Abstract
BackgroundKlippel–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 presentationWe 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.ConclusionThe report presents the case of a neonate with a rare congenital vascular disorder type Klippel–Trénaunay syndrome.
Highlights
Over a hundred years ago, French physicians Klippel and Trénaunay described for the first time a rare congenital disorder named Klippel–Trénaunay syndrome (KTS) [1] with a very low incidence of about 1:100,000 [2].KTS is a capillary–lymphatic–venous malformation associated with soft-tissue and skeletal hypertrophy and is clinically recognized by a triad of capillary malformations, atypical venous malformations, and bony and/or soft-tissue hypertrophy; presence of any two of these features will confirm the diagnosis [3].The syndrome is usually diagnosed at birth, but it can be found in older children and adults if not diagnosed in time
The report presents the case of a neonate with a rare congenital vascular disorder type Klippel–Trénaunay syndrome
We have presented the case of a 21-day-old female with a rare vascular disorder type KTS
Summary
Over a hundred years ago, French physicians Klippel and Trénaunay described for the first time a rare congenital disorder named Klippel–Trénaunay syndrome (KTS) [1] with a very low incidence of about 1:100,000 [2]. We present the case of a neonate who was admitted with features of Klippel–Trénaunay syndrome. Case presentation A 21-day-old neonate Black African female was delivered by normal spontaneous vaginal delivery at 39 weeks gestation with no complications. She was born to a 19-yearold healthy G1 + P1 + 0 mother who attended four antenatal-care visits. These features were compatible with a diagnosis of Klippel–Trénaunay syndrome. We performed a color Doppler ultrasound examination of the left lower limb and abdomen, which showed varicose veins and no signs of arteriovenous fistula, confirming the clinical diagnosis of KTS. A definitive diagnosis with genetic testing and extensive family history and examination was not possible due to financial constrains.
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