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An encephalocele is a very rare birth defect in which nervous tissue protrudes through openings in the skull. This forms a skin-covered sac outside the skull.
Less frequently, only a thin membrane covers the sac, increasing its vulnerability.
The contents of the sac can vary, and may include:
Doctors typically can diagnose encephaloceles during a prenatal ultrasound or at birth.
The prognosis for this condition depends on the location of the sac and its contents. The outlook is most favorable when the sac does not contain any functional neural tissue.
The treatment for an encephalocele is surgery. At UPMC, the preferred surgical treatment for encephaloceles of the skull base is the Endoscopic Endonasal Approach (EEA). This innovative, minimally invasive technique uses the nose and nasal cavities as natural corridors to access hard-to-reach or previously inoperable tumors. Benefits of EEA include:
EEA has proven safe and effective in children. More than 100 children have been treated by UPMC skull base surgeons using EEA — more than at any other neurosurgery center in the world.
Ultrasound images of the fetus can reveal the presence of a herniated, fluid-filled sac outside the skull.
Encephaloceles that go undetected during gestation usually are diagnosed at birth by observation of the deformity.
Other developmental disorders usually accompany encephalocele. Once diagnosed, doctors will search for these other conditions or abnormalities, such as:
In rare cases, a small encephalocele in the nasal cavity can remain undetected for years, even into adulthood.
An MRI is the preferred test to identify the contents of the sac. This is essential for determining the best treatment for an encephalocele.
Surgery to remove the herniated sac and repair the opening in the skull is the only treatment for an encephalocele.
If the encephalocele is covered by normal skin rather than a thin membrane, surgery may be postponed until the child is older.
In most cases, any neural tissue contained in the sac is abnormal and surgeons will remove it. However, if healthy neural tissue is present in the sac, one of the goals of surgery is to preserve it.
The surgical approach depends on the location and contents of the encephalocele. If the sac does not contain vital nervous tissue, surgeons simply remove the encephalocele and repair the opening in the skull.
Encephaloceles of the skull base may be approached directly using the Endoscopic Endonasal Approach (EEA). This state-of-the-art, minimally invasive approach allows surgeons to access the tumor through the natural corridor of the nose, without making an open incision. Surgeons then remove the encephalocele through the nose and nasal cavities.
EEA offers the benefits of no incisions to heal, no disfigurement, and a faster recovery time.
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