A Case of Klippel-Trenaunay-Weber Syndrome with Facial Hemihypertrophy and Hemimegalencephaly / 대한소아신경학회지

ABSTRACT

Klippel-Trenaunay-Weber syndrome(KTWS) is a rare, and sporadically occurring disorder characterized by hemihypertrophy(unilateral limb hypertrophy), varicose veins, hemangiomas and occasionally arteriovenous malformations. In 1900, noted French physicians Klippel and Trenaunay first described the syndrome in 2 patients presenting with port-wine stains and varicosities of extremities associated with hypertrophy of the affected limb's bones and soft tissues. There are other, and less frequent abnormalities. These may include limbs that are atrophic, fingers and toes that are disproportionately large or small, digits that are webbed(syndactyly), and too many digits(polydactyly), or too few digits(oligodactyly). The hemangiomas can occur in internal organs including the intestinal and the urinary tract systems. The exact cause of KTWS remains to be elucidated, although several theories exist. Most cases are sporadic, although a few cases in the literature report a multifactorial patterns of inheritance. We report a case of Klippel-Trenaunay-Weber syndrome in a 3-year-old boy who had hypertrophy of the left facial bones and tissues, large hemangiomas on the right trunk and back, and hypertrophy of the right upper and lower limb's soft tissues.