1 Flashcards
hallmarks of autism
- language/communication impairment
- social impairment
- ritualistic and compulsive behaviours
hallmarks of ADHD
- inattention
- impulsivity
- hyperactivity
affecting daily function (as all children will show these behaviours on occasion)
treatment of ADHD
- supportive + education
- methylphenidate (last resort, only in 5+yrs)
> monitor height + weight in children every 6 months to check for stunted growth
conditions associated with autism
- ADHD
- OCD
- developmental disorders + prematurity
- epilepsy
- fragile X
- tuberous sclerosis
conditions associated with ADHD
- prematurity
- fetal alcohol syndrome
- NF1
causes of pneumonia in neonates
- GBS
- gram neg, eg. e coli, klebsiella
causes of pneumonia in infants/young children
- RSV
- strep pneum
- haemophilus influenzae
- staph aureus
causes of pneumonia in older children/adolescents
- strep pneum
- mycoplasma pneum
- staph aureus
causes of meningitis in neonates
- GBS
- gram neg (eg. klebsiella, e. coli)
- listeria monocytogenes
- HSV
causes of meningitis in infants/children/adolescents
- neisseria meningitidis
- strep pneum
- haemophilus influenzae
- HSV
management of meningitis
- supportive
- primary care = benzylpen and urgent hospital
- in children <3 months = cefotaxime (+ amoxicillin to cover listeria)
- in children >3 months = ceftriaxone (+ steroids may prevent complications)
- public health notification
causes of bronchiolitis
- RSV
- mycoplasma
- adenovirus
more dangerous in children with CF/congen HD/prematurity
features of bronchiolitis
- coryza
- dry cough
- SOB
- feeding problems
- low grade fever
mx of bronchiolitis
- supportive
if severe = ICU for CPAP
possibility of secondary bacterial infection
causes of croup and epiglottitis
croup = parainfluenza virus epiglottitis = HiB
features of croup
6mo-3yrs
- audible stridor
- barking cough (worse at night)
- fever
- coryza
croup management
hospital if mod/sev croup, <6 mo or known URT abnormality
- supportive
- PO dexamethasone (regardless of severity)
- high flow O2 and neblised adrenaline in mod/sev
features of epiglottitis
- rapid onset
- toxic child
- stridor
- drooling
mx of epiglottitis
DON’T INVESTIGATE THROAT/CAUSE CHILD DISTRESS
- humidified O2
- nebulised noradrenaline
- IV Abx (cefotax/ceftriax) once airway secured
- paediatriac ENT consult
risk of long term ICS use
- adrenal suppression
- growth suppression (but does not affect adult height)
features of CF
newborn - meconeum ileus - prolonged jaundice then - recurrent chest infections - malabsorption (steatorrhoea/failure to thrive) - DM - liver disease - stunted growth - delayed growth/infertility
otitis media causative organisms
viral - RSV - rhinovirus bac - strep pneum - haemophilus influenzae
laryngomalacia features
- stridor due to soft larynx
- more pronounced on feeding + exertion
- worse on lying down
- recessions/work of breathing
- omega sign on nasendoscopy of epiglottis
normally self-limiting, if severe = surgery
atrial septal defect features
- split S2
- ejection systolic murmur in pul region
ventricular septal defect features
- poor feeding
- tachypnoea
- pansystolic murmur at LLSE
patent ductus arteriosus features
- poor feeding
- tachypnoea
- continuous machinery murmur
coarctation of aorta features
- weak/absent femoral pulses compared to brachial
- ejection systolic murmur
- surgery required
pulmonary stenosis features
ejection systolic murmur in pul region and radiates to back
tetralogy of fallot
1) . pulmonary stenosis
2) . VSD
3) . RV hypertrophy
4) . overriding aorta
- cyanosis
- acidosis
- collapse/death
ebstein abnormality
low insertion of tricuspid, leading to large RA and small RV
- link to in-utero lithium
- tricuspid regurg
classification of hearing loss
- mild = 20-40dB loss = hears a convo in quiet room without background noise
- mod = 41-70dB loss = hearing aids allow to hear convo in quiet room without background noise
