1 - Department of Neuroradiology, Centro Hospitalar de Lisboa Central, Lisboa, Portugal
2 - Department of Neurosurgery, Centro Hospitalar de Lisboa Central, Lisboa, Portugal
3- Department of Neuropediatrics, Centro Hospitalar de Lisboa Central, Lisboa, Portugal
-ESMNR 2015, 13-16 May 2015, Porto, Portugal
Aicardi syndrome (AS) is classically defined by a triad of corpus callosum agenesis, chorioretinal "lacunae" and infantile spasms. In recent years and with the advent of MRI, further imaging findings have been described: cortical polymicrogyria, periventricular heterotopia, choroid plexus anomalies, intracranial cysts and gross asymmetry of the hemispheres, that probably represents a specific malformation complex and is highly suggestive of AS. The purpose of this exhibit is to describe a case of AS detected in fetal MRI and confirmed in postnatal clinical assessment and imaging studies.
A pregnant woman was referred to our neuroradiology department for an avascular inter-hemispheric cyst detected in prenatal ultrasound. Fetal MRI was performed at 35 weeks of gestation, and depicted several intracranial anomalies, including agenesis of the corpus callosum with associated inter-hemispheric, multiseptated cyst, a space occupying lesion of the III ventricle, subependymal heterotopias and thickening and irregularity of the frontal cortex. After birth the newborn developed partial seizures and a brain MRI was performed, corroborating the prenatal findings and better depicting the cortical malformation (compatible with polymicrogyria). Diagnosis of Aicardi syndrome was later confirmed by ophthalmologic findings.
We present a case of Aicardi syndrome with pre and postnatal MRI. Prenatal images were quite elucidative, but since it is a clinical-imagiological entity, definitive diagnosis wasn’t possible until postnatal evaluation. Imaging findings in these patients are paramount for the diagnosis as callosal agenesis is a mandatory feature.