Aicardi syndrome
From Wikipedia, the free encyclopedia
| ICD-10 | Q04. |
|---|---|
| ICD-9 | 742.2 |
Aicardi syndrome is a congenital disorder thought to result from an abnormality of the X chromosome and characterized by absence of the corpus callosum, retinal abnormalities, and seizures (often infantile spasms). It is X-linked dominant.
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[edit] History
First recognized as a distinct syndrome by Jean Aicardi and Françoise Goutiéres, both French neurologists, in 1984; similar cases had been described in 1949.
[edit] Epidemiology
Around 500 cases have been reported worldwide, almost all of them in females, as the mutation is lethal in otherwise genetically normal males. It has been identified in males with Klinefelter syndrome, who have an extra X chromosome.
[edit] Features
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.
Prognosis varies widely, though all experience developmental delays of some degree, typically moderate to profound mental retardation.
[edit] Diagnosis
Aicardi syndrome is characterized by the following "markers":
- Absence of the Corpus callosum, either partial or complete (Agenesis of the corpus callosum).
- Infantile spasms
- 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, enlarged ventricles, or porencephalic cysts
[edit] Treatment
Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays.
[edit] Prognosis
The known age range of affected children is from birth to the mid 40’s.
