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

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