Cerebral Dysgenesis


Cerebral dysgenesis is abnormal brain development, also known as brain malformation, which differs from the other three causes of cerebral palsy which involve brain injury. Brain malformation is the result of:

  • a brain that did not fully develop
  • a brain that grew abnormally
  • a brain that experienced incomplete division
  • a brain that developed with incomplete organization

Billions of cells, and various types of cells, continuously form and move to distinct locations during brain development; skull development is occurring, as well.

Any event that interrupts brain development can result in malformed or missing areas of the brain. This can result in loss of brain function. Brain malformation can vary in severity; defects of greater severity lead to one, or a combination of, conditions such as epilepsy, cerebral palsy, intellectual impairment, and sensory impairment.

When Does Cerebral Dysgenesis Occur?

The brain begins developing almost immediately after conception. A damaging event can occur at any time during fetal development to cause brain malformation. While the first 20 weeks of gestation are especially critical, any insult to the brain can have serious repercussions.

What Are the Risk Factors of Cerebral Dysgenesis?

Incidents of genetic mutations, infections, fever, and trauma all increase the likelihood of developing cerebral dysgenesis, but presence of one or more of these risk factors does not mean a child will develop the disorder; it merely identifies cause for concern.

Genetic mutations in the early stages of brain development can multiply, as one “damaged” cell can replicate many times over.

Infection is known to be a serious contributing risk factor. One of the body’s methods for fighting off infection is to produce cytokines – which will ultimately pass through the blood and nervous system of the fetus. Cytokines may increase the developing brain’s susceptibility to asphyxia and also cause inflammation, which can damage the nervous system.

Certain infections are known as risk factors for development of cerebral dysgenesis and other brain impairments. These include:

  • Cytomegalovirus
  • Rubella (German measles)
  • Herpes simplex virus
  • Syphilis
  • Toxoplasmosis
  • Varicella (chicken pox virus)

Fever during pregnancy can also instigate a potentially damaging inflammatory response. Various types of traumas can interrupt proper brain development.

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How is Cerebral Dysgenesis Diagnosed?

Primarily, neuroimaging techniques such as cranial ultrasound, CT scans, and MRIs are used after birth to view the condition of the brain. Recent research has led to the discovery of certain genes that may contribute to the causal pathways. Therefore, genetic testing and chromosome analysis may be beneficial.

The degree of impairment varies. After birth, certain signs may lead doctors to suspect cerebral dysgenesis, including:

  • Childhood seizures
  • Decreased muscle tone (hypotonia)
  • Delayed crawling milestones
  • Delayed developmental milestones
  • Delayed walking milestones
  • Failure to thrive
  • Increased or decreased head size
  • Low APGAR score
  • Mental deficiency
  • Poor head control
  • Poor trunk control
  • Psychomotor cognitive impairment
  • Roving eye movements

How is Cerebral Dysgenesis Treated?

Treatment for cerebral dysgenesis focuses on managing symptoms the child experiences, as cerebral palsy cannot be cured. Treatment protocols involve various physical and occupational therapies dependent on symptoms and severity of symptoms.

Early intervention is regarded as a valuable service, especially as the brain continues to develop after birth. It may be possible for the brain to essentially forge new pathways and reduce the severity of impairments.

How is Cerebral Dysgenesis Prevented?

Since cerebral dysgenesis is the result of brain malformation, the likelihood of developing the condition may be reduced by minimizing potential risk factors.