As a mother or father, your greatest hope is a healthy child. But sometimes, with the things we hear and see, especially when we hear about rare diseases that affect children, we feel very scared. But what is more important than being scared is to have a correct and simple understanding of those things. Today, we are going to talk about one such rare disease, but one that is worth being aware of as parents . That is Lissencephaly.
Simply put, what is Lissencephaly?
Lissencephaly is a rare condition that occurs during pregnancy , when a baby is growing in the womb, when the baby's brain develops. Normally, as a healthy baby's brain develops, it develops many folds and wrinkles on its surface. Think of it like packing a large sheet of paper into a small box. These folds are what allow the brain to do its complex work properly.
But in the case of Lissencephaly, these wrinkles do not form properly between the 9th and 12th weeks of pregnancy. As a result, the surface of the brain often takes on a smooth appearance . The word "Lissencephaly" literally means "smooth brain."
This condition does not affect all children in the same way. While some children develop at near-normal rates, others may not grow beyond the level of a 5-month-old baby. Although there is no cure for this condition, supportive care can help control symptoms and make life easier for the child. While this condition can be life-threatening for some children, some children survive into adulthood.
Are there different types of this condition?
Yes, this can be seen in two main ways.
1. Isolated Lissencephaly: Here, the child has only Lissencephaly. There is no association with any other medical condition.
2. Associated with other syndromes: Sometimes this can occur as part of another genetic syndrome.
Let's look at some of the main syndromes in the table below.
| Syndrome Name | Common features that can be seen |
|---|---|
| Miller-Dieker syndrome | Large forehead, small chin, and other facial changes. Slow growth and breathing difficulties. |
| Norman-Roberts syndrome | Farsightedness, seizures, and intellectual impairment. |
| Walker-Warburg syndrome | Severe muscle weakness and wasting. |
What are the causes of lissencephaly?
This is a very rare condition, occurring in about one in 100,000 births.
Researchers have found that the main cause of this is a defect in a few genes . But the important thing to understand here is that most of these genetic defects are not inherited from parents to children . This means that no one in the family may have had this disease before. These may be changes that occur at random in the child's genetic makeup.
Sometimes, children with this condition do not have any of the genes that have been identified so far. This means that the condition may be caused by other genetic causes that researchers have not yet identified, or by other unknown causes.
In addition, some research shows that:
- Some infections that occur in the mother during pregnancy (uterine infections).
- A baby in the womb has a stroke .
Things like that could also be causing this.
What could be the symptoms of this condition?
The severity and symptoms of lissencephaly vary greatly from child to child.
Due to impaired brain development , a major symptom that can be seen at birth or shortly thereafter is an abnormally small head (microcephaly) .
Other features include:
- Difficulty swallowing
- Muscle spasms
- Severe mental and physical challenges and developmental delays.
Some children may never be able to sit, stand, walk, or roll over. Their muscles may become weak. They may also have deformed hands, fingers, or toes.
However, there is another side to this. There are cases where some children develop normally and show very minor learning disabilities. Therefore, it is not good to assume that all children are the same.
Things you need to know about seizures
About 8 out of 10 children with this condition develop a special type of fit called infantile spasms . This is a very dangerous condition.
When this fits occurs, it doesn't look like a big, gurgling fit like we usually think of. Instead, the baby may just be fidgeting, writhing as if having a stomachache, or even seem scared . Some parents may mistake this for colic or reflux.
The important thing is that these infantile spasms are more serious than a normal fit. They can damage the brain and further stunt the child's growth. Therefore, if you notice such symptoms , it is imperative to seek medical advice immediately.
In addition, about 9 out of 10 children with lissencephaly may develop epilepsy , a condition characterized by prolonged fits, within the first year of life.
How to diagnose this disease?
Doctors mainly use brain scans to diagnose this disease.
- CT scan
- MRI scan
These scans clearly show the smooth nature of the brain's surface.
Once the diagnosis is confirmed, genetic testing is sometimes performed to try to find out what genetic defect caused it.
How is the treatment and management?
As we mentioned earlier, there is no cure for this condition. But you can control your child's symptoms, make daily life as easy as possible, and give your child a good quality of life. Doctors and parents work together to focus on these things.
- Physical therapy, occupational therapy, and speech therapy: These help strengthen the child's muscles, train them to perform daily tasks, and develop communication skills.
- Medications to control the fit:If the child is having a fit, it is essential to continue giving the medication prescribed by the doctor to control it.
- Assistive devices: The child can use wheelchairs or special chairs that allow them to sit upright.
- Feeding: Children who have difficulty swallowing may need to have a feeding tube inserted through the nose or stomach to deliver food directly to the stomach.
Difficulty breathing and swallowing, as well as uncontrollable fits, are the main life-threatening complications in children with this condition.
But as a parent, the most important thing you need to remember is that every child is different . While some children don't even live to be 10 years old, others grow well and become adults. Therefore, it is very important to see a specialist to learn more about your child's condition and the support services available.
Take-Home Message
- Lissencephaly is a very rare condition that occurs when the baby's brain does not form properly during pregnancy.
- Symptoms vary greatly from child to child. While some may have mild effects, others may experience severe physical and mental challenges.
- Be especially careful of infantile spasms , a type of fit where the baby seems to be just twitching and scared. If you see this, see a doctor immediately.
- Although there is no specific cure for this, physical therapy, medication, and other supportive care can help the child live a better life.
- Every child's journey is different, so it's essential to seek the guidance of a pediatrician for the most accurate advice for your child, rather than comparing them to others.
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