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CC BY 4.0 · European J Pediatr Surg Rep. 2023; 11(01): e20-e24
DOI: 10.1055/a-2057-7177
Case Report

Successful Sirolimus Treatment for Recurrent Pericardial Effusion in a Large Cervicomediastinal Provisionally Unclassified Vascular Anomaly: A Case Report

Julio César Moreno-Alfonso 
1   Department of Pediatric Surgery, Hospital Universitario de Navarra, Pamplona, Spain
2   Doctoral School of Navarre, Universidad Pública de Navarra, Pamplona, Spain
,
María San Basilio Berenguer 
3   Department of Pediatric Surgery, Hospital Infantil La Paz, Madrid, Spain
,
María del Carmen Sarmiento Caldas 
3   Department of Pediatric Surgery, Hospital Infantil La Paz, Madrid, Spain
,
Jesús González Cayón 
4   Department of Pediatric Surgery, Hospital Universitario Reina Sofía, Córdoba, Spain
,
Santiago de la Puente 
5   Department of Pediatric Surgery, Hospital Universitario Niño Jesús, Madrid, Spain
,
Paloma Triana 
6   Department of Pediatric Plastic Surgery, Hospital Infantil La Paz, Madrid, Spain
,
Juan Carlos López-Gutiérrez 
6   Department of Pediatric Plastic Surgery, Hospital Infantil La Paz, Madrid, Spain
› Author Affiliations Funding None declared.
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Abstract

Provisionally unclassified vascular anomalies (PUVA) are a group of diseases with unique characteristics that make them unclassifiable within vascular tumors or malformations. We describe a PUVA as the cause of recurrent pericardial effusion and its response to sirolimus. A 6-year-old girl was referred with a cervicothoracic vascular anomaly, a violaceous, and irregular lesion in the neck and upper chest, diagnosed as “hemangioma”. She had pericardial effusion at the neonatal age that required pericardiocentesis, propranolol, and corticosteroids. She remained stable for 5 years, when she presented with a severe pericardial effusion. A magnetic resonance visualized a diffuse vascular image in the cervical and thoracic region with mediastinal extension. The pathological study showed a vascular proliferation in the dermis and hypodermis with positive staining for Wilms' Tumor 1 Protein (WT1) and negative for Glut-1. Genetic testing found a variant in GNA14, for which the diagnosis of PUVA was established. When a pericardial drain was placed without response, treatment with sirolimus was started with resolution of the effusion. Sixteen months later, the malformation is stable and there has been no recurrence of pericardial effusion. In a significant group of patients, definitive diagnosis is not possible despite pathological and genetic analysis. Mammalian target of rapamycin inhibitors may become a therapeutic option if symptoms are severe enough, with a low rate of reported side effects.

Keywords

vascular malformations - provisionally unclassified vascular anomaly - sirolimus - pericardial effusion - case report

Declaration of Patient Consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names or initials will not be published, and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.




Publication History

Received: 03 June 2022

Accepted: 13 December 2022

Accepted Manuscript online:
18 March 2023

Article published online:
17 May 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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