Aicardi Syndrome


Aicardi Syndrome

Description, Causes and Risk Factors:

Aicardi syndrome is a rare genetic disorder identified by the French Neurologist, Dr. Jean Aicardi in 1965. The number of identified cases of children with Aicardi syndrome is very difficult to calculate accurately. Several hundred have been reported on in the literature, and one study estimates at least 800 cases in the US, and several thousand worldwide.

Aicardi Syndrome

Aicardi syndrome only affects females, and in very rare cases, males with Klinefelter syndrome (XXY). At present, no etiology explains all the manifestations of Aicardi syndrome. Findings are ascribed to neural tube overdistension during embryogenesis at 4-8 weeks' gestation, but experimental evidence is lacking, and the cause remains unknown.

It is theorized to result from a defect on an x-chromosome, though until the gene is found, this cannot be confirmed. There is only one case of siblings with the syndrome reported upon in the literature, suggesting that almost all cases are new mutations and other family members do not carry the defective gene.

Children are most commonly identified with Aicardi Syndrome before the age of 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 known age range of affected children is from birth to the late forties.

Symptoms:

Aicardi syndrome is characterized by the following "markers":

    Absence of the corpus callosum, either partial or complete (the corpus callosum is the part of the brain which sits between the right and left sides of the brain and allows the right side to communicate with the left.)

  • Infantile spasms (a form of seizures).

  • Lesions or "lacunae" of the retina of the eye that are very specific to this disorder.

  • Other types of defects of the brain such as microcephaly, (small brain); enlarged ventricles; or porencephalic cysts (a gap in the brain where there should be healthy brain tissue).

Diagnosis:

If the clinical scenario is convincing in patients with suspected Aicardi syndrome, extensive laboratory studies are not indicated.

    Most children should have high-resolution karyotyping. If the diagnosis is doubtful, consider evaluating for inborn metabolic error and congenital infection.

  • If typical clinical findings manifest in a male, look for an XXY chromosomal pattern.

  • Children with partial manifestations may have translocations that can influence reproductive choices of parents.

Treatment:

Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays. Prognosis for these children varies. Almost all experience developmental delays, with the majority facing moderate to severe mental retardation. Published medical information in professional journals is somewhat limited and these articles are written by and for specialists. A listing of some journal articles with links to their abstracts (and full text when freely available) can be found here. Genetic research is ongoing into the cause of this disorder and the Aicardi Syndrome Foundation and newsletter member families continue to be active participants in several research projects.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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