A neonate with Klippel-Trénaunay syndrome: a case report

J Med Case Rep. 2021 Sep 7;15(1):447. doi: 10.1186/s13256-021-03029-4.

Abstract

Background: Klippel-Trénaunay syndrome is a rare congenital capillary-lymphatic-venous condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony and/or soft-tissue hypertrophy. It has a very low incidence of about 1:100,000.

Case presentation: We report the case of 21-day-old neonate Black African female (born in Uganda) with Klippel-Trénaunay syndrome who presented with macrodactyly and ectrodactyly on the left foot, as well as numerous port wine stains on the left thoracoabdominal region and anteroposterior left lower limb. Color Doppler ultrasound examination of the left lower limb and abdomen revealed varicose veins without signs of arteriovenous fistula.

Conclusion: The report presents the case of a neonate with a rare congenital vascular disorder type Klippel-Trénaunay syndrome.

Keywords: Hypertrophy; Klippel–Trénaunay syndrome; Port wine stain; Vascular malformation.

Publication types

  • Case Reports

MeSH terms

  • Arteriovenous Fistula*
  • Female
  • Fingers
  • Humans
  • Infant, Newborn
  • Klippel-Trenaunay-Weber Syndrome* / diagnosis
  • Klippel-Trenaunay-Weber Syndrome* / diagnostic imaging
  • Limb Deformities, Congenital*
  • Port-Wine Stain* / diagnostic imaging