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Case Reports: Rare disease
Thoracic venous malformation: a particular form of a visceral variant
  1. Inês Pessanha1,
  2. Paloma Triana2,
  3. Victor Martinez-Glez3,4 and
  4. Juan Carlos Lopez-Gutierrez2,5
  1. 1Department of Pediatric Surgery, Centro Hospitalar e Universitario de Coimbra EPE Hospital Pediatrico de Coimbra, Coimbra, Portugal
  2. 2Department of Pediatric Surgery, Hospital Universitario La Paz, Madrid, Spain
  3. 3Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain
  4. 4Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, ISCIII, Madrid, Spain
  5. 5Department of Pediatrics, Universidad Autonoma de Madrid, Madrid, Spain
  1. Correspondence to Dr Inês Pessanha; ipessanha3{at}gmail.com

Abstract

A teenage boy was admitted due to a thoracic mass with previous respiratory infections. The CT scan showed phleboliths in a cystic lesion with large draining channels. He also presented a mild thrombocytosis, elevated fibrinogen and D-dimer. Arteriogram revealed no abnormal arterial supply but venography proved venous draining channels as the major components of the lesion. The most important venous pedicle was embolised. However, 6 months later, CT scan showed no reduction in lesion size. Surgical resection was performed. Anatomopathological study described a venous malformation (VM) with a lymphatic component, and genetic testing found a typical mutation in PIK3CA and genetic variant in MAP3K3. This case reports a very rare pattern of thoracic vascular tumour. The authors aim to highlight the importance of genetic studies of VM with atypical presentation in order to achieve a definitive diagnosis.

  • Genetics
  • Paediatrics
  • Pathology
  • Interventional radiology
  • Paediatric Surgery

http://dx.doi.org/10.1136/bcr-2022-250307

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    Footnotes

    • Twitter @Inês Pessanha

    • Contributors All authors attest that they meet the current ICMJE criteria for Authorship. Planning and design: IP, PT and JC-LG. Acquisition of data, performing the procedures, reporting and conception: IP, PT, VM-G and JC-LG. Analysis and interpretation of data: IP, PT, VM-G and JC-LG. Revision: IP, PT, VM-G and JC-LG.

    • Funding This research was supported by the project FIS PI17/00519 financed by ISCIII, Fondo Europeo de Desarrollo Regional Funds (project FIS PI17/00519).

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.