Table of Contents  
CASE REPORT
Year : 2021  |  Volume : 8  |  Issue : 2  |  Page : 184-186

Parkes–weber syndrome: Rare but not uncommon – An experience from Oman


1 Department of Surgery, Vascular Surgery Unit, Sultan Qaboos University Hospital, Al-Khoud, Muscat, Oman
2 Department of Radiology, Sultan Qaboos University Hospital, Al-Khoud, Muscat, Oman

Date of Submission01-Jun-2020
Date of Decision06-Jun-2020
Date of Acceptance11-Jun-2020
Date of Web Publication13-Apr-2021

Correspondence Address:
Edwin Stephen
Department of Surgery, Vascular Surgery Unit, Sultan Qaboos University Hospital, Al-Khoud, Muscat
Oman
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijves.ijves_75_20

Rights and Permissions
  Abstract 


We present three cases that were seen at our tertiary care hospital in Oman over the past 18 months. The paucity of knowledge of Parkes–Weber syndrome had these three patients visit several centers nationally and internationally. Through this case series, the reader will be better informed about the presentation, diagnosis, and management of a not so uncommon disorder.

Keywords: Congenital vascular malformation, Klippel–Trenaunay, Parkes–Weber syndrome


How to cite this article:
Al Kindi I, Stephen E, Abdelhady I, Al-Mawaali H, Al Sukaiti R, Al-Wahaibi K. Parkes–weber syndrome: Rare but not uncommon – An experience from Oman. Indian J Vasc Endovasc Surg 2021;8:184-6

How to cite this URL:
Al Kindi I, Stephen E, Abdelhady I, Al-Mawaali H, Al Sukaiti R, Al-Wahaibi K. Parkes–weber syndrome: Rare but not uncommon – An experience from Oman. Indian J Vasc Endovasc Surg [serial online] 2021 [cited 2021 Jun 24];8:184-6. Available from: https://www.indjvascsurg.org/text.asp?2021/8/2/184/313568




  Introduction Top


Parkes–Weber syndrome (PWS) is a congenital vascular disease, resulting in capillary, venous, lymphatic, and arteriovenous malformations (AVMs). It is distinct from Klippel–Trenaunay syndrome (KTS), for which it is commonly misdiagnosed, by the presence of AVMs.[1],[2]

We describe below three cases of PWS seen and managed in our institution. Two of them were treated elsewhere as varicose veins and one as KTS, respectively.


  Case Reports Top


Case 1

A 42-year-old female presented with bilateral calf swelling of 7 years duration and was more profound on the right limb. Before seeing us, she had presented to multiple surgical clinics, where a diagnosis of either varicose veins or lymphedema was made, and she was repeatedly advised compressive stockings, despite her poor response.

On examination, she had bilateral limb swelling, most distinctively in the right calf with C2–C3 venous disease [Figure 1]a. Ultrasound of the lower limb was ordered to rule out deep vein thrombosis, during which small areas of arteriovenous (AV) communication were seen.
Figure 1: (a) Right limb hypertrophy consistent in Parkes–Weber syndrome; (b) magnetic resonance imaging angiogram TWIST lower extremities that demonstrates an arterial blush in the right leg consistent with high-flow arteriovenous malformation (white arrow); (c) conventional right lower extremity angiogram late arterial phase that demonstrates ar terial blush in the right leg consistent with high ar teriovenous malformation (white arrows)

Click here to view


Magnetic resonance imaging (MRI) confirmed a diagnosis of PWS [Figure 1]b. She then underwent a digital subtraction angiography (DSA) [Figure 1]c and two sessions of glue embolization of the micro-AV communications with symptomatic improvement. Customized grade-2 below knee compression stockings are being used postprocedure.

Case 2

An 18-year-old female was referred with a history of right limb swelling since the age of 3. Venous duplex and lymphoscintigraphy were normal. MRI was done to rule out possible vascular malformations [Figure 2]a and [Figure 2]b. The images showed micro-AV communications, and a diagnosis of PWS was made. She refused intervention (DSA with embolization) and has been pleased with grade-2 below knee compression stockings.
Figure 2: (a) Magnetic resonance imaging angiogram TWIST lower extremities that demonstrates an arterial blush in the right leg consistent with high-flow arteriovenous malformation (white arrow); (b) delayed venous phase magnetic resonance imaging angiogram TWIST that demonstrates hypervascularity (white arrow head)

Click here to view


Case 3

A 15-year-old boy presented with left leg swelling and an overlying angiomatous lesion in the thigh [Figure 3]a. He was treated as a case of KTS and underwent radiofrequency ablation, sclerotherapy, and excision of dilated veins, elsewhere. During surgery, the patient had significant intraoperative bleeding that required resuscitation. He showed no symptomatic improvement. Our MRI and DSA thereafter [Figure 3]b, however, showed the presence of micro-AV fistulas consistent with PWS. He underwent two sessions of glue embolization of the fistulas, with reduction in edema and discomfort.
Figure 3: (a) Left limb hypertrophy with port-wine stain (nevus flammeus) caused by capillary malformation; (b) A conventional angiogram of the left lower limb showing a high-flow arteriovenous malformation, the hallmark of Parkes–Weber syndrome

