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12.09.04 Neonatal unit

VACTERL / VATER Syndrome


CCHS

  • Congenital Central Hypoventilation Syndrome AKA Ondine's curse
  • Aetiology
    • Congenital
    • or Developed due to severe neurological trauma to the brainstem
  • Prevalence: 1/200,000 live births
  • Pathophysiology
    • Inborn failure of autonomic control of breathing
    • Causes apnoea when sleeping
    • Children develop life-threatening episodes of apnea with cyanosis, usually in the first months of life
  • Management
    • Most people with Ondine's curse do not survive infancy, unless they receive ventilatory assistance during sleep
    • An alternative to a mechanical ventilator is Phrenic Nerve Pacing/diaphragm pacing
  • Associations


Neonatal Baby Check
  • Listen and observe
    • Assess overall appearance
      • Note general tone, sleepiness and rousability
      • Observe general condition, proportions and maturity
    • Look carefully
      • Evidence of jaundice (preferably in bright, natural light)
      • Are there any birthmarks, rashes or other skin abnormalities?
    • Listen
      • To the baby's cry and note its sound
    • Weigh
  • Head
    • Shape, presence of fontanelle and whether normal, sunken or bulging
    • Measure and record head circumference on growth chart
    • Assess facial appearance and eye position
    • Look for any asymmetry or abnormality of facial form
  • Eyes
  • Ears
    • Shape and size
    • Are they set at the normal level or 'low set'?
    • Check patency of external auditory meatus
  • Mouth
    • Colour of mucous membrane, observe the palate
    • Check suckling reflex by inserting a clean little finger gently inside baby's mouth
  • Arms and hands
    • Are they of normal shape and moving normally?
    • Look for evidence of traction birth injury (eg Erb's palsy) by checking neck, shoulders and clavicles
    • Count fingers and observe their shape – is there any evidence of clinodactyly (incurving of fingers)?
    • Check palmar creases – are they multiple or single?
      • A single palmar crease may be normal, but can be a sign of Down's syndrome
  • Peripheral pulses
    • Check brachial, radial and femoral pulses for rate, rhythm and volume
    • A hyperdynamic pulse may suggest persistent ductus arteriosus
    • A weak pulse may occur with a congenital cardiac anomaly (impairing cardiac output and in conjunction with other signs from the examination)
    • Check for radio-femoral delay (aortic coarctation)
  • Heart
    • Check cardiac position by palpation and feel for any thrill or heave
    • Listen to the heart sounds carefully and for any added sounds or murmurs
  • Lungs
    • Watch respiratory pattern, rate and depth for a few seconds
    • Look for any evidence of intercostal recession
    • Listen for stridor
    • Auscultate lung fields for for added sounds
  • Abdomen
    • Look at abdominal girth and shape
    • Carefully check the umbilical stump for infection or surrounding hernia
    • Palpate gently for organs, masses or herniae
    • It is common to be able to feel the liver and/or spleen in healthy newborns
    • Check the external genitalia carefully (see Ambiguous Genitalia)
    • Palpate for testicles in boys
    • Inspect the anus (has meconium been passed?)
  • Back
    • Look carefully at skin over back and at spinal curvature/symmetry
    • Is there any evidence of spina bifida occulta or pilonidal sinus hidden by flesh creases or dimples?
    • Palpate the spine gently
  • Hips
  • Legs
    • Watch movements at each joint
    • Check for any evidence of talipes equinovarus
    • Count toes and check shape
  • CNS
    • Observe tone, behaviour, movements and posture
    • Elicit newborn reflexes only if there is cause for concern
Notes
  • 3541 / 5341 / 1245
  • Sijo Francis / Matt
  • Congenital heart abnormalities massively run in families
  • Congenital talipes equinovarus (CTEV)
    • Fixed or positional
  • Imperforate anus
    • Low can (sometimes) be fixed directly
    • High often form fistulae to the GUT and require a 3-stage operation to fix
  • Hip tests
    • Ortolani: Is is already out?
    • Barlow: Can I make it come out?
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