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FRACP exam paediatrics > Neonatology > Flashcards

Neonatology Flashcards

1
Q

What is a Fetal intracardiac echogenic focus?

A
  • Fetal intracardiac echogenic focus = mineralisation within the cardiac papillary muscles or failure of the chordae tendinae to fenestrate during cardiogenesis.
  • When an isolated intracardiac echogenic focus is seen, is most likely a normal variant, fetal echocardiography is not indicated.
  • There is a possible increased risk of aneuploidy
  • It is a soft marker for Down Syndrome
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2
Q

What are the fluid and nutritional requirements per kg in a stable, growing PRETERM infant?

Carbs =4cal/g
Protein = 4 cal/g
Fat = 9cal/g

A 
Protein 3.0-3.8g
Energy 110-120kcal
Carb 3.8-11.8g
Fat 5-20% of calories
Na 2-3 mmol
K 2-3 mmol
Ca 2-3 mmol
Po4 1.94-4.52 mmol
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3
Q

What are the most common types of oesophageal fistula and TOeF?

A

Blind prox pouch oesophageal pouch with distal oesophageal to tracheal fistula = 85%

Oesophageal atresia w/o fistula = 10%
Proximal +/- distal fistula =5%

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4
Q

What % of TOeF is associated with other abnormalities?

A

30-50%

VACTERL

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5
Q

What does malrotation present with?

A

Incomplete rotation of midgut in fetal life
Incomplete and intermittent obstruction from Ladd bands
Bilious vomiting
Mild abdo distension
Sudden deterioration if midgut volvulus

-UGI contrast studies show duodenal-jejunal flexure on the right of the abdomen and a high caecum (RUQ)

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6
Q

What is associated with malrotation?

A 
Diaphragmatic hernia
Duodenal atresia
Bowel atresia 
Situs invertus
Can get secondary volvulus
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7
Q

What is Duodenal atresia associated with?

A

70% associated with other abnormality
Trisomy 21
Congenital heart disease
Malrotation

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8
Q

What does duodenal atresia present with?

A

Antenatally- double bubble on USS, polyhydramnios

Post natally- bilious vomiting, double bubble on XR

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9
Q

What is exomphalos (omphalocele) and what is it associated with?

A

Failure of gut to return into abdo cavity in 1st trimester

Approx 75% cases assoc with other congenital abnormalities

  • trisomies
  • CHD
  • Beckwith-Wiedemann syndrome
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10
Q

When does PIVH (in preterms) occur?

A

> 50% first 24 hrs
Approx 10-20% d2-3
Approx 20-30% d4-7
Approx 10% after 1/52

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11
Q

What are the classifications of PIVH?

A

Grade1 - germinal matrix haemorrhage

Grade2- IVH w/o ventricular dilation

Grade 3- IVH with blood distending lateral ventricle

Grade 4- echogenic intraparenchymal lesion assoc with PIVH

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12
Q

What does PIVH (in preterm) present with?

A

Grade 1 and 2- siiillllent. Detected by routine USS

3- occasionally shock from blood loss into ventricles

4- same as 3 + occasionally seizures, hypotonia, bulging fontanelle

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13
Q

What are the most common genetic defects in IVF babies?

A

Imprinting defects

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14
Q

Causes of Raised AFP (in maternal screening) + fetal blood

A

Anueploidy
Gastroschisis
Omphalocoele
NTD’s

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15
Q

Neonatal lupus

A
  • only 1% mums with lupus get it (those at biggest risk are mums who are anti-Rho positive)
  • Usually one organ system affected
  • > 90% anti Rho ab positive
  • Usually heart block (transient or permanent)
  • Skin changes –> sun exposed from about 3-6 weeks old
  • supportive care only
  • Can include babies >1 month old.
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16
Q

Blueberry muffin rash

A

Cmv
Rubella
neuroblastoma
Due to ADD

17
Q

Fetal alcohol syndrome

A 
IUGR
Dysmorphic
Developmental delay, microcephaly
Hypertrichosis for up to 6 months
Irritable
ADD
18
Q

