Lissencephaly, which literally means “smooth brain,” is a rare, gene-linked brain malformation characterized by the absence of normal folds in the cerebral cortex and an abnormally small head.
Symptoms of Lissencephaly
Symptoms of the disorder may include:
- Unusual facial appearance
- Difficulty swallowing
- Failure to thrive
- Muscle spasms
- Severe psychomotor retardation
- In addition: hands, fingers, or toes may be deformed.
Lissencephaly may be associated with other diseases including isolated lissencephaly sequence, Miller-Dieker syndrome, and Walker-Warburg syndrome.
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 (an excessive accumulation of cerebrospinal fluid in the brain) may require shunting. If feeding becomes difficult, a gastrostomy tube may be considered.
Where Can I Get More Information?
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
E-mail [email protected]
Life with Lissencephaly