Lissencephaly syndrome

Lissencephaly 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 head size at birth but growth falls off quickly as the brain fails to grow.

Causes

Lissencephaly is caused by defective neuronal migration, the process in which nerve cells move from their place of origin to their permanent location within the brain. The surface of the brain appears smooth rather than convoluted with gyri and sulci (folds and grooves). There are several different types of lissencephaly and each type is caused by a different gene mutation such as PAFAH1B1, DCX, and TUBA1A.

Symptoms

Symptoms of lissencephaly include microcephaly (abnormally small head), mental retardation, seizures, muscle spasticity, and failure to thrive. Other symptoms may include feeding and swallowing difficulties, muscle tone abnormalities (either too stiff or too floppy), and several different types of seizures, including infantile spasms.

Diagnosis

Diagnosis of lissencephaly is generally made through a combination of clinical examination and imaging studies, usually MRI (magnetic resonance imaging). The MRI can reveal the characteristic abnormalities of the brain structure that are indicative of lissencephaly.

Treatment

There is no cure for lissencephaly. Treatment is symptomatic and depends on the severity and locations of the brain malformations. Supportive care may be needed to help with comfort and nursing needs. Seizures may be controlled with medication and hydrocephalus may require shunting. If feeding becomes difficult, a feeding tube may be necessary.

Prognosis

The prognosis for children with lissencephaly varies depending on the degree of brain malformation. Many children with lissencephaly will not survive past childhood, although some children with less severe brain malformations may live into adulthood.

See also

• Neuronal migration disorder
• Microcephaly
• PAFAH1B1
• DCX
• TUBA1B1

NIH genetic and rare disease info

• NIH info on Lissencephaly syndrome

Lissencephaly syndrome is a rare disease.

Lissencephaly syndrome Resources
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