Parkes Weber syndrome

Last revised by Bouhouche Abdeldjalil on 15 Feb 2024

Citation, DOI, disclosures and article data

Citation:

Schubert R, Abdeldjalil B, Sharma R, et al. Parkes Weber syndrome. Reference article, Radiopaedia.org (Accessed on 24 Apr 2024) https://doi.org/10.53347/rID-18645

DOI:

https://doi.org/10.53347/rID-18645

Permalink:

https://radiopaedia.org/articles/18645

rID:

18645

Article created:

16 Jul 2012, Roberto Schubert

Disclosures:

At the time the article was created Roberto Schubert had no recorded disclosures.

View Roberto Schubert's current disclosures

Last revised:

15 Feb 2024, Bouhouche Abdeldjalil

Disclosures:

At the time the article was last revised Bouhouche Abdeldjalil had no financial relationships to ineligible companies to disclose.

View Bouhouche Abdeldjalil's current disclosures

Revisions:

11 times, by 9 contributors - see full revision history and disclosures

Systems:

Vascular, Paediatrics

Sections:

Syndromes

Synonyms:

FP Weber syndrome
F P Weber syndrome

Parkes Weber syndrome or less commonly F P Weber syndrome is a traditional eponymous denomination of a certain type of angiodysplasia, that would nowadays rather be called a mixed hemolymphatic congenital vascular malformation (CVM) with arteriovenous (AV) shunting, based on the Hamburg classification of CVMs.

In the older literature, Parkes Weber syndrome was often linked or even confused with other syndromic malformations of the vascular and skeletal system such as the Klippel-Trénaunay syndrome or the Servelle-Martorell syndrome. It has become clear in the meantime that many cases of congenital peripheral AV shunts do not include all features of the classical descriptions so pure Parkes Weber syndrome cases are hard to find. However, the syndrome is still seen as a distinct self-contained entity.

Epidemiology

Parkes Weber syndrome is very rare. Parkes Weber syndrome occurs in children and young adults with no gender predilection ⁸.

Clinical presentation

Patients may present with venous ulceration or limb ischemia ⁸. A port-wine stain is usually present ⁸.

Pathology

Parkes Weber syndrome is a congenital vascular malformation characterized by predominant arteriovenous shunting, combined with cutaneous capillary, lymphatic and venous malformations in an overgrown limb ⁸. The lower limbs are much more commonly affected than the upper limbs ⁸.

In "classical" F P Weber syndrome, skeletal abnormalities, such as gigantism or hemihypertrophy are present. The vascular components tend to increase in size over time.

Genetics

In some cases, mutation to the RASA1 gene, which encodes p120-Ras GTPase-activating protein, has been demonstrated ⁸. A positive family history for Parkes Weber syndrome or other capilallary malformations is sometimes present ⁸.

Associations

spinal AV malformation ⁸

Radiographic features

Diagnostic imaging in CVMs is based on a multimodality approach. Ultrasound can detect arteriovenous shunts and determine low-flow vs high-flow lesions ⁸.

MRI and MRA have proved helpful in the detection and characterization of arteriovenous dysplasias, especially when time-resolved imaging is used.

Arteriography (DSA) is the considered the gold standard, usually reserved for patients being considered for surgical or endovascular interventions ⁸.

Selective balloon occlusion arteriography is the traditional gold standard in detecting extensive AV fistulae along the whole axis of an extremity.

Treatment and prognosis

Repeated endovascular embolization or skeletonisation surgery is often required. Limb amputation or high-output cardiac failure is common ⁸.

History and etymology

Frederick Parkes Weber (1863-1962) was a British physician ⁷. In his original 1907 article ¹, long before the advent of vascular imaging, Parkes Weber described a proportionate hemihypertrophic limb with vascular malformations that, from today's state of knowledge, fulfilled the criteria of arteriovenous shunts.