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Right lower limb lymphatic aplasia in lymphoscintigraphy: a case report
Prayash Paudel1, Neetika Paudel2, Manish Timalsina3
1Bachelor of Medicine and Bachelor of Surgery, Maharajgunj Medical Campus, Tribhuvan University Teaching Hospital, Institute of Medicine, Kathmandu, Nepal. prayashpaudel41@outlook.com.
Journal of Medical Case Reports
|July 3, 2025
Summary
Primary lymphedema is a rare condition characterized by lymphatic abnormalities. This case report highlights lymphatic aplasia in a young boy, emphasizing lymphoscintigraphy
Area of Science:
- Pediatric rare diseases
- Vascular anomalies
- Lymphatic system disorders
Background:
- Primary lymphedema is a rare congenital condition affecting lymphatic vessels, with an incidence of 1.15 per 100,000 individuals under 20.
- It manifests in various forms, including major vessel abnormalities, lymphatic valvular incompetence or aplasia, and lymph node fibrosis, often linked to genetic factors.
- Clinical presentations range from isolated cases to syndromic forms like Milroy's or Meige's disease, with diagnostic imaging frequently showing lymphatic hypoplasia or aplasia.
Purpose of the Study:
- To report a rare case of primary lymphedema.
- To illustrate the diagnostic utility of lymphoscintigraphy in confirming lymphatic aplasia.
- To emphasize the importance of early diagnosis and multidisciplinary management for primary lymphedema.
Main Methods:
- A case report detailing a 14-year-old boy with congenital right limb swelling and progressive genital edema.
- Diagnostic evaluations included physical examination, imaging (lymphadenopathy), left inguinal lymph node biopsy (capillary hemangioma), and lymphoscintigraphy.
- Management focused on physiotherapy for symptom control and regular monitoring.
Main Results:
- The patient presented with unilateral, painless, non-pitting edema of the right leg, scrotum, and penile shaft.
- Lymphoscintigraphy confirmed primary lymphatic aplasia, demonstrating absent lymphatic channels in the right lower limb.
- The case highlights a rare instance of confirmed lymphatic aplasia via lymphoscintigraphy.
Conclusions:
- Timely diagnosis of primary lymphedema is crucial for halting disease progression and preventing complications.
- Lymphoscintigraphy is identified as the most sensitive diagnostic method for primary lymphedema, surpassing conventional techniques.
- Effective management involves a multidisciplinary approach focused on symptom control and patient education for this incurable but manageable condition.
