(Radiographics. 1999;19:1093-1096.)
© RSNA, 1999
Pediatric Case of the Day1
Charles A. James, MD,
Janice W. Allison, MD and
Milton Waner, MD
1 From the Departments of Radiology (C.A.J., J.W.A.) and Otolaryngology (M.W.), University of Arkansas for Medical Sciences and Arkansas Children's Hospital, 800 Marshall St, Little Rock, AR 72202. From the 1998 RSNA scientific assembly. Received January 25, 1999; revision requested February 25 and received March 12; accepted March 19. Address reprint requests to C.A.J.
Index Terms: Bones, hypertrophy, 40.1444 • Klippel-Trénaunay syndrome • Lymphatic system, diseases, 99.81 • Soft tissues, diseases, 40.1444 • Soft tissues, MR, 40.121411, 40.121412, 40.12143 • Veins, extremities, 937.142, 937.753
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HISTORY
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A 15-year-old boy presented with marked deforming lipomatous enlargement of the left foot. As a neonate, the patient presented with massive enlargement of the right lower extremity and buttock with prominent superficial venous varicosites. Other than enlargement of the left third and fourth toes, the left lower extremity was normal in size. A cutaneous vascular lesion was observed along the medial aspect of the entire left lower extremity. Radiography and angiography were performed at that time. Conservative treatment proved ineffective, and at the age of 4 months the patient underwent amputation of the nonfunctional right lower extremity for recurrent sepsis caused by progressive cutaneous bleeding and ulceration. Angiography and contrast material–enhanced computed tomography (CT) were performed following surgery. During childhood, the patient required multiple surgical procedures involving the abdomen, the pelvis, and the amputation stump for infiltrative cystic lesions. In addition, surgical debulking was required for progressive soft-tissue enlargement of the left foot. Despite having undergone these surgical procedures, the patient now presented with the massive soft-tissue enlargement described earlier. Magnetic resonance (MR) imaging was performed.
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FINDINGS
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Anteroposterior radiography performed at birth demonstrated marked soft-tissue enlargement of the right lower extremity and several large, oval, calcified phleboliths (Fig 1). Angiography showed no evidence of an arteriovenous shunt in the enlarged right lower extremity (Fig 2). Angiography performed following amputation of the right lower extremity demonstrated a markedly enlarged right gluteal venous channel draining into a malformed pelvic deep venous system (Fig 3). Contrast-enhanced CT showed a markedly enlarged right gluteal venous channel and a rim-enhancing cystic lesion in the lower abdomen (Fig 4). Sagittal T1-weighted and coronal short-inversion-time inversion recovery MR images obtained 15 years later showed bulky soft-tissue enlargement of the left foot. The area of enlargement was isointense relative to fat (Figs 5, 6).
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Figures 1, 2. (1) Anteroposterior radiograph of the right lower extremity obtained when the patient was a neonate shows marked soft-tissue enlargement and multiple large, oval, calcified phleboliths (arrows). (2) Angiogram of the right lower extremity shows arterial branch tortuosity but no arteriovenous shunt.
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Figures 1, 2. (1) Anteroposterior radiograph of the right lower extremity obtained when the patient was a neonate shows marked soft-tissue enlargement and multiple large, oval, calcified phleboliths (arrows). (2) Angiogram of the right lower extremity shows arterial branch tortuosity but no arteriovenous shunt.
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Figure 3. Venous-phase arteriogram of the pelvis obtained following amputation of the right lower extremity shows a markedly enlarged right gluteal venous channel (arrowheads) draining into a malformed pelvic deep venous system.
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Figure 4. Axial contrast-enhanced CT scan obtained following amputation shows a markedly enlarged right gluteal venous channel (arrow) and a rim-enhancing macrocystic lymphatic malformation (arrowheads) in the lower abdomen. Patient positioning is asymmetric due to marked enlargement of the right gluteal soft tissues.
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Figures 5, 6. (5) Sagittal T1-weighted MR image of the left foot obtained when the patient was 15 years old shows bulky lipomatous enlargement with high signal intensity. (6) Coronal short-inversion-time inversion recovery MR image shows the bulky lipomatous mass with low signal intensity throughout (arrowheads).
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Figures 5, 6. (5) Sagittal T1-weighted MR image of the left foot obtained when the patient was 15 years old shows bulky lipomatous enlargement with high signal intensity. (6) Coronal short-inversion-time inversion recovery MR image shows the bulky lipomatous mass with low signal intensity throughout (arrowheads).
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DIAGNOSIS: Klippel-Trénaunay syndrome.
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DISCUSSION
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Klippel-Trénaunay syndrome consists of an enlarged extremity with associated cutaneous vascular lesions and underlying diffuse venous and lymphatic malformations. Although Klippel-Trénaunay syndrome generally involves only one of the lower extremities, bilateral involvement, upper extremity involvement, or extension into the trunk may occur (1). Klippel-Trénaunay syndrome must be distinguished from Parkes-Weber syndrome, in which an enlarged extremity occurs that is related to an underlying arteriovenous malformation.
