Exencephaly

Exencephaly is a rare form of birth defect that affects the brain of the fetus. This condition is characterized by the absence of the skull (cranial vault) and the brain being exposed to the amniotic fluid in the womb. The brain tissue is often abnormally developed and is directly exposed to the amniotic fluid, which causes the brain tissue to break down. This condition is usually detected during pregnancy through an ultrasound.

Causes

The exact cause of exencephaly is unknown, but it is believed to be due to a combination of genetic and environmental factors. Some researchers believe that a disruption in the neural tube formation during the early stages of pregnancy may lead to this condition. The neural tube is a structure in a developing embryo that eventually forms the brain and spinal cord.

Symptoms

The most obvious symptom of exencephaly is the absence of the skull and exposed brain tissue. Other symptoms may include facial abnormalities, spinal defects, and other physical deformities.

Diagnosis

Exencephaly can be diagnosed during pregnancy through an ultrasound. This imaging test can reveal the absence of the skull and the presence of exposed brain tissue. Other diagnostic tests may include magnetic resonance imaging (MRI) and computed tomography (CT) scans.

Treatment

There is currently no cure for exencephaly. Treatment is supportive and focuses on managing symptoms. In some cases, if the condition is detected early in pregnancy, a therapeutic abortion may be considered.

Prognosis

The prognosis for infants with exencephaly is extremely poor. Most infants with this condition are stillborn or die shortly after birth.

See also

• Anencephaly
• Neural tube defects
• Birth defects

References

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