From the Research
Aicardi syndrome is a rare, severe neurodevelopmental disorder characterized by the triad of infantile spasms, central chorioretinal lacunae, and agenesis of the corpus callosum, primarily affecting females 1.
Key Features of Aicardi Syndrome
- The condition is almost exclusively found in females, with rare cases in males having a 47, XXY chromosome constitution.
- It is a de novo condition, with no definitive recurrence in families except in identical twins.
- Individuals with Aicardi syndrome often exhibit a variety of other neuronal migration defects, eye anomalies, and other somatic features, including skin, skeletal, and craniofacial systems.
Diagnosis and Management
- Diagnosis is based on the presence of the classic triad of agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae, as highlighted in a case report 2.
- Treatment focuses on managing symptoms, particularly seizures, which may require medications such as vigabatrin, topiramate, valproic acid, or benzodiazepines.
- Physical, occupational, and speech therapies are essential components of care, along with regular ophthalmological examinations to monitor eye abnormalities.
Prognosis
- The prognosis varies, but most individuals have severe cognitive impairment and limited life expectancy, with many not surviving beyond childhood or early adulthood.
- Early intervention with a multidisciplinary approach, including neurologists, ophthalmologists, and therapists, is crucial to maximize quality of life and manage complications, as supported by a survey of 69 children with Aicardi syndrome 3.