oligohydramnios
>5kg
foot def
presentation Developmental dysplasia of the hip (DDH)
barlows and ortolani
unstable, dislocates easily
hip asymmetry, decreased range of movement, limp
ix Developmental dysplasia of the hip (DDH)
USS
tx Developmental dysplasia of the hip (DDH)
pavlik harness < 6 months
surgery
perthes disease presentation
5-8 yrs boys
pain - slow onset
- hip + referred to knee
limp
decreased range of movement
no trauma hx
what is perthes disease
avascular necrosis of the femoral head
ix perthes disease
XR = decreased joint space and decreased size of femoral head
early disease can be missed -> MRI
tx perthes disease
observation if < 6 yrs
older - surgery?
what do you give for meningitis >3 months old
IV ceftriaxone
what do you give for meningitis < 3 months old
IV cefotaxime + amoxicillin (to cover listeria)
what do you give for meningitis prophylaxis for close contacts
ciprofloxacin tablet single dose
pink rash with swinging fever
JIA
what is screened on the newborn blood spot test
sickle cell disease
cystic fibrosis
congenital hypothyroidism
inherited metabolic diseases
severe combined immunodeficiency - sometimes
inheritance of congenital adrenal hyperplasia
AR
what is congenital adrenal hyperplasia
deficiency of 21-hydroxylase
leading to underproduction of cortisol + aldosterone and overproduction of adrogens (testosterone)
electrolyte imbalances in severe congenital adrenal hyperplasia and what does that lead to
hyponatraemia
hyperkalaemia
(as there is deficiency of aldosterone which is needed to cause Na to be retained and K to be excreted)
hypoglycaemia
- poor feeding
- vomiting
- dehydration
- arrythmias
- collapse
how to females w CAH present at birth
virilised genetalia
enlarged clitoris
mild CAH presentation in F
Tall for their age
Facial hair
Absent periods
Deep voice
Early puberty
skin hyperpigmentation (due to increased ACTH trying to increase cortisol but a byproduct is melanocyte stim hormone)
mild CAH presentation in M
Tall for their age
Deep voice
Large penis
SMALL testicles
Early puberty
skin hyperpigmentation
mx of CAH
Cortisol replacement, usually with hydrocortisone, similar to treatment for adrenal insufficiency
Aldosterone replacement, usually with fludrocortisone
Female patients with “virilised” genitals may require corrective surgery
presentation of croup
barking cough
stridor (as URTI)
low fever
hoarse voice
increased work of breathing
what causes croup
PARAINFLUENZA
tx croup
oral dexamethasone
single dose
emergency croup tx
high-flow oxygen
nebulised adrenaline
what causes bronchiolitis
Respiratory syncytial virus (RSV)
presentation of bronchiolitis
winter
<6 months old
ex-prem < 2yrs
wheeze (LRTI)
crackles
resp dis
URTI 1st? - coryzal sx
when to admit px w bronchiolitis
< 3 months
pre-existing condition - premature, downs, CF, congenital HD
< 50-75% normal milk intake
dehydration
RR > 70
sats < 92%
mod-severe resp distress
apnoeas
under-confident parents
what is given as prevention of bronchiolitis and who to
monthly palivizumab injection
to high risk babies - ex-prem, HD
what is CF + what is its inheritance
Condition affecting mucus glands
Caused by a genetic mutation of the CF gene on chromosome 7. Most common variant is the delta-F508 mutation. This gene codes for cellular channels, particularly a type of chloride channel.
