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Aicardi Syndrome
P. Ellen Grant, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Aicardi (AIC) syndrome
            • Definitions

              • Classic triad of callosal dysgenesis, infantile spasms, and chorioretinal lacunae

            IMAGING

            • General Features

              • Imaging Recommendations

                • CT Findings

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              Selected References

                              1. Lund C et al: Aicardi syndrome: an epidemiologic and clinical study in Norway. Pediatr Neurol. 52(2):182-6.e3, 2015
                              2. Crow YJ et al: Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A. 167A(2):296-312, 2015
                              3. Cuadrado E et al: Phenotypic Variation in Aicardi-Goutières Syndrome Explained by Cell-Specific IFN-Stimulated Gene Response and Cytokine Release. J Immunol. 194(8):3623-33, 2015
                              4. 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
                              5. Pires CR et al: Aicardi syndrome: Neonatal diagnosis by means of transfontanellar ultrasound. World J Radiol. 6(7):511-4, 2014
                              6. Shetty J et al: Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? Eur J Paediatr Neurol. 18(4):529-31, 2014
                              7. Steffensen TS et al: Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. Fetal Pediatr Pathol. 28(1):24-38, 2009
                              8. Hopkins B et al: Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 146A(22):2871-8, 2008
                              9. 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
                              10. Grosso S et al: Aicardi syndrome with favorable outcome: case report and review. Brain Dev. 29(7):443-6, 2007
                              11. Palmér L et al: Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. Neuropediatrics. 37(3):154-8, 2006
                              12. Aicardi J: Aicardi syndrome. Brain Dev. 27(3):164-71, 2005
                              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

                                        TERMINOLOGY

                                        • Abbreviations

                                          • Aicardi (AIC) syndrome
                                        • Definitions

                                          • Classic triad of callosal dysgenesis, infantile spasms, and chorioretinal lacunae

                                        IMAGING

                                        • General Features

                                          • Imaging Recommendations

                                            • CT Findings

                                              DIFFERENTIAL DIAGNOSIS

                                                PATHOLOGY

                                                • General Features

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Demographics

                                                      • Natural History & Prognosis

                                                        • Treatment

                                                          Selected References

                                                          1. Lund C et al: Aicardi syndrome: an epidemiologic and clinical study in Norway. Pediatr Neurol. 52(2):182-6.e3, 2015
                                                          2. Crow YJ et al: Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A. 167A(2):296-312, 2015
                                                          3. Cuadrado E et al: Phenotypic Variation in Aicardi-Goutières Syndrome Explained by Cell-Specific IFN-Stimulated Gene Response and Cytokine Release. J Immunol. 194(8):3623-33, 2015
                                                          4. 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
                                                          5. Pires CR et al: Aicardi syndrome: Neonatal diagnosis by means of transfontanellar ultrasound. World J Radiol. 6(7):511-4, 2014
                                                          6. Shetty J et al: Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? Eur J Paediatr Neurol. 18(4):529-31, 2014
                                                          7. Steffensen TS et al: Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. Fetal Pediatr Pathol. 28(1):24-38, 2009
                                                          8. Hopkins B et al: Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 146A(22):2871-8, 2008
                                                          9. 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
                                                          10. Grosso S et al: Aicardi syndrome with favorable outcome: case report and review. Brain Dev. 29(7):443-6, 2007
                                                          11. Palmér L et al: Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. Neuropediatrics. 37(3):154-8, 2006
                                                          12. Aicardi J: Aicardi syndrome. Brain Dev. 27(3):164-71, 2005