Macrocephaly: causes, symptoms and treatment

A disorder in which the head becomes too large in relation to the size of the thorax.

The maturational development of the brain is a complex and delicate process. Although humans are born with a very large head in relation to the body (especially when compared to other animals), throughout the first decades of our lives our nervous system will still need to grow and develop. our nervous system will still have to grow and develop to grow and develop in order for us to reach a healthy adulthood.

However, during this process there are many things that could go wrong and, although they are rare, if they appear, they greatly influence our life. Macrocephaly is an example of this..

What is macrocephaly?

Macrocephaly is a Biological disorder in which the circumference of the head is larger than expected for the sex and age of a child. of a child. In other words, macrocephaly is identified by taking measurements of the circumference of the skull and checking whether the cranial vault is larger than normal in healthy individuals. Macrocephaly is therefore included in the category of cranial growth disorders, to which microcephaly also belongs.

In addition, it is considered that a correct study of each case of macrocephaly does not depend only on a single measurement, but it is necessary to follow up to see how the size of the head evolves in relation to the size of the head in relation to the size of the child's head in relation to the size of the child's head. the size of the head in relation to the rest of the body and if the situation is worsening. and if the situation is worsening over time.

This is because this proportion changes very rapidly during the first months of life and, in fact, between birth and 6 years of age, the size of the body below the neck increases at a very fast rate.

On the other hand, the concept of macrocephaly is not in itself a disorder but a term used to superficially describe an alteration.

How often does it occur?

There are currently no statistics on the prevalence of macrocephaly that have been extracted from related research, but it is estimated to be a rare malformation present in less than 5% of people with macrocephaly..

However, as always in these cases, it is possible that certain poorly studied populations are more prone to suffer this type of complications during the first months of life, perhaps due to genetic issues or contamination. After all, during pregnancy one is very sensitive to external factors, and small alterations can, in some cases, favor the appearance of diseases in the fetus, favor the appearance of diseases in the fetus..

In addition, it is believed that macrocephaly is more frequent in males and that it usually appears during gestation or in the first months of life. most cases are examples of infantile macrocephaly..

Causes

Macrocephaly can be produced by a great variety of alterations. Many times it is hereditary in originwhile in others it is produced by injuries or complications during pregnancy or childbirth.

For example, many of the cases of macrocephaly are due to a condition known as hydrocephalusin which more cerebrospinal fluid (a substance that surrounds the brain and spinal cord) is produced than can fit inside the skull. This causes the walls of the skull to be more "dilated" than normal in the first months of life to accommodate so much fluid, since the head is much less hard at this stage of life than in adulthood.

Macrocephaly may also be due to abnormal growth of the skull bones or the brain, which is compressed against the meninges.which is compressed against the meninges and through it presses against the bones of the cranial vault.

In addition, there are other disorders in which macrocephaly may also occur, such as neurofibromatosissuch as neurofibromatosis, bone growth disorders, intracranial bleeding, Hurler syndrome or dwarfism.

Types of macrocephaly

There is a rough classification that serves to distinguish between different types of macrocephaly according to their causes. However, it should be noted that even within each type there are different variants that will depend on each individual case, such as the area where the skull bulges the most or the most damaged areas of the brain.

In any case, the types of macrocephaly are as follows:

Primary macrocephaly.

This type of macrocephaly is characterized as being caused by an increase in the volume and size of the skull. caused by an increase in the volume and weight of the brain.. For example, it occurs due to an abnormal multiplication of stem cells. It has genetic causes and is also known as macroencephaly.

Secondary macrocephaly

In this type of macrocephaly, the enlargement of the skull is due to biological processes that are not biological processes that are not due to an enlargement of the brain itself, but of other related substances that occupy the skull.but of other related substances occupying the head space. For example, hydrocephalus produces this variant.

Macrocephaly due to bone malformation

Some cases of macrocephaly are explained by abnormal bone development. For example, they may be due to early closure of the cranial sutures, resulting in a bulging caused by abnormal development of the nervous system due to the chain reaction of not having room to expand at a given time.

Diagnosis and associated symptoms

In many cases macrocephaly can be detected during the gestational stage through the use of ultrasound through the use of ultrasound scans. However, in non-congenital macrocephaly it may appear somewhat later, with the manifestation of certain disorders, and is diagnosed in pediatric consultations..

Macrocephaly can present a wide variety of associated symptoms, depending on its causes and the intensity of this alteration. Among them the following stand out:

• Cognitive alterations
• Vomiting
• Seizures
• General developmental delay
• Headaches
• Endocranial hypertension
• Irritability

Some of these these symptoms may subside with the passage of time and depending on the intervention and depending on the intervention performed, although they may also become more intense, depending on the case.

Prognosis

The way in which macrocephaly and its associated symptoms develop depends on the type of alteration that is producing this phenomenon.

In some cases, such as those involving hydrocephalus, the person's life may be in danger if it is not treated. the person's life can be in danger if a surgical intervention is not performed (which will consist of draining the excess cerebrospinal fluid). In others, neither the child's life nor his or her cognitive abilities will be compromised. In fact, the cases in which macrocephaly is not associated with the onset of mental retardation are very frequent..

Treatment

There is no specific treatment aimed at eliminating macrocephaly.. However, there are those that aim to intervene on the symptoms associated with the disorder that is producing this alteration.

Many of them are pharmacological and psychiatric, while others are psychological and focus on the cognitive stimulation of the child.

Bibliographical references:

• Adams, H.H.; Hibar, D.P.; Chouraki, V.; Stein, J.L.; Nyquist, P.A.; Rentería, M.E.; Trompet, S.; Arias-Vasquez, A. et al. Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nature Neuroscience, 19(12): pp. 1569 - 1582.
• Portellano, J. A. (2005). Introduction to neuropsychology. Madrid: McGraw Hill.
• Williams, C,A.; Dagli, A.; Battaglia, A. (2008). Genetic disorders associated with macrocephaly. American Journal of Medical Genetics, 146A(16): pp. 2023 - 2037.