Yacobus Danny Jaya, Ngasu Natashya Phillipa, Sanjaya Hayyu Rafina, Corebima Brigitta Ida Resita Vebrianti
Department of Paediatrics, Ende Regional General Hospital, Ende, East Nusa Tenggara, Indonesia.
Neonatology Division, Department of Paediatrics, Brawijaya University Faculty of Medicine, Malang, East Java, Indonesia
BMJ Case Rep. 2025 Mar 31;18(3):e263690. doi: 10.1136/bcr-2024-263690.
This case report details a newborn in Ende, Indonesia, diagnosed with primary congenital lymphoedema, evidenced by bilateral lower limb swelling. This rare condition is characterised by developmental defects in the lymphatic system, leading to a fluid balance disruption. Diagnosis was primarily clinical, relying on thorough patient history and physical examination, given the limited resources for advanced diagnostic tools. The report emphasises the importance of supportive care, including meticulous skin care and manual lymph drainage, to improve life quality and minimise infection risks. It highlights the diagnostic and management challenges faced in low-resource settings and stresses the need for awareness and early intervention to manage such congenital conditions effectively.
本病例报告详细介绍了印度尼西亚恩德市的一名新生儿，该新生儿被诊断患有原发性先天性淋巴水肿，表现为双侧下肢肿胀。这种罕见疾病的特征是淋巴系统发育缺陷，导致体液平衡紊乱。由于先进诊断工具的资源有限，诊断主要依靠全面的患者病史和体格检查。该报告强调了支持性护理的重要性，包括精心的皮肤护理和手法淋巴引流，以提高生活质量并将感染风险降至最低。它突出了资源匮乏地区在诊断和管理方面面临的挑战，并强调了提高认识和早期干预以有效管理此类先天性疾病的必要性。
