Table of Contents  
CASE REPORT
Year : 2016  |  Volume : 9  |  Issue : 4  |  Page : 522-526  

Klippel–trenaunay syndrome: A case report with radiological review


1 Department of Radiodiagnosis, D. Y. Patil University, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pimpri, Pune, Maharashtra, India
2 Department of Medicine, 7 Air Force Hospital, Kanpur, Uttar Pradesh, India

Date of Web Publication12-Jul-2016

Correspondence Address:
Amit T Kharat
Department of Radiodiagnosis, D. Y. Patil University, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pimpri, Pune - 411 018, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0975-2870.186069

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  Abstract 


Klippel–Trenaunay Syndrome is a congenital disorder with a rare incidence of 3-5/1,00,000. It is characterized by a triad of capillary malformation (hemangioma or port-wine stain), venous varicosities, and bony or, soft-tissue hypertrophy. The malformation in the capillary is usually limited to a single extremity though multiple extremities can be involved. This disease is subject to significant morbidities such as bleeding, deep vein thrombosis, and embolic complications. Our case study was a young male of 6 years suffering since birth, from a painful port-wine stain on the lateral aspect of the right thigh, enlarged right femur, and soft tissues. Vascular Doppler ultrasound, skeletal X-ray, and magnetic resonance imaging of the limb indicated a Klippel–Trenaunay disease. This article describes a case study of a child presenting with Klippel–Trenaunay including a review of the syndrome and treatment recommendations.

Keywords: Angio-osteohypertrophy, hemangiectasia hypertrophicans and nevus verucosus hypertrophicans, Klippel–Trenaunay Syndrome, nevus varicosus osteohypertrophicus syndrome


How to cite this article:
Kharat AT, Bhargava R, Bakshi V, Goyal A. Klippel–trenaunay syndrome: A case report with radiological review. Med J DY Patil Univ 2016;9:522-6

How to cite this URL:
Kharat AT, Bhargava R, Bakshi V, Goyal A. Klippel–trenaunay syndrome: A case report with radiological review. Med J DY Patil Univ [serial online] 2016 [cited 2022 Dec 8];9:522-6. Available from: https://www.mjdrdypu.org/text.asp?2016/9/4/522/186069




  Introduction Top


Klippel–Trenaunay Syndrome (KTS) is a congenital disorder [1] with a rare incidence of 3-5/100,000. It is characterized by a triad of capillary malformation (hemangioma or port-wine stain), venous varicosities, and bony or, soft-tissue hypertrophy. The diagnosis of KTS is usually made when any two of the three features are present. Capillary malformations may be absent in the atypical form.[2] The vascular malformation is usually limited to a single extremity though multiple extremities can be involved. This disease is subject to significant morbidities such as bleeding, deep vein thrombosis, and embolic complications. Other authors prefer to separate Klippel–Trenaunay–Weber Syndrome (KTWS) with the usage of the term Parkes–Weber Syndrome to describe the condition in those patients who have true arteriovenous malformations in addition to KTS.[3] This article describes a case study of a child presenting with Klippel–Trenaunay including a review of the syndrome and treatment recommendations.


  Case Report Top


A 6-year-old child born out of nonconsanguineous marriage presented to us with a history of progressive enlargement of the right lower limb and port-wine stain on the lateral aspect of the thigh since birth [Figure 1]a and [Figure 1]b. He had pain over the port-wine stain with abnormal hair growth. He also had complained of altered gait due to the discrepancy in the limb-length. On examination, he had hypertrophy of the right femur. There was a large port-wine stain on the lateral aspect of the right femur along with few small stains all over the body [Figure 1]c. Multiple hair growths were present over the port-wine stain. He also had rash marks all over the body due to the previous episode of chicken pox which was treated. Routine hematological examination showed normal blood profile. X-ray pelvis with both hip joints and right thigh showed increased lengthening of the right femur as compared to the left causing pelvic tilt and hence, abnormal gait [Figure 2]. Furthermore, soft-tissues hypertrophy was not as significant as a comparison to the left. Magnetic resonance imaging (MRI) coronal images revealed diffuse irregular tortuous channels in the subcutaneous plane involving the entire thigh appearing hypointense on T1 [Figure 3]a and hyperintense on T2-weighted and short-tau inversion recovery images [Figure 3]b and [Figure 3]c with flow voids suggestive of venous collaterals. Furthermore, hypertrophy of muscle of both compartments noted. Venous Doppler confirmed the presence multiple venous collaterals with no arteriovenous malformations. These collaterals were more beneath the port-wine stain as seen on gray scale ultrasound [Figure 4]. No evidence of venous thrombosis noted in either of deep or superficial veins. No obvious abnormalities of the deep venous system were seen. No arterial abnormalities were noted. As the child did not have any complication, parents were reassured and informed of the possible complications and were advised to come for regular follow-up for limb-length monitoring. Ascending and descending venography were advised to the patient for complete evaluation of the venous channels and their connections, to which patient did not follow-up.
Figure 1: (a) Enlarged right femur with soft tissue swelling causing pelvic tilt resulting in altered gait. (b) A large port-wine stain on the lateral aspect of right thigh. (c) Other small port-wine over gluteal region

