# Case Report: Diffuse pulmonary lymphangiomatosis in a child

**Authors:** Ya-nan Zhang, Zhen Yuan, Jin-chen Du, Bin Liu, Fu Li, Shou-Cai Hu, Qing-Xin Li

PMC · DOI: 10.3389/fped.2025.1591611 · Frontiers in Pediatrics · 2026-01-05

## TL;DR

A 12-year-old boy with a rare lung condition called generalized lymphatic anomaly showed improvement after surgery and medication.

## Contribution

This case adds to the limited understanding of pediatric GLA and supports the use of mTOR inhibitors in treatment.

## Key findings

- Symptomatic remission was achieved using pericardiectomy, drainage, and sirolimus.
- Immunohistochemistry confirmed the diagnosis, distinguishing it from similar conditions.
- The case emphasizes the importance of multidisciplinary approaches in diagnosing rare pediatric diseases.

## Abstract

We report a rare case of generalized lymphatic anomaly (GLA) in a 12-year-old male, presenting with intermittent cough, expectoration, and hemoptysis exacerbated by strenuous activity. Key features included bilateral pleural/pericardial effusions; chest/abdominal CT showed diffuse mediastinal infiltration, bronchovascular/interlobular septal thickening, and extrathoracic extension to periaortic abdominal tissues. Definitive diagnosis was confirmed by thoracoscopic biopsy and immunohistochemistry (CD31+, D2-40+, Ki-67 ≈ 3%), differentiating it from mimics like pulmonary lymphangiectasia. The patient achieved symptomatic remission after pericardiectomy, thoracic catheter drainage, and postoperative sirolimus. This case enriches pediatric GLA literature, highlights multidisciplinary diagnosis value, and supports mTOR inhibitors’ role in pediatric GLA management.

## Linked entities

- **Chemicals:** sirolimus (PubChem CID 5284616)
- **Diseases:** generalized lymphatic anomaly (MONDO:0015408)

## Full-text entities

- **Genes:** PECAM1 (platelet and endothelial cell adhesion molecule 1) [NCBI Gene 5175] {aka CD31, CD31/EndoCAM, GPIIA', PECA1, PECAM-1, endoCAM}, MTOR (mechanistic target of rapamycin kinase) [NCBI Gene 2475] {aka FRAP, FRAP1, FRAP2, RAFT1, RAPT1, SKS}
- **Diseases:** pulmonary lymphangiectasia (MESH:C537727), cough (MESH:D003371), pleural/pericardial effusions (MESH:D010996), hemoptysis (MESH:D006469), GLA (MESH:D044148)
- **Chemicals:** sirolimus (MESH:D020123)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

4 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12812872/full.md

## References

22 references — full list in the complete paper: https://tomesphere.com/paper/PMC12812872/full.md

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Source: https://tomesphere.com/paper/PMC12812872