Clinical characteristics and genetic analysis of a patient with diffuse pulmonary lymphangiomatosis: a case report and literature review.

ABSTRACT:

Background

Diffuse pulmonary lymphangiomatosis (DPL) is a rare pulmonary disorder, which affects the lymphatic channels from the mediastinum to the pleura. DPL is often misdiagnosed or missed due to the lack of clear specificity and definitive medical therapies. In most cases, the disease progresses to chronic morbidity or even death.

Case presentation

Here, we have reported a case of DPL in a 17-year-old boy who presented with hemoptysis and progressive breathlessness. The diagnosis was confirmed based on the typical imaging features observed through high-resolution computed tomography, chest magnetic resonance imaging, and lymphangiography. Furthermore, we have presented the genetic characteristics of the patient and his parents and discovered the following heterozygous va

SUBMITTER: Feng YX 

PROVIDER: S-EPMC11817988 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature