Aicardi Syndrome (AS) is a rare X-linked congenital disorder traditionally characterized by a triad of dysgenesis of corpus callosum, seizures, and chorioretinal abnormalities. Patients often have severe psychomotor delay and shortened life expectancy. However, Aicardi syndrome is a clinically heterogeneous disorder. We present a case of a 14-year-old with the traditional triad of history of infantile spasm, complete agenesis of the corpus callosum, and chorioretinal abnormality but with peripapillary staphyloma and with no psychomotor delays. Based on the review of literature, this is the first reported case of AS in the Philippines, the first reported case of AS with peripapillary staphyloma, and is one of the 3 reported cases of AS with normal psychomotor development. There remains no factor that can prognosticate cognitive function in AS at present including genetic testing.

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

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

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 defined by the clinical triad infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Infantile spasm begins at early infancy and tends to be controlled poorly. The prognosis is poor in the patient with severe developmental delay and intractable seizures being common. We present a case of Aicardi syndrome in the 9-month-old female infant with infantile spasm, spastic tetraplegia and microcephaly. Her brain MRI revealed corpus callosum agenesis, atrophy of left hemisphere and periventricular heterotopia. She showed bilateral choroidal and optic disc coloboma. We report this case with the review of literatures.
Agenesis of Corpus Callosum ; Aicardi Syndrome* ; Atrophy ; Brain ; Choroid ; Coloboma ; Corpus Callosum ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Microcephaly ; Periventricular Nodular Heterotopia ; Prognosis ; Quadriplegia ; Seizures ; Spasms, Infantile

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