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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
- Stoll C et al: Associated anomalies in cases with agenesis of the corpus callosum. Am J Med Genet A. 179(10):2101-11, 2019
- 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
- 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
- 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
- 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
- Shetty J et al: Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? Eur J Paediatr Neurol. 18(4):529-31, 2014
- 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
- Grosso S et al: Aicardi syndrome with favorable outcome: case report and review. Brain Dev. 29(7):443-6, 2007
- Palmér L et al: Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. Neuropediatrics. 37(3):154-8, 2006
- 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
- Stoll C et al: Associated anomalies in cases with agenesis of the corpus callosum. Am J Med Genet A. 179(10):2101-11, 2019
- 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
- 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
- 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
- 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
- Shetty J et al: Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? Eur J Paediatr Neurol. 18(4):529-31, 2014
- 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
- Grosso S et al: Aicardi syndrome with favorable outcome: case report and review. Brain Dev. 29(7):443-6, 2007
- Palmér L et al: Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002. Neuropediatrics. 37(3):154-8, 2006
- Aicardi J: Aicardi syndrome. Brain Dev. 27(3):164-71, 2005
