INTRODUCTION: Lymphangiomatosis is a rare disorder characterized by multiple neoplasms and abnormal development of the lymphatic system. The thorax and neck are the most common sites involved, and disseminated disease can lead to a particularly agressive variant.
CASE PRESENTATION: A previously healthy 18-month-old male presented with a one week history of progressive dyspnea, with no history of fever, cough, or trauma. Chest imaging demonstrated a massive left pleural effusion (Figure 1). Thoracoscopy and pleural fluid analysis revealed chylothorax, and an ill-defined cystic lesion noted on the pleural surface of the left upper lobe. Biopsy of the pleural lesion was unremarkable. Despite continuous total parenteral nutrition, massive loss of chyle required repeat thoracoscopic exploration, which confirmed significant chyle leak after administration of a cream meal. The post-operative period was complicated by the development of empyema requiring antibiotic treatment and thoracoscopic debridement and drainage of loculated fluid. Following thoracic duct ligation, no further pleural fluid accumulation occurred. Evaluation for the underlying etiology of chylothorax was negative including a skeletal survey, abdominal CT, and several lung/pleural biopsy samples. The patient was discharged home in good condition. Five months later, he was rehospitalized due to significant respiratory distress with hypoxemia and left chest wall soft tissue swelling following an acute febrile illness. Chest imaging demonstrated bilateral pleural effusions, edema of the left chest wall with extension into subcutaneous tissue, and lytic bone lesions of the left humerus and clavicle. Thoracoscopic exam of the left pleural space revealed small effusion and edematous visceral pleura with dense adhesions. Partial pleural debridement, incisional biopsy of the chest wall soft tissue, and bone biopsies were performed. The procedure was complicated by unexpected cardiac arrest and death due to refractory shock. Autopsy findings showed lymphatic vascular malformations within the interlobular septa and subpleural regions of the upper and lower lobes of the left lung, the deep soft tissues of the neck and left chest wall, and involvement of the periosteum of the left clavicle and proximal humerus consistent with lymphangiomatosis. The morphology and immunostaining were consistent with the diagnosis (Figure 2).
DISCUSSIONS: Lymphangiomatosis is characterized by widespread and progressive abnormality of the lymphatic system. It typically presents in late childhood, but can occur from birth up to 80 years. Lesions can develop in any tissue, but lungs, mediastinum, pleura, chest wall, and spleen are most frequently involved, and bone lesions are common. In a recent literature review of 52 cases with thoracic lymphangiomatosis, chylothorax was the most common presentation (49%) followed by bone lesions (39%). The coexistence of lytic bone lesions and chylothorax serves as an important diagnostic clue, however, histologic examination is required for definitive diagnosis. Lymphangiogram, and recently, whole body lymphoscintigraphy can be used for visualization of the lymphatic vasculature. MRI is more sensitive than bone scan, and can reveal unsuspected bony lesions as well as the extension of soft tissue lesions. The prognosis of disseminated lymphangiomatosis is often poor, and depends on the extent of the disease. Involvement of lung or other visceral organs portends a particularly aggressive course. As seen in the case, infections can abrubtly worsen the pace of the disease. Surgical options are limited to the drainage of pleural and pericardial fluid, pleurectomy, chemical pleuredesis, pleuro- peritoneal drainage, and ligation of the thoracic duct. Systemic chemotherapy with interferon alfa, radiotherapy, ocreotide for neonatal chylothorax, and complete resection of chest wall have been reported successful in isolated cases.
CONCLUSION: The diagnosis and management of lymphangiomatosis is challenging. Diagnosis require a high index of suspicion, and should be considered in cases of unexplained chylothorax.
DISCLOSURE: Gulnur Com, None.