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Aicardi syndrome is a rare genetic condition that almost exclusively affects females. The main clinical feature of this condition is partial or complete absence of an important brain structure called the corpus callosum, which connects the two halves of the brain.

Further symptoms and features of the syndrome are described below:

• Infantile spasms or seizures start to develop around the age of three months, when the final neural synapses begin to close as a part of normal brain development.
• Retinal lesions that look like yellowish spots develop and are referred to as chorioretinal lacunae.
• Hydrocephalus, where cerebrospinal fluid accumulates in the brain cavities
• Porencephaly, which refers to cavities that occur in the cerebral hemisphere
• Intellectual disability and developmental delay
• Poor muscle tone in the head and trunk
• Limb spasticity
• Gastrointestinal problems

There is no cure for Aicardi syndrome and no standard treatment approach to the condition. In general, treatment is focused on managing the child’s seizures and other symptoms.

Some aspects of managing Aicardi syndrome include:

• Management of infantile spasms using antiepileptic drugs
• Early intervention programs to help the family cope with developmental delays
• Prencephalic cysts and/or hydrocephalus may be treated using a shunt to drain excess fluid.
• Affected newborns may have difficulty feeding and sometimes require a feeding tube.
• Gastrointestinal complications and hernias may be treated with surgery.

Prognosis

Although patient outcome can vary widely between individuals, most people with Aicardi syndrome experience significant developmental delay and moderate to severe mental retardation. Children and adolescents with the condition are at an increased risk of death but some individuals do survive into adulthood and even reach their mid-forties.

Further Reading

• All Aicardi Syndrome Content
• What is Aicardi Syndrome?
• Aicardi Syndrome Genetics
• Aicardi Syndrome Diagnosis

Written by

Dr. Ananya Mandal

Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.