Question

All children with Aicardi syndrome have defects in their retinas that look like white craters (chorioretinal lacunae), but only some of the 4,000 recognized cases also have absence of the corpus callosum (the band of nerve fibers that joins the halves of the brain). what is the disease

Answer 1

Aicardi syndrome was first reported by Jean Aicardi and hence the name. This is a neurodevelopmental disorder.

The symptoms include infantile spasms, where the babies exhibit seizures. They can also include white craters and the absence of corpus callosum.

The disorder is very rare and is associated with a gene present on X-chromosome. Hence it is X-linked. Females have two copies of the X-chromosome while males have just one copy. Thus, the disease is more prevalent in male babies.

The gene involved in this syndrome is TEAD1 which is involved in the Hippo pathway signaling. Thus, it affects the growth and development of nervous tissues.