Klippel-Trenaunay Weber syndrome

Abstract

Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital malformation, characterized by constellation of arteriovenous malformation, cutaneous capillary malformation, and skeletal or soft-tissue hypertrophy. The exact cause of KTWS is unknown. We present a case of a 1 1/2-year-old boy with multiple swellings over the right lower extremity since birth which increased in size in proportion to his general growth. He was diagnosed clinically as Klippel-Trenaunay syndrome (KTS) which on Doppler imaging and on histopathology showed the presence of a multichanneled slow-flowing arteriovenous malformation. KTWS should be distinguished from KTS since clinical features, management, and prognosis of these two entities are distinctly different. Although the diagnosis is primarily clinical, confirmation requires laboratory and imaging studies. The present case is being reported as an interesting case which highlights the fact that distinction between KTWS and KTS may sometimes be difficult.