Title: Encephalocele: Symptoms, causes, diagnosis and treatment.

Encephaloceles - An encephalocele is a cranial meningocele. These occur most often in the

occipital area of the skull but may occur as a nasal or nasopharyngeal disorder. Encephaloceles
generally are covered fully by skin, although they may be open or covered only by the dura. It is
difficult to tell from the size of the encephalocele if only CSF is trapped in the protruding
meninges or whether brain tissue could also be involved. Transillumination of the sac will reveal
whether brain tissue is in the sac. A CT, MRI or ultrasound will reveal the size of the skull
disorder and help predict the extent of surgery, which will be needed.

It is a rare birth defect associated with skull defects characterized by partial lack of bone fusion
leaving a gap through which a portion of the brain sticks out (protrudes).

-In some cases, cerebrospinal fluid or the membranes that cover the brain (meninges) may also
protrude through this gap. The portion of the brain that sticks outside the skull is usually covered
by skin or a thin membrane so that the defect resembles a small sac.

-Protruding tissue may be located on any part of the head, but most often affects the back of the
skull (occipital area).

-Most encephaloceles are large and significant birth defects that are diagnosed before birth.
However, in extremely rare cases, some encephaloceles may be small and go unnoticed.

Etiology

The majority of encephaloceles are congenital. Some cases are acquired secondary to tumors,
trauma, or iatrogenic injury. One of the most accepted theories for the origin of a congenital
encephalocele is the incomplete separation of the surface ectoderm from the neuroectoderm after
the closure of the neural folds. The cranial neuropore usually closes on day 25 of embryogenesis.
A problem before this day will produce an incomplete closure with a defect not covered by skin.

Genetic and environmental factors have been implicated in the development of an encephalocele.
TORCH infections (toxoplasma, rubella, cytomegalovirus, herpes simplex virus) have been
involved in many cases. Consanguineous marriages and previous NTD pregnancies have also
been implicated. More than 30 different syndromes have been associated with an encephalocele,
including Meckel-Gruber syndrome, Walker-Warburg syndrome, Fraser syndrome, Knobloch
syndrome, Roberts syndrome, morning glory syndrome, and amniotic band syndrome. The
relationship between maternal use of folate and the incidence of encephalocele is still not clear.
A person who is genetically predisposed to certain disorders may carry a gene (or genes) for the
disease, which may not necessarily be expressed unless it is triggered or “activated” under
certain circumstances, such as the exposure to particular environmental factors. No specific
environmental factors have been confirmed as contributing to the development of an
encephalocele. Researchers speculate that certain toxins or infections may be involved.

Symptoms

-The symptoms of an encephalocele can vary from one individual to another depending upon
many different factors including size, location and the amount and kind of brain tissue protruding
from the skull.

-Encephaloceles are congenital malformations present at birth.

-The location of the encephaloceles is very important since there are distinct clinical implications
for treatment and prognosis for anterior and posterior encephaloceles. -Posterior encephaloceles
are more often associated with neurological problems.

-Encephaloceles toward the front of the skull usually do not contain brain tissue and generally
have a better prognosis.

Symptoms that can develop include

-Delays in reaching developmental milestones, intellectual disability, learning disabilities,

growth delays, seizures, vision impairment, uncoordinated voluntary movements (ataxia), and
hydrocephalus, a condition in which excess cerebrospinal fluid in the skull causes pressure on
the brain.

-Hydrocephalus can result in a variety of symptoms. Some affected individuals develop

microcephaly, a condition that indicates that head circumference is smaller than would be
expected for an infant’s age and sex. Also in some cases, affected individuals experience
progressive weakness and loss of strength in the arms and legs due to increased muscle tone and
stiffness (spastic paraplegia)

Diagnosis of encephaloceles

-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. 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).
Treatments Surgical intervention

Surgery is done to put the protruding contents of an encephalocele back into the skull. Repair of
the encephalocele is not an emergency, and only those with skin ulceration or CSF leaks need
rapid surgery to avoid meningitis. Surgery can be performed as early as two months of age but is
usually delayed until about four months to several years due to the small total blood volume of
infants. The surgical goals are the closure of the skull defect with a watertight dural closure and
the bony defect reconstruction.