AR
key consequences of CF gene mutation
Thick pancreatic and biliary secretions that cause blockage of the ducts -> lack of digestive enzymes such as pancreatic lipase in the digestive tract
Low volume thick airway secretions that reduce airway clearance -> bacterial colonisation and susceptibility to airway infections
Congenital bilateral absence of the vas deferens in males. Patients generally have healthy sperm, but the sperm have no way of getting from the testes to the ejaculate -> male infertility
first sign of CF
meconium ileus - abdo dis + vomiting
symptoms of CF
Chronic cough
Thick sputum production
Recurrent RTIs
Loose, greasy stools (steatorrhoea) due to a lack of fat digesting lipase enzymes
Abdominal pain and bloating
Parents may report the child tastes particularly salty when they kiss them, due to the concentrated salt in the sweat
Poor weight and height gain (failure to thrive)
pancreatitis
signs of CF
Low weight or height on growth charts
Nasal polyps
Finger clubbing
Crackles and wheezes on auscultation
Abdominal distention
CF dx
Newborn blood spot testing
The sweat test is the gold standard for diagnosis - high Cl conc
Genetic testing for CFTR gene can be performed during pregnancy by amniocentesis or chorionic villous sampling, or as a blood test after birth
how do px w CF prevent s. aureus infections
take long term prophylactic flucloxacillin
hardest coloniser to get rid of in CF
Pseudomonas Aeruginosa
murmur in ventricular septal defect (VSD)
pan systolic at left sternal edge
systolic thrill on palpation
what are VSDs assoc w
downs
turners
sx of VSD
poor feeding
dyspnoea
tachypnoea
failure to thrive
tx of VSD
small - watch
transvenous catheter closure via femoral vein / open heart surgery
there is an increased risk of infective endocarditis - abx proph in surgeries
when do you dx pyelonephritis
A temperature greater than 38°C or
Loin pain or tenderness
sx of UTI in babies
Fever
Lethargy
Irritability
Vomiting
Poor feeding
Urinary frequency
sx of UTI in older children
Fever
Abdominal pain, particularly suprapubic pain
Vomiting
Dysuria (painful urination)
Urinary frequency
Incontinence
ix UTI
clean catch urine dipstick
- nitrites (bacteria break down nitrates into this)
- leukocytes
both = UTI
nitrites = UTI
just leukoctyes = no UTI
if either are present send to microbio lab
< 3 months with fever
IV abx
full septic screen
consider LP
UTI > 3 months
oral abx if otherwise well
usually:
trimethoprim
nitrofuratoin
cefalexin
amoxicillin
when to do USS in UTI
- < 6 months with their first UTI. Do within 6 weeks, during if recurrent / atypical bacteria
- recurrent UTIs - within 6 weeks
- atypical UTIs - during the illness
how to assess damage from recurrent UTIs
DMSA scan 4-6 months after illness
what is Vesico-Ureteric Reflux (VUR)
where urine has a tendency to flow from the bladder back into the ureters. This predisposes patients to developing upper urinary tract infections and subsequent renal scarring
how is VUR dx
micturating cystourethrogram (MCUG
when to do MCUG
used to investigate atypical or recurrent UTIs in children under 6 months
It is also used where there is:
- a family history of vesico-ureteric reflux
- dilatation of the ureter on ultrasound
- poor urinary flow
nephrotic syndrome triad
Low serum albumin
High urine protein content (>3+ protein on urine dipstick)
Oedema
other features of nephrotic syndrome
Deranged lipid profile, with high levels of cholesterol, triglycerides and low density lipoproteins
High blood pressure
Hyper-coagulability, with an increased tendency to form blood clots
most common cause of nephrotic syndrome
minimal change disease
mx of nephrotic syndrome
high dose steroids - pred - for 4 wks then ween
low salt diet
diuretics
albumin infusions
abx proph
what to use in steroid resistance children w nephrotic syndrome
ACE inhibitors and immunosuppressants such as cyclosporine, tacrolimus or rituximab
EEG in absence seizure
3-hertz spike + wave discharges
tx of absence seizure
ethosuximide
what triggers myoclonic juvenile jerk
lack of sleep
what is strabismus
misaligned eyes
what is amblyopia
affected eye is passive + decreases in func compared to dominant eye
what is hypertropia
upward moving affected eye
what is hypotropia
downward moving affected eye
what is exotropia
outward position squint
