Encephalocele, sometimes known by the Latin name cranium bifidum, is a neural
tube defect characterized by sac-like protrusions of the brain and the
membranes that cover it through openings in the skull. These defects are caused
by failure of the neural tube to close completely during fetal development.
Encephaloceles cause a groove down the middle of the skull, or between the
forehead and nose, or on the back side of the skull. The severity of
encephalocele varies, depending on its location.
Signs and symptoms Encephaloceles are often accompanied by
craniofacial abnormalities or other brain malformations. Symptoms may
include neurologic problems, hydrocephalus, spastic quadriplegia,
microcephaly, ataxia, developmental delay, vision problems, mental and
growth retardation, and seizures. Causes
Although the exact cause is unknown, encephaloceles are caused by failure of
the neural tube to close completely during fetal development. Research has
indicated that teratogens, trypan blue, and arsenic may damage the developing
fetus and cause encephaloceles. Proper levels of folic acid have been
shown to help prevent such defects when taken before pregnancy, and early in
pregnancy. Diagnosis
Usually encephaloceles are noticeable deformities and are diagnosed
immediately after birth, but a small encephalocele in the nasal or forehead
region can go undetected. Various physical and mental developmental delays
can indicate the presence of encephaloceles.
= Classifications= Encephaloceles of the face are generally
classified as nasofrontal, nasoethmoidal, or naso-orbital, however,
there can be some overlap in the type of encephalocele. They can also appear
along any part of the cranial vault as they result from abnormal closure of
cranial bones, the most common location for enncephaloceles is the occipital
region. If the bulging portion contains only cerebrospinal fluid and the
overlaying membrane, it may be called a meningocele. If brain tissue is present,
it may be referred to as an meningoencephalocele.
Prevention It is recommended that women who may
become pregnant take 400 micrograms of folic acid daily.
Treatment A series of steps involved in
recontructive surgery of a frontal encephalocele. The same child is in all
the images. Currently, the only effective treatment
for encephaloceles is reparative surgery, generally performed during
infancy. The extent to which it can be corrected depends on the location and
size of the encephaloceles; however, large protrusions can be removed without
causing major disability. Surgery repositions the bulging area back into
the skull, removes the protrusions, and corrects the deformities, typically
relieving pressure that can delay normal brain development. Occasionally, shunts
are placed to drain excess cerebrospinal fluid from the brain.
The goals of treatment include: closure of open skin defects to prevent
infection and desiccation of brain tissue
removal of nonfunctional extracranial cerebral tissue with water-tight closure
of the dura total craniofacial reconstruction with
particular emphasis on avoiding the long-nose deformity. Without proper
management, the long-nose deformity can be more obvious after repair.
Recovery Recovery is difficult to predict prior
to surgery, and depends on the type of brain tissue involved and location of
the encephaloceles. If surgery is successful, and developmental delays
have not occurred, a patient can develop normally. Where neurologic and
developmental damage has occurred, the specialists will focus on minimizing
both mental and physical disabilities. In general, when the bulging material
consists of primarily cerebrospinal fluid, a complete recovery can occur.
When a large amount of brain tissue is present in the encephaloceles, there is
a higher chance of perioperative complication.
Epidemiology Encephaloceles occur rarely, at a rate
of one per 5,000 live births worldwide. Encephaloceles of the back of the head
are more common in Europe and North America, while encephaloceles on the
front of the head more frequently occur in Southeast Asia, Africa, Malaysia, and
Russia. Ethnic, genetic, and environmental factors, as well as
parental age, can all affect the likelihood of encephaloceles. The
condition can occur in families with a family history of spina bifida.
Notable cases The Facemakers: Operation Smile is a
documentary co-produced by the Discovery Channel and BBC 1 in conjunction with
century films aired on 21 June 2000. The Facemakers documents the remarkable
changes that occurred in the lives of three children as a result of Operation
Smile's visit to Davao City in the Philippines in 1999. One child in
particular, Abel Gastardo, had a condition too severe to be treated
during the time of the mission. Abel suffered from a rare nasofrontal facial
encephalocele, an extreme protrusion of brain tissue from the front of his
skull. The documentary follows Abel to the United States seven months later to
receive corrective surgery. He was brought over by Operation Smile to
receive the major surgery in Virginia, at the Children's Hospital of the King's
Daughters. The other facial defects within the fifty minute programme
consisted of children with facial cleft and cleft lip and palate which may be
associated with encephalocele. In November 2006, there was an hour-long
documentary on the British television network Channel 4 about Facing the
World, an organization that helps children with severe facial
disfigurements in developing countries. One of the children featured on the
documentary was Ney, a Cambodian boy who suffered from a severe form of
encephalocele, wherein part of his brain protruded through his face.
On December 4, 2012, Dr. Meara again led a cranio-facial surgical team to remove
the encephalocele of an infant, Dominic Gundrum, the son of a Wisconsin Court of
Appeals judge and his wife. The surgery also closed the baby's skull, repaired a
Tessier facial cleft, and brought the baby's facial features together.
Kim Peek. See also
Cephalic disorder Knobloch syndrome
References External links
encephaloceles at NINDS Overview at ucsf.edu
Surgical procedure done to repair an encephalocele at Children's Hospital
Boston - Webcast The chance of two lifetimes Boston Globe
A gift for an ailing Haitian boy: 2 cows Boston Globe
Monica - a case study of a young woman born with an occipital encephalocele