Aicardi syndrome: a case report

Abstract

Introduction: Aicardi syndrome is a rare and serious genetic condition, exclusively female. Characterized by a triad composed by: infantile spasms, chorioretinal lacunae and corpus callosum agenesis. Its diagnosis is clinical, and its evolution follows epileptic seizures that are difficult to control. Objective: To report the importance of thinking about this clinical condition during pregnancy and proving the clinical condition soon after birth. In addition to demonstrating how to make the correct diagnosis and the impact it has, if performed early, on the preservation of patient functionality, seeking a better neurological outcome. Case description: A female patient with a fetal diagnosis of corpus callosum agenesis by morphological ultrasonography presented respiratory failure at birth. Need for anti-epileptic medications over the months, becoming a drug resistant epilepsy. Discussion: The diagnosis of Aicardi syndrome is difficult to make because it is a little known syndrome and also due to the evolution of the disease, which takes some time to fully manifest. However, it is of utmost importance that it be done as early as possible in order to avoid complications and delay as much as possible the neurodegenerative effects of the disease.