Lymphangiomatosis with pulmonary, mediastinal, and spinal involvement in a pediatric patient: a case report.

BACKGROUND: Lymphangiomatosis is a rare disorder characterized by abnormal proliferation and dilation of lymphatic vessels, resulting in non-specific clinical manifestations. This report describes the case of an 8-year-old male patient with lymphangiomatosis involving the lungs, mediastinum, and spine, with the objective of promoting awareness and understanding of this condition. CASE PRESENTATION: An 8-year-old male patient presented with chest tightness. Two years ago, the patient underwent decortication of the pleural fibrous plate due to empyema. Within two months after the operation, the patient successively developed chylothorax and chylopericardium. Chest CT revealed thickening of the interlobular septa and peribronchovascular interstitial tissue in both lungs. Spinal MRI showed scoliosis in the cervicothoracic region, flattening of several vertebral bodies, and multiple osteolytic lesions. Pathological examination of mucosal tissue obtained from the basal segment of the left lower lobe of the lung via bronchoscopy confirmed a diagnosis of lymphangiomatosis. The patient’s condition improved significantly after three weeks of treatment with sirolimus and bevacizumab, with marked alleviation of the chest tightness symptoms during the 23-month follow-up period. CONCLUSION: Lymphangiomatosis is associated with indolent progression and non-specific clinical/radiological features, frequently manifesting as multiorgan involvement. Diagnostic suspicion should arise when chylous effusions coexist with osteolytic lesions, although histopathological verification remains the gold standard. Although there is no current consensus on therapeutic strategies, emerging pharmacological interventions including the use of sirolimus, bevacizumab, propranolol, interferon-α, and tyrosine kinase inhibitors, which demonstrate variable efficacy. This case underscores the importance of multidisciplinary collaboration in the management of complex lymphatic malformations and indicates the potential of targeted therapies in pediatric patients.