Encephaloceles are rare birth defects where a part of the brain protrudes through a gap in the skull, often associated with cerebrospinal fluid and covered by skin or membrane. The exact causes are unknown but involve genetic and environmental factors, with distinct clinical implications based on the location of the defect. Diagnosis typically occurs via prenatal ultrasound, and surgical intervention is usually required to repair the defect within the first few months after birth.

1. Encephaloceles

2. Encephaloceles
Encephaloceles are rare birth defects associated with
skull defects characterized by partial lacking 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.

3. Causes of encephaloceles
The exact underlying cause of an encephalocele is unknown.
Most cases occur sporadically. Most researchers believe that
multiple factors are required for the development of an
encephalocele including both genetic and environmental
factors.
Encephaloceles are more common in individuals who have a
family history of neural tube defects such as spina bifida or
anencephaly. In such cases, individuals might have a genetic
predisposition to developing a neural tube defect and may
develop an encephalocele. 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.

4. 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 i.e.
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.

5. Symptoms
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).
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6. 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 foetus. 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
(foetal MRI).

7. Treatments
Surgical intervention is usually necessary for children
with an encephalocele. Surgery is usually performed
sometime between birth and 4 months of age depending
upon the size, location and associated complications as
well as whether a layer of skin covers the encephalocele.
Surgery is done to put the protruding contents of an
encephalocele back into the skull. 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.

8. 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.
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