Appointments

866.320.4573

Request an Appointment

Questions

800.223.2273

Contact us with Questions

Live Chat hours:  M-F 9 a.m. - 3 p.m. ET

Expand Content

Diseases & Conditions

Lissencephaly

What is Lissencephaly?

Lissencephaly, which literally means "smooth brain," is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). In the usual condition of lissencephaly, children usually have a normal sized head at birth. In children with reduced head size at birth, the condition microlissencephaly is typically diagnosed. Lissencephaly is caused by defective neuronal migration during embryonic development, the process in which nerve cells move from their place of origin to their permanent location within the cerebral cortex gray matter. 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. Lissencephaly may be associated with other diseases including isolated lissencephaly sequence, Miller-Dieker syndrome, and Walker-Warburg syndrome. Sometimes it can be difficult to distinguish between these conditions clinically so consultation with national experts is recommended to help ensure correct diagnosis and possible molecular testing.

Is there any treatment?

There is no cure for lissencephaly, but children can show progress in their development over time. Supportive care may be needed to help with comfort, feeding, and nursing needs. Seizures may be particularly problematic but anticonvulsant medications can help. Progressive hydrocephalus (an excessive accumulation of cerebrospinal fluid in the brain) is very rare, seen only in the subtype of Walker-Warburg syndrome, but may require shunting. If feeding becomes difficult, a gastrostomy tube may be considered.

What is the prognosis?

The prognosis for children with lissencephaly depends on the degree of brain malformation. Many will die before the age of 10 years. The cause of death is usually aspiration of food or fluids, respiratory disease, or severe seizures. Some will survive, but show no significant development -- usually not beyond a 3- to 5-month-old level. Others may have near-normal development and intelligence. Because of this range, it is important to seek the opinion of specialists in lissencephaly and support from family groups with connection to these specialists.

What research is being done?

The NINDS conducts and supports a wide range of studies that explore the complex systems of normal brain development, including neuronal migration. Recent studies have identified genes that are responsible for lissencephaly. The knowledge gained from these studies provides the foundation for developing treatments and preventive measures for neuronal migration disorders.

Organizations

March of Dimes Foundation

1275 Mamaroneck Avenue
White Plains, NY 10605
Phone: 914.997.4488
Toll-free: 888.MODIMES (663.4637)
Fax: 914.428.8203
Email: askus@marchofdimes.com
Website: www.marchofdimes.com

National Organization for Rare Disorders (NORD)

55 Kenosia Avenue
Danbury, CT 06813-1968
Phone: 203.744.0100
Voice Mail: 800.999.NORD (6673)
Fax: 203.798.2291
Email: orphan@rarediseases.org
Website: www.rarediseases.org

The Arc of the United States

1825 K Street, NW, Suite 1200
Washington, DC   20006
Phone: 202.534.3700
Toll-free: 800.433.5255
Fax: 202.534.3731
Email: Info@thearc.org
Website: www.thearc.org

Source: National Institutes of Health; National Institute of Neurological Disorders and Stroke

Can't find the health information you’re looking for?

This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 3/16/2012...#6033

Institutes, Departments and Centers