Loraine Fabri, MD
B.C. Children’s Hospital, University of British Columbia; Vancouver, BC

Session Description

We report the case of a 20 months old male, born at term with Noonan’s syndrome and lymphangiectasia in the neck, mediastinum and chest, associated with severe tracheo- and bronchomalacia. He was symptomatic from birth, dependent to invasive ventilation and did not respond to medical interventions including aggressive diuresis, medium-chain triglycerides diet, octreotide and propranolol. He was started on trametinib with rapid and significant clinical and radiological improvement. The patient was rapidly weaned off respiratory support following investigations and remains asymptomatic from a respiratory standpoint to this day.

Learning Objectives

At the end of this presentation, attendees will be able to:

  • Describe the physiopathology features leading to lymphangiectasia in Noonan syndrome
  • Demonstrate the effect of MEK inhibitor on lymphangiectasia

CanMEDS Roles: Collaborator, Health Advocate, Medical Expert