Abstract | BACKGROUND: METHODS: We reviewed the medical records of all patients treated prenatally with sirolimus for rhabdomyomas. All fetuses had a clinical and molecular diagnosis of tuberous sclerosis complex (2012 Consensus Diagnostic Criteria, including a positive genetic test). Clinical history, mechanistic target of rapamycin inhibitor dosing and levels, outcome, and adverse events were reviewed after initiation of sirolimus treatment. RESULTS: Three fetuses were treated with maternal sirolimus. Dosing regimens and subsequent trough levels differed from 1 mg/day to 6 mg/day and <1.0 ng/mL to 12.2 ng/mL. Cardiac rhabdomyomas gradually shrank in all patients. Growth restriction was noted in one patient. No severe adverse events occurred during the treatment period. CONCLUSIONS: Maternal sirolimus appears to be a safe treatment option in prenatally detected rhabdomyomas with possible need for intervention. Follow-up visits with fetal ultrasound, echocardiography, and laboratory work should be performed weekly during the treatment period. The optimal dosing and trough level timepoints remain unclear. Based on our results, we recommend a sirolimus starting dose of at least 2 mg/m2/day, preferably 3-3.5 mg/m2/day to achieve a target trough level of 10-12 ng/mL.
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Authors | Daniel Ebrahimi-Fakhari, Gabrielle Stires, Eunice Hahn, Darcy Krueger, David Neal Franz |
Journal | Pediatric neurology
(Pediatr Neurol)
Vol. 125
Pg. 26-31
(12 2021)
ISSN: 1873-5150 [Electronic] United States |
PMID | 34624607
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2021 Elsevier Inc. All rights reserved. |
Chemical References |
- Antibiotics, Antineoplastic
- Sirolimus
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Topics |
- Antibiotics, Antineoplastic
(administration & dosage, pharmacology)
- Female
- Fetal Diseases
(drug therapy)
- Humans
- Pregnancy
- Rhabdomyoma
(drug therapy)
- Sirolimus
(administration & dosage, pharmacology)
- Tuberous Sclerosis
(drug therapy)
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