Klippel-Trenaunay-Weber Syndrome. A case report

Abstract

Purpose: Klippel-Trenaunay weber syndrome is a rare disorder characterised by the triad of cutaneus hemangiomata located on the legs, buttocks, abdomen, varicose veins and bony and soft tissue hypertrophy with associated lengthening of affected limbs. This syndrome was initially described by Klippel and Trenaunay in 1990. Methods: An 18-month-old girl was born to a 30 years old G2P2 mother from Cukurova University, Department of Pediatrics. She had growth retardation, big foot, Macrodactyly, syndractyly, hyperpigmented vascular naevus on his right neck, bilateral hypertrophy of soft tissue on gluteal area, varicose veins in legs and right trunk. Abdominal CT and Doppler ultrasonography were performed and cytogenetic investigation was done. Results: Cytogenetic investigation did not reveal abnormality of chromosomes. Abdominal-CT chowed multiple retroperitoneal soft tissue densities secondary to the abstruction of lymphatic canals. There were not any vascular abnormality shown by coloured Doppler ultrasonography. Conclusions: The etiology in Klippel Trenaunay-Weber Syndrome is not. clear. The basic defect is assumed to involve vascular embryogenesis and can result in malformations of almost any body area. Our case was diagnosed as a variant of Klippel-Trenaunay-Weber syndrome (KTWS). It was thought that the patient is interesting because of multiple soft tissue densities shown by the abdominal CT. It was thought that there is a de novo mutation in this family.