A 16-year-old male presented with complaints of nodular swelling in the left thigh and leg with left limb hypertrophy and port wine stain
- A 16-year-old male presented with complaints of nodular swelling in the left thigh and leg with left limb hypertrophy and port wine stain
1. Axial MRI images
Shows multiple dilated collaterals in the subcutaneous plane of the thigh along with a prominent and dilated vessel noted in the lateral aspect of the thigh.
2. Angiography appears normal. No arterial feeders were noted.
3. Venography shows a dilated venous channel running in the lateral aspect of the thigh ( lateral marginal vein of servile) and draining through the accessory medial vein into the profunda femoris ( Type IIa)
Normal deep venous system noted
A small dilated varix is noted.
Persistent lateral marginal vein with venous malformation , limb hypertrophy and port wine stain
Klippel Trénaunay syndrome
DISCUSSION:
- Klippel-Trénaunay syndrome (KTS) is a very rare congenital disorder that is characterized by a triad of venous malformations, cutaneous capillary malformations, and limb overgrowth. It is considered an angio-osteo hypertrophic syndrome
- Klippel-Trénaunay syndrome are sporadic and there is no recognized gender or racial predilection.
CLINICAL PRESENTATION:
Klippel-Trénaunay syndrome classically comprises a triad of:
- cutaneous capillary malformations: port wine nevi
- limb overgrowth: bony or soft tissue hypertrophy of an extremity (localized gigantism)
- varicose veins or venous malformations of unusual distribution
RADIOGRAPHIC FEATURES
- Limb hypertrophy with soft tissue and bony component
- Venous malformations
- Arteriovenous malformation – If present think of parkers weber syndrome
- Absent / hypoplasia of deep venous system
- Typical angiographic findings, which may also be seen on contrast-enhanced CT-scan or MRI, shows The marginal vein of Servellea pathognomonic finding (a subcutaneous vein found in the lateral calf and thigh)
Differential diagnosis
Varicose veins
Parkers weber syndrome
CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal deformities )
PROS Spectrum (phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth syndromes )
Conclusion
Klippel-Trénaunay syndrome (KTS) is a very rare congenital disorder that is characterized by a triad of venous malformations, cutaneous capillary malformations, and limb overgrowth. It is considered an angio-osteo hypertrophic syndrome
The marginal vein of Servelle a pathognomonic finding
Imaging of deep venous system is important for surgical management
Reference :
- Phillips GN, Gordon DH, Martin EC et-al. The Klippel-Trenaunay syndrome: clinical and radiological aspects. Radiology. 1978;128 (2): 429-34. doi:10.1148/128.2.429– Pubmed citation
- Roebuck DJ, Howlett DC, Frazer CK et-al. Pictorial review: the imaging features of lower limb Klippel-Trenaunay syndrome. Clin Radiol. 1994;49 (5): 346-50. – Pubmed citation
- James CA, Allison JW, Waner M. Pediatric case of the day. Klippel-Trénaunay syndrome. Radiographics. 19 (4): 1093-6. Radiographics (full text)– Pubmed citation
- Kanterman RY, Witt PD, Hsieh PS et-al. Klippel-Trenaunay syndrome: imaging findings and percutaneous intervention. AJR Am J Roentgenol. 1996;167 (4): 989-95. AJR Am J Roentgenol (citation)– Pubmed citation
- Meier S. Klippel-Trenaunay syndrome: a case study. Adv Neonatal Care. 2009;9 (3): 120-4. doi:10.1097/ANC.0b013e3181a68b15– Pubmed citation
Dr. DEEPTI H.V.
Consultant Radiologist
Manipal Hospital, Yeshwanthpur, Bengaluru.
Dr. SHARNITHA JOHNSON
Fellow in Radiology
Manipal Hospital, Yeshwanthpur, Bengaluru.
