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Paediatrics > Neonatology > Flashcards

Neonatology Flashcards

1
Q

A baby presenting with hypotonia, facial weakness and respiratory distress is suggestive of which condition ?

A

Congenial myotonic dystrophy

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2
Q

What is the genetic mutation which causes congenital myotonic dystrophy?

A

Triplet repeat in DMPK gene

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3
Q

What part of the brain is most affected by hypoglycaemia?

A

Occipital lobe

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4
Q

In sick preterm infants what is the most important variable affecting insensible fluid losses?

A

Gestation

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5
Q

What are 4 causes of hydrops?

A

Alpha thalassaemia
Blackman diamond anaemia
Foetal parvovirus
Rhesus disease of the newborn

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6
Q

What are three key features of Blackfan Diamond Anaemia?

A
  1. Normochromic macrocytic anaemia
  2. Congenital malformations (microcephaly, cleft palate, thumb anomalies, cardiac renal anomalies)
  3. Increased risk malignancies (AML, myelodysplastic syndrome, osteosarcoma)
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7
Q

Term baby presents at two weeks of life with persistent jaundice. Clinical findings include decreased tone, umbilical hernia, large anterior fontanelle. What is the most likely cause?

A

Congenital hypothyroidism

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8
Q

What are the clinical features of congenital hypothyroidism?

A 
Microcephaly 
Large anterior fontanelle 
Jaundice 
Sluggishness, minimal cry 
Poor appetite/feeding difficulties 
Somnolence/lack of interest 
Protuberant abdomen, umbilical hernia 
Macroglossia 
Cold & mottled skin 
Hypotonia 
Later diagnosis 3-6 months 
Coarse facial features: 
-hypertelorism 
-narrow palpabral fissures, swollen eyelids 
-delayed dentition
-short thick neck 
-broad hands, short fingers 
-dry scaly skin 
-coarse brittle hair
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9
Q

What are the risk factors for NEC in term infants?

A

Polycythaemia
Cardiac surgery
Abdominal surgery (gastroschisis)
Endocrine abnormalities

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10
Q

What are the clinical features of NEC?

A 
Abdominal distension 
Bilious vomiting 
Bloody stools 
Temperature instability 
Apnoeas
Bradycardia
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11
Q

What are the radiographic findings of NEC?

A

Ileus
Portal venous gas
Pneumatosis intestinalis
Pneumoperitoneum

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12
Q

What is the treatment for NEC?

A

NBM
Blood cultures
IV antibiotics (vancomycin, gentamicin, metronidazole)

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13
Q

What are some protective factors for NEC?

A

Antenatal corticosteroids
Breast milk
Early NBM if suspect NEC

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14
Q

What are the clinical features of Hirschsprung’s disease?

A 
Looks well 
Abdominal distension 
Bilious vomiting 
Failure to pass meconium <48hrs 
Squirt sign - explosive passage of gas/stool with palpation
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15
Q

At what gestational week does intestinal malrotation occur?

A

Week 10

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16
Q

What is the most severe outcome of 2nd trimester oligohydramnios?

A

Pulmonary hypoplasia

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17
Q

10 day old baby presenting with bilateral supportive conjunctivitis is suggestive of which organism ? What is the treatment ?

A

Chlamydia trachomatis

Azithromycin

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18
Q

2 day old neonate presenting with bilateral suppurative conjunctivitis is suggestive of which organism ?

A

Neisseria gonorrhoea

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19
Q

How to differentiate traumatic tap from SAH?

A

SAH
High opening pressure
RBC don’t clear with subsequent tubes

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20
Q

What are the risk factors for neonatal subarachnoid haemorrhage?

A

Instrumental vaginal deliveries

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21
Q

What is the mechanism of action of phototherapy?

A

Blue light causes geometric photo-isomerisation of unconjugated bilirubin into a more water soluble molecule

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22
Q

What are the predominant cells found in erythema toxicum?

A

Eosinophils

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23
Q

What is the rate of congenital malformation for sodium valproate?

A

1-2%

10-20x general population

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24
Q

What are the differentiating features between deformational plagiocephaly and craniosynostosis?

A

Plagiocephaly:
Parallelogram shaped head
Ipsilareral ear displaced anteriorly
No palpable bony ridges

Craniosynostosis:
Trapezoid shaped head
Ispilateral ear displaced posteriorly
Palpable bony ridges

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25
Q

Which parts of the brain are most affected by bilirubin in kernicterus encephalopathy?

A

Nasal ganglia

Acoustic nerve

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26
Q

Fortification of human donor milk increases risk of NEC - true or false

A

False as per Cochrane review

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27
Q

Antenatal steroids reduces risk of NEC - true or false

A

True

28
Q

Probiotics reduce the incidence of NEC and mortality - true or false

A

True

29
Q

What are the indications for surgery for NEC?

A

Perforation
Abdominal mass
Failure to respond to medical management

30
Q

What provides the strongest stimulus for postnatal closure of the ductus in a term infant ?

A

Circulating systemic oxygen

31
Q

What percentage of RV output goes through the lungs in foetal circulation?

A

13%

32
Q

Which parts of the body do the left and right ventricles supply in foetal circulation ?

A

LV upper 1/3 of body

RV lower 2/3

33
Q

What should you suspect as the cause of jaundice in a 2 week baby with poor weight gain, umbilical hernia, large fontanelle

A

Congenital hypothyroidism

34
Q

What is the mechanism of macrosomia?

