Complications

See the list below:

Early sudden death is typical in severely affected individuals and is usually caused by pulmonary complications such as pneumonia.
Seizures or their treatments (eg, adrenocorticotropic hormone [ACTH]) may also be associated with increased morbidity (eg, hypertension, diabetes, infections) and death.
The aforementioned malignancies may develop, and choroid plexus papillomas may cause obstructive hydrocephalus.

Prognosis

See the list below:

Prognosis is uniformly poor, with most children unable to walk or communicate; those who can are not high-functioning and require continuous care for their needs.
Survival rates have been improving, with an estimated survival of 62% at age 27 years.

Patient Education

For patient education resources, see the Brain and Nervous System Center and Children's Health Center, as well as Epilepsy and Seizures in Children.

Patients may also be referred to the Aicardi Syndrome Foundation.

Aicardi J, Lefebvre J, Lerique-Koechlin A. A new syndrome: spasm in flexion, callosal agenesis, ocular abnormalities. Electroencephalogr Clin Neurophysiol. 1965. 19:609-10.
Dennis J, Bower BD. The Aicardi syndrome. Dev Med Child Neurol. 1972 Jun. 14(3):382-90. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Study of Selected X-Linked Disorders: Aicardi Syndrome. Clinicaltrials.gov. Available at http://clinicaltrials.gov/ct2/show/NCT00697411?cond=%22Aicardi+syndrome%22&rank=1.
Piras IS, Mills G, Llaci L, et al. Exploring genome-wide DNA methylation patterns in Aicardi syndrome. Epigenomics. 2017 Nov. 9 (11):1373-86. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Zubairi MS, Carter RF, Ronen GM. A male phenotype with Aicardi syndrome. J Child Neurol. 2009 Feb. 24(2):204-7. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link]. [Full Text].
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. [QxMD MEDLINE Link].
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.
Govil-Dalela T, Kumar A, Agarwal R, Chugani HT. Agenesis of the Corpus Callosum and Aicardi Syndrome: A Neuroimaging and Clinical Comparison. Pediatr Neurol. 2017 Mar. 68:44-8.e2. [QxMD MEDLINE Link].
Sutton VR, Van den Veyver IB. Aicardi Syndrome. June 2006. [Full Text].
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. [QxMD MEDLINE Link]. [Full Text].
Grigoriou E, DeSabato JJ, Colo D, Dormans JP. Scoliosis in Children With Aicardi Syndrome. J Pediatr Orthop. 2015 Jul-Aug. 35 (5):e38-42. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link]. [Full Text].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].

Media Gallery

Cross-section of an eye in a patient with Aicardi syndrome. The arrow indicates chorioretinal lacunae.
Chorioretinal lacunae.

of 2

Author

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.

Acknowledgements

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.