Hello,

I created this website for our 2 year old son, Andrew.

He has a rare brain condition called Lissencephaly or Smooth Brain Syndrome.

There are many different ways to say it but medically, it is Lissencephaly (Listen-cephaly).

He also has Epilepsy and suffers from

(1)Infantile Spasms.

 

Besides all that, our Andy is truly our Angel.

 

He's the happiest child we have ever had the pleasure of knowing.

Through it all he smiles, laughs and coos.

He's just truly our gift.

 

Here is the information on his rare condition.

To visit my resource sites, simply click on the provided links at the bottom of the page for foot-noted words.

 

(2)Lissencephaly:

 

Which literally means smooth brain, is a rare brain formation disorder caused by defective neuronal migration during the 12th to 24th weeks of gestation resulting in a lack of development of brain folds ((3)Gyri) and grooves ((4)Sulci).

It is a form of cephalic disorder.

Terms such as '(5)Agyria' (No Gyri) or '(6)Pachygyria' (Broad Gyri) are used to describe the appearance of the surface of the brain.

Children with Lissencephaly generally have significant developmental delays, but these vary greatly from child to child depending on the degree of brain malformation and seizure control.

Life expectancy can be shortened, generally due to respiratory problems.

Symptoms of affected children display severe psychomotor retardation, failure to thrive, seizures, and muscle spasticity or hypotonia.

Other symptoms of the disorder may include unusual facial appearance, difficulty swallowing, and anomalies of the hands, fingers, or toes.

 

(7)Diagnosis:

 

The diagnosis of Lissencephaly is usually made at birth or soon after by ultrasound, Computed Comography (CT), or Magnetic Resonance Imaging (MRI).

However, these results should be interpreted cautiously since even experienced radiologists can misdiagnose (8)Polymicrogyria, a different developmental malformation of the brain, as (2)Lissencephaly.

Before birth, complex ultrasounds performed routinely during pregnancy may indicate the presence of cerebral abnormality, but this method of diagnosis should be complemented by other methods, such as genetic studies and NMR ((9)Nuclear Magnetic Resonance), and the examination is not recommended as part of routine ultrasound examinations, unless family medical history or other reasons for suspecting brain malformation are present.

The earliest point during gestation when it is possible to observe abnormal development of the brain surface is approximately in week 20, although ultrasound examinations in week 25-30 is more common.

Up to this time, the fetal brain normally has a smooth appearance.

If Lissencephaly is suspected, chorionic villus sampling can test for some Lissencephaly variants, but only those with a known genetic mutation.

 

(10)Causes:

 

Causes of Lissencephaly can include viral infections of the uterus or the fetus during the first trimester, or insufficient blood supply to the fetal brain early in pregnancy.

There are also a number of genetic causes of Lissencephaly, including mutation of the reelin gene (on chromosome 7), as well as other genes on the X chromosome and on chromosome 17.

Genetic counseling is usually offered if there is a risk of Lissencephaly, coupled with genetic testing.

 

(11)Treatment:

 

Treatment for those with Lissencephaly 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 (12)hydrocephalus may require (13)shunting.

If feeding becomes difficult, a (14)gastrostomy tube may be considered.

 

(15)Prognosis:

 

The prognosis for children with Lissencephaly varies depending on the malformation.

Many individuals remain in a 3-5 month developmental level, while others may appear to have near normal intelligence and development.

Some children with Smooth Brain Syndrome will be able to roll over, sit, reach for objects, and smile socially.

Aspiration and respiratory disease are the most common causes of illness or death.

In the past, life expectancy was said to be around

2 years of age.

However, with advances in seizure control, and treatments for respiratory illness, most children live well beyond that age.

With other advances in therapy, and the broader availability of services and equipment, some children with Lissencephaly are able to walk with varying degrees of assistance and to perform other functions once thought too advanced.

 

Alright guys I know that was a lot to read but I hope this helped you understand a little bit more of Andy's situation and those like him.