Lissencephaly, which literally means "smooth brain," is a rare, gene-linked brain malformation characterized by the absence of normal convolutions in the cerebral cortex and an abnormally small head (microcephaly). It is caused during embryonic development by defective neuronal migration.
Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation. Hands, fingers, or toes may be deformed.
The severe malformations of the brain in lissencephaly most likely will not respond to treatment. Normal supportive care may be needed to help with comfort and nursing needs. Seizures may be controlled with medication. Progressive hydrocephalus may require shunting. If feeding becomes difficult, a gastrostomy tube may be considered.
The prognosis for children with lissencephaly depends on the degree of brain malformation. Many will die before the age of 2. Some will survive, but show no significant development beyond a 3- to 5-month-old level. Others may have near-normal development and intelligence. Children with lissencephaly often die from aspiration of food or fluids, or from respiratory disease.
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