Klippel-Trénaunay-Weber syndrome associated with abdominal aortic aneurysm in childhood

Abstract

Klippel-Trénaunay-Weber syndrome (KTWS), also known as angioosteohypertrophy syndrome, is a rare congenital malformation with unknown etiology characterized by the combination of capillary malformations (port-wine strain), venous varicosities, and a soft tissue or bony hypertrophy of the affected limb. It is known to be rarely associated with abdominal aortic aneurysm (AAA) in adults. We report the first published case of KTWS and a rapidly progressing symptomatic AAA undergoing open repair in a child. This underlines the importance of AAA screening and treatment rather than surveillance in patients with KTWS.

Fig 1

Clinical presentation of Klippel-Trenaunay-Weber syndrome (KTWS) with (A) gigantism of the right lower extremity and (B) computed tomography angiography finding of the associated symptomatic abdominal aortic aneurysm (AAA).

Fig 2

Intraoperative view (A) before and (B) after surgical bypass.

Fig 3

Histologic findings of the abdominal aortic aneurysm (AAA) wall. Alcian-blue/periodic acid Schiff-stained sections of the tunica media at (A) original magnification ×4 and (B) original magnification ×200 demonstrate loss of elastic fibers and microcystic mucoid degeneration. Remnants of normal tunica media are marked by an asterisk. Electron microscopic image (C) shows mucoid material (M), rarefaction of collagen fibers, and degenerated elastic fibers (EL).