Flashcards in Neonatology Deck (65):
A baby presenting with hypotonia, facial weakness and respiratory distress is suggestive of which condition ?
Congenial myotonic dystrophy
What is the genetic mutation which causes congenital myotonic dystrophy?
Triplet repeat in DMPK gene
What part of the brain is most affected by hypoglycaemia?
In sick preterm infants what is the most important variable affecting insensible fluid losses?
What are 4 causes of hydrops?
Blackman diamond anaemia
Rhesus disease of the newborn
What are three key features of Blackfan Diamond Anaemia?
1. Normochromic macrocytic anaemia
2. Congenital malformations (microcephaly, cleft palate, thumb anomalies, cardiac renal anomalies)
3. Increased risk malignancies (AML, myelodysplastic syndrome, osteosarcoma)
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?
What are the clinical features of congenital hypothyroidism?
Large anterior fontanelle
Sluggishness, minimal cry
Poor appetite/feeding difficulties
Somnolence/lack of interest
Protuberant abdomen, umbilical hernia
Cold & mottled skin
Later diagnosis 3-6 months
Coarse facial features:
-narrow palpabral fissures, swollen eyelids
-short thick neck
-broad hands, short fingers
-dry scaly skin
-coarse brittle hair
What are the risk factors for NEC in term infants?
Abdominal surgery (gastroschisis)
What are the clinical features of NEC?
What are the radiographic findings of NEC?
Portal venous gas
What is the treatment for NEC?
IV antibiotics (vancomycin, gentamicin, metronidazole)
What are some protective factors for NEC?
Early NBM if suspect NEC
What are the clinical features of Hirschsprung’s disease?
Failure to pass meconium <48hrs
Squirt sign - explosive passage of gas/stool with palpation
At what gestational week does intestinal malrotation occur?
What is the most severe outcome of 2nd trimester oligohydramnios?
10 day old baby presenting with bilateral supportive conjunctivitis is suggestive of which organism ? What is the treatment ?
2 day old neonate presenting with bilateral suppurative conjunctivitis is suggestive of which organism ?
How to differentiate traumatic tap from SAH?
High opening pressure
RBC don’t clear with subsequent tubes
What are the risk factors for neonatal subarachnoid haemorrhage?
Instrumental vaginal deliveries
What is the mechanism of action of phototherapy?
Blue light causes geometric photo-isomerisation of unconjugated bilirubin into a more water soluble molecule
What are the predominant cells found in erythema toxicum?
What is the rate of congenital malformation for sodium valproate?
(10-20x general population)
What are the differentiating features between deformational plagiocephaly and craniosynostosis?
Parallelogram shaped head
Ipsilareral ear displaced anteriorly
No palpable bony ridges
Trapezoid shaped head
Ispilateral ear displaced posteriorly
Palpable bony ridges
Which parts of the brain are most affected by bilirubin in kernicterus encephalopathy?
Fortification of human donor milk increases risk of NEC - true or false
False as per Cochrane review
Antenatal steroids reduces risk of NEC - true or false
Probiotics reduce the incidence of NEC and mortality - true or false
What are the indications for surgery for NEC?
Failure to respond to medical management
What provides the strongest stimulus for postnatal closure of the ductus in a term infant ?
Circulating systemic oxygen
What percentage of RV output goes through the lungs in foetal circulation?
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
What should you suspect as the cause of jaundice in a 2 week baby with poor weight gain, umbilical hernia, large fontanelle
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
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
What are the outcomes for late preterm babies compared to term?
Worse neurodevelopmental outcomes
Increased risk of cerebral palsy
Giving magnesium sulphate to <32 weekers has what benefit?
Reduces incidence of CP by 1/3
What is the survival rate of babies born at 24 weeks in Australasia? And 23 weeks?
Caffeine therapy reduces the incidence of chronic lung disease - true or false
At what spinal level are the
Superior mesenteric artery
T12 - L1
Therefor aim UAC not below T10
Baby presents with projectile non bilious vomiting
X-ray shows double bubble sign
What is the diagnosis and what syndrome is associated ?
Down syndrome 30%
What is the pattern of inheritance for retinoblastoma ?
Autosomal dominant with incomplete penetrance
What syndrome is associated with omphalocoele and Low glucose
Gastroschisis is associated with
IUGR and intestinal atresia - true or false
Intestinal atresia in 10-15%
In regards to congenital diaphragmatic hernia - which side has higher mortality ?
Congenital diaphragmatic hernias are usually associated with additional congenital anomalies - true or false
Penicillin is an appropriate antibiotic to cover listeria - true or false
False - 30% are resistant to penicillin
Ingestion by the mother of which drugs gives babies a smaller head?
What is the immune function of human milk oligosaccharides?
Anti adhesive function
Specific actions against GBS, enteropathogenic E. coli & Campylobacter
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)
What are the risk factors for cerebral palsy ?
Low birth weight
Maternal thyroid disease & thrombophilia
Elevated cord levels of inflammatory cytokines
Other congenital abnormalities
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
In regards to HIV vertical transmission - what is the most predictive factor?
(Not CD4 count)
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
What is the mortality of HIE
What is the the therapeutic window for HIE ?
What is the estimated protein requirement for a stable preterm infant > 1 week of life ?
What are the energy requirements ?
ELBW energy requirements = 75-85 kcal/kg/day
VLBW = 60-70kcal/kg/day
What congenital infection is associated with salt and pepper retinopathy and cataracts ?
(Clue sensorineural deafness, cardiac disease, blueberry muffin rash)
What congenital infection is associated with dermatomal rash, hypoplastic limbs?
Chorioretinitis & cataracts
What congenital infection is associated with microcephaly, intracranial calcifications, sensorineural hearing loss, hepatosplenomegaly, thrombocytopenia ?
Sensorineural hearing loss is classic
Which congenital infection is associated with irritability, rhinitis, periostitis and jaundice ?
Later disease > 2 yrs
What congenital infection is associated with microcephaly, limb contractures, eye and neurological abnormalities and sensorineural hearing loss ?
What are the characteristic features of prune belly syndrome?
Cardiac abnormalities 10%
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