Aicardi syndrome

Jump to: navigation, search

WikiDoc Resources for Aicardi syndrome


Most recent articles on Aicardi syndrome

Most cited articles on Aicardi syndrome

Review articles on Aicardi syndrome

Articles on Aicardi syndrome in N Eng J Med, Lancet, BMJ


Powerpoint slides on Aicardi syndrome

Images of Aicardi syndrome

Photos of Aicardi syndrome

Podcasts & MP3s on Aicardi syndrome

Videos on Aicardi syndrome

Evidence Based Medicine

Cochrane Collaboration on Aicardi syndrome

Bandolier on Aicardi syndrome

TRIP on Aicardi syndrome

Clinical Trials

Ongoing Trials on Aicardi syndrome at Clinical

Trial results on Aicardi syndrome

Clinical Trials on Aicardi syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Aicardi syndrome

NICE Guidance on Aicardi syndrome


FDA on Aicardi syndrome

CDC on Aicardi syndrome


Books on Aicardi syndrome


Aicardi syndrome in the news

Be alerted to news on Aicardi syndrome

News trends on Aicardi syndrome


Blogs on Aicardi syndrome


Definitions of Aicardi syndrome

Patient Resources / Community

Patient resources on Aicardi syndrome

Discussion groups on Aicardi syndrome

Patient Handouts on Aicardi syndrome

Directions to Hospitals Treating Aicardi syndrome

Risk calculators and risk factors for Aicardi syndrome

Healthcare Provider Resources

Symptoms of Aicardi syndrome

Causes & Risk Factors for Aicardi syndrome

Diagnostic studies for Aicardi syndrome

Treatment of Aicardi syndrome

Continuing Medical Education (CME)

CME Programs on Aicardi syndrome


Aicardi syndrome en Espanol

Aicardi syndrome en Francais


Aicardi syndrome in the Marketplace

Patents on Aicardi syndrome

Experimental / Informatics

List of terms related to Aicardi syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Aicardi syndrome
ICD-10 Q04
ICD-9 742.2
OMIM 304050
DiseasesDB 29761
MedlinePlus 001664


Aicardi syndrome is an uncommon malformation syndrome characterized by absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms. Aicardi syndrome is inherited as an X-linked dominant trait that is lethal in males.

Historical Perspective

This disorder was first recognized as a distinct syndrome in 1965 by Jean Aicardi, a French neurologist. A review article by Dr. Aicardi (Aicardi J, Aicardi syndrome: old and new findings, Int Pediatr. 1998;14(1):5-8) describes the syndrome. Aicardi syndrome should not be confused with Aicardi-Goutières syndrome, a distinct disorder.




Almost all reported cases of Aicardi syndrome have been in females. The few males that have been identified with Aicardi syndrome have proved to have 47 chromosomes including an XXY sex chromosome complement, a condition called Klinefelter syndrome.

Aicardi syndrome appears to be lethal in normal males who have only one X chromosome (and a Y chromosome). In other words, Aicardi syndrome appears to be inherited in an X-linked dominant pattern due to a mutant gene on the X chromosome that is lethal in XY males.

All cases of Aicardi syndrome are thought to be due to new mutations. No person with Aicardi syndrome is known to have transmited the X-linked gene responsible for the syndrome to the next generation.


Differentiating Aicardi syndrome from Other Diseases

Epidemiology and Demographics

Around 500 cases of Aicardi syndrome have been reported worldwide. Except that the syndrome is fairly uncommon, its precise frequency in the population is unknown. Almost all reported cases of Aicardi syndrome have been in females.

Risk Factors


Natural History, Complications, Prognosis

Children are most commonly identified with Aicardi syndrome between the ages of three and five months. A significant number of these girls are products of normal births and seem to be developing normally until around the age of three months, when they begin to have infantile spasms. The onset of infantile spasms at this age is due to closure of the final neural synapses in the brain, a stage of normal brain development.

Additional complications sometimes seen with Aicardi syndrome include porencephalic cysts and hydrocephalus, and gastro-intestinal problems.

The prognosis varies widely from case to case. However, all individuals reported with Aicardi syndrome to date have experienced developmental delay of a significant degree, typically resulting in moderate to profound mental retardation. The age range of the individuals reported with Aicardi syndrome is from birth to the mid 40’s. Aicardi syndrome appears to be lethal in normal males who have only one X chromosome (and a Y chromosome).


Aicardi syndrome is characterized by the following triad of features:

  1. Partial or complete absence of the corpus callosum in the brain (agenesis of the corpus callosum);
  2. Eye abnormalities known as "lacunae" of the retina that are quite specific to this disorder; and
  3. The development in infancy of seizures that are called infantile spasms.

Other types of defects of the brain such as microcephaly, porencephalic cysts and enlarged cerebral ventricles due to hydrocephalus are also more common in Aicardi syndrome.

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies


Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays. Additional complications sometimes seen with Aicardi syndrome include porencephalic cysts and hydrocephalus, and gastro-intestinal problems. Treatment for prencephalic cysts and/or hydrocephalus is often via a shunt or endoscopic fenestration of the cysts, though some require no treatment. Placement of a feeding tube, fundoplication, and surgeries to correct hernias or other gastrointestinal structural problems are sometimes used to treat gastro-intestinal issues.

Medical Therapy



Support Organizations

Aicardi Syndrome Foundation Support and information for families caring for children with Aicardi Syndrome.
A.A.L Syndrome d'Aicardi
Sindrome di Aicardi


de:Aicardi-Syndrom fi:Aicardin oireyhtymä