@article{Neves_Brito_Mota_2017, place={Porto, Portugal}, title={CONGENITAL LYMPHEDEMA}, volume={26}, url={https://revistas.rcaap.pt/nascercrescer/article/view/9021}, DOI={10.25753/BirthGrowthMJ.v26.i1.9021}, abstractNote={<p align="justify"><strong>Background:</strong> Primary lymphedema is chronic tissue swelling, most commonly present in lower limbs.</p><p align="justify"><strong>Case:</strong> An 1-month-old boy, previously healthy, was admitted with a recent firm edema of the left leg and foot and bilateral hydrocele. No godet signal, other inflammatory signs or joint limitation. He had overlapping fingers and trophic changes of toenails. At 5-months of age did similar edema in the right foot. His great-grandmother had bilateral lower limb edema since childhood. This is consistent with a Milroy disease. Posteriorly, he needed admissions for cellulitis. The ultrasound revealed no vascular changes. No mutation was found in FLT4 gene. He started lymphatic drainage with clear improvement. Currently, he is clinically stable.</p><p align="justify"><strong>Comments/Discussion:</strong> Rare disease characterized by anaplasia/hypoplasia of lymphatic vessels and edema of the lower limbs, usually bilateral, other manifestations included hydrocele, recurrent cellulitis and nail changes. It has autosomal dominant transmission, but the mutation is found only in 70% of affected individuals.</p>}, number={1}, journal={NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL}, author={Neves, Catarina and Brito, Nádia and Mota, Lourdes}, year={2017}, month={Apr.}, pages={68–70} }