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Aicardi's syndrome

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Characteristic malformation syndrome which appear in females only (males - intrauterine death), with progrediating psychomotor deterioration.

Description

Characteristic malformation syndrome which appear in females only (males - intrauterine death), with progrediating psychomotor deterioration. Infantile spasms, which may become manifest between 1 day and 4 months of age, epileptic attacks; typical bowing of the head (salaam seizures), agenesis of the corpus callosum, costovertebral anomalies, mental abnormalities, and hypotonia. Ocular changes include microphthalmia, eyelid twitching, absent pupillary reflexes, and funnel-shaped disks. Etiology unknown. Current theories include congenital infection, an X-linked genetic defect, and an intrauterine environmental agent. Poor prognosis.

Aicardi first described the disorder in two girls. In the years that followed he was able to accumulate more cases, all of whom were females. His senior colleague, professor Jacques Lefebre, a co-author of an earlier abstract, encouraged him to delineate the new syndrome and in 1969 a full account was published in the French literature.

This syndrome is defined as a "rare disorder", meaning that there are less than 20,000 cases worldwide. The number of identified cases of girls with Aicardi syndrome is approximately 300 - 500 worldwide.

Bibliography

  • J. Aicardi, J. Lefebvre, A. Lerique-Koechlin:
    A new syndrome: Spasm in flexion, callosal agenesis, ocular abnormalities.
    Electroencephalography and Clinical Neurophysiology, Limerick, 1965, 19: 609-610.
  • J. Aicardi, J.J. Chevrie, F. Rousselie:
    Le syndrome spasmes en fléxion, agénésie calleuse, anomalies chorio-rétiniennes.
    Archives francaises de pédiatrie, Paris, 1969; 26: 1103-1120.

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