Aicardi syndrome is a rare neurodevelopmental disease characterised by congenital chorioretinal lacunae, corpus callosum dysgenesis, seizures, polymicrogyria, cerebral callosum, chorioretinopathy and electroencephalogram abnormality. We present a case of Aicardi syndrome with callosal hypogenesis in a 4.5-month-old baby who presented with infantile spasms. Ophthalmoscopy revealed chorioretinal lacunae. The clinical and magnetic resonance imaging features were diagnostic of Aicardi syndrome.
Agenesis of Corpus Callosum ; diagnosis ; Aicardi Syndrome ; diagnosis ; Brain ; diagnostic imaging ; pathology ; Choroid ; abnormalities ; Cornea ; physiopathology ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; methods ; Malformations of Cortical Development ; diagnosis ; Ophthalmoscopy ; methods ; Radiography ; Retina ; abnormalities ; Spasms, Infantile ; diagnosis

OBJECTIVE: To report the clinical characteristics of the fetuses with agenesis of corpus callosum (ACC) diagnosed by prenatal ultrasonography. METHODS: Between 1998 and 2007, total twenty-two cases of ACC were identified. All cases were diagnosed by the direct evaluation of the corpus callosum using the ultrasonograpy with or without 3D multi-slice technique and color Doppler. Postnatal work-up was done by MRI or autopsy. RESULTS: The median gestational week was 26 weeks (19 to 34 weeks). The most common abnormal ultrasonographic finding was ventriculomegaly, shown in 19 (86.3%) of 22 cases. Absent cavum septum pellucidum and dilated upward displacement of third ventricle were also shown in 18 (81.8%) and 15 (68.2%) of 22 cases, respectively. Postnatal work-up performed in 9 cases (4 live-born babies and 5 still births) additionally confirmed the associated anomalies in three cases including a heart defect, an Aicardi syndrome, and trisomy 18. CONCLUSION: The analysis of 22 cases presented in this report provides the precise materials to understand ACC. Targeted ultrasonographic evaluation may be helpful for prenatal diagnosis of ACC but has the limitation in differentiation of an isolated ACC from complex defect. To solve this limitation, therefore, the meticulous prenatal work-up and counseling would be needed.
Agenesis of Corpus Callosum ; Aicardi Syndrome ; Corpus Callosum ; Counseling ; Displacement (Psychology) ; Fetus ; Heart ; Prenatal Diagnosis ; Septum Pellucidum ; Third Ventricle ; Trisomy

Aicardi syndrome is a congenital multiorgan disorder which is characterized by agenesis of the corpus callosum, chorioretinal ""lacunae"" (often associated with retinal colobomas and microphthalmia), vertebral anomalies, a characteristic seizure disorder, and mental retardation. We present a case of Aicardi syndrome with cleft lip and palate.
Aicardi Syndrome* ; Cleft Lip ; Coloboma ; Corpus Callosum ; Epilepsy ; Intellectual Disability ; Palate ; Retinaldehyde

A case of Aicardi syndrome with cleft lip and palate was experienced at the Department of Pediatrics, College of Medicine, Hallym University, and the patient's infantile spasm was treated with ACTH. In previous studies, four cases of Aicardi syndrome accompanied by cleft lip and palate were reported. We present the fifth case of Aicardi syndrome with cleft lip and palate in the world. Thus, facial clefts may be found as an occasional manifestation of Aicardi syndrome.
Adrenocorticotropic Hormone ; Aicardi Syndrome* ; Cleft Lip* ; Infant ; Infant, Newborn ; Palate* ; Pediatrics ; Spasms, Infantile