Swelling of Extremities in a Toddler: Primary Lymphedema?

Background: Primary lymphedema is a rare disorder, affecting mainly pediatric patients. It results from maldevelopment of the lymphatic vasculature. Its differential diagnosis is wide and includes secondary lymphedema (the most frequent), and several syndromes. Methods: We report the case of an 8 months old girl who presents primary Lymphedema, and we review the literature published on the topic. Conclusions: Diagnosis of primary lymphedema might be difficult since several syndromes might present swelling. We have recently diagnosed a case of primary Lymphedema. Since it is a pretty rare disorder we find it interesting for the scientific community, to learn about it. Besides, our two new contributions are the possibility of performing nuclear medicine before magnetic resonance or computed tomography, avoiding sedation and risk associated, and the accurate diagnosis made by an adult-specialized Nuclear Medicine Service, avoiding the inconvenience of going to a Pediatric Centre which might be far in distance.