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Aicardi Syndrome
Anne Kennedy, MD
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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

              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

                                    1. Masnada S et al: Basal ganglia dysmorphism in patients with Aicardi syndrome. Neurology. 96(9):e1319-33, 2021
                                    2. Masnada S et al: Aicardi syndrome: key fetal MRI features and prenatal differential diagnosis. Neuropediatrics. 51(4):276-85, 2020
                                    3. 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
                                    4. Piras IS et al: Exploring genome-wide DNA methylation patterns in Aicardi syndrome. Epigenomics. 9(11):1373-86, 2017
                                    5. Tuft M et al: Aicardi syndrome and cognitive abilities: a report of five cases. Epilepsy Behav. 73:161-5, 2017
                                    6. 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
                                    7. Grigoriou E et al: Scoliosis in children with Aicardi syndrome. J Pediatr Orthop. 35(5):e38-42, 2015
                                    8. Lund C et al: Aicardi syndrome: an epidemiologic and clinical study in Norway. Pediatr Neurol. 52(2):182-6.e3, 2015
                                    9. 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
                                    10. Pires CR et al: Aicardi syndrome: neonatal diagnosis by means of transfontanellar ultrasound. World J Radiol. 6(7):511-4, 2014
                                    11. Hergan B et al: Serial fetal MRI for the diagnosis of Aicardi syndrome. Neuroradiol J. 26(4):380-4, 2013
                                    12. 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
                                    13. Columbano L et al: Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome. Childs Nerv Syst. 25(5):521-2, 2009
                                    14. Muthugovindan D et al: Aicardi syndrome mimicking intrauterine hydrocephalus. Brain Dev. 31(8):638-40, 2009
                                    15. Steffensen TS et al: Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. Fetal Pediatr Pathol. 28(1):24-38, 2009
                                    16. Hopkins B et al: Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 146A(22):2871-8, 2008
                                    17. 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
                                    18. Aicardi J: Aicardi syndrome. Brain Dev. 27(3):164-71, 2005
                                    19. Rosser T: Aicardi syndrome. Arch Neurol. 60(10):1471-3, 2003
                                    20. Rosser TL et al: Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females. Pediatr Neurol. 27(5):343-6, 2002
                                    Related Anatomy
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                                    Related Differential Diagnoses
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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

                                                                      1. Masnada S et al: Basal ganglia dysmorphism in patients with Aicardi syndrome. Neurology. 96(9):e1319-33, 2021
                                                                      2. Masnada S et al: Aicardi syndrome: key fetal MRI features and prenatal differential diagnosis. Neuropediatrics. 51(4):276-85, 2020
                                                                      3. 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
                                                                      4. Piras IS et al: Exploring genome-wide DNA methylation patterns in Aicardi syndrome. Epigenomics. 9(11):1373-86, 2017
                                                                      5. Tuft M et al: Aicardi syndrome and cognitive abilities: a report of five cases. Epilepsy Behav. 73:161-5, 2017
                                                                      6. 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
                                                                      7. Grigoriou E et al: Scoliosis in children with Aicardi syndrome. J Pediatr Orthop. 35(5):e38-42, 2015
                                                                      8. Lund C et al: Aicardi syndrome: an epidemiologic and clinical study in Norway. Pediatr Neurol. 52(2):182-6.e3, 2015
                                                                      9. 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
                                                                      10. Pires CR et al: Aicardi syndrome: neonatal diagnosis by means of transfontanellar ultrasound. World J Radiol. 6(7):511-4, 2014
                                                                      11. Hergan B et al: Serial fetal MRI for the diagnosis of Aicardi syndrome. Neuroradiol J. 26(4):380-4, 2013
                                                                      12. 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
                                                                      13. Columbano L et al: Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome. Childs Nerv Syst. 25(5):521-2, 2009
                                                                      14. Muthugovindan D et al: Aicardi syndrome mimicking intrauterine hydrocephalus. Brain Dev. 31(8):638-40, 2009
                                                                      15. Steffensen TS et al: Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. Fetal Pediatr Pathol. 28(1):24-38, 2009
                                                                      16. Hopkins B et al: Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 146A(22):2871-8, 2008
                                                                      17. 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
                                                                      18. Aicardi J: Aicardi syndrome. Brain Dev. 27(3):164-71, 2005
                                                                      19. Rosser T: Aicardi syndrome. Arch Neurol. 60(10):1471-3, 2003
                                                                      20. Rosser TL et al: Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females. Pediatr Neurol. 27(5):343-6, 2002