Aicardi syndrome

WikiDoc Resources for Aicardi syndrome
Articles
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
Media
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 Trials.gov 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 NHS PRODIGY Guidance FDA on Aicardi syndrome CDC on Aicardi syndrome
Books
Books on Aicardi syndrome
News
Aicardi syndrome in the news Be alerted to news on Aicardi syndrome News trends on Aicardi syndrome
Commentary
Blogs on Aicardi syndrome
Definitions
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
International
Aicardi syndrome en Espanol Aicardi syndrome en Francais
Business
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:

Please help WikiDoc by adding content here. It's easy! Click here to learn about editing.

Overview

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.

Pathosphysiology

Genetics

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.

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.

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).

Diagnosis

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.

Treatment

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.

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