Microcephaly – characteristics, causes and symptoms of microcephaly

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Microcephaly, also known as microcephaly, is a neurodevelopmental disorder. Microcephaly occurs in 1 in 1000 babies born and is characterized by pathologically small skull dimensions and low brain mass. What are the causes of microcephaly and how is it manifested? How is microcephaly diagnosed in the prenatal period and after the birth of a child?

What is microcephaly – characteristics of ailments

Microcephaly or microcephaly is a developmental defect characterized by unnaturally small dimensions of the skull. Microcephaly is generally a birth defect. There are several classifications of microcephaly, the most common of which are:

1. primary microcephaly – is the result of a stoppage in the proper development of the brain in the early stages of pregnancy, i.e. around the 32nd week of fetal life. Primary microcephaly may be associated with a reduced number of neurons that arise during neuronogenesis;
2. secondary microcephaly – appears after 32 weeks of fetal life and is associated with reduced dendritic activity of neurons with a preserved number of them. Environmental factors play a very important role in the development of microcephaly;
3. isolated microcephaly – this is a type of nonspecific disorder;
4. syndromic microcephaly – coexists with dysmorphic features and birth defects that may affect other organs.

Microcephaly – causes of occurrence

When describing the causes of microcephaly, one should focus on two categories or conditions for the occurrence of the disease. The causes of microcephaly may be genetically determined and may be completely unrelated to genetic determinants.

Genetically determined causes of microcephaly:

1. trisomie, or Down syndrome, Edwards syndrome;
2. deletion syndromes, i.e. cat scream syndrome;
3. microdeletion syndromes, e.g. Williams syndrome;
4. Chromosome instability syndromes, such as Bloom’s syndrome;
5. monogenic diseases;
6. conditions that are multi-factorial, e.g. schizencephaly.

Non-genetically determined microcephaly causes:

1. taking medications or other chemicals during pregnancy, such as alcohol or cigarettes;
2. maternal conditions, e.g. diabetes, phenylketonuria;
3. intrauterine infections, e.g., congenital toxoplasmosis, rubella, herpes simplex virus;
4. perinatal injuries, cerebral ischemia or cerebral hypoxia.

Microcephaly – symptoms

The most visible and obvious symptom of microcephaly is the small head size. In addition to a non-standardly small head, there are also other disorders that distinguish microcephaly from other diseases. Many children with microcephaly have cognitive impairment and other neurological problems. The child may have difficulty learning, learning and absorbing new content. In some cases, there are motor problems and even loss of motor functions. People with microcephaly are very often characterized by short stature, i.e. dwarfism. Often there are craniofacial deformities, convulsions or problems with maintaining balance.

Diagnostics and diagnosis of microcephaly

A baby’s microcephaly can be diagnosed during pregnancy by ultrasound, preferably vaginally. Examination of the fetus for microcephaly is performed in the third trimester of pregnancy. In children, for diagnostic purposes, imaging tests, such as skull X-ray, computed tomography or magnetic resonance imaging of the head, are also performed.

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