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Competing Interests: Declaration of conflicting interestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Objective: Currently, the focus on limb lymphedema (LE) is on classification and staging. However, few scholars have conducted staging for Klippel-Trenaunay syndrome complicated LE (KTS-LE). This study aimed to investigate the value of the short time inversion recovery sequence of magnetic resonance imaging (MRI) in the staging of KTS-LE., Methods: Forty-six patients who were diagnosed with KTS-LE were recruited for this retrospective study from July 2011 to November 2022. Referring to the clinical staging standard of lower extremity LE of the International Society of Lymphology in 2020, all patients were divided into three groups: stages I, II, and III. The MRI indicators of the three groups were recorded and statistically compared: LE range (unilateral bilateral, lower limbs, only thighs, only calves and ankles), abnormal parts (skin thickening, abnormal subcutaneous fat signal, abnormal muscle signal, muscle hypertrophy or contraction, abnormal bone signal, hyperostosis), and subcutaneous soft tissue signs (parallel line sign, grid sign, band sign, honeycomb sign, lymph lake sign, crescent sign, and nebula sign)., Results: There was a significant difference in the honeycomb sign among the three periods (P = .028). There was a significant difference between stage II and stage I disease (P < .05). There was a significant difference between stage II and stage III disease (P < .05). The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of the honeycomb sign in diagnosing KTS-LE of stage II were 87.5%, 63.2%, 33.3%, 96.0%, and 67.4%, respectively. In contrast, the other signs were not statistically significant among the three periods., Conclusions: The short time inversion recovery sequence of MRI is of great value in KTS-LE. The honeycomb sign is an important imaging indicator for the diagnosis of stage II disease. It is necessary to evaluate the severity of edema with MRI for KTS-LE, which is very important for therapeutic options., Competing Interests: Disclosures None., (Copyright © 2024. Published by Elsevier Inc.)

Background: The natural history of venous malformation (VM) and Klippel-Trenaunay Syndrome (KTS) has not been quantitatively studied. To obtain benchmarks to guide designing clinical trials to assess safety and efficacy of novel drug candidates, the clinical course of the patients was followed for 6 months. Methods and Results: This is a multicenter prospective observational study evaluating the change rate in lesion volume from baseline with magnetic resonance images, as the primary endpoint. In addition, disease severities, performance status (PS), pain visual analog scale (VAS) score, quality of life (QoL), infections, and coagulation markers were also evaluated. Thirty-four patients (VM = 17, KTS = 17, 1-53 of age; median 15.9 years) with measurable lesion volume were analyzed. There was no statistically significant difference in the lesion volume between baseline and day 180, and the mean change rate (standard deviation) was 1.06 (0.28). There were no baseline characteristics that affected the change in lesion volume over 6 months. However, there were patients who showed more than 20% volume change and it was suggested that the lesion volume was largely impacted by local infection. There were no statistically significant changes in pain VAS score, severity, PS, QoL score, D-dimer, and platelet count over 6 months within all patients analyzed. Conclusion: The results showed the representative natural course of VM and KTS for a 6-month period with objective change of lesion volume and other factors, suggesting that it is scientifically reasonable to conduct a Phase 2 proof-of-concept study without a placebo arm, using the results of this study as the control. Clinical Trial Registration: NCT04285723, NCT04589650.

