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 Table of Contents  
CASE REPORT
Year : 2015  |  Volume : 8  |  Issue : 1  |  Page : 39-41

A neglected case of Klippel Trenaunay Weber syndrome


1 Department of Orthopaedics, Era's Lucknow Medical College, Lucknow, Uttar Pradesh, India
2 Department of Radiology, Era's Lucknow Medical College, Lucknow, Uttar Pradesh, India

Date of Web Publication13-Jun-2016

Correspondence Address:
Vikram Khanna
Ranjana Hospital, 13, D-Road, Allahabad - 211 003, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0975-7341.183958

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  Abstract 

This congenital vascular disorder is described by a “triad” of symptoms affecting one or more limbs. The “triad” constitutes varicose veins, cutaneous hemangioma, with bone and soft tissue hypertrophy. The cutaneous hemangioma presents as a substantial port-wine stain or nevus. Varicose veins are often very numerous. Bone and soft tissue hypertrophy is variable in presentation and the affected limb may be either larger or smaller than the normal limb. This disorder is generally reported in childhood or adolescent age groups. We herein present a neglected case of Klippel Trenaunay Syndrome with all the classical clinical and radiological findings. A 30-year-old man reported with the classical triad. On clinical examination substantial port wine stain was seen and radiographs showed multiple bony outgrowths whereas MRI showed multiple varicosities displaying heterogeneous hyper intense signals on T2 Weighted Images and T1 hypo intensity with hypertrophy of soft tissue in left lower limb.

Keywords: Abnormal venous channels, bony hypertrophy, Klippel Trenaunay, varicose veins, Weber syndrome


How to cite this article:
Khanna V, Singh G, Kumar S, Singh S. A neglected case of Klippel Trenaunay Weber syndrome. J Orthop Traumatol Rehabil 2015;8:39-41

How to cite this URL:
Khanna V, Singh G, Kumar S, Singh S. A neglected case of Klippel Trenaunay Weber syndrome. J Orthop Traumatol Rehabil [serial online] 2015 [cited 2019 Nov 14];8:39-41. Available from: http://www.jotr.in/text.asp?2015/8/1/39/183958


  Introduction Top


Kliipel Trenaunay Syndrome was first described by French physicians Klippel and Trenaunay in the year 1900. They had termed the syndrome as “nevus vasculosus osteohypertrophicus”.[1] Park Weber in 1907 coined the same condition as “hemangiectatic hypertrophy.” It has an incidence of about 2-5 in 100 000. It is an idiopathic and generally a sporadic condition, although suggestions of paradominant inheritance pattern have been there. Usually patients present in the first decade of life. Males are predominantly more affected than females. Klippel Trenaunay syndrome constitutes of a congenital circulatory disorder having cutaneous capillary hemangioma, bone and soft tissue hypertrophy and varicose veins. Several theories have been postulated for its pathogenesis but none have been proved so far. This is a case report of a neglected Klippel Trenaunay syndrome showing the classical triad.


  Case Report Top


Male patient, 30-year-old presented to us with complaints of dilated veins over outer aspect of left limb since birth. Dilatation over his limb aggravated on standing and walking and relieved on lying down or raising his limb.

On clinical examination cutaneous hyper pigmentation with raised margins (port wine stains) was seen on outer aspect of his left lower limb extending from mid-thigh to mid-calf region [Figure 1]. Multiple varicose veins were seen on his left lower leg. The differences between both limb measurements were striking as length 31 inches/33 inches, calf girth 12 inches/15 inches, mid-thigh girth 16 inches/18 inches in right and left lower limb, respectively, showing left lower limb hypertrophy. Incompetent saphenofemoral junction was seen on Trendelenberg test.
Figure 1: Clinical photograph of both the lower limb shows cutaneous hyper pigmentation with raised margins (port wine stains) over the lateral aspect of left lower limb extending from mid-thigh to mid-calf region. Multiple varicose veins are seen on his left lower leg. There is increase girth of involved limb. Also a close up of the lesion showing the texture of the lesion

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Radiographically left leg showed a bony outgrowth arising from upper end of tibia laterally with deformed fibula. The deformity of lower shaft of left Fibula consisted of areas of cortical thickening with irregularity and marrow sclerosis. There was cortical thickening noted in left lower tibia [Figure 2]. Ultrasonographic analysis revealed multiple abnormal dilated venous channels within subcutaneous and intramuscular planes in left leg predominantly in lateral aspect with dilated perforator in popliteal region along with associated hypertrophy of soft tissue of left leg with incompetent left sapheno femoral and popliteal junctions. Magnetic resonance imaging of left lower limb was performed which revealed marked hypertrophy of soft tissues of left leg [Figure 3]. The hypertrophied soft tissue showed heterogeneous signals hyper intense on T2 Weighted Images. Multiple abnormal vascular channels with T2 hyper intensities and T1 hypo intensities suggestive of varicosities were seen within soft tissue of all compartments involving subcutaneous and muscular planes. Pressure over the underlying bones tibia and fibula with focal areas of sclerosis and bone edema in shaft of left fibula mainly in lower half was also seen.
Figure 2: Antero-posterior and lateral radiograph of left leg showing a bony outgrowth arising from upper end of tibia with deformed fibula. Areas of cortical irregularity and thickening with marrow sclerosis are seen in lower shaft of left fibula

