Giant congenital lymphedema in an infant with suspected milroy disease (hereditary lymphedema type IA): a case report

Abstract

Milroy disease is a rare hereditary lymphatic disorder caused mainly by VEGFR3 mutations and typically presents with lower limb edema. We report a severe unilateral case in a 6-month-old boy with massive right-leg elephantiasis that impaired motor development. Examination and lymphoscintigraphy confirmed lymphatic aplasia and an obstructive pathology. Due to progressive enlargement and functional limitation, surgical debulking with excision of fibrofatty tissue and Z-plasty closure was performed, followed by Complex Decongestive Therapy. Postoperatively, the patient demonstrated good wound healing, a preserved range of motion, and improved function. This case highlights the importance of early multidisciplinary management and the role of surgical intervention in suspected extreme infantile Milroy disease.