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[Klippel-Trénaunay-Weber syndrome].

G Chessa Ricotti, F Giambi, R Martini

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics

|July 1, 1984

Summary

Klippel-Trénaunay Weber Syndrome, a rare vascular malformation, presented in a 12-year-old girl with limb asymmetry and skin changes. This case highlights the syndrome

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Area of Science:

Vascular Surgery
Pediatric Cardiology
Clinical Case Reports

Background:

Klippel-Trénaunay Weber Syndrome (KTWS) is a rare congenital disorder characterized by the triad of vascular malformations, soft tissue hypertrophy, and skeletal abnormalities.
It is a complex condition affecting blood vessels, lymphatic system, and bones, often presenting with significant clinical manifestations.

Observation:

A 12-year-old female patient presented with congenital flat angiomas on her lower limbs, progressively enlarging with growth.
Clinical examination revealed marble skin (cutis marmorata) and telangiectatic edema, predominantly affecting the left lower limb, causing asymmetry.
No internal organ involvement or other minor signs of the syndrome were noted in the patient or her family history.

Findings:

The patient was diagnosed with Klippel-Trénaunay Weber Syndrome based on the characteristic clinical features.
The absence of internal angiomas and a negative family history are notable aspects of this case presentation.
The progressive nature of the limb angiomas correlated with the patient's somatic growth.

Implications:

This case underscores the importance of early diagnosis and multidisciplinary management for Klippel-Trénaunay Weber Syndrome.
Understanding the phenotypic variability is crucial for accurate diagnosis and prognosis in pediatric vascular anomalies.
Further research into the genetic and molecular basis of KTWS may elucidate novel therapeutic targets.

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