what is esotropia
inward position squint
what to do if child develops new squint
CT head
what is whooping cough caused by
bordetella pertussis
tx of whooping cough
admit if < 6 months
oral macrolide (within 21 days) - clarihtromycin/azithromycin/erythromycin
what is epiglottitis caused by
h. influenza
tx epiglottitis
IV cefotaxime
XR epiglottitis
thumb sign
neonatal hypoglycaemia is when there is a level of
< 2.6 mmol/L
what can neonatal hypoglycaemia be caused by
preterm birth (< 37 weeks)
maternal diabetes mellitus
IUGR
hypothermia
neonatal sepsis
inborn errors of metabolism
nesidioblastosis
Beckwith-Wiedemann syndrome
features of neonatal hypoglycaemia
may be asymptomatic
autonomic (hypoglycaemia → changes in neural sympathetic discharge)
- ‘jitteriness’
- irritable
- tachypnoea
- pallor
neuroglycopenic
- poor feeding/sucking
- weak cry
- drowsy
- hypotonia
- seizures
other features may include
- apnoea
- hypothermia
neonatal hypoglycaemia tx
asymptomatic
- encourage normal feeding (breast or bottle)
- monitor blood glucose
symptomatic or very low blood glucose
- admit to the neonatal unit
- intravenous infusion of 10% dextrose
when is hand preferenece abnormal
before 12 months
which childhood infections are notifiable
measles
scarlett fever
rubella
measles presentation
KOPLIC spots - grey in cheek
rash = head + neck -> rest of body
may get conjunctivitis
coryzal sz b4
complication of measles
otitis media
when can you go to school w measles
4 days after rash
tx measles
supportive
what causes roseola
Human herpes virus 6
roseola features
high fever that starts suddenly
RASH after fever
- rose-pink macules w surrounding pale halo
- trunk then limbs
simple febrile seizures
what causes hand foot + mouth disease
cocksacki A16
hand foot + mouth features
blisters on hands + feet
ulcerations on tongue
fever + cold sx
mx hand foot + mouth
supportive
what causes impetigo
staph aureus
impetigo features
pupuric rash w discrete patches w golden crusts
fevers
impetigo tx
topical fusidic acid
might need oral flucloxacillin if widespread or severe
when to go to school w impetigo
48 hrs after abx
or until all lesions have healed
5 features of Kawasaki disease
high fever 5 + days
strawberry tongue
cervical lymphadenopathy
bilateral conjunctivitis
swelling/erythema of extremities
ix in kawasaki
FBC = anaemia, leukocytosis and thrombocytosis
LFTs = hypoalbuminemia + elevated liver enzymes
Inflammatory markers (particularly ESR) are raised
Urinalysis = WBCs without infection
ECHO to check coronary artery
tx kawasaki
high dose aspirin
IV immunoglobulins
why do you usually avoid aspirin in children
risk of Reye’s syndrome
what causes chicken pox
VZV <- human herpes virus 3
chicken pox features
prodrome of viral sx - fever + lethargy
vesicular rash - crusts + forms blisters
incubation for chicken pox
3 wks
when can you go to school w chicken pox
after all lesions have crusted over
rubella features
rash starts on head + spreads to trunk
low grade fever
postauricular lymphadenopathy
when can you go to school w rubella
5 days from rash
HSP features
often triggered by an upper airway infection or gastroenteritis
purpuric rash on legs + buttocks
sore joints
nephritis
abdo pain
features of parovirus B19 / fifths disease / slapped cheek syndrome
red cheeks
fever
cold sx
lace-like rash - once they have this they are no longer infectious
tx of parovirus B19 / fifths disease / slapped cheek syndrome
supportive - para / ibu
features of scarlett fever
strawberry tongue - peri-oral sparing
sandpaper rash
fever
what causes scarlett fever
group A strep - strep pyrogens
tx scarlett fever
10 days phenoxymethylpenicillin
when can you go to school w scarlett fever
24 hrs from abx
what is turner’s syndrome
45 XO
FEMALES
features of turners
delayed puberty - primary amenorrhoea
webbed neck
wide nipples
short
spoon nails
otitis media
bicuspid aortic valve (ejection systolic murmur)
aortic coarctation
features of noonan’s + its inheritance
AD
thought of as male turners
webbed neck
pectus excavatum
pulmonary stenosis (ejection systolic)
pulmoNOONanary
what is Patau syndrome
trisomy 13
features of Patau syndrome
small eyes
cleft Palate / lip
Polydactyly
(does not usually survive)
features of pierre-robin
posterior displacement of tongue (you’re ROBIN’ me of my airway!)
