Aicardi syndrome. Chorioretinal anomalies-corpus callosum agenesis-infantile spasms syndrome.
Incidence
The number of identified cases of girls with Aicardi syndrome is approximately 300 - 500 worldwide. Transmitted as an X-linked dominant trait with embryonic lethality in hemizygous males. Mapped to the short arm of chromosome X (Xp22).
Clinical Characteristics
Aicardi syndrome is a developmental disorder characterised by agenesis of the corpus callosum, retinal anomalies, seizures and developmental delay. It is transmitted as an X-linked disorder with presumed lethality in males. Very few cases have been observed in males with caryotype 47, XXY. There are no significant differences in symptoms severity and disease evolution between male and female cases. 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. Mental retardation. Affects females only, or in very rare cases, males with Klinefelter Syndrome (X-linked). 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. Children are most commonly identified with Aicardi Syndrome between the ages of three and five months. It is considered an epileptic syndrome. 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. Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays. Aicardi syndrome often is complicated by severe mental retardation, intractable epilepsy, and a resultant propensity to pulmonary complications. The condition often leads to death in the first decade. Sudden unexplained death is common. Prognosis for these children varies.
Precipitants
None.
Provocation Tests
None.
Diagnostic Procedures
It is a clinical diagnosis. MRI helps with Dx. Eye findings are very useful. The electroencephalogram (EEG) will often show the pattern found in West syndrome which is known as hypsarrhythmia. Rarely the EEG may show abnormal discharges or spikes and waves alternating with periods of flatness coming independently from each side of the brain (independent burst suppression pattern).