Zhang Xuehong, Wang Jiuling, Duan Shouxing, Yan Yongping, Wang Libin
Department of Pediatrics, Huazhong University of Science and Technology Union Shenzhen Hospital, Shenzhen, China.
BMC Pediatr. 2025 Jan 6;25(1):5. doi: 10.1186/s12887-024-05350-5.
Generalized lymphatic anomaly (GLA) is a rare congenital lymphatic malformation (LM) characterized by multiple infiltrating lymphangiomas in various tissues. Owing to its rarity, information on this disease is obtained mainly through case reports, leading to delayed diagnosis. In this study, we reported a case of generalized lymphatic anomaly in a pediatric patient manifesting as hemorrhagic pleural effusion.
A 6-year-old female presented with abdominal pain, shortness of breath, chronic cough with yellow sputum production, and diminished respiration accompanied by pleural effusion. Imaging revealed significant left-sided pleural effusion with mediastinal involvement, left lung atelectasis, and multiple cystic lesions in both liver and spleen. Thoracoscopic exploration was conducted in response to her active intrathoracic bleeding, which identified a persistently hemorrhagic mass in the left mediastinum. The mass in the left mediastinum was removed, and pathological examination confirmed hyperplasia and expansion of the papillary endothelial cells within the lymphatic vessels. After intensive anti-infection therapy and symptomatic and supportive treatment, the patient's condition improved significantly. The regular outpatient follow-ups were continued until July 2024. Subsequent positron emission tomography (PET)CT at another hospital revealed multiple skeletal lesions in the limbs. Following treatment with sirolimus, no recurrence of pleural effusion was observed, and the patient's condition remained stable.
In patients with generalized lymphatic anomalies (GLAs), involvement of the thoracic cavity may lead to hemorrhagic pleural effusion, thereby broadening the landscape of GLA phenotypic presentations. Furthermore, this case highlights the importance of complete radiological evaluation of susceptible patients with GLA to avoid diagnostic delay in this morbid condition. We also review recently discovered genetic changes underlying lymphatic anomaly development and the progress of treatment.
广泛性淋巴管异常（GLA）是一种罕见的先天性淋巴管畸形（LM），其特征是在各种组织中存在多个浸润性淋巴管瘤。由于其罕见性，关于这种疾病的信息主要通过病例报告获得，导致诊断延迟。在本研究中，我们报告了一例表现为出血性胸腔积液的儿科广泛性淋巴管异常病例。
一名6岁女性出现腹痛、呼吸急促、伴有黄色痰液的慢性咳嗽以及呼吸减弱并伴有胸腔积液。影像学检查显示左侧大量胸腔积液并累及纵隔，左肺不张，肝脏和脾脏均有多个囊性病变。因患者胸腔内有活动性出血，进行了胸腔镜探查，发现左纵隔有一个持续出血的肿块。切除了左纵隔的肿块，病理检查证实淋巴管内乳头状内皮细胞增生和扩张。经过强化抗感染治疗及对症支持治疗后，患者病情明显改善。持续进行定期门诊随访直至2024年7月。随后在另一家医院进行的正电子发射断层扫描（PET）CT显示四肢有多个骨骼病变。使用西罗莫司治疗后，未观察到胸腔积液复发，患者病情保持稳定。
在广泛性淋巴管异常（GLA）患者中，胸腔受累可能导致出血性胸腔积液，从而拓宽了GLA的表型表现范围。此外，该病例强调了对疑似GLA患者进行全面影像学评估的重要性，以避免在这种疾病中出现诊断延迟。我们还回顾了最近发现的淋巴管异常发生的基因变化及治疗进展。