Objective: Klippel-Trenaunay syndrome (KTS) is a congenital mixed mesenchymal malformation syndrome that includes varicose veins, capillary and venous malformations, lymphatic abnormalities, and hypertrophy of various connective tissue elements. The purpose of the present study was to describe the clinical characteristics and outcomes in a subset of patients with KTS in whom venous interventions, including iliofemoral venous stenting, were performed after failure of conservative therapy., Methods: A single-center retrospective data review of 34 patients with KTS who had undergone interventions for venous disease between January 2000 and December 2020 was performed., Results: Their mean age was 38.4 ± 17.5 years (range, 12-80 years). No gender predilection was found. Of the 34 patients, 61% had had all three features of the classic triad for KTS. Varicose veins were present in all 34 patients (100%), and 30% had had a history of bleeding varicosities. Most patients (79%) had CEAP (Clinical, Etiology, Anatomy, and Pathophysiology) class ≥C4. Of the 34 patients, 30% had a history of deep vein thrombosis and/or pulmonary embolism. Factor VIII elevation was the most common thrombophilia condition (12%). The venous filling index was elevated at baseline (5.9 ± 5.1 mL/s) and did not normalize despite intervention (3.5 ± 2.3 mL/s; P = .04). The superficial venous interventions (n = 35) included endovenous laser therapy; stripping of the great saphenous vein, small saphenous vein, anterior thigh vein, or marginal vein; ultrasound-guided sclerotherapy; and stab avulsion of varicose veins. One coil embolization of a perforator vein was performed. Deep interventions (n = 19) included endovenous stenting (n = 15), popliteal vein release (n = 3), and valvuloplasty (n = 1). The venous clinical severity score had improved from 9.4 ± 4.5 to 6.2 ± 5.6 (P = .04). The visual analog scale for pain score had improved from 5.5 ± 2.7 to 2.5 ± 3.3 (P = .008). Healing of ulceration was noted in 75% of the patients. Significant improvements in the total pain (P = .04) and total psychological (P = .03) domains were noted in the 20-item chronic venous disease quality of life questionnaire., Conclusions: Superficial and deep venous interventions are safe and effective in patients with KTS when conservative therapy has failed. Iliofemoral venous stenting is a newer option that should be considered in the treatment of chronic deep venous obstructive disease in patients with KTS in the appropriate clinical context. An aggressive perioperative deep vein thrombosis prophylaxis protocol should be in place to reduce thromboembolic complications in these patients., (Copyright © 2022 Society for Vascular Surgery. Published by Elsevier Inc. All rights reserved.)

Vascular anomalies encompass a spectrum of tumors and malformations that can cause significant morbidity and mortality in children and adults. Use of the International Society for the Study of Vascular Anomalies (ISSVA) classification system is strongly recommended for consistency. Vascular anomalies can occur in isolation or in association with clinical syndromes that involve complex multifocal lesions affecting different organ systems. Thus, it is critical to be familiar with the differences and similarities among vascular anomalies to guide selection of the appropriate imaging studies and possible interventions. Syndromes associated with simple vascular malformations include hereditary hemorrhagic telangiectasia, blue rubber bleb nevus syndrome, Gorham-Stout disease, and primary lymphedema. Syndromes categorized as vascular malformations associated with other anomalies include Klippel-Trenaunay-Weber syndrome, Parkes Weber syndrome, Servelle-Martorell syndrome, Maffucci syndrome, macrocephaly-capillary malformation, CLOVES ( c ongenital l ipomatous o vergrowth, v ascular malformations, e pidermal nevi, and s coliosis, skeletal, and spinal anomalies ) syndrome, Proteus syndrome, Bannayan-Riley-Ruvalcaba syndrome, and CLAPO ( c apillary malformations of the lower lip, l ymphatic malformations of the face and neck, a symmetry of the face and limbs, and p artial or generalized o vergrowth) syndrome. With PHACES ( p osterior fossa malformations, h emangiomas, a rterial anomalies, c ardiac defects and/or coarctation of the aorta, e ye abnormalities, and s ternal clefting or supraumbilical raphe) syndrome, infantile hemangiomas associated with other lesions occur. Diagnostic and interventional radiologists have important roles in diagnosing these conditions and administering image-guided therapies-embolization and sclerotherapy, and different ablation procedures in particular. The key imaging features of vascular anomaly syndromes based on the 2018 ISSVA classification system and the role of interventional radiology in the management of these syndromes are reviewed. Online supplemental material is available for this article. © RSNA, 2022.

