The patient came with complaint of swelling and pigmentation of left lower limb.
On local examination, varicose veins were found on the left lower limb on the lateral side.
Brodie Trendelenburg showed saphenofemoral junction competence and Pratts test showed competent deep venous system.
CT-angiography and venography of both lower limbs was done with continous 1 mm axial sections. CT-scan from D10 vertebra up to ankle joint immediately after contrast injection. Special reformation CT-angiography of abdominal aorta, aortic bifurcation, iliac, femoral and popliteal artery was done.
Multiple venous collateral channels were noted in the left lower limb, i.e. left thigh, left leg and foot. They were arising from the left common femoral vein with an average diameter of around 10 mm, running in lateral aspect of the left lower limb in subcutaneous plane and showing communication with multiple collaterals in the left lower limb.
There was thickened subcutaneous tissue with muscle hypertrophy involving the left lower limb.
Left common illiac veins, left external illiac veins, left common femoral veins, left popliteal veins, left anterior and posterior tibial veins appeared normal with good contrast opacification.
A. Background: Klippel-Trenaunay syndrome is a congenital vascular anomaly with cutaneous haemangiomas , limb hypertrophy (both soft tissue and bony components) and varicose veins as its pathognomic findings. Neither its genetic predisposition nor its exact incidence is known. There are various postulates which explain its pathogenesis. As per Servelle theory, varicosities and tissue hypertrophy is due to venous obstruction. Angiopoetin-2 antagonism [4] which regulates vascular remodelling has also been implicated. At molecular level, VG5Q expression which regulates angiogenesis may also be involved in the pathogenesis [2].
B. Clinical perspective: The classic triad includes port wine stain (nevus flammeus), bone and soft tissue overgrowth and varicosities. One must also keep in mind complications such as deep vein thrombosis which presents as painful swollen limbs and also pulmonary thromboembolism which presents as breathlessness.
C. Imaging perspective:
The goal of imaging is to look for any arteriovenous shunts and to assess severity and extent of malformations.
Colour duplex scan of lower limbs is done to evaluate the venous system and rule out any complications (thrombosis, shunts, insufficiency). Bone overgrowth, as indicated by bone length, is measured using plain X-rays and CT scannograms. Abdominal ultrasound and CT are done to look for visceral involvement and evaluate venous collaterals which is helpful in surgery planning.
Angiography reveals lower leg superficial varicosities with its pathognomic "marginal vein of Servelle" noted on the lateral aspect of thigh and calf.
However, the final diagnosis is still purely clinical, done based on its pathognomic findings.
D. Outcome:
Management of Klippel-Trenaunay syndrome is largely conservative. Surgery is indicated for cases which have complications such as DVT and cellulitis [3]. Compression garments are helpful for managing lymphoedema and venous insufficiency.
E. Conclusion:
The manifestations of KTS are highly variable [1]. Its close differential is Parkes-Weber syndrome which has significant arteriovenous shunting. Imaging is not helpful for diagnosing but instead for planning management and detecting complications. Management is mostly non-surgical.
Klippel-Trenaunay syndrome without any complications
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According to the provided images (lower extremity angiography and CT, etc.), the following main features can be observed:
1. A thick, varicose superficial vein shadow is visible on the lateral side of the left lower limb, with a tortuous shape resembling a “marginal vein (Servelle vein).”
2. The soft tissue of the left lower limb is significantly thicker than that of the contralateral side, and there is skin pigmentation in some areas.
3. Regarding bony structures: mild thickening or deformity can be observed in the left lower limb compared to the opposite side, suggesting combined hyperplasia or hypertrophy of bone and soft tissues.
4. No obvious large-area, high-flow arteriovenous fistula is seen, and there is no clear sign of obstruction in the main trunk of the deep veins.
These imaging findings are consistent with the clinical presentation of left calf swelling, skin pigmentation changes, and superficial varicose veins.
Based on imaging and clinical manifestations, the following diagnoses or differentials are primarily considered:
1. Klippel-Trenaunay Syndrome (KTS): Characterized by a triad of cutaneous hemangioma/port-wine stain, hypertrophy of soft tissues and bones, and superficial varicose veins, typically affecting a single limb. Imaging may show a large, tortuous marginal vein, aligning with the clinical presentation.
2. Parkes-Weber Syndrome: Similar to KTS but commonly associated with significant high-flow arteriovenous fistulas. If imaging reveals a marked arteriovenous shunt, there should be a high suspicion for this syndrome.
3. Other Congenital Vascular Malformations: Such as venous malformations or varicosities. However, these usually cannot fully account for both soft tissue and bone hypertrophy. A more comprehensive clinical and imaging evaluation is required.
Taking into account the patient’s age (3 years), clinical manifestations (swelling of the left lower limb, skin pigmentation, superficial varicose veins), examination results (relatively intact saphenofemoral junction and deep venous system function), and imaging findings (typical tortuous “marginal vein,” thickened soft tissue and bone), the most likely diagnosis is:
Klippel-Trenaunay Syndrome (KTS).
Currently, there is no clear evidence of a high-flow arteriovenous fistula, thus Parkes-Weber Syndrome is considered less likely.
Since Klippel-Trenaunay Syndrome is mainly managed conservatively, considering this child’s specific situation, the key points for treatment and rehabilitation are as follows:
1. Conservative Management
- Wear compression stockings (compression bandages) with an appropriate pressure grade: This helps alleviate superficial varicose veins and potentially associated lymphedema.
- Pay attention to skin care: Prevent skin breakdown and secondary infection (e.g., gentle cleaning, keeping the skin dry, avoiding abrasions).
- Regular follow-up: Monitor the circumference of the lower limb, observe changes in skin lesions, and evaluate the patency of deep veins.
2. Surgical Intervention
- If there are recurrent infections, venous thrombosis, bleeding, or severe functional impairment, consider vascular/venous surgery.
- The choice and timing of surgery should be guided by angiography findings and clinical assessment of deep veins, carefully weighing surgical risks against potential benefits.
3. Rehabilitation Exercises and Exercise Prescription
For a 3-year-old child, an exercise program should be individualized, focusing on safety and developmental needs:
- Frequency: 3 to 5 times per week, integrated with daily activities and play, avoiding high-impact exercises.
- Intensity: Mainly light to moderate intensity, such as simple play under parental supervision, squatting games, and assisted walking practice.
- Duration: Each session can last 10 to 20 minutes, depending on the child’s attention span and tolerance.
- Type: Encourage swimming or water-based activities (if conditions permit), as well as low-impact indoor exercises such as mat gymnastics.
- Progression: As the child’s lower limb strength and endurance improve, gradually increase the duration and variety of activities, such as gentle ball kicking or riding a toddler bicycle. Monitor pulse and changes in limb swelling.
Throughout rehabilitation, strenuous or high-impact activities should be avoided to prevent joint and soft tissue injury. Promptly consult a medical professional if any discomfort, pain, or worsening edema occurs.
This report is for reference only and does not replace an in-person diagnosis or professional medical advice. If you have any questions or if your condition changes, please consult an appropriate specialist or medical institution promptly.
Klippel-Trenaunay syndrome without any complications
