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November 7, 2013Lissencephaly, 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
- Seizures
- 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.
Lissencephaly Treatment?
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?
March of Dimes Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: 914-428-7100 888-MODIMES (663-4637)
Fax: 914-428-8203
E-mail askus@marchofdimes.com
Website: www.marchofdimes.com
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)
Fax: 203-798-2291
E-mail orphan@rarediseases.org
Website: www.rarediseases.org
The Arc of the United States
1010 Wayne Avenue
Suite 650
Silver Spring, MD 20910
Tel: 301-565-3842
Fax: 301-565-3843 or -5342
E-mail Info@thearc.org
Website: www.thearc.org
Lissencephaly Blog
Life with Lissencephaly
http://lifewithliss.com