Background: Klippel-Trénaunay syndrome is a rare congenital capillary-lymphatic-venous condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony and/or soft-tissue hypertrophy. It has a very low incidence of about 1:100,000., Case Presentation: We report the case of 21-day-old neonate Black African female (born in Uganda) with Klippel-Trénaunay syndrome who presented with macrodactyly and ectrodactyly on the left foot, as well as numerous port wine stains on the left thoracoabdominal region and anteroposterior left lower limb. Color Doppler ultrasound examination of the left lower limb and abdomen revealed varicose veins without signs of arteriovenous fistula., Conclusion: The report presents the case of a neonate with a rare congenital vascular disorder type Klippel-Trénaunay syndrome., (© 2021. The Author(s).)

Objectives: To investigate the prevalence of arm-involvement in Klippel-Trénaunay syndrome (KTS)-patients and to describe the venous anatomy and/or venous aberrations present in the arm, and if possible, their relationship to complaints (pain, congestion and thromboembolic events)., Methods: A retrospective cohort-study was performed with data from medical records of a large KTS-cohort (n = 173) from a tertiary referral center. Within this cohort, a descriptive study (n = 12) was performed on the KTS-patients with arm involvement and who had been examined with Colour Duplex Ultrasonography (CDU)., Results: Our KTS-cohort (n = 173) comprised 43 patients (24.9%) with arm-involvement; in nineteen patients (11.0%) the arm was the only affected limb. Of those KTS patients investigated with CDU, 9 out of 12 (75%) had an aberrant venous anatomy., Conclusion: Future research needs to clarity whether the complaints of KTS-patients in general are caused by an aberrant venous anatomy, coagulation alterations and/or other factors. Herein, the KTS-arms may play an important role.

We present a rare case of an 8-year-old male with Klippel-Trenaunay syndrome (KTS) and a Chiari I malformation (CIM). Magnetic resonance imaging (MRI) to investigate facial asymmetry and speech delay at age two revealed CIM with cerebellar tonsils 1.3 cm below the foramen magnum without syringomyelia. The patient underwent a craniectomy and posterior fossa decompression with C1 laminectomy. While gene sequencing determined the patient was negative for the PIK3CA gene mutation, the patient's clinical history strongly suggests KTS. He has hemihypertrophy, leg length discrepancy, hemangiomas and pigmentary mosaicism along the upper and lower extremities, heart murmur, chronic low heart rate, recurrent hip pain, and mild scoliosis. Neurodevelopmental concerns include difficulty reading, attention deficit hyperactivity disorder (ADHD), anxiety, and difficulty running and going downstairs. His most recent MRI shows good decompression at the cervicomedullary junction, global cerebrospinal fluid (CSF) flow, and less peg-like cerebellar tonsils. Also noted were two intravertebral hemangiomas at T5 and T6. While the patient's speech has improved, there is still difficulty with the expressive language. He still has mild delays, runs slowly, and does not alternate feet when climbing stairs. The patient is being followed by multiple specialists including neurology, hematology-oncology, genetics, orthopedic surgery, and developmental pediatrics.

Background and Purpose: While numerous reports have demonstrated intracranial CNS anomalies associated with Klippel-Trenaunay syndrome, to our knowledge, there has not been a large consecutive study examining these anomalies. The aim of this study was to determine the spectrum of intracranial neurovascular manifestations in patients with a clinical diagnosis of Klippel-Tranaunay syndrome., Methods: Consecutive patients with a clinical diagnosis of Klippel-Trenaunay syndrome, as defined by the International Society for the Study of Vascular Anomalies, who underwent brain contrast-enhanced CT/computed tomography angiography, MRI/magnetic resonance angiography, or digital subtraction angiography at our institution from 2000 to 2019 were included. Studies were evaluated by a neuroradiologist and a senior radiology resident for the presence of cavernous malformations, developmental venous anomalies, venous sinus developmental abnormalities, craniofacial venous malformations, intraosseous venous malformations, and intracranial/extracranial venous abnormalities., Results: Fifty patients with definite KTS were included. Thirty-four neurovascular anomalies were found in 17 patients (34.0%), including 8 with multiple anomalies. Nine patients had developmental venous anomalies (18.0%), 7 had craniofacial venous malformations (14.0), 6 had venous sinus developmental abnormalities (12.0%), 7 had intraosseous venous malformations (14.0%), and 2 had cavernous malformations (4.0%), and 9 patients had both intracranial venous abnormalities and craniofacial or calvarial findings (13.0%)., Conclusion: Our findings demonstrate that Klippel-Trenaunay syndrome can involve a wide spectrum of intracranial neurovascular anomalies predominantly involving the venous system.

