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Klippel-Trenaunay Syndrome: A Case Report
Journal of Nepal Health Research Council
|November 26, 2016
Summary
Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder. This case highlights a neonate with KTS presenting with vascular malformations and limb abnormalities.
Area of Science:
- Medical Genetics
- Pediatric Medicine
- Vascular Biology
Background:
- Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular anomaly characterized by a triad of port-wine stains, venous malformations, and bony/soft tissue hypertrophy.
- While typically affecting the lower extremities, KTS can manifest in various body parts, including the upper limbs, face, and internal organs.
Observation:
- A term male neonate presented with a prominent port-wine stain.
- Clinical examination revealed multiple cystic swellings and soft tissue hypertrophy of the right upper limb.
- Additional findings included polydactyly of the right hand and syndactyly of the left hand.
Findings:
- Ultrasonographic imaging suggested the presence of vascular malformations.
- The constellation of clinical and ultrasonographic findings was consistent with a diagnosis of Klippel-Trenaunay syndrome.
- This case underscores the diverse and complex presentation of KTS in neonates.
Implications:
- Early diagnosis and multidisciplinary management are crucial for optimizing outcomes in KTS.
- This case contributes to the understanding of KTS variability and its impact on limb development.
- Further research into the genetic and molecular underpinnings of KTS is warranted to develop targeted therapies.
