Conus Medullaris-Cauda Arteriovenous Malformation and Klippel-Trenaunay Syndrome: What is the Treatment Goal?

Abstract

A 29-year-old man with Klippel-Trenaunay syndrome (KTS) presented with a symptomatic conus medullaris-cauda arteriovenous malformation (AVM) manifesting as back and right limb pain, which abruptly worsened with the onset of right limb weakness and urinary retention. He was treated by multisession endovascular embolization resulting in improved neurological status. KTS is a sporadic disease with unknown etiology, but genetic susceptibility may lead to the over-expression of angiogenic factors and increased angiogenesis. KTS may be exceptionally associated with slow-flow spinal AVM, but there is no consensus about the optimal treatment for these symptomatic lesions. Embolization treatment may represent a safe option to minimize complications and possibly improve the neurological status in patients with spinal AVM associated with KTS, if one or both legs are already impaired by hypertrophy or other vascular malformations. Genetic analysis may reveal an underlying angiogenesis change, so closer follow up might be indicated in selected patients.

A Patient with Cavernous Sinus Dural Arteriovenous Fistula Complicating Klippel-Trenaunay Syndrome

“…In all, 12 cases of KTS or KTWS complicated by cerebral aneurysm have been reported and one or more giant cerebral aneurysms were present in three cases of them. [4][5][6] KTS or KTWS was complicated by spinal AVM or fistula in 33 cases [7][8][9][10][11] and it tended to develop in the lower thoracic over the lumbar spinal cord. In addition, involvement of the Angiogenic factor with G-patch and FHA domain 1 (AGGF1) and phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA) genes in KTS has been reported.…”

“…Reduction of vascular lesions and tissue overgrowth in PIK3CA-related overgrowth syndrome by administration of a molecular target drug inhibiting this PIK3CA gene has been reported. 14) Sgubin et al 9) reported that KTS may be complicated by spinal AVM due to the influence of angiogenic factor. Angiogenesis due to these gene abnormalities may have contributed to CSdAVF formation in the present patient.…”

Cervical dural arteriovenous malformation and large epidural venous varices in a rare adult presentation of congenital vascular bone syndrome

“…Sgubin et al reported a case of KlippelTrenaunay syndrome with conus medullaris AVM and reviewed 32 additional cases of Klippel-Trenaunay syndrome with spinal AVMs [11]. The authors indicate that, although typically associated with slow flow vascular malformation, Klippel-Trenaunay syndrome may exceptionally be associated with spinal AVMs reflective of the overexpression of angiographic factors.…”

“…At this time, there is no clear consensus regarding which is the optimal treatment. The review by Sgubin et al of the questionable relationship between KlippelTrenaunay syndrome and AVMs outlines reports of endovascular treatment, surgery, combined endovascular and surgical treatment, and conservative treatment with varying degrees of success [11].…”

Genetic syndromes with vascular malformations – update on molecular background and diagnostics

“…Currently, the exact inheritance of KTWS is unknown. It has been suggested that the disease is sporadic [209][210][211], but familial cases and a putative autosomal dominant model of inheritance were also considered [212][213][214]. The researchers have proposed AGGF1, a gene encoding a potent angiogenic factor, as a candidate gene for KTWS [215].…”