Medscape is available in 5 Language Editions – Choose your Edition here.


Aicardi Syndrome Workup

  • Author: Ravi Sunderkrishnan, MD; Chief Editor: Maria Descartes, MD  more...
Updated: Mar 31, 2016

Laboratory Studies

No single laboratory finding exists to make a diagnosis. Rather, the diagnosis is made on the basis of clinical features, with neuroimaging studies to support the diagnosis.

  • Most children should have high-resolution karyotyping. If the diagnosis is doubtful, consider evaluating them for inborn metabolic error and congenital infection.
  • If typical clinical findings manifest in a male, look for an XXY chromosomal pattern.

Imaging Studies

See the list below:

  • Neuroimaging can delineate the degree of CNS dysgenesis and help evaluate other potential etiologies of intractable epilepsy and developmental delay.[17]
  • MRI is preferred because its anatomic resolution is superior to CT scanning. Although CT scanning demonstrates the typical pattern of complete agenesis of the corpus callosum, partial agenesis and cortical migration abnormalities may not be evident.[18]
  • CT scanning can demonstrate calcifications (possible in congenital infections) better than MRI. If the diagnosis is questionable, CT scanning may be a helpful additional study.
  • Plain radiographs can help confirm the diagnosis by showing skeletal malformations. The most notable findings include costovertebral abnormalities, commonly affecting the thoracic vertebrae.

Other Tests

See the list below:

  • Ophthalmologic assessment: Evaluation by an experienced ophthalmologist is crucial, especially if optic malformation (eg, anterior chamber abnormalities) makes the examination more difficult.
  • Electroencephalography (EEG)
    • A pattern highly suggestive of the diagnosis in the typical clinical context is the presence of a burst suppression pattern, with complete asynchrony between the two hemispheres.
    • Often, 6 months after the onset of symptoms, the classic EEG may be replaced by multiple epileptic foci with a disorganized background.
    • In one case, the EEG findings prompted a search for other characteristics to establish the diagnosis.
    • EEG findings, along with diminished seizure frequency, commonly evolve as a patient ages. Nevertheless, some findings have shown an evolution from epileptic encephalopathy with suppression-burst (Ohtahara syndrome) to West syndrome and, subsequently, to the Lennox-Gastaut syndrome.

Histologic Findings

See the list below:

  • Multiple brain malformations are common and may include complete or partial agenesis of the corpus callosum, cortical heterotopias, gyral malformation, and intraventricular cysts. These abnormalities do not affect all patients uniformly, and the brain's appearance may be grossly normal, with a preserved corpus callosum. Microscopic evaluation of the parenchyma commonly reveals disordered cellular organization and disruption of the normal layered appearance of the cortex.
  • Chorioretinal lacunae are described as well-circumscribed, punched-out lesions in the retinal pigment epithelium and choroid. The region of these abnormalities contains severely disrupted retinal architecture; all layers are thinned, choroidal vessel number and caliber are decreased, and pigmentary ectopia and pigmentary epithelial hyperplasia are present.
Contributor Information and Disclosures

Ravi Sunderkrishnan, MD Fellow in Nephrology, Thomas Jefferson University Hospital

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

James Bowman, MD Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago

James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical and Translational Research, College of American Pathologists

Disclosure: Nothing to disclose.


Ronald G Davis, MD, MPH, FAAP Assistant Clinical Professor, Child Neurology, Florida State University; Owner and Medical Director of Pediatric Neurology, PA and Pediatric Neurology Epilepsy Center of Central Florida; Medical Director of Epileptology, Arnold Palmer Hospital for Women and Children in Orlando, Florida; Medical Director, Central Florida Muscular Dystrophy Association Clinic

Ronald G Davis, MD, MPH, FAAP is a member of the following medical societies: American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society

Disclosure: Nothing to disclose. Marc P DiFazio, MD Associate Professor, Department of Neurology, Uniformed Services University of the Health Sciences; Director, Pediatric Subspecialty Services, Shady Grove Adventist Hospital for Children

Marc P DiFazio, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Cerebral Palsy and Developmental Medicine, American Academy of Neurology, Child Neurology Society, and Movement Disorders Society

Disclosure: Nothing to disclose.

  1. Aicardi J, Lefebvre J, Lerique-Koechlin A. A new syndrome: spasm in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol. 1965. 19:609-10.

  2. Dennis J, Bower BD. The Aicardi syndrome. Dev Med Child Neurol. 1972 Jun. 14(3):382-90. [Medline].

  3. Steffensen TS, Gilbert-Barness E, Lacson A, Margo CE. Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. Fetal Pediatr Pathol. 2009. 28(1):24-38. [Medline].

  4. Study of Selected X-Linked Disorders: Aicardi Syndrome. Available at

  5. Kroner BL, Preiss LR, Ardini MA, Gaillard WD. New incidence, prevalence, and survival of Aicardi syndrome from 408 cases. J Child Neurol. 2008 May. 23(5):531-5. [Medline].

  6. Lund C, Bjornvold M, Tuft M, Kostov H, Rosby O, Selmer KK. Aicardi syndrome: an epidemiologic and clinical study in Norway. Pediatr Neurol. 2015 Feb. 52 (2):182-6.e3. [Medline].

  7. Kroner BL, Preiss LR, Ardini MA, Gaillard WD. New incidence, prevalence, and survival of Aicardi syndrome from 408 cases. J Child Neurol. 2008 May. 23(5):531-5. [Medline].

  8. Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D. Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol. 2007 Feb. 22(2):176-84. [Medline].

