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| CASE REPORT |
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| Year : 2021 | Volume
: 8
| Issue : 2 | Page : 184-186 |
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Parkes–weber syndrome: Rare but not uncommon – An experience from Oman
Ibrahim Al Kindi1, Edwin Stephen1, Ibrahim Abdelhady1, Hanan Al-Mawaali1, Rashid Al Sukaiti2, Khalifa Al-Wahaibi1
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 Submission | 01-Jun-2020 |
| Date of Decision | 06-Jun-2020 |
| Date of Acceptance | 11-Jun-2020 |
| Date of Web Publication | 13-Apr-2021 |
Correspondence Address:
Edwin Stephen
Department of Surgery, Vascular Surgery Unit, Sultan Qaboos University Hospital, Al-Khoud, Muscat
Oman
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ijves.ijves_75_20
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 2023 Jan 29];8:184-6. Available from: https://www.indjvascsurg.org/text.asp?2021/8/2/184/313568 |
| Introduction | |  |
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 | | |
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)
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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
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| Discussion | | |
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 | | |
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 | | |
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| 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]. |
| 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. |
| 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. |
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| 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. |
| 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. |
| 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. |
| 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. |
[Figure 1], [Figure 2], [Figure 3]
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