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Figure 3: Sagittal TIRM (3A), coronal T1W (3B) and axial T2W (3C) MR images showing hypertrophy of soft tissues of left leg displaying heterogeneous signals hyper intense on T2 and hypo intense on T1WIs. Multiple abnormal vascular channels (thin white arrow) with T2 hyper intensities & T1 hypo intensities suggestive of varicosities are seen within soft tissue of all compartments, subcutaneous tissues and in muscular planes

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On the basis of above triad of clinical, port wine stain and limb hypertrophy, and radiological, lateral varicosity diagnosis of Klippel Trenaunay  Weber syndrome More Details was made. No active management was done for the patient as the patient was asymptomatic. Limb elevation along with elastic bandage application was advised and the patient was called for regular follow up to check for any complications like AV Fistula and bony impingement of the soft tissues along with right foot raise of 2 inches.


  Discussion Top


Klippel Trenaunay syndrome is a sporadic mesodermal abnormality. It consists of combined vascular malformations of capillary, venous and lymphatic type, varicosities of unusual distribution and limb enlargement. Presenting age is at birth or during early infancy or childhood. In this case report the presenting age of the patient is 30 years. The lower limb is involved in about 95% and upper limb involvement is seen in 5%.

Capillary hemangioma has a distinct border and is often seen on lateral aspect of limb and has a deep violet color. It may be limited to skin or extend deep to subcutaneous tissue including muscle and bone.[2] It is usually unilateral, segmented and never crosses the midline. It increases in proportion to the child's growth with the maximum increase during the growth spurt and stops once the growth of the body stops. It may involve any part of the body, although face and cervical region are the most commonly affected areas. The lesion was present on the lower limb in the patient. Lesions may change color from being light pink in infancy to become progressively darker (dark red) as the child ages. The patient's lesion was deep violet in color. The patient also develops varicose veins which may be present at birth as large superficial vein extending from buttocks to the foot. They might be extensive, and generally spare the saphenous distribution. These areas of vascular malformations may remain stable or enlarge gradually, causing pain, lymph edema, thrombophlebitis and ulcers.

Limb hypertrophy is seen secondary to increased length and/or increased girth. In the beginning it may affect the digits only causing macrodactyly, syndactyly, polydactyly or oligodactyly. Increase in the limb girth is the only feature where soft tissues rather than bones are primarily affected. Lengthening of the limb may initially be present as gait disturbances. In rare cases, the affected limb may show atrophy rather than hypertrophy.[3] Other features which might be associated are spina bifida, hypospadias, hyperhidrosis, hypertrichosis, paresthesia, decalcification of affected bone, chronic venous insufficiency, dermatitis, poor wound healing, and venous ulceration.

Radiological analysis plays an important part in diagnosis of KT Syndrome. X-Ray shows bone elongation, soft tissue thickening. USG shows extensive dilatation of superficial veins and segmental absence or hypoplasia of deep venous system. Magnetic resonance imaging [MRI] may show hypo intense on T1 and hyper intense signals on T2 which suggests clear delineation of venous and lymphatic malformation. MRI is also useful for studying the extensions of lesions and relationship to adjacent organ and structure.[4]

Treatment may include surgery, sclerotherapy and compression therapy. Compression Bandages help to reduce the effect of chronic venous insufficiency in the affected limb. Limb elevation also helps. Cellulitis and thrombophlebitis may be managed with antibiotics, limb elevation and analgesia. Prophylactically aspirin with or without anticoagulants may be given in patient who have recurrent thrombophlebitis or before surgery. Different types of surgical intervention including vein ligation, vein stripping, vein resection and amputation may be performed.[5],[6]

 
  References Top

1.
Klippel M, Trenaunay P. The Noevus variques osteohypertrophicus. Arch Gen Med (Paris) 1900;3:641-72.  Back to cited text no. 1
    
2.
Garzon MC, Huang JT, Enjolras O, Frieden IJ. Vascular malformation. Part II: Associated syndromes. J Am Acad Dermatol 2007;56:541-64.  Back to cited text no. 2
    
3.
Weber FP. Angioma-formation in connection with hypertrophy of limbs and hemi-hypertrophy. Br J Dermatol 1918;19:231-5.  Back to cited text no. 3
    
4.
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. 4
    
5.
Servelle M. Klippel and trénaunay's syndrome.768 operated cases. Ann Surg 1985;201:365-73.  Back to cited text no. 5
    
6.
Gloviczki P, Stanson AW, Stickler GB, Johnson CM, Toomey BJ, Meland NB, et al. Klippel Trenaunay syndrome: The risks and benefits of vascular interventions. Surgery 1991;110:469-79.  Back to cited text no. 6
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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