Lissencephaly – What it is, Symptoms, Causes and Treatments of this condition. In addition, Lissencephaly is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). In the usual condition of Lissencephaly , children usually have a normal-sized head at birth.
In children with reduced head size at birth, the condition of micro- Lissencephaly is typically diagnosed. The disease is caused by faulty neuronal migration during embryonic development, the process in which nerve cells move from their place of origin to their permanent location within the gray matter of the cerebral cortex .
Causes: Research reveals that there are several possible causes of Lissencephaly .
Lissencephaly can be caused by damage to the fetus during its development, such as from a viral infection or blood failure in the brain . Another cause could be a genetic mutation. The researchers identified two genes associated with Lissencephaly . One of them is on chromosome 17, called LIS1. The other is on the X chromosome, called XLIS or Doublecortin. Whether Lissencephaly can be inherited remains unclear.
Symptoms: The following signs and symptoms may appear:
- Failure to prosper;
- Difficulty swallowing;
- Unusual facial appearance;
- Hypotonia or muscle spasticity;
- Severe psychomotor retardation;
- Abnormalities of the fingers, hands or toes;
- Spasticity or stiffness in the arms and legs.
Diagnoses: If there is a family history in either parent, they may go for an ultrasound at about 20 weeks of pregnancy to check whether the fetus has Lissencephaly or not.
Also, for the confirmed diagnosis of Lissencephaly , the attending physician after observation of symptoms may recommend advanced brain imaging in the form of CT or MRI scans to look for areas where folding has not occurred in the brain and confirms the diagnosis and grade Da severity of Lissencephaly . Most children suffer from Grade III, which is the mild form of Lissencephaly .
Treatments: Treatment is directed towards the specific symptoms that are evident in each individual. Treatment for Lissencephaly may require the coordinated efforts of a team of specialists. Pediatricians, neurologists and other healthcare professionals may need to systematically and comprehensively plan the treatment of an affected child.
Therapies for individuals with Lissencephaly are symptomatic and supportive. Treatment for Lissencephaly may include measures to improve nutrient intake in infants with feeding difficulties; The administration of anticonvulsant drugs to help prevent, reduce or control seizures; And/or other measures. Genetic counseling will also be beneficial for families of affected children .