A 10-year-old girl presented with a history of recurrent painful swelling of the left knee with mild ecchymosis. The latest episode of tender swelling of soft tissue along the left knee was preceded by a direct blow to the area during a ball game. In addition, she has had an abnormally grown left lower limb with scattered multiple soft tissue masses throughout the limb since birth.

•Physical examination revealed diffuse swelling of the entire left limb, which was longer and larger than the opposite limb and more pronounced along the foot and lower leg. The swollen limb had slightly increased firmness on palpation throughout its entire length except for the soft tissue mass areas.

•Multiple soft tissue masses were easily compressible and scattered from the dorsum of foot to the upper thigh; their diameters varied between 2 and 8 cm.

•Similar lesions were also noticed at the left perineum, left labia, left lower abdomen, and left flank. Diffuse swelling along the medial side of left foot collapsed spontaneously when the foot was elevated.

•Further evaluation of the skeletal system revealed the left lower extremity to be 5.0 cm longer – 3.0 cm longer in the tibia and 2.0 cm longer in the femur – in total length than the right lower extremity, accompanied by pelvic tilt and compensatory scoliosis of the lower spine.

•However, the patient had minimal limitation of her daily activities except for moderate limping.

•Family history and past history were unremarkable except for a vague history of cellulitis along the affected limb.

B.-B. Lee

Department of Vascular Surgery, Georgetown University

School of Medicine, Washington, DC, USA

Question 1

What is the most fundamental problem on which clinician should focus in order to establish the proper diagnosis and treatment of this condition?

A.  Scoliosis with pelvic tilt

B.  Abnormal long-bone growth with length discrepancy

C.  Abnormal swelling of lower limb with scattered soft tissue tumors D.  Mechanical problem of knee joint with symptoms

Question 2

What is the most basic laboratory test required to verify the nature of the problem?

A.  Lumbosacral spine assessment

B.  Radiologic assessment of bone length discrepancy

C.  Duplex ultrasonography for the hemodynamic assessment D.  Locomotive test including gait evaluation

Question 3

Which of the following non-invasive studies could be most useful in the clinical diagnosis of the disease complex in our patient?

A.  Volumetric assessment of limb size

B.  Special radiologic study of epiphyseal plate of abnormally long bone C.  Magnetic resonance imaging (MRI) study of soft tissue masses

D.  Transarterial lung perfusion scintigraphy E.  Bone scan

Question 4

Which of the following non-invasive tests is not appropriate to assist in the differential diagnosis for the extremity lesions in our patient?

A.  Whole-body blood-pool scintigraphy (WBBPS) B.  Computed tomography (CT) scan

C.  Radionuclide lymphoscintigraphy

D.  Transarterial lung perfusion scintigraphy (TLPS) E.  Lymphangiography (lymphography)

44.1 

Clinical Evaluation

This patient underwent a thorough investigation of the nature and extent of the congenital vascular malformation (CVM) involved.

Acombinationofvariousnon-tominimally-invasivestudieswereperformedtoconfirm the clinical impression of venolymphatic malformation (VLM): duplex ultrasonography, whole-body blood-pool scintigraphy (WBBPS), magnetic resonance image (MRI) study, transarterial lung perfusion scintigraphy (TLPS), and/or radionuclide lymphoscintigraphy.

The primary hemodynamic impact and the secondary musculoskeletal impact of the venous malformation (VM) were assessed as the main CVM lesion in addition to the extent/degree of each component of the VM, truncular (T) and extratruncular (ET) form, involved in the extremity.

A thorough skeletal evaluation of the long-bone growth discrepancy of the lower extremity and the degree of pelvic tilt with its compensatory scoliosis was also made with conventional bone X-rays.

TheTLPSassessmentwasperformedsubstitutingarteriographicinvestigationofthelower extremity for the possible hidden micro-arteriovenous malformation (AVM) lesion, which wasmarginallyindicatedduetoanunusuallyincreasedvenousflowbytheisolatedVMlesion alone on the duplex scan under the normally developed and functioning deep vein system.

An ascending phlebography was also performed together with the percutaneous directpuncture phlebography as a therapeutic guide; mandatory confirmation of the presence of a normal deep vein system of the lower extremity was made before starting the treatment to the infiltrating ET-form lesion of the VM.

