Paudel Prayash, Paudel Neetika, Timalsina Manish
Bachelor of Medicine and Bachelor of Surgery, Maharajgunj Medical Campus, Tribhuvan University Teaching Hospital, Institute of Medicine, Kathmandu, Nepal.
Department of Internal Medicine, Maharajgunj Medical Campus, Tribhuvan University Teaching Hospital, Institute of Medicine, Kathmandu, Nepal.
J Med Case Rep. 2025 Jul 2;19(1):306. doi: 10.1186/s13256-025-05374-0.
Primary lymphedema, affecting 1.15 per 100,000 individuals, under 20 years is rare. It includes three types: major vessel abnormalities, congenital lymphatic valvular incompetence or aplasia, and lymph node fibrosis. This condition arises from inherent lymphatic abnormalities and can be linked to genetic mutations causing valvular dysfunction, hypoplasia, or aplasia. Clinically, it can be isolated or syndromic and can present as Milroy's disease or Meige's disease depending on onset and associated features. Lymphoscintigraphy often reveals aplasia (14%) or hypoplasia (56%). In this case, lymphoscintigraphy indicated right lower limb aplasia correlating with clinical findings of limb swelling. This is one of the very few cases of lymphatic aplasia confirmed by lymphoscintigraphy. Management involves a multidisciplinary team approach, focusing on symptom control and patient education, as the condition is incurable but manageable.
This is a case report of a 14-year-old boy from Southern Nepal with right limb swelling since birth and progressive scrotal and penile swelling for 7 years. Examination showed unilateral, painless non-pitting edema in the right leg, scrotum, and penile shaft. Imaging showed abdominal and left inguinal lymphadenopathy. Left inguinal lymph node biopsy indicated capillary hemangioma. Lymphoscintigraphy confirmed primary lymphatic aplasia with absent lymphatic channels in the right lower limb. Treatment focused on physiotherapy for symptom management, with regular monitoring.
Diagnosis of primary lymphedema is necessary for timely intervention to halt the progression and prevent complications. The most sensitive method of diagnosis is lymphoscintigraphy, with its advantage over conventional methods.
原发性淋巴水肿在20岁以下人群中发病率为十万分之一，较为罕见。它包括三种类型：主要血管异常、先天性淋巴管瓣膜功能不全或发育不全以及淋巴结纤维化。这种疾病源于先天性淋巴管异常，可能与导致瓣膜功能障碍、发育不全或缺失的基因突变有关。临床上，它可以是孤立性的或综合征性的，根据发病时间和相关特征可表现为米尔罗伊病或梅热病。淋巴闪烁造影常显示淋巴管发育不全（14%）或发育不良（56%）。在本病例中，淋巴闪烁造影显示右下肢淋巴管发育不全，与肢体肿胀的临床表现相符。这是经淋巴闪烁造影确诊的极少数淋巴管发育不全病例之一。治疗需要多学科团队协作，重点是症状控制和患者教育，因为这种疾病无法治愈但可控制。
这是一例来自尼泊尔南部的14岁男孩的病例报告，自出生起右下肢肿胀，阴囊和阴茎渐进性肿胀7年。检查发现右腿、阴囊和阴茎干出现单侧无痛性非凹陷性水肿。影像学检查显示腹部和左腹股沟淋巴结肿大。左腹股沟淋巴结活检显示为毛细血管瘤。淋巴闪烁造影确诊为原发性淋巴管发育不全，右下肢淋巴管缺如。治疗重点是通过物理治疗控制症状，并定期监测。
原发性淋巴水肿的诊断对于及时干预以阻止病情进展和预防并发症至关重要。最敏感的诊断方法是淋巴闪烁造影术，它比传统方法更具优势。
