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