Lissencephaly Syndrome Type 1
Lissencephaly Syndrome Type 1 Causes
Lissencephaly syndrome type 1 may stem from a number of causes. One such cause is a viral infection of the uterus during the first trimester of pregnancy. Another identified cause is insufficient blood supply to the fetal brain. A range of genetic factors have also been associated with lissencephaly, such as mutation of the reelin gene in chromosome 7, plus other genes on the chromosome 17 and the X chromosome.
Lissencephaly Syndrome Type 1 Definition
Literally meaning ?smooth brain?, lissencephaly is a rare brain abnormality characterized by a lack of normal convolutions (or folds) in the brain. In lissencephaly syndrome type 1, the cerebral cortex is not normally developed, and the gyri are malformed.
Lissencephaly Syndrome Type 1 Diagnosis
Diagnosis can be made at birth or soon after. To confirm the diagnosis, ultrasound, CT scan, or MRI can be done to obtain images of the afflicted brain. If a risk of lissencephaly is present, genetic counseling is often recommended. To detect lissencephaly during pregnancy, genetic testing can be done.
Lissencephaly Syndrome Type 1 Symptoms and Signs
In children with lissencephaly, the gyri or convulsions are absent from the brain, thus making its surface appear smooth. Afflicted individuals may have unusual facial structure, swallowing difficulties, failure to thrive, and acute psychomotor retardation. Hands, fingers, and toes may appear abnormal. Patients may also experience seizures and muscle spasms.
Lissencephaly Syndrome Type 1 Treatment
Lissencephaly treatment is focused on managing symptom, depending on the location and severity the malformations. Often, supportive healthcare is required to provide comfort and meet nursing needs. Seizures of afflicted individuals can be managed through medication, but the hydrocephalus may need to be shunted. If the patient experiences nutritional problems due to difficulty in feeding, a gastronomy tube may be recommended.