Encephaloceles: Symptoms, causes, diagnosis and treatment (1)

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Encephaloceles
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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.

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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.

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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.

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Symptoms
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• 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 infants 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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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).

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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.

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Treatments
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• 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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