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Neuroradiology Case of the Week
Case 433
August 2009
J. Scott Thomson, MD
Clinical
Presentation: Patient is a newborn male, prenatally diagnosed with Klippel-Trenaunay syndrome, with multiple soft tissue masses involving the neck, chest, abdomen, sacrum, and extremities.
Imaging Findings: Many prominent venous or lymphatic malformations involving the deep and superficial soft tissues of the neck and axillae bilaterally, as well as the chest, abdomen, pelvis, perineum, and extremities.
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Figure 1: Frontal radiograph shows soft tissue masses in the right neck and left shoulder/axilla.
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Figure 2:
Axial proton density fat suppressed MRI shows multiple, bilateral, very prominent cysts predominantly in the superficial soft tissues of the lower neck, including multiple heme levels.
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Figure 3: Axial T2 fat suppressed MRI shows multiple bilateral cysts in both the superficial and deep soft tissues of the upper neck (a portion of the inferior left cerebellum is seen). |
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Figure 4: Coronal SSFSE fat suppressed MRI shows bilateral cysts involving the lower neck, shoulders, and axillae. There are also cysts in the chest, abdomen, pelvis, perineum, and right leg. |
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| Figure 5: Coronal T2 image shows large cysts in the lower neck bilaterally, as well as the soft tissues about the right elbow (seen just to the right of the head). |
Diagnosis: Klippel Trenaunay syndrome
Discussion: Klippel Trenaunay syndrome is characterized by port-wine stain, varicose veins and venous malformations, and soft tissue/bone hypertrophy in an extremity. There may also be small arteriovenous malformations present, in which case it is commonly know as Klippel Trenaunay Weber syndrome (a.k.a. Parkes Weber syndrome). Most cases are sporadic, though there have been some cases with autosomal dominant inheritance. The pathophysiologic cause is a subject of speculation. There is no racial or sexual predominance, and presentation is at birth or during infancy or childhood.
Usually only a single extremity is affected, most commonly a leg. Unlike many conditions which a triad of findings, most patients with Klippel Trenaunay syndrome have the entire triad noted above. A port wine stain is almost always present. Port wine stains are capillary hemangiomas, which have a well-defined border that respects the midline. They may occur anywhere, commonly in the hypertrophied extremity, but are extremely rare in the face. Cavernous hemangiomas or lymphangiomas may also occur. Hemangiomas may remain superficial, may involve the deeper soft tissues, or even involve organs. Prognosis is poorer with organ involvement. Varicose veins are large lateral, superficial veins which may be seen at birth. They occur in the lower limbs, may remain stable in size or expand, and may become painful. Various venous malformations are seen. Venous, lymphatic, and AV malformations do not affect the face or brain. Limb hypertrophy occurs due to an increase in soft tissue and bone. This may be recognized at birth, but progresses and becomes more noticeable with growth of the child. Many other associated findings and conditions have been reported, including embolism (typically pulmonary). There is an association with Sturge-Weber syndrome.
Ultrasound is useful for detection of dilated veins or lymphangiomas, and may be used for prenatal diagnosis as in the case above. Venography may detect venous malformations. Doppler ultrasound and angiographic studies may be used to detect AVMs. MRI can identify the dilated vasculature, hypertrophied bone and soft tissue, and organ involvement. Plain radiographs may be used to follow the bone hypertrophy.
Conservative treatment includes compression garments and devices, to control venous stasis, lymphedema, and recurrent bleeding. Pain management may be an important component of care. Antibiotics may be required for cellulitis or thrombophlebitis. Anticoagulation may be needed for thrombotic events. Heel inserts are used for mild limb discrepancy, while orthopedic surgery may be required for more severe limb discrepancy. Laser treatment of port wine stains help with cosmetic appearance as well as healing of ulcers. Surgical removal of superficial varicosities and venous malformations may be attempted in selected cases. Endovascular laser therapy is a newer technique for treatment of varicosities.
References:
- Elsayes KM, Menias CO, Dillman JR, Platt JF, Willatt JM, Heiken JP. Vascular malformation and hemangiomatosis syndromes: spectrum of imaging manifestations. AJR Am J Roentgenol. 2008 May;190(5):1291-9. PMID: 18430846 [PubMed]
- Janniger CK. Klippel-Trenaunay-Weber Syndrome. eMedicine. June 2, 2009. http://emedicine.medscape.com/article/1084257-overview
- Oduber CE, van der Horst CM, Hennekam RC. Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology. Ann Plast Surg. 2008 Feb;60(2):217-23. PMID: 18216519 [PubMed]
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