A 15 year old boy presented with localised gigantism and pigmentation of the distal right lower limb. Imaging revealed gross localised soft tissue and bony hypertrophy with grossly increased abnormal vascularities and arterio-venous channels.
A 15-year-old boy presented with a hugely swollen right leg, a steadily worsening limp and history of a discolored patch on the skin of the affected limb since birth which gradually became darkish in color. There was no other associated illness or injury. Distal right lower limb was hypertrophied below knee extending beyond the ankle with darkish discoloration of the thickened and rough skin over it (Fig 1). Tortuous subcutaneous vascular channels were seen without ulceration or tenderness but local temperature elevation, a fine thrill and a vague murmur could be appreciated on auscultation. A voluminous radial pulse with mild tachycardia was the systemic feature. Plain radiographs of the affected limb (Fig 2) showed bony hypertrophy and bowing with an abnormal alignment of the ankle joint. Chest radiograph and ultrasonography of the whole abdomen revealed normal findings. Doppler evaluation of the affected limb (Fig 3) showed low resistance flow in the femoral, popliteal, anterior and posterior tibial arteries with grossly increased venous flows. No exact arterio-venous connection could be delineated. CT scanogram revealed limb lengthening. Axial plain images showed hypertrophied tibia and fibula with hypertrophy of the muscles of the leg, gross thickening of the subcutaneous tissues and overall increased bulk of the limb extending from below the knee down to below the ankle. Contrast study revealed grossly increased vascularities in the affected region with early venous filling (Fig 4). CT angiogram confirmed the presence of increased vascularities, dilated tortuous vessels and multiple arterio-venous channels (Fig 5-6).
The association of arterio-venous fistulae with localized soft tissue and bone hypertrophy, cutaneous capillary malformations of an extremity which could be in the form of a port-wine stain, and congenital venous abnormalities or varicosities is termed as Klippel Trenaunay Weber Syndrome, also referred to by some as the Parker Weber Syndrome,. This is a rare sporadic condition with no racial or geographic predisposition. Although the cause is unknown, many investigators believe the Klippel-Trenaunay-Weber syndrome results from a disturbance in embryogenesis, probably in the third to sixth week of gestation. The bone and soft tissue abnormalities (localized gigantism) occur in the same region as the vascular malformations. Usually only one lower limb is involved in the disease. Historically speaking, in 1900 noted French physicians Klippel and Trenaunay first described a syndrome in 2 patients presenting with a port-wine stain and varicosities of an extremity associated with hypertrophy of the affected limb's bony and soft tissue. In 1907, Parkes Weber, an English physician, unaware of Klippel and Trenaunay's report, described a patient with the three aforementioned symptoms as well as an arterio-venous malformation of the affected extremity. This syndrome affects females and males equally, shows no racial predilection and presents at birth or during early infancy or childhood. Other features that may be seen include lymphatic obstruction, spina bifida, hypospadias, polydactyly, syndactyly, oligodactyly, hyperhidrosis, hypertrichosis, paresthesia, decalcification of involved bones, chronic venous insufficiency, stasis dermatitis, poor wound healing, ulceration, thrombosis, and emboli. Arterio-venous fistulae worsen the prognosis of the disease. Cardiac hypertrophy or high-output congestive heart failure may occur later on. In our case, the patient had a definite history of a stain-like lesion on the affected limb since birth which had gradually turned darkish till it attained the present color. There was definite soft tissue and bony hypertrophy along with the abnormal arterio-venous channels, as is evident from the investigations done. Though other complications as detailed above were not present, the patient did have a hyperdynamic circulation clinically. On these bases the case was diagnosed to be that of Klippel Trenaunay Weber Syndrome. The patient has since been referred to a higher center for assessment to undergo intravascular embolisation of the abnormal vascular channels and reconstructive surgery of the limb.
Klippel Trenaunay Weber Syndrome
Based on the provided images (including X-ray, CT, and vascular ultrasound of the lower limb), as well as the patient’s clinical presentation, the following can be observed:
Taking into account a 15-year-old patient with localized hypertrophy of soft tissues and bones in the right lower limb, accompanying abnormal vascular channels and pigmentation, the following possibilities are considered:
Based on the patient’s age, symptoms (skin spots on the limb present from birth or early childhood, gradually darkening), imaging findings (soft tissue overgrowth, bony hypertrophy, widespread abnormal arteriovenous channels), and clinical hemodynamic changes, the most likely diagnosis is:
Klippel-Trenaunay-Weber Syndrome
To further clarify the vascular pathways and evaluate the risks and benefits of treatment, additional angiographic studies and multidisciplinary collaboration (interventional radiology, vascular surgery, orthopedic surgery) may be considered.
The main goals are to promote lower limb function, improve blood circulation, and prevent joint stiffness and potential muscle strength decline. Carefully consider cardiovascular load and the characteristics of the local vascular malformation, proceeding gradually.
Disclaimer: This report is for reference only and cannot replace an in-person consultation or a professional physician’s actual diagnosis and treatment recommendations. If the patient experiences any discomfort or questions, please seek medical attention promptly to obtain an individualized diagnosis and treatment plan.
Klippel Trenaunay Weber Syndrome