cleft palate
Micrognathia (undersized lower jaw)
what is Edward’s syndrome
trisomy 18
features of Edward’s syndrome
low set ears
rock bottomed feet
overlapping fingers
small jaw
features of fragile X
features in males: (females will have one fragile chromosome + one normal so may present more normally)
long face
large ears
large testes
learning diff
autism more common
mitral valve prolapse
what is fragile X
trinucleotide repeat disorder
features of prader-willi
fat
hypotonia
hypogonadism
features of cri du chat
Characteristic cry due to larynx and neurological problems
feeding diff
learning diff
long distance between eyes
what is cri du chat
chromosome 5p deletion syndrome
features of William’s syndrome
friendly
elfin facies
learning diff
hypercalcaemia
supravalvular aortic stenosis
what is William’s syndrome
inherited neurodevelopmental disorder caused by a microdeletion on chromosome 7
most common cause of neonatal sepsis
maternal group B strep infection
most common fractures seen in child abuse
- Radial
- Humeral
- Femoral
how does IgA nephropathy present
macroscopic haematuria in young people following an upper respiratory tract infection
what is a nephroblastoma (wilms tumour) + how does it present
most common paeds renal cancer
presents in first 4 yrs of life
a mass associated with haematuria
Often metastasise early (usually to lung)
Treated by nephrectomy
Androgen insensitivity syndrome inheritance
X-linked recessive
what is androgen insensitivity syndrome
end organ resistance to testosterone
genotypically MALE children (46XY) but with FEMALE phenotype
features of androgen insensitivity syndrome
primary amenorrhoea
undescended testes causing groin swellings
breast dev may occur as a result of conversion of testosterone to oestradiol
mx androgen insensitivity syndrome
counselling - raise child as female
bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)
oestrogen therapy
what is kallman’s syndrome
genetic condition causing of delayed puberty 2ndary to hypogonadotrophic hypogonadism (prob w pituitary)
kallman’s syndrome inheritance
X-linked recessive
what is hypogonadism
lack of the sex hormones, oestrogen and testosterone
either due to hypogonadotrophic hypogonadism or hypergonadotrophic hypogonadism
what is hypogonadotrophic hypogonadism
deficiency of LH and FSH, leading to a deficiency of the sex hormones testosterone and oestrogen
a result of abnormal func of the hypothalamus or pituitary
what is hypergonadotrophic hypogonadism
where the gonads fail to respond to stimulation from the gonadotrophins (LH and FSH)
no -ve feedbacl so get increasing amounts of FSH + LH
features of kallman’s syndrome
boy
‘delayed puberty’
hypogonadism, cryptorchidism
anosmia (LACK OF SMELL)
sex hormone levels are low
LH, FSH levels are inappropriately low/normal
patients are typically of normal or above average height
what is klinefelter’s syndrome
47, XXY
Primary hypogonadism
features of klinefelter’s syndrome
often taller than average
lack of secondary sexual characteristics
small, firm testes
infertile
gynaecomastia - increased incidence of breast cancer
elevated gonadotrophin levels
examination w PDA
left subclavicular thrill
continuous ‘machinery’ murmur
large volume, bounding, collapsing pulse
wide pulse pressure
heaving apex beat
what is PDA
congenital heart defect
connection between the pulmonary trunk and descending aorta
usually, the ductus arteriosus closes with the first breaths due to increased pulmonary flow which enhances prostaglandins (which keep the duct open) clearance
more common in premature babies, born at high altitude or maternal rubella infection in the first trimester
mx PDA
indomethacin or ibuprofen
- given to the neonate
- inhibits prostaglandin synthesis
- closes the connection in the majority of cases
RFs for neonatal sepsis
