Aicardi Syndrome: A Case Report

Camille  S. Cantalejo,; Lucy Kathrina  Banta- Banzali,

Aicardi Syndrome: A Case Report

Camille S Cantalejo | Lucy Kathrina Banta- Banzali

Abstract:

Aicardi Syndrome is an extremely rare genetic disorder characterized by infantile seizures/spasms, agenesis of the corpus callosum, chorioretinal lacunae, and learning disabilities. It is likely caused by a de novo mutation in a gene in the X chromosome. However, the gene that causes this syndrome is still not known. It is diagnosed based on clinical findings. Aicardi syndrome may present as a clinical spectrum, from mild to severe disease. In general, the younger the age at which epilepsy and learning disabilities are diagnosed, the more severe the epilepsy and learning difficulties become later in life. Hence, long-term surveillance and management are warranted. This paper presents a 6-month-old Filipino female who exhibited the classic triad of Aicardi Syndrome: profound seizure episodes; callosal agenesis and interhemispheric cysts; and chorioretinal lacunae. Several anti-epileptic drugs such as Phenobarbital, Clonazepam and Topiramate were given for the seizures. Ophthalmogic examination and retinal camera fluorescein angiogram were advised to be performed regularly as well as consistent neurodevelopmental follow-up.

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