Aicardi Syndrome: Case Series

Aicardi syndrome is a rare genetic disorder that primarily affects females and is marked by three main clinical features: agenesis of the corpus callosum, chorioretinal lacunae, and seizures. The absence or abnormal development of the corpus callosum impairs communication between the brain's hemispheres, resulting in various neurological issues. Seizures, commonly appearing as infantile spasms, are frequent and can vary in severity and frequency. Aicardi syndrome is usually diagnosed in infancy through clinical evaluation and imaging studies. Effective care and management of Aicardi syndrome require a multidisciplinary approach. Case presentation: A 2-month-old girl was brought to our hospital after experiencing multiple episodes of generalized spasticity characterized by hyperflexion of the upper and lower extremities toward the trunk (tonic seizures) and rapid jerking movements of the eyes. Additionally, she showed signs of delayed psychomotor development. A 29-day-old girl was admitted for evaluation of abnormal movements. She was born following a normal pregnancy and delivery, with Apgar scores of 6 at 1 minute and 8 at 5 minutes. Her mother, who is 36 years old, has a history of parental consanguinity and is gravida 4, para 4, with three living children and one deceased child. A female baby born by elective cesarean section at 36 weeks of gestation began to show symptoms, including stiffening of the arms and legs and hyperextension of the neck, with a frequency of 12-20 episodes per day. Key words: Aicard syndrome, Corpus callosum, Hyperextension, Hyperflexion.