Lissencephaly: symptoms, causes and treatment

Some babies are born with a practically smooth cerebral cortex, which causes severe symptoms.

Sometimes the alteration of the neuronal migration process causes agyria, a brain malformation that causes the cortex to have an abnormally smooth appearance, with the characteristic gyri and grooves of this region being absent. When these signs appear, the diagnosis of "lissencephaly" is used.

In this article we will describe what is lissencephaly, what are its causes and its most common symptoms, and how it can be treated or treated. and how such alterations can be treated or at least managed.

What is lissencephaly?

Lissencephaly is a group of disorders that are characterized by a smoothing of regions of the brain in which there are usually in which there are usually folds and clefts. These malformations frequently cause alterations in the development of the nervous system and therefore of cognitive and psychomotor functions.

During intrauterine development the cerebral cortex folds back on itself in many parts. This allows the volume of nervous tissue that fits inside the skull to be much greater than if the surface of the brain were completely smooth.

However, in cases of lissencephaly the grooves and folds of the brain are not formed correctly, so that the brain shows a smooth surface.The intensity of this smoothing can be very high or very low. The intensity of this smoothing can vary in each individual, depending on the causes of the alteration.

It is a very rare disorder that can have important consequences for physical and mental development. In the most severe cases intellectual functioning is very severely affected, while in others the deficits may be minimal.

Life expectancy is around 10 years.. The most frequent causes of death are asphyxia due to choking, diseases of the respiratory system, and epileptic seizures, which can be very severe.

Main symptoms and signs

The symptoms of lissencephaly depend on the severity of the malformations in the cerebral cortex, as well as the specific regions affected. The fundamental aspect is agyria, a technical term used to refer to the flat appearance of the cerebral cortex..

In many cases the head size of babies born with this disease is very small compared to that of other newborns. Although this is a very characteristic sign of lissencephaly, it is not present in all people affected by a disorder of this type. Occasionally hydrocephalus (accumulation of cerebrospinal fluid) occurs.

Alterations in the cerebral cortex cause delays and deficits in physical, psychomotor and cognitive delays and deficits in physical, psychomotor and cognitive development.. Physical malformations of the hands, fingers and toes are also common. Furthermore, muscle spasms and seizures are common.

Lissencephaly also tends to cause swallowing problems, which in turn make it difficult to ingest food and liquids. Consequently, in many cases, physical development is further impaired by nutrient deficiencies.

Causes of this alteration

The lissencephaly appears as a consequence of alterations in the formation of the cerebral cortex that take place during the gestation. The causes of these errors can be very diverse; however, the most common are related to genetic factors..

When intrauterine development progresses normally, between the twelfth and fourteenth week after fertilization the nerve cells of the embryo begin to move from the regions of the brain where they are generated to other regions. In lissencephaly this process of cell migration does not take place properly.

Scientific research reveals that this problem is usually due to mutations in multiple genes: brain development is affected by the failure of these genes to express themselves correctly. The genes involved appear to be located on chromosomes X, 7 and 17, although they are probably not the only ones.

Virus infections and decreased Blood flow to the fetus can also cause the The genes involved appear to be located on chromosomes X, 7 and 17, although they are probably not the only ones.

An association between lissencephaly and two genetic diseases has been identified: Miller-Dieker syndrome and Walker-Warburg syndrome .. It is very common for agyria to present in the broader context of one of these disorders.

Treatment

Because it is an alteration in the morphology of the brain, lissencephaly cannot be corrected per se. It is clearly not possible to reverse the development of the nervous system once it has occurred.

Because of this, treatment of lissencephaly the treatment of lissencephaly is basically symptomatic and aims to improve the quality of life of the child. and aims to improve the quality of life and enhance the functioning of affected individuals.

Thus, for example, in cases in which the swallowing difficulties are very marked, it may be necessary to apply a g-tube. it may be necessary to apply a gastric tube to the stomach of infants so that they can to enable them to feed properly.

Muscle spasms and epileptic seizures can be managed through the use of specific medications for this type of disorder. On the other hand, when hydrocephalus is present, surgical interventions are performed to drain the accumulated cerebrospinal fluid.