The final diagnosis confirmed extensive involvement of the VM as an infiltrating type of the ET form causing serious clinical impact directly to the venous system hemodynamically as well as to the skeletal system to induce abnormal long-bone growth of the left lower extremity. A moderate degree of venectasia as a T form of VM along the left femo- ral-popliteal vein segment was also found, by WBBPS, MRI and duplex scan, and subsequently confirmed by separate ascending phlebography.

A venectasia of the femoral vein was assessed to have a limited clinical significance at this stage in comparison to the ET-form lesions of the VM.

The lymphatic malformation (LM) component which is mixed with the ET form of VM, was confirmed as the ET form, giving minimum and limited clinical impact so that a conservative management/observation was instituted for this LM component.

Therefore, the ET-form lesions of VM along the knee region were selected for active treatment as a priority; this was followed by the ankle and foot lesions.

The primary indication to initiate the treatment immediately was that these lesions were potentially limb-threatening (e.g., hemarthrosis) due to their proximity to the joints with increased vulnerability to repeated trauma, especially as a cause of her knee symptoms.

The treatment was further indicated to arrest/slow down their impact on abnormal longbone growth.

Multiple infiltrating ET lesions of the VM along the knee region, which is surgically not amenable, were selected for ethanol sclerotherapy as independent therapy. Multisession

ethanol sclerotherapy was given using the absolute ethanol in the range of 80 to 100% concentration in calculated dosage – not exceeding 1.0 mg/kg of body weight as maximum dose per session – by direct puncture technique under general anesthesia. Close cardiopulmonary monitoring during the procedure was ensured to control and/or prevent transient pulmonary hypertension by the unavoidable spillage of ethanol into the systemic circulation from the lesion during treatment.

The symptomatic lesions along the knee with recurrent painful swelling following minor injuries were controlled well without complication/morbidity and substantially reduced the risk of intra-articular bleeding and subsequent hemarthrosis. Subsequently, the ET-form VM lesions at the foot and ankle underwent surgical excision following preoperative multisession ethanol and N-butyl cyanoacrylic glue embolosclerotherapy with much reduced perioperative morbidity to improve foot function.

Following successful control of multiple VM lesions along the knee, ankle, and foot with priority as a potentially limb-threatening condition, other VM lesions, scattered throughout the lower extremity, were also treated with absolute ethanol to assist further attempts to arrest the abnormal long-bone growth of the lower extremity. The abnormal long-bone growth is attributed to these VM lesions scattered within the muscular structure of the lower extremity in the extensive infiltrating type of ET, with significant impact on the venous circulation along the epiphyseal plate.

Inadditiontothemultisessionembolosclerotherapyasindependentand/oradjunctperioperative therapy to the VM lesions, the conservativesupportivemeasures toimprove and/ or maintain overall venous function have been supplemented with the use of a graded compression above-knee stocking to prevent chronic venous insufficiency.

The final decision for the T-form lesion was left femoral-popliteal venectasia, but it was decided to defer treatment until urgent treatment of the ET form of the VM was finished, but to keep it under close observation. It might eventually require treatment (e.g., venorrhaphy, venous bypass) to prevent development of venous thromboembolism when significant venous flow/volume reduction should occur following successful control of the ET form of VM lesions. The hemodynamic consequences of the treatment of such extensive ET-form lesions directly affect total venous blood volume through the deep vein system.

The LM component in this patient was treated only with complex decongestive therapy (CDT) in order to prevent full development of lymphedema. The infiltrating ET form of LM detected together with the ET form of VM has been shown to put extra burden on the marginally normal lymph-conducting system on lymphoscinti-graphic evaluation. Therefore, continuous surveillance for aggressive preventive measurement of local to systemic cellulitis along this ET form of LM lesions is mandated.

This patient will continue to be managed by the multidisciplinary team of the CVM Clinic at regular intervals for her entire lifetime, through periodical follow-up assessment of the treatment results and the natural course of the untreated lesions.

Question 5

What is the first priority in the management of this patient?

A.  Correction of scoliosis

B.  Correction of bone length discrepancy

C.  Control of abnormal hemodynamic status of lower extremity by vascular lesions