Encephalocele

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. Encephaloceles may also be known as cranium bifidum.

Overview

Symptoms

If not treated, encephaloceles cause serious symptoms and problems, including:

  • Developmental delays 
  • Hydrocephalus (excessive accumulation of cerebrospinal fluid in the ventricles of the brain)
  • An abnormally small head (microcephaly)
  • Paralysis
  • Vision problems

Diagnosis

Doctors can diagnose encephaloceles before birth with ultrasound images. If an encephalocele is not detected during pregnancy, doctors usually diagnose it at birth. In rare cases, a small encephalocele in the nasal cavity can remain undetected for years, even into adulthood.

If your child has an encephalocele, doctors will order an MRI, and possibly a CT, to determine its contents and the surrounding anatomy. 

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Treatment Options

Dr. Amin Kassam, vice president for Neurosciences at Aurora Health Care, explains the Expanded Endonasal Approach, a minimally invasive surgery technique.

Encephalocele treatment includes removing the tumor or herniated sac and repairing the skull opening. Depending on the size and covering of the encephalocele, surgery may be postponed until the child is older. Surgery also depends on the location and contents of the sac.

Encephalocele of the skull base can be removed using the Expanded Endonasal Approach (EEA). Aurora neurosurgeons use this innovative, minimally invasive approach to reach and remove encephaloceles through the nose and nasal cavities.

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