Microcephaly

Microcephaly is a condition characterized by the smaller than average sized head of an infant which can either be evident at the birth or can develop during the first few years of a child’s life. This condition can occur as the result of the brain not developing properly in the womb or has stopped to grow after the birth. Microcephaly can either occur as an isolated condition or can develop along with the combination of associated birth defects. This disorder is often associated with mental retardation although around 15% of the affected cases present normal intelligence.

Causes

Microcephaly is often congenital meaning it is evident at the birth of the infant. It can develop as the result of a number of cases and some forms are associated with severe developmental delay and the risk of seizures. Some forms can develop as the result of a defective gene or are related to certain exposures during pregnancy. Some of the pregnancy exposures that causes microcephaly include severe malnutrition, interruption of the blood supply to the infant’s brain in the womb, exposure to harmful substances such as certain drugs or alcohol and infections during pregnancy such as rubella or cytomegalovirus. Hundreds of genes are associated with microcephaly and the mutation affects the normal development of the brain. Some of the associated genetic conditions include Down syndrome and certain neurometabolic disorders. The causes of microcephaly during infancy include traumatic brain injury, infection in the brain and lack of oxygen to the brain.

Symptoms

The initial indication of microcephaly is the significantly smaller than normal head size. Infants with microcephaly can present a range of problems such as seizures, hearing loss, vision problems, feeding problems, difficulty with movement and balance, developmental delays such as the problem with sitting, standing or walking and intellectual disability. They can exhibit additional medical problems such as facial deformities, joint deformities and very short stature. These problems can either be mild or severe which are often life-long. In some cases, the mildly affected cases can continue to develop normally.

Diagnosis

During pregnancy, this condition can be detected with an ultrasound test during late 2nd trimester or early in the third trimester. After the birth of the infant, the physical examination will be done along with the measurement of the head circumference of the infant which is compared to the population standards by sex and age. If microcephaly is confirmed, additional diagnostic tests may be done to determine the cause which can include an MRI scan to evaluate the structure of the infant’s brain.

Treatment

This is a life-long condition with no cure. The mild form of this condition usually does not require any medical treatment although their growth and development will be regularly monitored. The treatment for the severe case depends on the underlying cause. Developmental services can help the affected babies improve their intellectual disabilities.

References

https://www.cdc.gov/ncbddd/birthdefects/microcephaly.html

http://www.mayoclinic.org/diseases-conditions/microcephaly/basics/symptoms/con-20034823

http://www.who.int/mediacentre/factsheets/microcephaly/en/

http://www.childrenshospital.org/conditions-and-treatments/conditions/microcephaly/symptoms-and-causes

https://my.clevelandclinic.org/health/articles/microcephaly