Parkes Weber or Klippel-Trenaunay syndrome? Non-invasive diagnosis with MR projection angiography

Abstract

Klippel-Trenaunay and Parkes Weber (Klippel-Trenaunay-Weber) syndromes consist of vascular malformations of the capillary, venous and lymphatic systems combined with soft tissue and bone hypertrophy of the affected extremity. Klippel-Trenaunay syndrome is a pure low-flow condition, while Parkes Weber syndrome is characterized by significant arteriovenous fistulas. The distinction of both entities is relevant, since the prognosis and therapeutic strategies differ significantly. Our purpose is to demonstrate that thick-slice dynamic magnetic resonance projection angiography (MRPA) is a non-invasive tool to detect arteriovenous shunting in Parkes Weber syndrome. Four patients underwent MR imaging and MRPA. MRPA demonstrated arteriovenous shunting in three patients. Arteriovenous shunting was characterized by early appearing draining veins. The time of arrival between normal arteries and pathological veins varied between less than 0.5 and 1.0 s. Therefore, the diagnosis in these cases could be specified as Parkes Weber syndrome. In all these cases, arteriovenous shunting was confirmed by intraarterial digital subtraction angiography. One patient showed normal results in MRPA and could be diagnosed as having Klippel-Trenaunay syndrome.

Imaging evaluation of fetal vascular anomalies

“…This imaging pattern did not fit with any of the vascular tumors in our cohort and thus these high-flow vascular malformations were not considered in the differential diagnosis [6]. In case 11, the capillary-lymphatic-arteriovenous malformation with overgrowth (also known as Parkes-Weber syndrome), the diagnosis was supported by the presence of hypervascularity of the involved tissues, signs of arteriovenous connections throughout the lesion on pulsed Doppler US and associated limb hypertrophy [31]. In this setting, the soft tissues are abnormal, unlike in an arteriovenous fistula or arteriovenous malformation.…”

Parkes Weber syndrome: a case of right lower limb hypertrophy

“…[1][2][3][4] Soon after, in 1907, Frederick Parkes Weber reported similar patients with cutaneous capillary malformations, soft tissue and bony hypertrophy along with extensive AVMs in a limb. [1][2][3][4][5] The International Society for the Study of Vascular Anomalies groups these two syndromes under vascular anomalies, however, they are still classified as separate entities and the eponymous names are retained. 6 The important distinction is that KTS does not include the presence of functionally significant AVMs.…”

Lymphatic malformations

“…Wird bei einem Patienten in einer Extremität mit Überwuchs auch eine AVM gefunden, kann es sich um ein Parkes-Weber-Syndrom handeln, das durch eine Mutation in "RAS-p21-protein-activator"(RASA)-Gen verursacht wird [33]. Sinnvoll ist es deshalb, eine dynamische MRT-Untersuchung durchzuführen, um entsprechend AVM darstellen zu können [34].…”