Aicardi syndrome: Neonatal diagnosis by means of transfontanellar ultrasound

摘要

Aicardi syndrome is a rare genetic disease characterized by a characteristic classical trio of neurological clinical abnormalities (spasms), agenesis of the corpus callosum and ophthalmological abnormalities (chorioretinal lacunae). The diagnosis can be suspected by prenatal ultrasound with color Doppler identifying the agenesis of the corpus callosum. Usually, the diagnosis is confirmed in the neonate period by transfontanellar ultrasound and ophthalmological examination. We present a case of newborn with Aicardi syndrome, being the transfontanellar identified partial dysgenesis of the corpus callosum and a cyst in the inter-hemispheric fissure. Ophthalmological examination showed bilateral chorioretinal lacunae.