- The neurosurgeon will cut and remove a portion of the skull (craniotomy), allowing access to
the brain. Then, a neurosurgeon will cut through the dura mater, the tough outer covering of the
brain. Then the Treatments Next, the neurosurgeon will relocate any herniated portion of the
brain, meninges and fluid back into the skull and will remove the surrounding sac. Afterward, the
dura mater is closed and the skull is repaired either by replacing the piece of the skull that was
initially removed or using an artificial replacement.

-Surgical correction of an encephalocele can be achieved without causing any further functional
disability, even in cases of large encephaloceles.

Reference: -https://www.slideshare.net/Lazoithelife/encephaloceles

https://ncbi.nlm.nih.gov/books/NBK562168/
What is an encephalocele?

● An encephalocele is a rare birth defect in which the tissue covering the brain, and a
portion of the brain itself, protrude through openings in the skull. It may be accompanied
by other craniofacial defects.
● Encephaloceles can occur anywhere in the skull — involving the top, back, or sides of
the head or the forehead, nose, and eye area. Their severity varies, depending on their
size, location, and what parts of head and face are involved.
● The exact cause of encephalocele is unknown. It is a type of neural tube defect, meaning
that the neural tube — a narrow channel that should close during early gestation to form
the brain and spinal cord — does not close properly.

What are the symptoms of an encephalocele?

● Doctors can see an encephalocele as soon as your baby is born. Sometimes a small
encephalocele in the nose and forehead region can go undetected until properly
 diagnosed. Encephaloceles are often accompanied by craniofacial abnormalities or other
brain malformations.

Symptoms of encephalocele that your child may face include:

● neurologic problems
● hydrocephalus: cerebrospinal fluid accumulated in the brain
● spastic quadriplegia: paralysis of the limbs
● microcephaly: an abnormally small head
● ataxia: uncoordinated muscle movement
● developmental delay
● vision problems
● mental and growth retardation
● seizures

What causes an encephalocele?

● An encephalocele forms when the neural tube does not close properly during gestation.
A neural tube is a narrow channel that folds and closes to form the brain and spinal cord.
The exact cause, however, is unknown. It usually occurs among families with a history of
spina bifida and anencephaly.
● Women who are or plan to become pregnant should consume a healthy diet with good
sources of vitamin B (folic acid). During pregnancy, an increase in vitamin B may reduce
the number of babies born with neural tube defects.

Diagnosis & Treatments

How is an encephalocele diagnosed?

● Usually encephaloceles are visible deformities and are diagnosed immediately after birth.
Occasionally, a small encephalocele in the nasal or forehead region can go undetected.
● Sometimes encephaloceles are detected during a routine prenatal ultrasound, at as early
as 13 weeks’ gestation. If an encephalocele is suspected on an ultrasound, a fetal MRI
can provide all the detail necessary to confirm the diagnosis.
How are encephaloceles treated?

● An encephalocele can be treated surgically, ideally during infancy when the skull is still
very flexible. The operation involves removing any non functioning brain tissue and
cerebrospinal fluid, moving functional brain tissue carefully back into the skull, and
relieving any fluid pressure in the head.
● The location and size of the encephalocele will determine how much of the defect our
surgeons can safely correct. Usually, large protrusions can be removed safely. A
complete recovery is most likely when the bulging material consists of primarily
cerebrospinal fluid. When a large amount of brain tissue is present in the encephalocele,
there is a higher chance of complications during surgery.

During surgery, our doctors will:

● Remove the bulging area of tissue, or, if it is living brain tissue, gently ease it back into
the skull. This may involve making cuts in the skull bone to make more space.
● Drain excess fluid to relieve pressure inside the skull that can delay normal brain
development. Occasionally, shunts (narrow pieces of tubing) are placed to drain excess
cerebrospinal fluid from the brain.

The goals of treatment for encephalocele include:

● closing open skin defects to prevent infection and dryness of brain tissue
● removing nonfunctional cerebral tissue outside the brain
● doing a total craniofacial reconstruction
● focusing on minimizing both mental and physical disabilities where neurologic and
developmental damage has occurred.

reference: https://www.childrenshospital.org/conditions/encephaloceles#related