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An encephalocele is a rare birth defect. It occurs when a developing baby's skull does not close completely. As a result, part of the baby's brain may extend through the hole in the skull. The membrane that covers the brain, spinal cord, and the cerebrospinal fluid (CSF) may protrude as well. Skin or a thin membrane then covers the sac outside the skull. Nasal encephaloceles are very rare. Most encephaloceles are diagnosed on a routine prenatal ultrasound or seen right away when a baby is born. The swelling is usually soft, with normal overlying skin, and increases in size on crying/coughing/straining. In very few cases, small encephaloceles may initially go unnoticed and can remain undetected for years, even into adulthood. These small encephaloceles are usually located in the nasal cavity and may cause nasal obstruction.
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Most encephaloceles are diagnosed on a routine prenatal ultrasound or seen right away when a baby is born. In some cases, small encephaloceles may initially go unnoticed. These encephaloceles are usually located near the baby's nose or forehead.
Clinical Testing and Work-Up
An ultrasound exam is a routine examination in which reflected sound waves are used to create an image of the developing fetus. An encephalocele may appear as a cyst on an ultrasound examination. If an encephalocele is diagnosed prenatally, further tests may be recommended to detect whether additional anomalies are present. Such tests can include a prenatal magnetic resonance imaging (fetal MRI).
Surgical correction of the defect that develops in the skull of the newborn is the only technique to treat the condition. Large protrusions can be removed easily without any major loss in the developmental stages of the infants. 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 .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.
Minimally invasive surgery
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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