- sev = 71-95dB loss = hearing aids required to hear convo in quiet room with no background noise
- profound = 96dB+ loss = hearing aids/cochlear implants but would need support with background noise
West syndrome features
triad of
- seizure activity
- hypsarrhythmia on EEG
- developmental delay/mental retardation
Lennox-Gastaut features
mix of seizure types, commonly: - atypical absences - drop attacks (astatic) - tonic seizures usually have mod/sev developmental/mental handicap
Lennox-Gastaut Mx
poor prognosis
- supportive
- antiepileptics rarely provide benefit
- ketogenic diet linked with benefit
features of benign rolandic epilepsy/childhood epilepsy with centro-temporal waves
most common childhood epilepsy
- usually outgrown by puberty
- NO developmental delay
- focal seizures
> paraesthesia of area of face typically when waking up (may affect face/lips/throat/tongue and is described as “tingly/fuzzy/bubbly”)
> may experience focal stiffness/twitching
management of benign rolandic/childhood epilepsy with centro-temporal waves
usually no treatment required as it is self-limiting + not dangerous
if troublesome, can start on carbamazepine (as is focal)
features of juvenile myoclonic epilepsy/Janz syndrome
onset in teenage years
- infrequent generalised seizures (often in morning)
- daytime absences
- sudden myoclonic seizures
Mx of juvenile myoclonic epilepsy/Janz syndrome
sodium valproate (as is generalised)
seizures in neonates
- benign neonatal convulsions
- pyridoxine deficiency (give vit B6)
Mx for amblyopia (lazy eye)
- refractive adaptation with glasses
- occlusion of better eye with patch
- atropine drops in better eye
Mx for strabismus
- surgery
- refractive adaptation with glasses
- occlusion of better eye with patch
- atropine drops in better eye
examples of autosomal dominant conditions
- polycystic kidney disease (ADPKD)
- Marfan’s syndrome
- Huntington’s disease
- BRCA1/2
- tuberous sclerosis
examples of autosomal recessive conditions
- CF
- sickle cell
- haemochromatosis
examples of X linked
- Duchenne’s/Becker’s muscular dystrophy
- Fragile X
- red-green colour blindness
- haemophilia A/B
examples of mitochondrial inheritance conditions
- MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes)
- MERRF (myoclonic epilepsy, ragged red fibres)
- mitochondrially-inherited DM and deafness
genomic imprinting examples
- Angelmans syndrome
- Prader-willi
Angelmans syndrome
due to deletion on chromo 15 (maternal)
- microencephaly + mental retardation
- unprovoked laughing/clapping (happy puppet)
- seizures
- gait ataxia
Prader-Willi syndrome
deletion on chromo 15 (paternal)
- neonatal hypotonia
- poor feeding
- moderate mental retardation
- hyperphagia + obesity
- small genitalia + infertility
Turner’s syndrome
45, XO
- short stature
- webbed neck
- primary amenorrhoea
- link to autoimmune conditions, especially hypothyroid later in life
- horseshoe kidney
Williams syndrome
- elf-like features facially
- friendly + social affect
- learning difficulties
- short stature
Patau’s syndrome
trisomy 13 - microcephaly - small eyes - cleft lip/palate - polydactyly poor prognosis
Edward’s syndrome
trisomy 18 - micrognathia (small jaw) - low set ears - rocker bottom feet poor prognosis
Down’s syndrome
trisomy 21
- flat and round face with protruding tongue
- single palmar crease
- sandal gap in feet
- congenital heart defects in 50%
- subfertility
- recurrent chest infections
Klinefelter’s syndrome
47, XXY
- tall stature
- lack of secondary sex characteristics
- small testes
- infertile
- gynaecomastia
- increased gonadotrophin but decreased testosterone
kawasaki disease features
vasculitic condition
- high grade fever (>5 days)
- conjunctival injection
- red cracked lips
- strawberry tongue
- cervical lymphadenopathy
- red palms and soles of feet, which peel
management of kawasaki
- high dose aspirin (usually avoided due to Reye’s syndrome risk)
- IV immunoglobulin