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Figure 2: X-ray pelvis with both hip joints and thigh showed increased lengthening of the right femur as compared to the left causing a pelvic tilt. Bones reveal normal density. There is increased girth of the soft tissue on right side as compared to left

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Figure 3: (a) T1-weighted coronal image, (b) T2-weighted coronal image, (c) short-tau inversion recovery coronal image diffuse irregular tortuous channels in the subcutaneous plane involving the entire thigh appearing hypointense on T1, hyperintense on T2-weighted and short-tau inversion recovery images with flow voids suggestive of venous collaterals. Furthermore, hypertrophy of muscle of both compartments noted

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Figure 4: Gray-scale high-resolution ultrasound image reveals multiple dilated tortuous veins below the site of port-wine stain

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  Discussion Top


KTS was described by two French physicians, Klippel and Trenaunay in 1900.[4] It is a triad of capillary malformation, venous/lymphatic varicosity with soft tissue, and bony hypertrophy. Some authors use the term KTWS to describe the conditions affecting those individuals who have significant arteriovenous malformations as one of the component of their KTS.[5] Other authors prefer to separate these two conditions and use the term Parkes–Weber Syndrome to describe the condition in those patients who have arteriovenous malformations in addition to KTS.[3]

It is now defined as a combination of capillary malformations, soft tissue, and bone hypertrophy, and lymphatic/venous malformations. The diagnosis of KTS can be made when any two of the three features are present.[6] Most cases of KTS are sporadic with both males and females equally affected, with no racial predilection, and usually manifests at birth, or during the childhood.[6]

Hypertrophy is the most variable of the three classic features of KTS. Enlargement of the extremity can be either bone elongation, circumferential soft-tissue hypertrophy, or both. On clinical examination, hypertrophy often manifests as a leg-length discrepancy, although any limb may be affected. Significant limb-length discrepancy, defined as that amount that would necessitate orthopedic intervention, is relatively uncommon, occurring in only 14% of patients in one study.[5]

Capillary malformations are the most common cutaneous manifestation of KTS.[6] Typically, capillary malformations involve the enlarged limb, although may be seen in any part of the body. The lower limb is the most common site of malformations found in approximately 95% of patients.[5] When found in the trunk, the malformations rarely cross the midline. If they are large enough, the cutaneous lesions may sequester the platelet, which leads to Kasabach–Merritt Syndrome, which is a type of consumptive coagulopathy.[7]

The vascular changes found in KTS are congenital. Unlike blood vessel tumors, in which endothelial cells grow in excess, the number of endothelial cells in vascular malformations is normal, but the vessels are improperly formed and are remodeled. Therefore, these lesions do not respond to the agents used to treat hemangioma, and the term hemangioma should be avoided in the description of the cutaneous findings in KTS.[5]

Varicose veins are present in a majority of patients with KTS.[8] Venous malformations can occur in both the superficial and deep venous systems. Superficial venous abnormalities usually range from ectasia of small veins and can be either persistent embryologic veins, or large venous malformations.[6] Deep venous abnormalities can be either aneurysmal dilatation, aplasia, hypoplasia, duplications, or venous incompetence.