Persistent hyperinsulinaemic hypoglycemia

A
  • if persistent often genetic component –> especially ATP gated K channel
    K channel at baseline normally should be OPEN
    Defect results in K channel being CLOSED

Normally:
Glucose –> B cell via Glut2 receptor –> glucokinase phosphorylates into Glucose-6-phosphate releasing ATP —> ATP binds to K channel –> K channel CLOSES –> intracellular K RISES –> membrane of cells DEPOLARISE –> voltage gated calcium channels OPEN –> calcium floods INTO cells–> insulin released into blood by exocytosis

In PHH:
K channel remains CLOSED the whole time –> high K+ ALL the time –> cell membrane depolarised ALL the time –> calcium influx ALL the time –> Insulin secreted ALL the time = high circulating insulin

Rx:
Diazoxide –> forces ATP dependent K channels to open

19
Q

Oomphalocele

A
  • Opening in the abdominal wall at site of umbilicus with herniation of the midgut, covered by peritoneum and amniotic membrane.
  • Due to embryological failure of the midgut to re-enter the abdomen
  • Incidence of 1:5000
  • 35-80% incidence of other clinical problems: trisomy 13, 18; Beckwith-Weidemann syndrome; renal malformations (bladder extrophy, Wilms tumour (40%)); congenital heart disease

Other: cleft palate, and musculoskeletal and dental occlusion abnormalities.

RX:

  • Resuscitation and replacement of hypoalbuminaemia
  • Gastric decompression and wrap gastrointestinal contents initially
  • Cover with IVABx
  • TPN for nutrition
  • Primary closure for small lesions, staged surgical repair for larger lesions.
20
Q

Gastroschisis

A

-Separation in the abdominal wall, and evisceration of gastrointestinal contents (intestines) through a right paraumbilical defect, NOT covered by peritoneum.

-Herniation can occur antenatally or perinatally.
Incidence 1:30 000.

-Concurrent chromosomal anomalies in less than 5%, but bowel scarring, strictures/adhesions and atresias can be associated.

Complications: FTT, short gut syndrome.

RX:

  • Resuscitation and replacement of hypoalbuminaemia
  • Gastric decompression and wrap gastrointestinal contents initially
  • Cover with IVABx
  • TPN for nutrition
  • Primary closure for small lesions, staged surgical repair for larger lesions.
21
Q

What is the commonest cause of painless abdominal distension in the neonate?

A

SEPSIS!

  • abdo distension is from ileus secondary to sepsis
  • occurs EVEN in the ABSENCE of FEVER
  • If vomiting, consider volvulus
  • Gastro doesn’t normally cause abdo distention
22
Q

Malrotation WITH volvulus

A
  • bilious vomiting
  • bloody stools
  • abdominal distention
  • looks toxic
  • XR
  • dilated bowel with air fluid levels
  • most appropriate next study is
  • Upper GI studies which shows malrotation
  • -> duodenum to right of spine
  • -> jejunum ‘coiled spring’ in RUQ
  • -> caecum not fixed and usually in RUQ
23
Q

Bronchopulmonary dysplasia

A
  • babies <28 week gestation
  • more susceptible to lung injury
    -disruption of 3rd phase of lung development (16-28 weeks)
    = cannilicular and early saccular phase

–> caused by medical treatments to babies <28 weeks resulting in dysmorphic growth and interrupted maturation

24
Q

5 phases of neonatal lug development

A
  1. embryonic = 26 days to 6 weeks gestation
  2. Pseudoglandular = 6-16 weeks
  3. Canniculare = 16-28 weeks
  4. Saccular = 28-36 weeks
  5. Alveola = 36 weeks to infancy
25
Q

Pierre Robin’s sequence

A
  • Described as a “sequence” because mandibular hypoplasia initiates a sequence of events before birth that cause other signs and symptoms.
  • Mandibular hypoplasia influences the placement of the tongue to be more posterior, which then becomes a risk of airway obstruction.
  • The abnormally small mandible also keeps the tongue high in the oral cavity, causing a cleft in the palate and absence of a cleft lip.
  • Babies with Pierre Robin sequence can have difficulty feeding due to the cleft palate and if left untreated can lead to failure to thrive.
  • Treatment involves prone positioning and nasogastric feeding, but in severe cases patients may require a tracheostomy
26
Q

PPHN

A

In the first few days of life, there may be difficulty feeding with breathlessness and increasing cyanosis, largely unresponsive to supplemental oxygen.