  9. Zubairi MS, Carter RF, Ronen GM. A male phenotype with Aicardi syndrome. J Child Neurol. 2009 Feb. 24(2):204-7. [Medline].

  10. Prontera P, Bartocci A, Ottaviani V, Isidori I, Rogaia D, Ardisia C, et al. Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?. Mol Syndromol. 2013 Apr. 4(4):197-202. [Medline]. [Full Text].

  11. Sandhu PS, Khong K, McGahan JP, Ro K, Lloyd WC 3rd, Towner D. Novel presentation of Aicardi syndrome with agenesis of the corpus callosum and an orbital cyst. J Ultrasound Med. 2010 May. 29(5):843-6. [Medline].

  12. Chevrie J, Aicardi J. The Aicardi syndrome. Pedley T, Meldrum B, eds. Recent Advances in Epilepsy. Edinburgh and London, England: Churchill Livingstone; 1986. 189-210.

  13. Sutton VR, Van den Veyver IB. Aicardi Syndrome. June 2006. [Full Text].

  14. Shah PK, Narendran V, Kalpana N. Aicardi syndrome: the importance of an ophthalmologist in its diagnosis. Indian J Ophthalmol. 2009 May-Jun. 57(3):234-6. [Medline]. [Full Text].

  15. Grigoriou E, DeSabato JJ, Colo D, Dormans JP. Scoliosis in Children With Aicardi Syndrome. J Pediatr Orthop. 2015 Jul-Aug. 35 (5):e38-42. [Medline].

  16. Eble TN, Sutton VR, Sangi-Haghpeykar H, Wang X, Jin W, Lewis RA, et al. Non-random X chromosome inactivation in Aicardi syndrome. Hum Genet. 2009 Mar. 125(2):211-6. [Medline]. [Full Text].

  17. Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G. Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 2008 Nov 15. 146A(22):2871-8. [Medline].

  18. Hergan B, Atar OD, Poretti A, Huisman TA. Serial fetal MRI for the diagnosis of Aicardi syndrome. Neuroradiol J. 2013 Aug. 26(4):380-4. [Medline].

  19. Kasasbeh AS, Gurnett CA, Smyth MD. Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature. Childs Nerv Syst. 2014 Mar. 30(3):497-503. [Medline].

  20. [Guideline] Laurino MY, Bennett RL, Saraiya DS, et al. Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2005 Jun. 14(3):165-81. [Medline]. [Full Text].

  21. Aicardi J. Aicardi syndrome. Brain Dev. 2005 Apr. 27(3):164-71. [Medline].

  22. Chau V, Karvelas G, Jacob P, Carmant L. Early treatment of Aicardi syndrome with vigabatrin can improve outcome. Neurology. 2004 Nov 9. 63(9):1756-7. [Medline].

  23. Darwish H. Aicardi syndrome. Gilman S, Goldstein G, eds. Neurobase. San Diego, CA: Arbor Publishing Corp; 1999. Vol 2:

  24. Hamano S, Yagishita S, Kawakami M, et al. Aicardi syndrome: postmortem findings. Pediatr Neurol. 1989 Jul-Aug. 5(4):259-61. [Medline].

  25. Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G. Neuroimaging aspects of Aicardi syndrome. Am J Med Genet A. 2008 Nov 15. 146A(22):2871-8. [Medline]. [Full Text].

  26. Kobayashi K, Oka M, Akiyama T, et al. Very fast rhythmic activity on scalp EEG associated with epileptic spasms. Epilepsia. 2004 May. 45(5):488-96. [Medline].

  27. Kobayashi K, Oka M, Inoue T, et al. Characteristics of slow waves on EEG associated with epileptic spasms. Epilepsia. 2005 Jul. 46(7):1098-105. [Medline].

  28. [Guideline] Mackay MT, Weiss SK, Adams-Webber T, et al. Practice parameter: medical treatment of infantile spasms: report of the American Academy of Neurology and the Child Neurology Society. Neurology. 2004 May 25. 62(10):1668-81. [Medline]. [Full Text].

  29. Menezes A, MacGregor D, Buncic J. Aicardi syndrome: natural history and possible predictors of severity. Pediatr Neurol. 1994 Nov. 11(4):313-8. [Medline].

  30. Menezes AV, Enzenauer RW, Buncic JR. Aicardi syndrome--the elusive mild case. Br J Ophthalmol. 1994 Jun. 78(6):494-6. [Medline]. [Full Text].

  31. Neidich J, Nussbaum R, Packer R, et al. Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. J Pediatr. 1990 Jun. 116(6):911-7. [Medline].

  32. Ohtsuka Y, Oka E, Terasaki T, Ohtahara S. Aicardi syndrome: a longitudinal clinical and electroencephalographic study. Epilepsia. 1993 Jul-Aug. 34(4):627-34. [Medline].

  33. Prats Vinas JM, Martinez Gonzalez MJ, Garcia Ribes A, et al. Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?. Dev Med Child Neurol. 2005 Jun. 47(6):419-20; discussion 364. [Medline].

  34. Rosser T, Acosta M, Packer R. Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females. Pediatr Neurol. 2002 Nov. 27(5):343-6. [Medline].

  35. Sabin A, Feldman H. Chorioretinopathy associated with other evidence of cerebral damage in childhood. J Pediatr. 1949. 35:296-309.

Cross-section of an eye in a patient with Aicardi syndrome. The arrow indicates chorioretinal lacunae.
Chorioretinal lacunae.
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.