Patient C
This patient was a 2-week old critically-ill 32 week preemie with
multiple medical complications including congenital heart block,
hydrops, respiratory distress syndrome, chylothorax and chyloperitoneum.
Clinical presentation was concerning for RASopathy syndrome, in
particular Costello syndrome (genetic studies not completed). After a
week trial of octreotide, vascular team was consulted and patient
switched to sirolimus due to persistent significant chylous effusions.
The initial dose of sirolimus was 1 mg/m2/day via NGT. Patient had
extensive chest tube output initially– 220 mL, 860 mL and 300 mL on
days 0, 1, and 2, respectively. Chest tube drainage markedly decreased
by day 3 with 39 mL and was minimal by day 6 at 8 mL, and chest tube was
removed on day 7. The sirolimus level remained subtherapeutic on day 6;
however, by day 9 reached therapeutic levels (Fig 1). The patient passed
away at two months of age due deteriorating cardiac function.