Aicardi syndrome

Major features of Aicardi syndrome include structural problems of the brain other than the missing or underdeveloped corpus callosum which is considered to be a classic feature of the condition; regions of neurons (nerves) in the brain did not move properly during development (heterotropia); cysts in the brain which can be found using a brain MRI; and problems with the optic disc or nerve.

Other symptoms that can be associated with Aicardi syndrome include structural problems of the vertebrae, small or underdeveloped eyes (microphthalmia), the left and right sides of the brain being different sizes or shapes (cerebral asymmetry), and vascular malformations that can turn into tumors.

Aicardi syndrome causes seizures in infancy called infantile spasms that may progress into recurrent seizures that are difficult to treat with medication. Children may also have yellow spots on their eyes because of lesions on their retina. Aicardi syndrome may also cause moderate to severe intellectual disabilities and developmental delays. Tumors and scoliosis may also be more common in those with Aicardi syndrome.

Symptoms of the following disorders can be similar to those of Aicardi Syndrome.

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) can be confused with Aicardi syndrome. In MCLMR, the eye abnormalities are on the edges of the retinas, in contrast to Aicardi syndrome, where the lacunae are in the central part of the retina. Additionally in MCLMR, the head size is very small (severe microcephaly) whereas in Aicardi syndrome the head size is relatively normal. Additionally, individuals with MCLMR do not typically have agenesis of the corpus callosum or other developmental brain abnormalities typical of Aicardi syndrome.

Agenesis of the corpus callosum is a rare birth defect involving a partial or complete absence of the fibers that connect the right and left sides of the brain. Sometimes intellectual disability may result, but other cases may be without symptoms and the child may have normal intelligence. The early symptoms of this disorder may be grand mal or Jacksonian epileptic seizures. These may occur during the first weeks or within the first 2 years of life. Other early symptoms may include: abnormal accumulation of cerebrospinal fluid around the brain (hydrocephalus), impairment of mental development, and/or delays in physical development.