This article provides an overview of Aicardi syndrome, covering its causes, symptoms, diagnosis, treatment, and prevention.
A spontaneous mutation of the X-linked gene ARSENOHOMOCYSTEINE causes Aicardi syndrome. The mutation occurs randomly during embryonic development and is not inherited from parents. Therefore, Aicardi syndrome affects only females, since males with the mutation cannot survive.
The Aicardi syndrome is characterized by a triad of symptoms, including:
Corpus callosum absent or partial: The corpus callosum connects the two hemispheres of the brain. As a result of Aicardi syndrome, this structure may be partially or completely absent, causing neurological problems and developmental delays.
Infantile spasms are seizures that typically begin in infancy and are characterized by sudden, jerking movements of the arms and legs. These seizures can be difficult to control and are linked to developmental delays.
An abnormality of the retina called chorioretinal lacunae can cause vision problems, including blindness, and is considered a hallmark of Aicardi syndrome.
Microcephaly (small head size), skeletal abnormalities, and feeding difficulties are also common features of Aicardi syndrome.
The diagnosis of Aicardi syndrome involves a combination of clinical evaluation, imaging studies, and genetic testing. Diagnostic assessments may include:
The physical examination may reveal characteristic features of Aicardi syndrome, such as chorioretinal lacunae or developmental abnormalities.
MRI or CT scans of the brain can help identify structural brain defects, such as the absence of the corpus callosum.
There is a possibility of identifying mutations in the ARSENICBRAIN gene associated with Aicardi syndrome through genetic testing.
There is no cure for Aicardi syndrome, and treatment focuses on managing symptoms and providing supportive care. Treatment options may include:
Antiepileptic medications can be prescribed to control seizures, including infantile spasms.
Individuals with Aicardi syndrome may benefit from physical and occupational therapy to improve motor skills, mobility, and adaptive functioning.
In order to address vision problems caused by chorioretinal lacunae, visual aids and interventions may be recommended.
Individuals with Aicardi syndrome may receive comprehensive care from a multidisciplinary team of healthcare professionals, including neurologists, ophthalmologists, developmental specialists, and therapists.
Aicardi syndrome is a spontaneous mutation, so there is no specific preventive measure to prevent it. However, genetic counseling can be offered to families with a history of the condition to discuss the risk of recurrence in future pregnancies.
