Acute respiratory compromise due to bilateral pneumothoraces in a patient with Rett syndrome.

ABSTRACT

This is a case of acute respiratory distress in a nine-year-old with severe Rett syndrome who required immediate anaesthetic assistance in the emergency department and during her subsequent hospital stay. Rett syndrome is a rare inherited neurodevelopmental disease that more commonly affects females. It is characterised by a period of normal development up to between six and 18 months of age, followed by a gradual but progressive loss of developmental skills leading to severe cognitive and physical decline. Other features include autistic-type behaviour, oral-motor and autonomic dysfunction and gastrointestinal disturbance. Patients can present for elective surgery for scoliosis correction, ear, nose and throat procedures or placement of a gastrostomy. They can also present acutely, either with an un-associated condition or due to aspiration from a poor gag or swallow. This report highlights the specific risks relevant to anaesthesia in patients with Rett syndrome, especially in considering the association with bilateral apical bullae and pneumothorax which could impact on the ventilation strategy.