The patient may be in heart failure with tachycardia, tachypnoea, and hepatomegaly.

A murmur may or may not be audible.

In severe cases the baby may be collapsed in cardiogenic shock with a grey appearance and weak or absent peripheral pulses.

An infant suspected of having a ductal-dependent congenital cardiac defect should be treated with prostaglandin E1 because he/she is at risk for progressive hypoxia and metabolic acidosis if the ductus closes.

Prostaglandin E1 will prevent the ductus arteriosus from closing and reestablish ductal patency if closure has already occurred, and thereby increase PaO2, and mitigate the onset of metabolic acidosis.

This drug is indicated for the temporary management of the neonate with ductus-dependent congenital heart disease while awaiting transfer to a tertiary care nursery for evaluation and surgical therapy. It is also used to stabilise a neonate’s condition until surgery can be completed.

Therefore in general, the more severe lesions will cause systemic hypoperfusion, poor pulses, and metabolic acidosis

27
Q

Congenital causes of cloudy cornea

A

Congenital cornea is most common cause
others see below:

◾S - Sclerocornea
◾T - Tears in the Descemet membrane secondary to birth trauma or congenital glaucoma
◾U - Ulcers
◾M - Metabolic
◾P - Peters anomaly
◾E - Edema
◾D - Dermoid
28
Q

Congenital glaucoma

A
  • Primary infantile glaucoma occurs in 1:10,000 live births. It is a major cause of blindness. Primary infantile glaucoma is bilateral in more than two-thirds of affected patients, but may be asymmetric in onset.
  • It is characterised by improper development of the eye’s aqueous outflow system, leading to increased intraocular pressure, with consequent damage to ocular structures, resulting in loss of vision.

-The typical infant with primary infantile glaucoma presents with the classic triad of:
◾Chronic or intermittent tearing
◾Photophobia
◾Some degree of blepharospasm

-may notice a large cornea or asymmetry in the corneal diameters. Corneal edema is manifest as clouding.

Findings on physical examination include:
◾Corneal enlargement
◾Corneal clouding, conjunctival injection, tearing, discharge, and blepharospasm, which are caused by corneal edema
◾Optic nerve cupping
◾Ocular enlargement (buphthalmos)

29
Q

Chlamydia trachomatis infection

A

– C. trachomatis is primarily transmitted to newborns via exposure to an infected mother’s genital flora during vaginal birth.
- 5 days after birth to 2 weeks

  • The most frequent clinical manifestation of C. trachomatis infection in the newborn is conjunctivitis.
  • Clinical findings of conjunctivitis range from mild swelling with a watery eye discharge, which becomes mucopurulent, to marked swelling of the eyelids with red and thickened conjunctivae (chemosis).
  • A pseudomembrane may form as the exudate adheres to conjunctiva. The conjunctivae may also be very friable resulting in bloody discharge
  • Babies infected with chlamydia may develop pneumonitis (chest infection) at a later stage (range 2–19 weeks after delivery). Infants with chlamydia pneumonitis should be treated with oral erythromycin
30
Q

HSV infection

A
  • Intrauterine or congenital herpes simplex virus (HSV) infection is rare. It is most likely caused by maternal viremia associated with primary HSV infection during pregnancy.
  • Intrauterine HSV is associated with placental infarcts and necrotizing, calcifying funisitis (inflammation of the umbilical cord), hydrops fetalis, and fetal in utero demise.
  • Survivors of in utero HSV infection may exhibit a characteristic triad of skin vesicles/ulcerations/scarring; eye damage; and severe central nervous system manifestations, including microcephaly or hydranencephaly
31
Q

Mucopolysaccharidosis and corneal clouding

A

Hurler syndrome is the severe form of MPS I and is characterised by a broad spectrum of clinical problems, including:

skeletal abnormalities, hepatosplenomegaly, and severe intellectual disability (mental retardation).