A

Insulin doesn’t cross placenta
Baby receives low glucose levels from mum which stimulates baby’s own insulin levels to go up - stimulates growth factor — big baby

35
Q

What are the benefits of caffeine in preterm neonates?

A

Decreases incidence of chronic lung disease
Increases disability free survival at 20 months of age
Reduces weight gain
Decreases incidence of severe ROP

36
Q

What are the outcomes for late preterm babies compared to term?

A

Worse neurodevelopmental outcomes

Increased risk of cerebral palsy

37
Q

Giving magnesium sulphate to <32 weekers has what benefit?

A

Reduces incidence of CP by 1/3

38
Q

What is the survival rate of babies born at 24 weeks in Australasia? And 23 weeks?

A

70%

50%

39
Q

Caffeine therapy reduces the incidence of chronic lung disease - true or false

A

True

40
Q

At what spinal level are the
Renal arteries
Superior mesenteric artery

A

L1-2
T12 - L1
Therefor aim UAC not below T10

41
Q

Baby presents with projectile non bilious vomiting
X-ray shows double bubble sign
What is the diagnosis and what syndrome is associated ?

A

Duodenal atresia

Down syndrome 30%

42
Q

What is the pattern of inheritance for retinoblastoma ?

A

Autosomal dominant with incomplete penetrance

43
Q

What syndrome is associated with omphalocoele and Low glucose

A

Beckwith Wiederman

44
Q

Gastroschisis is associated with

IUGR and intestinal atresia - true or false

A

True

Intestinal atresia in 10-15%

45
Q

In regards to congenital diaphragmatic hernia - which side has higher mortality ?

A

Right

46
Q

Congenital diaphragmatic hernias are usually associated with additional congenital anomalies - true or false

A

False

47
Q

Penicillin is an appropriate antibiotic to cover listeria - true or false

A

False - 30% are resistant to penicillin

48
Q

Ingestion by the mother of which drugs gives babies a smaller head?

A

Methadone

Methamphetamine

49
Q

What is the immune function of human milk oligosaccharides?

A

Anti adhesive function

Specific actions against GBS, enteropathogenic E. coli & Campylobacter

50
Q

What is the most likely neirodevelopmental outcome for a 26 weeker with a relatively uncomplicated course or RDS and feed intolerance

A

Spastic diplegia (leg area of vortex closest to ventricle - most susceptible to any small insult)

51
Q

What are the risk factors for cerebral palsy ?

A

Chorioamnionitis
Low birth weight
Maternal thyroid disease & thrombophilia
Elevated cord levels of inflammatory cytokines
Multiple births
Other congenital abnormalities

52
Q

What are the contraindications to BCG vaccination?

A 
HIV infection/immune compromise 
Generalised skin disease eg eczema 
Maternal anti TNF therapy during pregnancy 
- delay BCG 
Positive mantoux and under 8 months old

NB effective against generalised/miliary TB, TB meningitis but not pulmonary TB

53
Q

In regards to HIV vertical transmission - what is the most predictive factor?

A

Viral load

Not CD4 count

54
Q

What are the usual patterns of brain damage in HIE for preterm vs term babies?

A

Preterm usually white matter - periventricular

Term usually Grey matter - subcortical white matter and parasagittal critical injury

55
Q

What is the mortality of HIE

A

20-30%

56
Q

What is the the therapeutic window for HIE ?

A

2-6 hours

57
Q

What is the estimated protein requirement for a stable preterm infant > 1 week of life ?
What are the energy requirements ?

A

3-4g/kg/day
ELBW energy requirements = 75-85 kcal/kg/day
VLBW = 60-70kcal/kg/day

58
Q

What congenital infection is associated with salt and pepper retinopathy and cataracts ?
(Clue sensorineural deafness, cardiac disease, blueberry muffin rash)

A

Rubella

59
Q

What congenital infection is associated with dermatomal rash, hypoplastic limbs?
Chorioretinitis & cataracts
Cutaneous/cicatricial scars
Seizures

A

Varicella

60
Q

What congenital infection is associated with microcephaly, intracranial calcifications, sensorineural hearing loss, hepatosplenomegaly, thrombocytopenia ?

A

CMV

Sensorineural hearing loss is classic

61
Q

Which congenital infection is associated with irritability, rhinitis, periostitis and jaundice ?

A

Syphilis
(Treponema pallidum)

Later disease > 2 yrs
Bulldog facies
Mulberry molars
Hutchison teeth

62
Q

What congenital infection is associated with microcephaly, limb contractures, eye and neurological abnormalities and sensorineural hearing loss ?

A

Zika virus

63
Q

What are the characteristic features of prune belly syndrome?

A 
95% male 
Bowel malrotation 
Cardiac abnormalities 10%
Patent urachus 
Cryptorchidism
64
Q

How do you define the grade of IVH?

A

Grade I - bleed into germinal layer
Grade II - bleed into ventricle without dilation
Grade III - bleed into ventricle with dilatation
Grade IV - intraparenchymal bleed

65
Q

Without intervention what is the vertical transmission rate of HIV?

What are the recommendations for mode of delivery and breastfeeding ?

A

15-45%
Caesar only indicated for obstetric reasons
Breastfeeding recommended for developing world but not first world
Formula fed in first world with viral suppression therapy risk comes down to <2%

Paediatrics (17 decks)

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