Aicardi Syndrome

Definition

Definition of Aicardi Syndrome
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms. Aicardi syndrome is theorized to be caused by a defect on the X chromosome as it has thus far only been observed in girls or in boys with Klinefelter's syndrome. Confirmation of this theory awaits the discovery of the gene which causes Aicardi syndrome. Symptoms typically appear before a baby reaches about 5 months of age.

Symptoms

Symptoms of Aicardi Syndrome
Symptoms usually start when the child is between ages 3 and 5 months. The condition causes jerking (infantile spasms), a type of childhood seizure.

Aicardi syndrome may occur with other brain defects.

Other symptoms may include:

1. Coloboma (cat's eye)
2. Mental retardation
3. Smaller-than-normal eyes (microphthalmia)

Causes

Causes of Aicardi Syndrome
The cause of Aicardi syndrome is unknown at this time. In some cases, experts believe it may be a result of a gene defect on the X chromosome.

Diagnosis

Diagnosis of Aicardi Syndrome
Aicardi syndrome is typically characterized by the following triad of features - however, one of the "classic" features being missing does not preclude a diagnosis of Aicardi Syndrome, if other supporting features are present.
1. Partial or complete absence of the corpus callosum in the brain (agenesis of the corpus callosum);
2. Eye abnormalities known as "lacunae" of the retina that are quite specific to this disorder; and
3. The development in infancy of seizures that are called infantile spasms.

Treatment

Treatment of Aicardi Syndrome
Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays.

Additional complications sometimes seen with Aicardi syndrome include porencephalic cysts and hydrocephalus, and gastro-intestinal problems. Treatment for prencephalic cysts and/or hydrocephalus is often via a shunt or endoscopic fenestration of the cysts, though some require no treatment. Placement of a feeding tube, fundoplication, and surgeries to correct hernias or other gastrointestinal structural problems are sometimes used to treat gastro-intestinal issues.

Prognosis

Prognosis of Aicardi Syndrome
The prognosis varies widely from case to case, depending on the severity of the symptoms. However, almost all people reported with Aicardi syndrome to date have experienced developmental delay of a significant degree, typically resulting in moderate to profound mental retardation. The age range of the individuals reported with Aicardi syndrome is from birth to the mid 40s. There is no cure for this syndrome.

Prevention

Prevention of Aicardi Syndrome
Prevention depend on the severity of symptoms.