by andywalsh | April 25, 2019 10:11 pm
It is defined as a disorder in which there is a formation of smooth brain. It is a rare disorder which is caused due to the problem in migration of the neuron. It occurs from 12 to 24 th week of gestation period. In this there is an absence of the development of brain folds. It includes the gyri and sulci. This is a form of cephalic disorder. There are terms such as agyria or pachygyria which refers to the absence of gyri and broad gyri respectively. They give an idea about the appearance of surface of brain. The children with lissen cephaly are very much neurological impaired. They die commonly few months after the birth.
It includes the multiple problems such as a severe psycho motor retardation, failure to live and seizures. There is spasticity of the muscles which is also known as a hypo tonia. The other symptoms includes the not so normal appearance of the face which is also accompanied by problem in swallowing followed by anomalies in the hands, finger and toes etc.
It includes the symptomatic treatment only. It relies on the severity and location of brain mal formation. There is a requirement of the supportive care and is done along with the comfort and needs of nursing. The medicines are used to control the seizures. Shunting is required in the case of hydro cephalus. One can go for a gastrostomy when the feeding becomes a big problem.
It includes the more and well defined spectrum of this disorder. It is done with the help of neuro imaging and genetics. They give a good idea about the migration disorders. There are different types of the lissen cephaly. They have the ability to make up a spectrum. There are other unknown causes of this disorder which are not known till date. There are different systems which can classify this disorder. It varies from the class one to four. It is referred as the classic as well as cobble stone. There are few systems that add the extra forms which cannot fit into any category.
In the classic type of this disorder or type one observes a LIS 1 in which there is a mutation of the gene. It is divided into the miller dieker syndrome and type 1 isolated syndrome. There is another sub type which is referred as the LISX 1. It also occurs due to the gene mutation by double cortin. There is a type 1 isolated form in which other forms is absent. The type 2 is known as a cobble stone in which there is a fuku yama syndrome. There is a muscle eye brain disease which is known as the MEB. One also observes a Walker Warburg syndrome which is also known as the HARD syndrome. The other types include the LIS 2, LIS 3 and LIS X2. It also includes the micro form of this disorder.
It includes the use of ultra sound or CT scan. One can also go for a magnetic resonance imaging referred as MRI. It is manly done at the birth or soon after the birth. It is done in the case of lissen cephaly. There are complex ultra sounds which must be done before the birth. It must be done during the period of pregnancy and must be tell us about the presence of abnormalities in the brain. This is not a reliable method. As there is no cerebral pathology it can lead to the cautious phenomena.
The diagnosis with the help of ultra sound is not fully reliable. It becomes reliable after 26 to 28 weeks as the normal sulci becomes properly defined. Up till this time the brain has a normal and smooth appearance. If one suspects this condition one can go for a chorion villus sampling which occurs with the help of variation in lissen cephaly. It occurs with a known genetic variation.
It is not constant and it depends on the amount of brain mal formation. There are few individuals which do not show any significant development when they are 3 to 5 month old. A few of them have near development of intelligence and other normal features. Some children are able to live till teen age due to the use of medicines and proper care. The most common cause of the death is respiratory problems.
It includes the viral infections, present in the uterus. They may also occur in the fetus. It occurs during the first trimester. It occurs when the blood supply is not much which can lead to the damage to fetal brain. It occurs in early pregnancy. There are other few causes of the lissen cephaly which are mainly genetic in the nature. It includes the mutation of gene which is present on the chromosome 7 and includes the reeling gene. There are other genes also which are present on the chromosome X. along with the chromosome 17. If there is a risk of lissen cephaly one can go for the genetic counseling. It must be done along with the genetic testing.
Source URL: https://alldiseases.org/agyria/
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