Click here to view



  Discussion Top


PWS is a rare congenital vascular disease characterized by AV communications.[2] It has an overall low prevalence, the exact number of which is unknown.[3]

It is believed to be caused by de novo deleterious mutations in RASA1, although the exact pathophysiology remains unclear.[4] Genetic testing was not done in our case as there was no family history of vascular malformations in our cases, despite Oman having a high incidence of consanguineous marriages.[5]

Clinical manifestations include limb hypertrophy, pain, heart failure in the presence of high-flow AV shunting, recurrent ulcers, and port-wine stain.[1],[6] The young boy had a large nevus on the lateral aspect of his thigh with limb hypertrophy and was hence treated as KTS. He did not, however, have a lateral marginal vein, which is seen commonly in KTS.[7] The females complained mainly of edema and discomfort in the legs.

The diagnosis of PWS is based on good clinical examination, presence of a warm leg, as well as a bruit and/or thrill,[6] coupled with imaging. Duplex can be used as a quick and noninvasive method to detect AV shunting.[8] In addition, computed tomographic angiography, MRI, or DSA can be added, with the latter being a diagnostic and therapeutic modality.[9]

Management in patients with low-flow AVMs can be with grade-2 stockings. As these patients have limb hypertrophy, height correction footwear to prevent spinal column deformities should be used.[6] Alternative therapy includes embolization and, in selected cases, surgical resection of such fistulas.[10]


  Conclusion Top


PWS is a rare disorder. It should be suspected in patients with dilated veins, edema, limb hypertrophy, a warm leg with a bruit, and absence of lateral marginal vein.

Increased awareness among healthcare professionals about PWS could increase the number of cases diagnosed, leading to a better understanding of its pathology and improve management options.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Acknowledgment

We thank two of our patients for giving us permission to publish photographs of their limbs.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Banzic I, Brankovic M, Maksimović Ž, Davidović L, Marković M, Rančć Z. Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review. Phlebology 2017;32:371-83.  Back to cited text no. 1
    
2.
International Society for the Study of Vascular Anomalies. ISSVA Classification for Vascular Anomalies 2014. 20th ISSVA Workshop; 2014. Available from: http://www.issva.org/classification [Last accessed on 2020 Apr 06].  Back to cited text no. 2
    
3.
Redondo P, Aguado L, Martínez-Cuesta A. Diagnosis and management of extensive vascular malformations of the lower limb: Part I. Clinical diagnosis. J Am Acad Dermatol 2011;65:893-906.  Back to cited text no. 3
    
4.
Hershkovitz D, Bergman R, Sprecher E. A novel mutation in RASA1 causes capillary malformation and limb enlargement. Arch Dermatol Res 2008;300:385-8.  Back to cited text no. 4
    
5.
Islam MM. The practice of consanguineous marriage in Oman: Prevalence, trends and determinants. J Biosoc Sci 2012;44:571-94.  Back to cited text no. 5
    
6.
Premkumar P, Stephen E, John J, Kota A, Samuel V, Selvaraj D, et al. Management of Klippel-Trenaunay syndrome from a single center in India: Experience shared. Indian J Vasc Endovasc Surg 2018;5:149.  Back to cited text no. 6
    
7.
Stephen E, Kota A, Agarwal S, Selvaraj D, Premkumar P, Ponraj S, et al. Lateral marginal vein: Have we understood its significance? Indian J Vasc Endovasc Surg 2017;4:43.  Back to cited text no. 7
    
8.
Samadi K, Salazar GM. Role of imaging in the diagnosis of vascular malformations vascular malformations. Cardiovasc Diagn Ther 2019;9 Suppl 1:S143-51.  Back to cited text no. 8
    
9.
Madani H, Farrant J, Chhaya N, Anwar I, Marmery H, Platts A, et al. Peripheral limb vascular malformations: An update of appropriate imaging and treatment options of a challenging condition. Br J Radiol 2015;88:20140406.  Back to cited text no. 9
    
10.
Redondo P, Aguado L, Martínez-Cuesta A. Diagnosis and management of extensive vascular malformations of the lower limb: Part II. Systemic repercussions [corrected], diagnosis, and treatment. J Am Acad Dermatol 2011;65:909-23.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

Top
 
 
  Search
 
Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

 
  In this article
   Abstract
  Introduction
  Case Reports
  Discussion
  Conclusion
   References
   Article Figures

 Article Access Statistics
    Viewed168    
    Printed2    
    Emailed0    
    PDF Downloaded22    
    Comments [Add]    

Recommend this journal


[TAG2]
[TAG3]
[TAG4]