- monitor heart with echocardiogram for coronary aneurysms
measles features
caused by RNA paramyxovirus
- CCCK (cough, coryza, conjunctivitis, koplik spots)
- fever
- rash - starting behind ears
chickenpox features
primary VZV infection
- fever
- itchy rash (macular then papular then vesicular), starting on head/trunk
- mild systemic illness
management of chickenpox
- supportive
- trim nails
- calamine lotion
- VZV immunoglobulin in immunocompromised/neonates (IV aciclovir if develop symptoms)
features of rubella
togavirus - fever - rash starting on face - lymphadenopathy harmful in utero
features of diphtheria
corynebacterium diphtheriae, spread by droplets
- thick white coating at back of throat
- fever
- dysphagia and sore throat
- lymphadenopathy
mx of diphtheria
- supportive
- Abx - IM penicillin
- diphtheria anti-toxin in severe cases
- notify PHE
features of scalded skin syndrome
staph aureus toxin causes exfoliative lesions
- patchy, painful, exfoliative rash
- fever
- toxic child
mx of scalded skin syndrome
- hospitalisation for IV flucloxacillin (clindamycin if allergy)
- supportive (hydration/cleaning)
- pain relief
- moisturising emolients
features of whooping cough
bordatella pertussis
- coryza in prodrome
- coughing bouts
> worse at night
> worse after feeding
> inspiratory whoop
- spells of apnoea
lasts 10-14 WEEKSMx of whooping cough
- <6 mo admitted to hospital
- PO clarithromycin (household contacts offered prophylaxis)
- notify PHE
features of erythema infectiosum (slapped cheek syndrome)
parvovirus B19 spread by droplets
- fever
- slapped cheek rash, spreads to proximal arms and extensor surfaces
- may return after hot bath/fever/hot weather
features of scarlet fever
strep pyogenes toxin spread by droplets
- shortlived fever (1-2 days)
- strawberry tongue
- N+V
- sore throat
- rough, punctuate rash starting on torso, spreading to arms and legs
Mx of scarlet fever
- supportive
- PO penicillin V (10 days) - school exclusion until 24hrs after commencement
- notify PHE
features of hand foot and mouth disease
coxsackie A16 virus
- self-limiting
- fever
- sore throat
- oral ulcers
- palm/sole vesicles follow ulcers
impetigo features
skin infection due to staph aureus/strep pyogenes, either primary or secondary to skin condition, eg. eczema
- typically face, limbs, flexion points
- golden crusted skin lesions
- very contagious
Mx of impetigo
- hydrogen peroxide 1% cream
- PO flucloxacillin in extensive disease
school exclusion until lesions crusted/48hrs after Abx started
nappy rash causes
irritant dermatitis = treat with mild steroid cream
- crease sparing
candida dermatitis = treat with topical clotrimazole
- involves creases
fluids maintenance (non-neonates)
Maintenance:
- 9% NaCl + 5% glucose (+/-KCl)
- first 10kg = 100ml
- next 10kg = 50ml
- further kgs = 20ml/kg
neonates fluid maintenance
day 1 = 60ml/kg/day day 2 = 90ml/kg/day day 3 = 120ml/kg/day day 4 = 150ml/kg/day 10% glucose
fluid deficit calcs
% deficit x 10 x weight = deficit fluids in ml/kg/day
weight estimation by age
(age + 4) x 2 = weight in kg
bolus values
normally a bolus of 20ml/kg, reduced to 10ml/kg in:
- trauma
- DKA
alport’s syndrome
X linked
- haematuria
- progressive renal failure
- bilateral sensorineural deafness
- lenticonus
vesicoureteric reflux
abnormal backflow of urine from the bladder into the ureter and kidney
- predisposes to urinary tract infection
- diagnosis with micturating cystourethrogram
RFs for GORD
- prematurity
- neuro impairment
- oesophageal atresia/pyloric stenosis/diaphragmatic hernia
- CF
symptoms of GORD (INFANT)
- excess posseting/regurg
- difficulty feeding
- difficulty lying flat/sleeping
- dyspnoea
symptoms of GORD (CHILD)
- recurrent vomiting
- dysphagia/refusing food
- chest/abdo burning pain
- nocturnal cough/wheeze
mx of GORD
- calculate feed requirements - 150 mL/kg body weight over 24 hours (rule out overfeeding)
- reassurance
