von Reibnitz Donata, Plau Jacqueline, Puippe Gilbert D, Pieper Claus C, Gousopoulos Epameinondas, Lindenblatt Nicole
From the Department of Plastic Surgery and Hand Surgery, University Hospital Zurich, Zurich, Switzerland.
Department of Diagnostic and Interventional Radiology, University Hospital Zurich, Zurich, Switzerland.
Plast Reconstr Surg Glob Open. 2025 Aug 1;13(8):e7030. doi: 10.1097/GOX.0000000000007030. eCollection 2025 Aug.
We report a case of a 21-year-old woman with 13q deletion syndrome, a rare chromosomal disorder associated with developmental delays, craniofacial dysmorphism, and multiorgan abnormalities associated with central conducting lymphatic anomaly. Her symptoms included bilateral chylothorax, pulmonary lymphangiectasis, generalized edema, and recurrent respiratory distress. Despite conservative management, her condition progressively worsened, leading to significant edema affecting the tongue and upper airway. Magnetic resonance lymphangiography revealed a severe central lymphatic flow disorder with reflux into the pulmonary and cervical regions. Given the lack of further medical options, a thoracic duct-vein anastomosis in the left neck was planned in May 2023 to improve drainage. However, no distinct thoracic duct was identifiable during the procedure. Therefore, multiple deep cervical lymphovenous anastomoses (LVAs) were performed. Postoperatively, the patient experienced significant improvements in respiratory function, resolution of tongue and airway edema, and cessation of diuretic therapy. Her neurological and cognitive functions improved, with better communication, increased attention span, reduced ataxia, and improved motor control. This underscores a possible link between enhanced lymphatic drainage and brain function. Follow-up imaging showed reduced lymphatic reflux in the central system. This is the first reported case of central conducting lymphatic anomaly in a 13q deletion syndrome patient, highlighting the complexities of lymphatic reconstructive surgery in such cases. Deep cervical lymphovenous anastomoses may not only alleviate lymphatic dysfunction but also improve cognitive function by enhancing glymphatic drainage, supporting emerging evidence that lymphatic surgery may improve neurological dysfunction. Further research is needed to explore this potential therapeutic avenue.
我们报告了一例21岁患有13q缺失综合征的女性病例，这是一种罕见的染色体疾病，与发育迟缓、颅面畸形以及与中央传导性淋巴管异常相关的多器官异常有关。她的症状包括双侧乳糜胸、肺淋巴管扩张、全身性水肿和反复出现的呼吸窘迫。尽管采取了保守治疗，她的病情仍逐渐恶化，导致严重水肿影响舌头和上呼吸道。磁共振淋巴管造影显示严重的中央淋巴液流动障碍，伴有反流至肺部和颈部区域。鉴于缺乏进一步的治疗选择，计划于2023年5月在左颈部进行胸导管 - 静脉吻合术以改善引流。然而，手术过程中未发现明显的胸导管。因此，进行了多次颈深部淋巴静脉吻合术（LVA）。术后，患者的呼吸功能有显著改善，舌头和气道水肿消退，利尿剂治疗停止。她的神经和认知功能得到改善，沟通能力增强，注意力持续时间增加，共济失调减轻，运动控制能力提高。这强调了增强淋巴引流与脑功能之间可能存在的联系。随访影像学显示中央系统的淋巴反流减少。这是首例报道的13q缺失综合征患者的中央传导性淋巴管异常病例，突出了此类病例中淋巴重建手术的复杂性。颈深部淋巴静脉吻合术不仅可以缓解淋巴功能障碍，还可能通过增强类淋巴引流改善认知功能，支持了淋巴手术可能改善神经功能障碍的新证据。需要进一步研究来探索这一潜在的治疗途径。
