Aicardi syndrome

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

Overview

Aicardi syndrome is a rare malformation characterized by the partial or total absence of the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms. Physical examination demonstrate microcephaly, axial hypotonia, and appendicular hypertonia with spasticity. Aicardi syndrome is an inherited X-linked dominant disorder trait that is incompatible with life in males.

Historical Perspective

• In 1946, Krause described a 2-months old girl with seizures, mental retardation, and microcephalus which later died from pneumonia.
• In 1959, Klein described in an article called "The Pathogenesis of an Atypical Coloboma of the Choroid" an almost identical case of a 2-months old girls with same clinical and anatomopathologic findings as Krause.
• Aicardi syndrome was first fully described by the French neurologist Jean Aicardi in 1965 in his article "A new syndrome: Spasm in flexion, Callosal agenesis, Ocular abnormalities".
• Historically, Aicardi syndrome was characterized by the triad of infantile spasms, chorioretinal lacunae and agenesis of the corpus callosum.

Classification

• There is no established system for classification of Aicardi syndrome..

Pathosphysiology

Genetics

• The mutated gene in Aicardi syndrome has not been found.
• It is thought that Aicardi syndrome is caused by de novo mutations in X-chromosome that cause its inactivation. There are no reported cases of transmitted deffective X chromosome.
• Attempts to identify the mutated gene in Aicardi syndrome by X-chromosome DNA microarrays, comparative hybridization, and genome sequencing have been unsuccessfull.
• Rare cases of males with Aicardi syndrome have been reported, these present with a XXY karyotype (Klinefelter syndrome). Cases with XY karyotype are thought to be caused by mosaicisms.

• Most of the cases, Aicardi syndrome appears to be lethal in males with only one X chromosome.

Epidemiology and Demographics

• Aicardi syndrome is a very rare condition. A precise prevalence and incidence has not been calculated.
• Around 500 cases of Aicardi syndrome have been reported worldwide.

Gender

• Females are much more commonly affected with Aicardi syndrome than males.

Natural History, Complications, Prognosis

• Prognosis for Aicardi syndrome is variable, with the mean age of death about 8.3 years and the median age of death about 18.5 years.

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