> thicken feed in bottle-fed babies
> add gaviscon in breast-fed
cow’s milk protein allergy features
- vomiting
- diarrhoea
- chronic cough/wheeze
- colic
- urticaria
mx for cow’s milk protein allergy
formula-fed:
- extensive hydrolysed formula milk (eHF)
- amino acid-based formula if no response/severe
breast-fed:
- cut CMP out of maternal diet and continue breast feeding
- eHF when breast-feeding stopped
pyloric stenosis features
- projectile vomiting ~30 mins after feed
- constipation (may be palpable abdo mass)
- hypokalaemic and hypochloraemic alkalosis (due to vomiting)
mx of pyloric stenosis
- ABCDE
- Ramstedt pyloromyotomy
acute appendicitis features
- central abdo pain moves to R iliac fossa
> pain typically worse on coughing/R leg hop - minimal vomiting
- low grade fever
intussusception features
telescoping of bowel, typically at ileocecal junction
- paroxysmal colic pain (draws legs up)
- diarrhoea (red currant jelly due to blood)
- vomiting
- ‘target’ mass on USS
mx of intussusception
- air insufflation
- surgery if unsuccessful/peritonitis
hirschsprung’s disease pathophysiology
developmental disorder causing absence of ganglion cells in a portion of bowel
> leads to fixed contraction and no peristalsis in that portion
features of hirschsprung’s disease
neonate - delayed meconium (>48hrs) child - constipation - abdo distension
diagnosis of hirschsprung’s
- PR exam causes bowel movement
- rectal biopsy
- AXR showing functional obstruction
mx of hirschsprung’s
- removal of the section of aganglionic colon
oesophageal atresia features
- frothy white bubbles in mouth
- dysphagia + vomiting
- distended abdomen
association with tracheo-oesophageal fistula + VACTERL
biliary atresia features
blockage/developmental disorder of bile duct leads to liver fibrosis
- jaundice (obstructive)
- pale stool + dark urine
- hepatomegaly
mx for biliary atresia
surgery - Kasai procedure
- ursodeoxycholic acid for symptom relief
necrotising enterocolitis features
necrosis of bowel typically affecting pre-term infants due to underdeveloped gut
- bloody stools
- abdo distension
- perforation/peritonitis if untreated
diagnosis of necrotising enterocolitis
history suggestive if preterm
- abdominal XR
> dilated bowel loops
> bowel wall oedema
> intramural gas
> Rigler sign = air inside and outside of intestine
> football sign = air outlining the falciform ligament
necrotising enterocolitis mx
- gut rest (parenteral nutrition + IV fluids)
- IV cefotaxime + metronidazole
- laparotomy if perforation
meckel’s diverticulum
pouch on small intestine formed from stomach or pancreas tissue - secretes acid/enzymes
- may lead to appendicitis-like pain, GI bleed or obstruction
features of volvulus
- constipation/diarrhoea
- blood in stool
- abdo distension
- bilious vomiting
neonatal hepatitis syndrome features
1-2 mo age ~20% due to virus (CMV/HSV/hep A/B/C) - jaundice - failure to thrive - hepatosplenomegaly
wilms’ tumour/nephroblastoma features
children < 5 yrs commonly, v good prognosis
- abdo mass
- painless haematuria
- flank pain
- fever
- decreased appetite
neuroblastoma features
tumour from neural crest tissue of adrenal medulla + symp NS - usually onset at ~20 months age
- abdo mass
- weight loss
- fatigue
- bone pain
- CNS symptoms if obstructing nerve
diagnosis of neuroblastoma
- high urinary vanillylmandelic acid (VMA)
- high urinary homovanillic acid (HVA)
- biopsy
- calcification on x ray
retinoblastoma features
avg age diagnosis = 18mo, autosomal dominant link
- absence of red reflex (leukocoria)
- strabismus
- visual problems
retinoblastoma mx
depends on how advanced: good prognosis
- photocoagulation
- external beam radiation therapy
- chemo
- enucleation
causes of paediatric osteoporosis
congenital - osteogenesis imperfecta - haematological acquired - drug induced (steroids) - malabsorption - endocrinopathy - immobilisation
osteogenesis imperfecta features
