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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
- Major features
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
- Aicardi J: Aicardi syndrome. Brain Dev. 27(3):164-71, 2005
- Rosser T: Aicardi syndrome. Arch Neurol. 60(10):1471-3, 2003
- 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
- Major features
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
- Aicardi J: Aicardi syndrome. Brain Dev. 27(3):164-71, 2005
- Rosser T: Aicardi syndrome. Arch Neurol. 60(10):1471-3, 2003
- Rosser TL et al: Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females. Pediatr Neurol. 27(5):343-6, 2002
