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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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Contributors: Prab R. Tumpati, MD
