In order to utilize the individual's eyesight and investigate the need for visual aids, examination by ophthalmologist is indicated early in life.
[3] At three to six months of age, the child begins to have epileptic seizures, often of the infantile spasm type caused by changes in the brain's gray matter, the cerebral cortex.
[3] A number of tumors have been reported in association with Aicardi syndrome: choroid plexus papilloma (the most common), medulloblastoma, gastric hyperplastic polyps, rectal polyps, soft palate benign teratoma, hepatoblastoma, parapharyngeal embryonal cell cancer, limb angiosarcoma and scalp lipoma.
[3] The mutation leads to a characteristic malformation of the brain stem with a complete absence of the corpus callosum.
[6] Other types of defects of the brain such as microcephaly, polymicrogyria, porencephalic cysts and enlarged cerebral ventricles due to hydrocephalus are also common in Aicardi syndrome.
[citation needed] Suspicion of infantile spasms or other epileptic seizures during the first months of life should always be urgently investigated.
[3] In Aicardi syndrome, MRI of the brain shows that the cerebral cortex is completely or partially missing.
[3] Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays.
[citation needed]Additional comorbidities and complications sometimes seen with Aicardi syndrome include porencephalic cysts and hydrocephalus, and gastro-intestinal problems.
Placement of a feeding tube, fundoplication, and surgeries to correct hernias or other gastrointestinal structural problems are sometimes used to treat gastro-intestinal issues.
[citation needed] Children with Aicardi syndrome come into contact with many different specialists in healthcare early on.
Since the cause of the epileptic seizures is found in many different places in the brain, however, epilepsy surgery is rarely an option in Aicardi syndrome.
It involves a carefully calculated diet that is rich in fat, contains a minimum of carbohydrates and provides the daily need for protein.
The excess of fat forms starvation bodies (ketones) which can be used instead of glucose as a fuel source for the metabolism in the brain.
If there is difficulty eating, nutrition may need to be received via a nasal tube or a so-called button (PEG, percutaneous endoscopic gastrostomy), an operatively created connection to the stomach via the abdominal wall.
A habilitation team includes professional categories with special knowledge of disabilities and their effects on everyday life, health and development.
They consist, among other things, of investigation, treatment, testing of assistive devices, information about the disability and conversational support.
[3] A close collaboration takes place with the municipality, which can offer various forms of interventions to facilitate the family's everyday life.
[3] Adults with Aicardi syndrome need continued habilitation efforts and support in daily life.
However, almost all people reported with Aicardi syndrome to date have experienced developmental delay of a significant degree, typically resulting in mild to moderate to profound intellectual disability.
[7] Worldwide prevalence of Aicardi syndrome is estimated at several thousand, with approximately 900 cases reported in the United States.
[3] This disorder was first recognized as a distinct syndrome in 1965 by Jean Aicardi, a French pediatric neurologist and epileptologist.