Complications are related to the vascular pathologic process. Complications include stasis dermatitis; thrombophlebitis; cellulitis; with serious complications including thrombosis, coagulopathy, pulmonary embolism, congestive heart failure (in patients with arteriovenous malformations), and bleeding from abnormal vessels in the gut, kidney, and genitalia.[5],[6],[9]

Vascular malformations that involved the gastrointestinal (GI) and genitourinary tracts have also been reported, and it can be a significant source of morbidity. Patients having vascular malformations involving the bladder frequently usually have rectosigmoid or pelvic organ involvement.[8],[10],[11] Rectal and bladder hemorrhage are few of the serious complications in pelvic vascular malformations and have been reported in 1% of cases.[11]

Involvement of the GI tract is common in KTS as thought previously (occurring in perhaps as many as 20% of patients) and usually goes unrecognized in such patients without overt symptoms. Bleeding is usually the most common and earliest symptom reported in KTS patients with GI involvement. The most frequently involved sites of GI involvement include the distal colon and rectum.[11],[12],[13] Clinical manifestations can be from occult bleeding to massive hemorrhages with or without consumptive coagulopathy.

Genitourinary involvement in patients with KTS seems to occur in the more severe cases. The absence of limb varicosities or malformations does not exclude the presence of pelvic involvement. Intraabdominal and intrapelvic extension of KTS frequently occurs and can occur concurrently with the lower abdominal, pelvic, and cutaneous involvement of the external genitalia.[10] Gross hematuria, is generally recurrent and painless and is first clinical sign suggesting bladder involvement and frequently occurs early in life.[10] Vascular malformations usually located at the anterior bladder wall and dome while the trigone and bladder neck are rarely involved.[10] Genital lesions usually do not have clinical problems for patients with KTS; however, some patients may develop erectile dysfunction due to abnormal penile veins.[14]

Imaging has an important role in the diagnosis and evaluation of KTS. At plain radiography, phleboliths in a young patient are usually diagnostic for venous malformations and are manifestations of prior hemorrhage or thrombus. Barium studies can show luminal narrowing of the affected small and large bowel that is distensible, with a scalloped mucosal outline caused by the presence of varicosities or submucosal vascular malformations.[7],[12] Sonography may be used to identify the abnormal veins and varicosities. Computed tomography of the abdomen and pelvis provides a simple, noninvasive means of assessing visceral vascular malformations.[15] MRI is performed to assess the soft-tissue extent of vascular malformations in patients with KTS.[15] The role of MR angiography in analyzing vascular malformations in KTS has not been well defined, but the modality has the potential to depict these lesions with better accuracy.[12] In cases of hemorrhage that require surgical intervention, preoperative angiography is done to check the anatomical structure involved and involvement of intestine, hence, guiding surgical resection.[12]

Management and treatment in GI and genitourinary vascular malformations depends on the severity of blood loss and its extent.[10],[12] In cases of transfusion dependency and bleeding episodes which can be life-threatening, definitive surgical therapy is required, which involves resection of the diseased bowel. Both partial cystectomy and conservative treatment can be done in the treatment of gross hematuria associated with genitourinary vascular malformations.[10]

It is important to note that patients with KTS frequently can have additional malformations other than the classic triad. These malformations can include abnormalities in the arteries and lymphatic vessels and in various parts of the body. These variations in symptoms strongly suggest that KTS is genetically heterogeneous and affected by many factors.

Until recently, genetic links to the origin of KTS were lacking. In 2004, Tian et al.[16] described two genetic defects in an angiogenic protein, VG5Q, in patients with KTS. This mutation, named E133K, changes the property of the protein such that it becomes hyperactive and causes stimulation of angiogenesis more strongly than the normal VG5Q protein. However, the genetic basis of KTS is far from being solved.

No definitive treatment is possible for KTS. Imaging studies such as contrast enhanced MRI, ultrasonography, and Doppler study are needed for proper diagnosis and to delineate the extent of lesion, thus planning the interventions if required. Treatment is done for reducing the symptoms and preventing complications. Active intervention is done only when there is localized lesion, or serious complication is present such as bleeding or cardiac failure. Treatment options include surgery, sclerotherapy, and compression therapy. Laser treatment of hemangioma is useful in lightening the port-wine stain; nowadays, the flashlamp-pumped pulsed dye laser is preferred. It is also indicated in the presence of ulceration. Ulcers heal more quickly after laser and are most effective when performed at an early stage, and multiple sittings are usually required for the desired effect.

Hypertrophy of a limb leads to vertebral scoliosis and abnormalities of gait. Degenerative joint disease can also occur.

