Clinical triad of infantile spasms, agenesis of corpus callosum (ACC), and chorioretinal lacunae described in 1965
In 1999, criteria broadened to include 2 classic + 2 other major or supporting features
Major features
Cortical malformation (mostly polymicrogyria)
Periventricular/subcortical heterotopia
Cysts around 3rd ventricle/choroid plexus
Choroid plexus papilloma
Optic disc/nerve coloboma
Supporting features
Costovertebral abnormalities
Microphthalmia or other eye abnormalities
Gross cerebral hemispheric asymmetry
IMAGING
General Features
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Masnada S et al: Basal ganglia dysmorphism in patients with Aicardi syndrome. Neurology. 96(9):e1319-33, 2021
Masnada S et al: Aicardi syndrome: key fetal MRI features and prenatal differential diagnosis. Neuropediatrics. 51(4):276-85, 2020
Govil-Dalela T et al: Agenesis of the corpus callosum and aicardi syndrome: a neuroimaging and clinical comparison. Pediatr Neurol. 68:44-8.e2, 2017
Piras IS et al: Exploring genome-wide DNA methylation patterns in Aicardi syndrome. Epigenomics. 9(11):1373-86, 2017
Tuft M et al: Aicardi syndrome and cognitive abilities: a report of five cases. Epilepsy Behav. 73:161-5, 2017
Podkorytova I et al: Aicardi syndrome: epilepsy surgery as a palliative treatment option for selected patients and pathological findings. Epileptic Disord. 18(4):431-9, 2016
Grigoriou E et al: Scoliosis in children with Aicardi syndrome. J Pediatr Orthop. 35(5):e38-42, 2015
Lund C et al: Aicardi syndrome: an epidemiologic and clinical study in Norway. Pediatr Neurol. 52(2):182-6.e3, 2015
Kasasbeh AS et al: Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature. Childs Nerv Syst. 30(3):497-503, 2014
Pires CR et al: Aicardi syndrome: neonatal diagnosis by means of transfontanellar ultrasound. World J Radiol. 6(7):511-4, 2014
Hergan B et al: Serial fetal MRI for the diagnosis of Aicardi syndrome. Neuroradiol J. 26(4):380-4, 2013
Sandhu PS et al: Novel presentation of Aicardi syndrome with agenesis of the corpus callosum and an orbital cyst. J Ultrasound Med. 29(5):843-6, 2010
Columbano L et al: Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome. Childs Nerv Syst. 25(5):521-2, 2009
Muthugovindan D et al: Aicardi syndrome mimicking intrauterine hydrocephalus. Brain Dev. 31(8):638-40, 2009
Steffensen TS et al: Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. Fetal Pediatr Pathol. 28(1):24-38, 2009
Hopkins B et al: Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 146A(22):2871-8, 2008
Glasmacher MA et al: Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol. 22(2):176-84, 2007
Rosser TL et al: Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females. Pediatr Neurol. 27(5):343-6, 2002
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Definitions
Clinical triad of infantile spasms, agenesis of corpus callosum (ACC), and chorioretinal lacunae described in 1965
In 1999, criteria broadened to include 2 classic + 2 other major or supporting features
Major features
Cortical malformation (mostly polymicrogyria)
Periventricular/subcortical heterotopia
Cysts around 3rd ventricle/choroid plexus
Choroid plexus papilloma
Optic disc/nerve coloboma
Supporting features
Costovertebral abnormalities
Microphthalmia or other eye abnormalities
Gross cerebral hemispheric asymmetry
IMAGING
General Features
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Masnada S et al: Basal ganglia dysmorphism in patients with Aicardi syndrome. Neurology. 96(9):e1319-33, 2021
Masnada S et al: Aicardi syndrome: key fetal MRI features and prenatal differential diagnosis. Neuropediatrics. 51(4):276-85, 2020
Govil-Dalela T et al: Agenesis of the corpus callosum and aicardi syndrome: a neuroimaging and clinical comparison. Pediatr Neurol. 68:44-8.e2, 2017
Piras IS et al: Exploring genome-wide DNA methylation patterns in Aicardi syndrome. Epigenomics. 9(11):1373-86, 2017
Tuft M et al: Aicardi syndrome and cognitive abilities: a report of five cases. Epilepsy Behav. 73:161-5, 2017
Podkorytova I et al: Aicardi syndrome: epilepsy surgery as a palliative treatment option for selected patients and pathological findings. Epileptic Disord. 18(4):431-9, 2016
Grigoriou E et al: Scoliosis in children with Aicardi syndrome. J Pediatr Orthop. 35(5):e38-42, 2015
Lund C et al: Aicardi syndrome: an epidemiologic and clinical study in Norway. Pediatr Neurol. 52(2):182-6.e3, 2015
Kasasbeh AS et al: Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature. Childs Nerv Syst. 30(3):497-503, 2014
Pires CR et al: Aicardi syndrome: neonatal diagnosis by means of transfontanellar ultrasound. World J Radiol. 6(7):511-4, 2014
Hergan B et al: Serial fetal MRI for the diagnosis of Aicardi syndrome. Neuroradiol J. 26(4):380-4, 2013
Sandhu PS et al: Novel presentation of Aicardi syndrome with agenesis of the corpus callosum and an orbital cyst. J Ultrasound Med. 29(5):843-6, 2010
Columbano L et al: Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome. Childs Nerv Syst. 25(5):521-2, 2009
Muthugovindan D et al: Aicardi syndrome mimicking intrauterine hydrocephalus. Brain Dev. 31(8):638-40, 2009
Steffensen TS et al: Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. Fetal Pediatr Pathol. 28(1):24-38, 2009
Hopkins B et al: Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 146A(22):2871-8, 2008
Glasmacher MA et al: Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol. 22(2):176-84, 2007