90% cases = auto dom (type 1 collagen) - bone fractures/deformities - bone pain - ligament hypermobility - poor growth B = bones I = eyes T = teeth E = ears
classification of osteo imperfecta
Sillence classification
1) mild
2) LETHAL
3) progressively deforming/severe
4) moderate
mx of osteo imperfecta
prevent fractures + deformities
- bisphosphonates
- surgery: bone screws/rods
- physio
- assistive devices
juvenile idiopathic arthritis features
arthritis in <16 yrs lasting >6 weeks
- painful/stiff/swollen joints
- recurrent fever
- limp without injury
oligoarticular JIA
most common type of JIA
- 4 or fewer joints involved
- typically knees, ankles, wrists + hands/feet bones
- related to uveitis
- usually self limiting - leaving NO/LITTLE joint damage
polyarticular JIA
- > 4 joints affected
- typically affects any peripheral joints and hips, neck/jaw
- recurrent fevers and fatigue
- may go into remission or continue into adulthood
systemic-onset JIA
- lymphadenopathy
- joint pain/swelling
- rash
- fever
- hard to predict prognosis but often settles with time
mx of JIA
- NSAIDs
- DMARDs
- biologics - tocilizumab/etanercept
- intra-articular prednisolone
RFs for developmental dysplasia of hip
- female
- breech
- family history
- oligohydramnios
- macrosomia
examination of developmental dysplasia of hip
Barlow test - attempt to dislocate femoral head Ortolani - attempt to relocate USS confirms diagnosis
mx of dev dysplasia of hip
most stabilise spontaneously by 3-6 wks
- Pavlik harness in children <5mo
- surgery if >5mo
perthes disease features
femoral head avascular necrosis
- 4-8yrs
- gradual onset hip pain (groin/thigh/knee) lasting >4 wks
- limp/antalgic gait
- decreased hip ROM
mx of Perthes disease
self limiting commonly
- follow up
- physio/aids
- pain relief
- surgery if >50% femoral head necrosed = increased risk of degenerative arthritis
slipped upper femoral epiphysis
fracture through growth plate
- typically obese males
- knee/thigh/hip pain - may precede fracture
- limited INT ROT, ABD of hip
- limp/antalgic
causes of precocious puberty (male)
usually organic cause in males
- with bilateral testicle enlargement = intracranial lesion releasing gonadotrophin
- with unilateral enlargement = gonadal tumour
- with small testes = adrenal hyperplasia
androgen insensitivity syndrome
X linked - end organ testosterone resistance causes 46XY to present phenotypically female
- primary amenorrhoea
- groin swellings = undescended testes
- breast development may occur due to testosterone converting to oestradiol
congenital adrenal hyperplasia features
decreased cortisol = high ACTH from ant pituitary
For 21-hydroxylase deficiency:
- virilised female infant
- precocious puberty in males
- salt-losing crisis in some aged 1-3wks due to low aldosterone, give fludrocortisone
mx of congen adrenal hyperplasia
- supportive for fluids/electrolytes
- supplement:
> hydrocortisone
> fludrocortisone
erythroblastosis fetalis (haemolytic disease of the newborn) features
Rh- mother who has previously had Rh+ exposure, antibodies to Rh+ travel to fetus and lyse fetal RBCs
- severe newborn anaemia
- jaundice
- fetal hepatosplenomegaly
sickle cell anaemia features
auto recessive HbS chain symptoms at 4-6 mo as HbF is taken over - anaemia symptoms, eg. fatigue/SOB - infection risk - splenomegaly - sickle crisis
mx sickle crisis
supportive
- analgesia
- O2
- abx if infection
glucose-6-phosphate dehydrogenase deficiency
X linked recessive (males)
RBC enzyme defect = oxidative stress of RBC
- crisis brought on by drugs/infections/broad beans
- neonatal jaundice
- gallstones
- splenomegaly
Heinz bodies, bite cells, hemighosts on blood film
haemophilia
x linked
- A = factor 8 deficiency
- B = factor 9 deficiency
Osgood-Schlatter disease
- seen in sporty teenagers
- pain, tenderness and lump over the tibial tubercle
definition of precocious puberty
secondary sexual characteristics before 8 years in females and 9 years in males
