One of a number of structural brain conditions known collectively as cephalic disorders, colpocephaly presents with impairment of intellect and microcephaly, along with a range of other symptoms.

Main features and symptoms

Colpocephaly is a brain abnormality, which arises when the white matter which lies within the posterior cerebrum fails to thicken or develop. This leads to the occipital horns (within the posterior section of the lateral brain ventricles) becoming enlarged.

Infants affected can suffer from some or all of the following symptoms:

  1. microcephaly
  2. impaired intellect
  3. seizures
  4. muscle spams
  5. movement disorders

Cause and diagnosis

The exact cause of colpocephaly has not clearly been identified but researchers believe that the condition arises in utero between the 2nd and 6th months and is due to some kind of fetal disturbance.

What is known is that condition is congenital, and in some cases can be identified in late pregnancy. The differential diagnosis is hydrocephalus and in some cases it may be misdiagnosed as such. Where a misdiagnosis has occurred, or no diagnosis has been made, the condition is relatively easy to identify after birth because of the other symptoms, which present (as described above).

Treatment and outcome

At present there is no universal treatment regime for colpocephaly and the outcome is variable depending on the associated complications and the degree of brain abnormalities, or lack of development.

Seizures may be treated with anticonvulsant medication while contracture or muscle shrinkage can be minimised with the use of orthoses and physical therapies.

Some children who have colpocephaly require special education.

Ongoing research

Research is ongoing into colpocephaly by various major neurological institutions in both the US and globally, with much emphasis being put towards the understanding and prevention of the brain abnormalities developing in utero.

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