PAEDIATRICS 2 Flashcards
How do you diagnose necrotising enterocolitis?
AXR - dilated bowel loops, bowel wall oedema, pneumatosis intestinalis, pneumoperitoneum, rigler sign and football sign
What can cause visible peristalsis soon after feeding in a baby’s abdomen?
Pyloric stenosis
What is the most common cause of inherited neurodevelopmental delay?
Fragile X syndrome
When does cow’s milk protein allergy typically present?
In the first 3 months of life in formula-fed infants
Investigations for cows milk protein allergy?
Diagnosis is often clinical i.e. improvement with cows milk protein elimination
But you can do skin prick or patch testing and measure total IgE and specific IgE for cows milk protein
Symptoms that suggest cows milk protein allergy rather than GORD?
Urticaria/atopic eczema or other skin issues
Resp involvement e.g. Wheeze/chronic cough
Rare but angioedema or anaphylaxis
Bloody stools, diarrhoea
FTT or weight loss
Common notifiable children’s diseases?
Meningitis
Measles
Mumps
Rubella
Scarlet fever
Pertussis
What is the most common cause of ambiguous genitalia in newborns?
Congenital adrenal hyperplasia
Presentation of vesicoureteric reflux?
Hydronephrosis on USS in antenatal period
Recurrent childhood UTIs
How is vesicoureteric reflux diagnosed?
Micturition cystourethrogram
(DMSA scan may be done to look for renal scarring)
What is a micturition cystourethrogram?
Contrast medium is injected through a catheter to fill the bladder and XR images will be taken as the child empties their bladder
What is the most common type of congenital diaphragmatic hernia?
Left-sided posterolateral bochdalek hernia (85%)
What is the issue with congenital diaphragmatic hernias?
They cause pulmonary hypoplasia and hypertension which causes respiratory distress shortly after birth
Only 50% of newborns will survive
Features of rickets?
Aching bones/joints
Genu varum/valgum
Kyphoscoliosis
Dental problems e.g. delay in coming through or cavities
Poor growth and development
Fractures
Predisposing factors for rickets?
Deficient dietary Ca
Prolonged breastfeeding (breast milk does not contain enough vitamin D)
Unsupplementated cows milk formula (not enough vitamin D)
Lack of sunlight
How is pertussis diagnosed?
Per nasal swab culture for bordatella pertusssis - via culture, serological testing or PCR
What age does perthes’ disease usually occur?
4-8 years
Which gender is perthe’s disease more common in?
Boys - 5x more common
Typically… how long do d&v stop in children with gastroenteritis?
Vomiting lasts 1-2 days and stops within 3 days
Diarrhoea lasts 5-7 days and stops within 2 weeks
What are signs suggesting hypernatraemic dehydration?
jittery movements
increased muscle tone
hyperreflexia
convulsions
drowsiness or coma
In which children with gastroenteritis should you consider doing a stool culture
If suspecting septicaemia
Any blood or mucus in the stool
Child is immunocompromised
Recent been abroad
Diarrhoea not improved by day 7
If uncertain about diagnosis
What can cause hydrops Fetalis?
Haemolytic disease of the newborn
Twin to twin transfusion
Homozygous alpha thalassaemia
Fifth disease
Resp/cardiac disease
Chromosomal syndromes
Why should you never give amoxicillin or ampicillin independently for empirical therapy in children with meningitis
because Haemophilus influenzae type B is a common cause of meningitis in this age group and is often known to produce beta-lactamase, thus making penicillin-based antibiotics ineffective.
Signs suggesting pneumoniae rather than bronchiolitis?
High fever >39
Focal crackles on chest auscultation
Give 3 examples of diseases which have genetic anticipation?
huntingtons
myotonic dystrophy
Fragile X syndrome
What is the most serious long term complication of turner syndrome?
Aortic dissection
Time of onset for duodenal atresia vs malrotation with volvulus in a neonate with bilious vomiting?
Duodenal atresia presents within a few hours of birth
Malrotation with volvulus presents within 3-7 days after birth
When does meconium ileus usually present?
Within the first 24-48 hours of life
When after birth does NEC usually present
Second week of life
Causes of constipation in children?
Idiopathic - most
dehydration
low-fibre diet
medications e.g. Opiates or sedating antihistamines
anal fissure - pain
over-enthusiastic potty training/child feels pressured
hypothyroidism
Hirschsprung’s disease
hypercalcaemia
learning disabilities
Intestinal obstruction
Anorectal malformations e.g. anal stenosis
Coeliac - rare more likely to cause diarrhoea
cows milk protein allergy
Child maltreatment
Diagnostic investigations for coeliac disease?
