Presentation
Asymmetry and pain of the lower limbs (with an enlarged and swollen right limb). Surgical history: amputation of the right foot due to necrosis.
Patient Data
At the iliac bifurcation, the left common iliac artery and its branches are of preserved calibers, where the common iliac measures 8.3 mm.
The left femoral, popliteal, tibiofibular trunk, peroneal, tibialis anterior, and tibialis posterior arteries retain their calibers and are patent following contrast administration.
The right common iliac artery and its branches are enlarged, measuring 17 mm and 11 mm, respectively.
The right iliac veins are also enlarged, without signs of thrombosis.
Multiple serpiginous vessels are seen in the right lower quadrant and extend throughout the entire voluminous right lower limb, compatible with arteriovenous malformation.
There is an increase in the volume of the affected right lower limb, with significant involvement of the hip. There is fatty replacement of the muscle in the leg.
Significant dilation of the superficial venous system.
Also, spontaneously hyperdense dispersed linear structures are identified, likely as a result of prior embolization.
On the bone window, involvement of the right iliac bone is observed, as in an important alteration of the density and morphology of the femoral head on this side and an alteration of the bone density of the femur, tibia, and fibula. The right femur is shorter compared to the left.
Retro-aortic left renal vein as an anatomical variant.
Case Discussion
Parkes-Weber syndrome is a little-known and underdiagnosed entity. It is characterized by the presence of arteriovenous and lymphatic malformations (fistulas).
Clinically: depending on the location of the fistula, in our case, he came for pain in the lower limb, asymmetry of his extremities, and skin spots (port-wine color).
Etiology: it is an autosomal dominant disease caused by defects in the RASA 1 gene.
Pathophysiology: arteriovenous fistulas (a distinctive characteristic of arteriovenous malformations) can occur in various sites or organs. They are "high-resistance arteriovenous fistulas," that is, with the passage of arterial blood (high pressure) to the venous system (low resistance), which in the long term will lead to cardiac overload (right system) and distal ischemic changes (due to inadequate perfusion, blood flow will follow the path of least resistance).
Diagnosis: a high clinical suspicion, complementary diagnostic methods, and genetic alterations (RASA1).
Laboratory: can provide information on kidney function (due to ischemic changes).
Imaging: the definitive diagnosis can be made with CT angiography or MRI angiography, where the passage of flow from one system to the other (arterial-venous) will be observed.
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