안면편측비대 및 편측큰뇌증이 동반된 Klippel-Trenaunay-Weber 증후군 1례

A Case of Klippel-Trenaunay-Weber Syndrome with Facial Hemihyp ertrophy and Hemimegalencephaly

Klippel-Trenaunay-Weber 증후군은 국내 발표된 증례가 소수 있으나, 본 증례와 같이 좌측 안면부와 반대측 사지의 편측 비대가 발생하면서, 신체의 일부에 화염상 모반이 분포되어 있는 경우는 발표된 증례가 매우 드물기에 보고하는 바이다.

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 portwine 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.