Background: A number of studies have demonstrated spinal anomalies associated with Klippel-Trenaunay syndrome (KTS). To date, there are no large consecutive series examining the prevalence and subtype distribution of spinal neurovascular malformations in patients with KTS., Objective: To report the spectrum and incidence of spinal neurovascular manifestations in the KTS population., Methods: This was a cross-sectional study. Consecutive patients with definite KTS as defined by International Society for the Study of Vascular Anomalies criteria who underwent spinal neuroimaging at our institution were included. All studies were evaluated by a staff neuroradiologist and a senior radiology resident for the presence of developmental venous anomalies, cavernous malformations (CMs), and arteriovenous shunts (AVS)., Results: A total of 116 patients with definite KTS who underwent spinal neuroimaging were included. A total of 23 neurovascular anomalies were found in 19 patients (16.4%), including 4 patients with multiple anomalies. These included 5 patients with spinal cord CMs (4.3%), 14 patients with a paraspinal or epidural venous malformation (12.1%), and 4 patients with an AVS (3.4%). Of the AVS, 3 were epidural arteriovenous fistulas, 1 of which likely formed de novo in an epidural venous malformation. One was a conus medullaris arteriovenous malformation., Conclusion: Our study cohort of 116 KTS patients demonstrated a wide spectrum of spinal neurovascular anomalies with a relatively high prevalence. Potential phenotypic descriptions of KTS should include the possibility for spinal neurovascular anomalies., (Copyright © 2020 by the Congress of Neurological Surgeons.)

Purpose: Klippel-Trenaunay syndrome (KTS) is a rare disease that was characterized by vascular malformation. Lymphatic malformation was also commonly associated with KTS. However, the application of lymphoscintigraphy in the management of patients with KTS was rarely described. The purpose of this study is to assess whether the findings of lymphoscintigraphy can aid the management of the patients with KTS., Methods: A total of 28 patients with known KTS who underwent Tc-dextran lymphoscintigraphy with lower extremity tracer injection were included in this retrospective analysis. The images from lymphoscintigraphy were reviewed for any abnormalities in the body with the attention on the region of left subclavian-jugular venous angle., Results: In addition to abnormal activity in the other regions, abnormal activity in the left subclavian-jugular venous angle was visualized in over half of the patients (53.6%, 15/28). Based on the findings of the lymphoscintigraphy, 7 patients with left subclavian-jugular venous angle activity underwent thoracic duct decompression. In 4 patients with postsurgery follow-up, 3 achieved significant, measurable symptomatic relief., Conclusions: Lymphoscintigraphy can be used to assess potential candidates for thoracic duct decompression to alleviate the symptoms in patients with KTS.

