Sturge-Weber Syndrome

Definition

Sturge-Weber angiomatosis is developmental condition characterized by proliferation of vascular tissues involving the face and the brain. The condition is non-hereditary in nature and is rarely encountered. It is a congenital condition meaning that it is present from birth. The lesions are developed due a hamartomatus growth that is believed to be caused due to persistence of a vascular plexus in intrauterine life. It is also known as Sturge-Weber syndrome and encephalotrigeminal angiomatosis.

Symptoms

The characteristic feature of Sturge-Weber syndrome is ‘port wine stains’ or ‘nevus flammeus’. It is a vascular malformation of the face exhibiting a deep shade of purple. The port wine stains are usually seen on one side (unilaterally) along the course of trigeminal nerve (Vth cranial nerve) responsible for sensory supply of the face. In few cases even bilateral involvement of the face may be seen.

Along with the facial port wine stains individuals affected with Sturge Weber syndrome also have leptomenegeal angiomas overlying the cerebral cortex.This type of angiostomatis generally lead to convulsive disorders causing seizures. The angiomas also tend to causes mental retardation in few cases. The ocular movements of affected individuals denote glaucoma and vascular disorders affecting the conjunctiva, sclera and retina.
Sturge-Weber syndrome is also associated with lesions inside the mouth. The gums and mucosa on the affected side exhibit a slight vascular proliferation or a large enlargement of vascular tissue. The lesion resembles pyogenic granuloma.

Patients with oral involvement associated with Sturge-Weber syndromes should take precautions while activities such as brushing and flossing to avoid injuries to the oral mucosa. In these patients even minor injuries at the site of lesions tend to bleed profusely. Dental treatments should also be done under careful observation and precautions to avoid bleeding.

Causes

Sturge-Weber syndrome is developmental disorder having embryogenic basis. The lesions of Sturge-Weber syndrome are believed to be caused by an insult to the precursor cells of the neural crest during embryonic life. Another suspected cause of these lesions are mutations in the precursors cells that form the vascular structure of the face. The mutations lead to overgrowth or proliferation of concerned vascular structures.
Although the cause is not known, the disease is not hereditary in nature and is not associated with a genetic defect.

Treatment

The treatment of Sturge-Weber syndrome depends on its severity and nature and location of the lesions. The facial port wine stains are also an aesthetic consideration. They can be treated by using flash lamp pulse dye lasers. In cases associated with glaucoma, opthomological evaluation is necessary and in few cases of glaucoma, surgery is the choice of treatment. Routine opthomological check-ups are advisable to the patients with Sturge Weber syndrome.

Convulsive disorders can be treated with medications such as anticonvulsive drugs. In few cases with possible complications or inability to remove the lesion using lasers, excision of the lesion can be carried out. Few meningeal lesions are also indicated for surgical excision. Patients with epilepsy associated with Sturge-Weber syndrome and other neurological problems require extensive neurosurgeries such as lobectomy or hemispherectomy.

 

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