Klippel-Trenaunay Syndrome

Klippel - Trenaunay

Klippel-Trenaunay syndrome (also known as Klippel syndrome, Klippel nevus, or distal stump syndrome) is a rare genetic disorder that is characterized by the presence of a nevus (tumor) in the knee or foot area and abnormalities in other parts of the body. It is named after the German neurologist Hermann Heiner Klippel and the French physician Theodore Henri de Trenot. Often described as a non-cancerous tumor, although it is composed of hypertrophied blood vessels.

Clinical manifestations

One of the symptoms of Klippel–Trenonnais syndrome is the presence of a vascular tumor in the knee area (small hemorrhagic nevus) and other abnormality. These tumors can be larger than other tumors and produce numerous abnormalities that can affect the limbs, joints and organs. These include deformation, dysfunction, enlargement, shortening or deformation of the spine, growth retardation, difference in leg length or disproportion. In addition, it causes physical abnormalities: changes in the joints (arthrosis, ankylosis

Klippel-Trenaunay - a syndrome that is characterized by a simultaneous enlargement of the nerves and blood vessels of the affected limb. This disease causes a variety of limb abnormalities, including hypertension, growth retardation, thinning of the skin, bone separation, increased bleeding, pain, and limited mobility.

Klippel syndrome was first described by the French physician Honore Kinsely-Klippel in the late 19th century. Following this, the French doctor Maurice Trenan described his clinical picture of the syndrome. Both scientists sought to understand the connection between damage to blood vessels and nerves in bones. They also observed synergy between the two symptoms, meaning that both disorders occurred simultaneously.

However, the disease can occur in different ways: some people suffer only from neuroporesis, while others also have congenital diseases of the limbs. This feature of the syndrome has led to the appearance of different names for the disease: van Stuben syndrome and neuro-osteogenic syndrome. Klippel Trenon syndrome varies in severity, from mild to severe forms.

Symptoms of Klippel syndrome can appear from the first days after birth. Children with this disease may suffer from stunted growth, poor nutrition, low blood pressure and hemorrhages. At an older age, more serious symptoms appear, such as increased local pain, tumors and abnormalities in bone growth. Limbs may be thick and deformed, and fingers may protrude from these changes. Deformities of the legs and toes are common and may become longer, crooked and weak.

One of the main ways to treat Klippel syndrome is pharmacotherapy, which allows you to control the symptoms of the disease. Medicines used for treatment include corticosteroids, local anesthetics and anticonvulsants. Antibiotics and other medications may also be used to control infections that may occur with some types of infection.

If the disease develops before the child reaches adulthood, the chances of successful recovery are often low. A more effective method is surgery, which involves removing protruding tissue and removing blood connections. In some cases, limb amputation may be required.