Background: Klippel-Trenaunay Syndrome (KTS) is a genetic vascular malformation disorder which induces a variety of phenotypic expression in patients which differ in terms of severity/location. While previous studies have documented genitourinary (GU) complications in adult KTS patients, documentation of the scope and incidence of GU involvement in the pediatric population with imaging findings is currently limited. This study represents the largest KTS genitourinary review to date., Objective: To assess the incidence, scope, clinical findings and imaging characteristics of GU pathology in pediatric KTS patients., Materials/methods: Using a retrospective data analysis design, the charts and imaging studies of pediatric KTS patients were reviewed. All patients received care at a specialized vascular clinic within a multicenter tertiary care system. Variables studied included age, age at KTS diagnosis, gender, urologic involvement, and age of urologic complication., Results: 58 patients were identified. 33 were male and 25 were female. 10 patients had GU findings. Three of these patients had multifocal GU involvement (greater than 1 finding). Urologic manifestations were diverse with 9 distinct diagnoses involving 6 unique organs. Renal, vesical and scrotal pathologies were most common. Hematuria was the most common presenting symptom in 30% (3/10). Previously unreported findings (labial swelling, renal lymphatic cysts) were identified. The average age of KTS diagnosis was 4.9 years. The average age of documented GU complication and involvement was 7.6 years., Conclusion: Significant GU complications due to KTS can occur in the pediatric population. Early clinical and imaging characterization of these conditions is important for management, family education and early intervention strategies., Competing Interests: Declaration of competing interest None., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Background: Klippel-Trénaunay syndrome (KTS) is a complex congenital vascular disorder, typically accompanied by port-wine stains, varicose veins, and limb hypertrophy. This paper reports a rare and unusual clinical condition of periosteal reaction in a pediatric case of KTS. Although periosteal new bone formation is not rare in children, as is KTS, their dual occurrence or the presentation of the former due to KTS has not been previously documented. Our objective in this study is to highlight the potential association between periosteal new bone formation and KTS, as well as to help physicians consider this association when bone neoplasm has been ruled out., Case Presentation: A 7-year old girl, initially presented with a persistent mild swelling in her left shank, with no abnormalities in the X-ray of the tibiofibular. However, after a few consults and examinations, 7 weeks later, a 17 cm-long periosteal new bone formation along the left tibia and diffused dilated vessels in the left shank were revealed by the radiological examination. Not knowing the true nature of the fast-growing lesion in a typical case of KTS was worrying. Therefore, a core needle biopsy was performed. The test demonstrated a possible parosteal hemangioma. Following further investigation through an excisional biopsy, and a pathological analysis, hyperplasia of the bone tissues with no tumor cells was revealed. Thereafter, an elastic stocking treatment was prescribed. During the first two-year follow-up, recurrence of the mass or sign of progression of KTS was not observed., Conclusions: Periosteal new bone formation is a potential manifestation of KTS. Based on the conclusive pathological results of the excisional biopsy, invasive examinations and surgeries could be avoided in future KTS-subperiosteal lesion manifestations.

Klippel-Trenaunay syndrome (KTS) is a congenital disorder associated with capillary, venous, lymphatic vascular malformations, and unilateral hypertrophy of the soft tissue and bone. We report a case of a 5-year-old girl with KTS who was followed up until age 17. The asymmetry of her maxillary dentition became remarkable with growth, although no significant left-right difference in either the maxilla or mandible was recognized. Acceptable occlusion was achieved without fixed orthodontic appliances; however, it was necessary to develop treatment plans in accordance with the general symptoms of the disease.

The lateral marginal vein is an anomalous clinical entity found in association with Klippel-Trénaunay and other PIK3CA-related overgrowth syndromes. Although it is reported to affect <20% of patients with Klippel-Trénaunay syndrome, this venous anomaly has been associated with significant morbidity and mortality attributable to venous hypertension and potentially lethal thromboembolic events. Limited literature exists on the diagnosis and management of this rare anomaly, with most of the reports focusing on retrospective clinical experience at a few centers of excellence. Despite these limitations, a systematic approach to diagnosis and treatment of this anomaly is warranted and expounded on herein. When plausible, clinical recommendations based on best available literature are made., (Copyright © 2019 Society for Vascular Surgery. Published by Elsevier Inc. All rights reserved.)

Background: Klippel-Trenaunay syndrome (KTS) is a rare complex vessel malformation syndrome characterized by venous varicosities, capillary malformations, and limb hypertrophy. However, extensive heterotopic ossification (HO) secondary to this syndrome is extremely rare., Case Presentation: We report the case of a patient with previously undiagnosed KTS and extensive HO who presented with a femoral fracture secondary to a motor vehicle accident. Extensive ossification, which leads to compulsive contracture deformity and dysfunction of the leg, was distributed on the flexor muscle side, as revealed by the radiograph. The diagnosis was finally established by combining imaging and histological analysis with classical clinical symptoms. Amputation was performed at the fracture site proximal to the infected necrotic foci. Open management of the fracture was challenging owning to the pervasive ossification and tendency for excessive bleeding. Gene sequencing analysis showed homozygous mutation of FoxO1 gene., Conclusions: Definitive diagnosis of a combination of KTS and extensive HO requires detailed imaging analysis and pathologic evidence. Mutation of the FoxO1 gene, which regulates bone formation by resistance to oxidative stress in osteoblasts, is a potential factor in the microenvironment of malformed vessels caused by KTS.

