Signs, Symptoms, and Quality of life

There are many different signs and symptoms of Lissencephaly depending on which type you have. Some pretty common ones are:

• Agyria
• Difficulty swallowing
• Microcephaly (small brain)
• Seizures
• Mental Retardation
• Abnormalities in the hands, face, and feet
• Bradycardia (slow heartbeat)
• Failure to thrive
• Hydrocephaly (Cerebral spinal fluid on the brain)

The lifespan is not very long for people with Lissencephaly. Most don't grow beyond the capabilities of a 3 to 5 month old. The lifespan of the child depends on how severe the damage is to chromosome 17. Most children die before 2, while others can live a long, normal life. The majority of the time, the child dies from respiratory complications(1). The quality of life before death, depends on the severity of the disease.

Lissencephaly can not be diagnosised until after the pregnancy. Normally, this is done by a MRI scan of the brain. Blood tests can also be used to tell if part of chromosome 17 is missing. Once a parent has a child with Lissencephaly, they can undergo genetic counseling to see if they can pass it on to another child.

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(1)NINDS Lissencephaly Information Page. Online. Internet. 2001, September 4. Availble: http://www.ninds.nih.gov/health_and_medical/disorders/lissencephaly.htm