What are the symptoms of encephaloceles?
Encephaloceles are usually visible, although there are exceptions. When skin-covered, they are usually covered with very sparse hair or none at all. A type of encephalocele inside the nose may present with clear liquid (cerebrospinal fluid) leaking from the nose, or meningitis due to infection of the coverings of the brain. Other encephaloceles may cause abnormal circulation of cerebrospinal fluid within the brain. In babies, this condition, known as hydrocephalus, can lead to a rapidly-enlarging head.
Usually, whatever part of the brain is protruding into the encephalocele is nonfunctional, leading to various neurologic symptoms depending on the location of the encephalocele and how much of the brain is protruding into it. In a meningoceles, there is no protruding dysfunctional brain, and neurological symptoms are not usually as bad. Other neurologic symptoms can be caused by associated brain abnormalities.
How are encephaloceles diagnosed?
Most encephaloceles and meningoceles can be diagnosed, but not differentiated from one another, upon physical examination. However, many have already been diagnosed by the time of birth using prenatal ultrasound and fetal MRI scans. Postnatal MRI scans are essential to diagnose associated brain abnormalities and to discover how much of the brain is protruding into an encephalocele.
If there is no protruding brain and the encephalocele is a meningocele, this will also be seen on MRI. CT scans are necessary to show the extent of the bony defect. Either type of scan will show hydrocephalus, when present. Sometimes, such as with encephaloceles inside the nose, a scan is necessary to discover the encephalocele.