Lysencephaly: symptoms, causes and treatment

Sometimes the alteration in the process of neuronal migration causes actionia, a brain malformation that makes the cortex abnormally smooth, with the twists and grooves characteristic of this region absent. When these signs appear, the diagnosis of “lysencephaly” is used.

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

    What is Lysencephaly

    Lysencephaly is a set of disorders characterized by smoothing of brain regions in which there are usually folds and cracks. These malformations often cause alterations in the development of the nervous system and therefore cognitive and psychomotor functions.

    During intrauterine development, the cerebral cortex folds into itself in many parts. This allows the volume of nerve tissue that fits inside the skull to be much larger than if the surface of the brain were completely smooth.

    However, in case of lysencephaly the grooves and folds of the brain are not formed properly, So that this organ presents a homogeneous appearance. The intensity of this smoothing can vary in each individual, depending on the causes of the deterioration.

    It is a very rare disease which can have significant consequences on physical and mental development. In the most severe cases, intellectual functioning is severely affected, while in others, the deficits may be minimal.

    Life expectancy is around 10 years. The most common causes of death are asphyxiation from drowning, respiratory illnesses and seizures, which can be very serious.

    Main symptoms and signs

    Symptoms of lysencephaly depend on the severity of the malformations of the cerebral cortex, as well as the specific regions affected. The key aspect is Actia, a technical term used to refer to the flat aspect of the cerebral cortex.

    In many cases, the size of the head of babies born with this condition is very small compared to that of other newborns. Although this is a very characteristic sign of lysencephaly, it is not present in everyone with such a disorder. Hydrocephalus (accumulation of cerebrospinal fluid) sometimes occurs.

    The cause alterations of the cerebral cortex delays and deficits in physical, psychomotor and cognitive development. It is also common for physical deformities to occur in the hands, as well as in the toes and toes. In contrast, muscle spasms and convulsions are common.

    Lysencephaly also tends to cause swallowing problems, which makes it difficult to consume food and fluids. Therefore, in many cases, physical development is further impaired by nutrient deficiency.

      Causes of this alteration

      Lysencephaly occurs as a result of alterations in the formation of the cerebral cortex that occur during pregnancy. The causes of these errors can be very diverse; But, the most common are related to genetic factors.

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

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

      Viral infections and decreased blood flow receiving the fetus can also cause signs of lysencephaly by interfering with the development of the central nervous system.

      An association between lysencephaly and two genetic diseases has been identified: Miller-Dieker syndrome and Walker-Warburg syndrome. It is very common for actionia to occur within the larger context of any of these disorders.

      treatment

      Since it is an alteration in brain morphology, lysencephaly cannot be corrected on its own. Obviously, it is not possible to go back in the development of the nervous system once it has happened.

      Because of that the treatment of lysencephaly is mainly symptomatic and aims to improve the quality of life and improve functioning of those affected.

      Thus, for example, in cases where swallowing difficulties are very marked it may be necessary to put a gastric tube on babies’ stomachs so that they can eat properly.

      Muscle spasms and seizures can be managed using specific medications for this type of disorder. In contrast, with hydrocephalus, surgeries are performed to drain the accumulated cerebrospinal fluid.

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