Lissencephaly – What It Is, Causes, Symptoms and Treatments In this article, you will get all your doubts about this disease. In addition, Lissencephaly is a group of genetically determined abnormalities of brain development , characterized by partial or total underdevelopment turns and grooves of the cerebral cortex, as well as a violation of its ultrastructure. The severity and symptom combinations of this condition vary for different forms of the disease, the most common attacks, profound mental retardation, swallowing disorders and muscle hypotonia .
Diagnostic lissencephaly can be made by means of ultrasound (including prenatal) and computer techniques and magnetic resonance tomography, for the most common forms it is possible to determine by molecular genetic analysis. No specific treatment exists, use symptomatic and supportive therapy.
What is lissencephaly?
Miller-Dieker syndrome, also called lisencephaly or chromosome 17p13.3 deletion syndrome, is an autosomal dominant genetic disorder characterized by the absence of circumvolutions (gyres) and fissures (grooves) in the cerebral cortex. giving the brain a smooth look.
This disorder results from minute deletions in certain regions of chromosome 17 encompassing the LIS1 gene. Most cases (about 80%) are sporadic, due to microdeletions in gametes, female or male, thus generating an affected individual. In the minority of cases, about 20%, the condition is due to one of the parents carrying a balanced translocation involving chromosome 17.
ALSO READ ↓↓:
- Apraxia – What It Is, Causes, Symptoms and Treatments
- Placenta Previa – What It Is, Causes, Symptoms and Treatments
- Giardiasis – What It Is, Causes, Symptoms and Treatments
- Wernicke’s Aphasia – What It Is, Causes, Symptoms and Treatments
- Ganglion Cyst – Causes, Symptoms and Treatments
Causes of Lissencephaly:
The Lissencephaly can be caused by injury to the fetus during its development, such as a viral infection or blood insufficiency in the brain . Another cause may be a genetic mutation. The researchers identified two associated genes. One is on chromosome 17, called LIS1. The other is on the X chromosome, called XLIS or Doublecortin. Whether Lissencephaly can be inherited is unclear.
Symptoms of Lissencephaly:
Unusual facial appearance
Hypotonia or muscle spasticity ;
Severe psychomotor retardation;
Anomalies of the fingers, hands or toes;
Spasticity or stiffness of the arms and legs.
Diagnosis of Lissencephaly:
Lisencephaly can be diagnosed during or shortly after birth. The diagnosis can be confirmed by ultrasound, computed tomography (CT) or magnetic resonance imaging. Lissencephaly can be caused by infections intrauterine viral (the uterus) , or infections virus to the fetus during the first trimester, little blood supply to the brain baby in the early stages of pregnancy or due to a genetic disease.
There are two different genetic causes of lissencephaly : one associated with the X chromosome and one associated with the chromosome 17. Knowledge about lisencephaly is now more evident as neurological imaging and genetics have provided more information about disorders occurring during the cell migration.
It is also likely due to other causes that have not yet been identified. The lissencephaly may be associated with other diseases including isolated sequence of lissencephaly , Miller-Dieker syndrome and Walker-Warburg syndrome.
Treatment of Lissencephaly:
Treatment for patients suffering from lissencephaly is symptomatic and depends on the severity and location of brain malformations . Assistance support could be needed to provide patients with greater convenience or to provide nursing services. Seizures can be controlled with medication and hydrocephalus may require shunt.
If feeding becomes difficult, a gastrostomy tube (feeding tube) may be considered. The prognosis for boys with lisencephaly varies depending on the degree of brain malformation .
Many patients show no significant development beyond the age of 3 to 5 months. Others may have almost normal development and intelligence. Many die before 2 years old. Breathing problems are the most common causes of death.