Encephalotrigeminal angiomatosis

Encephalotrigeminal Angiomatosis is a rare neurocutaneous syndrome characterized by facial vascular birthmarks and neurological abnormalities. It is also known as Sturge-Weber Syndrome or Sturge-Weber-Dimitri Syndrome.

Etiology

The exact cause of Encephalotrigeminal Angiomatosis is unknown. However, it is believed to be due to a somatic mutation that occurs during embryonic development. This mutation is not inherited, but occurs randomly.

Clinical Features

The most common clinical feature of Encephalotrigeminal Angiomatosis is a facial port-wine stain birthmark, which is present at birth and typically involves the upper eyelid and forehead. Neurological abnormalities may include seizures, intellectual disability, and glaucoma. Other symptoms may include hemiparesis (weakness on one side of the body), hemianopsia (loss of half of the visual field), and migraine headaches.

Diagnosis

Diagnosis of Encephalotrigeminal Angiomatosis is typically based on the presence of the characteristic facial birthmark and neurological symptoms. Imaging studies such as MRI or CT scan may be used to confirm the diagnosis and assess the extent of the disease.

Treatment

Treatment of Encephalotrigeminal Angiomatosis is symptomatic and supportive. This may include management of seizures with antiepileptic drugs, treatment of glaucoma, and physical therapy for hemiparesis. In some cases, surgical intervention may be necessary.

Prognosis

The prognosis for individuals with Encephalotrigeminal Angiomatosis varies widely and depends on the severity of the neurological symptoms. Some individuals may have normal intelligence and lifespan, while others may experience severe neurological impairment and reduced lifespan.

See Also

• Neurocutaneous syndrome
• Sturge-Weber Syndrome
• Port-wine stain
• Glaucoma