Long-term management by a pediatric neurologist with expertise in the management of infantile spasms is recommended. Aicardi syndrome is
a rare genetic disorder that primarily affects newborn girls
. The condition is sporadic, meaning it is not known to pass from parent to child.
How is Aicardi syndrome inherited?
Aicardi syndrome is classified as an
X-linked dominant
condition. While the gene associated with this disorder is not known, it is believed to be located on the X chromosome. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder.
How long do kids with Aicardi syndrome live?
The life span of girls with Aicardi syndrome usually averages
between 8 and 18 years
, but several women with milder symptoms have lived into their 30’s and 40’s. Very severe cases may not live beyond infancy.
Is Aicardi syndrome detectable prior to birth?
The diagnosis can be suspected by
prenatal ultrasound
with color Doppler identifying the agenesis of the corpus callosum. Usually, the diagnosis is confirmed in the neonate period by transfontanellar ultrasound and ophthalmological examination.
What are the symptoms of Aicardi syndrome?
- a coloboma, which is a hole or gap in one of the structures of the eye.
- abnormally small eyes.
- an unusually small head.
- hand deformities.
- intellectual disabilities.
- developmental delays.
- difficulty eating.
- diarrhea.
What does Aicardi cause?
People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum ). They have
seizures beginning in infancy
(infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat.
Is Aicardi-Goutieres syndrome terminal?
What are the symptoms of Aicardi-Goutieres Syndrome? Symptoms of Aicardi-Goutieres Syndrome usually appear within the first six months of life. Aicardi-Goutieres
Syndrome is generally either fatal
, or else it results in a persistent vegetative state in early childhood.
Did Einstein have a corpus callosum?
Albert Einstein had a colossal corpus callosum
. … Stretching nearly the full length of the brain from behind the forehead to the nape of the neck, the corpus callosum is the dense network of neural fibers that make brain regions with very different functions work together.
Can you live a normal life without a corpus callosum?
While
not essential for survival
, a missing or damaged corpus callosum can cause a range of developmental problems. It’s thought that one in 3,000 people have agenesis of the corpus callosum—a congenital disorder that sees a complete or partial absence of the conduit.
Can the corpus callosum be repaired?
When the corpus callosum does not develop in a child (agenesis) or develops abnormally (dysgenesis),
it cannot be repaired or replaced
– but doctors are researching ways to improve the lives of those affected by the disorders.
Can a person be born without a corpus callosum?
Agenesis of corpus callosum (ACC) is a rare disorder that is present at birth (congenital). It is characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres.
Can you have an XXY chromosome?
Klinefelter syndrome
is a genetic condition in which a boy is born with an extra X chromosome. Instead of the typical XY chromosomes in men, they have XXY, so this condition is sometimes called XXY syndrome.
When was Aicardi syndrome discovered?
In
1965
, a French neurologist, Dr Jean Dennis Aicardi, described 8 children with infantile spasm
Why do babies get infantile spasms?
Infantile spasms (also called West syndrome) can be caused by
brain malformations, infections, brain injury, or abnormal blood vessels in the brain
. IS also can happen in babies with certain metabolic and genetic disorders. In rare cases, a baby’s infantile spasms are caused by vitamin B6 deficiency.
What is West syndrome?
West syndrome is a constellation of symptoms characterized by
epileptic/infantile spasms
, abnormal brain wave patterns called hypsarrhythmia and intellectual disability.
