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CASE REPORTS
KLIPPEL TRENAUNAY SYNDROME
ARSHAD S KHAN, GIRISH D BAKHSHI, PRASHANT B SANKAYE, VAIBHAV A THAKARE, SUNDERRAJ ELLUR, DEEPA R NAIR
Klippel-Trenaunay Syndrome (KTS) is a rare, congenital, vascular disorder affecting one or more limbs. Originally it was defined as a triad of congenital anomalies including hemangiomas, varicose veins and bony and soft tissue hypertrophy.1 However, the vascular nevus is the fundamental problem which leads to other complications. A form of the disease without nevus was also described.2
We present a case of 28 yr. old male who walked with limp and left lower limb varicosity with venous ulcer over left medial malleolus. He had undergone some surgery for varicosity three years back after which his disease worsened. He had distinctive left lower limb hypertrophy and Radiological studies proving osteohypertrophy of affected limb, dilated deep venous system and abnormal venous communication from left limb to right limb. Based on the clinical information and radiological findings and despite the absence of haemangiomas or vascular naevi the diagnosis of KTS is proposed.
INTRODUCTION
Klippel-Trenaunay syndrome (KTS) is an uncommon disease which was first described by two French doctors, Klippel and Trenaunay in 1900.1 This congenital vascular disorder is described by three main symptoms, known as the “triad,” affecting one or more limbs. The triad consists of cutaneous haemangioma, varicose veins, and bone and soft tissue hypertrophy. Typically, the cutaneous haemangioma is a substantial port-wine stain, or nevus. Varicose veins are easy to identify and often very numerous. The bone and soft tissue hypertrophy is variable and the affected limb may be either larger or smaller than the opposite, unaffected limb.
The medical community has used terms Klippel Trenaunay syndrome (KTS) and Klippel-Trenaunay Weber syndrome (KTWS) interchangeably. The consensus today is to distinguish KTS as hypertrophy and varicosity associated with port-wine staining; KTWS (also called Parkes-Weber syndrome) is similar but includes significant A-V malformation with shunting. Each case of KTS is unique and may exhibit the above characteristics to differing degrees.
It is usually limited to one limb. Sound clinical knowledge and examination of these cases is all that is required for diagnosing most of the cases and will avoid potential disastrous surgical management undertaken in form of stripping, ligation, excision, or sclerotherapy which are often contraindicated. We hereby present a case of 28 years old male whose diagnosis as KTS is proposed.
CASE REPORT
Present case is a 28 year old male who walked with limp was admitted with left lower limb varicosity since childhood, pigmentation, and venous ulcer at the malleolar region since four to five years. Clinical examination revealed multiple varicosities over left lower limb in the region of both long and short saphenous system predominantly over lateral and posterior aspects
(Fig. 1). The differences between both limb measurements were striking as Length 32'’/34'’, Calf girth 30 cm/37 cm, midthigh girth 40 cm/47 cm in right and left lower limb respectively, showing predominant left lower limb hypertrophy. Patient also had surgical scar in left groin, operated three years back for varicose veins. He also had communication between the superficial veins of opposite limb through a vein seen in the supra-pubic region (Fig. 2). X-ray study showed distinct soft tissue and Osteohypertrophy of left lower limb (Fig. 3). Duplex scan showing left lower limb massive superficial venous varicosities and dilated deep venous system with multiple anastomoses between superficial and deep venous system. Angiography showed no evidence of A-V fistula.
Patient was given conservative management with compression stockings and advised to have right heel inserts. Ulcer healed on conservative management. Follow up over six months has not shown ulcer recurrence. Patient is advised to follow up every six monthly.
DISCUSSION
In 1900, noted French physicians Klippel and Trenaunay1 described a syndrome in two patients presenting with a port-wine stain and varicosities with osteohepertrophy of affected limb. In 1907, unaware of above report Parkes Weber described arteriovenous malformation of the affected limb with three aforementioned symptoms.3 The aetiology of KTS is unknown. One theory is that KTS may be caused by mesodermal defect4 during foetal development causing maintenance of microscopic A-V communications. Another theory
Fig. 1 : Varicosity of left lower limb with limb hypertrophy
Fig. 2 : Abnormal superficial venous connection between left and right lower limb with scar of previous Herpes Zoster on trunk
Fig. 3 : X-ray Pelvis showing significant hypertrophy of left pelvic bone and femur
suggested intrauterine damage to the sympathetic ganglia or infermediolateral tract leading to microscopic A-V communications.5 The KTS is a rare congenital malformation that may include Port-wine stain (cutaneous capillary malformations), Soft tissue and bony hypertrophy and Venous malformations and lymphatic abnormalities. In a series of 252 patients at the Mayoclinic,6 63% of patients had all three features, 37% had two of three features. Varicosities in 72% and limb hypertrophy in 67%. The classic picture of Klippel-Trenaunay syndrome includes three symptoms; the lack of nevus flameus, as in our case, does not preclude the diagnosis, It has been reported that the proportion of patients lacking a port wine stain can reach even 68% cases.7 KTS can be associated with ulcers, hyperhidrosis, pain of the affected extremity, osteoporosis, and compensatory scoliosis as a complication of the differences in leg length.8 In our case the disease has been developing gradually leading to left lower limb enlargement and elongation with recurrent ulcerations. In many instances a thorough history and physical examination are all that will suffice9 for diagnosis. Xrays of affected limb will show soft tissue and bony hypertrophy5 and help to determine how fast limb is growing and help to determine proper timing for limb discrepancies of 1.5 cm or less. Currently Laser treatment can be effective in lightening the colour of port-wine stain. Surgical intervention10 in the treatment of varicosities and venous malformation is controversial. Venous stripping, ligation, excision, or sclerotherapy are contraindicated unless it involves superficial system with normal or mild reflux of deep venous system. Baskerville et al 4 demonstrated that some 90% of treated varicosities will redevelop; treatment can provide lasting improvement only for years. For greater limb discrepancies,11 orthopaedic surgery may be considered. Possible procedures include osteotomy, epiphysiodesis, or epiphyseal stapling. Follow up Patients with KTS should be monitored at least annually9 and more often if indicated. KTS is not always a static disease process. If progression of disease arises, imaging studies should be undertaken. Medical and/or surgical intervention should be done if indicated.
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2. Servelle M. Klippel and Trenaunay’s syndrome. Ann Surg 1985; 201: 365-73.
3. Weber FP. Angioma formation in connection with hypertrophy of limbs and hemihypertrophy. Brit J Derm 1907; 19 : 231-5.
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6. Jacob AG, Driscoll DJ, Shaughnessy WJ. Klippel-Trenaunay syndrome: spectrum and management. Mayo Clin Proc 1998; 73 (1) : 28-36.
7. Atherton DJ. Naevi and other developmental defects. In: Champion RH, Burton JL, Ebling FJG, eds. Textbook of Dermatology, 5th ed, Oxford 1992: 498-500.
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10. Gloviczki P, Stanson AW, Stickler GB. Klippel-Trenaunay syndrome: the risks and benefits of vascular interventions. Surgery 1991; 110 (3) : 469-79.
11. McGrory BJ, Amadio PC. Klippel-Trenaunay syndrome:orthopaedic considerations. Orthop Rev 1993; 22 (1) : 41-50. than me.
