Spectrum of imaging findings in Klippel-Trenaunay syndrome affecting lower limbs: a report of three cases

Rituparna Das,Ram C Shukla,Ashish Verma,Ishan Kumar

doi:10.1186/s43055-019-0123-7

Abstract

BackgroundWe present a series of three cases of Klippel-Trenaunay syndrome (KTS) presenting with unilateral lower limb involvement demonstrating a wide range of radiological findings.Case presentationCase 1: A 61-year-old male presented with varicosities in the right lower limb, which was atrophic with a complete absence of deep venous system in the right limb. Case 2: A 23-year-old woman presented with hypertrophied left lower limb with multiple varicosities showing unusual distribution and intraosseous extension into the distal femur, patella, and tibia. Case 3: A 14-year-old male presented with hypertrophy of the right lower limb overlying macular cutaneous lesions. Capillary malformation was seen underneath the cutaneous lesion and multiple subcutaneous and intramuscular venous malformations were seen. Also noted was persistent embryological vein, i.e., lateral marginal vein of Servelle.ConclusionThe three cases in our series demonstrate common and unusual findings of KTS and highlight the role of CT and MR venography in addition to color Doppler sonography to identify the complete extent of the involvement.

Highlights

ConclusionThe three cases in our series demonstrate common and unusual findings of Klippel-Trenaunay syndrome (KTS) and highlight the role of Computed tomography (CT) and MR venography in addition to color Doppler sonography to identify the complete extent of the involvement
We present a series of three cases of Klippel-Trenaunay syndrome (KTS) presenting with unilateral lower limb involvement demonstrating a wide range of radiological findings.Case presentation: Case 1: A 61-year-old male presented with varicosities in the right lower limb, which was atrophic with a complete absence of deep venous system in the right limb
Computed tomography (CT) angiography revealed multiple varicosities along the superficial venous system and abnormal vascular channels in intramuscular and superficial planes showing contrast filling on delayed scans suggestive of venous malformations (Fig. 3)

Summary

Conclusion

Our series revealed variable imaging findings of KTS afflicting lower limbs. A high degree of suspicion is required for diagnosis of KTS and suspicion should be raised in the presence of few salient imaging findings such as history since birth, unilateral limb hypertrophy, and atypical distribution of varices, which may show intramuscular and intraosseous extension. One of our patients presented with atrophy that might be attributed to its late presentation in his 60s. The imaging evaluation of the superficial venous system should be aimed at recognizing the unusual distribution of varicosities of low-flow venous malformations and identification of persistent embryological veins such as lateral marginal vein.

Background

Discussion