Adult Noonan’s syndrome and associated severe scoliosis. A case report and discussion of the anaesthetic implications.

Noonan’s syndrome is a relatively rare genetic disorder with distinct clinical manifestations. Surgery is usually required early on in life however many of these patients can present for surgery later in life. Specific challenges to the anaesthesia can include, coexistent cardiac abnormalities, risk of difficult intubation, bleeding abnormalities, scoliosis and the potential for triggering Malignant Hyperthermia. Although characteristic phenotypical appearances can become less distinct with age, many abnormalities persist along with new potential problems. We report a case of an adult male with Noonan’s syndrome who developed severe scoliosis and presented for elective hemorrhoid repair. The procedure was safely performed under low dose spinal saddle anaesthesia. We also review the relevant perioperative issues and the challenges that can be encountered when deciding on the most appropriate mode of anaesthesia.

Results of balloon pulmonary valvoplasty in children with Noonan’s syndrome

Pulmonary valve stenosis is common in patients with Noonan’s syndrome. The response to balloon valvoplasty varies.We assessed the correlation between re-intervention rate, immediate response, and the progress of the valve gradient over time after intervention.MethodsThis is a retrospective study conducted from 1995 to 2014.ResultsOf 14 patients identified, seven had re-intervention 28±54 months (range 3–149, median 3.3) after valvoplasty. These patients did not have a significant decrease in gradient after intervention. Their gradient subsequently decreased during follow-up and then became static before increasing years after intervention. In contrast, the gradient of patients not requiring further intervention continually reduced over time. Demographics did not differ between these groups.ConclusionWe could not identify predisposing factors for long-term success of pulmonary valvoplasty in Noonan’s patients, but the trajectory of gradients differs significantly between patients needing re-intervention from those who remain free from re-intervention.