← Back to guidelines
Pediatrics6 papers

Aicardi's syndrome

Last edited: 4/14/2026

Overview

Aicardi's syndrome is a rare genetic disorder predominantly affecting females, characterized by agenesis of the corpus callosum, infantile spasms, characteristic ocular anomalies (including chorioretinal lacunae), and often severe developmental delay and mental retardation 134.

Diagnosis

  • Key Diagnostic Criteria:
  • - Agenesis of the corpus callosum - Infantile spasms - Ocular anomalies (e.g., chorioretinal lacunae) - Severe developmental delay and mental retardation
  • Recommended Tests:
  • - MRI Brain Imaging: Reveals cortical migration defects (94%) and variability in callosal defects 1 - Neurosonography: Bilateral prominent cysts in the choroid plexus alongside agenesis of the corpus callosum 2 - EEG: Characteristic multifocal epileptiform abnormalities on a burst-suppression pattern showing interhemispheric asynchrony 5

    Management

  • First-Line Treatments:
  • - Antiepileptic Drugs (AEDs): To manage infantile spasms; specific drugs not detailed but commonly include valproate, vigabatrin, or adrenocorticotropic hormone (ACTH) 35
  • Adjunctive Treatments:
  • - Early Intervention Programs: For developmental support 3 - Physical and Occupational Therapy: To address motor and functional impairments 3

    Special Populations

  • Pediatrics: Early recognition via neuroimaging and EEG is crucial for timely intervention 125
  • Comorbidities: No specific management details provided for comorbidities; focus remains on symptomatic treatment and supportive care 34
  • Key Recommendations

  • Utilize MRI and EEG for definitive diagnosis of Aicardi's syndrome, identifying characteristic brain abnormalities and EEG patterns 15 (Evidence: Strong)
  • Initiate early antiepileptic therapy targeting infantile spasms to improve seizure control and developmental outcomes 35 (Evidence: Moderate)
  • Implement comprehensive early intervention programs to support developmental delays in affected children 3 (Evidence: Expert opinion)
  • References

    1 Smith CD, Ryan SJ, Hoover SL, Baumann RJ. Magnetic resonance imaging of the brain in Aicardi's syndrome. Report of 20 patients. Journal of neuroimaging : official journal of the American Society of Neuroimaging 1996. link 2 Roland EH, Flodmark O, Hill A. Neurosonographic features of Aicardi's syndrome. Journal of child neurology 1989. link 3 Dinani S, Jancar J. Aicardi's syndrome: (agenesis of the corpus callosum, infantile spasms, and ocular anomalies). Journal of mental deficiency research 1984. link 4 Denslow GT, Robb RM. Aicardi's syndrome: a report of four cases and review of the literature. Journal of pediatric ophthalmology and strabismus 1979. link 5 Fariello RG, Chun RW, Doro JM, Buncic JR, Prichard JS. EEG recognition of Aicardi's syndrome. Archives of neurology 1977. link

    Original source

    1. [1]
      Magnetic resonance imaging of the brain in Aicardi's syndrome. Report of 20 patients.Smith CD, Ryan SJ, Hoover SL, Baumann RJ Journal of neuroimaging : official journal of the American Society of Neuroimaging (1996)
    2. [2]
      Neurosonographic features of Aicardi's syndrome.Roland EH, Flodmark O, Hill A Journal of child neurology (1989)
    3. [3]
      Aicardi's syndrome: (agenesis of the corpus callosum, infantile spasms, and ocular anomalies).Dinani S, Jancar J Journal of mental deficiency research (1984)
    4. [4]
      Aicardi's syndrome: a report of four cases and review of the literature.Denslow GT, Robb RM Journal of pediatric ophthalmology and strabismus (1979)
    5. [5]
      EEG recognition of Aicardi's syndrome.Fariello RG, Chun RW, Doro JM, Buncic JR, Prichard JS Archives of neurology (1977)

    HemoChat

    by SPINAI

    Evidence-based clinical decision support powered by SNOMED-CT, Neo4j GraphRAG, and NASS/AO/NICE guidelines.

    ⚕ For clinical reference only. Not a substitute for professional judgment.

    © 2026 HemoChat. All rights reserved.
    Research·Pricing·Privacy & Terms·Refund·SNOMED-CT · NASS · AO Spine · NICE · GraphRAG