Mother who has had a prev baby with GBS infection, who has current GBS colonisation from prenatal screening, current bacteruria, intrapartum temperature ≥38ºC, membrane rupture ≥18 hours, or current infection throughout pregnancy
Premature (<37 weeks): approximately 85% of neonatal sepsis cases are in premature neonates
Low birth weight (<2.5kg): approximately 80% are low birth weight
Evidence of maternal chorioamnionitis
features in tetralogy of fallot
Ventricular septal defect (VSD)
Overriding aorta
Pulmonary valve stenosis
Right ventricular hypertrophy
RFs tetralogy of fallot
Rubella infection
Increased age of the mother (over 40 years)
Alcohol consumption in pregnancy
Diabetic mother
s+s tetrallogy of fallot
Cyanosis (blue discolouration of the skin due to low oxygen saturations)
Clubbing
Poor feeding
Poor weight gain
Ejection systolic murmur heard loudest in the pulmonary area (second intercostal space, left sternal border)
“Tet spells”
when does a baby smile responsively
6-8 wks
when does a baby raise head to 45 deg prone
6-8 wks
when does a baby follow a moving object/face
6-8 wks
what is the limit for a baby to sit up
9 mths
what is the limit for a baby to transfer objects between hands
9 mths
what is the limit for mature pincer grip
12 mths
what is the limit for walking
18 mths
vaccine schedule
2m - 6in1, rotavirus, Men B
3m - 6in1, rotavirus, PCV
4m - 6in1, Men B
1yr - MMR, PCV, Men B, 2in1
3-4yrs - MMR, 4in1
12yrs - HPV
13-14yrs - 3in1, Men ACWY
2-8 yrs annual flu vaccine
what is in the 6in1 vaccine + when do you get it
diptheria
tetnus
polio
pertussis
Hib
Hep B
2, 3, 4 months
what is in the 2in1 vaccine + when do you get it
Hib, Men C
1yr
what is in the 4in1 vaccine + when do you get it
diptheria
tetnus
polio
pertussis
3-4yrs
what is haemolytic disease of the newborn
immune condition that develops when a rhesus -ve mother becomes sensitised to the rhesus +ve blood cells of her baby whilst in utero
pre-delivery features of haemolytic disease of the newborn
hydrops foetalis - fetal oedema in at least 2 compartments (pericardial effusion, pleural effusion, ascites)
yellow coloured amniotic fluid
post delivery features of haemolytic disease of the newborn
jaundice + kernicterus
foetal anaemia
hepato/splenomegaly
severe oedema
what is Epstein’s pearl
congenital cyst found in the mouth found in posterior hard palate
no tx, spontan resolve
what are Bohn’s nodules
smooth white cysts found on the gums
what is gastroschisis
a congenital defect in the anterior abdominal wall just lateral to the umbilical cord
(no peritoneal covering)
what is exomphalos (omphalocoele)
the abdominal contents protrude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum
mx of exomphalos (omphalocoele)
c section is indicated to reduce the risk of sac rupture
a staged repair as primary closure may be difficult due to lack of space/high intra-abdominal pressure, need to allow lung adaptation
mx gastroschisis
surgical correction ASAP
- cover with cling-film(since no peritoneal covering)
components of feverPAIN score
fever in last 24 hrs
Pus/Purulent tonsils
Attended </= 3 days
Inflammation
No cough
choice of tx based on feverPAIN score
0-1 = no abx
2-3 = 3 day back up prescription
4+ = abx
(higher likelihood of being steptococci)
if antibiotics are indicated then either phenoxymethylpenicillin or erythromycin (if the patient is penicillin allergic) should be given. Either a 7 or 10 day course should be given
indications for tonsillectomy
7 eps 1 yr
5 eps in the prev 2 yrs each
3 eps a yr for 3 yrs
diet advice for CF
High calorie and high fat with pancreatic enzyme supplementation for every meal
what to give for neonatal abstinence syndrome (NAS) w non-opiates?
phenobarbital
threadworm bacteria
Enterobius vermicularis
threadworm tx
mebendazole (an anthelmintic ) single dose for all the household alongside hygiene measures
