What is Microcephaly – Definition, Signs, Symptoms and Risk Factors

What is microcephaly

An abnormally small head size may explain slight delays in cognitive development and motor function. So, exactly what is microcephaly?

Microcephaly is a pathology that refers to the alteration in the normal development and growth of the head. It is a congenital disease and individuals with this condition have a cranial perimeter inferior to the standard measurements. It is a rare pathology that occurs in fetuses and newborns and it has a rarity of 1 per 1000 individuals.

The Development of Microcephaly

Under physiological conditions, the brain gradually grows by exerting pressure on other structures. Therefore, it obtains the necessary environment for its development. However, if the brain suddenly stops developing during pregnancy or initially after birth, the expanding of the brain does not occur.

The patients suffering from microcephaly will have a smaller head size. Microcephaly may appear along with other serious congenital defects or in isolation. Usually, it associates with a delayed or mental disability of the baby in terms of learning or cognitive development. However, there have been clinical cases in which the patient has a normal intelligence. Those cases are not very common.

Risk Factor’s

what is microcephaly

We can differentiate different risk factors with microcephaly:

  • Chromosomal alterations. Trisomies stand out, such as down syndrome and deletions, such as cri du chat syndrome. In both cases, these are pathologies that are usually related to other malformations in the baby’s body.
  • Infections contracted during pregnancy. We can mainly point out rubella, syphilis, toxoplasmosis, and cytomegalovirus. It is believed that the Zika virus could also significantly increase the risk of developing microcephaly.
  • Consumption of tobacco, alcohol or drugs during pregnancy
  • Consumption of chemical substances and radiation during pregnancy
  • Malnutrition of the fetus and diabetes without adequate medical treatment
  • Cranioencephalic trauma while the skull is developing
  • Craniosynostosis. This term encompasses the early closure of cranial sutures

Signs and symptoms of microcephaly

Apart from the reduced cranial diameter, we can point out other common manifestations of microcephaly:

  • Problems with speech, learning, motor function and balance maintenance.
  • Convulsions
  • Hearing loss. It consists in the reduction of hearing. In the most extreme cases, it can even reach total deafness.
  • Problems with the eyes. In the same way, as in the case of the sense of hearing, the individual may lose sight of the vision completely.
  • Alterations in food. It may be related to difficulties swallowing correctly (dysphagia).

Read Also: What Causes Eye Twitching?

Diagnosing Microcephaly

what is microcephaly - diagnosis

We can differentiate two types of diagnosis:

Prenatal diagnosis

This is done during pregnancy by using ultrasound techniques. It can be two or three-dimensional ultrasound. These images allow diagnosis after the second trimester. Keep in mind that 3D ultrasound can be harmful to the fetus if it is the test is performed in the first trimester.

Postnatal diagnosis

In this case, the diagnosis is carried out approximately 24 hours after the birth in order to do precise measurements. The bones of the skull are molded during the delivery to facilitate its journey to the outside.

The perimeter of the baby’s head is measured and compared with the standard measurements according to their sex and age. If the measurements are normal and there is suspicion of microcephaly, other diagnostic tests come in handy. For instance, magnetic resonance imaging (MRI) or computed tomography (CAT).

Treatment of microcephaly

There is no type of cure for microcephaly. Despite this, the medical team will offer the most appropriate options to help the baby with its symptoms.

When it comes to mild microcephaly, babies usually do not present major problems in terms of cognitive and motor development. In general, they only have a head size lower than the average. This will not affect the rest of their abilities. Mild microcephaly only requires a series of routine checks in order to control the growth of this part of the body.

On the contrary, if the individual presents with severe microcephaly, the symptoms mentioned appear more frequently and these are more serious. It is usually accompanied by a pharmacological treatment to prevent seizures. In addition, patients make a medical follow-up in specialized teams to try that their cognitive development is the best possible.


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