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


    • 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