Klippel-Trénaunay Syndrome with Intracranial Arteriovenous Malformation: A Rare Presentation

Klippel-Trénaunay syndrome (KTS) is a rare vascular congenital anomaly affecting less than 200,000 people in the United States. Vascular malformations associated with KTS tend to affect slow flow systems: venous, capillary, and lymphatic systems. The nature of the syndrome leads to a higher risk for the development of arteriovenous malformations. Our case presentation describes a patient with KTS and an associated rare presentation of intraventricular arteriovenous malformation (AVM). 1. Introduction In 1900, Klippel-Trénaunay syndrome (KTS) was first described and identified by two French scientists named Maurice Klippel and Paul Trénaunay. Later, in 1907, a German-British physician named Frederick Weber identified similar cases as described by Klippel and Trénaunay [1]. For this reason, this syndrome is referred to as either Klippel-Trénaunay-Weber syndrome or KTS. This is a rare syndrome that involves a congenital malformation of veins, capillaries, and/or lymphatics, which leads to soft tissue hypertrophy and port-wine stains. These three descriptions serve to show the main features of the syndrome, of which two out of three confirm the diagnosis. The cause of KTS remains unknown, but it is believed to be the result of an intrautero insult in early gestation [2]. The severity of this syndrome presents with a wide spectrum of findings from asymptomatic cosmetic defects to debilitating hypertrophy of the limbs [3]. Patients with KTS often develop arteriovenous malformations (AVMs); however, only about 10% of these AVMs affect the head and neck [4]. In this paper, we describe a rare case where a patient with KTS is found with a massive intraventricular AVM. 2. Case Presentation A 42-year-old female presented to the emergency department with trauma to the head. Upon questioning the nature of trauma, it was found that she slipped in the bathroom and hit her head on the edge of the bathtub. Physical examination of the patient was unremarkable apart from a bruise and swelling on the forehead for which the patient is seeking medical care. Her past medical history consisted of KTS, diagnosed during childhood. On a prior visit one year ago, she was documented to have lymphatic malformations on her pelvic computed tomography (CT) (Figures 1 and 2) along with venous phleboliths on the X-rays of her right lower limb (Figures 3 and 4). Figure 1: Axial contrast enhanced (arterial phase) CT of the pelvis demonstrating abnormal dilated lymphatic channels (arrows). Figure 2: Axial contrast enhanced (arterial phase) CT of the pelvis demonstrating abnormal dilated