In Klippel-Trénaunay syndrome, enlargement of the extremity consists of bone elongation or circumferential soft-tissue hypertrophy (1,2). The latter may be evident at birth or may become evident as the patient grows (3). The cutaneous vascular lesion is generally a capillary malformation and usually involves the enlarged limb, although involvement of the whole side of the body or of the contralateral limb may be seen (1,2). Prominent superficial varicose veins are present in a majority of patients with Klippel-Trénaunay syndrome (1,2,4). In over two-thirds of patients, a characteristic incompetent lateral venous channel arises near the ankle and extends a variable distance up the extremity to the infrainguinal or pelvic deep venous system (2). Extremity pain, spontaneous cutaneous hemorrhage, chronic venous insufficiency, or thrombophlebitis are commonly encountered (1,2). Less commonly, deep venous thrombosis or pulmonary embolism may result (1). Clinical sequelae of the lymphatic component of the syndrome include lymphangitis, cutaneous lymphatic vesicles, lymphorrhea, or mass effect from macrocystic portions of lymphatic malformations. Extension of venous malformation into the pelvis may result in recurrent rectal bleeding or hematuria (3). Clinical findings of high flow rates (pulsatility, thrill, bruit) are absent in Klippel-Trénaunay syndrome.
At radiography, bone elongation contributing to leg length discrepancy, soft-tissue thickening, or calcified phleboliths may be seen. Venography usually demonstrates extensive dilation of superficial veins and enlarged perforating veins communicating with the deep venous system. In some patients, segmental absence or hypoplasia of the deep venous system is seen and must be distinguished from incomplete filling with contrast material at venography (1,4). At lymphangiography, hypoplasia of the lymphatic system has been reported (2). Spin-echo MR images demonstrate a lack of enlarged high-flow arterial structures, and T2-weighted images show malformed venous and lymphatic lesions as areas of high signal intensity (5). MR imaging depicts deep extension of low-flow vascular malformations into muscular compartments and the pelvis and their relationship to adjacent organs as well as bone or soft-tissue hypertrophy (1). More recently, MR venography has been reported to display the significant findings in extremity venous malformations with a capability equal to that of conventional venography (6). Specifically, two-dimensional time-of-flight MR venography with an arterial flow direction presaturation pulse sequence can provide a global picture of the superficial varicosities, enlarged perforating veins, and absent or hypoplastic deep veins characteristic of Klippel-Trénaunay syndrome (6).
Treatment in a majority of patients with Klippel-Trénaunay syndrome is conservative and includes application of graded compressive stockings or pneumatic compression devices to the enlarged extremity. Percutaneous sclerosis of localized venous malformations or superficial venous varicosites may be indicated in some patients (6). Surgical treatment may include epiphysiodesis to control leg length discrepancy, excision of soft-tissue hypertrophy, stripping of superficial varicose veins, or, less commonly, reconstructive surgery at sites of deep venous obstruction (2,4,7). Care must be taken because the condition of patients with Klippel-Trénaunay syndrome may worsen if intervention is performed on dilated superficial collateral veins associated with deep vein hypoplasia (1,4,6).
In our patient, the triad of marked enlargement of the right lower extremity, a cutaneous vascular lesion of the left lower extremity, and findings of extensive combined venous and lymphatic malformations allowed the diagnosis of Klippel-Trénaunay syndrome, which had been apparent in the neonatal period. Conservative treatment of the right lower extremity with compressive bandage application failed to control recurrent skin ulceration and bleeding of extensive venous malformations, and amputation of the nonfunctional right lower extremity was required at 4 months of age. Over the next several years, multiple surgical excision procedures for residual abdominal and pelvic lymphatic malformations were required. Specifically, a large, macrocystic lymphatic malformation of the lower abdomen (Fig 4) was resected following progressive symptoms of abdominal mass effect. Multiple additional surgical procedures for superficial microcystic lymphatic malformations were required to control recurrent skin infection, cutaneous lymphatic vesicles, and chronic cutaneous lymph fluid drainage. Surgical lipomatous tissue debulking was required in early childhood for progressive soft-tissue enlargement of the left foot. Despite having undergone these surgical procedures, the patient presented in adolescence with marked deforming lipomatous enlargement of the left foot.
The constellation of extremity soft-tissue hypertrophy, combined diffuse venous and lymphatic malformations, and a cutaneous vascular lesion is characteristic of Klippel-Trénaunay syndrome. In addition to these findings, this case displays a marked interval progression of soft-tissue hypertrophy, which may occur with growth of the patient. Lifelong clinical follow-up is mandatory in this patient because the natural history of venous and lymphatic malformations is one of progressive enlargement.
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References
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HISTORY
FINDINGS
