Causes and risk factors
Causes of lissencephaly include genetic mutation, viral infection to the mother during the first trimester of pregnancy, reduced blood supply to the fetal brain during development.
Clinical presentation
Patient presents with feeding difficulties. Intellectual disability is seen. There is failure to thrive. There is reduced muscle tone. Unusual facial appearance, small head (microcephaly) is seen. Delayed milestones are seen. Malformed toes and fingers can be present. Seizures can occur.
Investigations
Medical history by the patient and clinical examination by the doctor helps in diagnosis. Ultrasound examination is done. CT scan, MRI scan of brain is required.
Treatment
There is no cure for lissencephaly. Treatment for lissencephaly is supportive and symptomatic. It may include anti-convulsion medication to control seizure. Shunting in case there is hydrocephalus. Gastrostomy will be considered if there is problem with feeding.
Complications
Complications such as aspiration and respiratory infection may occur.
When to Contact a Doctor
Since the condition can be diagnosed soon after birth, doctor will take necessary measures.
Prevention
There is no sure way to prevent lissencephaly. Genetic counseling and testing should be recommended to couple who are trying to conceive and have a risk of disease.
Systems involved
Central nervous system
Organs involved
Brain