Ensure child has eaten gluten-containing foods in >1 meal a day for at least 6 weeks
- anti tTG and total IgA
- consider checking IgG endomysial antibiotics or IgG anti-Gliadin antibodies or IgG tTGA if evidence of IgA deficiency
Refer to gastroenterologist if serology suggests diagnosis:
- duodenal biopsy
- may also test HLADQ2/8
Symptoms of coeliac?
Children often present before the age of 3 when cereals are introduced into their diet…
Persistent unexplained GI symptoms e.g. reflux, diarrhoea, pain, bloating, constipation, weight loss
FTT
Mout ulcers
Anaemia symptoms if older children
Dermatitis herpetiformis - symmetrical clusters of itchy blistering skin lesions followed by erosions, excoriation and hyperpigmentation on elbows/knees/shoulders/buttocks/face
features of tuberous sclerosis?
depigmented ash leaf spots
shagreen patches - rough patches on spine
adenoma sebacaum - reddish, brown papular rash over nose
subungal fibromata
neuro symptoms e.g. seizures and developmental delay
cafe au last spots are rarer
features of neurofibromatosis type 1?
cafe au lait spots
axillary and groin freckles
peripheral neurofibromas
iris homatomas
scoliosis
phaeochromocytoma
features of neurofibromatosis type 2?
B/L vestibular schwannomas
other CNS tumours
inheritance pattern of tuberous sclerosis and neurofibromatosis
both AD
what are features of Sturge-weber syndrome?
port-wine stain on forehead and eyelid region
seiures
hemiparesis
what is Von Hippel-Lindau syndrome?
a rare AD disorder that predisposes to neoplasia e.g. cerebellar haemangiomas, retinal haemangiomas, phaeocromocytoma etc
what causes mid systolic murmur maximal over the back, apical click and a radio-femoral delay?
coarctation of the aorta
what causes a continuous machinery murmur with a collapsing pulse, wide pulse pressure and heaving apex beat?
PDA
what causes an ejection systolic murmur with fixed splitting of S2?
ASD
what causes a pan systolic murmur with FTT?
VSD
causes of jaundice in the first 24 hours?
rhesus haemolytic disease
ABO haemolytic disease
hereditary spherocytosis
glucose-6-phosphodehydrogenase
causes of prolonged jaundice?
biliary atresia
hypothyroidism
galactosaemia
urinary tract infection
breast milk jaundice
prematurity
congenital infections e.g. CMV, toxoplasmosis
features of a complex febrile convulsion?
15-30 mins
focal seizure
may have a repeat seizure within 24 hours
level of awareness I focal seizures?
can vary - focal aware, focal impaired awareness and awareness unknown
why does congenital diaphragmatic hernia have a big mortalty
This can result in pulmonary hypoplasia and hypertension which causes respiratory distress shortly after birth.
symptoms of oesophageal atresia?
choking
cyanotic spells following aspiration
what is oesophageal atresia usually associated with?
tracheo-oesophageal fistula and polyhydramnios
most likely causative organism of pneumonia in children?
S. pneumonia
most common cause of a lung abscess in a previously well individual?
staph aureus
pathophys of HSP
IgA mediated small vessel vasculitis
features of HSP
palpable purpuric rash over buttocks and extensor surfaces of arms/legs
abdominal pain
polyarthritis
IgA nephropahy symptoms e.g. haematuria and renal failure
features of encephalitis?
fever, headache, psychiatric symptoms, seizures, vomiting
focal features e.g. aphasia
what usually causes encephalitis?
HSV1
which lobes are usually affected in encephalitis
temporal and inferior frontal
symptoms of stills disease/systemic onset juvenile idiopathic arthritis?
in children <16…
arthralgia
salmon, pink, maculopapular rash
rash that rises in late afternoon/early evening in a daily pattern
lymphadenopathy
uveitis
weight loss
most common benign bone tumour?
osteochondroma
most common primary malignant bone tumour?
osteosarcoma
types of benign bone tumours/
osteoma
osteochondroma
giant cell tumour
types of malignant bone tumours?
osteosarcoma
ewings sarcoma
chondrosarcoma
which bone tumour has onion skin appearance on XR?
