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Peer-reviewedCC BYFrontiers in surgery

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

  • Yoyos Dias Ismiarto1
  • Teuku Aditya Kemal1
  • Sudaryanto1
  • Banan Fajar Rusbi1
  • Frank Don Esparansa Runtuboi1
  1. 1Department of Orthopaedic and Traumatology, Sub-Division of Pediatric Orthopaedics, Universitas Padjadjaran, Hasan Sadikin Hospital , ,
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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.

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Cite

BibTeXRIS
BibTeX
@article{ismiarto2026giant,
  title = {{Giant congenital lymphedema in an infant with suspected milroy disease (hereditary lymphedema type IA): a case report}},
  author = {Yoyos Dias Ismiarto and Teuku Aditya Kemal and Sudaryanto and Banan Fajar Rusbi and Frank Don Esparansa Runtuboi},
  journal = {Frontiers in surgery},
  year = {2026},
  month = oct,
  doi = {10.3389/fsurg.2026.1902100},
  url = {https://europepmc.org/article/PMC/PMC13718031},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Giant congenital lymphedema in an infant with suspected milroy disease (hereditary lymphedema type IA): a case report
AU  - Yoyos Dias Ismiarto
AU  - Teuku Aditya Kemal
AU  - Sudaryanto
AU  - Banan Fajar Rusbi
AU  - Frank Don Esparansa Runtuboi
PY  - 2026
DA  - 2026/10/05
JO  - Frontiers in surgery
DO  - 10.3389/fsurg.2026.1902100
UR  - https://europepmc.org/article/PMC/PMC13718031
AB  - 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.
SN  - 2296-875X
ER  -