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Aicardi Syndrome
Surjith Vattoth, MD, FRCR; P. Ellen Grant, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Aicardi (AIC) syndrome
              • Definitions

                • Classic triad of callosal dysgenesis, infantile spasms, & chorioretinal lacunae
                • Do not confuse with Aicardi-Goutières syndrome

              IMAGING

              • General Features

                • Imaging Recommendations

                  • CT Findings

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                Selected References

                                1. Stoll C et al: Associated anomalies in cases with agenesis of the corpus callosum. Am J Med Genet A. 179(10):2101-11, 2019
                                2. Uccella S et al: Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development. J Neurol. 266(5):1167-81, 2019
                                3. Wong BKY et al: Aicardi syndrome, an unsolved mystery: review of diagnostic features, previous attempts, and future opportunities for genetic examination. Am J Med Genet C Semin Med Genet. 178(4):423-31, 2018
                                4. 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
                                5. Lund C et al: Aicardi syndrome: an epidemiologic and clinical study in Norway. Pediatr Neurol. 52(2):182-6.e3, 2015
                                6. 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
                                7. Pires CR et al: Aicardi syndrome: neonatal diagnosis by means of transfontanellar ultrasound. World J Radiol. 6(7):511-4, 2014
                                8. Shetty J et al: Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? Eur J Paediatr Neurol. 18(4):529-31, 2014
                                9. Steffensen TS et al: Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. Fetal Pediatr Pathol. 28(1):24-38, 2009
                                10. Hopkins B et al: Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 146A(22):2871-8, 2008
                                11. 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
                                12. Grosso S et al: Aicardi syndrome with favorable outcome: case report and review. Brain Dev. 29(7):443-6, 2007
                                13. Palmér L et al: Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. Neuropediatrics. 37(3):154-8, 2006
                                14. 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

                                          • Diagnostic Checklist

                                            TERMINOLOGY

                                            • Abbreviations

                                              • Aicardi (AIC) syndrome
                                            • Definitions

                                              • Classic triad of callosal dysgenesis, infantile spasms, & chorioretinal lacunae
                                              • Do not confuse with Aicardi-Goutières syndrome

                                            IMAGING

                                            • General Features

                                              • Imaging Recommendations

                                                • CT Findings

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Demographics

                                                          • Natural History & Prognosis

                                                            • Treatment

                                                              Selected References

                                                              1. Stoll C et al: Associated anomalies in cases with agenesis of the corpus callosum. Am J Med Genet A. 179(10):2101-11, 2019
                                                              2. Uccella S et al: Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development. J Neurol. 266(5):1167-81, 2019
                                                              3. Wong BKY et al: Aicardi syndrome, an unsolved mystery: review of diagnostic features, previous attempts, and future opportunities for genetic examination. Am J Med Genet C Semin Med Genet. 178(4):423-31, 2018
                                                              4. 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
                                                              5. Lund C et al: Aicardi syndrome: an epidemiologic and clinical study in Norway. Pediatr Neurol. 52(2):182-6.e3, 2015
                                                              6. 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
                                                              7. Pires CR et al: Aicardi syndrome: neonatal diagnosis by means of transfontanellar ultrasound. World J Radiol. 6(7):511-4, 2014
                                                              8. Shetty J et al: Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? Eur J Paediatr Neurol. 18(4):529-31, 2014
                                                              9. Steffensen TS et al: Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. Fetal Pediatr Pathol. 28(1):24-38, 2009
                                                              10. Hopkins B et al: Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 146A(22):2871-8, 2008
                                                              11. 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
                                                              12. Grosso S et al: Aicardi syndrome with favorable outcome: case report and review. Brain Dev. 29(7):443-6, 2007
                                                              13. Palmér L et al: Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. Neuropediatrics. 37(3):154-8, 2006
                                                              14. Aicardi J: Aicardi syndrome. Brain Dev. 27(3):164-71, 2005