Ewings sarcoma
which bone tumour has conman triangle and sunburst appearance on XR?
osteosarcoma
which bones does osteosarcoma typically affect.
metaphyseal region of long bones - 40% femur, 20% tubia, 10% humerus
predisposing factors for osteosarcoma?
mutation of Rb gene
paget’s disease of the bone
radiotherapy
which bone tumour is associated with Gardners syndrome?
osteoma
which bone tumour has soap/double bubble appearance on XR?
giant cell tumour
symptoms of hereditary spherocytosis?
FTT
jaundice and gallstones
splenomegaly
aplastic crisis precipitated by parvovirus infection
what is chvostek’s sign?
tapping over parotid causes facial muscles to twitch - seen in hypocalcaemia
what is trousseaus sign
carpal spasm if the brachial artery occluded by inflating the blood pressure cuff and maintaining pressure above systolic - see in hypocalcaemia
features of congenital adrenal hyperplasia?
virilisation - females have ambiguous genitalia
dehydration, hypotension, electrolyte imbalances
precocious punters
accelerated growth rates in children initially but short adult stature due to early epiphyseal closure
hypnatraemia, hyperkalaemia and acidosis
what causes 90% of congenital adrenal hyperplasia cases?
21 hydroxylase deficiency
features of osteogenesis imperfecta?
presents in childhood…
fractures following minor trauma
blue sclera
deafness secondary to otosclerosis
dental imperfections are common
complications of meningitis?
sensorieneural hearing loss
seizures
focal neurological deficit
cognitive impairment
visual impairment
amputations
skin scars
learning diffiucltiesi
emotional and behavioural diffiuclties
reduced QOL
what are brush field spots?
small grey or brown spots seen in the periphery of the iris
associated with down syndrome
features of Duchenne muscular dystrophy?
progressive proximal muscle weakness from 5 years
calf pseudohypertrophy
Gower’s sign
30% of patients have intellectual impairment
prognosis of Duchenne muscular dystrophy?
most children cannot walk by the age of 12 years
patients typically survive to around the age of 25-30 years
when is the pertussis vaccine given in pregnancy?
16-32 weeks
what should you do if a child <3 presents with an acute limp?
urgent admission - transient synovitis is very rare at this age
why are diabetic mothers a risk factor for child respiratory distress syndrome?
as insulin inhibits surfactant production
typical age and gender of perthes disease?
4-8\boys
definition and causes of microcephaly?
OFC <2nd centile
normal variant, familial, congenital infections, perinatal brain injuries, foetal alcohol syndrome, patau syndrome, craniosynostosis
what is phimosis? when is It considered normal?
a non-retractable foreskin which causes ballooning during micturition
normal under 2 and will likely resolve over time
features of foetal alcohol syndrome?
short palpebral fissure
hypoplastic upper lip
absent philtrum
learning disability
microcephaly
growth retardation
epicanthic folds
cardiac malformations
causes of neonatal hypotonia
sepsis
Werdnig-Hoffman disease (spinal muscular atrophy type 1)
hypothyroidism
Prader-Willi
cerebral palsy
maternal drugs e.g. benzodiazepines
maternal myasthenia gravis
what is baclofen?
a muscle relaxant ha can be used in cerebral palsy to help with painful spasticity
what is the most common presentation of neonatal sepsis?
respiratory distress
what is stills disease?
systemic juvenile idiopathic arthritis
what causes roseola infanum?
HHV6
are murmurs that vary with posture innocent or not?
innocent
what inheritance pattern is achondroplasia?
AD
risk factors for meconium aspiration syndrome?
post-term
smoke or substance misuse in pregnancy
maternal hypertension
pre-eclampsia
chorioamnionitis
main risk factor for achondroplasia?
advancing parental age at time of conception
can you be homozygous for achondroplasia
it is incompatible with life
blood smear findings in thrombotic thrombocytopenia purpura?
schistocytes
what causes TTP?
post-infection e.g. urinary, gastrointestinal
pregnancy
drugs: ciclosporin, oral contraceptive pill, penicillin, clopidogrel, aciclovir
tumours
SLE
HIV
pathophys of TTP?
there is a deficiency of ADAMTS13 which breakdowns large multimers of von Willebrand’s factor. abnormally large and sticky multimers of von Willebrand’s factor cause platelets to clump within vessels
gastroschisis vs exomphalos
gastroschisis is when there is congenital defect in the anterior abdominal wall just lateral to the umbilical cord, it is not covered in a membrane so needs urgent correction
In exomphalos (also known as an omphalocoele) the abdominal contents protrude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum. they can be repaired in a staged manner
what conditions are associated with exomphalos?
Beckwith-Wiedemann syndrome
Down’s syndrome
cardiac and kidney malformations