Regarding limb hypertrophy, if leg-length discrepancy exceeds 2.0 cm at the time of skeletal maturity, treatment by epiphysiodesis can be done.

Patients with KTS should be monitored at least annually and more frequently if clinical symptoms are present. If there is a progression of disease, imaging studies should be done, and proper intervention carried out if indicated.


  Conclusion Top


To conclude, KTS being a rare disease should be diagnosed early with the classical triad and battery of imaging modalities are important as it helps in confirmation, monitoring the progression, identification of complications, and planning the intervention.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Oduber CE, van der Horst CM, Hennekam RC. Klippel–Trenaunay syndrome: Diagnostic criteria and hypothesis on etiology. Ann Plast Surg 2008;60:217-23.  Back to cited text no. 1
    
2.
Dhir L, Quinn AG. Persistent fetal vasculature and spontaneous hyphema in a patient with Klippel–Trénaunay-Weber syndrome. J AAPOS 2010;14:190-2.  Back to cited text no. 2
    
3.
Maari C, Frieden IJ. Klippel–Trénaunay syndrome: The importance of “geographic stains” in identifying lymphatic disease and risk of complications. J Am Acad Dermatol 2004;51:391-8.  Back to cited text no. 3
    
4.
Klippel M, Trenaunay P. Du naevus variquex osteohypertrophique. Arch Genet Med Paris 1900;3:611-72.  Back to cited text no. 4
    
5.
Berry SA, Peterson C, Mize W, Bloom K, Zachary C, Blasco P, et al. Klippel-Trenaunay syndrome. Am J Med Genet 1998;79: 319-26.  Back to cited text no. 5
    
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Jacob AG, Driscoll DJ, Shaughnessy WJ, Stanson AW, Clay RP, Gloviczki P. Klippel-Trénaunay syndrome: Spectrum and management. Mayo Clin Proc 1998;73:28-36.  Back to cited text no. 6
    
7.
Ghahremani GG, Kangarloo H, Volberg F, Meyers MA. Diffuse cavernous hemangioma of the colon in the Klippel-Trenaunay syndrome. Radiology 1976;118:673-8.  Back to cited text no. 7
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8.
Baskerville PA, Ackroyd JS, Lea Thomas M, Browse NL. The Klippel-Trenaunay syndrome: Clinical, radiological and haemodynamic features and management. Br J Surg 1985;72:232-6.  Back to cited text no. 8
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Al-Salman MM. Klippel–Trénaunay syndrome: clinical features, complications, and management. Surg Today 1997;27:735-40.  Back to cited text no. 9
    
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Furness PD 3rd, Barqawi AZ, Bisignani G, Decter RM. Klippel–Trénaunay syndrome: 2 case reports and a review of genitourinary manifestations. J Urol 2001;166:1418-20.  Back to cited text no. 10
    
11.
Servelle M, Bastin R, Loygue J, Montagnani A, Bacour F, Soulie J, et al. Hematuria and rectal bleeding in the child with Klippel and Trenaunay syndrome. Ann Surg 1976;183: 418-28.  Back to cited text no. 11
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12.
Wilson CL, Song LM, Chua H, Ferrara M, Devine RM, Dozois RR, et al. Bleeding from cavernous angiomatosis of the rectum in Klippel-Trenaunay syndrome: Report of three cases and literature review. Am J Gastroenterol 2001;96:2783-8.  Back to cited text no. 12
    
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Schmitt B, Posselt HG, Waag KL, Müller H, Bender SW. Severe hemorrhage from intestinal hemangiomatosis in Klippel-Trenaunay syndrome: Pitfalls in diagnosis and management. J Pediatr Gastroenterol Nutr 1986;5:155-8.  Back to cited text no. 13
    
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Lee PH, Kellett MJ, Bailey MJ, Pryor JP. Case report: Klippel-Trenaunay syndrome as a cause of erectile dysfunction. Clin Radiol 1996;51:596.  Back to cited text no. 14
    
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Kanterman RY, Witt PD, Hsieh PS, Picus D. Klippel-Trenaunay syndrome: Imaging findings and percutaneous intervention. AJR Am J Roentgenol 1996;167:989-95.  Back to cited text no. 15
    
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Tian XL, Kadaba R, You SA, Liu M, Timur AA, Yang L, et al. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature 2004;427:640-5.  Back to cited text no. 16
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]


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