What is lissencephaly?
Lissencephaly is a rare birth defect which causes the brain to have little folds to the surface causing it to be abnormally smooth.
There are two types of lissencephaly:
- Type 1 – is known as isolated lissencephaly, where the brain is smooth and is the only organ that is affected. If associated with another syndrome, it can affect other organs in the body.
- Type 2 – is known as cobblestone lissencephaly when the brain forms cobblestone like bumps.
What causes lissencephaly?
There are several possible causes for lissencephaly.
Type 1 and type 2 lissencephaly can be caused by mutations in different genes. These mutations can be inherited from a parent or may occur spontaneously during foetal development.
Lissencephaly can also be caused by an infection during pregnancy, lack of oxygen to the brain when in the womb or metabolic disorders.
What are the symptoms of lissencephaly?
Symptoms of lissencephaly can include:
- Macrocephaly – when the head is unusually large.
- Microcephaly – when the head is unusually small.
Lissencephaly can be diagnosed as early as during an ultrasound, while a foetal MRI scan can detect the severity of the condition prior to giving birth.
As the child develops, there may be:
- Developmental delays – sitting, standing, walking, talking.
- Learning difficulties
- Motor and movement difficulties
- Eating problems
- Sound and vision problems
Having these symptoms can lead to complications such as lung infections, seizures and difficulties with breathing.