We aim to review the imaging findings of Klippel-Trenaunay syndrome. This disorder characterized clinically by a triad of capillary malformations manifesting as a port-wine stain, venous varicosities typically along the lateral aspect of the lower extremities, and bone and/or soft tissue hypertrophy. Imaging of extremities shows unilateral venous varicosities, persistent embryonic veins, anomalous of the superficial and deep venous system, low-flow venolymphatic malformations, and bony and soft tissue hypertrophy. Other findings include neurospinal as cavernoma, aneurysm, and hemimegalencephaly, pulmonary as pulmonary thromboembolism and pulmonary hypertension and visceral as gastrointestinal and genitourinary vascular anomalies. Imaging may detect associated lesions and differentiate from simulating lesions.

Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder presenting with asymmetric limb hypertrophy, cutaneous capillary malformations and lower extremity varicosities. We discuss a 27-year-old man born with varicosities on both lower extremities, which progressively enlarged. Physical examination showed a grossly enlarged right hand. There were multiple compressible varicosities, diffuse port-wine stains on the right leg and limb-length discrepancy on the left leg. CT angiogram and Doppler ultrasound revealed several venous varicosities. Ectatic veins in the right leg converge into the lateral marginal vein of Servelle, an embryonic vein, typically seen in KTS patients. KTS is diagnosed clinically and imaging plays a role in differentiating this from other disease entities that present similarly. Doppler ultrasound is the initial imaging of choice to characterise varicosities and to identify thrombosis and reflux. Plain radiographs confirm limb hypertrophy. MRI and CT angiograms are useful to evaluate vascular anomalies and its accompanying soft tissue changes., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Klippel-Trenaunay-Weber syndrome (KTWS) is a rare syndrome characterized by the triad of cutaneous hemangiomas, venous varicosities, and osseous-soft tissue hypertrophy of the affected limb. Clinical manifestations, genetic testing, and radiologic imaging are the key steps in diagnosing this syndrome., Case Description: An 18-month-old boy was brought for follow-up brain magnetic resonance imaging (MRI) with a history of right lower limb hypertrophy, cutaneous varicosities, and hemangiomas diagnosed at birth. A baseline MRI at 12 months revealed multiple hemorrhagic lesions within the cerebrum, the largest in the right temporal lobe, which was treated surgically at the age of 18 months because of its rapid growth. This is the youngest patient with KTWS treated surgically for intracranial hemangiomas., Conclusion: KTWS is a rare disease with a wide range of manifestations. Multisystemic evaluation of this group of patients should be performed to identify cavernous hemangiomas at the early stage of life and adequately treat them in the future. Treatment of KTWS patients with cavernous hemangiomas should not be different from the treatment of patients with any other hemangiomas, and surgical intervention should be considered on a case-to-case bases., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Vascular malformations and tumors, also known as "vascular anomalies", comprise an extensive variety of lesions involving all parts of the body. Due to a lack of a complete understanding of the origin and histopathology of such lesions, this field has been traditionally obscured by the use of an unclear nomenclature. Knowledge of the classification and clinical and imaging characteristics of this group of lesions is paramount when managing these patients. The objective of this series of two articles is to review the current classification of vascular anomalies, to describe the role of imaging in their diagnosis, to summarize their distinctive histopathologic, clinical and imaging features, and to discuss the treatment options. High-flow lesions were discussed in the first article of this series. In this second article, we will focus on low-flow lesions, including complex syndromes with associated low-flow malformations., (Copyright © 2018 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.)

