EP01.13: Prenatal diagnosis of Aicardi syndrome: a case report

Abstract

Aicardi syndrome (AS) is a rare neurogenic disorder characterised by the triad of corpus callosum dysgenesis (ACC), chorioretinal ‘lacunae’, and infantile spasms. The diagnosis of ACC is feasible by sonography, yet chorioretinal lacunae are very difficult to diagnose. There are also some additional brain abnormalities including: malformation of the cortical development (MCD), interhemispheric cyst and heterotopia. Therefore the diagnosis of AS largely dependent on neurosonography (NSG). A 24–year-old woman, para 0, was referred to our hospital due to a suspicion of fetal brain anomaly at 22 weeks of gestation. Multiple cysts of the fetal brain were noted on axial plane. NSG revealed a complete ACC, interhemispheric arachnoid cysts, a choroid plexus cyst, asymmetry between 2 cerebral hemispheres and suspected MCD. The diagnosis of AS was made according to our NSG findings. The findings of the fetal MRI do not contribute to the final diagnosis because our radiologist overlooked the MCD. The couple chose to terminate the pregnancy. A female abortus was born. Necropsy was declined. The karyotype was normal female and the arrays CGH was normal. The first clue in making the diagnosis in our case was the finding of ACC. Either complete or partial type can be diagnosed by NSG. Intracranial cysts were easily found by both the fetal MRI and by NSG. Asymmetry between 2 cerebral hemispheres with irregular folds led us to suspect MCD and make the diagnosis of AS. Although most authors think fetal MRI is the gold-standard imaging modality for diagnosing AS, MCD is easily overlooked by the fetal MRI in early gestation like in our case. Because AS is mostly present in the female fetus, the prenatal exam should include gender. If there is a ACC with intracranial cysts in the female fetus, AS should be on the list of differential diagnosis. Subsequent NSG and fetal MRI should be used to scrutinise fetal brain anatomy.