  • Affected infants appear normal at birth. During the first year, they develop the characteristic coarse facial features, wide nasal bridge, and flattened midface.
  • Loss of vision and hearing may worsen the progressive developmental decline.
  • Corneal clouding is a characteristic feature
32
Q

Congenital gonorrhoea

A
  • Neisseria gonorrhoeae
  • Delivery of the baby until 5 days after birth (early onset)
  • marked bilateral purulent discharge and local inflammation. Inflammation more marked than Chlamydia
  • Discharge re accumulates quickly when wiped
  • RX with Ceftriaxone 7 days
  • Prophylaxis if known to be at risk with topical ointment within 1 hour of birth
33
Q

Caloric requirements in neonates

A
  • 100 kcal/kg would be the upper limit appropriate for premature infants receiving total parental nutrition, where less faecal loss, less heat stress and less activity is typical.
  • 120 kcal per kg. In enterally fed premature infants, total daily caloric requirement is dictated by energy expenditure at rest (50 kcal/kg), activity (15 kcal/kg), temperature regulation (10 kcal/kg), dietary thermogenesis (8 kcal/kg), faecal loss (12 kcal/kg) and growth (25 kcal/kg). This totals 120 kcal/kg.
  • 150 kcal per kg. 150 kcal/kg would be more appropriate for infants with on-going chronic disease, such as persistent respiratory disease. These infants have higher energy expenditure at rest and higher activity.
34
Q

Premature fusion of sutures

A

Craniosynostosis is premature closure of the cranial sutures, and is associated with varying skull shapes.

◾Primary craniosynostosis results from closure of one or more sutures owing to abnormalities of skull development.
◾Secondary craniosynostosis results from failure of brain growth and expansion.

Primary craniosynostosis:
◾Occurs 1:2000 births.
◾Cause is unknown in the majority.
◾Deformational forces are important in occipital and frontal plagiocephaly.
◾Early detection of posterior skull shape is critical to allow successful intervention (e.g. physical therapy for torticollis.)

Sagittal craniosynostosis:
◾Most common CSO affecting a single suture
◾~80% male
◾Results in scaphocepahly (boat-shaped head)
◾Frontal bossing, prominent occiput, normal occipto-frontal circumference, reduced biparietal diameter, small or absent anterior fontanelle
◾Nil hydrocephalus/normal ICP/normal neurology

Metopic craniosynostosis:
◾Association with 19p chromosome abnormality
◾Results in trigoncephaly
◾Pointed forehead and midline ridge, hypertelorism

Coronal Craniosynostosis:
◾18% of craniosynostosis
◾More common in females
◾Associated with Apert syndrome (with syndactyly) and Crouzon disease (with hypoplasia of the midface)
◾Unilateral - plagiocepahly, bilateral - brachycephaly, acrocephaly
◾Elevation of the eye socket, flattening of the ridge of the eye and displacement of the nose on the affected side, flat cheeks

Lamboid craniosynostosis: 
◾10-20%
◾More common in males
◾Right side affected in 70% cases
◾Flattening of occiput, bulging of ipsilateral forehead, ipsilateral ear is anterior and inferior

Multiple craniosynostosis
◾Oxycephaly - tower skull with undeveloped sinuses and shallow orbits, elevated ICP

Treatment:
◾Most cases are evident at birth as a result of premature suture fusion
◾Palpation of the suture reveals a prominent bony ridge
◾Fusion of the suture can be confirmed on skull x-ray
◾Premature fusion of only one suture rarely causes a neurological deficit
◾Sole indication for surgery is the child’s cosmetic appearance - prognosis depends on the suture involved and the degree of disfigurement
◾In general craniosynostosis can be surgically corrected with good outcomes and relatively low morbidity and mortality, especially for non-syndromic infants

FRACP exam paediatrics (25 decks)

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