Congenital limb length discrepancy disorders are frequently associated with a variety of vascular anomalies and have unique genetic and phenotypic features. Many of these syndromes have been linked to sporadic somatic mosaicism involving mutations of the phosphoinositide 3-kinase (PI3K)/protein kinase B (AKT)/mammalian target of rapamycin (mTOR) pathway, which has an important role in tissue growth and angiogenesis. Radiologists who are aware of congenital limb length discrepancies can make specific diagnoses based on imaging findings. Although genetic confirmation is necessary for a definitive diagnosis, the radiologist serves as a central figure in the identification and treatment of these disorders. The clinical presentations, diagnostic and imaging workups, and treatment options available for patients with Klippel-Trenaunay syndrome, CLOVES (congenital lipomatous overgrowth, vascular anomalies, epidermal nevi, and scoliosis/spinal deformities) syndrome, fibroadipose vascular anomaly, phosphatase and tensin homolog mutation spectrum, Parkes-Weber syndrome, and Proteus syndrome are reviewed. © RSNA, 2019.

We present here two-term neonates presenting with right lower limb hypertrophy, a port-wine stain, acral abnormalities and clubfeet. These neonates had overlapping features of Klippel Trenaunay syndrome and congenital lipomatous overgrowth, vascular malformation, epidermal nevi and scoliosis/skeletal abnormalities. Such overgrowth syndrome has not been previously described in the literature. Both the neonates are doing well and are under regular follow-up., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

A 25-year-old female was referred to the Interventional Radiology Department for investigation and treatment of a rectal venous malformation (RVM) causing large recurrent episodes of rectal bleeding and chronic anaemia. Magnetic resonance imaging (MRI) demonstrated a large venous malformation affecting the rectum, lower pelvis and left thigh. After three failed attempts at injection foam sclerotherapy using fluoroscopic colonoscopy, a multidisciplinary team proposed an embolization procedure of the arterial inflow to the venous malformation. Following discussion with the patient, embolization of the superior rectal arteries was undertaken with immediate on-table fluoroscopic improvement in the RVM. Post-treatment, a significant reduction in bleeding, was reported by day 10 with subsequent return to activities of daily living and full employment. Follow-up MRI at 1 year demonstrated significant reduction in bowel-wall thickening.

Klippel-Trénaunay syndrome (KTS) is a rare angio-osteo-hypertrophic syndrome characterized by vascular malformations, soft tissue and/or bone hypertrophy, and varicose veins. For the purpose of describing the imaging findings and elucidating the role of medical imaging in the diagnosis and assessment of patient with KTS, we have reviewed the imaging data of 14 KTS patients. The imaging features on different imaging modalities were analyzed. Unilateral lower limb involvement was evident in 71% of cases (n=10) and bilateral but asymmetric lower limb involvement in the remaining 29% of cases (n=4). The most commonly depicted imaging features were varicosities in 93% (n=13), muscle hypertrophy in 79% (n=11) and venous anomalies in 64% (n=9). Other less common imaging findings included lymphedema in 29% (n=4), arterial malformations 29% (n=4), soft tissue hemangiomas 21% (n=3), pelvic and thigh phleboliths 21% (n=3), venous aneurysms 21% (n=3), bone abnormalities 14% (n=2) and lymphadenopathy 14% (n=2). A severe unilateral lower limb deformity resulting in contractures and muscle atrophy of the whole limb was depicted in 1 case. The pathognomonic marginal vein of Servelle was identified in 2 cases. AV shunt was highly suspected in 4 cases and was confirmed by DSA in 1 case, making Klippel-Trénaunay-Weber syndrome a more apt diagnosis. Associated ipsilateral duplicated renal artery was found in 1 case. We have concluded that medical imaging is the cornerstone in the diagnosis and assessment of severity and complications, follow-up and differentiation of KTS from other similar conditions. Different imaging modalities play complementary roles in the evaluation of KTS patients.

