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Pulmonary lymphangiomatosis: insights into an ultra-rare disease.

Respir Res

November 2024

Center for Pulmonary Medicine, Department of Pneumology, Mainz University Medical Center, Mainz, Germany.

Article Synopsis
  • Pulmonary lymphangiomatosis (PL) is an extremely rare lung disease marked by abnormal lymphatic growth, with no established diagnostic or treatment guidelines, prompting a study to gather patient data.
  • The study reviewed 12 patients diagnosed from 1996 to 2022, noting that most were younger women, non-smokers, and commonly experienced symptoms like difficulty breathing and coughing up blood or lymphatic fluid, with severe impacts on lung function.
  • Treatment with sirolimus resulted in significant improvements for patients, although further research is needed to fully understand the disease and develop comprehensive treatment strategies.
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Intracranial hypertension is considered a common and severe complication of cryptococcal meningitis (CM), contributing to early mortality and neurological sequelae. Timely and effective control of elevated intracranial pressure is crucial for the management of CM. Herein, the authors present a case of ventricular abdominal wall drainage for CM accompanied with acute intracranial hypertension.

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Diffuse pulmonary lymphangiomatosis (DLP) is an extremely rare silent disease, characterized by proliferation and thickening of abnormal pulmonary, pleural, and mediastinal soft tissue lymphatic channels. Its clinical presentation is nonspecific symptoms such as cough, dyspnea, and hemoptysis. Tomographic findings for DLP include thickening of the interlobular septa and peribronchovascular interstitium and ground glass opacities.

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Generalized lymphangiomatosis (GLA) is a very rare condition in adults, characterized by diffused proliferation of lymphatic vessels that requires differential diagnosis from other vascular disorders such as cavernous or capillary hemangioma. This is because of overlapping characteristics on histopathological examination. Therefore, imaging features such as CT and MRI are useful to evaluate morphological characteristics, location, and the extent of the spread as well as differential diagnosis with other pathologies.

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Diffuse abdominal lymphangiomatosis is a rare and complex disease. It typically presents with non-specific gastrointestinal symptoms and characteristic cystic lesions or tumoral masses on imaging based on the literature to date. This report presents the rare case of a young man with an atypical form of diffuse abdominal lymphangiomatosis in the complete absence of cystic lesions or lymphangioma tumoral masses, thus presenting a unique diagnostic challenge.

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