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Neonatology Flashcards

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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
Which parts of the brain are most affected by bilirubin in kernicterus encephalopathy?
Nasal ganglia | Acoustic nerve
26
Fortification of human donor milk increases risk of NEC - true or false
False as per Cochrane review
27
Antenatal steroids reduces risk of NEC - true or false
True
28
Probiotics reduce the incidence of NEC and mortality - true or false
True
29
What are the indications for surgery for NEC?
Perforation Abdominal mass Failure to respond to medical management
30
What provides the strongest stimulus for postnatal closure of the ductus in a term infant ?
Circulating systemic oxygen
31
What percentage of RV output goes through the lungs in foetal circulation?
13%
32
Which parts of the body do the left and right ventricles supply in foetal circulation ?
LV upper 1/3 of body | RV lower 2/3
33
What should you suspect as the cause of jaundice in a 2 week baby with poor weight gain, umbilical hernia, large fontanelle
Congenital hypothyroidism
34
What is the mechanism of macrosomia?
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
What are the benefits of caffeine in preterm neonates?
Decreases incidence of chronic lung disease Increases disability free survival at 20 months of age Reduces weight gain Decreases incidence of severe ROP
36
What are the outcomes for late preterm babies compared to term?
Worse neurodevelopmental outcomes | Increased risk of cerebral palsy
37
Giving magnesium sulphate to <32 weekers has what benefit?
Reduces incidence of CP by 1/3
38
What is the survival rate of babies born at 24 weeks in Australasia? And 23 weeks?
70% | 50%
39
Caffeine therapy reduces the incidence of chronic lung disease - true or false
True
40
At what spinal level are the Renal arteries Superior mesenteric artery
L1-2 T12 - L1 Therefor aim UAC not below T10
41
Baby presents with projectile non bilious vomiting X-ray shows double bubble sign What is the diagnosis and what syndrome is associated ?
Duodenal atresia | Down syndrome 30%
42
What is the pattern of inheritance for retinoblastoma ?
Autosomal dominant with incomplete penetrance
43
What syndrome is associated with omphalocoele and Low glucose
Beckwith Wiederman
44
Gastroschisis is associated with | IUGR and intestinal atresia - true or false
True | Intestinal atresia in 10-15%
45
In regards to congenital diaphragmatic hernia - which side has higher mortality ?
Right
46
Congenital diaphragmatic hernias are usually associated with additional congenital anomalies - true or false
False
47
Penicillin is an appropriate antibiotic to cover listeria - true or false
False - 30% are resistant to penicillin
48
Ingestion by the mother of which drugs gives babies a smaller head?
Methadone | Methamphetamine
49
What is the immune function of human milk oligosaccharides?
Anti adhesive function | Specific actions against GBS, enteropathogenic E. coli & Campylobacter
50
What is the most likely neirodevelopmental outcome for a 26 weeker with a relatively uncomplicated course or RDS and feed intolerance
Spastic diplegia (leg area of vortex closest to ventricle - most susceptible to any small insult)
51
What are the risk factors for cerebral palsy ?
Chorioamnionitis Low birth weight Maternal thyroid disease & thrombophilia Elevated cord levels of inflammatory cytokines Multiple births Other congenital abnormalities
52
What are the contraindications to BCG vaccination?
``` 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
In regards to HIV vertical transmission - what is the most predictive factor?
Viral load | Not CD4 count
54
What are the usual patterns of brain damage in HIE for preterm vs term babies?
Preterm usually white matter - periventricular | Term usually Grey matter - subcortical white matter and parasagittal critical injury
55
What is the mortality of HIE
20-30%
56
What is the the therapeutic window for HIE ?
2-6 hours
57
What is the estimated protein requirement for a stable preterm infant > 1 week of life ? What are the energy requirements ?
3-4g/kg/day ELBW energy requirements = 75-85 kcal/kg/day VLBW = 60-70kcal/kg/day
58
What congenital infection is associated with salt and pepper retinopathy and cataracts ? (Clue sensorineural deafness, cardiac disease, blueberry muffin rash)
Rubella
59
What congenital infection is associated with dermatomal rash, hypoplastic limbs? Chorioretinitis & cataracts Cutaneous/cicatricial scars Seizures
Varicella
60
What congenital infection is associated with microcephaly, intracranial calcifications, sensorineural hearing loss, hepatosplenomegaly, thrombocytopenia ?
CMV Sensorineural hearing loss is classic
61
Which congenital infection is associated with irritability, rhinitis, periostitis and jaundice ?
Syphilis (Treponema pallidum) Later disease > 2 yrs Bulldog facies Mulberry molars Hutchison teeth
62
What congenital infection is associated with microcephaly, limb contractures, eye and neurological abnormalities and sensorineural hearing loss ?
Zika virus
63
What are the characteristic features of prune belly syndrome?
``` 95% male Bowel malrotation Cardiac abnormalities 10% Patent urachus Cryptorchidism ```
64
How do you define the grade of IVH?
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
Without intervention what is the vertical transmission rate of HIV? What are the recommendations for mode of delivery and breastfeeding ?
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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