Klippel-Trénaunay syndrome is a rare mixed malformation characterized by congenital varicose veins, low-flow venous and lymphatic malformations, hypertrophy of soft tissue and bone, and capillary malformations. A 35-year-old man with a diagnosis of Klippel-Trénaunay syndrome presented to the clinic with significant pain and swelling in the left leg. Initial conservative management with compression therapy failed. He was then managed surgically with preoperative placement of an inferior vena cava filter (because of a history of deep venous thrombosis and pulmonary embolism), followed by resection of the lateral embryonic vein, ligation of large perforators, and excision of smaller varicosities. He is doing well at 18 months of follow-up., (Published by Elsevier Inc.)

Competing Interests: Competing interests: None declared.

Objective: Klippel-Trénaunay syndrome (KTS) is described in the literature as a complex syndrome characterized by various combinations of capillary, venous, and lymphatic malformations associated with limb overgrowth. In the first description by Maurice Klippel and Paul Trénaunay, tridimensional bone hypertrophy was believed to be the cause of limb enlargement. The purpose of this study was primarily to assess the presence of real bone hypertrophy as a cause of enlargement of the limb and to underline the rare presence of undergrowth of the affected limb in patients with KTS., Methods: A two-center retrospective review including 17 KTS patients with various combinations of capillary, venous, and lymphatic malformation affecting the lower limb was performed. Differences in limb dimension were evaluated clinically. Width and length discrepancy of the affected limb was measured with radiologic imaging., Results: We found an increase of length in the affected limb in 80% of the patients. The leg length discrepancy varied from 0.2 to 2.6 cm. The median leg length discrepancy was found to be 1.4 cm. Three patients had a reduced length of the affected limb. Girth enlargement of the affected extremity was noticed in 60% of the patients, and 2 of 17 patients had hypotrophy of the involved limb. Hypertrophy (an increase in both length and width) of the bone was found in none of our cases, and the circumferential enlargement of the affected extremity was related only to soft tissue enlargement., Conclusions: In the literature, KTS is considered the prototype of overgrowth syndromes associated with complex vascular malformations. The majority of our patients showed limb length increase associated with soft tissue enlargement without an increase of bone width; there were also two patients with limb undergrowth. A real bone overgrowth (an increase in both length and width) was not present in our patients. Therefore, we could consider the absence of real bone hypertrophy as probably a new aspect of such confusing and controversial definitions of KTS. In addition, it would be more accurate to classify KTS patients on the basis of their phenotypic features (type of vascular malformation, types of overgrown tissue) rather than by use of an outdated eponym., (Copyright © 2017 Society for Vascular Surgery. Published by Elsevier Inc. All rights reserved.)

We report the case of a 19-year-old man who presented with a 12-year history of progressive fatigue, feeling hot, excessive sweating, and numbness in the left arm. He had undergone multimodal imaging and was diagnosed as having Klippel-Trénaunay-Weber syndrome (KTWS). This is a rare congenital disease, defined by combinations of nevus flammeus, venous and lymphatic malformation, and hypertrophy of the affected limbs. Lower extremities are affected mostly. Conventional modalities for evaluating KTWS are ultrasonography, CT, MRI, lymphoscintigraphy, and angiography. There are few reports on multimodal imaging of upper extremities of KTWS patients, and this is the first report of an infrared thermography in KTWS.

Persistent embryonic veins represent a major source of venous hypertension and morbidity in venous malformation syndromes, such as Klippel-Trénaunay syndrome and congenital lipomatous overgrowth, vascular malformations, epidermal nevus, and skeletal deformities syndrome. Surgical stripping and phlebectomy are the most commonly reported alternatives to compression therapy for refractory cases. These techniques, although effective in those patients who meet the necessary anatomic criteria, can be associated with bleeding, wound-related complications, and recurrence. Herein, we present a less invasive endovascular technique for elimination of these incompetent persistent embryonic veins. This technique has fewer anatomic restrictions and can be a suitable first-line option for management of refractory venous insufficiency in this particular population of patients., (Copyright © 2017 Society for Vascular Surgery. Published by Elsevier Inc. All rights reserved.)

Competing Interests: Competing interests: None declared.