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12.09.11 Teaching notes

Russell-Silver syndrome (RSS)
  • Growth disorder occurring in approximately 1/50,000 to 1/100,000 birth
  • May be associated with the use of assisted reproductive technologies such as in vitro fertilization
    • Like other imprinting disorders (e.g. Prader–Willi syndrome, Angelman syndrome, Beckwith–Wiedemann syndrome)
  • Symptoms are IUGR combined with some of:
    • SGA
    • Feeding problems
    • Hypoglycemia
    • Excessive sweating
    • Triangular shaped face with a small jaw and a pointed chin
    • Mouth tends to curve down
    • A blue tinge to the whites of the eyes
    • Head circumference disproportionate to a small body size
    • Wide and late-closing fontanelle
    • Clinodactyly
    • Body asymmetry
    • Continued poor growth with no "catch up" into the normal centile lines on growth chart
    • Precocious puberty
    • Low muscle tone
    • Gastroesophageal reflux disease
    • A striking lack of subcutaneous fat
    • PFO
    • Constipation

Dumping syndrome
  • Duodenum expands too quickly due to the presence of hyperosmolar food from the stomach
  • "Early" dumping begins concurrently or immediately succeeding a meal
    • Symptoms include nausea, vomiting, bloating, cramping, diarrhea, dizziness and fatigue
  • "Late" dumping happens 1 to 3 hours after eating
    • Symptoms include weakness, sweating, and dizziness
  • Many people have both types
  • It is speculated that "early" dumping is associated with difficulty digesting fats while "late" dumping is associated with carbohydrates

Primary vs Terminal Apnoea
  • Primary apnoea is followed by gasping
    • Infrequent, deep breaths
  • Terminal apnoea follows this
  • It's really hard to tell which one a baby is in!


Congenital cystic adenomatoid malformation (CCAM)

  • Congenital disorder similar to bronchopulmonary sequestration
  • Usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue
  • Fetus with CCAM is closely monitored during pregnancy and the CCAM is removed via surgery after birth
  • Most babies with a CCAM are born without complication and are monitored during the first few months
  • Many patients have surgery, typically before their first birthday
  • It is hypothesized that there are thousands of people living with an undetected CCAM 


Pulmonary sequestration

  • AKA bronchopulmonary sequestration or cystic lung lesion
  • A piece of tissue that ultimately develops into lung tissue is not attached to the pulmonary arterial blood supply
  • This sequestered tissue is not connected to the normal bronchial airway architecture
    • As a result, fails to function in, and contribute to, respiration

Dermoid cyst

  • Cystic teratoma
  • Contains developmentally mature skin complete with hair follicles and sweat glands, and other tissues
  • Almost always benign
  • Usually congenital, but may not be identified until later in life


Acute Respiratory Distress Syndrome
  • Acute onset
  • Chest X-Ray: Bilateral diffuse infiltrates of the lungs
  • No cardiovascular lesion
  • No evidence of left atrial hypertension
    • PaO2/FiO2 ratio equal to or less than 200 mmHg

Immunoreactive trypsinogen
(IRT)
  • Used as part of a newborn screening program to screen for an increased risk of cystic fibrosis
  • High levels also seen in acute pancreatitis

Notes

  • Constipation can lead to urinary retention
  • PEG = Percutaneous Endoscopic Gastrostomy
  • Nifedipine for paediatric HTN
  • Bilevel positive airway pressure (BPAP)
    • Not BiPAP
    • Continuous positive airway pressure (CPAP) mode
  • Cerebral Perfusion Pressure (CPP)
    • Subtract the intracranial pressure from the mean systemic arterial blood pressure
  • Thiopentone
    • Rapid-onset short-acting barbiturate general anaesthetic
  • Abdominal compartment syndrome
    • Occurs when the abdomen becomes subject to increased pressure
      • e.g. sepsis, severe abdominal trauma
    • Reduces blood flow to abdominal organs and impairs pulmonary, cardiovascular, renal, and gastro-intestinal (GI) function
  • Milrinone
    • Phosphodiesterase-3 inhibitor that works to increase contractility in a failing heart
    • Also works to vasodilate vessels which helps alleviate increased pressures (afterload) on the heart thus improving the heart's pumping action
  • Bosentan 
    • Dual endothelin receptor antagonist
    • Used in the treatment of pulmonary artery hypertension (PAH)
    • Potential for hepatotoxicity
  • PICC
    • Peripherally Inserted Central Catheter
  • Meropenem 
    • Ultra-broad spectrum injectable antibiotic
    • Beta-lactam
      • Carbapenem => highly resistant to most β-lactamases
  • Nutmeg liver from congestive hepatopathy
  • Propofol infusion syndrome (PRIS)
    • Affects patients undergoing long-term treatment with high doses of propofol
    • Can lead to cardiac failure, rhabdomyolysis, metabolic acidosis and renal failure and is often fatal
    • Hyperkalemia, hypertriglyceridemia, and hepatomegaly are also key features
    • More prevalent in children
  • Clonidine
    • Sympatholytic medication used to treat high blood pressure, some pain conditions, ADHD and anxiety/panic disorder
    • Centrally acting α2 adrenergic agonist
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