ENCEPHALOFACIAL ANGIOMATOSIS

Overview and Facts

Encephalofacial angiomatosis is a skin and nervous system disorder. It is apparent at birth and promotes excessive vascular system development, resulting in angiomas. A port-wine mark on the skin may result from these angiomas. They may also develop in the brain, causing convulsions and other symptoms. Elevated intraocular pressure, developmental issues, and weakening on one side of the frame are possible problems. Nevertheless, many persons with this disorder may live a good life with the right therapy.

A port-wine mark affects around 3 out of every 1,000 infants. Only approximately 6% of newborns with the marking (about one in every twenty) also suffer neurological problems.

Types and Symptoms

SYMPTOMS

A nevus flammeus stain, or red and stained skin on the portion of the face, is the most visible sign of encephalofacial angiomatosis. Distended arteries in the front cause the skin to look inflamed, which causes discoloration.

Irregular vessels in some youngsters may not create any indications. They may also induce the following signs and symptoms in certain people:

  • Developmental issues
  • Seizures
  • Hypothyroidism
  • Facial birthmark
  • Migraines or headaches
  • Glaucoma 

Diagnosis & Medications

DIAGNOSIS

A medical practitioner evaluating the port-wine birthmark is often the initial step in identifying encephalofacial angiomatosis. Infants born with this abnormality may be subjected to examinations to see whether they have any brain or ocular problems. These tests may include:

  • MRI scan of the brain with and without contrast
  • CT scan of the brain 
  • Electroencephalogram (EEG)
  • Comprehensive eye exam that includes pressure measures

TREATMENT

Treatment for encephalofacial angiomatosis differs based on your particular indications. Laser treatments on the skin, for instance, may lessen or eradicate the pink birthmark. Furthermore, the birthmarks left by port wine are irreversible. They don’t go away if you don’t treat them.

Seizures are one of the symptoms for this condition, and treatments include:

  • Anti-seizure drugs
  • A focal resection therapy for any seizure that happens in just one portion of the brain, generally the occipital area
  • Hemispherectomy for the entire hemisphere that is faulty and causes seizures

Other options for treating this disorder involve:

  • Muscle-strengthening physical treatment
  • Eye examinations to detect glaucoma
  • Special education in the event of developmental problems or intellectual disability

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