Innovative Strategies for the Management of a Massive Neonatal Rhabdomyoma

Abstract

Rhabdomyomas are histologically benign tumors known to be associated with tuberous sclerosis. The natural history predicts the majority of tumors to be asymptomatic and regress within the first year of life. We describe a neonate presenting on day 1 of life with cardiovascular collapse secondary to a massive rhabdomyoma. Surgical resection was excluded due to the extensive nature of the lesion and oral sirolimus, a mammalian target of rapamycin inhibitor, was commenced to promote tumor regression. The patient developed intractable arrhythmias requiring extracorporeal life support during therapy.

Treatment of Cardiac Rhabdomyomas with mTOR Inhibitors in Children with Tuberous Sclerosis Complex—A Systematic Review

“…One study classified as “other” was excluded as it was a notifying article about the planned randomized study of everolimus in CRs treatment [ 23 ]. Overall, 30 reports were included in the systematic review [ 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 ]. Three of the included articles partially duplicated the case reports [ 24 , 34 , 53 ].…”

“…Unfortunately, one patient treated with sirolimus died [ 40 ]. Since birth, this child required cardiovascular support due to large CRs originating from the left ventricular posterior wall and extending anteriorly around the right ventricle and right atrium.…”

“…However, one neonate experienced a pulmonary hemorrhage on the third day of everolimus therapy that was probably associated with highly exceeded everolimus serum concentration [ 43 ]. One patient died during the treatment, however, the child was in a critical condition since birth [ 40 ]. Only in two studies were the adverse events assessed using the standardized scale, i.e., Common Terminology Criteria of Adverse Events (CTCAE) [ 42 ].…”