Lissencephaly

Lissencephaly

Lissencephaly literally stands for “smooth brain” and is a rare genetic brain malformation caused during the 12th to 24th week of gestation. It is characterized by agyria in the cerebral cortex and microcephaly resulting from a defect in neuronal migration. Symptoms include psychomotor retardation, failure to thrive, seizures, and muscle spasticity accompanied by severe mental disorders.

Causes of lissencephaly can be either viral infections of the uterus or fetus during the first trimester or genetic mutations of the reelin gene or other genes on the X chromosomes and chromosome 17. These severe malformations in the brain will most likely not respond to treatments, so instead, only supportive care and symptomatic relieve such as shunting or gastrostomy can be provided.

 

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