Microcephaly - Definition, Pictures, Life expectancy and Prognosis


What is Microcephaly?

Definition : Microcephaly basically means a neurological condition that involves brain size, which is smaller than normal. This is a rare condition that may be due to underdevelopment experienced when one was still a fetus or after birth. This condition has a variety of causes and that includes genetics and probable environmental factors.
difference between normal head size, baby with microcephaly, baby with severe microcephaly disease pictures
picture 1: Difference between normal head size, baby with microcephaly, baby with severe microcephaly.
image source: www.cdc.gov

One can identify for the condition to be present when a person or the child has a smaller head size compared to his age group. This can be measured with taking the child’s head circumference and compare it to the normal or the ideal size it should be.

There are times where a child has a small head size, but we can identify that a child is suffering from microcephaly when the head size is significantly smaller than usual, about below the first percentile. Because of such presentation, the child shall suffer from:
  1. Mental retardation or mental delay
  2. Visual impairment
  3. Facial distortions
  4. Seizure tendencies
  5. Motor function disabilities and delayed functions
  6. Speech may be delayed
  7. Dwarfism
  8. Neurological problems

1 a. Primary Microcephaly

Primary microcephaly or the autosomal recessive microcephaly is predisposed by the genetic composition. This condition basically developed from the mutations that one has acquired from the family. The parents of the affected will have to carry one of the mutated genes in order to pass it down to their child.

This one mutated gene shall not affect the parents, but the sole victim of such mutation is the child who inherited both the genes. It has been reported that about 1 of 30,000 newborns are affected of the condition. According to reports, this condition is quite prevalent in Pakistan as it provides 1 out of 10,000 newborns of prevalence rate.

1 b. Congenital Microcephaly

Microcephaly may be present at birth or shall slowly progress to such as one age. This is identified as congenital when there have been intrauterine infections involved. When an expecting mother had contracted the rubella virus, cytomegalovirus or toxoplasmosis then it shall precipitate the development of microcephaly to the child.

Microcephaly Causes

The condition microcephaly is basically caused by the underdevelopment or abnormal development of the brain. This may develop when the child is not yet born or usually after birth. The following are the causes of such condition
  1. Chromosomal abnormality. This condition or state shall predispose the child to develop microcephaly. Those with an extra chromosome such as Down syndrome have the tendency to develop microcephaly.
  2. Craniosynostosis. This is the premature fusing of the sutures of an infant’s skull that keeps the brain from growing in size. This premature fusing would cause for the brain to have less area to grow. A surgical intervention can be done in order to avoid severity of the state.
  3. Cerebral anoxia. This is the decreased oxygenation of the brain of the fetus. Oxygen is very essential in the body especially the developing fetus. Once the fetus does not receive the adequate oxygen it needs, growth and development shall not be attained accordingly.
  4. Infections acquired by the expecting mother. This is highly teratogenic to the child’s part. Teratogenic means harmful to the fetus that it can interfere with the development and provide defects to the child. The infections would include toxoplasmosis, rubella and chickenpox. Cytomegalovirus is also included in the list. Taking of illicit drugs is also teratogenic to the fetus. Toxic agents are greatly causative of such condition.
  5. Malnutrition. A mother who has not taken care of her health during the time she was carrying her child could cause microcephaly.
  6. Genetics. This is basically the cause of primary microcephaly. It has been noted that the child can inherit these abnormal genes from his or her parents.

Microcephaly Diagnosis

When a mother complies with her prenatal checkups, the development of microcephaly may be identified. Taking the mother’s familial history can help us or assist us in the diagnosis of the condition.

The mother’s drug abuse, if any, should be assessed in order to attain the true root of the child’s condition. If all of this was not done and that the child has developed the condition, performing a physical examination by measuring the child’s head circumference will help in the diagnosis. This should be monitored accordingly, so to record the progress of the condition.

two sisters affected with severly affected microcephaly disease picture
picture 2: Two sisters affected with severly affected microcephaly disease.
Image source: i.ytimg.com
In order to determine the presence of the condition, the child must undergo a head CT scan or MRI test.

Microcephaly Treatment

The condition has no known treatment. The only aim of the treatment is to assist the child who has developed such condition. Therapies such as for speech are introduced. While physical and occupational therapy are also presented in order to assist the child to at least attain what is normal. When the child is suffering from seizures, these are treated with anti-seizure medications.

Counseling is necessary to the parents of the child. This is to assist them in the process of making it easier to cope with the state of their child. Joining core groups that are also experiencing such difficulty in life can help them by voicing out their concerns and feelings of their current condition.
Microcephaly Prognosis

As it is expected that the child shall receive disability, but this is still identified as mild. There is still hope that others attain the normalcy in life such as attaining normal intelligence and the basic milestones in life. With the assistance of the therapies above, one can attain good health and better prognosis.

Microcephaly Life Expectancy

The life expectancy of microcephaly is noted as low. This will also depend on the severity of the condition. This has been noted as a general fact that those who have this condition shall have reduced mortality rate but is again supported with the presenting symptoms that one possess.