Aicardi Syndrome
Aicardi Syndrome is a rare genetic disorder in which the structure that connects the two sides of the brain (corpus callosum) is partly or completely missing.
So far no known cause of Aicardi syndrome. Some think that in some cases, is the result of a genetic defect on chromosome X. This disorder affects only girls and there are fewer than 500 cases worldwide.
Symptoms begin when the child is between three and five months of age. The condition causes infantile spasms (jerking), a type of childhood seizure. Other symptoms include mental retardation and lesions on the retina of the eye or the optic nerve.
Aicardi syndrome may be associated with other brain defects.
Other symptoms may include:
* Abnormal ribs or spine
* Eyes smaller than normal (microphthalmia)
* Other eye abnormalities such as coloboma (cat’s eye)
* Large differences in the size of the two halves of the brain
Children are diagnosed with Aicardi Syndrome if they meet the following criteria:
* Female sex (or XXY genotype male)
* Retinal damage
* Seizures typically beginning as infantile spasms
* Complete or partial absence of corpus callosum
However, in rare cases, you may not have one of the characteristics, especially lack of development of the corpus callosum. In such cases, the diagnosis is likely if you have two or more of the signs mentioned below:
* Abnormal formations in the brain, as microgyria (the brain are abnormally narrow)
* Subcortical and periventricular heterotopia (a misplacement of groups of neurons in the brain sometimes found in seizure disorders)
* Cysts in specific brain areas
* Non-cancerous benign tumor found in a specific part of the brain
* Optical disc or nerve coloboma
Tests to diagnose Aicardi Syndrome include:
* Eye Exam
* TAC head
* MRI
* EEG
You can perform other procedures and tests, depending on each individual.
There is no standard treatment for Aicardi syndrome. Treatment involves managing seizures and any other health problems, as well as programs to assist the family and the child cope with delays in development.
Support Groups
Aicardi Syndrome Foundation: www.aicardisyndrome.org.
National Organization for Rare Disorders (NORD): www.rarediseases.org
Expectations (Prognosis)
The prognosis varies greatly depending on the severity of symptoms and what other conditions are present. Almost all children with this syndrome have severe learning difficulties and completely dependent on others, but few have some language abilities and some can walk independently or with assistance. The degree or level of vision varies from normal to blind.
Complications
Complications vary with the extent and severity of symptoms.
Situations requiring medical assistance
Call your doctor if a child has symptoms of Aicardi syndrome or seek emergency medical attention if an infant is having spasms or seizure.
Source: www.clinicadam.com/salud/5/001664.html
image source: www.eyeatlas.com/box/286aicardi.jpg